Dengue
Dengue Virus
Carcinoma 256, Walker
Severe Dengue
Dengue Vaccines
Aedes
Down Syndrome
Metabolic Syndrome X
Orthopedic Equipment
Nephrotic Syndrome
Sjogren's Syndrome
Insect Vectors
Walking
Turner Syndrome
Thailand
Culicidae
Abnormalities, Multiple
Myelodysplastic Syndromes
Disease Outbreaks
Cushing Syndrome
Molecular Sequence Data
Nicaragua
Antibody-Dependent Enhancement
Viral Nonstructural Proteins
Acute Coronary Syndrome
Polycystic Ovary Syndrome
Williams Syndrome
Mutation
Vietnam
DiGeorge Syndrome
Guillain-Barre Syndrome
Horner Syndrome
Prader-Willi Syndrome
Long QT Syndrome
Flavivirus
Amino Acid Sequence
Immunoglobulin M
Mosquito Control
Self-Help Devices
Hemolytic-Uremic Syndrome
Serotyping
Compartment Syndromes
Tourette Syndrome
Balsams
Antiphospholipid Syndrome
Porcine Reproductive and Respiratory Syndrome
Adenosine Triphosphate
Puerto Rico
Adenosine Triphosphatases
Klinefelter Syndrome
Amino Acid Motifs
Carpal Tunnel Syndrome
Enzyme-Linked Immunosorbent Assay
Werner Syndrome
Reye Syndrome
Bartter Syndrome
Base Sequence
Brazil
Porcine respiratory and reproductive syndrome virus
HELLP Syndrome
Disease Vectors
Bloom Syndrome
Brugada Syndrome
Incidence
Ehlers-Danlos Syndrome
Phenotype
Respiratory Distress Syndrome, Adult
Angelman Syndrome
Seasons
Pedigree
Viral Envelope Proteins
Risk Factors
Severe Acute Respiratory Syndrome
Restless Legs Syndrome
Job Syndrome
Wiskott-Aldrich Syndrome
Americas
Singapore
Paraneoplastic Syndromes
Retrospective Studies
Cuba
Sweet Syndrome
Sri Lanka
Immunoglobulin G
Acquired Immunodeficiency Syndrome
Severity of Illness Index
Intellectual Disability
Sensitivity and Specificity
Treatment Outcome
Polynesia
Churg-Strauss Syndrome
Vero Cells
Reverse Transcriptase Polymerase Chain Reaction
Sturge-Weber Syndrome
Antibodies, Neutralizing
Prospective Studies
Budd-Chiari Syndrome
Asia, Southeastern
Wounds and Injuries
Neutralization Tests
Binding Sites
Chediak-Higashi Syndrome
Indonesia
Consumer Product Safety
Reduction cranioplasty for macrocephaly. Two case reports. (1/59)
Multi-stage reduction cranioplasty was performed on two children with severe macrocephaly secondary to hydrocephalus. One patient underwent a four-stage operation, and the other underwent a two-stage operation. The postoperative course of both patients was uneventful. Reduction cranioplasty improved quality of life for both patients, and good cosmetic results were achieved. Reduction cranioplasty is effective for the treatment of macrocephaly, and multi-stage surgery can reduce the associated risks. (+info)Midline cerebellar cystic schwannoma : a case report. (2/59)
An extremely unusual case of a cystic schwannoma in the region of the inferior vermis and posterior to the fourth ventricle in a fifteen year old boy is reported. The cystic tumour caused partial obstruction to the outflow of cerebrospinal fluid from fourth ventricle and resulted in development of supratentorial hydrocephalus. On investigations, the schwannoma simulated a Dandy-Walker cyst. The boy presented with symptoms of increased intracranial pressure. On surgery, the lesion was not arising from any cranial nerve, nor was it attached to brain parenchyma, blood vessel or to the dura. The possible histogenesis of the cystic schwannoma in a rare location is discussed. (+info)Dandy-Walker syndrome associated with occipital meningocele and spinal lipoma--case report. (3/59)
A neonate presented with Dandy-Walker syndrome associated with occipital meningocele and spinal lipoma, manifesting as soft masses on the skull and lumbosacral regions. Magnetic resonance imaging demonstrated a large posterior fossa cyst between the fourth ventricle and occipital meningocele, but the aqueduct was patent and there was no sign of hydrocephalus. A cyst-peritoneal shunt was emplaced at the age of 8 days followed by partial removal of the spinal lipoma and untethering of the cord at the 3 months. Follow-up examination of age 3 years found almost normal development, although the cyst still persisted. (+info)Neurodevelopmental outcome after antenatal diagnosis of posterior fossa abnormalities. (4/59)
Posterior fossa abnormalities are sonographically diagnosable in the fetus. Anomalies of this region include Dandy-Walker malformation, enlarged cisterna magna, and arachnoid cyst. Despite prenatal diagnosis, the uncertainties related to natural history and neurodevelopmental outcome in survivors make patient counseling difficult. The purposes of this study were to determine the accuracy of prenatal diagnosis of these lesions and elucidate long-term neurodevelopmental outcome in survivors in prenatally diagnosed posterior fossa abnormalities. Fifteen cases of posterior fossa abnormalities were reviewed. Antenatal diagnoses of Dandy-Walker malformation was made in 13 of these cases, arachnoid cyst in one case, and enlarged cisterna magna in one case. Hydrocephalus was present in 66% of patients. The sonographic diagnosis was concordant with the pathologic or neonatal radiologic diagnosis in 13 of 15 cases. Seven fetuses (47%) exhibited additional cranial or extracranial anomalies. A karyotypic abnormality (trisomy 18) was found in one of 15 cases of posterior fossa abnormalities. Neurodevelopmental delay was present in 80% of survivors with follow-up study to 4 years of age. Prenatal diagnosis of posterior fossa abnormalities is highly accurate, yet the differential diagnosis can be challenging. Cognitive and psychomotor developmental delays remain commonplace despite early diagnosis and treatment. The approach with families in cases of prenatal diagnosis of posterior fossa abnormalities should include a search for additional central nervous system and extra-central nervous system anomalies in the fetus and counseling of parents regarding potential adverse outcome for survivors. (+info)Dandy-Walker syndrome successfully treated with cystoperitoneal shunting--case report. (5/59)
A neonate presented with Dandy-Walker syndrome manifesting as a large posterior cranial fossa cyst, aplasia of the lower cerebellar vermis, and elevation of the confluence of the sinuses but without hydrocephalus. A cystoperitoneal shunt was placed at one month after birth. The cyst diminished in size, and marked development of the cerebellar hemispheres and descent of the confluence of sinuses were observed, but not vermis development. The primary pathology of Dandy-Walker syndrome is posterior cranial fossa cyst formation due to passage obstruction in the fourth ventricle exit area and aplasia of the lower cerebellar vermis. The first choice of treatment in patients with Dandy-Walker syndrome in whom the cerebral aqueduct is open is cystoperitoneal shunt surgery, regardless of the presence or absence of hydrocephalus. (+info)Cerebellar cortical dysplasia: MR findings in a complex entity. (6/59)
BACKGROUND AND PURPOSE: MR imaging findings of cerebellar cortical dysplasia have been described as a new cerebellar malformation. The purpose of this study was to assess the association of cerebellar cortical dysplasia with other cerebral malformations. METHODS: We retrospectively reviewed 46 MR examinations of patients presenting with developmental delay, hypotonia, and facial deformities to identify abnormal folia or fissures or both within cerebellar hemispheres or vermis suggesting cortical dysplasia. RESULTS: Cerebellar cortical dysplasia was diagnosed in 17 patients. In two patients, it was isolated. In the remaining 15 patients, the malformation was associated with vermian malformation (n=11), cerebral cortical dysplasias (n=8), dysplasia of corpus callosum (n=6), and heterotopia (n=5). A widespread malformation of the posterior fossa was observed in eight patients (Dandy-Walker, Chiari II and III, and hypoplasia of brain stem). One patient with hypertrophied cerebellar hemisphere had minor enlargement of the right cerebral hemisphere and lateral ventricle. He also had nodular heterotopia, suggesting unilateral megalencephaly. CONCLUSION: Our study suggests that cerebellar cortical dysplasias are common in cases with more widespread cerebral malformations. Technical progress providing high-quality tridimensional MR imaging of the cerebellum may explain its recent descriptions. (+info)Dandy-Walker like malformation in a Fischer-344 rat. (7/59)
A spontaneous cerebellar malformation was found in a 32-day-old male Fischer 344 rat. The cerebellar malformation was composed of a vermis defect and markedly dilated fourth ventricle. The cerebellar hemispheres were separated, with the left hemisphere being smaller than the right one. Degenerative/inflammatory lesions consisting of macrophage/lymphocyte infiltration, spheroidal calcium depositions, and astrocytic gliosis were seen adjacent to the cerebral aqueduct. Abnormally arranged hyperplastic ependymal cells were observed beneath the fourth ventricle in the medulla oblongata. The gross findings of the present case resemble those of the human Dandy-Walker malformation. While a precise mechanism remains to be elucidated, degenerative/inflammatory lesions in the present rat may be involved in the pathogenesis of this malformation. (+info)The clivus-supraocciput angle: a useful measurement to evaluate the shape and size of the fetal posterior fossa and to diagnose Chiari II malformation. (8/59)
OBJECTIVE: To obtain a nomogram of the clivus-supraocciput angle as a basis for the diagnosis of Chiari II malformation in fetuses with ventriculomegaly. METHODS: A cross-sectional study was undertaken on 310 normal pregnant women of 16-34 weeks' gestation. A mid-sagittal section of the fetal skull was obtained and the angle between the clivus and the supraocciput was measured. Forty-four fetuses with ventriculomegaly due to various causes (13 Chiari II malformation, 12 dysgenesis of the corpus callosum, 7 aqueductal stenosis, 6 borderline ventriculomegaly, 3 Dandy-Walker malformation, 2 porencephaly, 1 schizencephaly) were also included in the study and the values of the angle found in the pathological cases were compared with those found in the normal population. RESULTS: The clivus-supraocciput angle did not change during gestation and was almost constant with an average value of 79.3 +/- 6 degrees. All cases of Chiari II malformation showed a value below the 5th centile of our nomogram. CONCLUSIONS: The evaluation of the posterior fossa and particularly the measurement of the clivus-supraocciput angle is a useful parameter to differentiate the various causes of fetal ventriculomegaly and particularly to recognize Chiari II malformation. (+info)Dengue is a mosquito-borne viral infection that is primarily transmitted by the Aedes aegypti and Aedes albopictus species of mosquitoes. It is caused by one of four closely related dengue viruses (DENV 1, DENV 2, DENV 3, or DENV 4). The infection can cause a wide range of symptoms, ranging from mild fever and headache to severe flu-like illness, which is often characterized by the sudden onset of high fever, severe headache, muscle and joint pain, nausea, vomiting, and skin rash. In some cases, dengue can progress to more severe forms, such as dengue hemorrhagic fever or dengue shock syndrome, which can be life-threatening if not treated promptly and appropriately.
Dengue is prevalent in many tropical and subtropical regions around the world, particularly in urban and semi-urban areas with poor sanitation and inadequate mosquito control. There is no specific treatment for dengue, and prevention efforts focus on reducing mosquito populations and avoiding mosquito bites. Vaccines are available in some countries to prevent dengue infection, but they are not widely used due to limitations in their effectiveness and safety.
Dengue virus (DENV) is a single-stranded, positive-sense RNA virus that belongs to the genus Flavivirus in the family Flaviviridae. It is primarily transmitted to humans through the bites of infected female mosquitoes, mainly Aedes aegypti and Aedes albopictus.
The DENV genome contains approximately 11,000 nucleotides and encodes three structural proteins (capsid, pre-membrane/membrane, and envelope) and seven non-structural proteins (NS1, NS2A, NS2B, NS3, NS4A, NS4B, and NS5). There are four distinct serotypes of DENV (DENV-1, DENV-2, DENV-3, and DENV-4), each of which can cause dengue fever, a mosquito-borne viral disease.
Infection with one serotype provides lifelong immunity against that particular serotype but only temporary and partial protection against the other three serotypes. Subsequent infections with different serotypes can increase the risk of developing severe dengue, such as dengue hemorrhagic fever or dengue shock syndrome, due to antibody-dependent enhancement (ADE) and original antigenic sin phenomena.
DENV is a significant public health concern in tropical and subtropical regions worldwide, with an estimated 390 million annual infections and approximately 100-400 million clinical cases. Preventive measures include vector control strategies to reduce mosquito populations and the development of effective vaccines against all four serotypes.
"Walker" is not a medical term per se, but it is often used in the medical field to refer to a mobility aid that helps individuals who have difficulty walking independently. Walkers are typically made of lightweight metal and have four legs that provide stability and support. Some walkers come with wheels or glides on the front legs to make it easier for users to move around. They may also include brakes, seats, and baskets for added functionality.
Walkers can be beneficial for people who have mobility limitations due to various medical conditions such as arthritis, stroke, fractures, neurological disorders, or aging-related issues. Using a walker can help reduce the risk of falls, improve balance, increase independence, and enhance overall quality of life.
It is essential to consult with a healthcare professional before using a walker to ensure proper fit, adjustment, and usage techniques for maximum safety and effectiveness.
I'm sorry for any confusion, but "Carcinoma 256, Walker" is not a recognized medical term or diagnosis. It seems that this term may be a misnomer or a typographical error. If you are referring to a specific type of carcinoma or a medical case report by Walker, could you please provide more context or clarify the term? I would be happy to help you with accurate and reliable medical information once I understand your question better.
A carcinoma is a type of cancer that begins in the cells that line various internal and external body surfaces, including organs, glands, and skin. If you are looking for general information about carcinomas or have any other medical questions, please feel free to ask!
Severe dengue, also known as dengue hemorrhagic fever, is a severe and potentially fatal complication of dengue virus infection. The World Health Organization (WHO) defines it as follows:
"Dengue hemorrhagic fever is characterized by a high fever (40°C/104°F) that lasts for 2-7 days, with generalized pain and severe headache, bleeding manifestations (e.g., nose or gum bleed, skin rash with bruising, internal bleeding), plasma leakage leading to accumulation of fluid in the lungs or abdomen, and a rapid decrease in platelet count."
Severe dengue can be life-threatening if not diagnosed and treated promptly. It is important to seek medical attention immediately if you suspect you have dengue fever and are experiencing any of the symptoms associated with severe dengue.
A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.
For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.
It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.
Dengue vaccines are designed to protect against dengue fever, a mosquito-borne viral disease that can cause severe flu-like symptoms and potentially life-threatening complications. Dengue is caused by four distinct serotypes of the virus (DENV-1, DENV-2, DENV-3, and DENV-4), and infection with one serotype does not provide immunity against the others.
The first licensed dengue vaccine, Dengvaxia (CYD-TDV), is a chimeric yellow fever-dengue tetravalent vaccine developed by Sanofi Pasteur. It is approved for use in several countries and has demonstrated efficacy against dengue fever caused by all four serotypes in clinical trials. However, the vaccine has raised concerns about the risk of severe disease in individuals who have not been previously exposed to dengue. As a result, it is recommended primarily for people with a documented past dengue infection or living in areas with high dengue prevalence and where the benefits outweigh the risks.
Another dengue vaccine candidate, Takeda's TAK-003 (also known as TDV), is a live attenuated tetravalent dengue vaccine that has shown efficacy against all four serotypes in clinical trials. It was granted approval by the European Medicines Agency (EMA) and several other countries for use in individuals aged 4-16 years old, living in endemic areas.
Research and development of additional dengue vaccine candidates are ongoing to address concerns about safety, efficacy, and accessibility, particularly for at-risk populations in low- and middle-income countries where dengue is most prevalent.
"Aedes" is a genus of mosquitoes that are known to transmit various diseases, including Zika virus, dengue fever, chikungunya, and yellow fever. These mosquitoes are typically found in tropical and subtropical regions around the world. They are distinguished by their black and white striped legs and thorax. Aedes aegypti is the most common species associated with disease transmission, although other species such as Aedes albopictus can also transmit diseases. It's important to note that only female mosquitoes bite and feed on blood, while males feed solely on nectar and plant juices.
"Infant equipment" is not a medical term per se, but rather refers to various devices and supplies used in the care and support of infants. Here are some examples of infant equipment with brief descriptions:
1. Infant car seat: A safety device designed to protect infants during vehicle transportation. It is required by law in many jurisdictions for newborns and young children to travel in a properly installed car seat.
2. Stroller: A wheeled vehicle that provides a convenient means of transporting infants and young children. Some strollers come with additional features such as reclining seats, sunshades, and storage baskets.
3. Baby monitor: An electronic device used to remotely monitor an infant's activities and sounds in a separate room. It typically consists of a transmitter unit near the baby and a receiver unit for the parent or caregiver.
4. Bassinet or cradle: A small bed designed specifically for newborns and young infants. It is often used during the first few months of life, providing a safe and cozy sleeping environment.
5. Diaper bag: A specialized bag designed to carry diapers, wipes, clothing, and other essential supplies for infant care while on-the-go.
6. Breast pump: A device used by breastfeeding mothers to express milk from their breasts. It can be manual or electric and is often used when a mother needs to provide expressed milk for her baby when she is away or unable to nurse directly.
7. Bottle warmer: An appliance that heats infant formula or breastmilk to a safe temperature for feeding.
8. Pacifier or dummy: A small, silicone or rubber teat used to soothe and comfort infants by providing something to suck on.
9. Infant tub: A specialized bathtub designed for bathing newborns and young infants. It often features a slanted design with a non-slip surface and a gentle slope for easy washing and rinsing.
10. Changing table or mat: A raised, flat surface used to change an infant's diaper. Some changing tables are built into dressers or cribs, while others are standalone units or foldable mats that can be placed on a bed or the floor.
Down syndrome is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is characterized by intellectual and developmental disabilities, distinctive facial features, and sometimes physical growth delays and health problems. The condition affects approximately one in every 700 babies born in the United States.
Individuals with Down syndrome have varying degrees of cognitive impairment, ranging from mild to moderate or severe. They may also have delayed development, including late walking and talking, and may require additional support and education services throughout their lives.
People with Down syndrome are at increased risk for certain health conditions, such as congenital heart defects, respiratory infections, hearing loss, vision problems, gastrointestinal issues, and thyroid disorders. However, many individuals with Down syndrome live healthy and fulfilling lives with appropriate medical care and support.
The condition is named after John Langdon Down, an English physician who first described the syndrome in 1866.
Metabolic syndrome, also known as Syndrome X, is a cluster of conditions that increase the risk of heart disease, stroke, and diabetes. It is not a single disease but a group of risk factors that often co-occur. According to the American Heart Association and the National Heart, Lung, and Blood Institute, a person has metabolic syndrome if they have any three of the following five conditions:
1. Abdominal obesity (waist circumference of 40 inches or more in men, and 35 inches or more in women)
2. Triglyceride level of 150 milligrams per deciliter of blood (mg/dL) or greater
3. HDL cholesterol level of less than 40 mg/dL in men or less than 50 mg/dL in women
4. Systolic blood pressure of 130 millimeters of mercury (mmHg) or greater, or diastolic blood pressure of 85 mmHg or greater
5. Fasting glucose level of 100 mg/dL or greater
Metabolic syndrome is thought to be caused by a combination of genetic and lifestyle factors, such as physical inactivity and a diet high in refined carbohydrates and unhealthy fats. Treatment typically involves making lifestyle changes, such as eating a healthy diet, getting regular exercise, and losing weight if necessary. In some cases, medication may also be needed to manage individual components of the syndrome, such as high blood pressure or high cholesterol.
Orthopedic equipment refers to devices or appliances used in the practice of orthopedics, which is a branch of medicine focused on the correction, support, and prevention of disorders, injuries, or deformities of the skeletal system, including bones, joints, ligaments, tendons, and muscles. These devices can be categorized into various types based on their function and application:
1. Mobility aids: Equipment that helps individuals with impaired mobility to move around more easily, such as walkers, crutches, canes, wheelchairs, and scooters.
2. Immobilization devices: Used to restrict movement of a specific body part to promote healing, prevent further injury, or provide support during rehabilitation, including casts, braces, splints, slings, and collars.
3. Prosthetics: Artificial limbs that replace missing body parts due to amputation, illness, or congenital defects, enabling individuals to perform daily activities and maintain independence.
4. Orthotics: Custom-made or off-the-shelf devices worn inside shoes or on the body to correct foot alignment issues, provide arch support, or alleviate pain in the lower extremities.
5. Rehabilitation equipment: Devices used during physical therapy sessions to improve strength, flexibility, balance, and coordination, such as resistance bands, exercise balls, balance boards, and weight training machines.
6. Surgical instruments: Specialized tools used by orthopedic surgeons during operations to repair fractures, replace joints, or correct deformities, including saws, drills, retractors, and screwdrivers.
7. Diagnostic equipment: Imaging devices that help healthcare professionals assess musculoskeletal conditions, such as X-ray machines, CT scanners, MRI machines, and ultrasound systems.
These various types of orthopedic equipment play a crucial role in the diagnosis, treatment, rehabilitation, and management of orthopedic disorders and injuries, enhancing patients' quality of life and functional abilities.
Nephrotic syndrome is a group of symptoms that indicate kidney damage, specifically damage to the glomeruli—the tiny blood vessel clusters in the kidneys that filter waste and excess fluids from the blood. The main features of nephrotic syndrome are:
1. Proteinuria (excess protein in urine): Large amounts of a protein called albumin leak into the urine due to damaged glomeruli, which can't properly filter proteins. This leads to low levels of albumin in the blood, causing fluid buildup and swelling.
2. Hypoalbuminemia (low blood albumin levels): As albumin leaks into the urine, the concentration of albumin in the blood decreases, leading to hypoalbuminemia. This can cause edema (swelling), particularly in the legs, ankles, and feet.
3. Edema (fluid retention and swelling): With low levels of albumin in the blood, fluids move into the surrounding tissues, causing swelling or puffiness. The swelling is most noticeable around the eyes, face, hands, feet, and abdomen.
4. Hyperlipidemia (high lipid/cholesterol levels): The kidneys play a role in regulating lipid metabolism. Damage to the glomeruli can lead to increased lipid production and high cholesterol levels in the blood.
Nephrotic syndrome can result from various underlying kidney diseases, such as minimal change disease, membranous nephropathy, or focal segmental glomerulosclerosis. Treatment depends on the underlying cause and may include medications to control inflammation, manage high blood pressure, and reduce proteinuria. In some cases, dietary modifications and lifestyle changes are also recommended.
Sjögren's syndrome is a chronic autoimmune disorder in which the body's immune system mistakenly attacks its own moisture-producing glands, particularly the tear and salivary glands. This can lead to symptoms such as dry eyes, dry mouth, and dryness in other areas of the body. In some cases, it may also affect other organs, leading to a variety of complications.
There are two types of Sjögren's syndrome: primary and secondary. Primary Sjögren's syndrome occurs when the condition develops on its own, while secondary Sjögren's syndrome occurs when it develops in conjunction with another autoimmune disease, such as rheumatoid arthritis or lupus.
The exact cause of Sjögren's syndrome is not fully understood, but it is believed to involve a combination of genetic and environmental factors. Treatment typically focuses on relieving symptoms and may include artificial tears, saliva substitutes, medications to stimulate saliva production, and immunosuppressive drugs in more severe cases.
Insect vectors are insects that transmit disease-causing pathogens (such as viruses, bacteria, parasites) from one host to another. They do this while feeding on the host's blood or tissues. The insects themselves are not infected by the pathogen but act as mechanical carriers that pass it on during their bite. Examples of diseases spread by insect vectors include malaria (transmitted by mosquitoes), Lyme disease (transmitted by ticks), and plague (transmitted by fleas). Proper prevention measures, such as using insect repellent and reducing standing water where mosquitoes breed, can help reduce the risk of contracting these diseases.
Antibodies, viral are proteins produced by the immune system in response to an infection with a virus. These antibodies are capable of recognizing and binding to specific antigens on the surface of the virus, which helps to neutralize or destroy the virus and prevent its replication. Once produced, these antibodies can provide immunity against future infections with the same virus.
Viral antibodies are typically composed of four polypeptide chains - two heavy chains and two light chains - that are held together by disulfide bonds. The binding site for the antigen is located at the tip of the Y-shaped structure, formed by the variable regions of the heavy and light chains.
There are five classes of antibodies in humans: IgA, IgD, IgE, IgG, and IgM. Each class has a different function and is distributed differently throughout the body. For example, IgG is the most common type of antibody found in the bloodstream and provides long-term immunity against viruses, while IgA is found primarily in mucous membranes and helps to protect against respiratory and gastrointestinal infections.
In addition to their role in the immune response, viral antibodies can also be used as diagnostic tools to detect the presence of a specific virus in a patient's blood or other bodily fluids.
Medical science often defines and describes "walking" as a form of locomotion or mobility where an individual repeatedly lifts and sets down each foot to move forward, usually bearing weight on both legs. It is a complex motor activity that requires the integration and coordination of various systems in the human body, including the musculoskeletal, neurological, and cardiovascular systems.
Walking involves several components such as balance, coordination, strength, and endurance. The ability to walk independently is often used as a measure of functional mobility and overall health status. However, it's important to note that the specific definition of walking may vary depending on the context and the medical or scientific field in question.
Turner Syndrome is a genetic disorder that affects females, caused by complete or partial absence of one X chromosome. The typical karyotype is 45,X0 instead of the normal 46,XX in women. This condition leads to distinctive physical features and medical issues in growth, development, and fertility. Characteristic features include short stature, webbed neck, low-set ears, and swelling of the hands and feet. Other potential symptoms can include heart defects, hearing and vision problems, skeletal abnormalities, kidney issues, and learning disabilities. Not all individuals with Turner Syndrome will have every symptom, but most will require medical interventions and monitoring throughout their lives to address various health concerns associated with the condition.
The term "canes" is a common name for walking sticks that are used as a mobility aid. They are typically made of materials such as wood, metal, or fiberglass and have a handle at the top and a single foot at the bottom to provide support and stability while walking.
However, in medical terminology, "canes" does not have a specific definition. It is simply another name for walking sticks or walking canes. If you are looking for a medical definition related to a specific medical condition or treatment, could you please provide more context?
I'm sorry for any confusion, but "Thailand" is not a medical term. It is a country located in Southeast Asia. If you have any questions about medical terms or concepts, I would be happy to help answer those for you!
'Culicidae' is the biological family that includes all species of mosquitoes. It consists of three subfamilies: Anophelinae, Culicinae, and Toxorhynchitinae. Mosquitoes are small, midge-like flies that are known for their ability to transmit various diseases to humans and other animals, such as malaria, yellow fever, dengue fever, and Zika virus. The medical importance of Culicidae comes from the fact that only female mosquitoes require blood meals to lay eggs, and during this process, they can transmit pathogens between hosts.
'Abnormalities, Multiple' is a broad term that refers to the presence of two or more structural or functional anomalies in an individual. These abnormalities can be present at birth (congenital) or can develop later in life (acquired). They can affect various organs and systems of the body and can vary greatly in severity and impact on a person's health and well-being.
Multiple abnormalities can occur due to genetic factors, environmental influences, or a combination of both. Chromosomal abnormalities, gene mutations, exposure to teratogens (substances that cause birth defects), and maternal infections during pregnancy are some of the common causes of multiple congenital abnormalities.
Examples of multiple congenital abnormalities include Down syndrome, Turner syndrome, and VATER/VACTERL association. Acquired multiple abnormalities can result from conditions such as trauma, infection, degenerative diseases, or cancer.
The medical evaluation and management of individuals with multiple abnormalities depend on the specific abnormalities present and their impact on the individual's health and functioning. A multidisciplinary team of healthcare professionals is often involved in the care of these individuals to address their complex needs.
Myelodysplastic syndromes (MDS) are a group of diverse bone marrow disorders characterized by dysplasia (abnormal development or maturation) of one or more types of blood cells or by ineffective hematopoiesis, resulting in cytopenias (lower than normal levels of one or more types of blood cells). MDS can be classified into various subtypes based on the number and type of cytopenias, the degree of dysplasia, the presence of ring sideroblasts, and cytogenetic abnormalities.
The condition primarily affects older adults, with a median age at diagnosis of around 70 years. MDS can evolve into acute myeloid leukemia (AML) in approximately 30-40% of cases. The pathophysiology of MDS involves genetic mutations and chromosomal abnormalities that lead to impaired differentiation and increased apoptosis of hematopoietic stem and progenitor cells, ultimately resulting in cytopenias and an increased risk of developing AML.
The diagnosis of MDS typically requires a bone marrow aspiration and biopsy, along with cytogenetic and molecular analyses to identify specific genetic mutations and chromosomal abnormalities. Treatment options for MDS depend on the subtype, severity of cytopenias, and individual patient factors. These may include supportive care measures, such as transfusions and growth factor therapy, or more aggressive treatments, such as chemotherapy and stem cell transplantation.
A disease outbreak is defined as the occurrence of cases of a disease in excess of what would normally be expected in a given time and place. It may affect a small and localized group or a large number of people spread over a wide area, even internationally. An outbreak may be caused by a new agent, a change in the agent's virulence or host susceptibility, or an increase in the size or density of the host population.
Outbreaks can have significant public health and economic impacts, and require prompt investigation and control measures to prevent further spread of the disease. The investigation typically involves identifying the source of the outbreak, determining the mode of transmission, and implementing measures to interrupt the chain of infection. This may include vaccination, isolation or quarantine, and education of the public about the risks and prevention strategies.
Examples of disease outbreaks include foodborne illnesses linked to contaminated food or water, respiratory infections spread through coughing and sneezing, and mosquito-borne diseases such as Zika virus and West Nile virus. Outbreaks can also occur in healthcare settings, such as hospitals and nursing homes, where vulnerable populations may be at increased risk of infection.
Cushing syndrome is a hormonal disorder that occurs when your body is exposed to high levels of the hormone cortisol for a long time. This can happen due to various reasons such as taking high doses of corticosteroid medications or tumors that produce cortisol or adrenocorticotropic hormone (ACTH).
The symptoms of Cushing syndrome may include:
* Obesity, particularly around the trunk and upper body
* Thinning of the skin, easy bruising, and purple or red stretch marks on the abdomen, thighs, breasts, and arms
* Weakened bones, leading to fractures
* High blood pressure
* High blood sugar
* Mental changes such as depression, anxiety, and irritability
* Increased fatigue and weakness
* Menstrual irregularities in women
* Decreased fertility in men
Cushing syndrome can be diagnosed through various tests, including urine and blood tests to measure cortisol levels, saliva tests, and imaging tests to locate any tumors. Treatment depends on the cause of the condition but may include surgery, radiation therapy, chemotherapy, or adjusting medication dosages.
Molecular sequence data refers to the specific arrangement of molecules, most commonly nucleotides in DNA or RNA, or amino acids in proteins, that make up a biological macromolecule. This data is generated through laboratory techniques such as sequencing, and provides information about the exact order of the constituent molecules. This data is crucial in various fields of biology, including genetics, evolution, and molecular biology, allowing for comparisons between different organisms, identification of genetic variations, and studies of gene function and regulation.
I'm sorry for any confusion, but "Nicaragua" is not a medical term. It is the largest country in the Central American Isthmus, bordering Honduras to the north and Costa Rica to the south. It has coastlines on both the Caribbean Sea and the North Pacific Ocean.
If you have any medical questions or terms you would like defined, I'd be happy to help!
Antibody-Dependent Enhancement (ADE) is a phenomenon in which the presence of antibodies against a particular virus actually enhances the ability of the virus to infect and replicate within host cells, leading to increased severity of infection. This occurs when the antibodies bind to the virus but do not neutralize it, instead facilitating uptake of the virus into immune cells expressing Fc receptors, such as macrophages. The virus can then use these cells as a site for replication and evasion of the host's immune response. ADE has been observed in various viral infections, including dengue fever and respiratory syncytial virus (RSV) infection. It is a concern in the development of vaccines against these viruses, as non-neutralizing antibodies induced by vaccination could potentially enhance subsequent infection with a heterologous strain of the virus.
Viral nonstructural proteins (NS) are viral proteins that are not part of the virion structure. They play various roles in the viral life cycle, such as replication of the viral genome, transcription, translation regulation, and modulation of the host cell environment to favor virus replication. These proteins are often produced in large quantities during infection and can manipulate or disrupt various cellular pathways to benefit the virus. They may also be involved in evasion of the host's immune response. The specific functions of viral nonstructural proteins vary depending on the type of virus.
Acute Coronary Syndrome (ACS) is a term used to describe a range of conditions associated with sudden, reduced blood flow to the heart muscle. This reduction in blood flow, commonly caused by blood clots forming in coronary arteries, can lead to damage or death of the heart muscle and is often characterized by symptoms such as chest pain, shortness of breath, and fatigue.
There are three main types of ACS:
1. Unstable Angina: This occurs when there is reduced blood flow to the heart muscle, causing chest pain or discomfort, but the heart muscle is not damaged. It can be a warning sign for a possible future heart attack.
2. Non-ST Segment Elevation Myocardial Infarction (NSTEMI): This type of heart attack occurs when there is reduced blood flow to the heart muscle, causing damage or death of some of the muscle cells. However, the electrical activity of the heart remains relatively normal.
3. ST Segment Elevation Myocardial Infarction (STEMI): This is a serious and life-threatening type of heart attack that occurs when there is a complete blockage in one or more of the coronary arteries, causing extensive damage to the heart muscle. The electrical activity of the heart is significantly altered, which can lead to dangerous heart rhythms and even cardiac arrest.
Immediate medical attention is required for anyone experiencing symptoms of ACS, as prompt treatment can help prevent further damage to the heart muscle and reduce the risk of complications or death. Treatment options may include medications, lifestyle changes, and procedures such as angioplasty or bypass surgery.
Polycyctic Ovary Syndrome (PCOS) is a complex endocrine-metabolic disorder characterized by the presence of hyperandrogenism (excess male hormones), ovulatory dysfunction, and polycystic ovaries. The Rotterdam criteria are commonly used for diagnosis, which require at least two of the following three features:
1. Oligo- or anovulation (irregular menstrual cycles)
2. Clinical and/or biochemical signs of hyperandrogenism (e.g., hirsutism, acne, or high levels of androgens in the blood)
3. Polycystic ovaries on ultrasound examination (presence of 12 or more follicles measuring 2-9 mm in diameter, or increased ovarian volume >10 mL)
The exact cause of PCOS remains unclear, but it is believed to involve a combination of genetic and environmental factors. Insulin resistance and obesity are common findings in women with PCOS, which can contribute to the development of metabolic complications such as type 2 diabetes, dyslipidemia, and cardiovascular disease.
Management of PCOS typically involves a multidisciplinary approach that includes lifestyle modifications (diet, exercise, weight loss), medications to regulate menstrual cycles and reduce hyperandrogenism (e.g., oral contraceptives, metformin, anti-androgens), and fertility treatments if desired. Regular monitoring of metabolic parameters and long-term follow-up are essential for optimal management and prevention of complications.
Williams Syndrome is a rare genetic disorder caused by the deletion of a small portion of chromosome 7. This results in various developmental and medical problems, which can include:
1. Distinctive facial features such as a broad forehead, wide-set eyes, short nose, and full lips.
2. Cardiovascular disease, particularly narrowed or missing blood vessels near the heart.
3. Developmental delays and learning disabilities, although most people with Williams Syndrome have an IQ in the mild to moderate range of intellectual disability.
4. A unique pattern of strengths and weaknesses in cognitive skills, such as strong language skills but significant difficulty with visual-spatial tasks.
5. Overly friendly or sociable personality, often displaying a lack of fear or wariness around strangers.
6. Increased risk of anxiety and depression.
7. Sensitive hearing and poor depth perception.
8. Short stature in adulthood.
Williams Syndrome affects about 1 in every 10,000 people worldwide, regardless of race or ethnic background. It is not an inherited disorder, but rather a spontaneous genetic mutation.
A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.
I'm sorry for any confusion, but "Vietnam" is not a medical term. It is the name of a country located in Southeast Asia. If you have any questions about medical conditions or terminology, I would be happy to help clarify those for you.
Gait is a medical term used to describe the pattern of movement of the limbs during walking or running. It includes the manner or style of walking, including factors such as rhythm, speed, and step length. A person's gait can provide important clues about their physical health and neurological function, and abnormalities in gait may indicate the presence of underlying medical conditions, such as neuromuscular disorders, orthopedic problems, or injuries.
A typical human gait cycle involves two main phases: the stance phase, during which the foot is in contact with the ground, and the swing phase, during which the foot is lifted and moved forward in preparation for the next step. The gait cycle can be further broken down into several sub-phases, including heel strike, foot flat, midstance, heel off, and toe off.
Gait analysis is a specialized field of study that involves observing and measuring a person's gait pattern using various techniques, such as video recordings, force plates, and motion capture systems. This information can be used to diagnose and treat gait abnormalities, improve mobility and function, and prevent injuries.
DiGeorge syndrome is a genetic disorder caused by the deletion of a small piece of chromosome 22. It is also known as 22q11.2 deletion syndrome. The symptoms and severity can vary widely among affected individuals, but often include birth defects such as congenital heart disease, poor immune system function, and palatal abnormalities. Characteristic facial features, learning disabilities, and behavioral problems are also common. Some people with DiGeorge syndrome may have mild symptoms while others may be more severely affected. The condition is typically diagnosed through genetic testing. Treatment is focused on managing the specific symptoms and may include surgery, medications, and therapy.
Guillain-Barré syndrome (GBS) is a rare autoimmune disorder in which the body's immune system mistakenly attacks the peripheral nervous system, leading to muscle weakness, tingling sensations, and sometimes paralysis. The peripheral nervous system includes the nerves that control our movements and transmit signals from our skin, muscles, and joints to our brain.
The onset of GBS usually occurs after a viral or bacterial infection, such as respiratory or gastrointestinal infections, or following surgery, vaccinations, or other immune system triggers. The exact cause of the immune response that leads to GBS is not fully understood.
GBS typically progresses rapidly over days or weeks, with symptoms reaching their peak within 2-4 weeks after onset. Most people with GBS experience muscle weakness that starts in the lower limbs and spreads upward to the upper body, arms, and face. In severe cases, the diaphragm and chest muscles may become weakened, leading to difficulty breathing and requiring mechanical ventilation.
The diagnosis of GBS is based on clinical symptoms, nerve conduction studies, and sometimes cerebrospinal fluid analysis. Treatment typically involves supportive care, such as pain management, physical therapy, and respiratory support if necessary. In addition, plasma exchange (plasmapheresis) or intravenous immunoglobulin (IVIG) may be used to reduce the severity of symptoms and speed up recovery.
While most people with GBS recover completely or with minimal residual symptoms, some may experience long-term disability or require ongoing medical care. The prognosis for GBS varies depending on the severity of the illness and the individual's age and overall health.
Horner syndrome, also known as Horner's syndrome or oculosympathetic palsy, is a neurological disorder characterized by the interruption of sympathetic nerve pathways that innervate the head and neck, leading to a constellation of signs affecting the eye and face on one side of the body.
The classic triad of symptoms includes:
1. Ptosis (drooping) of the upper eyelid: This is due to the weakness or paralysis of the levator palpebrae superioris muscle, which is responsible for elevating the eyelid.
2. Miosis (pupillary constriction): The affected pupil becomes smaller in size compared to the other side, and it may not react as robustly to light.
3. Anhydrosis (decreased sweating): There is reduced or absent sweating on the ipsilateral (same side) of the face, particularly around the forehead and upper eyelid.
Horner syndrome can be caused by various underlying conditions, such as brainstem stroke, tumors, trauma, or certain medical disorders affecting the sympathetic nervous system. The diagnosis typically involves a thorough clinical examination, pharmacological testing, and sometimes imaging studies to identify the underlying cause. Treatment is directed towards managing the underlying condition responsible for Horner syndrome.
Prader-Willi Syndrome (PWS) is a genetic disorder that affects several parts of the body and is characterized by a range of symptoms including:
1. Developmental delays and intellectual disability.
2. Hypotonia (low muscle tone) at birth, which can lead to feeding difficulties in infancy.
3. Excessive appetite and obesity, typically beginning around age 2, due to a persistent hunger drive and decreased satiety.
4. Behavioral problems such as temper tantrums, stubbornness, and compulsive behaviors.
5. Hormonal imbalances leading to short stature, small hands and feet, incomplete sexual development, and decreased bone density.
6. Distinctive facial features including a thin upper lip, almond-shaped eyes, and a narrowed forehead.
7. Sleep disturbances such as sleep apnea or excessive daytime sleepiness.
PWS is caused by the absence of certain genetic material on chromosome 15, which results in abnormal gene function. It affects both males and females equally and has an estimated incidence of 1 in 10,000 to 30,000 live births. Early diagnosis and management can help improve outcomes for individuals with PWS.
Long QT syndrome (LQTS) is a cardiac electrical disorder characterized by a prolonged QT interval on the electrocardiogram (ECG), which can potentially trigger rapid, chaotic heartbeats known as ventricular tachyarrhythmias, such as torsades de pointes. These arrhythmias can be life-threatening and lead to syncope (fainting) or sudden cardiac death. LQTS is often congenital but may also be acquired due to certain medications, medical conditions, or electrolyte imbalances. It's essential to identify and manage LQTS promptly to reduce the risk of severe complications.
Flavivirus is a genus of viruses in the family Flaviviridae. They are enveloped, single-stranded, positive-sense RNA viruses that are primarily transmitted by arthropod vectors such as mosquitoes and ticks. Many flaviviruses cause significant disease in humans, including dengue fever, yellow fever, Japanese encephalitis, West Nile fever, and Zika fever. The name "flavivirus" is derived from the Latin word for "yellow," referring to the yellow fever virus, which was one of the first members of this genus to be discovered.
An amino acid sequence is the specific order of amino acids in a protein or peptide molecule, formed by the linking of the amino group (-NH2) of one amino acid to the carboxyl group (-COOH) of another amino acid through a peptide bond. The sequence is determined by the genetic code and is unique to each type of protein or peptide. It plays a crucial role in determining the three-dimensional structure and function of proteins.
Immunoglobulin M (IgM) is a type of antibody that is primarily found in the blood and lymph fluid. It is the first antibody to be produced in response to an initial exposure to an antigen, making it an important part of the body's primary immune response. IgM antibodies are large molecules that are composed of five basic units, giving them a pentameric structure. They are primarily found on the surface of B cells as membrane-bound immunoglobulins (mlgM), where they function as receptors for antigens. Once an mlgM receptor binds to an antigen, it triggers the activation and differentiation of the B cell into a plasma cell that produces and secretes large amounts of soluble IgM antibodies.
IgM antibodies are particularly effective at agglutination (clumping) and complement activation, which makes them important in the early stages of an immune response to help clear pathogens from the bloodstream. However, they are not as stable or long-lived as other types of antibodies, such as IgG, and their levels tend to decline after the initial immune response has occurred.
In summary, Immunoglobulin M (IgM) is a type of antibody that plays a crucial role in the primary immune response to antigens by agglutination and complement activation. It is primarily found in the blood and lymph fluid, and it is produced by B cells after they are activated by an antigen.
'Mosquito Control' is not a medical term per se, but it is a public health concept that refers to the systematic reduction or elimination of mosquito populations through various methods to prevent or minimize the transmission of mosquito-borne diseases. This multidisciplinary field involves entomologists, ecologists, engineers, and public health professionals working together to manage mosquito habitats, apply insecticides, and educate communities about personal protection measures. By controlling mosquito populations, we can significantly reduce the risk of contracting vector-borne illnesses such as malaria, dengue fever, yellow fever, Zika virus, and West Nile virus, among others.
Self-help devices, also known as assistive devices or adaptive equipment, are tools that help individuals perform activities of daily living (ADLs) that have become difficult or impossible due to disability, injury, or aging. These devices can help improve a person's independence, safety, and quality of life by reducing the physical demands of daily tasks and compensating for functional limitations.
Examples of self-help devices include:
1. Mobility aids: walkers, canes, crutches, wheelchairs, scooters, and prosthetics that help with mobility and balance.
2. Bathroom aids: raised toilet seats, shower chairs, grab bars, and non-slip mats that help with bathing and toileting.
3. Dressing aids: button hooks, zipper pulls, reachers, and dressing sticks that help with dressing and grooming.
4. Kitchen aids: easy-grip utensils, jar openers, and adapted cutting boards that help with meal preparation and cooking.
5. Communication aids: speech-generating devices, communication boards, and hearing aids that help with communication and social interaction.
6. Cognitive aids: memory aids, calendar organizers, and visual cues that help with memory, attention, and executive functioning.
It is important to consult with healthcare professionals, such as occupational therapists or physical therapists, to determine the appropriate self-help devices for an individual's specific needs and to ensure proper use and safety.
Hemolytic-Uremic Syndrome (HUS) is a serious condition that affects the blood and kidneys. It is characterized by three major features: the breakdown of red blood cells (hemolysis), the abnormal clotting of small blood vessels (microthrombosis), and acute kidney failure.
The breakdown of red blood cells leads to the release of hemoglobin into the bloodstream, which can cause anemia. The microthrombi can obstruct the flow of blood in the kidneys' filtering system (glomeruli), leading to damaged kidney function and potentially acute kidney failure.
HUS is often caused by a bacterial infection, most commonly Escherichia coli (E. coli) that produces Shiga toxins. This form of HUS is known as STEC-HUS or Stx-HUS. Other causes include infections with other bacteria, viruses, medications, pregnancy complications, and certain medical conditions such as autoimmune diseases.
Symptoms of HUS may include fever, fatigue, decreased urine output, blood in the stool, swelling in the face, hands, or feet, and irritability or confusion. Treatment typically involves supportive care, including dialysis for kidney failure, transfusions to replace lost red blood cells, and managing high blood pressure. In severe cases, a kidney transplant may be necessary.
Serotyping is a laboratory technique used to classify microorganisms, such as bacteria and viruses, based on the specific antigens or proteins present on their surface. It involves treating the microorganism with different types of antibodies and observing which ones bind to its surface. Each distinct set of antigens corresponds to a specific serotype, allowing for precise identification and characterization of the microorganism. This technique is particularly useful in epidemiology, vaccine development, and infection control.
Crutches are medical devices that provide support and assistance for mobility, typically used by individuals who have difficulty walking or standing due to injury, illness, or disability. They help to reduce weight-bearing stress on the affected limb, improve balance, and increase stability during ambulation. Crutches can be either manually operated or designed with special features such as springs or shock absorbers to enhance comfort and functionality. Proper fit, adjustment, and usage of crutches are crucial for ensuring safety, preventing further injury, and promoting rehabilitation.
Compartment syndromes refer to a group of conditions characterized by increased pressure within a confined anatomical space (compartment), leading to impaired circulation and nerve function. These compartments are composed of bones, muscles, tendons, blood vessels, and nerves, surrounded by a tough fibrous fascial covering that does not expand easily.
There are two main types of compartment syndromes: acute and chronic.
1. Acute Compartment Syndrome (ACS): This is a medical emergency that typically occurs after trauma, fractures, or prolonged compression of the affected limb. The increased pressure within the compartment reduces blood flow to the muscles and nerves, causing ischemia, pain, and potential muscle and nerve damage if not promptly treated with fasciotomy (surgical release of the fascial covering). Symptoms include severe pain disproportionate to the injury, pallor, paresthesia (abnormal sensation), pulselessness, and paralysis.
2. Chronic Compartment Syndrome (CCS) or Exertional Compartment Syndrome: This condition is caused by repetitive physical activities that lead to increased compartment pressure over time. The symptoms are usually reversible with rest and may include aching, cramping, tightness, or swelling in the affected limb during exercise. CCS rarely leads to permanent muscle or nerve damage if managed appropriately with activity modification, physical therapy, and occasionally surgical intervention (fasciotomy or fasciectomy).
Early recognition and appropriate management of compartment syndromes are crucial for preventing long-term complications such as muscle necrosis, contractures, and nerve damage.
Tourette Syndrome (TS) is a neurological disorder characterized by the presence of multiple motor tics and at least one vocal (phonic) tic. These tics are sudden, repetitive, rapid, involuntary movements or sounds that occur for more than a year and are not due to substance use or other medical conditions. The symptoms typically start before the age of 18, with the average onset around 6-7 years old.
The severity, frequency, and types of tics can vary greatly among individuals with TS and may change over time. Common motor tics include eye blinking, facial grimacing, shoulder shrugging, and head or limb jerking. Vocal tics can range from simple sounds like throat clearing, coughing, or barking to more complex phrases or words.
In some cases, TS may be accompanied by co-occurring conditions such as attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), anxiety, and depression. These associated symptoms can sometimes have a greater impact on daily functioning than the tics themselves.
The exact cause of Tourette Syndrome remains unclear, but it is believed to involve genetic factors and abnormalities in certain brain regions involved in movement control and inhibition. There is currently no cure for TS, but various treatments, including behavioral therapy and medications, can help manage the symptoms and improve quality of life.
Balsams are a type of resinous substance that is produced by trees and plants. They have been used historically in medicine for their therapeutic properties, particularly as an expectorant and anti-inflammatory agent. Some common balsams used in medicine include:
1. Canada Balsam (Abies balsamea): A resin obtained from the bark of the balsam fir tree, which has been used in medicine for its antiseptic and anti-inflammatory properties. It is also used as a cement or adhesive in microscopy.
2. Tolu Balsam (Myroxylon balsamum): A resin obtained from the bark of the tree Myroxylon balsamum, which is native to Central and South America. It has been used in medicine for its expectorant, antispasmodic, and analgesic properties.
3. Peru Balsam (Myroxylon pereirae): A resin obtained from the tree Myroxylon pereirae, which is native to Central America. It has been used in medicine for its antiseptic, anti-inflammatory, and analgesic properties.
4. Benzoin Balsam (Styrax benzoin): A resin obtained from the tree Styrax benzoin, which is native to Southeast Asia. It has been used in medicine for its expectorant, antiseptic, and anti-inflammatory properties.
It's important to note that balsams can cause skin irritation and allergic reactions in some people, so they should be used with caution and under the guidance of a healthcare professional.
Antiphospholipid syndrome (APS) is an autoimmune disorder characterized by the presence of antiphospholipid antibodies in the blood. These antibodies are directed against phospholipids, a type of fat molecule found in cell membranes and plasma lipoproteins. The presence of these antibodies can lead to abnormal blood clotting, which can cause serious complications such as stroke, heart attack, deep vein thrombosis, and pulmonary embolism.
APS can occur either on its own (primary APS) or in conjunction with other autoimmune disorders, such as systemic lupus erythematosus (secondary APS). The exact cause of APS is not fully understood, but it is believed to involve a combination of genetic and environmental factors.
Symptoms of APS can vary widely depending on the location and severity of the blood clots. They may include:
* Recurrent miscarriages or stillbirths
* Blood clots in the legs, lungs, or other parts of the body
* Skin ulcers or lesions
* Headaches, seizures, or stroke-like symptoms
* Kidney problems
* Heart valve abnormalities
Diagnosis of APS typically involves blood tests to detect the presence of antiphospholipid antibodies. Treatment may include medications to prevent blood clots, such as anticoagulants and antiplatelet agents, as well as management of any underlying autoimmune disorders.
In the field of medicine, "time factors" refer to the duration of symptoms or time elapsed since the onset of a medical condition, which can have significant implications for diagnosis and treatment. Understanding time factors is crucial in determining the progression of a disease, evaluating the effectiveness of treatments, and making critical decisions regarding patient care.
For example, in stroke management, "time is brain," meaning that rapid intervention within a specific time frame (usually within 4.5 hours) is essential to administering tissue plasminogen activator (tPA), a clot-busting drug that can minimize brain damage and improve patient outcomes. Similarly, in trauma care, the "golden hour" concept emphasizes the importance of providing definitive care within the first 60 minutes after injury to increase survival rates and reduce morbidity.
Time factors also play a role in monitoring the progression of chronic conditions like diabetes or heart disease, where regular follow-ups and assessments help determine appropriate treatment adjustments and prevent complications. In infectious diseases, time factors are crucial for initiating antibiotic therapy and identifying potential outbreaks to control their spread.
Overall, "time factors" encompass the significance of recognizing and acting promptly in various medical scenarios to optimize patient outcomes and provide effective care.
Porcine Reproductive and Respiratory Syndrome (PRRS) is a viral disease that affects pigs, causing reproductive failure in breeding herds and respiratory illness in young pigs. The disease is caused by the PRRS virus, which belongs to the family Arteriviridae.
In pregnant sows, PRRS can cause abortions, stillbirths, mummified fetuses, and weak or infertile offspring. In growing pigs, it can lead to pneumonia, reduced growth rates, and increased susceptibility to other infections. The virus is highly contagious and can spread rapidly within a herd through direct contact with infected pigs, aerosols, or contaminated fomites.
PRRS is a significant disease of global importance, causing substantial economic losses to the swine industry. Control measures include biosecurity practices, vaccination, and testing to detect and eliminate the virus from affected herds. However, there is no specific treatment for PRRS, and eradication of the virus from the pig population is unlikely due to its widespread distribution and ability to persist in infected animals and the environment.
Adenosine Triphosphate (ATP) is a high-energy molecule that stores and transports energy within cells. It is the main source of energy for most cellular processes, including muscle contraction, nerve impulse transmission, and protein synthesis. ATP is composed of a base (adenine), a sugar (ribose), and three phosphate groups. The bonds between these phosphate groups contain a significant amount of energy, which can be released when the bond between the second and third phosphate group is broken, resulting in the formation of adenosine diphosphate (ADP) and inorganic phosphate. This process is known as hydrolysis and can be catalyzed by various enzymes to drive a wide range of cellular functions. ATP can also be regenerated from ADP through various metabolic pathways, such as oxidative phosphorylation or substrate-level phosphorylation, allowing for the continuous supply of energy to cells.
I'm sorry for any confusion, but "Puerto Rico" is not a medical term. It is a territorial possession of the United States, located in the northeastern Caribbean Sea. It includes the main island of Puerto Rico and various smaller islands. If you have any questions about a medical topic, please provide more details so I can try to help answer your question.
Adenosine triphosphatases (ATPases) are a group of enzymes that catalyze the conversion of adenosine triphosphate (ATP) into adenosine diphosphate (ADP) and inorganic phosphate. This reaction releases energy, which is used to drive various cellular processes such as muscle contraction, transport of ions across membranes, and synthesis of proteins and nucleic acids.
ATPases are classified into several types based on their structure, function, and mechanism of action. Some examples include:
1. P-type ATPases: These ATPases form a phosphorylated intermediate during the reaction cycle and are involved in the transport of ions across membranes, such as the sodium-potassium pump and calcium pumps.
2. F-type ATPases: These ATPases are found in mitochondria, chloroplasts, and bacteria, and are responsible for generating a proton gradient across the membrane, which is used to synthesize ATP.
3. V-type ATPases: These ATPases are found in vacuolar membranes and endomembranes, and are involved in acidification of intracellular compartments.
4. A-type ATPases: These ATPases are found in the plasma membrane and are involved in various functions such as cell signaling and ion transport.
Overall, ATPases play a crucial role in maintaining the energy balance of cells and regulating various physiological processes.
Klinefelter Syndrome: A genetic disorder in males, caused by the presence of one or more extra X chromosomes, typically resulting in XXY karyotype. It is characterized by small testes, infertility, gynecomastia (breast enlargement), tall stature, and often mild to moderate intellectual disability. The symptoms can vary greatly among individuals with Klinefelter Syndrome. Some men may not experience any significant health problems and may never be diagnosed, while others may have serious medical or developmental issues that require treatment. It is one of the most common chromosomal disorders, affecting about 1 in every 500-1,000 newborn males.
Amino acid motifs are recurring patterns or sequences of amino acids in a protein molecule. These motifs can be identified through various sequence analysis techniques and often have functional or structural significance. They can be as short as two amino acids in length, but typically contain at least three to five residues.
Some common examples of amino acid motifs include:
1. Active site motifs: These are specific sequences of amino acids that form the active site of an enzyme and participate in catalyzing chemical reactions. For example, the catalytic triad in serine proteases consists of three residues (serine, histidine, and aspartate) that work together to hydrolyze peptide bonds.
2. Signal peptide motifs: These are sequences of amino acids that target proteins for secretion or localization to specific organelles within the cell. For example, a typical signal peptide consists of a positively charged n-region, a hydrophobic h-region, and a polar c-region that directs the protein to the endoplasmic reticulum membrane for translocation.
3. Zinc finger motifs: These are structural domains that contain conserved sequences of amino acids that bind zinc ions and play important roles in DNA recognition and regulation of gene expression.
4. Transmembrane motifs: These are sequences of hydrophobic amino acids that span the lipid bilayer of cell membranes and anchor transmembrane proteins in place.
5. Phosphorylation sites: These are specific serine, threonine, or tyrosine residues that can be phosphorylated by protein kinases to regulate protein function.
Understanding amino acid motifs is important for predicting protein structure and function, as well as for identifying potential drug targets in disease-associated proteins.
Carpal Tunnel Syndrome (CTS) is a common peripheral nerve disorder that affects the median nerve, which runs from the forearm into the hand through a narrow tunnel-like structure in the wrist called the carpal tunnel. The condition is caused by compression or pinching of the median nerve as it passes through this tunnel, leading to various symptoms such as numbness, tingling, and weakness in the hand and fingers.
The median nerve provides sensation to the thumb, index finger, middle finger, and half of the ring finger. It also controls some small muscles in the hand that allow for fine motor movements. When the median nerve is compressed or damaged due to CTS, it can result in a range of symptoms including:
1. Numbness, tingling, or burning sensations in the fingers (especially the thumb, index finger, middle finger, and half of the ring finger)
2. Pain or discomfort in the hand, wrist, or forearm
3. Weakness in the hand, leading to difficulty gripping objects or making a fist
4. A sensation of swelling or inflammation in the fingers, even if there is no visible swelling present
5. Nighttime symptoms that may disrupt sleep patterns
The exact cause of Carpal Tunnel Syndrome can vary from person to person, but some common risk factors include:
1. Repetitive hand and wrist motions (such as typing, writing, or using tools)
2. Prolonged exposure to vibrations (from machinery or power tools)
3. Wrist trauma or fractures
4. Pregnancy and hormonal changes
5. Certain medical conditions like diabetes, rheumatoid arthritis, and thyroid disorders
6. Obesity
7. Smoking
Diagnosis of Carpal Tunnel Syndrome typically involves a physical examination, medical history review, and sometimes specialized tests like nerve conduction studies or electromyography to confirm the diagnosis and assess the severity of the condition. Treatment options may include splinting, medication, corticosteroid injections, and in severe cases, surgery to relieve pressure on the median nerve.
An Enzyme-Linked Immunosorbent Assay (ELISA) is a type of analytical biochemistry assay used to detect and quantify the presence of a substance, typically a protein or peptide, in a liquid sample. It takes its name from the enzyme-linked antibodies used in the assay.
In an ELISA, the sample is added to a well containing a surface that has been treated to capture the target substance. If the target substance is present in the sample, it will bind to the surface. Next, an enzyme-linked antibody specific to the target substance is added. This antibody will bind to the captured target substance if it is present. After washing away any unbound material, a substrate for the enzyme is added. If the enzyme is present due to its linkage to the antibody, it will catalyze a reaction that produces a detectable signal, such as a color change or fluorescence. The intensity of this signal is proportional to the amount of target substance present in the sample, allowing for quantification.
ELISAs are widely used in research and clinical settings to detect and measure various substances, including hormones, viruses, and bacteria. They offer high sensitivity, specificity, and reproducibility, making them a reliable choice for many applications.
Werner Syndrome is a rare, autosomal recessive genetic disorder characterized by the appearance of premature aging. It's often referred to as "progeria of the adult" or "adult progeria." The syndrome is caused by mutations in the WRN gene, which provides instructions for making a protein involved in repairing damaged DNA and maintaining the stability of the genetic information.
The symptoms typically begin in a person's late teens or early twenties and may include:
- Short stature
- Premature graying and loss of hair
- Skin changes, such as scleroderma (a thickening and hardening of the skin) and ulcers
- Voice changes
- Type 2 diabetes
- Cataracts
- Atherosclerosis (the buildup of fats, cholesterol, and other substances in and on the artery walls)
- Increased risk of cancer
The life expectancy of individuals with Werner Syndrome is typically around 45 to 50 years. It's important to note that while there are similarities between Werner Syndrome and other forms of progeria, such as Hutchinson-Gilford Progeria Syndrome, they are distinct conditions with different genetic causes and clinical features.
A cell line is a culture of cells that are grown in a laboratory for use in research. These cells are usually taken from a single cell or group of cells, and they are able to divide and grow continuously in the lab. Cell lines can come from many different sources, including animals, plants, and humans. They are often used in scientific research to study cellular processes, disease mechanisms, and to test new drugs or treatments. Some common types of human cell lines include HeLa cells (which come from a cancer patient named Henrietta Lacks), HEK293 cells (which come from embryonic kidney cells), and HUVEC cells (which come from umbilical vein endothelial cells). It is important to note that cell lines are not the same as primary cells, which are cells that are taken directly from a living organism and have not been grown in the lab.
Reye Syndrome is a rare but serious condition that primarily affects children and teenagers, particularly those who have recently recovered from viral infections such as chickenpox or flu. It is characterized by rapidly progressive encephalopathy (brain dysfunction) and fatty degeneration of the liver.
The exact cause of Reye Syndrome remains unknown, but it has been linked to the use of aspirin and other salicylate-containing medications during viral illnesses. The American Academy of Pediatrics recommends avoiding the use of aspirin in children and teenagers with chickenpox or flu-like symptoms due to this association.
Early symptoms of Reye Syndrome include persistent vomiting, diarrhea, and listlessness. As the condition progresses, symptoms can worsen and may include disorientation, seizures, coma, and even death in severe cases. Diagnosis is typically based on clinical presentation, laboratory tests, and sometimes a liver biopsy.
Treatment for Reye Syndrome involves supportive care, such as fluid and electrolyte management, addressing metabolic abnormalities, controlling intracranial pressure, and providing ventilatory support if necessary. Early recognition and intervention are crucial to improving outcomes in affected individuals.
Bartter syndrome is a rare genetic disorder that affects the kidneys' ability to reabsorb sodium and chloride, leading to an imbalance of electrolytes in the body. This condition is characterized by hypokalemia (low potassium levels), metabolic alkalosis (high pH levels in the blood), and normal or low blood pressure. It can also result in increased urine production, excessive thirst, and growth retardation in children. There are two major types of Bartter syndrome, based on the genes affected: type I caused by mutations in the SLC12A1 gene, and type II caused by mutations in the KCNJ1 gene. Type III is caused by mutations in the CLCNKB gene, while type IV is caused by mutations in the BSND or CLCNKB genes. Treatment typically involves supplementation of electrolytes, such as potassium and magnesium, as well as nonsteroidal anti-inflammatory drugs (NSAIDs) to help reduce sodium loss in the urine.
I'm sorry for any confusion, but "travel" is not a term that has a specific medical definition. In general, travel refers to the act of moving or journeying from one place to another, often over long distances. However, in a medical context, it might refer to the recommendation that individuals with certain medical conditions or those who are immunocompromised avoid traveling to areas where they may be at increased risk of exposure to infectious diseases. It's always best to check with a healthcare professional for advice related to specific medical situations and travel.
A base sequence in the context of molecular biology refers to the specific order of nucleotides in a DNA or RNA molecule. In DNA, these nucleotides are adenine (A), guanine (G), cytosine (C), and thymine (T). In RNA, uracil (U) takes the place of thymine. The base sequence contains genetic information that is transcribed into RNA and ultimately translated into proteins. It is the exact order of these bases that determines the genetic code and thus the function of the DNA or RNA molecule.
I apologize, but "Brazil" is not a medical term or condition. It is the largest country in both South America and Latin America by land area and population. If you have any questions related to medical terminology or health concerns, please provide more information and I will do my best to help.
Porcine Respiratory and Reproductive Syndrome Virus (PRRSV) is an enveloped, positive-stranded RNA virus belonging to the Arteriviridae family. It is the causative agent of Porcine Respiratory and Reproductive Syndrome (PRRS), also known as "blue ear disease" or "porcine reproductive and respiratory syndrome."
The virus primarily affects pigs, causing a wide range of clinical signs including respiratory distress in young animals and reproductive failure in pregnant sows. The infection can lead to late-term abortions, stillbirths, premature deliveries, and weak or mummified fetuses. In growing pigs, PRRSV can cause pneumonia, which is often accompanied by secondary bacterial infections.
PRRSV has a tropism for cells of the monocyte-macrophage lineage, and it replicates within these cells, leading to the release of pro-inflammatory cytokines and the development of the clinical signs associated with the disease. The virus is highly infectious and can spread rapidly in susceptible pig populations, making it a significant concern for the swine industry worldwide.
It's important to note that PRRSV has two distinct genotypes: Type 1 (European) and Type 2 (North American). Both types have a high degree of genetic diversity, which can make controlling the virus challenging. Vaccination is available for PRRSV, but it may not provide complete protection against all strains of the virus, and it may not prevent infection or shedding. Therefore, biosecurity measures, such as strict sanitation and animal movement controls, are critical to preventing the spread of this virus in pig populations.
HELLP syndrome is a serious complication in pregnancy, characterized by Hemolysis (the breakdown of red blood cells), Elevated Liver enzymes, and Low Platelet count. It is often considered a variant of severe preeclampsia or eclampsia, although it can also occur without these conditions.
The symptoms of HELLP syndrome include headache, nausea and vomiting, upper right abdominal pain, and visual disturbances. It can lead to serious complications for both the mother and the baby, such as liver failure, placental abruption, disseminated intravascular coagulation (DIC), and even death if not promptly diagnosed and treated.
The exact cause of HELLP syndrome is not known, but it is thought to be related to problems with the blood vessels that supply the placenta. Treatment typically involves delivering the baby as soon as possible, even if the baby is premature. Women who have had HELLP syndrome are at increased risk for complications in future pregnancies.
A disease vector is a living organism that transmits infectious pathogens from one host to another. These vectors can include mosquitoes, ticks, fleas, and other arthropods that carry viruses, bacteria, parasites, or other disease-causing agents. The vector becomes infected with the pathogen after biting an infected host, and then transmits the infection to another host through its saliva or feces during a subsequent blood meal.
Disease vectors are of particular concern in public health because they can spread diseases rapidly and efficiently, often over large geographic areas. Controlling vector-borne diseases requires a multifaceted approach that includes reducing vector populations, preventing bites, and developing vaccines or treatments for the associated diseases.
Bloom syndrome is a rare genetic disorder characterized by short stature, sun-sensitive skin rash, and an increased risk of developing cancer. It is caused by mutations in the BLM gene, which provides instructions for making a protein that helps prevent tangles and knots from forming in DNA during cell division. As a result, cells with Bloom syndrome have a high rate of genetic recombination, leading to chromosomal instability and an increased risk of cancer.
Individuals with Bloom syndrome typically have a distinctive facial appearance, including a narrow face, small jaw, and a prominent nose. They may also have learning disabilities, fertility problems, and an increased susceptibility to infections. The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the disorder. Bloom syndrome is typically diagnosed through genetic testing and chromosome analysis. Treatment is focused on managing the symptoms and reducing the risk of cancer through regular screenings and lifestyle modifications.
Brugada Syndrome is a genetic disorder characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. It is typically caused by a mutation in the SCN5A gene, which encodes for a sodium channel protein in the heart. This mutation can lead to abnormal ion transport in the heart cells, causing changes in the electrical activity of the heart that can trigger dangerous arrhythmias.
The ECG findings associated with Brugada Syndrome include a distinct pattern of ST-segment elevation in the right precordial leads (V1-V3), which can appear spontaneously or be induced by certain medications. The syndrome is often classified into two types based on the presence or absence of symptoms:
* Type 1 Brugada Syndrome: This type is characterized by a coved-type ST-segment elevation of at least 2 mm in height in at least one right precordial lead, with a negative T wave. This pattern must be present to make the diagnosis, and it should not be transient or induced by any medication or condition. Type 1 Brugada Syndrome is associated with a higher risk of sudden cardiac death.
* Type 2 Brugada Syndrome: This type is characterized by a saddleback-type ST-segment elevation of at least 2 mm in height in at least one right precordial lead, with a positive or biphasic T wave. The ST segment should return to the baseline level or below within 0.08 seconds after the J point (the junction between the QRS complex and the ST segment). Type 2 Brugada Syndrome is associated with a lower risk of sudden cardiac death compared to Type 1, but it can still pose a significant risk in some individuals.
Brugada Syndrome can affect people of any age, gender, or ethnicity, although it is more commonly diagnosed in middle-aged men of Asian descent. The syndrome can be inherited in an autosomal dominant manner, meaning that a child has a 50% chance of inheriting the mutation from a parent who carries the gene. However, not all individuals with the genetic mutation will develop symptoms or have abnormal ECG findings.
Treatment for Brugada Syndrome typically involves implanting a cardioverter-defibrillator (ICD) to prevent sudden cardiac death. Medications such as quinidine or isoproterenol may also be used to reduce the risk of arrhythmias. Lifestyle modifications, such as avoiding alcohol and certain medications that can trigger arrhythmias, may also be recommended.
In epidemiology, the incidence of a disease is defined as the number of new cases of that disease within a specific population over a certain period of time. It is typically expressed as a rate, with the number of new cases in the numerator and the size of the population at risk in the denominator. Incidence provides information about the risk of developing a disease during a given time period and can be used to compare disease rates between different populations or to monitor trends in disease occurrence over time.
Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that affect connective tissues, which are the proteins and chemicals in the body that provide structure and support for skin, bones, blood vessels, and other organs. People with EDS have stretching (elastic) skin and joints that are too loose (hypermobile). There are several types of EDS, each with its own set of symptoms and level of severity. Some of the more common types include:
* Classical EDS: This type is characterized by skin that can be stretched far beyond normal and bruises easily. Affected individuals may also have joints that dislocate easily.
* Hypermobile EDS: This type is marked by joint hypermobility, which can lead to frequent dislocations and subluxations (partial dislocations). Some people with this type of EDS also have Marfan syndrome-like features, such as long fingers and a curved spine.
* Vascular EDS: This type is caused by changes in the COL3A1 gene and is characterized by thin, fragile skin that tears or bruises easily. People with vascular EDS are at risk of serious complications, such as arterial rupture and organ perforation.
* Kyphoscoliosis EDS: This type is marked by severe kyphoscoliosis (a forward curvature of the spine) and joint laxity. Affected individuals may also have fragile skin that tears or bruises easily.
EDS is typically inherited in an autosomal dominant manner, meaning that a person only needs to inherit one copy of the altered gene from either parent to develop the condition. However, some types of EDS are inherited in an autosomal recessive manner, which means that a person must inherit two copies of the altered gene (one from each parent) to develop the condition.
There is no cure for EDS, and treatment is focused on managing symptoms and preventing complications. This may include physical therapy to strengthen muscles and improve joint stability, bracing to support joints, and surgery to repair damaged tissues or organs.
A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.
Respiratory Distress Syndrome, Adult (RDSa or ARDS), also known as Acute Respiratory Distress Syndrome, is a severe form of acute lung injury characterized by rapid onset of widespread inflammation in the lungs. This results in increased permeability of the alveolar-capillary membrane, pulmonary edema, and hypoxemia (low oxygen levels in the blood). The inflammation can be triggered by various direct or indirect insults to the lung, such as sepsis, pneumonia, trauma, or aspiration.
The hallmark of ARDS is the development of bilateral pulmonary infiltrates on chest X-ray, which can resemble pulmonary edema, but without evidence of increased left atrial pressure. The condition can progress rapidly and may require mechanical ventilation with positive end-expiratory pressure (PEEP) to maintain adequate oxygenation and prevent further lung injury.
The management of ARDS is primarily supportive, focusing on protecting the lungs from further injury, optimizing oxygenation, and providing adequate nutrition and treatment for any underlying conditions. The use of low tidal volumes and limiting plateau pressures during mechanical ventilation have been shown to improve outcomes in patients with ARDS.
Angelman Syndrome is a genetic disorder that affects the nervous system and is characterized by intellectual disability, developmental delay, lack of speech or limited speech, movement and balance disorders, and a happy, excitable demeanor. Individuals with Angelman Syndrome often have a distinctive facial appearance, including widely spaced teeth, a wide mouth, and protruding tongue. Seizures are also common in individuals with this condition.
The disorder is caused by the absence or malfunction of a gene called UBE3A, which is located on chromosome 15. In about 70% of cases, the deletion of a portion of chromosome 15 that includes the UBE3A gene is responsible for the syndrome. In other cases, mutations in the UBE3A gene or inheritance of two copies of chromosome 15 from the father (uniparental disomy) can cause the disorder.
There is no cure for Angelman Syndrome, but early intervention with physical therapy, speech therapy, and other supportive therapies can help improve outcomes. Anticonvulsant medications may be used to manage seizures. The prognosis for individuals with Angelman Syndrome varies, but most are able to live active, fulfilling lives with appropriate support and care.
A viral RNA (ribonucleic acid) is the genetic material found in certain types of viruses, as opposed to viruses that contain DNA (deoxyribonucleic acid). These viruses are known as RNA viruses. The RNA can be single-stranded or double-stranded and can exist as several different forms, such as positive-sense, negative-sense, or ambisense RNA. Upon infecting a host cell, the viral RNA uses the host's cellular machinery to translate the genetic information into proteins, leading to the production of new virus particles and the continuation of the viral life cycle. Examples of human diseases caused by RNA viruses include influenza, COVID-19 (SARS-CoV-2), hepatitis C, and polio.
I'm sorry for any confusion, but "seasons" is not a term that has a medical definition. Seasons refer to the four divisions of the year (spring, summer, autumn or fall, and winter) based on the position of the earth in its orbit around the sun. If you have any questions related to health or medicine, I'd be happy to try to help answer those!
I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.
Viral envelope proteins are structural proteins found in the envelope that surrounds many types of viruses. These proteins play a crucial role in the virus's life cycle, including attachment to host cells, fusion with the cell membrane, and entry into the host cell. They are typically made up of glycoproteins and are often responsible for eliciting an immune response in the host organism. The exact structure and function of viral envelope proteins vary between different types of viruses.
A newborn infant is a baby who is within the first 28 days of life. This period is also referred to as the neonatal period. Newborns require specialized care and attention due to their immature bodily systems and increased vulnerability to various health issues. They are closely monitored for signs of well-being, growth, and development during this critical time.
Medical Definition:
"Risk factors" are any attribute, characteristic or exposure of an individual that increases the likelihood of developing a disease or injury. They can be divided into modifiable and non-modifiable risk factors. Modifiable risk factors are those that can be changed through lifestyle choices or medical treatment, while non-modifiable risk factors are inherent traits such as age, gender, or genetic predisposition. Examples of modifiable risk factors include smoking, alcohol consumption, physical inactivity, and unhealthy diet, while non-modifiable risk factors include age, sex, and family history. It is important to note that having a risk factor does not guarantee that a person will develop the disease, but rather indicates an increased susceptibility.
Severe Acute Respiratory Syndrome (SARS) is a viral respiratory illness characterized by fever, cough, shortness of breath, and sometimes severe pneumonia. It is caused by the SARS coronavirus (SARS-CoV).
The syndrome is considered severe due to its potential to cause rapid spread in communities and healthcare settings, and for its high case fatality rate. In the global outbreak of 2002-2003, approximately 8,000 people were infected and nearly 800 died. Since then, no large outbreaks have been reported, although there have been isolated cases linked to laboratory accidents or animal exposures.
SARS is transmitted through close contact with an infected person's respiratory droplets, such as when they cough or sneeze. It can also be spread by touching a surface contaminated with the virus and then touching the mouth, nose, or eyes. Healthcare workers and others in close contact with infected individuals are at higher risk of infection.
Preventive measures include good personal hygiene, such as frequent handwashing, wearing masks and other protective equipment when in close contact with infected individuals, and practicing respiratory etiquette (covering the mouth and nose when coughing or sneezing). Infected individuals should be isolated and receive appropriate medical care to help manage their symptoms and prevent transmission to others.
Restless Legs Syndrome (RLS) is a neurological disorder characterized by an irresistible urge to move one's body to stop uncomfortable or odd sensations. It most commonly affects the legs. The condition worsens during periods of rest, particularly when lying or sitting.
The symptoms typically include:
1. An uncontrollable need or urge to move the legs to relieve uncomfortable sensations such as crawling, creeping, tingling, pulling, or painful feelings.
2. Symptoms begin or intensify during rest or inactivity.
3. Symptoms are partially or totally relieved by movement, such as walking or stretching, at least as long as the activity continues.
4. Symptoms are worse in the evening or night, often leading to disturbed sleep.
The exact cause of RLS is unknown, but it may be related to abnormalities in the brain's dopamine pathways that control muscle movements. It can also be associated with certain medical conditions like iron deficiency, kidney disease, diabetes, and pregnancy. Treatment often involves addressing any underlying conditions and using medications to manage symptoms.
An antigen is any substance that can stimulate an immune response, particularly the production of antibodies. Viral antigens are antigens that are found on or produced by viruses. They can be proteins, glycoproteins, or carbohydrates present on the surface or inside the viral particle.
Viral antigens play a crucial role in the immune system's recognition and response to viral infections. When a virus infects a host cell, it may display its antigens on the surface of the infected cell. This allows the immune system to recognize and target the infected cells for destruction, thereby limiting the spread of the virus.
Viral antigens are also important targets for vaccines. Vaccines typically work by introducing a harmless form of a viral antigen to the body, which then stimulates the production of antibodies and memory T-cells that can recognize and respond quickly and effectively to future infections with the actual virus.
It's worth noting that different types of viruses have different antigens, and these antigens can vary between strains of the same virus. This is why there are often different vaccines available for different viral diseases, and why flu vaccines need to be updated every year to account for changes in the circulating influenza virus strains.
Job Syndrome is a rare primary immunodeficiency disorder, also known as Hyper-IgE Syndrome (HIES). It is characterized by the triad of recurrent staphylococcal skin abscesses, recurrent pulmonary infections, and elevated serum IgE levels.
The condition was first described in 1966 by Dr. Angelo A. Pedrioli et al., in a patient with eczema, recurrent staphylococcal abscesses, and severe lung infections, whose name was later used to describe the syndrome (Job's Syndrome).
The clinical features of Job Syndrome include:
1. Recurrent skin abscesses and boils, often on the face, neck, and upper extremities.
2. Cold-stimulated erythema (cold-induced urticaria) and recurrent herpes simplex infections.
3. Recurrent pulmonary infections, such as pneumonia, bronchitis, and lung abscesses.
4. High levels of IgE antibodies in the blood (hyper-IgE).
5. Characteristic facial features, including a broad nasal bridge, deep-set eyes, and prognathism (protruding jaw).
6. Scoliosis, joint hypermobility, and connective tissue abnormalities.
7. Increased susceptibility to fungal infections, such as candidiasis.
8. Bone fractures and osteopenia.
The genetic basis of Job Syndrome is a mutation in the STAT3 gene, which encodes a transcription factor that regulates immune responses, cell growth, and differentiation. The diagnosis of Job Syndrome is based on clinical criteria and laboratory tests, including IgE levels and genetic testing for STAT3 mutations.
Treatment of Job Syndrome includes antibiotics for bacterial infections, antifungal agents for fungal infections, and prophylactic antibiotics to prevent recurrent infections. In addition, immunoglobulin replacement therapy may be used to boost the patient's immune system.
Job Syndrome is a rare genetic disorder that affects multiple organ systems, including the immune system, bones, and connective tissue. Early diagnosis and treatment can improve outcomes and quality of life for affected individuals.
Wiskott-Aldrich Syndrome (WAS) is a rare X-linked recessive primary immunodeficiency disorder characterized by the triad of microthrombocytopenia, eczema, and recurrent infections. It is caused by mutations in the WAS gene, which encodes the Wiskott-Aldrich syndrome protein (WASp), a key regulator of actin cytoskeleton reorganization in hematopoietic cells.
The clinical features of WAS include:
1. Microthrombocytopenia: This is characterized by small platelet size and low platelet count, leading to an increased risk of bleeding.
2. Eczema: This is a chronic inflammatory skin disorder that can cause itching, redness, and scaly patches on the skin.
3. Recurrent infections: Patients with WAS are susceptible to bacterial, viral, and fungal infections due to impaired immune function.
Other clinical manifestations of WAS may include autoimmune disorders, lymphoma, and inflammatory bowel disease. The severity of the disease can vary widely among patients, ranging from mild to severe. Treatment options for WAS include hematopoietic stem cell transplantation (HSCT), gene therapy, and supportive care measures such as antibiotics, immunoglobulin replacement therapy, and platelet transfusions.
The "Americas" is a term used to refer to the combined landmasses of North America and South America, which are separated by the Isthmus of Panama. The Americas also include numerous islands in the Caribbean Sea, Atlantic Ocean, and Pacific Ocean. This region is home to a diverse range of cultures, ecosystems, and historical sites. It is named after the Italian explorer Amerigo Vespucci, who was one of the first Europeans to explore and map parts of South America in the late 15th century.
I'm sorry for any confusion, but "Singapore" is not a medical term or concept. It is a sovereign city-state and island country in Southeast Asia. If you have any questions related to medical topics or definitions, I would be happy to try and help answer those for you!
Paraneoplastic syndromes refer to a group of rare disorders that are caused by an abnormal immune system response to a cancerous (malignant) tumor. These syndromes are characterized by symptoms or signs that do not result directly from the growth of the tumor itself, but rather from substances produced by the tumor or the body's immune system in response to the tumor.
Paraneoplastic syndromes can affect various organs and systems in the body, including the nervous system, endocrine system, skin, and joints. Examples of paraneoplastic syndromes include Lambert-Eaton myasthenic syndrome (LEMS), which affects nerve function and causes muscle weakness; cerebellar degeneration, which can cause difficulty with coordination and balance; and dermatomyositis, which is an inflammatory condition that affects the skin and muscles.
Paraneoplastic syndromes can occur in association with a variety of different types of cancer, including lung cancer, breast cancer, ovarian cancer, and lymphoma. Treatment typically involves addressing the underlying cancer, as well as managing the symptoms of the paraneoplastic syndrome.
Retrospective studies, also known as retrospective research or looking back studies, are a type of observational study that examines data from the past to draw conclusions about possible causal relationships between risk factors and outcomes. In these studies, researchers analyze existing records, medical charts, or previously collected data to test a hypothesis or answer a specific research question.
Retrospective studies can be useful for generating hypotheses and identifying trends, but they have limitations compared to prospective studies, which follow participants forward in time from exposure to outcome. Retrospective studies are subject to biases such as recall bias, selection bias, and information bias, which can affect the validity of the results. Therefore, retrospective studies should be interpreted with caution and used primarily to generate hypotheses for further testing in prospective studies.
I am not aware of a specific medical definition for "Cuba." Cuba is actually a country, specifically an island nation located in the Caribbean Sea. It is south of Florida and the Bahamas, west of Haiti, and north of Jamaica. The term "Cuba" would not typically be used in a medical context unless it was referring to something or someone that is related to or originates from this country. For example, a "Cuban immigrant" might be mentioned in a medical history, or a patient might have traveled to Cuba for medical treatment. In these cases, the relevant medical information would relate to the individual's personal history or the specific medical care they received, rather than to any inherent qualities of the country itself.
Sweet syndrome, also known as acute febrile neutrophilic dermatosis, is a skin condition characterized by the rapid onset of painful, red, and swollen skin lesions. The lesions are often accompanied by fever and elevated white blood cell count, particularly an increase in neutrophils.
The medical definition of Sweet syndrome includes the following criteria:
1. Abrupt onset of painful, erythematous (red), and edematous (swollen) papules, plaques, or nodules.
2. Fever greater than 38°C (100.4°F).
3. Leukocytosis with a predominance of neutrophils in the peripheral blood.
4. Histopathological evidence of a dense dermal infiltrate of neutrophils without evidence of vasculitis.
5. Rapid response to systemic corticosteroids.
Sweet syndrome can be associated with various medical conditions, such as infections, malignancies, and inflammatory diseases, or it can occur without an identifiable underlying cause (idiopathic).
I'm sorry for any confusion, but "Sri Lanka" is not a medical term or concept. Sri Lanka is an island country located in the Indian Ocean, south of India. It is known for its diverse landscapes ranging from rainforests and arid plains to highlands and sandy beaches.
If you have any questions related to medicine or healthcare, I would be happy to try and help answer them!
I'm sorry for any confusion, but "rain" is not a medical term. In general, rain refers to water droplets that fall from the sky as part of the Earth's weather cycle. These drops form when moisture in the air condenses and cools, creating clouds which eventually become heavy enough to release the collected water.
If you have any medical concerns or questions, I'd be happy to try and help answer those for you!
I must clarify that the term 'pupa' is not typically used in medical contexts. Instead, it is a term from the field of biology, particularly entomology, which is the study of insects.
In insect development, a pupa refers to a stage in the life cycle of certain insects undergoing complete metamorphosis. During this phase, the larval body undergoes significant transformation and reorganization within a protective casing called a chrysalis (in butterflies and moths) or a cocoon (in other insects). The old larval tissues are broken down and replaced with new adult structures. Once this process is complete, the pupal case opens, and the adult insect emerges.
Since 'pupa' is not a medical term, I couldn't provide a medical definition for it. However, I hope this explanation helps clarify its meaning in the context of biology.
Immunoglobulin G (IgG) is a type of antibody, which is a protective protein produced by the immune system in response to foreign substances like bacteria or viruses. IgG is the most abundant type of antibody in human blood, making up about 75-80% of all antibodies. It is found in all body fluids and plays a crucial role in fighting infections caused by bacteria, viruses, and toxins.
IgG has several important functions:
1. Neutralization: IgG can bind to the surface of bacteria or viruses, preventing them from attaching to and infecting human cells.
2. Opsonization: IgG coats the surface of pathogens, making them more recognizable and easier for immune cells like neutrophils and macrophages to phagocytose (engulf and destroy) them.
3. Complement activation: IgG can activate the complement system, a group of proteins that work together to help eliminate pathogens from the body. Activation of the complement system leads to the formation of the membrane attack complex, which creates holes in the cell membranes of bacteria, leading to their lysis (destruction).
4. Antibody-dependent cellular cytotoxicity (ADCC): IgG can bind to immune cells like natural killer (NK) cells and trigger them to release substances that cause target cells (such as virus-infected or cancerous cells) to undergo apoptosis (programmed cell death).
5. Immune complex formation: IgG can form immune complexes with antigens, which can then be removed from the body through various mechanisms, such as phagocytosis by immune cells or excretion in urine.
IgG is a critical component of adaptive immunity and provides long-lasting protection against reinfection with many pathogens. It has four subclasses (IgG1, IgG2, IgG3, and IgG4) that differ in their structure, function, and distribution in the body.
Acquired Immunodeficiency Syndrome (AIDS) is a chronic, life-threatening condition caused by the Human Immunodeficiency Virus (HIV). AIDS is the most advanced stage of HIV infection, characterized by the significant weakening of the immune system, making the person more susceptible to various opportunistic infections and cancers.
The medical definition of AIDS includes specific criteria based on CD4+ T-cell count or the presence of certain opportunistic infections and diseases. According to the Centers for Disease Control and Prevention (CDC), a person with HIV is diagnosed with AIDS when:
1. The CD4+ T-cell count falls below 200 cells per cubic millimeter of blood (mm3) - a normal range is typically between 500 and 1,600 cells/mm3.
2. They develop one or more opportunistic infections or cancers that are indicative of advanced HIV disease, regardless of their CD4+ T-cell count.
Some examples of these opportunistic infections and cancers include:
* Pneumocystis pneumonia (PCP)
* Candidiasis (thrush) affecting the esophagus, trachea, or lungs
* Cryptococcal meningitis
* Toxoplasmosis of the brain
* Cytomegalovirus disease
* Kaposi's sarcoma
* Non-Hodgkin's lymphoma
* Invasive cervical cancer
It is important to note that with appropriate antiretroviral therapy (ART), people living with HIV can maintain their CD4+ T-cell counts, suppress viral replication, and prevent the progression to AIDS. Early diagnosis and consistent treatment are crucial for managing HIV and improving life expectancy and quality of life.
A Severity of Illness Index is a measurement tool used in healthcare to assess the severity of a patient's condition and the risk of mortality or other adverse outcomes. These indices typically take into account various physiological and clinical variables, such as vital signs, laboratory values, and co-morbidities, to generate a score that reflects the patient's overall illness severity.
Examples of Severity of Illness Indices include the Acute Physiology and Chronic Health Evaluation (APACHE) system, the Simplified Acute Physiology Score (SAPS), and the Mortality Probability Model (MPM). These indices are often used in critical care settings to guide clinical decision-making, inform prognosis, and compare outcomes across different patient populations.
It is important to note that while these indices can provide valuable information about a patient's condition, they should not be used as the sole basis for clinical decision-making. Rather, they should be considered in conjunction with other factors, such as the patient's overall clinical presentation, treatment preferences, and goals of care.
Intellectual disability (ID) is a term used when there are significant limitations in both intellectual functioning and adaptive behavior, which covers many everyday social and practical skills. This disability originates before the age of 18.
Intellectual functioning, also known as intelligence, refers to general mental capacity, such as learning, reasoning, problem-solving, and other cognitive skills. Adaptive behavior includes skills needed for day-to-day life, such as communication, self-care, social skills, safety judgement, and basic academic skills.
Intellectual disability is characterized by below-average intelligence or mental ability and a lack of skills necessary for day-to-day living. It can be mild, moderate, severe, or profound, depending on the degree of limitation in intellectual functioning and adaptive behavior.
It's important to note that people with intellectual disabilities have unique strengths and limitations, just like everyone else. With appropriate support and education, they can lead fulfilling lives and contribute to their communities in many ways.
Sensitivity and specificity are statistical measures used to describe the performance of a diagnostic test or screening tool in identifying true positive and true negative results.
* Sensitivity refers to the proportion of people who have a particular condition (true positives) who are correctly identified by the test. It is also known as the "true positive rate" or "recall." A highly sensitive test will identify most or all of the people with the condition, but may also produce more false positives.
* Specificity refers to the proportion of people who do not have a particular condition (true negatives) who are correctly identified by the test. It is also known as the "true negative rate." A highly specific test will identify most or all of the people without the condition, but may also produce more false negatives.
In medical testing, both sensitivity and specificity are important considerations when evaluating a diagnostic test. High sensitivity is desirable for screening tests that aim to identify as many cases of a condition as possible, while high specificity is desirable for confirmatory tests that aim to rule out the condition in people who do not have it.
It's worth noting that sensitivity and specificity are often influenced by factors such as the prevalence of the condition in the population being tested, the threshold used to define a positive result, and the reliability and validity of the test itself. Therefore, it's important to consider these factors when interpreting the results of a diagnostic test.
Vaginal neoplasms refer to abnormal growths or tumors in the vagina. These growths can be benign (non-cancerous) or malignant (cancerous). The two main types of vaginal neoplasms are:
1. Vaginal intraepithelial neoplasia (VAIN): This is a condition where the cells on the inner lining of the vagina become abnormal but have not invaded deeper tissues. VAIN can be low-grade or high-grade, depending on the severity of the cell changes.
2. Vaginal cancer: This is a malignant tumor that arises from the cells in the vagina. The two main types of vaginal cancer are squamous cell carcinoma and adenocarcinoma. Squamous cell carcinoma is the most common type, accounting for about 85% of all cases.
Risk factors for vaginal neoplasms include human papillomavirus (HPV) infection, smoking, older age, history of cervical cancer or precancerous changes, and exposure to diethylstilbestrol (DES) in utero. Treatment options depend on the type, stage, and location of the neoplasm but may include surgery, radiation therapy, chemotherapy, or a combination of these approaches.
Treatment outcome is a term used to describe the result or effect of medical treatment on a patient's health status. It can be measured in various ways, such as through symptoms improvement, disease remission, reduced disability, improved quality of life, or survival rates. The treatment outcome helps healthcare providers evaluate the effectiveness of a particular treatment plan and make informed decisions about future care. It is also used in clinical research to compare the efficacy of different treatments and improve patient care.
Dependent ambulation is a term used in medical context to describe a person's ability to walk or move around, but only with assistance from another person or the use of assistive devices such as crutches, walkers, or wheelchairs. This means that the person is not able to safely and independently navigate their environment on their own due to physical limitations, balance issues, mobility impairments, or other health conditions.
Dependent ambulation can be temporary or permanent, depending on the underlying cause of the impairment. For example, a person who has undergone surgery may require dependent ambulation during the recovery period, while someone with a progressive neurological condition may require long-term assistance with mobility.
Healthcare professionals, such as physical therapists and occupational therapists, often work with individuals who require dependent ambulation to help them improve their strength, balance, and mobility through various exercises and interventions. The goal is to help the person become as independent as possible and reduce their reliance on assistive devices or other people for mobility.
I'm sorry for any confusion, but "Polynesia" is not a medical term. It is a geographical region in the Pacific Ocean, consisting of numerous island countries and territories. If you have any questions related to medical terminology or health, I would be happy to try and help answer those for you.
Churg-Strauss syndrome (CSS), also known as eosinophilic granulomatosis with polyangiitis (EGPA), is a rare autoimmune disorder characterized by inflammation of small- to medium-sized blood vessels (vasculitis) and the presence of eosinophils, a type of white blood cell. The syndrome typically affects multiple organ systems, including the respiratory tract, peripheral nerves, skin, heart, and kidneys.
The classic triad of symptoms includes asthma, allergies, and peripheral blood eosinophilia (high levels of eosinophils in the blood). Other common features include sinusitis, rhinitis, cough, shortness of breath, skin rashes, neuropathy (nerve damage), and cardiac involvement.
The exact cause of Churg-Strauss syndrome is not well understood, but it is believed to involve an abnormal immune response in genetically susceptible individuals. Treatment typically involves the use of immunosuppressive medications to control inflammation and prevent organ damage. Corticosteroids are often used as a first-line therapy, while other agents such as cyclophosphamide or rituximab may be added for more severe cases.
Vero cells are a line of cultured kidney epithelial cells that were isolated from an African green monkey (Cercopithecus aethiops) in the 1960s. They are named after the location where they were initially developed, the Vervet Research Institute in Japan.
Vero cells have the ability to divide indefinitely under certain laboratory conditions and are often used in scientific research, including virology, as a host cell for viruses to replicate. This allows researchers to study the characteristics of various viruses, such as their growth patterns and interactions with host cells. Vero cells are also used in the production of some vaccines, including those for rabies, polio, and Japanese encephalitis.
It is important to note that while Vero cells have been widely used in research and vaccine production, they can still have variations between different cell lines due to factors like passage number or culture conditions. Therefore, it's essential to specify the exact source and condition of Vero cells when reporting experimental results.
Reverse Transcriptase Polymerase Chain Reaction (RT-PCR) is a laboratory technique used in molecular biology to amplify and detect specific DNA sequences. This technique is particularly useful for the detection and quantification of RNA viruses, as well as for the analysis of gene expression.
The process involves two main steps: reverse transcription and polymerase chain reaction (PCR). In the first step, reverse transcriptase enzyme is used to convert RNA into complementary DNA (cDNA) by reading the template provided by the RNA molecule. This cDNA then serves as a template for the PCR amplification step.
In the second step, the PCR reaction uses two primers that flank the target DNA sequence and a thermostable polymerase enzyme to repeatedly copy the targeted cDNA sequence. The reaction mixture is heated and cooled in cycles, allowing the primers to anneal to the template, and the polymerase to extend the new strand. This results in exponential amplification of the target DNA sequence, making it possible to detect even small amounts of RNA or cDNA.
RT-PCR is a sensitive and specific technique that has many applications in medical research and diagnostics, including the detection of viruses such as HIV, hepatitis C virus, and SARS-CoV-2 (the virus that causes COVID-19). It can also be used to study gene expression, identify genetic mutations, and diagnose genetic disorders.
Sturge-Weber syndrome is a rare neurocutaneous disorder characterized by the combination of a facial port-wine birthmark and neurological abnormalities. The facial birthmark, which is typically located on one side of the face, occurs due to the malformation of small blood vessels (capillaries) in the skin and eye.
Neurological features often include seizures that begin in infancy, muscle weakness or paralysis on one side of the body (hemiparesis), developmental delay, and intellectual disability. These neurological symptoms are caused by abnormal blood vessel formation in the brain (leptomeningeal angiomatosis) leading to increased pressure, reduced blood flow, and potential damage to the brain tissue.
Sturge-Weber syndrome can also affect the eyes, with glaucoma being a common occurrence due to increased pressure within the eye. Early diagnosis and appropriate management of this condition are crucial for improving the quality of life and reducing potential complications.
Neutralizing antibodies are a type of antibody that defends against pathogens such as viruses or bacteria by neutralizing their ability to infect cells. They do this by binding to specific regions on the surface proteins of the pathogen, preventing it from attaching to and entering host cells. This renders the pathogen ineffective and helps to prevent or reduce the severity of infection. Neutralizing antibodies can be produced naturally in response to an infection or vaccination, or they can be generated artificially for therapeutic purposes.
Prospective studies, also known as longitudinal studies, are a type of cohort study in which data is collected forward in time, following a group of individuals who share a common characteristic or exposure over a period of time. The researchers clearly define the study population and exposure of interest at the beginning of the study and follow up with the participants to determine the outcomes that develop over time. This type of study design allows for the investigation of causal relationships between exposures and outcomes, as well as the identification of risk factors and the estimation of disease incidence rates. Prospective studies are particularly useful in epidemiology and medical research when studying diseases with long latency periods or rare outcomes.
Budd-Chiari syndrome is a rare condition characterized by the obstruction of the hepatic veins, which are the blood vessels that carry blood from the liver to the heart. This obstruction can be caused by blood clots, tumors, or other abnormalities, and it can lead to a backflow of blood in the liver, resulting in various symptoms such as abdominal pain, swelling, and liver enlargement. In severe cases, Budd-Chiari syndrome can cause liver failure and other complications if left untreated. The diagnosis of this condition typically involves imaging tests such as ultrasound, CT scan, or MRI, and treatment may include anticoagulation therapy, thrombolytic therapy, or surgical intervention to remove the obstruction.
Southeast Asia is a geographical region that consists of the countries that are located at the southeastern part of the Asian continent. The definition of which countries comprise Southeast Asia may vary, but it generally includes the following 11 countries:
* Brunei
* Cambodia
* East Timor (Timor-Leste)
* Indonesia
* Laos
* Malaysia
* Myanmar (Burma)
* Philippines
* Singapore
* Thailand
* Vietnam
Southeast Asia is known for its rich cultural diversity, with influences from Hinduism, Buddhism, Islam, and Christianity. The region is also home to a diverse range of ecosystems, including rainforests, coral reefs, and mountain ranges. In recent years, Southeast Asia has experienced significant economic growth and development, but the region still faces challenges related to poverty, political instability, and environmental degradation.
A wound is a type of injury that occurs when the skin or other tissues are cut, pierced, torn, or otherwise broken. Wounds can be caused by a variety of factors, including accidents, violence, surgery, or certain medical conditions. There are several different types of wounds, including:
* Incisions: These are cuts that are made deliberately, often during surgery. They are usually straight and clean.
* Lacerations: These are tears in the skin or other tissues. They can be irregular and jagged.
* Abrasions: These occur when the top layer of skin is scraped off. They may look like a bruise or a scab.
* Punctures: These are wounds that are caused by sharp objects, such as needles or knives. They are usually small and deep.
* Avulsions: These occur when tissue is forcibly torn away from the body. They can be very serious and require immediate medical attention.
Injuries refer to any harm or damage to the body, including wounds. Injuries can range from minor scrapes and bruises to more severe injuries such as fractures, dislocations, and head trauma. It is important to seek medical attention for any injury that is causing significant pain, swelling, or bleeding, or if there is a suspected bone fracture or head injury.
In general, wounds and injuries should be cleaned and covered with a sterile bandage to prevent infection. Depending on the severity of the wound or injury, additional medical treatment may be necessary. This may include stitches for deep cuts, immobilization for broken bones, or surgery for more serious injuries. It is important to follow your healthcare provider's instructions carefully to ensure proper healing and to prevent complications.
Neutralization tests are a type of laboratory assay used in microbiology and immunology to measure the ability of a substance, such as an antibody or antitoxin, to neutralize the activity of a toxin or infectious agent. In these tests, the substance to be tested is mixed with a known quantity of the toxin or infectious agent, and the mixture is then incubated under controlled conditions. After incubation, the mixture is tested for residual toxicity or infectivity using a variety of methods, such as cell culture assays, animal models, or biochemical assays.
The neutralization titer is then calculated based on the highest dilution of the test substance that completely neutralizes the toxin or infectious agent. Neutralization tests are commonly used in the diagnosis and evaluation of immune responses to vaccines, as well as in the detection and quantification of toxins and other harmful substances.
Examples of neutralization tests include the serum neutralization test for measles antibodies, the plaque reduction neutralization test (PRNT) for dengue virus antibodies, and the cytotoxicity neutralization assay for botulinum neurotoxins.
In the context of medical and biological sciences, a "binding site" refers to a specific location on a protein, molecule, or cell where another molecule can attach or bind. This binding interaction can lead to various functional changes in the original protein or molecule. The other molecule that binds to the binding site is often referred to as a ligand, which can be a small molecule, ion, or even another protein.
The binding between a ligand and its target binding site can be specific and selective, meaning that only certain ligands can bind to particular binding sites with high affinity. This specificity plays a crucial role in various biological processes, such as signal transduction, enzyme catalysis, or drug action.
In the case of drug development, understanding the location and properties of binding sites on target proteins is essential for designing drugs that can selectively bind to these sites and modulate protein function. This knowledge can help create more effective and safer therapeutic options for various diseases.
Chediak-Higashi Syndrome is a rare autosomal recessive disorder characterized by partial albinism, photophobia, bleeding diathesis, recurrent infections, and progressive neurological degeneration. It is caused by mutations in the LYST gene, which leads to abnormalities in lysosomes, melanosomes, and neutrophil granules. The disorder is named after two Mexican hematologists, Dr. Chediak and Dr. Higashi, who first described it in 1952.
The symptoms of Chediak-Higashi Syndrome typically appear in early childhood and include light skin and hair, blue or gray eyes, and a sensitivity to light. Affected individuals may also have bleeding problems due to abnormal platelets, and they are prone to recurrent bacterial infections, particularly of the skin, gums, and respiratory system.
The neurological symptoms of Chediak-Higashi Syndrome can include poor coordination, difficulty walking, and seizures. The disorder can also affect the immune system, leading to an accelerated phase known as the "hemophagocytic syndrome," which is characterized by fever, enlarged liver and spleen, and abnormal blood counts.
There is no cure for Chediak-Higashi Syndrome, and treatment typically focuses on managing the symptoms of the disorder. This may include antibiotics to treat infections, medications to control bleeding, and physical therapy to help with mobility issues. In some cases, bone marrow transplantation may be recommended as a potential cure for the disorder.
I'm sorry for any confusion, but "Indonesia" is not a medical term. It is a country located in Southeast Asia and Oceania, between the Indian and Pacific oceans. It is the world's largest island country, with more than thirteen thousand islands. If you have any questions about medical terms or concepts, I would be happy to help with those!
Consumer Product Safety refers to the measures taken to ensure that products intended for consumer use are free from unreasonable risks of injury or illness. This is typically overseen by regulatory bodies, such as the Consumer Product Safety Commission (CPSC) in the United States, which establishes safety standards, tests products, and recalls dangerous ones.
The definition of 'Consumer Product' can vary but generally refers to any article, or component part thereof, produced or distributed (i) for sale to a consumer for use in or around a permanent or temporary household or residence, a school, in recreation, or otherwise; (ii) for the personal use, consumption or enjoyment of a consumer in or around a permanent or temporary household or residence, a school, in recreation, or otherwise; (iii) for sensory evaluation and direct physical contact by a consumer in or around a permanent or temporary household or residence, a school, in recreation, or otherwise.
The safety measures can include various aspects such as design, manufacturing, packaging, and labeling of the product to ensure that it is safe for its intended use. This includes ensuring that the product does not contain any harmful substances, that it functions as intended, and that it comes with clear instructions for use and any necessary warnings.
It's important to note that even with these safety measures in place, it is still possible for products to cause injury or illness if they are used improperly or if they malfunction. Therefore, it is also important for consumers to be aware of the risks associated with the products they use and to take appropriate precautions.
Viremia is a medical term that refers to the presence of viruses in the bloodstream. It occurs when a virus successfully infects a host and replicates within the body's cells, releasing new viral particles into the blood. This condition can lead to various clinical manifestations depending on the specific virus involved and the immune response of the infected individual. Some viral infections result in asymptomatic viremia, while others can cause severe illness or even life-threatening conditions. The detection of viremia is crucial for diagnosing certain viral infections and monitoring disease progression or treatment effectiveness.
Fever, also known as pyrexia or febrile response, is a common medical sign characterized by an elevation in core body temperature above the normal range of 36.5-37.5°C (97.7-99.5°F) due to a dysregulation of the body's thermoregulatory system. It is often a response to an infection, inflammation, or other underlying medical conditions, and it serves as a part of the immune system's effort to combat the invading pathogens or to repair damaged tissues.
Fevers can be classified based on their magnitude:
* Low-grade fever: 37.5-38°C (99.5-100.4°F)
* Moderate fever: 38-39°C (100.4-102.2°F)
* High-grade or severe fever: above 39°C (102.2°F)
It is important to note that a single elevated temperature reading does not necessarily indicate the presence of a fever, as body temperature can fluctuate throughout the day and can be influenced by various factors such as physical activity, environmental conditions, and the menstrual cycle in females. The diagnosis of fever typically requires the confirmation of an elevated core body temperature on at least two occasions or a consistently high temperature over a period of time.
While fevers are generally considered beneficial in fighting off infections and promoting recovery, extremely high temperatures or prolonged febrile states may necessitate medical intervention to prevent potential complications such as dehydration, seizures, or damage to vital organs.
Animal disease models are specialized animals, typically rodents such as mice or rats, that have been genetically engineered or exposed to certain conditions to develop symptoms and physiological changes similar to those seen in human diseases. These models are used in medical research to study the pathophysiology of diseases, identify potential therapeutic targets, test drug efficacy and safety, and understand disease mechanisms.
The genetic modifications can include knockout or knock-in mutations, transgenic expression of specific genes, or RNA interference techniques. The animals may also be exposed to environmental factors such as chemicals, radiation, or infectious agents to induce the disease state.
Examples of animal disease models include:
1. Mouse models of cancer: Genetically engineered mice that develop various types of tumors, allowing researchers to study cancer initiation, progression, and metastasis.
2. Alzheimer's disease models: Transgenic mice expressing mutant human genes associated with Alzheimer's disease, which exhibit amyloid plaque formation and cognitive decline.
3. Diabetes models: Obese and diabetic mouse strains like the NOD (non-obese diabetic) or db/db mice, used to study the development of type 1 and type 2 diabetes, respectively.
4. Cardiovascular disease models: Atherosclerosis-prone mice, such as ApoE-deficient or LDLR-deficient mice, that develop plaque buildup in their arteries when fed a high-fat diet.
5. Inflammatory bowel disease models: Mice with genetic mutations affecting intestinal barrier function and immune response, such as IL-10 knockout or SAMP1/YitFc mice, which develop colitis.
Animal disease models are essential tools in preclinical research, but it is important to recognize their limitations. Differences between species can affect the translatability of results from animal studies to human patients. Therefore, researchers must carefully consider the choice of model and interpret findings cautiously when applying them to human diseases.
Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
Walter Dandy
Trisomy 18
Neurocutaneous melanosis
Cerebral shunt
List of conditions with craniosynostosis
Dandy-Walker malformation
Bobble-head doll syndrome
3C syndrome
James MacMillan
Kenneth Blackfan
Hydrocephalus
Arthur Earl Walker
Cerebellum
Batman and Robin (comic book)
List of neurological conditions and disorders
Truncal ataxia
Johns Hopkins School of Medicine
List of MeSH codes (C10)
Wendy Davis (politician)
Arachnoid cyst
13q deletion syndrome
Agenesis of the corpus callosum
DWS
List of diseases (D)
PHACE syndrome
Fryns syndrome
List of diseases (F)
List of syndromes
Coarse facial features
Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome - Wikipedia
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Variegated aneuploidy related to premature centromere division (PCD)
Page 4 | Brain - Facty Health
Sutures - separated: MedlinePlus Medical Encyclopedia
Malformation37
- Dandy-Walker malformation affects brain development, primarily development of the cerebellum, which is the part of the brain that coordinates movement. (medlineplus.gov)
- In the majority of individuals with Dandy-Walker malformation, signs and symptoms caused by abnormal brain development are present at birth or develop within the first year of life. (medlineplus.gov)
- Children with Dandy-Walker malformation often have delayed development, particularly a delay in motor skills such as crawling, walking, and coordinating movements. (medlineplus.gov)
- People with Dandy-Walker malformation may experience muscle stiffness and partial paralysis of the lower limbs (spastic paraplegia), and they may also have seizures. (medlineplus.gov)
- Less commonly, other brain abnormalities have been reported in people with Dandy-Walker malformation. (medlineplus.gov)
- In 10 to 20 percent of people with Dandy-Walker malformation, signs and symptoms of the condition do not appear until late childhood or into adulthood. (medlineplus.gov)
- Rarely, people with Dandy-Walker malformation have no health problems related to the condition. (medlineplus.gov)
- Problems related to hydrocephalus or complications of its treatment are the most common cause of death in people with Dandy-Walker malformation. (medlineplus.gov)
- Dandy-Walker malformation is estimated to affect 1 in 10,000 to 30,000 newborns. (medlineplus.gov)
- Researchers have found mutations in a few genes that are thought to cause Dandy-Walker malformation, but these mutations account for only a small number of cases. (medlineplus.gov)
- Dandy-Walker malformation has also been associated with many chromosomal abnormalities. (medlineplus.gov)
- Dandy-Walker malformation can also be a feature of genetic syndromes that are caused by mutations in specific genes. (medlineplus.gov)
- However, the brain malformations associated with Dandy-Walker malformation often occur as an isolated feature (not associated with other health problems), and in these cases the cause is frequently unknown. (medlineplus.gov)
- Research suggests that Dandy-Walker malformation could be caused by environmental factors that affect early development before birth. (medlineplus.gov)
- Dandy-Walker Syndrome is a rare congenital malformation that involves the cerebellum and fourth ventricle. (endingawantedpregnancy.com)
- Dandy-Walker malformation and related variants have a prevalence of 1 in 35,000 live births in the United States. (medscape.com)
- A large number of concomitant problems may be present, but Dandy-Walker malformation is recognized whenever these 3 features are found. (medscape.com)
- Dandy-Walker malformation may be associated with atresia of the foramen of Magendie and, possibly, the foramen of Luschka. (medscape.com)
- See the images of Dandy-Walker malformation below. (medscape.com)
- Classically, posterior fossa cystic malformations have been divided into Dandy-Walker malformation, Dandy-Walker variant, mega cisterna magna, and posterior fossa arachnoid cyst. (medscape.com)
- Dandy-Walker malformation, variant, and mega cisterna magna are currently believed to represent a continuum of developmental anomalies on a spectrum that has been termed the Dandy-Walker complex. (medscape.com)
- Since the vermis is present in posterior fossa arachnoid cyst , this is considered separately from Dandy-Walker malformation. (medscape.com)
- This sagittal T1-weighted MRI shows a large retrocerebellar cerebrospinal fluid collection and a normal fourth ventricle and vermis in a patient with mega cisterna magna in Dandy-Walker malformation. (medscape.com)
- Because there are different surgical therapy approaches for posterior fossa arachnoid cyst and Dandy-Walker malformation, it is essential to differentiate between the 2 entities. (medscape.com)
- The Blake pouch cyst (Blake pouch remnant or persistent Blake pouch) is another posterior fossa embryologic anomaly that must be included in the differential diagnoses of Dandy-Walker malformation. (medscape.com)
- [ 15 ] A retrospective analysis of fetal MRIs with posterior fossa malformations found that Dandy-Walker malformation could be differentiated from Blake pouch cyst by a significantly higher tegmentovermian angle (TVA) at any gestational age. (medscape.com)
- Careful search for the subtle facial changes characteristic of this disorder as well as coloboma, cleft palate/bifid uvula, short neck, syndactyly, and hypoplasia of the nails is warranted when evaluating children with Dandy-Walker malformation with or without clinical signs of Joubert syndrome. (nih.gov)
- Chronic cerebral herniation in shunted Dandy-Walker malformation. (nih.gov)
- Dandy-Walker malformation was first described by Dandy and Blackfan in 1914. (medscape.com)
- Not until 1954 did Benda first emphasize that atresia of the cerebellar outlet foramina is not an essential feature of the condition and suggested the now widely accepted term Dandy-Walker malformation. (medscape.com)
- [7] Although uncommon in the syndrome, trisomy 18 causes a large portion of prenatally diagnosed cases of Dandy-Walker malformation . (wikipedia.org)
- Branchiootorenal (BOR) syndrome is a condition that disrupts the development of tissues in the neck and causes the malformation of ears and kidneys. (nipt-geneplanet.com)
- OBJECTIVE AND IMPORTANCE: Dandy-Walker malformation has conventionally been managed with placement of cystoperitoneal or ventriculoperitoneal shunts. (johnshopkins.edu)
- CLINICAL PRESENTATION: Three children with Dandy-Walker malformation and aqueductal obstruction were managed with endoscopic third ventriculostomy and placement of a stent from the third ventricle to the posterior fossa cyst. (johnshopkins.edu)
- CONCLUSION: Cystoventricular stent placement with endoscopic third ventriculostomy is a promising alternative in patients with Dandy-Walker malformation with aqueductal obstruction. (johnshopkins.edu)
- Extremely rare syndrome combining congenital heart defects with a Dandy-Walker-like malformation and craniofacial malformations. (mhmedical.com)
- November 2010 issue of Human Reproduction revealed an association between clomiphene citrate therapy and the birth defects of anencephaly, Dandy-Walker malformation, septal heart defects, muscular ventricular septal defects, coarctation of the aorta, esophageal atresia, cloacal, exstrophy, craniosynostosis, and omphalocele. (mblynchfirm.com)
Hydrocephalus6
- Features of this condition include: Musculoskeletal system: Dandy-Walker syndrome, sagittal craniosynostosis Nervous system: cerebellar vermis hypoplasia, hydrocephalus, posterior fossa cyst The first four cases (a mother, her two sons, and an unrelated boy) were reported in 1993. (wikipedia.org)
- In 2010, another family of Moroccan-Jewish origin were reported to have the syndrome, and it was noted that the posterior fossa anomalies were most likely responsible for the development of hydrocephalus. (wikipedia.org)
- Congenital hydrocephalus can occur in isolation or may be associated with other conditions such as spina bifida or Dandy Walker syndrome. (uclahealth.org)
- However, experts have found a connection between a rare genetic disorder called L1 syndrome and hydrocephalus. (uclahealth.org)
- Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. (bvsalud.org)
- Other less frequent neurological diagnoses include syringomyelia, nonmalignancy-related hydrocephalus, tumours (including ependymoma, meningioma, astrocytoma, choroid plexus papilloma and pineal germinoma) and malformations such as Dandy-Walker and Arnold-Chiari malformations. (medscape.com)
Encephalocele1
- Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele. (bvsalud.org)
Corpus Callosum1
- This sagittal T1-weighted MRI shows agenesis of the corpus callosum and a hypoplastic inferior vermis in a 13-year-old girl with thoracal scoliosis and Dandy-Walker variant. (medscape.com)
Fourth ventricle1
- Dandy-Walker variant (see the image below) consists of vermian hypoplasia and cystic dilatation of the fourth ventricle, without enlargement of the posterior fossa. (medscape.com)
Abnormalities3
- This results in abnormalities such as trisomies (Down, Edwards, and Patau syndrome) or abnormalities in the sex chromosomes (including Klinefelter, Turner, Jacobs, and Triple X syndrome). (nipt-geneplanet.com)
- Review of the cardiac phenotype in patients with Ellis-van Creveld syndrome reveals a characteristic pattern of atrioventricular canal defects with systemic and pulmonary venous abnormalities. (medscape.com)
- The frequent association of these abnormalities is strongly reminiscent of the cardiac phenotype found in patients with heterotaxy syndromes. (medscape.com)
Phenotype3
- Affected individuals are best described as having either a phenotype consistent with either severe (Hurler syndrome) or attenuated MPS I, a distinction that influences therapeutic options. (nih.gov)
- RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. (cdc.gov)
- Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. (cdc.gov)
Anomaly2
- Children's Hospital of The King's Daughters (CHKD) in Norfolk, Virginia operates a Coffin-Siris Syndrome Program that is designed to evaluate, recommend treatment, and manage patients that have one of the rarest multiple-congenital anomaly syndromes. (coffinsiris.org)
- Brachycephaly, deafness, cataract, microstomia and mental retardation syndrome complicated by Pierre-Robin anomaly and polyhydramnios. (bvsalud.org)
Phenotypes1
- The variability of SMARCA4 ‐related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes? (coffinsiris.org)
Variant2
- If it wasn't bad enough being told how life threatening Anneliese's condition is whilst being a full time care'er for her disabled daughter Alethea who was been diagnosed with Dandy walker variant syndrome not long after birth ( a syndrome with the only known cause that is exposure to toxic waste), she has also been given 6 months notice to leave her house. (gofundme.com)
- Then he read a story about Ashlyn Poss, a teenager needing a kidney transplant for a rare genetic condition called Joubert Syndrome with a Dandy Walker Variant. (forsythnews.com)
Deletion3
- The NIFTY test technology, however, scans all chromosomes and can detect 60 deletion and duplication syndromes. (nipt-geneplanet.com)
- Chromosome 13q33-q34 deletion syndrome is associated with developmental delay and/or impaired intellectual development, facial dysmorphism, and an increased risk for epilepsy, cardiac defects and additional anatomic anomalies (summary by Sagi-Dain et al. (nih.gov)
- The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. (cdc.gov)
Cataract1
- Microphthalmia and cataract in a newborn with Walker-Warburg syndrome. (medlink.com)
Joubert7
- In our review of patients with vermis hypoplasia we ascertained a patient diagnosed as having "Joubert syndrome" who had most findings of the Ritscher-Schinzel syndrome and several other patients with "Dandy-Walker syndrome" who likely have had Ritscher-Schinzel syndrome, suggesting that Ritscher-Schinzel syndrome is more common than has been appreciated. (nih.gov)
- High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations. (cdc.gov)
- Association of common variants in the Joubert syndrome gene (AHI1) with autism. (cdc.gov)
- KIAA0586 is Mutated in Joubert Syndrome. (cdc.gov)
- Joubert syndrome: genotyping a Northern European patient cohort. (cdc.gov)
- Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity. (cdc.gov)
- Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center. (cdc.gov)
Chromosome2
- Trisomy 18 , also known as Edwards syndrome , is a genetic disorder caused by the presence of a third copy of all or part of chromosome 18 . (wikipedia.org)
- [2] It is the second-most common condition due to a third chromosome at birth, after Down syndrome . (wikipedia.org)
Cerebellar vermis hypoplasia1
- Ritscher-Schinzel syndrome or 3C (craniocerebello-cardiac) syndrome is characterized by cardiac defects, cerebellar vermis hypoplasia, and cranial defects. (nih.gov)
Symptoms1
- The signs and symptoms of this syndrome are present from birth or become apparent in early childhood. (nipt-geneplanet.com)
Clinical3
- Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. (nipt-geneplanet.com)
- While affected individuals have traditionally been classified as having one of three MPS I syndromes (Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome), no easily measurable biochemical differences have been identified and the clinical findings overlap. (nih.gov)
- A clinical tetrad of Ellis-van Creveld syndrome consists of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac anomalies. (medscape.com)
Affects3
- Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. (nipt-geneplanet.com)
- Angelman syndrome affects the nervous system. (nipt-geneplanet.com)
- Oral-facial-digital syndrome type I (OFD1) is usually male lethal during gestation and predominantly affects females. (nih.gov)
Autosomal recessive1
- Disproportionate dwarfism, postaxial polydactyly, ectodermal dysplasia, a small chest, and a high frequency of congenital heart defects characterize this autosomal recessive syndrome, which has increased incidence among persons of Old Order Amish descent. (medscape.com)
Occurs1
- Researchers estimate that L1 syndrome occurs in one in 25,000 to 60,000 males and rarely occurs in females. (uclahealth.org)
Congenital malformations2
Fetuses2
- Histopathologic examination of fetuses with Ellis-van Creveld syndrome revealed that the cartilage of long bones showed chondrocyte disorganization in the physeal growth zone. (medscape.com)
- In the prenatal period, intrauterine growth retardation, skeletal malformations, and cardiac defects can be depicted on ultrasound images in fetuses with Ellis-van Creveld (EVC) syndrome. (medscape.com)
Disease1
- Currently, I am enrolling patients who have Gaucher disease, Hunter syndrome, Fabry disease, and Pompe disease in registries. (nyulangone.org)
Brain1
- After all, it doesn't matter to me whether my baby's brain is completely normal, it matters to me whether she'll be healthy, functional, capable of experiencing the whole range of human emotions… By Kate C. Originally titled "Dandy Walker. (endingawantedpregnancy.com)
Associated with Dandy-Walker malfo1
- However, the brain malformations associated with Dandy-Walker malformation often occur as an isolated feature (not associated with other health problems), and in these cases the cause is frequently unknown. (medlineplus.gov)
Malformation syndromes2
- Dandy-Walker syndrome (DWS) is a brain malformation of unknown etiology, but several reports have been published indicating that there is a causal relationship to various types of chromosomal abnormalities and malformation syndromes. (nih.gov)
- We also summarize some other chromosomal abnormalities and various congenital malformation syndromes. (nih.gov)
Cyst7
- Features of this condition include: Musculoskeletal system: Dandy-Walker syndrome, sagittal craniosynostosis Nervous system: cerebellar vermis hypoplasia, hydrocephalus, posterior fossa cyst The first four cases (a mother, her two sons, and an unrelated boy) were reported in 1993. (wikipedia.org)
- Classically, posterior fossa cystic malformations have been divided into Dandy-Walker malformation, Dandy-Walker variant, mega cisterna magna, and posterior fossa arachnoid cyst. (medscape.com)
- Since the vermis is present in posterior fossa arachnoid cyst , this is considered separately from Dandy-Walker malformation. (medscape.com)
- Because there are different surgical therapy approaches for posterior fossa arachnoid cyst and Dandy-Walker malformation, it is essential to differentiate between the 2 entities. (medscape.com)
- The Blake pouch cyst (Blake pouch remnant or persistent Blake pouch) is another posterior fossa embryologic anomaly that must be included in the differential diagnoses of Dandy-Walker malformation. (medscape.com)
- [ 15 ] A retrospective analysis of fetal MRIs with posterior fossa malformations found that Dandy-Walker malformation could be differentiated from Blake pouch cyst by a significantly higher tegmentovermian angle (TVA) at any gestational age. (medscape.com)
- Results Out of 41 cases, there were 30 (73.14%) cases of hydrocephalus, 4 (9.76%) Dandy-Walker malformation, 2 (4.88%) subdural collection, 2 (4.88%) arachnoid cyst, 1 (2.44%) craniosynostosis, and 2 (4.88%) with tubercular meningitis. (thieme-connect.com)
20231
- Medically reviewed by Erica Irish, DVM on April 27, 2023 Sundowners syndrome in dogs is the result of canine cognitive dysfunction syndrome (CDS), or canine dementia. (hugspetproducts.com)
Encephalocele2
- 17. Dandy-Walker syndrome together with occipital encephalocele. (nih.gov)
- Posterior encephalocele, post-axial polydactyly, and Dandy-Walker malformation were observed on ultrasonographic (USG) examination at 22 weeks\' gestation, and lobar holoprosencephaly was demonstrated on postmortem magnetic resonance imaging (MRI) prior to autopsy. (turkishjournalpediatrics.org)
Heterogeneous group2
- The hepatorenal fibrocystic (HRFC) syndromes are a heterogeneous group of severe monogenic conditions that may be detected before birth. (bmj.com)
- Facial pain syndromes are a heterogeneous group of conditions characterized by pain in craniofacial district. (jneuro.org)
Occipital1
- Typical facial pain syndromes include trigeminal neuralgia, glossopharyngeal neuralgia, occipital nerve neuralgia, cluster headache and other forms. (jneuro.org)
Malformations3
- Dandy-Walker malformation diagnosed before 21 weeks of gestation: associated malformations and chromosomal abnormalities. (nih.gov)
- The Zika virus outbreak in Latin America resulted in congenital malformations, called congenital Zika syndrome (CZS). (cdc.gov)
- The 2015-2016 Zika epidemic in Brazil was associated with congenital malformations summarized as congenital Zika syndrome (CZS) ( 1 - 6 ). (cdc.gov)
Chromosomal abnormalities1
- Dandy-Walker malformation has also been associated with many chromosomal abnormalities. (medlineplus.gov)
Genetic5
- Clinical features and genetic analysis of Dandy-Walker syndrome. (nih.gov)
- Dandy-Walker malformation can also be a feature of genetic syndromes that are caused by mutations in specific genes. (medlineplus.gov)
- Clinical syndromes, genetic patterns, and differential diagnosis from other causes of megalocephaly. (thieme-connect.com)
- KID syndrome is caused by genetic changes in the GJB2 gene. (nih.gov)
- 2011). For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300. (beds.ac.uk)
Anomalies3
- In 2010, another family of Moroccan-Jewish origin were reported to have the syndrome, and it was noted that the posterior fossa anomalies were most likely responsible for the development of hydrocephalus. (wikipedia.org)
- Dandy-Walker malformation, variant, and mega cisterna magna are currently believed to represent a continuum of developmental anomalies on a spectrum that has been termed the Dandy-Walker complex. (medscape.com)
- The Dandy-Walker malformation (DWM) is one of the commonest congenital cerebellar defects, and can be associated with multiple congenital anomalies and chromosomal syndromes. (unicatt.it)
Hydrocephalus due2
- Significance of upward gaze palsy (Parinaud's syndrome) in hydrocephalus due to shunt malfunction. (thieme-connect.com)
- I'm seventeen and I was born with hydrocephalus due to Dandy Walker Syndrome. (hydroassoc.org)
Cerebellar2
- Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). (beds.ac.uk)
- Joubert syndrome-14 (JBTS14) is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. (beds.ac.uk)
Sagittal1
- This sagittal T1-weighted MRI shows agenesis of the corpus callosum and a hypoplastic inferior vermis in a 13-year-old girl with thoracal scoliosis and Dandy-Walker variant. (medscape.com)
19961
- ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). (nih.gov)
Complex1
- Interestingly, both the two-year-old affected sister and 23-week-old male fetus had Dandy-Walker complex. (turkishjournalpediatrics.org)
Cerebellum2
- Dandy-Walker syndrome is a neurological disorder caused by an unusual formation between the cerebellum and the fluid-filled spaces around it. (nih.gov)
- Dandy-Walker malformation affects brain development, primarily development of the cerebellum, which is the part of the brain that coordinates movement. (medlineplus.gov)
Differential1
- In this review, we examine the clinical features and differential diagnoses of this group of syndromes, including autosomal recessive polycystic kidney disease (ARPKD), juvenile nephronophthisis (NPHP), Meckel-Gruber syndrome (MKS), Bardet-Biedl syndrome (BBS), and Jeune asphyxiating thoracic dystrophy (JATD). (bmj.com)
Symptoms4
- Dandy-Walker syndrome can cause unusual development of the head, heart, face, arms, or legs-although some children may never have symptoms. (nih.gov)
- In the majority of individuals with Dandy-Walker malformation, signs and symptoms caused by abnormal brain development are present at birth or develop within the first year of life. (medlineplus.gov)
- In 10 to 20 percent of people with Dandy-Walker malformation, signs and symptoms of the condition do not appear until late childhood or into adulthood. (medlineplus.gov)
- When Do Symptoms of KID syndrome Begin? (nih.gov)
Prognosis2
- The prognosis and life-expectancy of Dandy-Walker Syndrome patients depends largely on how severely they're affected by the syndrome, and which associated medical conditions they have. (endingawantedpregnancy.com)
- Cystic lesions also affect the kidneys and their severity determines the clinical presentation and long term prognosis for many HRFC syndromes. (bmj.com)
Fetus2
- Prenatal diagnosis of supernumerary der(22)t(11;22) associated with the Dandy-Walker malformation in a fetus. (nih.gov)
- We report a 23-week-old male fetus affected by Meckel-Gruber syndrome. (turkishjournalpediatrics.org)
Foramen1
- Dandy-Walker malformation may be associated with atresia of the foramen of Magendie and, possibly, the foramen of Luschka. (medscape.com)
Severe2
- The congenital hepatorenal fibrocystic syndromes are a group of severe, mostly autosomal recessive, monogenic disorders that are characterised by a common pathological appearance, with the presentation of multiple defects in the liver and kidney as the most predominant feature. (bmj.com)
- 15- Ahmet Zeki Işık, Semra Kahraman, Kubilay Vicdan, Levent Alaybeyoğlu, Osman D.Özgün, Gurur Polat, Kutay Biberoğlu : Intravenous albumin combined with low dose human chorionic gonadotropin and late step-down administration of menotropins are found to be effective in prevention of severe ovarian hyperstimulation syndrome in a relatively large group of high risk patients in an in vitro fertilization program. (tupbebekuzmani.com)
TTTS1
- Identical twins who share one placenta may be at risk for Twin-to-Twin Transfusion Syndrome (TTTS). (nationwidechildrens.org)
Developmental2
- Previously, it has been suggested that ARPKD, JATD, and Ellis-van Creveld syndrome (EvC) may arise from defects in differentiation in a common developmental pathway. (bmj.com)
- My son Aaron was diagnosed with Dandy-Walker malformation, CHARGE syndrome and global developmental delays. (spacecoastliving.com)
Movements2
- Children with Dandy-Walker malformation often have delayed development, particularly a delay in motor skills such as crawling, walking, and coordinating movements. (medlineplus.gov)
- Klippel-Feil syndrome (KFS) is a congenital malformation causing fusion of at least two cervical vertebrae and characterized clinically by presence of triad of short neck, limited neck movements, and low poste. (springeropen.com)
Systemic1
- Also these facial pain syndromes may be secondary to systemic diseases or lesions in central nervous system. (jneuro.org)
Clinical features1
- Knowledge of the clinical features of these facial pain syndromes in children allows physicians to establish the correct diagnosis and develop the optimal treatment plan. (jneuro.org)
Partial1
- People with Dandy-Walker malformation may experience muscle stiffness and partial paralysis of the lower limbs (spastic paraplegia), and they may also have seizures. (medlineplus.gov)
Diagnosis1
- Medscape.com lists 41 other serious medical conditions commonly associated with a diagnosis of Dandy-Walker Syndrome. (endingawantedpregnancy.com)
Disorders1
- Consider participating in a clinical trial so clinicians and scientists can learn more about Dandy-Walker syndrome and related disorders. (nih.gov)
Polycystic1
- Comparison of four different regimes in hirsutismus related to polycystic ovary syndrome. (tupbebekuzmani.com)
Surgical1
- 11 Marinov M, Gabrovsky S, Undjian S. The Dandy-Walker syndrome: diagnostic and surgical considerations. (thieme-connect.com)
Problems may be present1
- A large number of concomitant problems may be present, but Dandy-Walker malformation is recognized whenever these 3 features are found. (medscape.com)