Endoscopic examination, therapy or surgery of the luminal surface of the duodenum.
A chronic transmural inflammation that may involve any part of the DIGESTIVE TRACT from MOUTH to ANUS, mostly found in the ILEUM, the CECUM, and the COLON. In Crohn disease, the inflammation, extending through the intestinal wall from the MUCOSA to the serosa, is characteristically asymmetric and segmental. Epithelioid GRANULOMAS may be seen in some patients.
Systemic-onset rheumatoid arthritis in adults. It differs from classical rheumatoid arthritis in that it is more often marked by acute febrile onset, and generalized lymphadenopathy and hepatosplenomegaly are more prominent.
The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.
A condition characterized by focal DYSTONIA that progresses to involuntary spasmodic contractions of the muscles of the legs, trunk, arms, and face. The hands are often spared, however, sustained axial and limb contractions may lead to a state where the body is grossly contorted. Onset is usually in the first or second decade. Familial patterns of inheritance, primarily autosomal dominant with incomplete penetrance, have been identified. (Adams et al., Principles of Neurology, 6th ed, p1078)
An attitude or posture due to the co-contraction of agonists and antagonist muscles in one region of the body. It most often affects the large axial muscles of the trunk and limb girdles. Conditions which feature persistent or recurrent episodes of dystonia as a primary manifestation of disease are referred to as DYSTONIC DISORDERS. (Adams et al., Principles of Neurology, 6th ed, p77)
A variant of cutaneous mastocytosis which occurs as a single lesion usually in infants. It is found mostly in the wrist and trunk and there is no atypical cytomorphology.
A genus of the family PARAMYXOVIRIDAE (subfamily PARAMYXOVIRINAE) where the virions of most members have hemagglutinin but not neuraminidase activity. All members produce both cytoplasmic and intranuclear inclusion bodies. MEASLES VIRUS is the type species.
A generalized seizure disorder characterized by recurrent major motor seizures. The initial brief tonic phase is marked by trunk flexion followed by diffuse extension of the trunk and extremities. The clonic phase features rhythmic flexor contractions of the trunk and limbs, pupillary dilation, elevations of blood pressure and pulse, urinary incontinence, and tongue biting. This is followed by a profound state of depressed consciousness (post-ictal state) which gradually improves over minutes to hours. The disorder may be cryptogenic, familial, or symptomatic (caused by an identified disease process). (From Adams et al., Principles of Neurology, 6th ed, p329)
A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.).
A sustained and usually painful contraction of muscle fibers. This may occur as an isolated phenomenon or as a manifestation of an underlying disease process (e.g., UREMIA; HYPOTHYROIDISM; MOTOR NEURON DISEASE; etc.). (From Adams et al., Principles of Neurology, 6th ed, p1398)
A specific HLA-B surface antigen subtype. Members of this subtype contain alpha chains that are encoded by the HLA-B*39 allele family.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
A symptom, not a disease, of a twisted neck. In most instances, the head is tipped toward one side and the chin rotated toward the other. The involuntary muscle contractions in the neck region of patients with torticollis can be due to congenital defects, trauma, inflammation, tumors, and neurological or other factors.
A mammalian beta-hexosaminidase isoform that is a heteromeric protein comprized of both hexosaminidase alpha and hexosaminidase beta subunits. Deficiency of hexosaminidase A due to mutations in the gene encoding the hexosaminidase alpha subunit is a case of TAY-SACHS DISEASE. Deficiency of hexosaminidase A and HEXOSAMINIDASE B due to mutations in the gene encoding the hexosaminidase beta subunit is a case of SANDHOFF DISEASE.
Recurrent conditions characterized by epileptic seizures which arise diffusely and simultaneously from both hemispheres of the brain. Classification is generally based upon motor manifestations of the seizure (e.g., convulsive, nonconvulsive, akinetic, atonic, etc.) or etiology (e.g., idiopathic, cryptogenic, and symptomatic). (From Mayo Clin Proc, 1996 Apr;71(4):405-14)
Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2.
A rare autosomal recessive degenerative disorder which usually presents in late childhood or adolescence. Clinical manifestations include progressive MUSCLE SPASTICITY; hyperreflexia; MUSCLE RIGIDITY; DYSTONIA; DYSARTHRIA; and intellectual deterioration which progresses to severe dementia over several years. (From Adams et al., Principles of Neurology, 6th ed, p972; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp972-929)
Arthritis of children, with onset before 16 years of age. The terms juvenile rheumatoid arthritis (JRA) and juvenile idiopathic arthritis (JIA) refer to classification systems for chronic arthritis in children. Only one subtype of juvenile arthritis (polyarticular-onset, rheumatoid factor-positive) clinically resembles adult rheumatoid arthritis and is considered its childhood equivalent.
A characteristic symptom complex.
A profound state of unconsciousness associated with depressed cerebral activity from which the individual cannot be aroused. Coma generally occurs when there is dysfunction or injury involving both cerebral hemispheres or the brain stem RETICULAR FORMATION.
Five-membered heterocyclic ring structures containing an oxygen in the 1-position and a nitrogen in the 3-position, in distinction from ISOXAZOLES where they are at the 1,2 positions.
A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE.
Inflammation of a muscle or muscle tissue.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.
A genetic process by which the adult organism is realized via mechanisms that lead to the restriction in the possible fates of cells, eventually leading to their differentiated state. Mechanisms involved cause heritable changes to cells without changes to DNA sequence such as DNA METHYLATION; HISTONE modification; DNA REPLICATION TIMING; NUCLEOSOME positioning; and heterochromatization which result in selective gene expression or repression.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Genes that influence the PHENOTYPE only in the homozygous state.
Age as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or the effect of a circumstance. It is used with human or animal concepts but should be differentiated from AGING, a physiological process, and TIME FACTORS which refers only to the passage of time.
A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4)
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
Recording of electric currents developed in the brain by means of electrodes applied to the scalp, to the surface of the brain, or placed within the substance of the brain.
Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.
The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.
Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.
The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.
Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder.
Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.
Tomography using x-ray transmission and a computer algorithm to reconstruct the image.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.

Duodenoscopy is a medical procedure that involves the insertion of a duodenoscope, which is a flexible, lighted tube with a camera and tiny tools on the end, through the mouth and down the throat to examine the upper part of the small intestine (duodenum) and the opening of the bile and pancreatic ducts.

During the procedure, the doctor can take tissue samples for biopsy, remove polyps or other abnormal growths, or perform other interventions as needed. Duodenoscopy is commonly used to diagnose and treat conditions such as gastrointestinal bleeding, inflammation, infection, and cancer.

It's important to note that duodenoscopes have been associated with the spread of antibiotic-resistant bacteria in some cases, so healthcare providers must follow strict cleaning and disinfection protocols to minimize this risk.

Crohn's disease is a type of inflammatory bowel disease (IBD) that can affect any part of the gastrointestinal tract, from the mouth to the anus. It is characterized by chronic inflammation of the digestive tract, which can lead to symptoms such as abdominal pain, diarrhea, fatigue, weight loss, and malnutrition.

The specific causes of Crohn's disease are not fully understood, but it is believed to be related to a combination of genetic, environmental, and immune system factors. The disease can affect people of any age, but it is most commonly diagnosed in young adults between the ages of 15 and 35.

There is no cure for Crohn's disease, but treatments such as medications, lifestyle changes, and surgery can help manage symptoms and prevent complications. Treatment options depend on the severity and location of the disease, as well as the individual patient's needs and preferences.

Adult-onset Still's disease (AOSD) is a rare inflammatory disorder characterized by the triad of fever, evanescent rash, and arthralgia or arthritis. It is a type of Still's disease that occurs in adults, typically between the ages of 16 and 35, but it can occur at any age.

The exact cause of AOSD is not known, but it is thought to be an autoimmune disorder, in which the body's immune system mistakenly attacks healthy tissue. The symptoms of AOSD can vary from person to person, but they often include:

* High spiking fever (often 102°F or higher) that may come and go for several weeks or months
* Salmon-pink, non-itchy rash that typically appears on the trunk and extremities and fades after a day or two
* Joint pain and swelling that can affect any joint, but is often worse in the morning and improves with activity
* Sore throat and other respiratory symptoms
* Fatigue and muscle weakness
* Swollen lymph nodes
* Liver enlargement and abnormal liver function tests
* Abnormal white blood cell count

The diagnosis of AOSD is based on a combination of clinical, laboratory and imaging findings. There are no specific diagnostic tests for AOSD, so the diagnosis is often one of exclusion, meaning that other possible causes of the symptoms must be ruled out before a diagnosis of AOSD can be made.

Treatment of AOSD typically involves the use of medications to reduce inflammation and suppress the immune system. These may include nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids, and disease-modifying antirheumatic drugs (DMARDs) such as methotrexate or biologics like TNF inhibitors.

It is important to note that AOSD is a rare condition and its symptoms can vary from person to person, so it's essential to consult with a healthcare professional for an accurate diagnosis and treatment plan.

The "age of onset" is a medical term that refers to the age at which an individual first develops or displays symptoms of a particular disease, disorder, or condition. It can be used to describe various medical conditions, including both physical and mental health disorders. The age of onset can have implications for prognosis, treatment approaches, and potential causes of the condition. In some cases, early onset may indicate a more severe or progressive course of the disease, while late-onset symptoms might be associated with different underlying factors or etiologies. It is essential to provide accurate and precise information regarding the age of onset when discussing a patient's medical history and treatment plan.

'Dystonia Musculorum Deformans' is a medical term that refers to a rare inherited neurological disorder, which is now more commonly known as "Generalized Dystonia." This condition is characterized by sustained muscle contractions, leading to twisting and repetitive movements or abnormal postures.

The onset of symptoms typically occurs during childhood or adolescence, and they can progress over time, affecting various parts of the body. The exact cause of Generalized Dystonia is not fully understood, but it is believed to involve genetic mutations that affect the functioning of certain proteins in the brain. Treatment options may include medications, botulinum toxin injections, or even deep brain stimulation surgery in severe cases.

Dystonia is a neurological movement disorder characterized by involuntary muscle contractions, leading to repetitive or twisting movements. These movements can be painful and may affect one part of the body (focal dystonia) or multiple parts (generalized dystonia). The exact cause of dystonia varies, with some cases being inherited and others resulting from damage to the brain. Treatment options include medications, botulinum toxin injections, and deep brain stimulation surgery.

A mastocytoma is a type of tumor that arises from the abnormal growth and accumulation of mast cells. Mast cells are a type of immune cell that are normally found in various tissues throughout the body, including the skin. They play an important role in the body's immune response, particularly in allergic reactions and inflammation.

A mastocytoma that occurs in the skin is called a cutaneous mastocytoma. This type of tumor typically develops during infancy or early childhood, although it can also occur in adults. Cutaneous mastocytomas usually appear as reddish-brown or yellowish bumps on the skin that are often mistaken for insect bites or other types of skin lesions.

Cutaneous mastocytomas are usually benign, meaning that they do not spread to other parts of the body. However, in some cases, they can cause symptoms such as itching, flushing, and anaphylaxis (a severe and potentially life-threatening allergic reaction) due to the release of histamine and other chemicals from the mast cells.

Treatment for cutaneous mastocytomas typically involves monitoring the tumor for any signs of growth or symptoms, as well as avoiding triggers that may cause mast cell degranulation and symptom flares. In some cases, medication such as antihistamines or corticosteroids may be prescribed to help manage symptoms. Surgical removal of the tumor may also be recommended in certain situations.

Morbillivirus is a genus of viruses in the family Paramyxoviridae, order Mononegavirales. It includes several important human and animal pathogens that cause diseases with significant morbidity and mortality. The most well-known member of this genus is Measles virus (MV), which causes measles in humans, a highly contagious disease characterized by fever, rash, cough, and conjunctivitis.

Other important Morbilliviruses include:

* Rinderpest virus (RPV): This virus caused rinderpest, a severe disease in cattle and other cloven-hoofed animals, which was eradicated in 2011 through a global vaccination campaign.
* Canine Distemper Virus (CDV): A pathogen that affects dogs, wild canids, and several other mammalian species, causing a systemic disease with respiratory, gastrointestinal, and neurological symptoms.
* Phocine Distemper Virus (PDV) and Porpoise Morbillivirus (PMV): These viruses affect marine mammals, such as seals and porpoises, causing mass mortality events in their populations.

Morbilliviruses are enveloped, negative-sense, single-stranded RNA viruses with a genome size of approximately 15-16 kilobases. They have a pleomorphic shape and can vary in diameter from 150 to 750 nanometers. The viral envelope contains two glycoproteins: the hemagglutinin (H) protein, which mediates attachment to host cells, and the fusion (F) protein, which facilitates membrane fusion and viral entry.

Transmission of Morbilliviruses typically occurs through respiratory droplets or direct contact with infected individuals or animals. The viruses can cause acute infections with high fatality rates, particularly in naïve populations that lack immunity due to insufficient vaccination coverage or the absence of previous exposure.

In summary, Morbillivirus is a genus of viruses in the family Paramyxoviridae that includes several important human and animal pathogens causing acute respiratory infections with high fatality rates. Transmission occurs through respiratory droplets or direct contact, and vaccination plays a crucial role in preventing outbreaks and controlling disease spread.

Tonic-clonic epilepsy, also known as grand mal epilepsy, is a type of generalized seizure that affects the entire brain. This type of epilepsy is characterized by two distinct phases: the tonic phase and the clonic phase.

During the tonic phase, which usually lasts for about 10-20 seconds, the person loses consciousness and their muscles stiffen, causing them to fall to the ground. This can result in injuries if the person falls unexpectedly or hits an object on the way down.

The clonic phase follows immediately after the tonic phase and is characterized by rhythmic jerking movements of the limbs, face, and neck. These movements are caused by alternating contractions and relaxations of the muscles and can last for several minutes. The person may also lose bladder or bowel control during this phase.

After the seizure, the person may feel tired, confused, and disoriented. They may also have a headache, sore muscles, and difficulty remembering what happened during the seizure.

Tonic-clonic epilepsy can be caused by a variety of factors, including genetics, brain injury, infection, or stroke. It is typically diagnosed through a combination of medical history, physical examination, and diagnostic tests such as an electroencephalogram (EEG) or imaging studies. Treatment may include medication, surgery, or dietary changes, depending on the underlying cause and severity of the seizures.

Myoclonic epilepsies are a group of epilepsy syndromes characterized by the presence of myoclonic seizures. A myoclonic seizure is a type of seizure that involves quick, involuntary muscle jerks or twitches. These seizures can affect one part of the body or multiple parts simultaneously and may vary in frequency and severity.

Myoclonic epilepsies can occur at any age but are more common in infancy, childhood, or adolescence. Some myoclonic epilepsy syndromes have a genetic basis, while others may be associated with brain injury, infection, or other medical conditions.

Some examples of myoclonic epilepsy syndromes include:

1. Juvenile Myoclonic Epilepsy (JME): This is the most common type of myoclonic epilepsy and typically begins in adolescence. It is characterized by myoclonic jerks, often occurring upon awakening or after a period of relaxation, as well as generalized tonic-clonic seizures.
2. Progressive Myoclonic Epilepsies (PME): These are rare inherited disorders that typically begin in childhood or adolescence and involve both myoclonic seizures and other types of seizures. PMEs often progress to include cognitive decline, movement disorders, and other neurological symptoms.
3. Lennox-Gastaut Syndrome (LGS): This is a severe form of epilepsy that typically begins in early childhood and involves multiple types of seizures, including myoclonic seizures. LGS can be difficult to treat and often results in cognitive impairment and developmental delays.
4. Myoclonic Astatic Epilepsy (MAE): Also known as Doose syndrome, MAE is a childhood epilepsy syndrome characterized by myoclonic seizures, atonic seizures (brief periods of muscle weakness or loss of tone), and other types of seizures. It often responds well to treatment with antiepileptic drugs.

The management of myoclonic epilepsies typically involves a combination of medication, lifestyle changes, and, in some cases, dietary modifications. The specific treatment plan will depend on the type of myoclonic epilepsy and its underlying cause.

A muscle cramp is an involuntary and forcibly contracted muscle that does not relax. It can involve partial or complete muscle groups, often occurring in the legs and feet (hamstrings, quadriceps, calves, and foot intrinsic muscles) during or after exercise, at night, or while resting. The exact cause of muscle cramps is unclear, but they can be associated with muscle fatigue, heavy exercising, dehydration, electrolyte imbalances, or underlying medical conditions (e.g., nerve compression or disorders, hormonal imbalances). The primary symptom is a sudden, sharp pain in the affected muscle, which may be visibly tightened and hard to touch. Most muscle cramps resolve on their own within a few minutes, but gentle stretching, massage, or applying heat/cold can help alleviate discomfort.

HLA-B39 is a subtype of the human leukocyte antigen (HLA) B locus, which is part of the major histocompatibility complex (MHC) class I molecules found on the surface of most nucleated cells in the body. The HLA system plays a critical role in the immune system by presenting pieces of proteins from inside the cell to T-cells, helping the immune system distinguish between "self" and "non-self."

HLA-B39 antigen is a specific protein found on the surface of some individuals' cells. It is one of many HLA-B types, which are determined by variations in the HLA-B gene. The HLA-B39 antigen is associated with certain diseases and responses to drugs, but its role in disease susceptibility or resistance is not fully understood.

It is important to note that the presence or absence of a particular HLA type does not guarantee a specific outcome, as other genetic and environmental factors also play a significant role in determining an individual's susceptibility to diseases or responses to treatments.

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.

Torticollis, also known as wry neck, is a condition where the neck muscles contract and cause the head to turn to one side. There are different types of torticollis including congenital (present at birth), acquired (develops after birth), and spasmodic (neurological).

Congenital torticollis can be caused by a tight or shortened sternocleidomastoid muscle in the neck, which can occur due to positioning in the womb or abnormal blood vessels in the muscle. Acquired torticollis can result from injury, infection, or tumors in the neck. Spasmodic torticollis is a neurological disorder that causes involuntary contractions of the neck muscles and can be caused by a variety of factors including genetics, environmental toxins, or head trauma.

Symptoms of torticollis may include difficulty turning the head, tilting the chin upwards or downwards, pain or discomfort in the neck, and a limited range of motion. Treatment for torticollis depends on the underlying cause and can include physical therapy, stretching exercises, medication, or surgery.

Hexosaminidase A is an enzyme that is responsible for breaking down certain complex molecules in the body, specifically gangliosides. This enzyme is composed of two subunits, alpha and beta, which are encoded by the genes HEXA and HEXB, respectively.

Deficiency or mutation in the HEXA gene can lead to a genetic disorder called Tay-Sachs disease, which is characterized by an accumulation of gangliosides in the nerve cells, leading to progressive neurological degeneration. The function of hexosaminidase A is to break down these gangliosides into simpler molecules that can be eliminated from the body. Without sufficient levels of this enzyme, the gangliosides build up and cause damage to the nervous system.

Generalized epilepsy is a type of epilepsy characterized by seizures that involve both halves of the brain (generalized onset) from the beginning of the seizure. These types of seizures include tonic-clonic (grand mal) seizures, absence (petit mal) seizures, and myoclonic seizures. Generalized epilepsy can be caused by genetic factors or brain abnormalities, and it is typically treated with medication. People with generalized epilepsy may experience difficulties with learning, memory, and behavior, and they may have a higher risk of injury during a seizure. It's important for individuals with generalized epilepsy to work closely with their healthcare team to manage their condition and reduce the frequency and severity of seizures.

Myotonic dystrophy is a genetic disorder characterized by progressive muscle weakness, myotonia (delayed relaxation of muscles after contraction), and other symptoms. It is caused by an expansion of repetitive DNA sequences in the DMPK gene on chromosome 19 (type 1) or the ZNF9 gene on chromosome 3 (type 2). These expansions result in abnormal protein production and accumulation, which disrupt muscle function and can also affect other organs such as the heart, eyes, and endocrine system. Myotonic dystrophy is a progressive disease, meaning that symptoms tend to worsen over time. It is typically divided into two types: myotonic dystrophy type 1 (DM1), which is more common and severe, and myotonic dystrophy type 2 (DM2), which tends to be milder with a later onset of symptoms.

Pantothenate Kinase-Associated Neurodegeneration (PKAN) is a rare inherited neurological disorder, specifically classified as a type of neurodegeneration with brain iron accumulation (NBIA). PKAN is caused by mutations in the PANK2 gene, which provides instructions for making an enzyme called pantothenate kinase 2. This enzyme plays a crucial role in the production of coenzyme A, a vital component in many important chemical reactions within cells.

The primary feature of PKAN is the abnormal accumulation of iron in specific areas of the brain, particularly the basal ganglia, which leads to progressive neurodegeneration. The disease typically manifests in early childhood, although late-onset forms have also been reported. Symptoms include:

1. Dystonia (involuntary muscle contractions causing slow repetitive movements or abnormal postures)
2. Parkinsonism (tremors, rigidity, and difficulty with movement initiation and coordination)
3. Retinitis pigmentosa (eye disease characterized by night blindness and progressive vision loss)
4. Speech and swallowing difficulties
5. Progressive dementia
6. Behavioral changes

The presence of iron in the brain can be observed on MRI scans, creating a characteristic "eye-of-the-tiger" sign, which is diagnostic for PKAN. Currently, there are limited treatment options available to manage symptoms and slow disease progression. Researchers continue to investigate potential therapies targeting the underlying genetic defects and iron accumulation in the brain.

Juvenile arthritis (JA) is a term used to describe a group of autoimmune and inflammatory disorders that can affect children aged 16 or younger. In JA, the immune system mistakenly attacks the body's own tissues, causing inflammation in the joints, which can lead to pain, swelling, stiffness, and damage over time.

There are several types of juvenile arthritis, including:

1. Juvenile Idiopathic Arthritis (JIA): This is the most common form of JA, and it includes several subtypes that are classified based on the number of joints affected and the presence or absence of certain symptoms.
2. Juvenile Systemic Lupus Erythematosus (JSLE): This is a type of lupus that affects children, and it can cause inflammation in various parts of the body, including the joints, skin, kidneys, and lungs.
3. Juvenile Dermatomyositis (JDM): This is a rare autoimmune disorder that causes inflammation of the blood vessels, leading to muscle weakness, skin rashes, and joint pain.
4. Juvenile Scleroderma: This is a group of disorders that cause hardening and tightening of the skin and connective tissues, which can also affect the joints.
5. Juvenile Psoriatic Arthritis (JPsA): This is a type of arthritis that affects children who have psoriasis, a chronic skin condition. JPsA can cause inflammation in the joints and skin.

The causes of juvenile arthritis are not fully understood, but it is believed to involve a combination of genetic and environmental factors. There is no cure for JA, but treatments such as medication, physical therapy, and lifestyle changes can help manage the symptoms and prevent long-term complications.

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.

A coma is a deep state of unconsciousness in which an individual cannot be awakened, cannot respond to stimuli, and does not exhibit any sleep-wake cycles. It is typically caused by severe brain injury, illness, or toxic exposure that impairs the function of the brainstem and cerebral cortex.

In a coma, the person may appear to be asleep, but they are not aware of their surroundings or able to communicate or respond to stimuli. Comas can last for varying lengths of time, from days to weeks or even months, and some people may emerge from a coma with varying degrees of brain function and disability.

Medical professionals use various diagnostic tools and assessments to evaluate the level of consciousness and brain function in individuals who are in a coma, including the Glasgow Coma Scale (GCS), which measures eye opening, verbal response, and motor response. Treatment for coma typically involves supportive care to maintain vital functions, manage any underlying medical conditions, and prevent further complications.

I'm sorry for any confusion, but "Oxazoles" is not a medical term, it is a chemical term. Oxazoles are heterocyclic aromatic organic compounds that contain a five-membered ring made up of one nitrogen atom, one oxygen atom, and three carbon atoms. They have the molecular formula C4H4NO.

Oxazoles do not have specific medical relevance, but they can be found in some natural and synthetic substances, including certain drugs and bioactive molecules. Some oxazole-containing compounds have been studied for their potential medicinal properties, such as anti-inflammatory, antimicrobial, and anticancer activities. However, these studies are primarily within the field of chemistry and pharmacology, not medicine itself.

Dermatomyositis is a medical condition characterized by inflammation and weakness in the muscles and skin. It is a type of inflammatory myopathy, which means that it causes muscle inflammation and damage. Dermatomyositis is often associated with a distinctive rash that affects the skin around the eyes, nose, mouth, fingers, and toes.

The symptoms of dermatomyositis can include:

* Progressive muscle weakness, particularly in the hips, thighs, shoulders, and neck
* Fatigue
* Difficulty swallowing or speaking
* Skin rash, which may be pink or purple and is often accompanied by itching
* Muscle pain and tenderness
* Joint pain and swelling
* Raynaud's phenomenon, a condition that affects blood flow to the fingers and toes

The exact cause of dermatomyositis is not known, but it is believed to be related to an autoimmune response in which the body's immune system mistakenly attacks healthy tissue. Treatment for dermatomyositis typically involves medications to reduce inflammation and suppress the immune system, as well as physical therapy to help maintain muscle strength and function.

Dominant genes refer to the alleles (versions of a gene) that are fully expressed in an individual's phenotype, even if only one copy of the gene is present. In dominant inheritance patterns, an individual needs only to receive one dominant allele from either parent to express the associated trait. This is in contrast to recessive genes, where both copies of the gene must be the recessive allele for the trait to be expressed. Dominant genes are represented by uppercase letters (e.g., 'A') and recessive genes by lowercase letters (e.g., 'a'). If an individual inherits one dominant allele (A) from either parent, they will express the dominant trait (A).

Muscular diseases, also known as myopathies, refer to a group of conditions that affect the functionality and health of muscle tissue. These diseases can be inherited or acquired and may result from inflammation, infection, injury, or degenerative processes. They can cause symptoms such as weakness, stiffness, cramping, spasms, wasting, and loss of muscle function.

Examples of muscular diseases include:

1. Duchenne Muscular Dystrophy (DMD): A genetic disorder that results in progressive muscle weakness and degeneration due to a lack of dystrophin protein.
2. Myasthenia Gravis: An autoimmune disease that causes muscle weakness and fatigue, typically affecting the eyes and face, throat, and limbs.
3. Inclusion Body Myositis (IBM): A progressive muscle disorder characterized by muscle inflammation and wasting, typically affecting older adults.
4. Polymyositis: An inflammatory myopathy that causes muscle weakness and inflammation throughout the body.
5. Metabolic Myopathies: A group of inherited disorders that affect muscle metabolism, leading to exercise intolerance, muscle weakness, and other symptoms.
6. Muscular Dystonias: Involuntary muscle contractions and spasms that can cause abnormal postures or movements.

It is important to note that muscular diseases can have a significant impact on an individual's quality of life, mobility, and overall health. Proper diagnosis and treatment are crucial for managing symptoms and improving outcomes.

Myositis is a medical term that refers to inflammation of the muscle tissue. This condition can cause various symptoms, including muscle weakness, pain, swelling, and stiffness. There are several types of myositis, such as polymyositis, dermatomyositis, and inclusion body myositis, which have different causes and characteristics.

Polymyositis is a type of myositis that affects multiple muscle groups, particularly those close to the trunk of the body. Dermatomyositis is characterized by muscle inflammation as well as a skin rash. Inclusion body myositis is a less common form of myositis that typically affects older adults and can cause both muscle weakness and wasting.

The causes of myositis vary depending on the type, but they can include autoimmune disorders, infections, medications, and other medical conditions. Treatment for myositis may involve medication to reduce inflammation, physical therapy to maintain muscle strength and flexibility, and lifestyle changes to manage symptoms and prevent complications.

Genetic linkage is the phenomenon where two or more genetic loci (locations on a chromosome) tend to be inherited together because they are close to each other on the same chromosome. This occurs during the process of sexual reproduction, where homologous chromosomes pair up and exchange genetic material through a process called crossing over.

The closer two loci are to each other on a chromosome, the lower the probability that they will be separated by a crossover event. As a result, they are more likely to be inherited together and are said to be linked. The degree of linkage between two loci can be measured by their recombination frequency, which is the percentage of meiotic events in which a crossover occurs between them.

Linkage analysis is an important tool in genetic research, as it allows researchers to identify and map genes that are associated with specific traits or diseases. By analyzing patterns of linkage between markers (identifiable DNA sequences) and phenotypes (observable traits), researchers can infer the location of genes that contribute to those traits or diseases on chromosomes.

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.

Medical Definition:

Magnetic Resonance Imaging (MRI) is a non-invasive diagnostic imaging technique that uses a strong magnetic field and radio waves to create detailed cross-sectional or three-dimensional images of the internal structures of the body. The patient lies within a large, cylindrical magnet, and the scanner detects changes in the direction of the magnetic field caused by protons in the body. These changes are then converted into detailed images that help medical professionals to diagnose and monitor various medical conditions, such as tumors, injuries, or diseases affecting the brain, spinal cord, heart, blood vessels, joints, and other internal organs. MRI does not use radiation like computed tomography (CT) scans.

Epigenetics is the study of heritable changes in gene function that occur without a change in the underlying DNA sequence. These changes can be caused by various mechanisms such as DNA methylation, histone modification, and non-coding RNA molecules. Epigenetic changes can be influenced by various factors including age, environment, lifestyle, and disease state.

Genetic epigenesis specifically refers to the study of how genetic factors influence these epigenetic modifications. Genetic variations between individuals can lead to differences in epigenetic patterns, which in turn can contribute to phenotypic variation and susceptibility to diseases. For example, certain genetic variants may predispose an individual to develop cancer, and environmental factors such as smoking or exposure to chemicals can interact with these genetic variants to trigger epigenetic changes that promote tumor growth.

Overall, the field of genetic epigenesis aims to understand how genetic and environmental factors interact to regulate gene expression and contribute to disease susceptibility.

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.

Recessive genes refer to the alleles (versions of a gene) that will only be expressed when an individual has two copies of that particular allele, one inherited from each parent. If an individual inherits one recessive allele and one dominant allele for a particular gene, the dominant allele will be expressed and the recessive allele will have no effect on the individual's phenotype (observable traits).

Recessive genes can still play a role in determining an individual's genetic makeup and can be passed down through generations even if they are not expressed. If two carriers of a recessive gene have children, there is a 25% chance that their offspring will inherit two copies of the recessive allele and exhibit the associated recessive trait.

Examples of genetic disorders caused by recessive genes include cystic fibrosis, sickle cell anemia, and albinism.

"Age factors" refer to the effects, changes, or differences that age can have on various aspects of health, disease, and medical care. These factors can encompass a wide range of issues, including:

1. Physiological changes: As people age, their bodies undergo numerous physical changes that can affect how they respond to medications, illnesses, and medical procedures. For example, older adults may be more sensitive to certain drugs or have weaker immune systems, making them more susceptible to infections.
2. Chronic conditions: Age is a significant risk factor for many chronic diseases, such as heart disease, diabetes, cancer, and arthritis. As a result, age-related medical issues are common and can impact treatment decisions and outcomes.
3. Cognitive decline: Aging can also lead to cognitive changes, including memory loss and decreased decision-making abilities. These changes can affect a person's ability to understand and comply with medical instructions, leading to potential complications in their care.
4. Functional limitations: Older adults may experience physical limitations that impact their mobility, strength, and balance, increasing the risk of falls and other injuries. These limitations can also make it more challenging for them to perform daily activities, such as bathing, dressing, or cooking.
5. Social determinants: Age-related factors, such as social isolation, poverty, and lack of access to transportation, can impact a person's ability to obtain necessary medical care and affect their overall health outcomes.

Understanding age factors is critical for healthcare providers to deliver high-quality, patient-centered care that addresses the unique needs and challenges of older adults. By taking these factors into account, healthcare providers can develop personalized treatment plans that consider a person's age, physical condition, cognitive abilities, and social circumstances.

Huntington Disease (HD) is a genetic neurodegenerative disorder that affects both cognitive and motor functions. It is characterized by the progressive loss of neurons in various areas of the brain, particularly in the striatum and cortex. The disease is caused by an autosomal dominant mutation in the HTT gene, which codes for the huntingtin protein. The most common mutation is a CAG repeat expansion in this gene, leading to the production of an abnormal form of the huntingtin protein that is toxic to nerve cells.

The symptoms of HD typically appear between the ages of 30 and 50, but they can start earlier or later in life. The early signs of HD may include subtle changes in mood, cognition, and coordination. As the disease progresses, individuals with HD experience uncontrolled movements (chorea), emotional disturbances, cognitive decline, and difficulties with communication and swallowing. Eventually, they become dependent on others for their daily needs and lose their ability to walk, talk, and care for themselves.

There is currently no cure for HD, but medications and therapies can help manage the symptoms of the disease and improve quality of life. Genetic testing is available to confirm the diagnosis and provide information about the risk of passing the disease on to future generations.

Genetic predisposition to disease refers to an increased susceptibility or vulnerability to develop a particular illness or condition due to inheriting specific genetic variations or mutations from one's parents. These genetic factors can make it more likely for an individual to develop a certain disease, but it does not guarantee that the person will definitely get the disease. Environmental factors, lifestyle choices, and interactions between genes also play crucial roles in determining if a genetically predisposed person will actually develop the disease. It is essential to understand that having a genetic predisposition only implies a higher risk, not an inevitable outcome.

Electroencephalography (EEG) is a medical procedure that records electrical activity in the brain. It uses small, metal discs called electrodes, which are attached to the scalp with paste or a specialized cap. These electrodes detect tiny electrical charges that result from the activity of brain cells, and the EEG machine then amplifies and records these signals.

EEG is used to diagnose various conditions related to the brain, such as seizures, sleep disorders, head injuries, infections, and degenerative diseases like Alzheimer's or Parkinson's. It can also be used during surgery to monitor brain activity and ensure that surgical procedures do not interfere with vital functions.

EEG is a safe and non-invasive procedure that typically takes about 30 minutes to an hour to complete, although longer recordings may be necessary in some cases. Patients are usually asked to relax and remain still during the test, as movement can affect the quality of the recording.

Follow-up studies are a type of longitudinal research that involve repeated observations or measurements of the same variables over a period of time, in order to understand their long-term effects or outcomes. In medical context, follow-up studies are often used to evaluate the safety and efficacy of medical treatments, interventions, or procedures.

In a typical follow-up study, a group of individuals (called a cohort) who have received a particular treatment or intervention are identified and then followed over time through periodic assessments or data collection. The data collected may include information on clinical outcomes, adverse events, changes in symptoms or functional status, and other relevant measures.

The results of follow-up studies can provide important insights into the long-term benefits and risks of medical interventions, as well as help to identify factors that may influence treatment effectiveness or patient outcomes. However, it is important to note that follow-up studies can be subject to various biases and limitations, such as loss to follow-up, recall bias, and changes in clinical practice over time, which must be carefully considered when interpreting the results.

The brain is the central organ of the nervous system, responsible for receiving and processing sensory information, regulating vital functions, and controlling behavior, movement, and cognition. It is divided into several distinct regions, each with specific functions:

1. Cerebrum: The largest part of the brain, responsible for higher cognitive functions such as thinking, learning, memory, language, and perception. It is divided into two hemispheres, each controlling the opposite side of the body.
2. Cerebellum: Located at the back of the brain, it is responsible for coordinating muscle movements, maintaining balance, and fine-tuning motor skills.
3. Brainstem: Connects the cerebrum and cerebellum to the spinal cord, controlling vital functions such as breathing, heart rate, and blood pressure. It also serves as a relay center for sensory information and motor commands between the brain and the rest of the body.
4. Diencephalon: A region that includes the thalamus (a major sensory relay station) and hypothalamus (regulates hormones, temperature, hunger, thirst, and sleep).
5. Limbic system: A group of structures involved in emotional processing, memory formation, and motivation, including the hippocampus, amygdala, and cingulate gyrus.

The brain is composed of billions of interconnected neurons that communicate through electrical and chemical signals. It is protected by the skull and surrounded by three layers of membranes called meninges, as well as cerebrospinal fluid that provides cushioning and nutrients.

A case-control study is an observational research design used to identify risk factors or causes of a disease or health outcome. In this type of study, individuals with the disease or condition (cases) are compared with similar individuals who do not have the disease or condition (controls). The exposure history or other characteristics of interest are then compared between the two groups to determine if there is an association between the exposure and the disease.

Case-control studies are often used when it is not feasible or ethical to conduct a randomized controlled trial, as they can provide valuable insights into potential causes of diseases or health outcomes in a relatively short period of time and at a lower cost than other study designs. However, because case-control studies rely on retrospective data collection, they are subject to biases such as recall bias and selection bias, which can affect the validity of the results. Therefore, it is important to carefully design and conduct case-control studies to minimize these potential sources of bias.

Genotype, in genetics, refers to the complete heritable genetic makeup of an individual organism, including all of its genes. It is the set of instructions contained in an organism's DNA for the development and function of that organism. The genotype is the basis for an individual's inherited traits, and it can be contrasted with an individual's phenotype, which refers to the observable physical or biochemical characteristics of an organism that result from the expression of its genes in combination with environmental influences.

It is important to note that an individual's genotype is not necessarily identical to their genetic sequence. Some genes have multiple forms called alleles, and an individual may inherit different alleles for a given gene from each parent. The combination of alleles that an individual inherits for a particular gene is known as their genotype for that gene.

Understanding an individual's genotype can provide important information about their susceptibility to certain diseases, their response to drugs and other treatments, and their risk of passing on inherited genetic disorders to their offspring.

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.

Pregnancy is a physiological state or condition where a fertilized egg (zygote) successfully implants and grows in the uterus of a woman, leading to the development of an embryo and finally a fetus. This process typically spans approximately 40 weeks, divided into three trimesters, and culminates in childbirth. Throughout this period, numerous hormonal and physical changes occur to support the growing offspring, including uterine enlargement, breast development, and various maternal adaptations to ensure the fetus's optimal growth and well-being.

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.

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.

X-ray computed tomography (CT or CAT scan) is a medical imaging method that uses computer-processed combinations of many X-ray images taken from different angles to produce cross-sectional (tomographic) images (virtual "slices") of the body. These cross-sectional images can then be used to display detailed internal views of organs, bones, and soft tissues in the body.

The term "computed tomography" is used instead of "CT scan" or "CAT scan" because the machines take a series of X-ray measurements from different angles around the body and then use a computer to process these data to create detailed images of internal structures within the body.

CT scanning is a noninvasive, painless medical test that helps physicians diagnose and treat medical conditions. CT imaging provides detailed information about many types of tissue including lung, bone, soft tissue and blood vessels. CT examinations can be performed on every part of the body for a variety of reasons including diagnosis, surgical planning, and monitoring of therapeutic responses.

In computed tomography (CT), an X-ray source and detector rotate around the patient, measuring the X-ray attenuation at many different angles. A computer uses this data to construct a cross-sectional image by the process of reconstruction. This technique is called "tomography". The term "computed" refers to the use of a computer to reconstruct the images.

CT has become an important tool in medical imaging and diagnosis, allowing radiologists and other physicians to view detailed internal images of the body. It can help identify many different medical conditions including cancer, heart disease, lung nodules, liver tumors, and internal injuries from trauma. CT is also commonly used for guiding biopsies and other minimally invasive procedures.

In summary, X-ray computed tomography (CT or CAT scan) is a medical imaging technique that uses computer-processed combinations of many X-ray images taken from different angles to produce cross-sectional images of the body. It provides detailed internal views of organs, bones, and soft tissues in the body, allowing physicians to diagnose and treat medical conditions.

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.

... (AOSD) is a form of Still's disease, a rare systemic autoinflammatory disease characterized by the ... "Adult-onset Still's disease ,". Genetic and Rare Diseases Information Center (GARD). Archived from the original on 2021-03-18. ... People with chronic articular disease and polyarticular disease were at higher risk to develop disabling arthritis. Adult-onset ... "FDA Approves First Treatment for Adult Onset Still's Disease, a Severe and Rare Disease". FDA. Retrieved 2020-06-21. Cecilia ...
The Daily Beast has described this disease emphatically as not AIDS 2.0. "GARD Rare Disease Information - Adult-onset ... Adult-onset immunodeficiency syndrome is a type of immunodeficiency. It is linked to vulnerability to disseminated infections ... There is currently no standard medication for Adult-onset immunodeficiency syndrome, and treatment is dependent on the ... Long-term antibiotic therapy and rituximab therapy have been used to manage Adult-onset immunodeficiency syndrome. Multiple ...
Engel WK, Oberc MA (March 1975). "Abundant nuclear rods in adult-onset rod disease". Journal of Neuropathology and Experimental ... Sporadic late-onset nemaline myopathy, or SLONM, is a very rare disease, one of the nemaline myopathies, causing loss of muscle ... Keller CE, Hays AP, Rowland LP, Moghadaszadeh B, Beggs AH, Bhagat G (January 2006). "Adult-onset nemaline myopathy and ... Engel, W.K.; Resnick, J.S. (1966). "Late onset rod myopathy: a newly recognized, acquired, and progressive disease". Neurology ...
Adult-onset VWM disease can present with psychosis and may be hard to differentiate from schizophrenia. Common misdiagnosis ... The disease belongs to a family of conditions called the Leukodystrophies.[citation needed] Onset usually occurs in childhood, ... Denier C, Orgibet A, Roffi F, Jouvent E, Buhl C, Niel F, Boespflug-Tanguy O, Said G, Ducreux D (2007). "Adult-onset vanishing ... Neurological abnormalities may not always be present in those who experience onset as adults. Symptoms generally appear in ...
... the phenotype for juvenile Huntington's disease clearly differs from adult-onset Huntington's disease and late-onset ... Diseases are often categorized by their ages of onset as congenital, infantile, juvenile, or adult. Missed or delayed diagnosis ... is present in adults, and vice versa (such as arthritis). Depending on the disease, ages of onset may impact features such as ... "Comparison of mid-age-onset and late-onset Huntington's disease in Finnish patients". Journal of Neurology. 264 (10): 2095-2100 ...
Adult-onset Still's disease is an inflammatory disease that may cause intermittent fever, characteristically a quotidian fever ... Gerfaud-Valentin, Mathieu; Jamilloux, Yvan; Iwaz, Jean; Sève, Pascal (2014). "Adult-onset Still's disease". Autoimmunity ... Lyme disease without erythema chronicum migrans". Der Internist. 29 (11): 778-80. doi:10.1007/978-3-662-39609-4_126. PMID ... This type of fever usually occurs during the course of an infectious disease. Diagnosis of intermittent fever is frequently ...
Adult-onset muscle weakness. Accumulation of the intermediate filament desmin in the myofibers of the patients. ... "Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus". Frontiers in Neurology. 12: 739931. ... "Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international ... Pompe Disease is also known as GSD-II). A non-profit, federation of Pompe disease patient's groups world-wide. It seeks to ...
Kumar S, Gupta N, Jhamb R, Mishra D (2007). "Celiac disease: Association with adult-onset Still's disease: Apropos of a ... With some early onset and a large percentage of late onset disease, other disorders appear prior to the coeliac diagnosis or ... However, GSEs' association with disease is not limited to common autoimmune diseases. Coeliac disease has been found at ... IBD was increased 10 fold in coeliac disease. Inflammatory bowel disease consists of Crohn's disease, ulcerative colitis and ...
"leukodystrophy, demyelinating, adult-onset, autosomal dominant". "Autosomal Dominant Leukodystrophy, Adult Onset". www.nemours. ... Adult-Onset Autosomal Dominant Leukodystrophy with Autonomic Symptoms, Autosomal Dominant Adult-Onset Demyelinating ... "Autosomal dominant leukodystrophy with autonomic disease - About the Disease - Genetic and Rare Diseases Information Center". ... "Adult Onset Autosomal Dominant (ADLD) - Causes, Treatment & Symptoms". Hunter's Hope. Retrieved 2022-08-16. Lynch, David S.; ...
Owlia, MB; Mehrpoor, G (May 2009). "Adult-onset Still's disease: a review" (PDF). Indian Journal of Medical Sciences. 63 (5): ... granulomatosis with polyangiitis Human immunodeficiency virus Extrinsic allergic alveolitis Adult-onset Still's disease M. ... Whipple's disease) Malignancy Lymphoma Carcinoma Mediastinal tumors Inorganic dust disease Silicosis Berylliosis Extrinsic ... Part II: diseases and pitfalls". The British Journal of Radiology. 79 (948): 999-1000. doi:10.1259/bjr/82484604. PMID 16641412 ...
"Aseptic meningitis in adult onset Still's disease". Rheumatology International. 32 (12): 4031-4034. doi:10.1007/s00296-010-1529 ... Lyme disease Sjögren's disease Hashimoto's thyroiditis Celiac disease Non-celiac gluten sensitivity Inflammatory bowel disease ... Adults with co-morbid conditions, such as heart disease, diabetes, and obesity, were seen to have a higher than average ... Arthritis is predominantly a disease of the elderly, but children can also be affected by the disease. Arthritis is more common ...
... or collagen vascular disease) must be ruled out. Other examples include: Adult-onset Still's disease Behçet's disease Bell's ... "Aseptic meningitis in adult onset Still's disease". Rheumatol Int. 32 (12): 4031-4034. doi:10.1007/s00296-010-1529-8. PMID ... "Behcet Disease: Overview - eMedicine Dermatology". Retrieved 2009-03-28. Petruzzelli GJ, Hirsch BE (August 1991). "Bell's palsy ... Leviner, Sherry (7 May 2021). "Recognizing the Clinical Sequelae of COVID-19 in Adults: COVID-19 Long-Haulers". The Journal for ...
Adult onset of Kawasaki disease is rare. The presentation differs between adults and children: in particular, it seems that ... Around 11% of children affected by the disease may continue skin-peeling for many years. One to two months after the onset of ... The highest risk of MI occurs in the first year after the onset of the disease. MI in children presents with different symptoms ... Within three weeks of the onset, the skin from the hands and feet may peel, after which recovery typically occurs. The disease ...
However, adult-onset cases have also been described. See also Addison's disease. Affected males may also lack male sex hormones ... "A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism". J. Clin. ...
"Discovering Inherited Adult-Onset Deafness in Border Collies". Archived from the original on 16 February 2013. "Dog disease ... The second type is known as adult-onset hearing loss. These dogs have a normal auditory brainstem response test as pups but ... A study is currently underway at The Translational Genomics Research Institute to identify the genetic cause of adult-onset ... The mutation causing the form of the disease found in border collies was identified by Scott Melville in the laboratory of Alan ...
"Endocrine Disruptor Vinclozolin Induced Epigenetic Transgenerational Adult-Onset Disease". Endocrinology. 147 (12): 5515-23. ... F1-F4 generation males all showed an increase in the prevalence of tumors, prostate disease, kidney disease, test abnormalities ... However, the same study in vivo using adult male rats showed no effects. When mice experienced vinclozolin exposure in utero, ... After three generations, male offspring continued to show low sperm count, prostate disease and high rates of testicular cell ...
DRPLA is most similar to Huntington's disease.[citation needed] DRPLA can be juvenile-onset (. 40 years). Late adult-onset ... Early adult-onset DRPLA also includes seizures and myoclonus. Juvenile-onset DRPLA presents with ataxia and symptoms consistent ... Other diseases in the differential diagnosis of adult-onset DRPLA include Huntington's and the spinocerebellar ataxias. For ... is more severe than the dentatorubral degeneration in juvenile-onset and the reverse is true for the late adult-onset. ...
Unlike MS, ADEM occurs usually in children and is marked with rapid fever, although adolescents and adults can get the disease ... or sudden onset. Children tend to have more favorable outcomes than adults, and cases presenting without fevers tend to have ... Autoimmune diseases, Central nervous system disorders, Enterovirus-associated diseases, Measles, Rare diseases). ... This disease has been occasionally associated with ulcerative colitis and Crohn's disease, malaria, sepsis associated with ...
... and neuronal degradation similar to Huntington's disease. The average age of onset of symptoms is 35 years. The disease is ... Chorea-acanthocytosis is a very complex autosomal recessive adult-onset neurodegenerative disorder. It often shows itself as a ... There are multiple symptoms that can help this disease to be diagnosed, this disease is marked by the presence of acanthocytes ... People afflicted by this disease also experience a loss of neurons. Loss of neurons is a hallmark of neurodegenerative diseases ...
Emily is diagnosed with a rare adult-onset Still's disease. She will fully recover but has lower inhibitions, and rebuffs ... Films about diseases and disorders, Films about interracial romance, Films about Pakistani Americans, Films directed by Michael ...
"Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease". New England Journal of Medicine. 383 (27): 2628- ... "New inflammatory disease discovered". National Institutes of Health (NIH). 2020-11-02. Retrieved 2022-07-18. Leslie, Mitch (23 ... In 2021, Beck joined the New York University Grossman School of Medicine faculty where he runs the Inflammatory Diseases ... Marcela Ferrada, M. D. (2022-01-18). "VEXAS Syndrome". National Institute of Arthritis and Musculoskeletal and Skin Diseases. ...
"Ethical and legal dilemmas arising during predictive testing for adult-onset disease: the experience of Huntington disease". ... Borry P, Goffin T, Nys H, Dierickx K (2008). "Predictive genetic testing in minors for adult-onset genetic diseases". The Mount ... Chapman MA (July 1990). "Predictive testing for adult-onset genetic disease: ethical and legal implications of the use of ... "The Venezuela Huntington's disease project". Hereditary Disease Foundation website. Hereditary Disease Foundation. 2008. ...
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease. N Engl J Med. 2020 Dec 31;383(27):2628-2638. Patel ... 2017 Apr 20;376(16):1540-1550.[8] Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease. N Engl J Med. 2020 ... Viruses As Agents of Haematological Disease. London: Baillière Tindall, 1995. Calado RT, Young NS. Telomere diseases. N Engl J ... Somatic Mutations in "Benign" Disease. N Engl J Med. 2021 May 27;384(21):2039-2052[6] Danazol Treatment for Telomere Diseases. ...
65mg capsules for adults living with late-onset Pompe disease weighing more than 40 kg and who are not improving on their ... Prognosis depends on the age of onset of symptoms with a better prognosis being associated with later onset disease.[citation ... GSD-II and Danon disease are the only glycogen storage diseases with a defect in lysosomal metabolism, and Pompe disease was ... GeneReview/NIH/UW entry on Glycogen Storage Disease Type II (Pompe Disease) Understanding Pompe Disease - US National Institute ...
"Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease". New England Journal of Medicine. 383 (27): 2628- ... This protein has been linked to X-linked spinal muscular atrophy type 2, neurodegenerative diseases, and cancers. The UBA1 gene ... UBA1 has also been implicated in other neurodegenerative diseases, including spinal muscular atrophy, as well as cancer and ... "Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy" (PDF). JCI Insight. 1 (11): e87908. doi:10.1172/ ...
... is an adult-onset autoinflammatory disease primarily affecting males, caused by a somatic mutation of the UBA1 ... 27 October 2020). "Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease". New England Journal of Medicine ... and adult-onset recurrent autoimmune diseases such as relapsing polychondritis. Since VEXAS was first described in 2020, there ... we identified a disorder that connects seemingly unrelated adult-onset inflammatory syndromes". An editorial in the same issue ...
27 October 2020). "Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease". New England Journal of Medicine ... As of 2021[update] he is working on Behçet's disease. As of 2021[update] Kastner has said that he plans to leave his post of ... He was awarded the 2021 Crafoord Prize for Polyarthritis for his pioneering work on autoinflammatory diseases. Kastner was born ... "VEXAS: how a deadly disease was discovered". www.thenakedscientists.com. 13 November 2020. Archived from the original on 16 ...
Adult-onset forms of Alexander disease are less common. The symptoms sometimes mimic those of Parkinson's disease or multiple ... It is even possible to detect adult-onset Alexander disease with MRI. Alexander disease may also be revealed by genetic testing ... Wikimedia Commons has media related to Alexander disease. OMIM entries on Alexander disease Infantile-onset Alexander disease ... June 2008). "Can MR imaging diagnose adult-onset Alexander disease?". AJNR Am J Neuroradiol. 29 (6): 1190-6. doi:10.3174/ajnr. ...
Sullins, Donald Paul (29 May 2016). "Invisible victims: delayed onset depression among adults with same-sex parents". ... US Centers for Disease Control and Prevention (16 September 2022). "Sexually Transmitted Diseases Among Gay and Bisexual Men". ... Centers for Disease Control and Prevention (2021), HIV Surveillance Report: Diagnoses of HIV Infection in the United States and ... Relying on the US Centers for Disease Control and Prevention report that gay and bisexual men are at high risk for sexually ...
2007). "Dermatopathic lymphadenopathy in a patient with adult onset Still's disease". Clin Exp Rheumatol. 25 (2): 312-14. PMID ... Skin disease List of cutaneous conditions Lee, SW.; Park, MC.; Kim, H.; Park, YB.; Lee, SK. ( ... Also known as lipomelanotic reticulosis or Pautrier-Woringer disease, represents a rare form of benign lymphatic hyperplasia ... In pathology, dermatopathic lymphadenopathy, is lymph node pathology due to skin disease. ...
In this family, 17 out of 71 subjects from 4 generations were affected with this disease. It was found that the age onset of ... LENAS normally has an adult onset (but also can be present in childhood), which can present on MRIs that mimics progressive ... Testing Resources ALSP Aware is a testing opportunity provided at no-cost for individuals with a family history of Adult-Onset ... Ali, Zarina S.; Van Der Voorn, J. Patrick; Powers, James M. (July 2007). "A comparative morphologic analysis of adult onset ...
Kawasaki disease, and adult-onset Still's disease. It is thought to be closely related and pathophysiologically very similar to ... It occurs most commonly with systemic-onset juvenile idiopathic arthritis (SoJIA). In addition, MAS has been described in ... Macrophage activation syndrome is a severe, potentially life-threatening, complication of several chronic rheumatic diseases of ...
Adult-onset Stills disease (AOSD) is a form of Stills disease, a rare systemic autoinflammatory disease characterized by the ... "Adult-onset Stills disease ,". Genetic and Rare Diseases Information Center (GARD). Archived from the original on 2021-03-18. ... People with chronic articular disease and polyarticular disease were at higher risk to develop disabling arthritis. Adult-onset ... "FDA Approves First Treatment for Adult Onset Stills Disease, a Severe and Rare Disease". FDA. Retrieved 2020-06-21. Cecilia ...
The research on AoSD focuses on the diagnosis and differential diagnosis of the disease. Targeted therapy will become a ... Bibliometrics and Visual Analysis of Adult-onset Still Disease (1976-2020) Front Public Health. 2022 Jun 15:10:884780. doi: ... Background: Adult-onset Still Disease (AoSD) is a rare disorder without standardized diagnostic criteria. People are paying ... Conclusions: The research on AoSD focuses on the diagnosis and differential diagnosis of the disease. Targeted therapy will ...
Disseminated Mycobacterium genavense Infection in Patient with Adult-Onset Immunodeficiency. Emerging Infectious Diseases. 2017 ... Browne SK, Burbelo PD, Chetchotisakd P, Suputtamongkol Y, Kiertiburanakul S, Shaw PA, et al. Adult-onset immunodeficiency in ... Disseminated Mycobacterium genavense Infection in Patient with Adult-Onset Immunodeficiency. Emerging Infectious Diseases, 23(7 ... Adult-onset immunodeficiency acquired by neutralizing anti-IFN-γ autoantibodies, in addition to HIV infection, can lead to ...
... including juvenile idiopathic arthritis and adult onset Stills disease (AOSD).1-,5 The treatment of these diseases includes ... We report a favourable response to anakinra in a patient unresponsive to several disease modifying antirheumatic drugs (DMARDs ... and IL1 have been implicated in the pathogenesis of several chronic rheumatic inflammatory diseases, ...
Relevance for other adult-onset disorders. The Canadian Collaborative Group on Predictive Testing for Huntington Disease JAMA. ... This has implications for the expected demands for testing services for other adult-onset genetic disorders. ... Attitudes toward direct predictive testing for the Huntington disease gene. ... direct mutation testing by individuals at risk for Huntington disease (HD). ...
... with both stroke-like onset and encephalitic attacks: a case report. Download Prime PubMed App to iPhone, iPad, or Android ... Adult-onset neuronal intranuclear inclusion disease, with both stroke-like onset and encephalitic attacks: a case report.. BMC ... "Adult-onset Neuronal Intranuclear Inclusion Disease, With Both Stroke-like Onset and Encephalitic Attacks: a Case Report." BMC ... Adult-onset neuronal intranuclear inclusion disease, with both stroke-like onset and encephalitic attacks: a case report. BMC ...
Early pathogenesis in the adult-onset neurodegenerative disease amyotrophic lateral sclerosis. J Cell Biochem. 2012 Nov; 113(11 ...
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a neurological condition characterized by ... HDLS and POLD are now considered to be part of the same disease spectrum, which researchers have recommended calling ALSP. ... medlineplus.gov/genetics/condition/adult-onset-leukoencephalopathy-with-axonal-spheroids-and-pigmented-glia/ Adult-onset ... CSF1R-Related Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia. 2012 Aug 30 [updated 2017 Oct 5]. In: ...
The risk of developing additional autoimmune conditions rises with age of type 1 diabetes onset. ... Cite this: Adult-Onset Type 1 Diabetes, Other Autoimmune Diseases Linked - Medscape - Mar 27, 2018. ... The median age of onset for Crohns disease and psoriasis was in the 20s, while lupus, rheumatoid arthritis, and pernicious ... The mean age of participants was 46.9 years and of type 1 diabetes onset was 21.3 years (range 1-78 years). Diabetes onset ...
... is the most common chronic childhood disease. Prevalence of childhood asthma in the United States is 5.8%. In boys, prevalence ... Between adult-onset asthma compared to childhood onset asthma, adult-onset asthma had slightly greater and more severe MDD and ... and adult-onset asthma (AOA) included 4.79%. Median age of COA is 5 years and AOA is 41 years. Among the asthma groups, most ... Asthma and childhood onset asthma were assessed using questionnaires MCQ010 and MCQ025, respectively. Sociodemographic ...
Find support organizations and financial resources for Childhood-onset autosomal recessive slowly progressive spinocerebellar ... Is Your Child Transitioning From Pediatric to Adult Care? *For young adults with rare diseases, guidance and financial advocacy ... Is Your Child Transitioning From Pediatric to Adult Care? *For young adults with rare diseases, guidance and financial advocacy ... Rare diseases are not rare. About 30 million people in the U.S. are affected by a rare disease. As you and your caregivers ...
Adult-Onset Still`s Disease - a Clinical Case ... Adult-onset Still`s disease (AOSD) is a type of systemic onset ... Adult-Onset Still`s Disease - a Clinical Case. Joana Andonova, Violeta Dimitrova, Kalina Chavdarova, Maria Dimova, Vesela ... The condition may present with a sudden onset and symptoms may disappear and never occur again after treatment initiation, it ... s disease is a diagnosis of exclusion but should be taken into account in the process of diagnosing and managing unexplained ...
Fever, Skin rash, Arthralgia, Adult onset Stills disease Abstract. Adult Stills disease (ASD) is a systemic inflammatory ... Adult onset Stills disease: a diagnostic challenge Authors. * Rahul Jain Department of General Medicine, Grant Govt. Medical ... Ichiki H., Shishido M., Nishiyama S. Two cases of adult onset of Stills disease in the elderly. Nippon Ronen Igakkai Zasshi. ... Crispin JC, Martinez-Banos D, Alcocer-Varela J. Adult-onset Still disease as the cause of fever of unknown origin. Medicine ( ...
4Neurology, Western Australian Adult Epilepsy Service, Perth, Western Australia, Australia. *Correspondence to Dr Albert Kelly ... Lafora body disease: a case of progressive myoclonic epilepsy. Ranjot Kaur et al., BMJ Case Reports, 2020 ... Genetic sequencing identified a homozygous missense variant in the CLN6 gene (c.768C,G p.(Asp256Glu), confirming Kufs disease ...
Adult-onset immunodeficiency syndrome. *Other autoimmune diseases. Young farmers in certain parts of Southeast Asia, southern ... Content source: Centers for Disease Control and Prevention, National Center for Emerging and Zoonotic Infectious Diseases ( ... The Centers for Disease Control and Prevention (CDC) cannot attest to the accuracy of a non-federal website. ... Centers for Disease Control and Prevention. CDC twenty four seven. Saving Lives, Protecting People ...
... a rare disease, including signs & symptoms, diagnosis, and proper treatment options. ... Learn more about Adult-Onset Stills Disease (AOSD), ... What Is Adult-Onset Stills Disease?. Adult-onset Stills ... How Is Adult-Onset Stills Disease Treated?. In people with adult-onset Stills disease (AOSD), the immune system does not work ... How Do I Know If I Have Adult-Onset Stills Disease?. Adult-onset Stills disease (AOSD) is a rare inflammatory condition that ...
ICD-10 code M08.26 for Juvenile rheumatoid arthritis with systemic onset, knee is a medical classification as listed by WHO ... Juvenile rheumatoid arthritis with systemic onset, knee M08.2. Excludes1: adult-onset Stills disease (M06.1-) ... ICD-10-CM Code for Juvenile rheumatoid arthritis with systemic onset, knee M08.26 ICD-10 code M08.26 for Juvenile rheumatoid ... Excludes1: arthropathy in Whipples disease (M14.8). Feltys syndrome (M05.0). juvenile dermatomyositis (M33.0-). psoriatic ...
... is a common disease for males ,40 years old and is closely associated with age-related comorbidities. Phthalates are compounds ... is a common disease for males ,40 years old and is closely associated with age-related comorbidities. Phthalates are compounds ... Objective: Adult-onset hypogonadism (AOH) is a common disease for males ,40 years old and is closely associated with age- ... adult-onset hypogonadism (AOH) is usually named late-onset hypogonadism (LOH). In heathy, young eugonadal males (defined as men ...
Adult-onset Stills disease (AOSD). *For adult members who have received a biologic indicated for active adult-onset Stills ... Adult onset Stills disease. Available at: https://rarediseases.org/rare-diseases/adult-onset-stills-disease/. Accessed July 6 ... Adult-onset Stills disease (AOSD). For all adult members (including new members) who are using the requested medication for ... Stills Disease (AOSD). Adult-onset Stills disease (AOSD) is a rare type of inflammatory arthritis that affects the entire ...
... aged 40 or younger are far more likely to develop cardiovascular disease (CVD) and die prematurely than those under 40 in the ... However, onset in young adults is becoming more common globally and is typically a more aggressive form that leads to earlier ... Young-onset type 2 diabetes linked to substantially higher risk of cardiovascular disease and death, finds study. ... Young-onset type 2 diabetes linked to substantially higher risk of cardiovascular disease and death, finds study. by ...
... study aims to compare fluid and tissue samples from the nose and lungs of healthy adults with people who have a lung disease. ... Are you an adult who does not have high blood pressure and is interested in research? This study will investigate how the brain ... Find studies for diseases and conditions and see if you or a loved one is eligible. ... The NHLBI leads or sponsors studies for patients who have heart, lung, blood, or sleep related diseases or disorders. ...
Comorbidities and clinical outcomes in adult- and juvenile-onset Huntingtons disease: a study of linked Swedish National ... adult onset HD; AoHD) or below (juvenile-onset HD; JoHD) 20 years of age, compared with a matched cohort without HD from the ... Background: Huntingtons disease (HD) is a rare, neurodegenerative disease and its complex motor, cognitive and psychiatric ... Disease burden of all individuals alive in Sweden was described during a single calendar year (2018), including the occurrence ...
Dive into the research topics of Comorbidities and clinical outcomes in adult- and juvenile-onset Huntingtons disease: a ... Comorbidities and clinical outcomes in adult- and juvenile-onset Huntingtons disease: a study of linked Swedish National ... Comorbidities and clinical outcomes in adult- and juvenile-onset Huntingtons disease: a study of linked Swedish National ... Comorbidities and clinical outcomes in adult- and juvenile-onset Huntingtons disease : a study of linked Swedish National ...
Are you an adult with sickle cell disease or would like to help research? Some people who have sickle cell disease are at ... Are you an adult willing to give blood samples? This study investigates ways to prevent blood clotting in people with sickle ... study aims to compare fluid and tissue samples from the nose and lungs of healthy adults with people who have a lung disease. ... Participants in this study must be between 18 and 80 years old and be either a healthy volunteer or have sickle cell disease or ...
Adults who develop late-onset asthma may face a raised risk of heart disease and stroke, a new study found. Looking at 1... ... Late-onset asthma may raise adults heart disease, stroke risk. (RxWiki News) Adults who develop late-onset asthma may face a ... "Late-Onset Asthma Predicts Cardiovascular Disease Events: The Wisconsin Sleep Cohort" American Heart Association, "Late-onset ... Late-onset asthma develops later in patients lives than early-onset asthma and tends to be more severe and harder to control ...
Adult-onset Stills disease. *During postmarketing use, Adult Onset Stills Disease (AOSD) reported; AOSD is a rare ... Therapy associated with moderate emetic potential in adults in the oncology setting; may recommend antiemetics to prevent ... In mothers with Graves disease, maternal thyroid stimulating hormone receptor antibodies may transfer to a developing fetus ... Unless an emergency, administer only irradiated blood products to avoid transfusion-associated graft versus host disease ...
The patient is diagnosed with Adult-Onset Stills Disease with secondary amenorrhoea. Conclusion: This case is rarely found, so ... strategies from various studies have benefited from advances in understanding autoinflammatory and autoimmune diseases. Case ... Adult-Onset Stills Disease (AOSD) is a rare multisystemic autoinflammatory disorder with an unknown etiology, and the diagnosis ... Background: Adult-Onset Stills Disease (AOSD) is a rare multisystemic autoinflammatory disorder with an unknown etiology, and ...
"Interluekin-6 inhibitors for the treatment of adult-onset Stills disease",. abstract = "Adult-onset Stills disease is a ... cytokines of adult-onset Stills disease and the efficacy of IL-6 inhibitors for the treatment of adult-onset Stills disease. ... cytokines of adult-onset Stills disease and the efficacy of IL-6 inhibitors for the treatment of adult-onset Stills disease. ... cytokines of adult-onset Stills disease and the efficacy of IL-6 inhibitors for the treatment of adult-onset Stills disease. ...
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) is a condition that can affect the ... About half of all adults with IBMPFD develop a disorder called Paget disease of bone. This disorder causes bones to grow larger ... Genetic and Rare Diseases Information Center. *Inclusion body myopathy with early-onset Paget disease and frontotemporal ... Catalog of Genes and Diseases from OMIM. *INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL ...
Perspectives on the use of non-biological pharmacotherapy for adult-onset Stills disease. Di Cola I.;Cipriani P.;Ruscitti P. ... Introduction: The treatment of the patients with adult-onset Stills disease (AOSD) remains largely empirical and it is based ... Introduction: The treatment of the patients with adult-onset Stills disease (AOSD) remains largely empirical and it is based ... administered at the beginning of the disease. As second-line therapy, conventional synthetic disease modifying anti-rheumatic ...
  • Adult-onset Still's disease (AOSD) is a form of Still's disease, a rare systemic autoinflammatory disease characterized by the classic triad of fevers, joint pain, and a distinctive salmon-colored bumpy rash. (wikipedia.org)
  • Obvious similarities exist with juvenile rheumatoid arthritis (also known as "juvenile-onset Still's disease"), and there is some evidence that the two conditions are closely related. (wikipedia.org)
  • Patients experiencing a flare-up from adult-onset Still's disease usually report extreme fatigue, swelling of the lymph nodes and, less commonly, fluid accumulation in the lungs and heart. (wikipedia.org)
  • The cause of adult-onset Still's disease is unknown and it is not heritable, but it presumably involves interleukin-1 (IL-1), since medications that block the action of IL-1β are effective treatments. (wikipedia.org)
  • One set of 21 adult-onset Still's disease patients were divided into four types, according to clinical course patterns. (wikipedia.org)
  • Adult-onset Still's disease is treated with anti-inflammatory medications. (wikipedia.org)
  • The condition "juvenile-onset Still's disease" is now usually grouped under juvenile rheumatoid arthritis. (wikipedia.org)
  • Adult-onset Still's disease is rare and has been described all over the world. (wikipedia.org)
  • Still's disease is named after English physician Sir George Frederic Still (1861-1941). (wikipedia.org)
  • Proinflammatory cytokines like tumour necrosis factor α (TNFα), interleukin (IL) 6, IL18, and IL1 have been implicated in the pathogenesis of several chronic rheumatic inflammatory diseases, including juvenile idiopathic arthritis and adult onset Still's disease (AOSD). (bmj.com)
  • Adult Still's disease (ASD) is a systemic inflammatory disorder of unknown etiology, typically characterized by a clinical triad of daily spiking high fevers, evanescent rash, and arthritis. (ijord.com)
  • After ruling out systemic infections, localized infections, malignancies and other rheumatological diseases, Adult onset Still's disease diagnosis was made according to Yamaguchi criteria (having 4 major features and 3 minor features). (ijord.com)
  • Adult Still's disease: manifestations, disease course, and outcome in 62 patients. (ijord.com)
  • Adult Still's disease-recognition of a clinical syndrome and recent experience. (ijord.com)
  • Efthimiou P, Paik PK, Bielory L. Diagnosis and management of adult onset Still's disease. (ijord.com)
  • Anakinra in patients with treatment-resistant adult-onset Still's disease. (ijord.com)
  • Tocilizumab in refractory adult Still's disease. (ijord.com)
  • Owlia M., Mehrpoor G. Adult onset still's disease: a review. (ijord.com)
  • Ichiki H., Shishido M., Nishiyama S. Two cases of adult onset of Still's disease in the elderly. (ijord.com)
  • Yamaguchi M, Ohta A, Tsunematsu T, Kasukawa R, Mizushima Y, Kashiwagi H. et al Preliminary criteria for classification of adult Still's disease. (ijord.com)
  • What Is the Difference Between Still's Disease, Juvenile Idiopathic Arthritis, and Rheumatoid Arthritis? (raredisease.net)
  • Adult-onset Still's disease (AOSD), systemic juvenile idiopathic arthritis (SJIA), and rheumatoid arthritis (RA) are all forms of arthritis that share many similar features. (raredisease.net)
  • Adult-onset Still's disease (AOSD) is a rare type of autoinflammatory arthritis. (raredisease.net)
  • How Do I Know If I Have Adult-Onset Still's Disease? (raredisease.net)
  • Adult-onset Still's disease (AOSD) is a rare inflammatory condition that affects mostly the joints. (raredisease.net)
  • Even if you have lived with adult-onset Still's disease (AOSD) for years, new terms can come up often. (raredisease.net)
  • How Is Adult-Onset Still's Disease Treated? (raredisease.net)
  • In people with adult-onset Still's disease (AOSD), the immune system does not work the way it should. (raredisease.net)
  • Which of the following adult-onset Still's disease symptoms have you experienced? (raredisease.net)
  • Living with adult-onset Still's disease (AOSD) can be challenging and sometimes confusing. (raredisease.net)
  • Adult-onset Still's disease (AOSD) is a rare type of arthritis that can cause pain and joint damage. (raredisease.net)
  • Have you been diagnosed with adult-onset Still's disease? (raredisease.net)
  • Systemic juvenile idiopathic arthritis (sJIA), adult-onset Still's disease (AOSD), gout, and pseudogout: rheumatologist. (aetna.com)
  • Adult-Onset Still's Disease (AOSD) is a rare multisystemic autoinflammatory disorder with an unknown etiology, and the diagnosis is difficult due to various differential diagnoses. (journalrheumatology.or.id)
  • The patient is diagnosed with Adult-Onset Still's Disease with secondary amenorrhoea. (journalrheumatology.or.id)
  • Adult-onset Still's disease is a systemic inflammatory disease characterized by high spiking fever, arthritis, evanescent skin rash, leukocytosis, and hyperferritinemia. (elsevierpure.com)
  • however, multiple proinflammatory cytokines, such as IL-1β and IL-6, play important roles in the development of adult-onset Still's disease. (elsevierpure.com)
  • Serum concentrations of IL-6 well correlate with disease activity of adult-onset Still's disease, and blockade of IL-6 has been proven to be effective in active adult-onset Still's disease. (elsevierpure.com)
  • This review will focus on the recent understanding of the role of proinflammatory cytokines of adult-onset Still's disease and the efficacy of IL-6 inhibitors for the treatment of adult-onset Still's disease. (elsevierpure.com)
  • Kaneko, Y 2022, ' Interluekin-6 inhibitors for the treatment of adult-onset Still's disease ', Modern rheumatology , vol. 32, no. 1, pp. 12-15. (elsevierpure.com)
  • Introduction: The treatment of the patients with adult-onset Still's disease (AOSD) remains largely empirical and it is based on the administration of immunosuppressive drugs. (univaq.it)
  • Adult-Onset Still's Disease (AOSD) is a rare type of inflammatory disorder that affects adults. (thewomenshealthmagazine.com)
  • The U.S. Food and Drug Administration today approved Ilaris (canakinumab) injection for the treatment of Active Still's disease, including Adult-Onset Still's Disease (AOSD). (medjournal360.com)
  • Macrophage activation syndrome (MAS) is a known, life-threatening disorder that may develop in patients with rheumatic conditions, in particular Still's disease, and should be aggressively treated. (medjournal360.com)
  • Still's disease is a subset of juvenile idiopathic arthritis (JIA) that usually presents with intermittent fever, rash, and arthritis. (journalcra.com)
  • This disorder may be called adult-onset Still's disease when it occurs in patients over the age of 16. (journalcra.com)
  • 2010). We report a case of adult Still's disease with myocarditis after several years of being in remission. (journalcra.com)
  • We report a series of 3 Adult-onset Still's disease (AOSD)-like presentations in previously healthy females following vaccination with the ChAdOx1 nCoV-19 vaccine, and also compare them with similar cases reported in literature through a PubMed database search. (manipal.edu)
  • Adult-onset Still's disease (AOSD) is a rare inflammatory disorder that affects the entire body (systemic disease). (kathiawadtoday.in)
  • It is currently under phase 2 of clinical trials for the indication Adult-onset Still's disease. (kathiawadtoday.in)
  • It is registered for the indication Adult-onset Still's disease. (kathiawadtoday.in)
  • Racial/Ethnic variations in morbidity and mortality in Adult Onset Still's Disease: An analysis of national dataset. (cornell.edu)
  • AOSD may present in a similar manner to other inflammatory diseases and to autoimmune diseases, which must be ruled out before making the diagnosis. (wikipedia.org)
  • People with AOSD generally experience one of two patterns in the disease: a debilitating pattern of fevers, pain, and other systemic symptoms, or a somewhat less aggressive pattern, in which the main symptom is arthritis and chronic joint pain. (wikipedia.org)
  • Adult-onset Still Disease (AoSD) is a rare disorder without standardized diagnostic criteria. (nih.gov)
  • Keyword clustering covers the connection between AoSD and rheumatoid arthritis, disease diagnosis, classification, and risk factors. (nih.gov)
  • The research on AoSD focuses on the diagnosis and differential diagnosis of the disease. (nih.gov)
  • Introduction: Adult-onset Still`s disease (AOSD) is a type of systemic onset juvenile idiopathic arthritis. (mu-varna.bg)
  • AOSD is a heterogeneous and rare disease and the lack of serologic markers as a true gold standard makes diagnosis difficult. (ijord.com)
  • AOSD diagnosis is getting better because medical developments and therapeutic strategies from various studies have benefited from advances in understanding autoinflammatory and autoimmune diseases. (journalrheumatology.or.id)
  • Adult-onset Still`s disease (AOSD) was first described by Bywaters as a different clinical entity from Juvenile Rheumatoid Arthritis (Still`s Disease). (aai.org.tr)
  • AOSD is a rare and serious autoinflammatory disease of unknown origin. (medjournal360.com)
  • The overlapping features of AOSD and SJIA suggest this is a disease continuum rather than two separate diseases. (medjournal360.com)
  • The safety and efficacy of Ilaris for the treatment of patients with AOSD was established using comparable pharmacokinetic exposure and extrapolation of established efficacy of canakinumab in patients with SJIA, as well as the safety of canakinumab in patients with AOSD and other diseases. (medjournal360.com)
  • MATERIALS AND METHODS: Adult US hospitalized patients between 2009-13 from a nationwide inpatient sample (NIS) database with AOSD were identified using ICD-9 code 714.2. (cornell.edu)
  • As CVD is a major cause of death, it is important to ascertain its burden in people with early-onset type 2 diabetes, and to assess the age at which the risk of CVD begins to increase. (medicalxpress.com)
  • Over an average of 6 years of follow-up, 172,120 (40%) of people with early-onset T2D and 151,363 (23%) controls had either a heart attack, stroke or died from CVD. (medicalxpress.com)
  • Late-onset asthma develops later in patients' lives than early-onset asthma and tends to be more severe and harder to control with medications, these researchers said. (rxwiki.com)
  • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) is a condition that can affect the muscles, bones, and brain. (medlineplus.gov)
  • The risk for cancer in patients with nonalcoholic fatty liver disease (NAFLD) was highest among those with early-onset disease and declined at later ages of diagnosis, a matched cohort study found. (medpagetoday.com)
  • The cause of his learning disability was uncertain but a peroxisomal disorder, possibly infantile Refsum's disease, had been suspected because of early onset blindness although metabolic investigations in childhood had been nondiagnostic. (rcpe.ac.uk)
  • The observations that an early onset of pituitary insufficiency and female sex are predictors for a high risk for cerebrovascular mortality merit particular attention when treating this group of patients. (lu.se)
  • Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disease, the clinical manifestations of which are complex and easily misdiagnosed. (unboundmedicine.com)
  • The disease is considered a diagnosis of exclusion. (wikipedia.org)
  • As you and your caregivers adjust to a rare disease diagnosis, it is normal to be flooded with a wide range of emotions. (nih.gov)
  • GARD recognizes coping with a rare disease diagnosis is a continual process and your needs may change over time. (nih.gov)
  • National and regional resources are dedicated to improving access to care and decreasing the financial burdens of a rare disease diagnosis. (nih.gov)
  • Conclusions: This clinical case is an example of a patient with fever of unknown origin and contributes to the fact that Still`s disease is a diagnosis of exclusion but should be taken into account in the process of diagnosing and managing unexplained fever conditions. (mu-varna.bg)
  • In this large, population-based cohort study, being younger at the time of T2D diagnosis was associated with a higher relative risk of death and cardiovascular disease complications compared to those in the same group without diabetes," says co-author Dr. Seong Bin Hong from Inha University School of Medicine, South Korea. (medicalxpress.com)
  • What's more, effective health-care policies around screening, early diagnosis and treatment will help to combat the future rise of cardiovascular disease in this increasingly common young-onset, high-risk population. (medicalxpress.com)
  • Owing to the uncertainty about the underlying diagnosis, and because seizures do not appear to be a typical clinical feature in infantile Refsum's disease, 1,2 further investigation was indicated. (rcpe.ac.uk)
  • A, p.Gly843Asp, and c.2916delA, p.Gly973AlafsTer16, confirming the diagnosis of infantile Refsum's disease. (rcpe.ac.uk)
  • 6 The imaging changes in our patient were not as florid as reported in some childhood cases, perhaps associated with his long survival, but nevertheless contributed to establishing the diagnosis of infantile Refsum's disease prior to confirmation by genetic testing. (rcpe.ac.uk)
  • Another collaborative study revealed more than 1 in 3 people diagnosed with lupus during childhood have LN, finding 74% of people with childhood-onset lupus developed LN within 1-year of diagnosis. (lupus.org)
  • We used Ontario health administrative data to develop predictive models of disease burden at diagnosis in ulcerative colitis (UC) patients for future use in population-based studies of incident UC cohorts. (biomedcentral.com)
  • Through chart review, we characterized macroscopic colitis activity and extent at diagnosis in consecutive adult-onset UC patients diagnosed at The Ottawa Hospital between 2001 and 2012. (biomedcentral.com)
  • Ontario health administrative data may reasonably discriminate levels of total disease burden at diagnosis in adult-onset UC patients. (biomedcentral.com)
  • To address these limitations, we sought to develop predictive models of disease burden at diagnosis that would accurately discriminate between prognostically-distinct sub-populations of UC patients, using demographic, clinical and health care utilization parameters available in Ontario health administrative data. (biomedcentral.com)
  • Drees said that although routine screening isn't necessary for autoimmune conditions other than thyroid disease, "I think it's probably more about being very vigilant for symptoms that are early warnings of other autoimmune conditions. (medscape.com)
  • The condition may present with a sudden onset and symptoms may disappear and never occur again after treatment initiation, it may also turn into a chronic arthritis or, if affecting internal organs, may lead to severe complications. (mu-varna.bg)
  • Huntington's disease (HD) is a rare, neurodegenerative disease and its complex motor, cognitive and psychiatric symptoms exert a lifelong clinical burden on both patients and their families. (lu.se)
  • Disease burden of all individuals alive in Sweden was described during a single calendar year (2018), including the occurrence of key symptoms, treatments and hospitalizations. (lu.se)
  • abstract = "Background: Huntington{\textquoteright}s disease (HD) is a rare, neurodegenerative disease and its complex motor, cognitive and psychiatric symptoms exert a lifelong clinical burden on both patients and their families. (lu.se)
  • As the symptoms are similar to patients with feline chronic kidney disease, therapy is guided towards the same supportive care methods such as special diets, fluid therapy, medications to reduce nausea and to block absorption of phosphorus, along with other support options for feline kidney failure. (wisdompanel.com)
  • In the most common and severe form of Tay-Sachs disease, signs and symptoms start to show up at about 3 to 6 months of age. (sparrow.org)
  • If you or your child has any of the signs or symptoms that may indicate Tay-Sachs disease, or if you have concerns about your child's development, schedule an appointment with your health care provider. (sparrow.org)
  • To confirm that your child has Tay-Sachs disease, your health care provider will ask about symptoms and any family hereditary disorders, and also do a physical exam. (sparrow.org)
  • Prior to today's approval, patients had no FDA-approved treatments for their disease, which can include symptoms such as painful arthritis, fevers and rash," said Nikolay Nikolov, M.D., acting director of the Division of Rheumatology and Transplant Medicine in the FDA's Center for Drug Evaluation and Research. (medjournal360.com)
  • The symptoms are more intense, and the disease can have long-term effects on a child's growth, quality of life, and even how long they live. (lupus.org)
  • It has similar symptoms to systemic-onset juvenile idiopathic arthritis - fever, rash, and joint pain. (kathiawadtoday.in)
  • This report of an NIID case with both stroke-like onset and encephalitic attacks provides new information for NIID diagnoses, and a comprehensive classification of clinical characteristics. (unboundmedicine.com)
  • I think it has an important clinical message in terms of continuing to monitor adults with type 1 diabetes for late complications that may be associated with autoimmune conditions. (medscape.com)
  • All participants in the study had been diagnosed with clinically definite MS, having experienced onset (onset being the first recorded clinical manifestation) before April 15, 2018. (hcplive.com)
  • Please note: It is possible that disease signs similar to the ones caused by the PKD mutation could develop due to a different genetic or clinical cause. (wisdompanel.com)
  • Thus, in an infant who is homozygous for fructose 1-aldolase deficiency, fructose ingestion triggers a cascade of biochemical events that result in severe clinical disease. (medscape.com)
  • however, clinical assessment of disease activity is challenging. (nih.gov)
  • Taken together, the data suggest that this syndrome is a clinical expression of a self-limited primary immune-deficiency disease. (scienceopen.com)
  • Infantile Refsum's disease is a peroxisome biogenesis disorder that falls within the Zellweger disorder spectrum, sharing similar clinical and biochemical features but the clinical picture is less severe such that some patients survive to adulthood. (rcpe.ac.uk)
  • In 2020, that research resulted in a global call for pediatric clinical drug trials, biomarker research and greater cooperation across sectors to advance care and treatment for childhood-onset lupus. (lupus.org)
  • To promote vaccination in all settings, health-care providers should implement standing orders to identify adults recommended for hepatitis B vaccination and administer vaccination as part of routine clinical services, not require acknowledgment of an HBV infection risk factor for adults to receive vaccine, and use available reimbursement mechanisms to remove financial barriers to hepatitis B vaccination. (cdc.gov)
  • A major limitation of these data for the study of inflammatory bowel diseases is the absence of detailed clinical information relating to disease burden. (biomedcentral.com)
  • However, a significant limitation of using these data to study individuals with chronic diseases is the absence of prognostically-relevant clinical information relating to disease burden and disease course, which can confound observed associations and limit the ability to develop patient-specific management strategies. (biomedcentral.com)
  • It covers the Adult-Onset Still Disease pipeline drug profiles, including Adult-Onset Still Disease clinical trials and nonclinical stage products. (kathiawadtoday.in)
  • I'd like to welcome you to today's COCA call, Clinical Management of Critically Ill Adults with Corona Virus Disease 2019, COVID-19. (cdc.gov)
  • CHICAGO, Illinois - The risk of developing 1 or more additional autoimmune conditions rises with age at onset of type 1 diabetes , particularly among women who develop diabetes in adulthood, new research suggests. (medscape.com)
  • Physicians should be aware that a lot of autoimmune diseases can occur in people with type 1 diabetes. (medscape.com)
  • In the new study, people with type 1 diabetes onset after age 40 years had twice the risk for 1 or more autoimmune conditions, such as thyroid disease, pernicious anemia , vitiligo, and gastrointestinal autoimmune conditions, as those diagnosed with type 1 diabetes in childhood. (medscape.com)
  • The mean age of type 1 diabetes onset was 20.1 years for those without other autoimmune conditions compared with 23.3 years for those with 1 or more other autoimmune conditions ( P = .0003). (medscape.com)
  • Moreover, the mean age of type 1 diabetes onset rose with the number of subsequent autoimmune diagnoses, up to 32.3 years for those with 4 or more autoimmune conditions. (medscape.com)
  • The median age of onset of type 1 diabetes was 18 years, while that of the other autoimmune conditions ranged from 24 to 50 years. (medscape.com)
  • Ilaris (canakinumab) injectable has been authorized by the US Food and Drug Administration (FDA) for the treatment of adult patients with active Still disease, a rare autoimmune condition with no known cause. (kathiawadtoday.in)
  • Patients with other autoimmune diseases were excluded. (cornell.edu)
  • When hypogonadism is specifically associated with aging among adult males, adult-onset hypogonadism (AOH) is usually named late-onset hypogonadism (LOH). (frontiersin.org)
  • RxWiki News) Adults who develop late-onset asthma may face a raised risk of heart disease and stroke , a new study found. (rxwiki.com)
  • Looking at 1,269 adults who were 47 years old on average, the researchers behind this new study found that those who developed late-onset asthma were 57 percent more likely than those without asthma to have a heart-related health event, such as a heart attack or stroke, during the study period. (rxwiki.com)
  • Study participants who had late-onset asthma were also more likely to be women and have a higher body mass index (BMI), these researchers noted. (rxwiki.com)
  • Late-onset asthma is often at least partially caused by environmental factors like air pollution, which has also been linked to heart disease, according to the study authors. (rxwiki.com)
  • The study authors noted that patients who develop late-onset asthma may be able to help protect their hearts by keeping a healthy body weight, exercising and eating a healthy diet. (rxwiki.com)
  • Rarely, some adults have a late-onset form of Tay-Sachs disease which is often less severe than forms that begin in childhood. (sparrow.org)
  • There are three forms of Tay-Sachs disease: infantile, juvenile and late onset/adult. (sparrow.org)
  • Late onset white matter disease in peroxisome biogenesis disorder. (rcpe.ac.uk)
  • The iAge predicts multimorbidity - the accumulation of multiple chronic inflammatory diseases, longevity, and immunosenescence - that is, the age-related deterioration and improper function of the immune system. (medicalnewstoday.com)
  • Scientists have generated an artificial intelligence algorithm called the "inflammatory clock of aging (iAge)" that can predict age-related inflammatory diseases and gauge the overall health of the immune system. (medicalnewstoday.com)
  • Multimorbidity refers to the accumulation of multiple chronic inflammatory diseases. (medicalnewstoday.com)
  • Early pathogenesis in the adult-onset neurodegenerative disease amyotrophic lateral sclerosis. (umassmed.edu)
  • Systemic chronic inflammation has common associations with many age-related diseases, including heart disease, cancer, and neurodegenerative diseases such as Alzheimer's. (medicalnewstoday.com)
  • These included monocyclic systemic disease, polycyclic systemic disease, chronic articular monocyclic systemic disease, and chronic articular polycyclic systemic disease. (wikipedia.org)
  • People with chronic articular disease and polyarticular disease were at higher risk to develop disabling arthritis. (wikipedia.org)
  • Asthma is a chronic lung disease that that affects your airways, which are tubes that carry air in and out of your lungs. (rxwiki.com)
  • Chronic gut inflammation may initiate processes in the body that give rise to Parkinson disease, according to a study published in Free Neuropathology . (pharmacytimes.com)
  • A new biological clock relies on immune-related biomarkers to identify patterns and chronic inflammatory disease risk and immune system well-being. (medicalnewstoday.com)
  • In adults, ongoing HBV transmission occurs primarily among unvaccinated persons with behavioral risks for HBV transmission (e.g., heterosexuals with multiple sex partners, injection-drug users [IDUs], and men who have sex with men [MSM]) and among household contacts and sex partners of persons with chronic HBV infection. (cdc.gov)
  • In 2008, of the 57 million deaths that occurred globally, 36 million - almost two thirds - were due to NCDs, comprising mainly cardiovascular diseases, cancers, diabetes and chronic lung diseases. (who.int)
  • Compared to younger workers, older workers have a different risk profile, with more co-existing chronic disease and changes in physical and emotional capacities. (cdc.gov)
  • Age and Health-Chronic diseases affecting the cardiovascular and musculoskeletal systems inevitably rise as the workforce ages. (cdc.gov)
  • Bariatric surgery is an effective treatment for obesity, but it is unknown if outcomes differ between adults with early- versus adult-onset obesity. (diabetesjournals.org)
  • Nearly 60% of children with lupus develop LN, resulting in higher mortality rates in childhood versus adult-onset lupus. (lupus.org)
  • Additional features that rarely occur in IBMPFD include a severe and progressive muscular disease called amyotrophic lateral sclerosis and progressive problems with movement and balance ( Parkinson's disease ). (medlineplus.gov)
  • ABSTRACT: The CASPIAN Study aims to implement a school-based surveillance system for prevention of noncommunicable diseases from childhood in the Islamic Republic of Iran. (who.int)
  • A randomized, multicenter trial reported better outcomes in a group of 12 patients treated with anakinra than in a group of 10 patients taking other disease-modifying antirheumatic drugs. (wikipedia.org)
  • Participants were followed for CVD outcomes (death from any cause, death from CVD, coronary heart disease, heart attack , stroke, hospitalization for heart failure) or until 2019. (medicalxpress.com)
  • The study, " Long-term Cognitive Outcomes in Patients With Pediatric Onset vs Adult-Onset Multiple Sclerosis ," was published by JAMA Neurology alongside the accompanying editorial. (hcplive.com)
  • The study also found children of Black race were more likely to experience worse short-term outcomes related to the kidney disease. (lupus.org)
  • Improving disease outcomes is imperative, and LFA's partnership with CARRA is helping uncover new insights and answers. (lupus.org)
  • Crispin JC, Martinez-Banos D, Alcocer-Varela J. Adult-onset Still disease as the cause of fever of unknown origin. (ijord.com)
  • Our first patient had a high spiking bi-quotidian type of fever with myalgia, sore throat, and arthritis with onset 10-day post-vaccination, with laboratory features of hyper inflammation responding to only naproxen. (manipal.edu)
  • Centers for Disease Control and Prevention. (cdc.gov)
  • I'm Commander Ibad Khan and I'm representing the Clinician Outreach and Communication Activity, COCA with the emergency risk communication branch at the Centers for Disease Control and Prevention. (cdc.gov)
  • The Centers for Disease Control and Prevention (CDC) cannot attest to the accuracy of a non-federal website. (cdc.gov)
  • DelveInsight's, "Adult-Onset Still Disease Pipeline Insight 2023" report provides comprehensive insights about 10+ companies and 10+ pipeline drugs in the Adult-Onset Still Disease pipeline landscape. (kathiawadtoday.in)
  • Prognosis is usually favorable but manifestations of the disease affecting the lungs, heart, or kidneys may occasionally cause severe life-threatening complications. (wikipedia.org)
  • When onset occurs before the age of 18, multiple sclerosis causes more severe cognitive impairment than in equivalent adult-onset cases. (hcplive.com)
  • A 20-year-old male with severe learning disability was referred to the neurology clinic following new onset of tonic-clonic seizures. (rcpe.ac.uk)
  • Bariatric surgery is currently the most effective treatment to achieve substantial and long-term weight loss in patients with severe obesity, and it also has beneficial effects on obesity-associated comorbidities such as type 2 diabetes, cardiovascular disease, and cancer ( 1 - 6 ). (diabetesjournals.org)
  • In children, lupus tends to be more aggressive and severe than it is in adults. (lupus.org)
  • The second patient, with onset 3-week post-vaccination, had a more severe illness, requiring high dose immunosuppression. (manipal.edu)
  • In our third case, the onset of illness was slightly delayed i.e., 3-month post-vaccination, but she had the most severe disease with macrophage activation syndrome at presentation requiring immunosuppression and biologicals. (manipal.edu)
  • The logistic model of total disease burden (severe and extensive colitis vs. all other phenotypes) showed moderate discriminatory capacity (optimism-corrected c-statistic value 0.729). (biomedcentral.com)
  • Exposure to selenium hexafluoride produces severe respiratory problems and individuals with pre-existing breathing difficulties or skin disease may be more susceptible to its effects. (cdc.gov)
  • Adult-onset immunodeficiency caused by neutralizing anti-interferon-γ autoantibodies, in addition to HIV infection, can lead to disseminated nontuberculous mycobacterial infection. (cdc.gov)
  • Recent studies have described disseminated NTM infection in patients in Asia with adult-onset immunodeficiency resulting from neutralizing anti-IFN-γ autoantibodies ( 5 - 7 ). (cdc.gov)
  • In settings in which a high proportion of adults have risks for HBV infection (e.g., sexually transmitted disease/human immunodeficiency virus testing and treatment facilities, drug-abuse treatment and prevention settings, health-care settings targeting services to IDUs, health-care settings targeting services to MSM, and correctional facilities), ACIP recommends universal hepatitis B vaccination for all unvaccinated adults. (cdc.gov)
  • And Dr. Alhazzani is the primary author of the Surviving Sepsis Campaign: rapid guidelines on the management of critically ill adults with Corona virus disease 2019. (cdc.gov)
  • The results of the study are consistent with several large-scale epidemiological studies that show an association between Parkinson and inflammatory bowel diseases, such as ulcerative colitis and Crohn disease. (pharmacytimes.com)
  • Inflammatory bowel diseases (IBD), comprising ulcerative colitis (UC) and Crohn's disease (CD), afflict more than 0.3% of the population in developed countries and a growing number of persons in newly industrialized countries in Africa, Asia, and South America, contributing to an increasing worldwide burden of this disease [ 1 ]. (biomedcentral.com)
  • In individuals with ulcerative colitis (UC), anatomic colitis extent and severity of colitis activity have been shown to be important predictors of disease prognosis and treatment response. (biomedcentral.com)
  • Dr. Wilkins is co-author of a paper appearing in the January 2011 issue of CDC's journal, Emerging Infectious Diseases. (cdc.gov)
  • This has implications for the expected demands for testing services for other adult-onset genetic disorders. (nih.gov)
  • An autosomal dominant point mutation in the PKD1 gene has been identified as the most common genetic mutation for the disease. (wisdompanel.com)
  • Our results in mice, together with the genetic and epidemiological data by others in humans, make a strong case for further exploring systemic immune pathways for future therapies and biomarkers for [Parkinson disease]," said Markus Britschgi, PhD, in the press release. (pharmacytimes.com)
  • Tay-Sachs disease is a rare genetic disorder passed from parents to child. (sparrow.org)
  • If you have a family history of Tay-Sachs disease or if you're a member of a high-risk group and plan to have children, health care providers strongly recommend genetic testing and genetic counseling. (sparrow.org)
  • The genetic change that causes Tay-Sachs disease results in a deficiency of the enzyme beta-hexosaminidase A. This enzyme is required to break down the fatty substance GM2 ganglioside. (sparrow.org)
  • Onset occurs mainly during infancy or adolescence (range: age 1-31 years) and in rare cases as late as age 60 years. (nih.gov)
  • And autoinfection occurs when a person carrying an adult Taenia solium tapeworm and infects himself, usually through the fecal-oral transmission route. (cdc.gov)
  • Findings from more than 1100 adults with type 1 diabetes were presented March 19 here at ENDO 2018: The Endocrine Society Annual Meeting by Yicheng Bao, a medical student at the University of Missouri-Kansas City (UMKC) School of Medicine. (medscape.com)
  • The finding is particularly important in light of the recent UK Biobank study that showed type 1 diabetes onset is equally likely to occur after age 30 years as prior, but is often misdiagnosed as type 2 diabetes in adults. (medscape.com)
  • Thyroid disease is commonly followed and screened over a lifetime [in people with type 1 diabetes], but some of these other [conditions] may present very subtly. (medscape.com)
  • The study included 1167 adults with type 1 diabetes seen at the Washington University Diabetes Center between 2011 and 2017. (medscape.com)
  • The mean age of participants was 46.9 years and of type 1 diabetes onset was 21.3 years (range 1-78 years). (medscape.com)
  • Patients with multiple sclerosis (MS) who experienced pediatric-onset (POMS) before the age of 18 face greater cognitive decline than patients who experienced onset as adults (AOMS), according to a new study. (hcplive.com)
  • VEXAS syndrome is a disease that leads to inflammatory and hematologic (blood) manifestations. (nih.gov)
  • The lack of evidence of a humoral antibody response, remission induced by measles which modifies cell-mediated immunity, the therapeutic benefits of steroids and cyclophosphamide which also abate cell-mediated responses, and the occurrence of this syndrome in Hodgkin's disease support this hypothesis. (scienceopen.com)
  • Changing etiologies of unexplained adult nephrotic syndrome: a comparison of renal biopsy findings from 1976-1979 and 1995-1997. (scienceopen.com)
  • Data compiled during the 1970s and early 1980s indicated that during these periods, membranous nephropathy was the most common cause of unexplained nephrotic syndrome in adults, followed in order of frequency by minimal-change nephropathy and focal segmental glomerulosclerosis (FSGS). (scienceopen.com)
  • Even children and young adults are diagnosed with NAFLD, putting them at increased mortality risk . (medpagetoday.com)
  • About half of all adults with IBMPFD develop a disorder called Paget disease of bone . (medlineplus.gov)
  • This disease is autosomal dominant meaning that one copy of the mutation is needed for disease signs to occur. (wisdompanel.com)
  • Studies by other groups suggest that this process increases the risk of developing Parkinson disease, and a similar process may occur in the colons of individuals with inflammatory bowel diseases. (pharmacytimes.com)
  • One-third of liver disease-related deaths occur in people who had been diagnosed with NAFLD before the age of 30, they noted. (medpagetoday.com)
  • Extra-articular flares can occur several years after disease onset (Javier Alberto Cavallasca et al. (journalcra.com)
  • The prevalence of noncommunicable diseases (NCDs) is rising rapidly and they are no longer restricted to highly industrialized countries. (who.int)
  • Noncommunicable diseases (NCDs) are currently the leading global cause of death. (who.int)
  • The action plan for the global strategy for the prevention and control of noncommunicable diseases addresses key components: surveillance, prevention, and health care. (who.int)
  • noted the wide support expressed by Member States and other stakeholders around global voluntary targets considered so far including those relating to raised blood pressure, tobacco use, salt/sodium and physical inactivity, and indicated support from Member States and other stakeholders for the development of targets relating to obesity, fat intake, alcohol, cholesterol and health system responses such as availability of essential medicines for noncommunicable diseases. (who.int)
  • Being diagnosed with a rare disease can place a significant burden on a patient and their caregivers. (nih.gov)
  • The investigation has the potential to increase common knowledge of pediatric-onset MS and, as a result, increase resources available to that patient population. (hcplive.com)
  • The MR imaging changes seen in our patient were those typically reported in infantile Refsum's disease, namely symmetrical high signal change in periventricular white matter with sparing of subcortical U fibres and pronounced central cerebellar demyelination. (rcpe.ac.uk)
  • Men and women who are diagnosed with type 2 diabetes (T2D) aged 40 or younger are far more likely to develop cardiovascular disease (CVD) and die prematurely than those under 40 in the general population, according to new research to be presented at this year's European Association for the Study of Diabetes (EASD) Annual Meeting in Stockholm, Sweden (19-23 Sept). (medicalxpress.com)
  • Cardiovascular disease ( CVD ) is any disease involving the heart or blood vessels . (wikipedia.org)
  • [3] Most cardiovascular disease affects older adults. (wikipedia.org)
  • Scholars@Duke publication: Cardiovascular Disease Among Survivors of Adult-Onset Cancer: A Community-Based Retrospective Cohort Study. (duke.edu)
  • The association between bariatric surgery and cardiovascular disease was similar in the subgroups (interaction P = 0.674). (diabetesjournals.org)
  • HDLS and POLD are now considered to be part of the same disease spectrum, which researchers have recommended calling ALSP. (medlineplus.gov)
  • The researchers adjusted for a range of factors that could influence the results including age, sex, and previous history of CVD including heart attack, unstable angina, heart failure, stroke and peripheral artery disease. (medicalxpress.com)
  • The researchers found that risk of CVD complications was strongly linked to age and adults diagnosed with T2D aged 40 or younger had the highest relative risk for most complications compared with the general population. (medicalxpress.com)
  • This study will look at the blood of people who have sickle cell disease and venous thromboembolism, as well as healthy volunteers, to help researchers develop better treatments to prevent blood clots. (nih.gov)
  • For their study, the researchers initially identified 46,100 participants with new-onset NAFLD enrolled in the Chinese Kailuan Cohort Study from 2006 to 2021, matching 31,848 of them by age and sex with an equal number of controls. (medpagetoday.com)
  • Conventional and advanced MR imaging in infantile Refsum's disease. (rcpe.ac.uk)
  • The Lupus Foundation of America (LFA) is proud to extend its continued partnership with the Childhood Arthritis and Rheumatology Research Alliance (CARRA), providing a new round of funding for ongoing research into childhood-onset lupus. (lupus.org)
  • Approximately 20% of individuals with lupus develop the disease in childhood. (lupus.org)
  • LFA's 2021 renewed one-year grant will ensure the critical research momentum into childhood-onset lupus continues. (lupus.org)
  • In 2017, LFA provided a three-year grant to support CARRA's ongoing research into childhood-onset lupus. (lupus.org)
  • CARRA'S LFA-funded research has also helped shed light on the significant connection between childhood-onset lupus and kidney health risk. (lupus.org)
  • We linked this cohort to Ontario health administrative data to test the capacity of administrative variables to discriminate different levels of disease activity, disease extent and the disease burden (a composite of disease extent and activity). (biomedcentral.com)
  • Our models should be externally validated before their widespread application in future population-based studies of incident UC cohorts to adjust for the confounding effects of differences in disease burden. (biomedcentral.com)
  • The mounting burden, complexity and costs of IBD care mandates intensive real-world investigation regarding disease epidemiology, prognostic factors and treatment effectiveness, in order to optimally target treatment strategies and health care resources. (biomedcentral.com)
  • The combined burden of these diseases is rapidly increasing in lower-income countries. (who.int)
  • Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a neurological condition characterized by changes to certain areas of the brain. (medlineplus.gov)
  • For autosomal dominant disorders, cats with one or two copies of the disease variant are at risk of developing the condition. (wisdompanel.com)
  • Polycystic Kidney Disease (PKD), also named autosomal dominant PKD, is characterized by variously sized, fluid-filled cysts in the renal cortex and medulla with hepatic and pancreatic cysts also possible. (wisdompanel.com)
  • Understanding gut inflammation may hold clues to mitigating Parkinson's onset [news release]. (pharmacytimes.com)
  • Body weight, energy intake, and type 2 diabetes status were examined over 10 years, and incidence of cardiovascular and microvascular disease was determined over up to 26 years using data from health registers. (diabetesjournals.org)
  • As second-line therapy, conventional synthetic disease modifying anti-rheumatic drugs (csDMARDs) are used when GCs do not fully control the disease and/or to reduce the dosage of concomitant GCs. (univaq.it)
  • [3] Rheumatic heart disease may follow untreated strep throat . (wikipedia.org)
  • [3] Treating people who have strep throat with antibiotics can decrease the risk of rheumatic heart disease. (wikipedia.org)
  • To assess attitudes toward, and projected utilization of, direct mutation testing by individuals at risk for Huntington disease (HD). (nih.gov)
  • The major factor that has limited acceptance of predictive testing for this group is the concern about receiving an increased-risk result in the absence of any therapy to alter progression of the disease. (nih.gov)
  • Some people who have sickle cell disease are at greater risk for developing abnormal blood clots (venous thromboembolism). (nih.gov)
  • Those with a younger age at onset could be expected to be at increased risk for cognitive problems, but older pediatric patients have been found to have higher rates of impairment in some reports," the editorial read. (hcplive.com)
  • At risk cats are highly likely to show signs of this disease in their lifetime. (wisdompanel.com)
  • Use of cats with one or two copies of the disease mutation is not recommended, as there is a risk that the resulting litter will contain affected kittens. (wisdompanel.com)
  • While multiple prior studies have linked NAFLD with an increased risk for cancer, as well as liver decompensation , it's been unclear whether the age of NAFLD onset factored into the degree of cancer risk. (medpagetoday.com)
  • In their study, Shi and colleagues found that 17.83% (95% CI 4.92-29.86) of the cancer risk among NAFLD patients under age 45 could be attributed to their fatty liver disease, a number that declined with age. (medpagetoday.com)
  • METHODS: A retrospective cohort study design was used to describe the magnitude of CVD risk in 36,232 ≥ 2-year survivors of adult-onset cancer compared with matched (age, sex, and residential ZIP code) noncancer controls (n = 73,545) within a large integrated managed care organization. (duke.edu)
  • This report, the second of a two-part statement from the Advisory Committee on Immunization Practices (ACIP), provides updated recommendations to increase hepatitis B vaccination of adults at risk for HBV infection. (cdc.gov)
  • In other primary care and specialty medical settings in which adults at risk for HBV infection receive care, health-care providers should inform all patients about the health benefits of vaccination, including risks for HBV infection and persons for whom vaccination is recommended, and vaccinate adults who report risks for HBV infection and any adults requesting protection from HBV infection. (cdc.gov)
  • Objectives: We evaluated pesticide and other occupational exposures as risk factors for adult-onset asthma. (cdc.gov)
  • The evidence on the mechanisms by which smoking causes disease indicates that there is no risk-free level of exposure to tobacco smoke. (cdc.gov)
  • In general the age effect is larger, but for some conditions, for example knee disease in plumbers, work is the dominant risk factor. (cdc.gov)
  • However, onset in young adults is becoming more common globally and is typically a more aggressive form that leads to earlier development of complications and higher rates of hospitalizations. (medicalxpress.com)
  • Other complications of Paget disease of bone depend on which bones are affected. (medlineplus.gov)
  • [ 1 ] beginning with a summary of key general considerations, proceeding to a review of the main neurologic complications that may arise in pregnant people who were previously free of neurologic disease, and concluding with a discussion of individual neurologic disorders in the context of pregnancy. (medscape.com)
  • Participants in this study must be between 18 and 80 years old and be either a healthy volunteer or have sickle cell disease or trait. (nih.gov)
  • Participants were also between the ages 18-55, and each had an individual disease duration of less than or equal to 30 years. (hcplive.com)
  • In 1997 the World Health Organization (WHO) announced that NCD constituted a more significant contribution to ill health throughout the world than did infectious diseases. (who.int)
  • Relevance for other adult-onset disorders. (nih.gov)
  • The NHLBI leads or sponsors studies for patients who have heart, lung, blood, or sleep related diseases or disorders. (nih.gov)
  • 1- , 5 The treatment of these diseases includes non-steroidal anti-inflammatory drugs (NSAIDs), systemic corticosteroids and, in resistant cases, methotrexate (MTX), cyclophosphamide, sulfasalazine, and ciclosporin A 6- , 8 have been used. (bmj.com)
  • Bringing awareness to rare diseases can lead to funding, research, and treatment. (nih.gov)
  • There is no treatment specific for feline polycystic kidney disease. (wisdompanel.com)
  • Although most patients with vasculitis achieve remission with treatment, the majority of patients experience one or more recurrences of the disease. (nih.gov)
  • The treatment benefits of bariatric surgery in adults are similar regardless of obesity status at 20 years of age. (diabetesjournals.org)
  • Further Understanding Lupus Nephritis Treatment in Children: Additional funding will build onto the initiative's lupus nephritis (LN, lupus-related kidney disease) research from the previous years. (lupus.org)
  • DelveInsight's Adult-Onset Still Disease Pipeline report depicts a robust space with 10+ active players working to develop 10+ pipeline therapies for Adult-Onset Still Disease treatment. (kathiawadtoday.in)
  • The disease typically presents with joint pain, high fevers, a salmon-pink macular or maculopapular rash, enlargement of the liver and spleen, swollen lymph nodes, and a neutrophil-predominant increased white blood cell count in the blood. (wikipedia.org)
  • About 30 million people in the U.S. are affected by a rare disease. (nih.gov)
  • This study aims to compare fluid and tissue samples from the nose and lungs of healthy adults with people who have a lung disease. (nih.gov)
  • This study investigates ways to prevent blood clotting in people with sickle cell disease. (nih.gov)
  • Scientists are studying the blood of people with sickle cell disease and comparing it with the blood of people without sickle cell disease over 2 years. (nih.gov)
  • Area covered: Although nonsteroidal anti-inflammatory drugs (NSAIDs) are employed during the diagnostic phase, glucocorticoids (GCs) are the first-line therapy, administered at the beginning of the disease. (univaq.it)
  • So, just to give some background in some large studies, the median incubation period from the time of infection to illness onset is approximately four to five days, but a wide range. (cdc.gov)
  • Cysticercosis is a leading cause of adult onset epilepsy, and can sometimes be fatal. (cdc.gov)