Hemorrhagic Fever with Renal Syndrome
Hantaan virus
Hantavirus
Puumala virus
Hantavirus Infections
Seoul virus
Holoprosencephaly
Hantavirus Pulmonary Syndrome
Hemorrhagic Fevers, Viral
Disease Reservoirs
Arvicolinae
Montenegro
Branchial Region
Rodent Diseases
Telencephalon
Dental Pulp Calcification
Muridae
Sin Nombre virus
Nucleocapsid Proteins
Down Syndrome
Metabolic Syndrome X
Hemoptysis
Climate
Disease Vectors
Seasons
Vero Cells
Cercopithecus aethiops
Branchio-Oto-Renal Syndrome
Encyclopedias as Topic
Protein Tyrosine Phosphatases
Ear, External
Ear
Intracellular Signaling Peptides and Proteins
Inner ear and kidney anomalies caused by IAP insertion in an intron of the Eya1 gene in a mouse model of BOR syndrome. (1/36)
A spontaneous mutation causing deafness and circling behavior was discovered in a C3H/HeJ colony of mice at the Jackson Laboratory. Pathological analysis of mutant mice revealed gross morphological abnormalities of the inner ear, and also dysmorphic or missing kidneys. The deafness and abnormal behavior were shown to be inherited as an autosomal recessive trait and mapped to mouse chromosome 1 near the position of the Eya1 gene. The human homolog of this gene, EYA1, has been shown to underly branchio-oto-renal (BOR) syndrome, an autosomal dominant disorder characterized by hearing loss with associated branchial and renal anomalies. Molecular analysis of the Eya1 gene in mutant mice revealed the insertion of an intracisternal A particle (IAP) element in intron 7. The presence of the IAP insertion was associated with reduced expression of the normal Eya1 message and formation of additional aberrant transcripts. The hypomorphic nature of the mutation may explain its recessive inheritance, if protein levels in homozygotes, but not heterozygotes, are below a critical threshold needed for normal developmental function. The new mouse mutation is designated Eya1(bor) to denote its similarity to human BOR syndrome, and will provide a valuable model for studying mutant gene expression and etiology. (+info)Human NDUFB9 gene: genomic organization and a possible candidate gene associated with deafness disorder mapped to chromosome 8q13. (2/36)
Human NADH dehydrogenase (ubiquinone) 1beta-subcomplex, 9 (NDUFB9) is a nuclear encoded mitochondrial protein with the respiratory electron transport chain. It has been physically mapped to a 1-Mb deletion at chromosome 8q13 which also contains the gene for branchio-oto-renal (BOR) syndrome. BOR syndrome is characterized by branchial and renal abnormalities with hearing impairment. Since several hereditary deafness disorders have been associated with mitochondrial mutations, NDUFB9 was considered a candidate gene for BOR syndrome. Recently, EYA1 gene has been identified in the region which underlies the BOR syndrome but majority of BOR families did not show mutations in the EYA1 gene. Here we have determined the genomic structure of the NDUFB9 gene, including the nucleotide sequence, organization and the boundaries of the four coding exons. PCR primers were designed from the adjacent intron sequences that allow amplification of the four exons that encode the complete open reading frame. To identify whether mutations in NDUFB9 are involved in causing the BOR syndrome, we screened 9 BOR families which did not show mutations in the EYA1 gene by heteroduplex analysis; however, no mutations were found. (+info)Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies. (3/36)
The Drosophila eyes absent gene ( eya ) is involved in the formation of compound eyes. Flies with loss-of-function mutations of this gene develop no eyes and form the ectopic eye in the antennae and the ventral zone of the head on target expression. A highly conserved homo-logous gene in various invertebrates and vertebrates has been shown to function in the formation of the eye. In contrast, a human homologue, EYA1, has been identified by positional cloning as a candidate gene for branchio-oto-renal (BOR) syndrome, in which phenotypic manifestations are restricted to the areas of branchial arch, ear and kidney, with usually no anomalies in the eye. We have examined genomic DNA isolated from patients with various types of developmental eye anomaly for EYA1 mutations by the use of polymerase chain reaction-single-strand conformation polymorphism and sequencing. We identified three novel missense mutations in patients who had con-genital cataracts and ocular anterior segment anomalies. One of the patients had clinical features of BOR syndrome as well. This result implies that the human EYA1 gene is also involved in eye morphogenesis, and that a wide variety of clinical manifestations may be caused by EYA1 mutations. (+info)Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications. (4/36)
Branchio-oto-renal (BOR) syndrome is characterized by ear malformations, cervical fistulas, hearing loss, and renal anomalies. It is an autosomal dominant disorder with variable clinical manifestations. The most common features of BOR syndrome are branchial, hearing, and renal anomalies. However, many affected subjects have been observed with branchial-cleft anomalies and hearing loss but without renal anomalies, a condition called "branchio-otic" (BO) syndrome. It is logical to question whether the BOR and BO syndromes are allelic or whether they represent distinct genetic entities. We identified a very large extended family whose members had branchial and hearing anomalies associated with commissural lip pits that segregated in an autosomal dominant fashion. Using a genomewide search strategy, we identified genetic linkage, with a maximum LOD score of 4.81 at recombination fraction 0, between the BO phenotype and polymorphic marker D1S2757 in the genetic region of chromosome 1q31. This is the first report of linkage for a second gene associated with BOR syndrome. The findings have important clinical implications and will provide insight into the genetic basis of BOR syndrome. (+info)Multiple intracranial aneurysms associated with branchio-oto-dysplasia. (5/36)
Branchio-oto-dysplasia is characterized by abnormalities of embryonic branchial arch system and deafness inherited as autosomal dominant with variable gene expression. We present a rare case of multiple intracranial aneurysms associated with branchio-oto-dysplasia. A 40-yr-old man with severe headache presented as spontaneous subarachnoid hemorrhage on brain computed tomographic scan. The patient also manifested clinical features of branchio-oto-dysplasia and right hemifacial hypoplasia. Carotid angiogram confirmed an aneurysm in the anterior communicating artery. Intraoperative findings demonstrated multiple aneurysms in the anterior communicating artery and in the left posterior communicating artery, which were clipped successfully. Postoperative course was uneventful. This condition has not been reported previously. We also reviewed literatures to discuss whether the intracranial aneurysm was as a coincidental finding or a part of this malformation. (+info)Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome. (6/36)
Eya1 is a critical gene for mammalian organogenesis. Mutations in human EYA1 cause branchio-oto-renal (BOR) syndrome, an autosomal dominant disorder characterized by varying combinations of branchial, otic and renal anomalies, whereas deletion of mouse Eya1 results in the absence of multiple organ formation. Eya1 and other Eya gene products share a highly conserved 271 amino acid Eya domain that is required for protein-protein interaction. Recently, several point mutations that result in single amino acid substitutions in the conserved Eya domain region of EYA1 have been identified in BOR patients; however, the molecular and developmental basis of organ defects that occurred in BOR syndrome is unclear. To understand how these point mutations cause disease, we have analyzed the functional importance of these Eya domain missense mutations with respect to protein complex formation and cellular localization. We have demonstrated that these point mutations do not alter protein localization. However, four mutations are crucial for protein-protein interactions in both yeast and mammalian cells. Our results provide insights into the molecular mechanisms of organ defects detected in human syndromes. (+info)A family with the branchio-oto-renal syndrome: clinical and genetic correlations. (7/36)
BACKGROUND: The branchio-oto-renal (BOR) syndrome is an autosomal dominant disease characterized by hearing loss of early onset, preauricular pits, branchial clefts, and early progressive chronic renal failure in up to 40% of family affected members. So far, it has not received due attention in the adult European nephrology literature and because of the combination of deafness with chronic renal failure it may be confused with the Alport syndrome. The BOR syndrome is caused by mutations in the EYA1 gene that maps on chromosome 8q13.3. METHODS: A three-generation, 20-member large BOR Greek-Cypriot family has been studied and followed up clinically over a 27-year period. The findings in four individuals who developed early onset renal failure are described in detail. Genetic DNA linkage studies have also been carried out. RESULTS: Of the 15 family members at risk, 14 were tested with DNA linkage analysis. Ten members were genetically affected and four were normal. All 10 affected members developed early-onset deafness. Some had different ear lobe abnormalities. Nine affected members had preauricular pits. In some of the patients these pits were deep and prominent while in others they were minor and superficial. Eight affected members had early-onset branchial clefts that needed early corrective surgery without the correct familial diagnosis ever being made. End-stage renal disease (ESRD) developed in four members at ages 36, 14, 17, and 17 with minimal proteinuria, if any. This was due to unilateral renal agenesis with contralateral hypodysplasia or bilateral, severe renal hypodysplasia. CONCLUSION: The BOR syndrome is an infrequent but well-described entity that combines early-onset renal failure and deafness together with branchial clefts and preauricular pits. Renal agenesis and dysplasia are the causes of ESRD in these individuals. Other renal abnormalities include bifid kidneys with double ureters, vesico-ureteric reflux and pelvi-ureteric stenoses. The BOR syndrome should be included in the differential diagnosis of deafness and chronic renal failure in childhood and adolescence. (+info)Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome. (8/36)
Branchio-Oto-Renal (BOR) syndrome is transmitted as an autosomal dominant disorder, affects an estimated 2% of profoundly deaf children, and is caused by mutations in the human EYA1 gene. However, in up to half of the reported cases, EYA1 mutation screening is negative. This finding has been taken as evidence of genetic heterogeneity. Mutation screening of the coding region of EYA1 in a panel of families linked to chromosome 8 was conducted using SSCP and direct sequencing. Only one point mutation in five probands was detected. However, complex rearrangements, such as inversions or large deletions, were discovered in the other four patients using Southern blot analysis. These data suggest that more complex rearrangements may remain undetected in EYA1 since SSCP and sequencing were commonly used to detect mutations in this gene. (+info)Hemorrhagic Fever with Renal Syndrome (HFRS) is a group of clinically similar diseases caused by several distinct but related orthohantaviruses. The viruses are primarily transmitted to humans through inhalation of aerosols contaminated with excreta of infected rodents.
The clinical presentation of HFRS includes four phases: febrile, hypotensive, oliguric (decreased urine output), and polyuric (increased urine output). The febrile phase is characterized by fever, headache, myalgia, and abdominal pain. In the hypotensive phase, patients may experience a sudden drop in blood pressure, shock, and acute kidney injury leading to oliguria. The oliguric phase can last for days to weeks, followed by a polyuric phase where urine output increases significantly.
Additional symptoms of HFRS may include nausea, vomiting, conjunctival injection (redness), photophobia (sensitivity to light), and petechial rash (small red or purple spots on the skin caused by bleeding under the skin). In severe cases, HFRS can lead to acute renal failure, hypovolemic shock, and even death.
The severity of HFRS varies depending on the specific virus causing the infection. The most severe form of HFRS is caused by the Hantaaan virus, which has a mortality rate of up to 15%. Other viruses that can cause HFRS include Dobrava-Belgrade, Seoul, and Puumala viruses, with lower mortality rates ranging from less than 1% to about 5%.
Prevention measures for HFRS include reducing exposure to rodents and their excreta through proper food storage, waste disposal, and rodent control. Vaccines are available in some countries to prevent HFRS caused by specific viruses.
Hantaan virus (HTNV) is a species of the genus Orthohantavirus, which causes hemorrhagic fever with renal syndrome (HFRS) in humans. This enveloped, single-stranded, negative-sense RNA virus is primarily transmitted to humans through contact with infected rodents or their excreta, particularly the striped field mouse (Apodemus agrarius) in Asia. The virus was initially isolated in 1976 from the Hantaan River area in Korea.
HTNV infection leads to a spectrum of clinical manifestations in HFRS, ranging from mild to severe forms. The symptoms often include fever, headache, muscle pain, nausea, vomiting, abdominal pain, and blurred vision. In severe cases, it can cause acute renal failure, hypotension, and hemorrhagic complications. The incubation period for HTNV infection typically ranges from 7 to 42 days.
Prevention strategies include avoiding contact with rodents, reducing rodent populations in living areas, using personal protective equipment when handling potentially infected materials, and ensuring proper food storage and waste disposal practices. No specific antiviral treatment is available for HFRS caused by HTNV; however, supportive care, such as fluid replacement and hemodialysis, can help manage severe symptoms and improve outcomes.
Hantavirus is an etiologic agent for several clinical syndromes, including hantavirus pulmonary syndrome (HPS) and hemorrhagic fever with renal syndrome (HFRS). It's a single-stranded RNA virus belonging to the family Bunyaviridae, genus Orthohantavirus.
These viruses are primarily transmitted to humans by inhalation of aerosolized excreta from infected rodents. The symptoms can range from flu-like illness to severe respiratory distress and renal failure, depending upon the specific hantavirus species. There are no known treatments for HFRS, but early recognition and supportive care can significantly improve outcomes. Ribavirin has been used in some cases of HPS with apparent benefit, although its general efficacy is not well-established
(References: CDC, NIH, WHO)
Puumala virus (PUUV) is an RNA virus that belongs to the Hantavirus genus in the Bunyaviridae family. It is the most common cause of nephropathia epidemica (NE), also known as hemorrhagic fever with renal syndrome (HFRS), in Europe. The virus is primarily transmitted to humans through contact with infected rodent urine, droppings, or saliva, particularly from the bank vole (Myodes glareolus). The symptoms of NE caused by PUUV include fever, headache, muscle pain, nausea, and vomiting, which can progress to acute kidney injury in severe cases. Preventive measures include avoiding contact with rodents and their excreta, as well as ensuring proper ventilation when cleaning areas where rodents may be present.
Hantavirus infections are a group of viral diseases caused by rodent-borne hantaviruses. These viruses are primarily transmitted to humans through the inhalation of aerosolized urine, droppings, or saliva from infected rodents, particularly the deer mouse, white-tailed mouse, and rice rat in North America.
There are several different types of hantavirus infections, including Hantavirus Pulmonary Syndrome (HPS) and Hemorrhagic Fever with Renal Syndrome (HFRS). HPS is more common in the Americas, while HFRS is more prevalent in Europe and Asia.
Symptoms of hantavirus infections can vary depending on the specific type of infection but may include fever, muscle aches, headache, fatigue, and coughing. In severe cases, hantavirus infections can lead to respiratory failure, shock, and even death.
Preventive measures include avoiding contact with rodents, sealing entry points to prevent their entry into homes or buildings, and using appropriate personal protective equipment when cleaning areas where rodents may have been present. Currently, there is no specific treatment for hantavirus infections, but early recognition and supportive care can improve outcomes.
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.
'Murinae' is not a medical term. It is a taxonomic classification used in biology, specifically for a subfamily of rodents that includes mice, rats, and several related species. The term 'Murinae' comes from the family Muridae, which is the largest family of mammals, containing over 700 species.
The misconception might arise because medical professionals sometimes use common names for various animals or organisms in their diagnoses, treatments, or research. However, it is essential to clarify that 'Murinae' is a scientific classification and not a medical term.
Seoul virus is a type of hantavirus that can cause a severe and sometimes fatal disease in humans called hemorrhagic fever with renal syndrome (HFRS). It is primarily carried by the brown or Norway rat (Rattus norvegicus) and is transmitted to humans through contact with infected rat urine, droppings, or saliva.
The virus can also be spread through aerosolized particles of rat excreta, making it possible for the virus to infect people who come into contact with contaminated dust or airborne particles. In addition, Seoul virus can be transmitted through the bite of an infected rat or by consuming food or water contaminated with rat urine or feces.
The symptoms of Seoul virus infection typically appear within 1-2 weeks after exposure and can include fever, chills, headache, muscle aches, nausea, and vomiting. In severe cases, the virus can cause damage to the blood vessels, leading to bleeding disorders, low blood pressure, and acute kidney failure.
Seoul virus is found worldwide, but it is most commonly reported in Asia. People who work in rat-infested environments, such as sewers, warehouses, and farms, are at increased risk of exposure to the virus. There is no specific treatment for Seoul virus infection, but supportive care, such as fluid replacement and management of complications, can improve outcomes. Prevention measures include avoiding contact with rats and their excreta, using personal protective equipment when working in rat-infested areas, and practicing good hygiene.
Holoprosencephaly is a congenital brain malformation that occurs due to the failure of the prosencephalon (the forebrain) to properly divide into the two hemispheres during embryonic development. This condition can vary in severity, from mild anomalies to severe neurological defects and facial abnormalities.
There are four primary types of holoprosencephaly: alobar, semilobar, lobar, and middle interhemispheric variant (MIV). Alobar holoprosencephaly is the most severe form, where the forebrain fails to divide into separate hemispheres, and there is a single ventricle instead of two. Semilobar holoprosencephaly has some separation of the hemispheres but not completely. Lobar holoprosencephaly shows more separation of the hemispheres, with a more typical appearance of the cerebral cortex. MIV is the mildest form and involves an abnormal development of the corpus callosum and third ventricle.
Facial anomalies often accompany holoprosencephaly, such as a single central eye (cyclopia), closely spaced eyes (hypotelorism), a proboscis above the nose, or a flat nasal bridge with a median cleft lip and palate. The severity of these facial abnormalities can correlate with the degree of brain malformation.
Holoprosencephaly is caused by genetic mutations, chromosomal abnormalities, or environmental factors that disrupt normal embryonic development. It affects approximately 1 in 250 conceptuses but has a lower prevalence at birth due to early pregnancy loss. The condition can be diagnosed through prenatal ultrasound, fetal MRI, or postnatal imaging techniques such as CT or MRI scans. Management of holoprosencephaly involves multidisciplinary care, addressing neurological, developmental, and medical needs.
Hantavirus Pulmonary Syndrome (HPS) is a severe, sometimes fatal, respiratory disease in humans caused by infection with hantaviruses. These viruses are spread to people through the aerosolized urine, droppings, or saliva of infected rodents. The virus cannot be transmitted between humans unless there is direct contact with an infected person's blood or bodily fluids. Early symptoms include fatigue, fever, and muscle aches, followed by coughing and shortness of breath as the lungs fill with fluid leading to severe respiratory distress. It's crucial to seek immediate medical attention if you suspect HPS because it can progress rapidly to serious illness or death within days.
**Hemorrhagic fevers, viral** are a group of severe, potentially fatal illnesses caused by viruses that affect the body's ability to regulate its blood vessels and clotting abilities. These viruses belong to several different families including *Filoviridae* (e.g., Ebola, Marburg), *Arenaviridae* (e.g., Lassa, Machupo), *Bunyaviridae* (e.g., Hantavirus, Crimean-Congo hemorrhagic fever virus) and *Flaviviridae* (e.g., Dengue, Yellow Fever).
The initial symptoms are non-specific and include sudden onset of fever, fatigue, muscle aches, joint pains, headache, and vomiting. As the disease progresses, it may lead to capillary leakage, internal and external bleeding, and multi-organ failure resulting in shock and death in severe cases.
The transmission of these viruses can occur through various means depending on the specific virus. For example, some are transmitted via contact with infected animals or their urine/feces (e.g., Hantavirus), others through insect vectors like ticks (Crimean-Congo hemorrhagic fever) or mosquitoes (Dengue, Yellow Fever), and yet others through direct contact with infected body fluids (Ebola, Marburg).
There are no specific treatments for most viral hemorrhagic fevers. However, some experimental antiviral drugs have shown promise in treating certain types of the disease. Supportive care, such as maintaining blood pressure, replacing lost fluids and electrolytes, and managing pain, is critical to improving outcomes. Prevention measures include avoiding areas where the viruses are common, using personal protective equipment when caring for infected individuals or handling potentially contaminated materials, and controlling insect vectors.
Sources: Centers for Disease Control and Prevention (CDC), World Health Organization (WHO).
A disease reservoir refers to a population or group of living organisms, including humans, animals, and even plants, that can naturally carry and transmit a particular pathogen (disease-causing agent) without necessarily showing symptoms of the disease themselves. These hosts serve as a source of infection for other susceptible individuals, allowing the pathogen to persist and circulate within a community or environment.
Disease reservoirs can be further classified into:
1. **Primary (or Main) Reservoir**: This refers to the species that primarily harbors and transmits the pathogen, contributing significantly to its natural ecology and maintaining its transmission cycle. For example, mosquitoes are the primary reservoirs for many arboviruses like dengue, Zika, and chikungunya viruses.
2. **Amplifying Hosts**: These hosts can become infected with the pathogen and experience a high rate of replication, leading to an increased concentration of the pathogen in their bodies. This allows for efficient transmission to other susceptible hosts or vectors. For instance, birds are amplifying hosts for West Nile virus, as they can become viremic (have high levels of virus in their blood) and infect feeding mosquitoes that then transmit the virus to other animals and humans.
3. **Dead-end Hosts**: These hosts may become infected with the pathogen but do not contribute significantly to its transmission cycle, as they either do not develop sufficient quantities of the pathogen to transmit it or do not come into contact with potential vectors or susceptible hosts. For example, humans are dead-end hosts for many zoonotic diseases like rabies, as they cannot transmit the virus to other humans.
Understanding disease reservoirs is crucial in developing effective strategies for controlling and preventing infectious diseases, as it helps identify key species and environments that contribute to their persistence and transmission.
In medical terms, the jaw is referred to as the mandible (in humans and some other animals), which is the lower part of the face that holds the lower teeth in place. It's a large, horseshoe-shaped bone that forms the lower jaw and serves as a attachment point for several muscles that are involved in chewing and moving the lower jaw.
In addition to the mandible, the upper jaw is composed of two bones known as the maxillae, which fuse together at the midline of the face to form the upper jaw. The upper jaw holds the upper teeth in place and forms the roof of the mouth, as well as a portion of the eye sockets and nasal cavity.
Together, the mandible and maxillae allow for various functions such as speaking, eating, and breathing.
Arvicolinae is a subfamily of rodents that includes voles, lemmings, and muskrats. These small mammals are characterized by their short legs, rounded bodies, and short tails. They are primarily found in the northern hemisphere, with the majority of species living in North America and Eurasia.
Arvicolines are known for their high reproductive rate and ability to survive in a variety of habitats, including grasslands, forests, tundra, and wetlands. They have a unique set of teeth called hypsodont teeth, which continue to grow throughout their lives. This adaptation allows them to wear down their teeth as they gnaw on tough plant material.
Many arvicoline species are important prey animals for larger predators, such as hawks, owls, and foxes. Some species, like the muskrat, are also hunted by humans for their fur or meat. In recent years, some arvicoline populations have experienced dramatic fluctuations in size due to changes in their habitats and food supplies, leading to concerns about their conservation status.
I'm sorry for any confusion, but "Montenegro" is not a medical term or condition. It is the name of a country located in Southeastern Europe on the Adriatic Sea. If you have any questions related to medical terminology or health concerns, I would be happy to help answer those!
I'm sorry for any confusion, but "Slovenia" is not a medical term. It is actually a country located in Central Europe. If you have any questions about medical terms or concepts, I would be happy to help clarify those for you.
The branchial region, also known as the pharyngeal region or viscerocranium, is a term used in human anatomy to refer to the area of the developing embryo that gives rise to structures derived from the branchial (or pharyngeal) arches. The branchial arches are a series of paired, rod-like structures that appear early in embryonic development and give rise to various head and neck structures, including the bones and muscles of the face, jaws, and neck, as well as the associated nerves, blood vessels, and connective tissues.
The branchial region is divided into several subregions, each corresponding to a specific branchial arch. The first branchial arch gives rise to structures such as the mandible (lower jaw), maxilla (upper jaw), and muscles of mastication (chewing). The second branchial arch forms the stapes and styloid process in the ear, as well as some neck muscles. The third and fourth branchial arches contribute to the formation of the larynx, thyroid cartilage, and other structures in the neck.
Abnormalities in the development of the branchial region can lead to a variety of congenital defects, such as cleft palate, micrognathia (small jaw), and branchial cysts or sinuses. These conditions may require surgical intervention to correct.
I am not aware of a specific medical definition for the term "China." Generally, it is used to refer to:
1. The People's Republic of China (PRC), which is a country in East Asia. It is the most populous country in the world and the fourth largest by geographical area. Its capital city is Beijing.
2. In a historical context, "China" was used to refer to various dynasties and empires that existed in East Asia over thousands of years. The term "Middle Kingdom" or "Zhongguo" (中国) has been used by the Chinese people to refer to their country for centuries.
3. In a more general sense, "China" can also be used to describe products or goods that originate from or are associated with the People's Republic of China.
If you have a specific context in which you encountered the term "China" related to medicine, please provide it so I can give a more accurate response.
Rodent-borne diseases are infectious diseases transmitted to humans (and other animals) by rodents, their parasites or by contact with rodent urine, feces, or saliva. These diseases can be caused by viruses, bacteria, fungi, or parasites. Some examples of rodent-borne diseases include Hantavirus Pulmonary Syndrome, Leptospirosis, Salmonellosis, Rat-bite fever, and Plague. It's important to note that rodents can also cause allergic reactions in some people through their dander, urine, or saliva. Proper sanitation, rodent control measures, and protective equipment when handling rodents can help prevent the spread of these diseases.
"Rodentia" is not a medical term, but a taxonomic category in biology. It refers to the largest order of mammals, comprising over 40% of all mammal species. Commonly known as rodents, this group includes mice, rats, hamsters, gerbils, guinea pigs, squirrels, prairie dogs, capybaras, beavers, and many others.
While "Rodentia" itself is not a medical term, certain conditions or issues related to rodents can have medical implications. For instance, rodents are known to carry and transmit various diseases that can affect humans, such as hantavirus, leptospirosis, salmonellosis, and lymphocytic choriomeningitis (LCMV). Therefore, understanding the biology and behavior of rodents is important in the context of public health and preventive medicine.
The telencephalon is the most anterior (front) region of the embryonic brain, which eventually develops into the largest portion of the adult human brain, including the cerebral cortex, basal ganglia, and olfactory bulbs. It is derived from the prosencephalon (forebrain) during embryonic development and is responsible for higher cognitive functions such as thinking, perception, and language. The telencephalon can be further divided into two hemispheres, each containing regions associated with different functions.
Dental pulp calcification, also known as pulp stones or denticles, refers to the formation of hard tissue within the pulp chamber of a tooth. The pulp chamber is the central part of a tooth that contains its nerves, blood vessels, and connective tissues.
Pulp calcification occurs when the soft tissue of the pulp gradually transforms into a harder, calcified substance. This can happen as a result of aging, injury, or inflammation in the pulp chamber. Over time, these calcifications can build up and make the pulp chamber smaller, which can potentially lead to problems with the tooth's nerve and blood supply.
While dental pulp calcification is not usually harmful on its own, it can cause issues if it becomes severe enough to compress the tooth's nerve or restrict blood flow. In some cases, calcifications may also make root canal treatment more difficult, as there may be less space to work within the pulp chamber.
Antibodies, viral are proteins produced by the immune system in response to an infection with a virus. These antibodies are capable of recognizing and binding to specific antigens on the surface of the virus, which helps to neutralize or destroy the virus and prevent its replication. Once produced, these antibodies can provide immunity against future infections with the same virus.
Viral antibodies are typically composed of four polypeptide chains - two heavy chains and two light chains - that are held together by disulfide bonds. The binding site for the antigen is located at the tip of the Y-shaped structure, formed by the variable regions of the heavy and light chains.
There are five classes of antibodies in humans: IgA, IgD, IgE, IgG, and IgM. Each class has a different function and is distributed differently throughout the body. For example, IgG is the most common type of antibody found in the bloodstream and provides long-term immunity against viruses, while IgA is found primarily in mucous membranes and helps to protect against respiratory and gastrointestinal infections.
In addition to their role in the immune response, viral antibodies can also be used as diagnostic tools to detect the presence of a specific virus in a patient's blood or other bodily fluids.
I apologize for any confusion, but "Muridae" is not a medical term. It is a taxonomic category in biology, specifically it is a family of rodents that includes mice, rats, hamsters, gerbils, and many other species. If you have any questions about medical terminology or concepts, I would be happy to help with those.
Sin Nombre virus (SNV) is a type of hantavirus that was first identified in 1993 during an outbreak of severe respiratory illness in the Four Corners region of the southwestern United States. The name "Sin Nombre" means "without name" in Spanish and was given to the virus because it had not been previously identified or named.
SNV is primarily carried by deer mice (Peromyscus maniculatus) and can be transmitted to humans through contact with infected rodent urine, droppings, or saliva, or by inhaling aerosolized particles of the virus. The virus causes hantavirus pulmonary syndrome (HPS), a severe and sometimes fatal respiratory disease characterized by fever, muscle aches, coughing, and shortness of breath.
SNV is a single-stranded RNA virus that belongs to the family Bunyaviridae and the genus Hantavirus. It is a select agent, which means that it has the potential to pose a severe threat to public health and safety, and is therefore subject to strict regulations and controls by the Centers for Disease Control and Prevention (CDC) and other federal agencies.
Nucleocapsid proteins are structural proteins that are associated with the viral genome in many viruses. They play a crucial role in the formation and stability of the viral particle, also known as the virion. In particular, nucleocapsid proteins bind to the viral RNA or DNA genome and help to protect it from degradation by host cell enzymes. They also participate in the assembly and disassembly of the virion during the viral replication cycle.
In some viruses, such as coronaviruses, the nucleocapsid protein is also involved in regulating the transcription and replication of the viral genome. The nucleocapsid protein of SARS-CoV-2, for example, has been shown to interact with host cell proteins that are involved in the regulation of gene expression, which may contribute to the virus's ability to manipulate the host cell environment and evade the immune response.
Overall, nucleocapsid proteins are important components of many viruses and are often targeted by antiviral therapies due to their essential role in the viral replication cycle.
Down syndrome is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is characterized by intellectual and developmental disabilities, distinctive facial features, and sometimes physical growth delays and health problems. The condition affects approximately one in every 700 babies born in the United States.
Individuals with Down syndrome have varying degrees of cognitive impairment, ranging from mild to moderate or severe. They may also have delayed development, including late walking and talking, and may require additional support and education services throughout their lives.
People with Down syndrome are at increased risk for certain health conditions, such as congenital heart defects, respiratory infections, hearing loss, vision problems, gastrointestinal issues, and thyroid disorders. However, many individuals with Down syndrome live healthy and fulfilling lives with appropriate medical care and support.
The condition is named after John Langdon Down, an English physician who first described the syndrome in 1866.
Metabolic syndrome, also known as Syndrome X, is a cluster of conditions that increase the risk of heart disease, stroke, and diabetes. It is not a single disease but a group of risk factors that often co-occur. According to the American Heart Association and the National Heart, Lung, and Blood Institute, a person has metabolic syndrome if they have any three of the following five conditions:
1. Abdominal obesity (waist circumference of 40 inches or more in men, and 35 inches or more in women)
2. Triglyceride level of 150 milligrams per deciliter of blood (mg/dL) or greater
3. HDL cholesterol level of less than 40 mg/dL in men or less than 50 mg/dL in women
4. Systolic blood pressure of 130 millimeters of mercury (mmHg) or greater, or diastolic blood pressure of 85 mmHg or greater
5. Fasting glucose level of 100 mg/dL or greater
Metabolic syndrome is thought to be caused by a combination of genetic and lifestyle factors, such as physical inactivity and a diet high in refined carbohydrates and unhealthy fats. Treatment typically involves making lifestyle changes, such as eating a healthy diet, getting regular exercise, and losing weight if necessary. In some cases, medication may also be needed to manage individual components of the syndrome, such as high blood pressure or high cholesterol.
I apologize for any confusion, but "Croatia" is not a medical term or condition. It is a country located in Central and Southeastern Europe. If you have any questions about Croatian healthcare or medical practices, I would be happy to try to help answer those for you.
Hemoptysis is the medical term for coughing up blood that originates from the lungs or lower respiratory tract. It can range in severity from streaks of blood mixed with mucus to large amounts of pure blood. Hemoptysis may be a sign of various underlying conditions, such as bronchitis, pneumonia, tuberculosis, cancer, or blood disorders. Immediate medical attention is required when hemoptysis occurs, especially if it's in significant quantities, to determine the cause and provide appropriate treatment.
Climate, in the context of environmental science and medicine, refers to the long-term average of weather conditions (such as temperature, humidity, atmospheric pressure, wind, rainfall, and other meteorological elements) in a given region over a period of years to decades. It is the statistical description of the weather patterns that occur in a particular location over long periods of time.
In medical terms, climate can have significant impacts on human health, both physical and mental. For example, extreme temperatures, air pollution, and ultraviolet radiation levels associated with certain climates can increase the risk of respiratory and cardiovascular diseases, heat-related illnesses, and skin cancer. Similarly, changes in climate patterns can affect the distribution and prevalence of infectious diseases, such as malaria and Lyme disease.
Climate change, which refers to significant long-term changes in the statistical distribution of weather patterns over periods ranging from decades to millions of years, can have even more profound impacts on human health, including increased rates of heat-related illnesses and deaths, worsening air quality, and altered transmission patterns of infectious diseases.
I'm sorry for any confusion, but "rain" is not a medical term. In general, rain refers to water droplets that fall from the sky as part of the Earth's weather cycle. These drops form when moisture in the air condenses and cools, creating clouds which eventually become heavy enough to release the collected water.
If you have any medical concerns or questions, I'd be happy to try and help answer those for you!
A disease vector is a living organism that transmits infectious pathogens from one host to another. These vectors can include mosquitoes, ticks, fleas, and other arthropods that carry viruses, bacteria, parasites, or other disease-causing agents. The vector becomes infected with the pathogen after biting an infected host, and then transmits the infection to another host through its saliva or feces during a subsequent blood meal.
Disease vectors are of particular concern in public health because they can spread diseases rapidly and efficiently, often over large geographic areas. Controlling vector-borne diseases requires a multifaceted approach that includes reducing vector populations, preventing bites, and developing vaccines or treatments for the associated diseases.
I'm sorry for any confusion, but "seasons" is not a term that has a medical definition. Seasons refer to the four divisions of the year (spring, summer, autumn or fall, and winter) based on the position of the earth in its orbit around the sun. If you have any questions related to health or medicine, I'd be happy to try to help answer those!
Vero cells are a line of cultured kidney epithelial cells that were isolated from an African green monkey (Cercopithecus aethiops) in the 1960s. They are named after the location where they were initially developed, the Vervet Research Institute in Japan.
Vero cells have the ability to divide indefinitely under certain laboratory conditions and are often used in scientific research, including virology, as a host cell for viruses to replicate. This allows researchers to study the characteristics of various viruses, such as their growth patterns and interactions with host cells. Vero cells are also used in the production of some vaccines, including those for rabies, polio, and Japanese encephalitis.
It is important to note that while Vero cells have been widely used in research and vaccine production, they can still have variations between different cell lines due to factors like passage number or culture conditions. Therefore, it's essential to specify the exact source and condition of Vero cells when reporting experimental results.
An antigen is any substance that can stimulate an immune response, particularly the production of antibodies. Viral antigens are antigens that are found on or produced by viruses. They can be proteins, glycoproteins, or carbohydrates present on the surface or inside the viral particle.
Viral antigens play a crucial role in the immune system's recognition and response to viral infections. When a virus infects a host cell, it may display its antigens on the surface of the infected cell. This allows the immune system to recognize and target the infected cells for destruction, thereby limiting the spread of the virus.
Viral antigens are also important targets for vaccines. Vaccines typically work by introducing a harmless form of a viral antigen to the body, which then stimulates the production of antibodies and memory T-cells that can recognize and respond quickly and effectively to future infections with the actual virus.
It's worth noting that different types of viruses have different antigens, and these antigens can vary between strains of the same virus. This is why there are often different vaccines available for different viral diseases, and why flu vaccines need to be updated every year to account for changes in the circulating influenza virus strains.
'Cercopithecus aethiops' is the scientific name for the monkey species more commonly known as the green monkey. It belongs to the family Cercopithecidae and is native to western Africa. The green monkey is omnivorous, with a diet that includes fruits, nuts, seeds, insects, and small vertebrates. They are known for their distinctive greenish-brown fur and long tail. Green monkeys are also important animal models in biomedical research due to their susceptibility to certain diseases, such as SIV (simian immunodeficiency virus), which is closely related to HIV.
RNA viruses are a type of virus that contain ribonucleic acid (RNA) as their genetic material, as opposed to deoxyribonucleic acid (DNA). RNA viruses replicate by using an enzyme called RNA-dependent RNA polymerase to transcribe and replicate their RNA genome.
There are several different groups of RNA viruses, including:
1. Negative-sense single-stranded RNA viruses: These viruses have a genome that is complementary to the mRNA and must undergo transcription to produce mRNA before translation can occur. Examples include influenza virus, measles virus, and rabies virus.
2. Positive-sense single-stranded RNA viruses: These viruses have a genome that can serve as mRNA and can be directly translated into protein after entry into the host cell. Examples include poliovirus, rhinoviruses, and coronaviruses.
3. Double-stranded RNA viruses: These viruses have a genome consisting of double-stranded RNA and use a complex replication strategy involving both transcription and reverse transcription. Examples include rotaviruses and reoviruses.
RNA viruses are known to cause a wide range of human diseases, ranging from the common cold to more severe illnesses such as hepatitis C, polio, and COVID-19. Due to their high mutation rates and ability to adapt quickly to new environments, RNA viruses can be difficult to control and treat with antiviral drugs or vaccines.
Branchio-Oto-Rnal (BOR) syndrome is a genetic disorder that affects the development of structures in the neck and head, as well as the kidneys and ears. The name "branchio-oto-renal" comes from the Greek words "branchia," meaning gill, "ot", meaning ear, and "renal," meaning kidney, reflecting the main areas affected by this syndrome.
BOR syndrome is characterized by a combination of the following features:
1. Branchial arch anomalies: These are abnormalities in the structures that develop from the branchial arches, which are embryonic structures that give rise to various parts of the head and neck. In BOR syndrome, these anomalies may include pits, tags, or cysts on the side of the neck.
2. Hearing loss: Most people with BOR syndrome have hearing loss, which can range from mild to severe. The hearing loss is often conductive, meaning it results from problems with the outer or middle ear, but it can also be sensorineural, meaning it affects the inner ear or nerve pathways that transmit sound to the brain.
3. Renal anomalies: About 25% of people with BOR syndrome have kidney abnormalities, which can include structural defects, such as horseshoe kidney, or functional problems, such as renal insufficiency.
BOR syndrome is caused by mutations in the EYA1 gene, which is involved in the development and function of the ears, kidneys, and other structures in the body. The condition is inherited in an autosomal dominant manner, meaning that a person has a 50% chance of inheriting the disorder if one of their parents has it.
Treatment for BOR syndrome typically involves addressing the specific symptoms and complications that arise. For example, hearing loss may be managed with hearing aids or cochlear implants, while kidney problems may require surgery or other interventions. Regular monitoring by a healthcare team is also important to detect and manage any potential complications.
An encyclopedia is a comprehensive reference work containing articles on various topics, usually arranged in alphabetical order. In the context of medicine, a medical encyclopedia is a collection of articles that provide information about a wide range of medical topics, including diseases and conditions, treatments, tests, procedures, and anatomy and physiology. Medical encyclopedias may be published in print or electronic formats and are often used as a starting point for researching medical topics. They can provide reliable and accurate information on medical subjects, making them useful resources for healthcare professionals, students, and patients alike. Some well-known examples of medical encyclopedias include the Merck Manual and the Stedman's Medical Dictionary.
Protein Tyrosine Phosphatases (PTPs) are a group of enzymes that play a crucial role in the regulation of various cellular processes, including cell growth, differentiation, and signal transduction. PTPs function by removing phosphate groups from tyrosine residues on proteins, thereby counteracting the effects of tyrosine kinases, which add phosphate groups to tyrosine residues to activate proteins.
PTPs are classified into several subfamilies based on their structure and function, including classical PTPs, dual-specificity PTPs (DSPs), and low molecular weight PTPs (LMW-PTPs). Each subfamily has distinct substrate specificities and regulatory mechanisms.
Classical PTPs are further divided into receptor-like PTPs (RPTPs) and non-receptor PTPs (NRPTPs). RPTPs contain a transmembrane domain and extracellular regions that mediate cell-cell interactions, while NRPTPs are soluble enzymes located in the cytoplasm.
DSPs can dephosphorylate both tyrosine and serine/threonine residues on proteins and play a critical role in regulating various signaling pathways, including the mitogen-activated protein kinase (MAPK) pathway.
LMW-PTPs are a group of small molecular weight PTPs that localize to different cellular compartments, such as the endoplasmic reticulum and mitochondria, and regulate various cellular processes, including protein folding and apoptosis.
Overall, PTPs play a critical role in maintaining the balance of phosphorylation and dephosphorylation events in cells, and dysregulation of PTP activity has been implicated in various diseases, including cancer, diabetes, and neurological disorders.
The external ear is the visible portion of the ear that resides outside of the head. It consists of two main structures: the pinna or auricle, which is the cartilaginous structure that people commonly refer to as the "ear," and the external auditory canal, which is the tubular passageway that leads to the eardrum (tympanic membrane).
The primary function of the external ear is to collect and direct sound waves into the middle and inner ear, where they can be converted into neural signals and transmitted to the brain for processing. The external ear also helps protect the middle and inner ear from damage by foreign objects and excessive noise.
The ear is the sensory organ responsible for hearing and maintaining balance. It can be divided into three parts: the outer ear, middle ear, and inner ear. The outer ear consists of the pinna (the visible part of the ear) and the external auditory canal, which directs sound waves toward the eardrum. The middle ear contains three small bones called ossicles that transmit sound vibrations from the eardrum to the inner ear. The inner ear contains the cochlea, a spiral-shaped organ responsible for converting sound vibrations into electrical signals that are sent to the brain, and the vestibular system, which is responsible for maintaining balance.
Intracellular signaling peptides and proteins are molecules that play a crucial role in transmitting signals within cells, which ultimately lead to changes in cell behavior or function. These signals can originate from outside the cell (extracellular) or within the cell itself. Intracellular signaling molecules include various types of peptides and proteins, such as:
1. G-protein coupled receptors (GPCRs): These are seven-transmembrane domain receptors that bind to extracellular signaling molecules like hormones, neurotransmitters, or chemokines. Upon activation, they initiate a cascade of intracellular signals through G proteins and secondary messengers.
2. Receptor tyrosine kinases (RTKs): These are transmembrane receptors that bind to growth factors, cytokines, or hormones. Activation of RTKs leads to autophosphorylation of specific tyrosine residues, creating binding sites for intracellular signaling proteins such as adapter proteins, phosphatases, and enzymes like Ras, PI3K, and Src family kinases.
3. Second messenger systems: Intracellular second messengers are small molecules that amplify and propagate signals within the cell. Examples include cyclic adenosine monophosphate (cAMP), cyclic guanosine monophosphate (cGMP), diacylglycerol (DAG), inositol triphosphate (IP3), calcium ions (Ca2+), and nitric oxide (NO). These second messengers activate or inhibit various downstream effectors, leading to changes in cellular responses.
4. Signal transduction cascades: Intracellular signaling proteins often form complex networks of interacting molecules that relay signals from the plasma membrane to the nucleus. These cascades involve kinases (protein kinases A, B, C, etc.), phosphatases, and adapter proteins, which ultimately regulate gene expression, cell cycle progression, metabolism, and other cellular processes.
5. Ubiquitination and proteasome degradation: Intracellular signaling pathways can also control protein stability by modulating ubiquitin-proteasome degradation. E3 ubiquitin ligases recognize specific substrates and conjugate them with ubiquitin molecules, targeting them for proteasomal degradation. This process regulates the abundance of key signaling proteins and contributes to signal termination or amplification.
In summary, intracellular signaling pathways involve a complex network of interacting proteins that relay signals from the plasma membrane to various cellular compartments, ultimately regulating gene expression, metabolism, and other cellular processes. Dysregulation of these pathways can contribute to disease development and progression, making them attractive targets for therapeutic intervention.
The ear auricle, also known as the pinna or outer ear, is the visible external structure of the ear that serves to collect and direct sound waves into the ear canal. It is composed of cartilage and skin and is shaped like a curved funnel. The ear auricle consists of several parts including the helix (the outer rim), antihelix (the inner curved prominence), tragus and antitragus (the small pointed eminences in front of and behind the ear canal opening), concha (the bowl-shaped area that directs sound into the ear canal), and lobule (the fleshy lower part hanging from the ear).
Branchio-oto-renal syndrome
SALL1
Lachiewicz-Sibley syndrome
SIX5
Otofaciocervical syndrome
Homeobox protein SIX1
Multicystic dysplastic kidney
Branchio-oculo-facial syndrome
Metanephrogenic blastema
Eyes absent homolog 1
Preauricular sinus and cyst
Enlarged vestibular aqueduct
Branchial cleft cyst
Eyes absent homolog 2
DACH1
NDUFB9
Mondini dysplasia
Townes-Brocks syndrome
Conductive hearing loss
List of MeSH codes (C16)
List of geneticists
Renal agenesis
Sensorineural hearing loss
List of syndromes
List of diseases (B)
Branchio-oto-renal syndrome - Wikipedia
Branchio-oto-renal syndrome: comprehensive review based on nationwide surveillance in Japan
Clinical aspects of hereditary hearing loss | Genetics in Medicine
Reckoning the SIX1 mutation's effects in branchio-oto-renal syndrome - A bioinformatics approach - VIT University
Branchiootorenal/branchiootic syndrome: MedlinePlus Genetics
Hearing Impairment: Practice Essentials, Anatomy, Pathophysiology
Preauricular Sinuses Clinical Presentation: History, Physical Examination
Hole in ear (preauricular pit): What to know
Inner Ear Organoids: Recapitulating Inner Ear Development in 3D Culture | SpringerLink
Renal Agenesis/Hypoplasia | NCBDDD | CDC
Syndromic Sensorineural Hearing Loss: Practice Essentials, Pathophysiology, Epidemiology
Syndromic sensorineural hearing loss - Health in Code
DACH1 and EYA1 - Wiki-MPM
EYA1 and SIX2 - Wiki-MPM
Paediatrics: Inherited renal disease
22q11 Deletion Syndrome | Harvard Catalyst Profiles | Harvard Catalyst
Deafened,Can Deafness Be Cured? - 2023 - Meds Helper
Hoxa2 downregulates Six2 in the neural crest-derived mesenchyme | Development | The Company of Biologists
SIX1 Gene | Encyclopedia MDPI
Pesquisa | Biblioteca Virtual em Saúde - BRASIL
SIX1 | MENDELIAN.CO
Preauricular Sinus-classic versus Variant Types among a Cross-section Subjects in Southwestern Nigeria - Afe Babalola...
Vestibular Physiotherapy in London | Harley Street AVM
Rhode Island Medical Home Portal - Hearing Loss & Deafness
Werner syndrome. Medical search
8q12 microduplication including CHD7: clinical report on a new patient with Duane retraction syndrome type 3 | Molecular...
Congenital Ear Abnormalities - Pediatrics - MSD Manual Professional Edition
Search | Global Index Medicus
Student Teaching Notes2008
Anomalies14
- Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchiogenic malformation, hearing loss and renal anomalies. (nih.gov)
- Branchio-oto-renal syndrome is a genetic condition that causes tissue anomalies in the ears, neck, and kidneys. (medicalnewstoday.com)
- In about half of all cases of bilateral renal agenesis there are other structural anomalies (e.g. urogenital, cardiac, skeletal, central nervous system) or syndromes (chromosomal or genetic). (cdc.gov)
- Look for major anomalies and minor anomalies - renal agenesis is seen in hundreds of genetic conditions, including common trisomies, deletion 22q11, Melnick-Fraser syndrome, Fraser cryptophthalmos syndrome, and branchio-oto-renal syndrome. (cdc.gov)
- Determine related anomalies in bilateral renal agenesis (Potter sequence: abnormal facies, talipes [clubfoot] and other contractures, pulmonary hypoplasia). (cdc.gov)
- Distinguish renal agenesis from other kidney anomalies (multicystic dysplasia and polycystic renal disease). (cdc.gov)
- Other anomalies of urinary tract (renal) or genital organs. (cdc.gov)
- Branchio-oto-renal syndrome Hearing loss, branchial arch defects, renal anomalies. (brainkart.com)
- Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts). (mendelian.co)
- Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. (mendelian.co)
- This and other congenital ear malformations are sometimes associated with renal anomalies such as branchio-oto-renal syndrome. (edu.ng)
- Microduplication of 8q12, encompassing the CHD7 gene, which is mutated or deleted in CHARGE syndrome, has recently been identified to result in a novel multiple congenital anomalies syndrome. (biomedcentral.com)
- Patients with these anomalies should be evaluated for hearing loss and for other congenital anomalies (eg, kidney anomalies with ear pits in branchio-oto-renal syndrome). (msdmanuals.com)
- The rate of kidney anomalies is increased in people with ear pits, so renal ultrasonography should be considered. (msdmanuals.com)
SIX17
- The cause of branchio-oto-renal syndrome are mutations in genes, EYA1, SIX1, and SIX5 (approximately 40 percent of those born with this condition have a mutation in the EYA1 gene). (wikipedia.org)
- Three causative genes for BOR syndrome have been reported thus far: EYA1, SIX1, and SIX5, but the causative genes for approximately half of all BOR patients remain unknown. (nih.gov)
- Mutations in three genes, EYA1 , SIX1 , and SIX5 , have been reported in people with BOR/BO syndrome. (medlineplus.gov)
- At least nine mutations in the SIX1 gene have been identified in people with branchiootorenal (BOR) syndrome, a condition that disrupts the development of tissues in the neck and causes malformations of the ears and kidneys. (encyclopedia.pub)
- A few SIX1 gene mutations have also been found to cause branchiootic (BO) syndrome, which includes many of the same features as BOR syndrome except for kidney (renal) malformations. (encyclopedia.pub)
- In some cases, the same SIX1 gene mutation causes BOR syndrome in some members of a family and BO syndrome in others. (encyclopedia.pub)
- SIX1 mutation screening in 247 branchio-oto-renal syndrome families: arecurrent missense mutation associated with BOR. (encyclopedia.pub)
Hypoplasia6
- Renal hypoplasia is a congenitally small kidney without dysplasia and can be bilateral or unilateral (see Fig. 33 ). (cdc.gov)
- Renal agenesis or hypoplasia is conclusively diagnosed only through direct assessment by abdominal ultrasound, CT or MRI scan, surgery, or autopsy. (cdc.gov)
- Bilateral renal hypoplasia might or might not be recognized after delivery, depending on the severity and degree of residual kidney function. (cdc.gov)
- Unilateral renal agenesis or hypoplasia may be clinically silent at delivery if the contralateral kidney is functional, such that the diagnosis may occur months or years after birth (if at all). (cdc.gov)
- Agenesis and/or hypoplasia (unilateral renal agenesis with contralateral renal hypoplasia). (cdc.gov)
- A syndrome of multiple abnormalities characterized by the absence or hypoplasia of the PATELLA and congenital nail dystrophy. (bvsalud.org)
Malformations2
- Branchiootorenal (BOR) syndrome is a condition that disrupts the development of tissues in the neck and causes malformations of the ears and kidneys. (medlineplus.gov)
- Noonan syndrome ( NS ) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. (handwiki.org)
Agenesis6
- Renal agenesis is a complete absence of one (unilateral) or both (bilateral) kidneys, whereas in renal aplasia the kidney has failed to develop beyond its most primitive form. (cdc.gov)
- In practice, renal agenesis and renal aplasia might be indistinguishable. (cdc.gov)
- Renal agenesis can be diagnosed or strongly suspected prenatally by ultrasound but should always be confirmed postnatally. (cdc.gov)
- Bilateral renal agenesis should be considered in an infant with features of Potter sequence. (cdc.gov)
- Bilateral renal agenesis is a lethal condition - the fetus may be stillborn or die shortly after delivery. (cdc.gov)
- renal problems include agenesis, ectopy, or obstruction. (brainkart.com)
Abnormalities11
- Branchiootic (BO) syndrome includes many of the same features as BOR syndrome, but affected individuals do not have kidney abnormalities. (medlineplus.gov)
- most people with BOR/BO syndrome have hearing loss and other ear abnormalities. (medlineplus.gov)
- BOR syndrome (but not BO syndrome) causes abnormalities of kidney structure and function. (medlineplus.gov)
- and a syndrome that includes preauricular sinuses, conductive deafness, commissural lip pits, and external ear abnormalities. (medscape.com)
- Many renal abnormalities are inherited. (brainkart.com)
- It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. (harvard.edu)
- Abnormalities in gray matter microstructure in young adults with 22q11.2 deletion syndrome. (harvard.edu)
- A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. (sdsu.edu)
- and renal and other abnormalities. (ouhsc.edu)
- This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY. (rush.edu)
- Abnormalities in the limbs and extremities may occur in Noonan syndrome. (handwiki.org)
Mutations3
- SIX5 gene mutations have been found in a small number of people with BOR syndrome, although researchers question whether mutations in this gene cause the condition. (medlineplus.gov)
- Mutations in the NSD1 protein and its HAPLOINSUFFICIENCY are associated with the syndrome. (childrensmercy.org)
- A number of genetic mutations can result in Noonan syndrome. (handwiki.org)
Branchiootorenal1
- The two conditions are otherwise so similar that researchers often consider them together (BOR/BO syndrome or branchiootorenal spectrum disorders). (medlineplus.gov)
Signs and symptoms3
- The signs and symptoms of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant chronic kidney disease or kidney failure. (wikipedia.org)
- The major signs and symptoms of BOR/BO syndrome result from abnormal development of the second branchial arch, the ears, and (in BOR syndrome) the kidneys. (encyclopedia.pub)
- Skin signs and symptoms in Noonan syndrome include lymphedema (lymph swelling of the extremities), keloid formation, excessive scar formation, hyperkeratosis (overdevelopment of outer skin layer), pigmented nevi (darkly pigmented skin spots), and connective tissue disease. (handwiki.org)
Branchial arch2
- Branchio-" refers to the second branchial arch, which is a structure in the developing embryo that gives rise to tissues in the front and side of the neck. (medlineplus.gov)
- In people with BOR/BO syndrome, abnormal development of the second branchial arch can result in the formation of masses in the neck called branchial cleft cysts. (medlineplus.gov)
Melnick-Fraser1
- It is also known as Melnick-Fraser syndrome. (wikipedia.org)
Autosomal dominant4
- Branchio-oto-renal syndrome (BOR) is an autosomal dominant genetic disorder involving the kidneys, ears, and neck. (wikipedia.org)
- The genetics of branchio-oto-renal syndrome indicate it is inherited in an autosomal dominant manner with variable clinical manifestations affecting branchial, renal, and auditory development. (wikipedia.org)
- BOR/BO syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. (medlineplus.gov)
- A novel autosomal dominant syndrome consisting of hypertelorism, punctal pits, preauricular sinus, and deafness (HPPD) located on 14q31 has been noted. (medscape.com)
Waardenburg2
- Waardenburg syndrome. (healthincode.com)
- Waardenburg syndrome: 1-9 /100,000 (ORPHA:3440). (healthincode.com)
Jervell2
- Jervell and Lange-Nielsen syndrome. (healthincode.com)
- Jervell and Lange-Nielsen syndrome: 1-9 /1,000,000 (ORPHA:90647). (healthincode.com)
Dysplasia1
- Be sure not to confuse this condition with multicystic dysplastic kidney or multicystic renal dysplasia. (cdc.gov)
40,000 in Western countries2
- The epidemiology of branchio-oto-renal syndrome has it with a prevalence of 1/40,000 in Western countries. (wikipedia.org)
- The prevalence of BOR syndrome is 1/40,000 in Western countries, and nationwide surveillance in 2009-2010 identified approximately 250 BOR patients in Japan. (nih.gov)
Symptoms3
- medical citation needed] Diagnosis of BO syndrome or BOR syndrome is clinical, i.e. based on observing an appropriate combination of symptoms. (wikipedia.org)
- This review article discusses the epidemiology, clinical symptoms, genetic background and management of BOR syndrome. (nih.gov)
- More than 400 syndromes associated with hearing loss and other symptoms have been described, corresponding to 30% of cases of hereditary hearing loss. (elsevierpure.com)
Overgrowth syndrome2
- Beckwith-Wiedemann syndrome is an overgrowth syndrome that affects many parts of the body. (medicalnewstoday.com)
- Congenital or postnatal overgrowth syndrome most often in height and occipitofrontal circumference with variable delayed motor and cognitive development. (childrensmercy.org)
Cysts3
- Commonest inherited renal disease (1/400 to 1/1000), which usually only manifests in adult life, but cysts can be seen on US scan in children. (brainkart.com)
- Multi-organ involvement (intracranial aneurysms, liver and pancreatic cysts, mitral valve prolapse), abdominal mass, haematuria, pain (rare presentation in neonatal period with abdom-inal masses and/or high or low BP, renal impairment). (brainkart.com)
- Although cysts only occur in 5% of the tubules in the kidney, the enormous growth of these cysts ultimately leads to the loss of normal surrounding tissues and loss of renal function. (basicmedicalkey.com)
Auditory2
- These genetic entities can exclusively cause deafness or be part of syndromes with other non-auditory alterations. (healthincode.com)
- The development of the ears and auditory system may be affected in people with Noonan's syndrome. (handwiki.org)
Usher3
- Usher syndrome (types 1, 2, 3). (healthincode.com)
- Usher syndrome: ORPHA: 1/30,000 (ORPHA:886). (healthincode.com)
- For example, children with Usher syndrome may initially be thought to have non-syndromic hearing loss but, as the associated retinitis pigmentosa becomes apparent with age, the syndromic diagnosis becomes apparent. (medicalhomeportal.org)
22q115
- 22q11 Deletion Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (harvard.edu)
- 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome. (harvard.edu)
- This graph shows the total number of publications written about "22q11 Deletion Syndrome" by people in Harvard Catalyst Profiles by year, and whether "22q11 Deletion Syndrome" was a major or minor topic of these publication. (harvard.edu)
- Below are the most recent publications written about "22q11 Deletion Syndrome" by people in Profiles. (harvard.edu)
- Frontal Hypoactivation During a Working Memory Task in Children With 22q11 Deletion Syndrome. (harvard.edu)
ESRD2
- In some cases, end-stage renal disease (ESRD) develops later in life. (medlineplus.gov)
- 1 2 This poses a significant global disease burden as the risk for end stage renal disease (ESRD), cardiovascular morbidity, and mortality increases with declining glomerular filtration rate (GFR), 3 the most commonly used measure of kidney function. (bioseek.eu)
Clinical3
- Gene content analysis of the duplicated region and review of the literature suggest that gain-of-dosage of the CHD7 gene may be a good candidate for the main clinical features of the syndrome. (biomedcentral.com)
- Here we report on a further child who carries a de novo 4.2 Mb duplication of the region 8q12.1-q12.3 presenting with developmental delay, dysmorphic features, and type 3 Duane anomaly in order to refine the clinical presentation of the 8q12 microduplication syndrome and to contribute to genotype-phenotype correlation. (biomedcentral.com)
- Introduction: Deletion syndromes are rare events in clinical practice. (bvsalud.org)
Deletion2
- Bleeding Severity and Phenotype in 22q11.2 Deletion Syndrome-A Cross-Sectional Investigation. (harvard.edu)
- Failed Progenitor Specification Underlies the Cardiopharyngeal Phenotypes in a Zebrafish Model of 22q11.2 Deletion Syndrome. (harvard.edu)
Anomaly1
- renal anomaly. (nih.gov)
Hereditary1
- Gorlin RJToriello HVCohen MM Hereditary Hearing Loss and Its Syndromes . (jamanetwork.com)
Gene1
- The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase. (lookformedical.com)
Defects2
- Hemifacial microsomia syndrome can include preauricular sinuses, facial nerve palsy, sensorineural hearing loss, microtia or anotia, cervical appendages containing cartilage, and other defects. (medscape.com)
- Duane retraction syndrome (DRS) is a highly heterogeneous eye-movement disorder that in a quarter to half of cases is associated with additional congenital defects and/or genetic syndromes [ 5 ]. (biomedcentral.com)
Chromosomal1
- Genetic or chromosomal testing if syndrome suspected. (cdc.gov)
Mutation2
- Some people with BOR/BO syndrome do not have an identified mutation in any of the genes listed above. (medlineplus.gov)
- Heathcote KSyrris PCarter NDPatton MA A connexin-26 mutation causes a syndrome of sensorineural hearing loss in palmoplantar hyperkeratosis. (jamanetwork.com)
Hearing1
- Genetic hearing loss may appear as an isolated finding or as part of a syndrome. (medscape.com)
Abnormal2
- Abnormal features of Noonan syndrome at the age of 3 months: Note the eyebrow slant and left-side eyelid dropping. (handwiki.org)
- Abnormal features of Noonan syndrome at the age of 3 months: Note the low-set, posteriorly rotated, and abnormally formed ear. (handwiki.org)
ADPKD1
- This usually presents at an earlier age than ADPKD and progresses to renal failure in a shorter time. (brainkart.com)
Phenotype1
- Although more cases are needed to delineate the full-blown phenotype of 8q12 duplication syndrome, published data and present observations suggest that it results in a clinically recognizable phenotype. (biomedcentral.com)
Developmental2
- In addition, variable developmental problems and schizoid features are also associated with this syndrome. (harvard.edu)
- This abnormality is associated with a number of genetic syndromes and often with developmental delays. (msdmanuals.com)
Disease1
- The disease may then be termed "branchio-oto syndrome" (BO syndrome). (wikipedia.org)