An acute febrile disease occurring predominately in Asia. It is characterized by fever, prostration, vomiting, hemorrhagic phenonema, shock, and renal failure. It is caused by any one of several closely related species of the genus Hantavirus. The most severe form is caused by HANTAAN VIRUS whose natural host is the rodent Apodemus agrarius. Milder forms are caused by SEOUL VIRUS and transmitted by the rodents Rattus rattus and R. norvegicus, and the PUUMALA VIRUS with transmission by Clethrionomys galreolus.
The type species of the genus HANTAVIRUS infecting the rodent Apodemus agrarius and humans who come in contact with it. It causes syndromes of hemorrhagic fever associated with vascular and especially renal pathology.
A genus of the family BUNYAVIRIDAE causing HANTAVIRUS INFECTIONS, first identified during the Korean war. Infection is found primarily in rodents and humans. Transmission does not appear to involve arthropods. HANTAAN VIRUS is the type species.
A species of HANTAVIRUS causing nephropathia epidemica, a mild form of HEMORRHAGIC FEVER WITH RENAL SYNDROME. It is found in most of Europe and especially in Finland, along with its carrier rodent, the bank vole (Clethrionomys glareolus).
Infections with viruses of the genus HANTAVIRUS. This is associated with at least four clinical syndromes: HEMORRHAGIC FEVER WITH RENAL SYNDROME caused by viruses of the Hantaan group; a milder form of HFRS caused by SEOUL VIRUS; nephropathia epidemica caused by PUUMALA VIRUS; and HANTAVIRUS PULMONARY SYNDROME caused by SIN NOMBRE VIRUS.
A characteristic symptom complex.
A subfamily in the family MURIDAE, comprising the Old World MICE and RATS.
A species of HANTAVIRUS causing a less severe form of HEMORRHAGIC FEVER WITH RENAL SYNDROME in Asia (primarily Korea and Japan). It is transmitted by rats, especially Rattus rattus and R. norvegicus.
Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe INTELLECTUAL DISABILITY; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of INTELLECTUAL DISABILITY. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild INTELLECTUAL DISABILITY to normal. Holoprosencephaly is associated with CHROMOSOME ABNORMALITIES.
Acute respiratory illness in humans caused by the Muerto Canyon virus whose primary rodent reservoir is the deer mouse Peromyscus maniculatus. First identified in the southwestern United States, this syndrome is characterized most commonly by fever, myalgias, headache, cough, and rapid respiratory failure.
A group of viral diseases of diverse etiology but having many similar clinical characteristics; increased capillary permeability, leukopenia, and thrombocytopenia are common to all. Hemorrhagic fevers are characterized by sudden onset, fever, headache, generalized myalgia, backache, conjunctivitis, and severe prostration, followed by various hemorrhagic symptoms. Hemorrhagic fever with kidney involvement is HEMORRHAGIC FEVER WITH RENAL SYNDROME.
Animate or inanimate sources which normally harbor disease-causing organisms and thus serve as potential sources of disease outbreaks. Reservoirs are distinguished from vectors (DISEASE VECTORS) and carriers, which are agents of disease transmission rather than continuing sources of potential disease outbreaks.
Bony structure of the mouth that holds the teeth. It consists of the MANDIBLE and the MAXILLA.
A subfamily of MURIDAE found nearly world-wide and consisting of about 20 genera. Voles, lemmings, and muskrats are members.
Montenegro was formerly part of the historic Kingdom of Yugoslavia. Following World War II, Montenegro was granted the status of a republic within YUGOSLAVIA. On May 21, 2006, the Republic of Montenegro held a successful referendum on independence and declared independence on June 3. The capital is Podgorica.
Created 7 April 1992 as a result of the division of Yugoslavia.
A region, of SOMITE development period, that contains a number of paired arches, each with a mesodermal core lined by ectoderm and endoderm on the two sides. In lower aquatic vertebrates, branchial arches develop into GILLS. In higher vertebrates, the arches forms outpouchings and develop into structures of the head and neck. Separating the arches are the branchial clefts or grooves.
A country spanning from central Asia to the Pacific Ocean.
Diseases of rodents of the order RODENTIA. This term includes diseases of Sciuridae (squirrels), Geomyidae (gophers), Heteromyidae (pouched mice), Castoridae (beavers), Cricetidae (rats and mice), Muridae (Old World rats and mice), Erethizontidae (porcupines), and Caviidae (guinea pigs).
A mammalian order which consists of 29 families and many genera.
The anterior subdivision of the embryonic PROSENCEPHALON or the corresponding part of the adult prosencephalon that includes the cerebrum and associated structures.
'Dental pulp calcification' is a pathological condition characterized by the deposition of hard tissue within the pulp chamber and root canal(s), which can result in the obliteration of pulpal space, potentially leading to various clinical symptoms such as pain or dental sensitivity.
Immunoglobulins produced in response to VIRAL ANTIGENS.
A family of the order Rodentia containing 250 genera including the two genera Mus (MICE) and Rattus (RATS), from which the laboratory inbred strains are developed. The fifteen subfamilies are SIGMODONTINAE (New World mice and rats), CRICETINAE, Spalacinae, Myospalacinae, Lophiomyinae, ARVICOLINAE, Platacanthomyinae, Nesomyinae, Otomyinae, Rhizomyinae, GERBILLINAE, Dendromurinae, Cricetomyinae, MURINAE (Old World mice and rats), and Hydromyinae.
A species of HANTAVIRUS which emerged in the Four Corners area of the United States in 1993. It causes a serious, often fatal pulmonary illness (HANTAVIRUS PULMONARY SYNDROME) in humans. Transmission is by inhaling aerosolized rodent secretions that contain virus particles, carried especially by deer mice (PEROMYSCUS maniculatus) and pinyon mice (P. truei).
Viral proteins found in either the NUCLEOCAPSID or the viral core (VIRAL CORE PROTEINS).
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)
Created 7 April 1992 as a result of the division of Yugoslavia.
Expectoration or spitting of blood originating from any part of the RESPIRATORY TRACT, usually from hemorrhage in the lung parenchyma (PULMONARY ALVEOLI) and the BRONCHIAL ARTERIES.
The longterm manifestations of WEATHER. (McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed)
Water particles that fall from the ATMOSPHERE.
Invertebrates or non-human vertebrates which transmit infective organisms from one host to another.
Divisions of the year according to some regularly recurrent phenomena usually astronomical or climatic. (From McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed)
A CELL LINE derived from the kidney of the African green (vervet) monkey, (CERCOPITHECUS AETHIOPS) used primarily in virus replication studies and plaque assays.
Substances elaborated by viruses that have antigenic activity.
A species of CERCOPITHECUS containing three subspecies: C. tantalus, C. pygerythrus, and C. sabeus. They are found in the forests and savannah of Africa. The African green monkey (C. pygerythrus) is the natural host of SIMIAN IMMUNODEFICIENCY VIRUS and is used in AIDS research.
Viruses whose genetic material is RNA.
An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)
Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)
An enzyme group that specifically dephosphorylates phosphotyrosyl residues in selected proteins. Together with PROTEIN-TYROSINE KINASE, it regulates tyrosine phosphorylation and dephosphorylation in cellular signal transduction and may play a role in cell growth control and carcinogenesis.
The outer part of the hearing system of the body. It includes the shell-like EAR AURICLE which collects sound, and the EXTERNAL EAR CANAL, the TYMPANIC MEMBRANE, and the EXTERNAL EAR CARTILAGES.
The hearing and equilibrium system of the body. It consists of three parts: the EXTERNAL EAR, the MIDDLE EAR, and the INNER EAR. Sound waves are transmitted through this organ where vibration is transduced to nerve signals that pass through the ACOUSTIC NERVE to the CENTRAL NERVOUS SYSTEM. The inner ear also contains the vestibular organ that maintains equilibrium by transducing signals to the VESTIBULAR NERVE.
Proteins and peptides that are involved in SIGNAL TRANSDUCTION within the cell. Included here are peptides and proteins that regulate the activity of TRANSCRIPTION FACTORS and cellular processes in response to signals from CELL SURFACE RECEPTORS. Intracellular signaling peptide and proteins may be part of an enzymatic signaling cascade or act through binding to and modifying the action of other signaling factors.
The shell-like structure projects like a little wing (pinna) from the side of the head. Ear auricles collect sound from the environment.

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).

The disease may then be termed "branchio-oto syndrome" (BO syndrome). The cause of branchio-oto-renal syndrome are mutations in ... Lachiewicz Sibley syndrome Branchio-oculo-facial syndrome "Branchio Oto Renal Syndrome". NORD (National Organization for Rare ... It is also known as Melnick-Fraser syndrome. The signs and symptoms of branchio-oto-renal syndrome are consistent with ... The treatment of branchio-oto-renal syndrome is done per each affected area (or organ). For example, a person with hearing ...
Defects in this gene are a cause of Townes-Brocks syndrome (TBS) as well as branchio-oto-renal syndrome (BOR). Two transcript ... Engels S, Kohlhase J, McGaughran J (Jun 2000). "A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype". Journal ... GeneReviews/NCBI/NIH/UW entry on Townes-Brocks Syndrome Nishinakamura R, Takasato M (Nov 2005). "Essential roles of Sall1 in ... Surka WS, Kohlhase J, Neunert CE, Schneider DS, Proud VK (Aug 2001). "Unique family with Townes-Brocks syndrome, SALL1 mutation ...
Unlike branchio-oto-renal (BOR) syndrome, Lachiewicz-Sibley syndrome is characterized by only preauricular pitting and renal ... Branchio-oto-renal syndrome Lachiewicz AM, Sibley R, Michael AF (June 1985). "Hereditary renal disease and preauricular pits: ... Lachiewicz-Sibley syndrome is a rare autosomal dominant disorder characterized by preauricular pits and renal disease. Persons ... Persons with BOR syndrome also present with hearing loss, branchial fistulas or cysts, malformed ears, and lacrimal stenosis. ...
"Transcription Factor SIX5 Is Mutated in Patients with Branchio-Oto-Renal Syndrome". Am. J. Hum. Genet. 80 (4): 800-4. doi: ...
... a sporadic patient supports splitting from the branchio-oto-renal syndrome". Journal of Medical Genetics. 32 (10): 816-818. doi ... "Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism ... Otofaciocervical syndrome, also known as Fara Chlupackova syndrome, are a small group of rare developmental disorders of ... "Orphanet: Fara Chlupackova syndrome". Retrieved 2022-06-04. "OMIM Entry - # 166780 - OTOFACIOCERVICAL SYNDROME 1 ...
"SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes". Proceedings of the National Academy ... "SIX1 mutation associated with enlargement of the vestibular aqueduct in a patient with branchio-oto syndrome". The Laryngoscope ... "A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3". Journal of Medical Genetics. 40 (7): 515-9. doi: ... "Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome". Human Molecular Genetics. 10 (24): 2775-81. ...
... in syndromes) have been determined. The mutations in question occur at EYA1 or SIX1 genes (branchio-oto-renal syndrome). The ... Renal dysplasia can be a consequence of a genetic syndrome, which in turn may affect the digestive tract, nervous system, or ... Multicystic dysplastic kidney is a common type of renal cystic disease, and it is a cause of an abdominal mass in infants. When ... Multicystic Renal Dysplasia at eMedicine Multicystic Dysplastic Kidney Imaging at eMedicine Seseke, F. (2003). "Clinical ...
... lead to the renal abnormalities of BOR syndrome (branchio-oto-renal syndrome). Mesenchyme Metanephros Blastema Kidney ... 2004). "SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes". Proceedings of the National ... which bifurcates and coalesces as a result to form the renal pelvis, major and minor calyces and collecting ducts. Mutations in ...
It is often misdiagnosed as branchio-oto-renal syndrome because of their similarities in symptoms.[medical citation needed] The ... Genetic syndromes, Transcription factor deficiencies, Rare syndromes, Syndromes with intellectual disability, Syndromes with ... Branchio-oculo-facial syndrome (BOFS) is a disease that arises from a mutation in the TFAP2A gene. It is a rare autosomal ... "Branchio Oculo Facial Syndrome". National Organization for Rare Disorders (NORD). Retrieved 25 March 2019. (Articles with short ...
1999). "Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and ... 1998). "Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) ... 1998). "Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome". Hum. Mutat ... "A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene ...
Preauricular sinuses can be associated with other defects that are not visible, one example being branchio-oto-renal syndrome. ... In rare circumstances these pits may be seen in genetic conditions such as branchio-oto-renal syndrome; however these ... "Branchiootorenal syndrome". Genetic and Rare Diseases Information Center (GARD). Archived from the original on 2018-07-05. ... cited in Wang RY, Earl DL, Ruder RO, Graham JM (August 2001). "Syndromic ear anomalies and renal ultrasounds ...
... s can also occur in branchio-oto-renal syndrome, CHARGE syndrome and renal tubular acidosis. ... Hearing loss caused by large vestibular aqueduct syndrome is not inevitable, although people with the syndrome are at a much ... Some use the term enlarged vestibular aqueduct syndrome, but this is felt by others to be erroneous as it is a clinical finding ... When the endolymphatic duct and sac are larger than normal, as is the case in large vestibular aqueduct syndrome, endolymph is ...
However, if skin pits are found on both sides of the neck, then, branchio-oto-renal syndrome should be ruled out. Infection of ...
"A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene ...
"Impaired interactions between mouse Eyal harboring mutations found in patients with branchio-oto-renal syndrome and Six, Dach, ... Renal hypodysplasia (RHD) is characterized by small and/or disorganized kidneys following abnormal organogenesis. Double ... "Double homozygous missense mutations in DACH1 and BMP4 in a patient with bilateral cystic renal dysplasia". Nephrology, ...
B22 subunit of the NADH-ubiquinone oxidoreductase maps to the region of chromosome 8 involved in branchio-oto-renal syndrome". ...
The Mondini dysplasia can occur in cases of Pendred Syndrome and Branchio-oto-renal syndrome and in other syndromes, but can ...
... branchio-oto-renal (BOR) syndrome, and Fanconi anemia and other 'anus-hand-ear' syndromes. Although some symptoms can be life- ... Syndromes affecting the heart, Syndromes affecting hearing, Syndromes affecting the gastrointestinal tract). ... Townes-Brocks syndrome (TBS) is a rare genetic disease that has been described in approximately 200 cases in the published ... threatening, many people diagnosed with Townes-Brocks Syndrome live a normal lifespan. Rapini, Ronald P.; Bolognia, Jean L.; ...
Treacher Collins syndrome, branchio-oto-renal syndrome etc. Barotrauma, unequal air pressures in the external and middle ear. ... This can be an isolated phenomenon or can occur as part of a syndrome where development of the 1st and 2nd branchial arches is ...
... branchio-oto-renal syndrome MeSH C16.131.260.190 - cri du chat syndrome MeSH C16.131.260.210 - De Lange syndrome MeSH C16.131. ... branchio-oto-renal syndrome MeSH C16.320.180.190 - cri du chat syndrome MeSH C16.320.180.210 - De Lange syndrome MeSH C16.320. ... branchio-oto-renal syndrome MeSH C16.131.077.250 - Cockayne syndrome MeSH C16.131.077.262 - cri du chat syndrome MeSH C16.131. ... MeSH C16.131.077.065 - Alagille syndrome MeSH C16.131.077.095 - Angelman syndrome MeSH C16.131.077.112 - Bardet-Biedl syndrome ...
... discovered Branchio-Oto-Renal syndrome and ADPKD2 genes Henry Kunkel (1916-1983), US immunologist, created starch gel ... Richard E. Marshall (1933-2016), US paediatrician, Greig's syndrome I, Marshall-Smith syndrome John Maynard Smith (1920-2004), ... described Aase syndrome, expert on fetal alcohol syndrome John Abelson (born c. 1939), US biochemist, studies of machinery and ... Down syndrome Harold Varmus (born 1939), US Nobel Prize-winner for oncogenes, head of NIH Rajeev Kumar Varshney (born 1973), ...
Kallmann syndrome, branchio-oto-renal syndrome and others.[citation needed] The prevalence of unilateral renal agenesis in the ... Herlyn-Werner-Wunderlich syndrome is one such syndrome in which unilateral renal agenesis is combined with a blind hemivagina ... Up to 40% of women with a urogenital tract anomaly also have an associated renal tract anomaly. Adults with unilateral renal ... renal agenesis and other causes of oligohydramnios sequence have been linked to a number of other conditions and syndromes to ...
Pendred syndrome, branchio-oto-renal syndrome, CHARGE syndrome GATA2 deficiency, a grouping of several disorders caused by ... Stickler syndrome and Waardenburg syndrome, and (recessive) Pendred syndrome and Usher syndrome. Mitochondrial mutations ... There are 300 syndromes with related hearing loss, and each syndrome may have causative genes.[citation needed] Recessive, ... Abnormal development of the inner ear can occur in some genetic syndromes such as LAMM syndrome (labyrinthine aplasia, microtia ...
... syndrome Brainstem stroke syndrome Branchio-oculo-facial syndrome Branchio-oto-renal syndrome Bromism Brown's syndrome Brown- ... syndrome Wende-Bauckus syndrome Werner syndrome Wernicke-Korsakoff syndrome West syndrome Westerhof syndrome Wet lung syndrome ... syndrome Shone's syndrome Short anagen syndrome Short bowel syndrome short limb syndrome Short man syndrome Short QT syndrome ... syndrome Radial tunnel syndrome Rage syndrome Raghib syndrome Raine syndrome Ramos-Arroyo syndrome Ramsay Hunt syndrome type 1 ...
... arch syndrome X linked Branchio-oculo-facial syndrome Hing type Branchio-oculo-facial syndrome Branchio-oto-renal syndrome (BOR ... syndrome Bazopoulou-Kyrkanidou syndrome B-cell lymphomas Bd syndrome Beals syndrome Beardwell syndrome Bébé-Collodion syndrome ... Becker's nevus Beemer-Ertbruggen syndrome Beemer-Langer syndrome Behcet syndrome Behr syndrome Behrens-Baumann-Dust syndrome ... sclerosis Bamforth syndrome BANF acoustic neurinoma Bangstad syndrome Banki syndrome Bannayan-Zonana syndrome Banti's syndrome ...
The disease may then be termed "branchio-oto syndrome" (BO syndrome). The cause of branchio-oto-renal syndrome are mutations in ... Lachiewicz Sibley syndrome Branchio-oculo-facial syndrome "Branchio Oto Renal Syndrome". NORD (National Organization for Rare ... It is also known as Melnick-Fraser syndrome. The signs and symptoms of branchio-oto-renal syndrome are consistent with ... The treatment of branchio-oto-renal syndrome is done per each affected area (or organ). For example, a person with hearing ...
Branchio-oto-renal syndrome. Branchio-Oto-Renal (BOR) syndrome is the second most common type of autosomal dominant syndromic ... SIX1 mutations cause Branchio-Oto-Renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci U S A 2004; 101: ... Konig R, Fuchs S, Dukiet C . Branchio-oto-renal (BOR) syndrome: variable expressivity in a five-generation pedigree. Eur J ... Heimler A, Lieber E . Branchio-Oto-Renal syndrome: reduced penetrance and variable expressivity in four generations of a large ...
... syndrome is a condition that disrupts the development of tissues in the neck and causes malformations of the ears and kidneys. ... Branchio-oto-renal syndrome. Am J Med Genet A. 2007 Jul 15;143A(14):1671-8. doi: 10.1002/ajmg.a.31561. Citation on PubMed ... Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. Hum Mutat ... Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. Hum Mutat. 2004 Jun;23(6):582-9. ...
Alport syndrome. AD, AR, X linked. SNHL. Yes or no. Branchio-oto-renal syndrome ... AD for Waardenburg syndrome and Gernet syndrome, AR for Jervell Lange-Nielson syndrome and Winter syndrome, X-linked for Alport ... syndrome and Rosenberg syndrome). Others are sporadic (eg, cat-eye syndrome, Turner syndrome, Klinefelter syndrome). ... For many of these syndromes, good data about actual prevalences are difficult to find. The first few syndromes listed for each ...
Treacher Collins syndrome; branchio-oto-renal (BOR) syndrome; hemifacial microsomia syndrome; a syndrome consisting of facial ... and hearing loss together can be termed the Melnick-Fraser syndrome, also described as branchio-oto-renal (BOR) syndrome. A ... Jalil J, Basheer F, Shafique M. Branchio-oto-renal syndrome. J Coll Physicians Surg Pak. 2014 May. 24(5):367-8. [QxMD MEDLINE ... Novel EYA1 variants causing Branchio-oto-renal syndrome. Int J Pediatr Otorhinolaryngol. 2017 Jul. 98:59-63. [QxMD MEDLINE Link ...
Fraser cryptophthalmos syndrome, and branchio-oto-renal syndrome.. *Determine related anomalies in bilateral renal agenesis ( ... In practice, renal agenesis and renal aplasia might be indistinguishable. Renal hypoplasia is a congenitally small kidney ... Renal agenesis is a complete absence of one (unilateral) or both (bilateral) kidneys, whereas in renal aplasia the kidney has ... Bilateral renal agenesis should be considered in an infant with features of Potter sequence. Bilateral renal hypoplasia might ...
... branchio-oto-renal syndrome, Poland syndrome, and Down syndrome), but many others had significant dysmorphisms that were ... Branchio-oto-renal syndrome. J Am Acad Audiol. 1995 Jan. 6(1):103-10. [QxMD MEDLINE Link]. ... Children with Usher syndrome develop hearing loss, vestibular impairment, and visual impairment. Usher syndrome accounts for a ... Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3). Am J Med Genet. 1989 Aug. 33(4):505-7. [QxMD ...
Branchio-oto-renal syndrome: 1/40,000 (ORPHA:107).. *Usher syndrome: ORPHA: 1/30,000 (ORPHA:886). ... Some of the most frequent syndromes associated with sensorineural deafness and considered in the panel are, among others:. * ... These genetic entities can exclusively cause deafness or be part of syndromes with other non-auditory alterations. This service ...
Oto-facio-cervical syndrome (OFC); Branchiootic syndrome 1 (BOS1); Branchio-oto-renal syndrome (BOR) ... Contiguous gene deletion syndrome involving EYA1, including: ... Restless legs syndrome ( 29029846). *Serum uric acid levels ( ...
Many renal abnormalities are inherited. Recognition of these is important, not only in terms of diagnosis and treatment of the ... Neurofibromatosis: neurofibroma, renal artery stenosis; therefore, BP should be monitored.. · Branchio-oto-renal syndrome ... Bardet-Biedl syndrome: obesity, polydactyly, mental retardation, retinitis pigmentosa, hypogenitalism, renal anomalies commonly ... Nephronophthisis: polyuria, polydipsia, tubulopathy and childhood onset renal failure.. · Primary hyperoxaluria: (renal calculi ...
22q11 Deletion Syndrome. *Angelman Syndrome. *Beckwith-Wiedemann Syndrome. *Branchio-Oto-Renal Syndrome ... It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and ... "22q11 Deletion Syndrome" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical ... Malformations of the middle and inner ear on CT imaging in 22q11 deletion syndrome. Am J Med Genet A. 2016 11; 170(11):2975- ...
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc. Natl. Acad. Sci. USA ... Impaired interactions between mouse Eya1 harboring mutations found in patients with branchio-oto-renal syndrome and Six, Dach, ...
Branchio-Oto-Renal syndrome is a condition that affects the ear, nose, and throat ... The following are among the most frequent hearing loss syndromes. *Alports disease ...
... of Branchio-otic/Branchio-oto-renal syndrome (BOR) patients, who are characterized by variable craniofacial, otic and renal ... Branchio-oto-renal syndrome (BOR) is a disorder characterized by hearing loss, and craniofacial and/or renal defects. Variants ... Several single-nucleotide mutations in SIX1 underlie branchio-otic/branchio-oto-renal (BOR) syndrome, but the clinical ... Mutations in SIX1 Associated with Branchio-oto-Renal Syndrome (BOR) Differentially Affect Otic Expression of Putative Target ...
BOR SYNDROME (BRANCHIO-OTO-RENAL) Panel. Spain. By Laboratorio de Genetica Clinica SL BOR SYNDROME (BRANCHIO-OTO-RENAL) that ... Branchio-Oto-Renal (BOR) Syndrome Panel Panel. Finland. By Blueprint Genetics Branchio-Oto-Renal (BOR) Syndrome Panel that also ... Renal Dysplasia, Renal Agenesia, CAKUT Panel Panel. Germany. By CeGaT GmbH Renal Dysplasia, Renal Agenesia, CAKUT Panel that ... BOR SYNDROME. Alternate names. BOR SYNDROME Is also known as melnick-fraser syndrome, branchiootorenal syndrome, ...
This and other congenital ear malformations are sometimes associated with renal anomalies such as branchio-oto-renal syndrome. ...
An Important Radiological Marker in Branchio Oto-renal and Pendreds Syndrome (2007); Asian Journal of Ear Nose and Throat (ENT ... Palaniappan R. "Peripheral vestibular dysfunction in ME syndrome", Electronic Publication - abstract in the BAAP web site. ... Palaniappan R, Sirimanna T. Peripheral vestibular dysfunction in Chronic Fatigue Syndrome; International Journal of Paediatric ...
Down syndrome, Turner syndrome, Treacher Collins syndrome, Goldenhar syndrome, Cornelia de Lange syndrome, branchio-oto-renal ... Hearing loss associated with renal disease (Alport syndrome, Branchio-Oto-Renal syndrome) - Hearing loss syndromes are often ... Waardenburg syndromes 1-4, branchio-oto-renal (BOR) syndrome, and CHARGE syndrome. All of these syndromes have current ... undergo renal ultrasonography to evaluate for anomalies associated with Branchio-Oto-Renal syndrome. Renal anomalies vary in ...
Werner-Wunderlich syndrome ... Kallmann syndrome, branchio-oto-renal syndrome and others.[citation needed] The prevalence of ... Syndrome, Werner. Syndrome, Werners. Syndrome, Werners. Werners Syndrome. Werners Syndrome. Tree number(s):. C16.320.925. ... ... Werner SyndromeSyndromeAging, PrematureProgeriaBloom SyndromeRothmund-Thomson SyndromeGenomic InstabilityDown SyndromeMetabolic ... such as Werner syndrome (WS), Bloom syndrome (BS), Rothmund-Thomson syndromes (RTS) and ... Werner syndrome (WS) Bloom syndrome ...
... kidney anomalies with ear pits in branchio-oto-renal syndrome). The rate of kidney anomalies is increased in people with ear ... They may involve only a single, specific site (eg, cleft lip, cleft palate, clubfoot) or be part of a syndrome of multiple... ... This abnormality is associated with a number of genetic syndromes and often with developmental delays. ... This child has low-set ears and other facial characteristics of r(18) syndrome. ...
Branchio-oto syndrome (BOS)/branchio-oto-renal syndrome (BORS) is a kind of autosomal dominant heterogeneous disorder. These ... Genetic research progress in branchio-oto syndrome/ branchio-oto-renal syndrome / 中南大学学报(医学版) ... Humans , Branchio-Oto-Renal Syndrome/pathology , Chromosome Deletion , Comparative Genomic Hybridization , Genetic Research , ... Humans , Infant, Newborn , Infant , DiGeorge Syndrome/diagnosis , DiGeorge Syndrome/genetics , Heart Defects, Congenital/ ...
Bloom Syndrome * Branchio-Oto-Renal Syndrome [C16.131.077.208] Branchio-Oto-Renal Syndrome ... Osterreicher Syndrome Pelvic Horn Syndrome Syndrome, Nail-Patella Syndrome, Osterreicher Syndrome, Pelvic Horn Syndrome, Turner ... Osterreicher Syndrome. Pelvic Horn Syndrome. Syndrome, Nail-Patella. Syndrome, Osterreicher. Syndrome, Pelvic Horn. Syndrome, ... Nail-Patella Syndrome - Preferred Concept UI. M0014428. Scope note. A syndrome of multiple abnormalities characterized by the ...
These syndromes include Waardenburg, Usher, Alport, Jervell and Lange-Nielsen, Norrie, branchio-oto-renal, Stickler, Pendred, ... Most of these syndromes have substantial genetic heterogeneity, with 20 genes identified at the 28 loci involved in these 9 ... Gorlin RJToriello HVCohen MM Hereditary Hearing Loss and Its Syndromes. Oxford, England: Oxford University Press; 1995. ... Gorlin RJToriello HVCohen MM Hereditary Hearing Loss and Its Syndromes. Oxford, England: Oxford University Press; 1995. ...
Beckwith-Wiedemann Syndrome [C16.131.077.133] * Bloom Syndrome [C16.131.077.137] * Branchio-Oto-Renal Syndrome [C16.131.077.208 ... Netherton Syndrome Preferred Term Term UI T734370. Date02/02/2009. LexicalTag EPO. ThesaurusID ... Netherton Syndrome. Tree Number(s). C16.131.077.619. C16.131.831.512.400.705. C16.320.850.673. C16.614.492.400.705. C17.800. ... Netherton Syndrome Preferred Concept UI. M0529110. Scope Note. Rare autosomal recessive disease with variable expressions. ...
Branchio-Oto-Renal症候群 (Branchio-Oto-Renal Syndrome). 教材-單張 ... 威爾姆氏腫瘤、無虹膜、性器異常、智能障礙症候群(WAGR Syndrome). ... 克
22q11 Deletion Syndrome. *Angelman Syndrome. *Beckwith-Wiedemann Syndrome. *Branchio-Oto-Renal Syndrome ... "Angelman Syndrome" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical Subject ... A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and ... This graph shows the total number of publications written about "Angelman Syndrome" by people in this website by year, and ...
Basal Cell Nevus Syndrome. *Beckwith-Wiedemann Syndrome. *Bloom Syndrome. *Branchio-Oto-Renal Syndrome ... Phenotypes closely resemble MARFAN SYNDROME; Marfanoid craniosynostosis syndrome (Shprintzen-Goldberg syndrome); and EHLERS- ... "Loeys-Dietz Syndrome" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical ... This graph shows the total number of publications written about "Loeys-Dietz Syndrome" by people in this website by year, and ...
Beckwith-Wiedemann Syndrome. *Branchio-Oto-Renal Syndrome. *Cri-du-Chat Syndrome. *De Lange Syndrome ... "Sotos Syndrome" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical Subject ... This graph shows the total number of publications written about "Sotos Syndrome" by people in this website by year, and whether ... Congenital or postnatal overgrowth syndrome most often in height and occipitofrontal circumference with variable delayed motor ...
Beckwith-Wiedemann Syndrome [C16.131.260.080] * Branchio-Oto-Renal Syndrome [C16.131.260.090] * Cri-du-Chat Syndrome [C16.131. ... It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and ... It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and ... 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.. Terms. 22q11 Deletion Syndrome Preferred ...
  • Renal hypoplasia is a congenitally small kidney without dysplasia and can be bilateral or unilateral (see Fig. 33 ). (
  • Renal agenesis or hypoplasia is conclusively diagnosed only through direct assessment by abdominal ultrasound, CT or MRI scan, surgery, or autopsy. (
  • Bilateral renal hypoplasia might or might not be recognized after delivery, depending on the severity and degree of residual kidney function. (
  • 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). (
  • Determine related anomalies in bilateral renal agenesis (Potter sequence: abnormal facies, talipes [clubfoot] and other contractures, pulmonary hypoplasia). (
  • Agenesis and/or hypoplasia (unilateral renal agenesis with contralateral renal hypoplasia). (
  • 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). (
  • A syndrome of multiple abnormalities characterized by the absence or hypoplasia of the PATELLA and congenital nail dystrophy. (
  • 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). (
  • 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. (
  • Distinguish renal agenesis from other kidney anomalies (multicystic dysplasia and polycystic renal disease). (
  • Other anomalies of urinary tract (renal) or genital organs. (
  • Branchio-oto-renal syndrome Hearing loss, branchial arch defects, renal anomalies. (
  • 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. (
  • This and other congenital ear malformations are sometimes associated with renal anomalies such as branchio-oto-renal syndrome. (
  • 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). (
  • The rate of kidney anomalies is increased in people with ear pits, so renal ultrasonography should be considered. (
  • 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. (
  • In practice, renal agenesis and renal aplasia might be indistinguishable. (
  • Renal agenesis can be diagnosed or strongly suspected prenatally by ultrasound but should always be confirmed postnatally. (
  • Bilateral renal agenesis should be considered in an infant with features of Potter sequence. (
  • Bilateral renal agenesis is a lethal condition - the fetus may be stillborn or die shortly after delivery. (
  • renal problems include agenesis, ectopy, or obstruction. (
  • Branchiootic (BO) syndrome includes many of the same features as BOR syndrome, but affected individuals do not have kidney abnormalities. (
  • most people with BOR/BO syndrome have hearing loss and other ear abnormalities. (
  • BOR syndrome (but not BO syndrome) causes abnormalities of kidney structure and function. (
  • and a syndrome that includes preauricular sinuses, conductive deafness, commissural lip pits, and external ear abnormalities. (
  • Many renal abnormalities are inherited. (
  • It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. (
  • Abnormalities in gray matter microstructure in young adults with 22q11.2 deletion syndrome. (
  • A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. (
  • and renal and other abnormalities. (
  • This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY. (
  • Abnormalities in the limbs and extremities may occur in Noonan syndrome. (
  • Branchiootorenal (BOR) syndrome is a condition that disrupts the development of tissues in the neck and causes malformations of the ears and kidneys. (
  • 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. (
  • 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. (
  • 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. (
  • The epidemiology of branchio-oto-renal syndrome has it with a prevalence of 1/40,000 in Western countries. (
  • Researchers estimate that BOR/BO syndrome affects about 1 in 40,000 people. (
  • Branchio-oto-renal syndrome: 1/40,000 (ORPHA:107). (
  • Branchio-oto-renal syndrome (BOR) is an autosomal dominant genetic disorder involving the kidneys, ears, and neck. (
  • 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. (
  • 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. (
  • A novel autosomal dominant syndrome consisting of hypertelorism, punctal pits, preauricular sinus, and deafness (HPPD) located on 14q31 has been noted. (
  • 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. (
  • 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. (
  • Be sure not to confuse this condition with multicystic dysplastic kidney or multicystic renal dysplasia. (
  • The two conditions are otherwise so similar that researchers often consider them together (BOR/BO syndrome or branchiootorenal spectrum disorders). (
  • 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. (
  • 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). (
  • 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. (
  • Congenital or postnatal overgrowth syndrome most often in height and occipitofrontal circumference with variable delayed motor and cognitive development. (
  • 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). (
  • Mutations in three genes, EYA1 , SIX1 , and SIX5 , have been reported in people with BOR/BO syndrome. (
  • 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. (
  • Mutations in the NSD1 protein and its HAPLOINSUFFICIENCY are associated with the syndrome. (
  • A number of genetic mutations can result in Noonan syndrome. (
  • 22q11 Deletion Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (
  • 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome. (
  • 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. (
  • Below are the most recent publications written about "22q11 Deletion Syndrome" by people in Profiles. (
  • Frontal Hypoactivation During a Working Memory Task in Children With 22q11 Deletion Syndrome. (
  • medical citation needed] Diagnosis of BO syndrome or BOR syndrome is clinical, i.e. based on observing an appropriate combination of symptoms. (
  • More than 400 syndromes associated with hearing loss and other symptoms have been described, corresponding to 30% of cases of hereditary hearing loss. (
  • Bleeding Severity and Phenotype in 22q11.2 Deletion Syndrome-A Cross-Sectional Investigation. (
  • Failed Progenitor Specification Underlies the Cardiopharyngeal Phenotypes in a Zebrafish Model of 22q11.2 Deletion Syndrome. (
  • Introduction: Deletion syndromes are rare events in clinical practice. (
  • Gorlin RJToriello HVCohen MM Hereditary Hearing Loss and Its Syndromes . (
  • These genetic entities can exclusively cause deafness or be part of syndromes with other non-auditory alterations. (
  • The development of the ears and auditory system may be affected in people with Noonan's syndrome. (
  • Hemifacial microsomia syndrome can include preauricular sinuses, facial nerve palsy, sensorineural hearing loss, microtia or anotia, cervical appendages containing cartilage, and other defects. (
  • Usher syndrome (types 1, 2, 3). (
  • Usher syndrome: ORPHA: 1/30,000 (ORPHA:886). (
  • 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. (
  • Genetic or chromosomal testing if syndrome suspected. (
  • Some people with BOR/BO syndrome do not have an identified mutation in any of the genes listed above. (
  • Heathcote KSyrris PCarter NDPatton MA A connexin-26 mutation causes a syndrome of sensorineural hearing loss in palmoplantar hyperkeratosis. (
  • Abnormal features of Noonan syndrome at the age of 3 months: Note the eyebrow slant and left-side eyelid dropping. (
  • Abnormal features of Noonan syndrome at the age of 3 months: Note the low-set, posteriorly rotated, and abnormally formed ear. (
  • This usually presents at an earlier age than ADPKD and progresses to renal failure in a shorter time. (
  • The most common signs leading to the diagnosis of Noonan syndrome are unique facial characteristics and musculoskeletal features. (
  • They may involve only a single, specific site (eg, cleft lip, cleft palate, clubfoot) or be part of a syndrome of multiple. (
  • The disease may then be termed "branchio-oto syndrome" (BO syndrome). (
  • In some cases, end-stage renal disease (ESRD) develops later in life. (
  • In addition, variable developmental problems and schizoid features are also associated with this syndrome. (
  • This abnormality is associated with a number of genetic syndromes and often with developmental delays. (
  • A 12-year-old girl with Noonan syndrome, displaying typical webbed neck and double structural curve with rib deformity. (
  • The resulting genetic changes affect the development of organs and tissues before birth, which leads to the characteristic features of BOR/BO syndrome. (
  • Some of the characteristic features of Noonan syndrome include a large head with excess skin on the back of the neck, low hairline at the nape of the neck, high hairline at the front of the head, triangular face shape, broad forehead, and a short, webbed neck. (
  • In the eyes, hypertelorism (widely set eyes) is a defining characteristic, present in 95% of people with Noonan syndrome. (
  • Genetic hearing loss may appear as an isolated finding or as part of a syndrome. (