Clinical description The majority of cases presenting at birth concern perceptive deafness (with a neurosensory origin associated with the inner ear) rather than conductive deafness (anomalies in the amplification of sound waves between the middle ear [orpha.net]

Fifty-three loci have presently been reported. The 17 deafness forms for which the genes have been identified are presented. [ommbid.mhmedical.com]

Otitis media without infection presents a special problem because symptoms of pain and fever are usually not present. Therefore, weeks and even months can go by before parents suspect a problem. [asha.org]

On the other hand, a negative result substantially reduces the likelihood that a syndrome is present, alleviating concerns about the future development of these features. [personalizedmedicine.partners.org]

GJB3 Deafness digenic GJB2/GJB6 Deafness neurosensory autosomal recessive 1 Non-syndromic neurosensory deafness autosomal recessive type 1 Non-syndromic sensorineural deafness autosomal recessive type 1 NSRD1 Keywords Any medical or genetic information present [uniprot.org]

• Fever

  At one extreme is a single short period of thin, clear, noninfected fluid without any pain or fever but with a slight decrease in hearing ability. [asha.org]

  […] populations across the world is very difficult because access to health care, poor health conditions, and a low level of awareness of hearing loss is compounded by a higher frequency of complicating risk factors such as neonatal distress, prematurity, high fever [emedicine.medscape.com]

  In Lebanon, consanguineous marriages are still frequent (from 10 to 30%), favouring the incidence of autosomal recessive diseases, 16 such as haemoglobinopathies, sickle cell anaemia, familial Mediterranean fever, congenital hypothyroidism, cystic fibrosis [jmg.bmj.com]

  Diabetes mellitus was discovered at 19 months of age when he was admitted for investigation of fever and a routine urinalysis showed glycosuria. At that time, his random blood sugar revealed a level of 14.3 mmol/L with no evidence of ketoacidosis. [annsaudimed.net]

  Muckle-Wells syndrome is characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis. X-linked nonsyndromic hearing loss X-linked hearing loss is relatively rare. [bredagenetics.com]

• Pathologist

  If your child has frequently recurring infections and/or chronic fluid in the middle ear, two additional specialists should be consulted: an audiologist and a speech-language pathologist. [asha.org]

  A team of professionals including audiologists, otorhinolaryngologists, infectious disease specialist, geneticist, genetic counselor, speech-language pathologist and developmental pediatrician evaluated these cases. [audiologyonline.com]

• Hearing Impairment

  […] recessive 1A Deafness, digenic, GJB2/GJB6 not provided Hearing impairment Nonsyndromic hearing loss and deafness Deafness, autosomal dominant 3a Bilateral sensorineural hearing impairment Severe sensorineural hearing impairment Bilateral conductive hearing [snpedia.com]

  Introduction The Hereditary Hearing loss Homepage aims to give an up-to-date overview of the genetics of hereditary hearing impairment for researchers and clinicians working in the field. [hereditaryhearingloss.org]

  Pollak et al. (2007) studied 233 Polish patients with hearing impairment and the GJB2 35delG mutation (121011.0005) on 1 allele. [catalog.coriell.org]

  Mutations in GJB2 account for about 50% of all congenital cases of hearing impairment. [karger.com]

• Progressive Hearing Loss

  (PMID: 16804542) Delmaghani S … Petit C (Nature genetics 2006) 2 3 4 60 A p.C343S missense mutation in PJVK causes progressive hearing loss. [genecards.org]

  Both children had evidence of progressive hearing loss requiring the use of hearing aids. [degruyter.com]

  Among the heterozygous group, 66.6% demonstrated a slowly progressive hearing loss, while 100% of the homozygous group demonstrated a rapidly progressing hearing loss (table 1 ). [karger.com]

  (hearing loss was progressive within one year of detecting it) versus slowly progressive hearing loss (hearing loss was progressive within years after detecting it). [ejo.eg.net]

  Mutations in TMPRSS3 can also cause progressive hearing loss with a postlingual onset [51]. TMPRSS3 mutation c.726C>G (p.Cys242Trp) in exon 8 affects the serine protease domain as predicted by 3D modeling. [journals.plos.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Case 1 Case 2 Father Mother Blood thiamine level (16–48) ng/ml before treatment 52 ng/ml 66 ng/ml 44 ng/ml 21 ng/ml during treatment 50 ng/ml 60 ng/ml Blood transketolase (0.75–1.30) IU/gHb before treatment 1.24 IU/gHb 1.19 IU/gHb 0.89 IU/gHb 1.08 IU/ [annsaudimed.net]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

A physician should handle the medical treatment. Ear infections require immediate attention, most likely from a pediatrician or otolaryngologist (ear doctor). [asha.org]

Thirty-six states now mandate universal screening of newborns resulting in earlier identification and treatment. Hereditary hearing loss may also be progressive or adult in onset. [emedicine.medscape.com]

Determining the etiology of hearing loss is important in determining prognosis (e.g. whether the severity of hearing impairment will worsen), optimal therapeutic interventions (e.g. hearing aids, cochlear implant, sign language) and recurrence risks to [personalizedmedicine.partners.org]

Screening to identify carriers, genetic counseling, and prenatal diagnosis can greatly reduce the rate of birth of affected infants and improve the prognosis of affected patients. [jpma.org.pk]

An important benefit of genetic testing is etiologic diagnosis of hearing loss (JCIH, 2007; ACMG, 2002). [audiologyonline.com]

Background Hearing loss has an incidence of 1 in 250 births and over half of isolated childhood hearing loss has a genetic etiology, with many genes involved. [personalizedmedicine.partners.org]

Repository NIGMS Human Genetic Cell Repository Subcollection Heritable Diseases Class Disorders of Uncertain Biochemical Etiology Quantity 0.050mg Quantitation Method Please see our FAQ Biopsy Source Peripheral vein Cell Type B-Lymphocyte Tissue Type [catalog.coriell.org]

Etiology To date, 86 causative genes for sensorineural deafness have been identified and localised and 37 of these genes have been cloned. Eleven of these genes have been implicated in both isolated and syndromic forms of deafness. [orpha.net]

Spinocerebellar ataxia type 7 Spinocerebellar ataxia type 8 Spinocerebellar ataxia with axonal neuropathy type 1 Spinocerebellar ataxia with axonal neuropathy type 2 Spinocerebellar ataxia-dysmorphism syndrome Sporadic adult-onset ataxia of unknown etiology [se-atlas.de]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.it]

From the molecular data presently available, three main epidemiologic results emerge: (a) Mutations in the gene encoding a gap junction protein, connexin 26, account for about half of the cases of prelingual isolated deafness in Caucasian populations; [ommbid.mhmedical.com]

Summary Epidemiology Between 1 in 1,000 and 1 in 700 children were born with profound or severe hearing loss. [orpha.net]

[…] heredity is not known. [9] Saunders et al demonstrated a prevalence of significant hearing loss of 18% in a group of school-aged children in rural Nicaragua with a familial history of hearing loss in 24% of the children with hearing loss. [8] Large-scale epidemiologic [emedicine.medscape.com]

Periodic surveillance is also important. [2] Epidemiology [ edit ] About 1 in 1,000 children in the United States is born with profound deafness. By age 9, about 3 in 1,000 children have hearing loss that affects the activities of daily living. [en.wikipedia.org]

Each form is introduced by a brief history of how the gene was discovered, followed by the description of its clinical features and the established or putative role of the encoded protein, as well as the current hypotheses concerning the associated pathophysiological [ommbid.mhmedical.com]

Current statistics can be found on the Early Hearing Detection & Intervention (EHDI) Program Web site published by the Centers for Disease Control and Prevention. [emedicine.medscape.com]

(Homepage) (Online) Available from URL: http://www.webhost.ua.ac.be/hhh/July2009. 10.Primary health care approaches for the prevention and control of congenital and genetic disorders: report of a WHO meeting, 1999 Dec 6-8, Cairo, Egypt. [jpma.org.pk]

With timely diagnosis, medical management for the cardiac issues can begin and prevent sudden death, which in most cases is the first sign of this condition (Schwartz et al., 2006). [audiologyonline.com]