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Autosomal Recessive Deafness 88

Autosomal Recessive Non-Syndromic Neurosensory Deafness Type DFNB


  • The presentation of basic science underlying clinical otorhinolaryngology has been expanded, and molecular mechanisms and genetics of disease are presented.[books.google.de]
  • Abstract To present a series of patients with bisphosphonate induced orbital inflammation, and to review the clinical presentation, radiological features, treatment options and outcomes.Methods: We present a multicentre, retrospective case series review[citeulike.org]
  • […] keratoderma Progressive Mild-to-severe hearing loss with childhood onset m.1555A G variant Stable Severe-to-profound hearing loss with variable age of onset May have predisposition to aminoglycoside ototoxicity No other anatomic defects are typically present[arupconsult.com]
  • Patients presenting with cholesteatoma involving the tympanic cavity (mesotympanum, epitympanum, protympanum and/or hypotympanum), wi ...[68.penitentiary.us]
  • Three brothers presented with bilateral and non-syndromal progressive deafness in early teenage. Their parents with normal hearing were cousins, and have four children including 3 sons and a daugh-ter with normal hearing.[webview.isho.jp]
  • New chapters in an expanded section on pediatric Otorhinolaryngology include Congenital Anomalies of the Mandible and Maxilla; Drooling, Dysphagia, and Aspiration; Congenital Anomalies of the Nose and Nasal Airway, Congenital Anomalies of the Larynx and[books.google.de]
  • Bone marrow aspirate and trephine biopsy were typical of tri-lineage myelodysplasia with evidence of dyserythropoiesis, dysgranulopoiesis and dysmegakaryopoiesis.[doctiktak.com]
  • Absence of pulmonary aspiration of sinus contents in patients with asthma and sinusitis. J Allergy Clin Immunol 1990; 86:82-8. ‎ Página 90 - El oído se compone de tres partes : el oído externo, el oído medio, y el oído interno. ‎[books.google.es]
  • Pierre Robin Syndrome (1) autosomal dominant (2) main features: cleft palate (50%), micrognathia, glossoptosis (3) mixed hearing loss, malformed auricles, mental retardation, hypoplastic mandible, aspiration is a common cause of death c.[ent.com.au]
  • New chapters in an expanded section on pediatric Otorhinolaryngology include Congenital Anomalies of the Mandible and Maxilla; Drooling, Dysphagia, and Aspiration; Congenital Anomalies of the Nose and Nasal Airway, Congenital Anomalies of the Larynx and[books.google.de]
  • METHODS Over 14 years, 34 patients with EB, previously evaluated with barium esophagogram for dysphagia, underwent balloon esophageal dilation. Under fluoroscopy, a ...[68.penitentiary.us]
  • Mohr-Tranebjaerg syndrome (DFN-1) Mohr-Tranebjaerg syndrome (DFN-1) is an X-linked recessive syndromic hearing loss characterized by postlingual sensorineural deafness in childhood followed by progressive dystonia, spasticity, dysphagia and optic atrophy[dizziness-and-balance.com]
  • New chapters in an expanded section on pediatric Otorhinolaryngology include Congenital Anomalies of the Mandible and Maxilla; Drooling, Dysphagia, and Aspiration; Congenital Anomalies of the Nose and Nasal Airway, Congenital Anomalies of the Larynx and[books.google.de]


  • The case of an 11-year-old girl with an objective tinnitus lasting from 1 year is herein presented, and the diagnostic workup performed in this unusual case is described. ...[68.penitentiary.us]


  • Apply the latest treatment options in pediatric care with new chapters on pediatric sleep disorders, pediatric infectious disease, and evaluation and management of the infant airway.[books.google.de]
  • NP is best treated with a combination of multiple therapeutic approaches, and treatments include conservative, complementary, medical, interventional, and surgical treatment modalities.[citeulike.org]
  • Semantic Scholar extracted view of "Asparaginase use for the treatment of acute lymphoblastic leukemia." by Pere Barba et al. ...[1ws.tatter.us]


  • However, specific information regarding long-term prognosis and risk factors for late mortality after CD34 cell-selected allo-HSCT is lacking.[1ws.tatter.us]
  • Chardot C, Carton M, Spire-Bendelac N, et al: Prognosis of biliary atresia in the era of liver transplantation: French national study from 1986 to 1996. Hepatology 1999;30:606–611.[karger.com]
  • "Mid-frequency sensorineural hearing loss: aetiology and prognosis." J Laryngol Otol 119 (7): 529-33. Steel KP. A new era in the genetics of deafness. NEJM 1998 Stojkovic and others.[dizziness-and-balance.com]
  • Renal complications with inflammatory AA amyloidosis, are quite frequent and are responsible for the poor prognosis of the disease in the absence of treatment. Form II (very rare) is characterized by the initial appearance of renal insufficiency.[slidelegend.com]


  • Etiology of their hearing impairment was suspected due to autosomal recessive transmission. Promontory testing revealed a sensory deafness in the cochlea because a sound sensation was obtained.[webview.isho.jp]
  • Suggestions regarding the possible etiology of the syndrome are advanced. Received November 20, 1956. Accepted January 11, 1957.[pediatrics.aappublications.org]
  • Deafness is influenced by both genetic and environmental factors, with inherited causes as the most prominent etiological factor in deafness in developed countries.[degruyter.com]
  • Genetic Counseling 19 (1), 15 , 2008 12 2008 Deafness on the island of Providencia--Colombia: Different etiology, different genetic counseling MC Lattig, N Gelvez, SL Plaza, G Tamayo, JI Uribe, I Salvatierra, ...[scholar.google.es]
  • AD--50%, AR--25% 2. may be altered by incomplete penetrance 3. unknown etiology--presume genetic cause (AD, AR, X-linked)--risk 1 in 1000 and 4. informing parents--must give estimate of overall risk 10%; varies with birth order (first child after affected[ent.com.au]


  • Genetic epidemiology of hearing impairment, Ann NY Acad Sci 630 (1991) 16–31. . M.L. Marazita, L.M.Ploughman, B.Rawlings. Genetic epidemiological studies of early- onset deafness in the US school-age population. Am J Med Genet 46 (1993) 486–491. .[sciencepubco.com]
  • Relevant External Links for GRXCR1 Genetic Association Database (GAD) GRXCR1 Human Genome Epidemiology (HuGE) Navigator GRXCR1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: GRXCR1 No data available for Genatlas for GRXCR1 Gene Homozygosity[genecards.org]
  • (BOR syndrome) Treacher Collins syndrome Stickler syndrome X-linked pattern Mohr-Tranebjaerg syndrome Mitochondrial syndromes (eg, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes [MELAS]) Autoimmune hearing loss Background Epidemiology[arupconsult.com]
  • […] 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]
  • Therefore, epidemiological evidence supports the hypothesis that there is a link between ARHL and dementia.[zdoc.site]
Sex distribution
Age distribution


  • (PMID: 25802247) Mori K … Usami S (The Annals of otology, rhinology, and laryngology 2015) 3 60 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.[genecards.org]
  • […] recessive; resulting from either two GJB6 deletions (rare) or one GJB6 deletion and one GJB2 variant on opposite chromosome Mitochondrial DNA – dominant maternal inheritance Hearing loss in some individuals with 1555A G variant is induced by aminoglycosides Pathophysiology[arupconsult.com]
  • Objective: The objective of the study is to investigate a possible contribution of diabetes and microvascular disease to the pathophysiology of BRONJ.[citeulike.org]
  • Fanconi analyzed its epidemiology and found that the virus was not transmitted by droplet infection, as previously assumed and his understanding of pathophysiologic connections culminated in his prediction that Down syndrome was due to a chromosomal abnormality[wikivisually.com]
  • The pathophysiology of CAPD is not fully understood, probably involves interhemispheric interaction and corpus callosum function.[zdoc.site]


  • 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]
  • Its mode of action is unknown but this molecule is able to inhibit attacks or prolong the intervals between them and also to prevent or delay the appearance of renal complications in 2/3 patients.[slidelegend.com]
  • […] as early as possible to prevent irreversible sequelae.[ncbi.nlm.nih.gov]
  • There is no approved treatment to prevent or halt diabetic neuropathy, and only symptomatic pain therapies, with variable efficacy, are available. New insights into the mechanisms leading to the development of diabetic neuropathy continue to ...[citeulike.org]
  • The aim of this paper is to focus on the new insights on epidemiological aspects, prevention, assessment and intervention strategies for older adults with HL who are at risk of developing dementia.[zdoc.site]

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