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Autosomal Recessive Deafness 46

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type DFNB


Presentation

  • Fifty-three loci have presently been reported. The 17 deafness forms for which the genes have been identified are presented.[ommbid.mhmedical.com]
  • 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]
  • However, if a change occurs in an egg or sperm, the change will be copied into all the cells of the baby's body causing a "genetic" condition that was not present in the family.[boystownhospital.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]
  • Página 51 - Selective IgA deficiency: presentation of 30 cases and a review of the literature. ‎ Página 188 - Dudding, BA, Gorlin, RJ, and Langer, LO: The oto-palato-digital syndrome.[books.google.es]
Pneumonia
  • This organism causes a type of pneumonia that can lead to the death of immunocompromised individuals. Pneumocystis proliferates extracellularly in the lung alveolus where lipids constitute a major part of lung surfactant.[books.google.com]
  • E. cloacae-producing Guiana-extended spectrum-5 (GES-5), K. pneumoniae-producing Imipenemase-1 (IMP-1), E. coli-producing Klebsiella pneumoniae-carbapenemase-2 (KPC-2), K. pneumonia-producing NDM-1, E. coli-producing oxacillinase-48 (OXA-48) and K. pneumonia-producing[docplayer.net]
Blurred Vision
  • Recurrent corneal erosions can cause discomfort or severe eye pain, an abnormal sensitivity to light (photophobia), blurred vision, and the sensation of a foreign body (such as dirt or an eyelash) in the eye.[rarediseases.org]
Hearing Impairment
  • Friedman, A Large Genome-Wide Association Study of Age-Related Hearing Impairment Using Electronic Health Records, PLOS Genetics, 12, 10, (e1006371), (2016).[doi.org]
  • Molecular genetics applied to clinical practice: The Cx26 hearing impairment. British Journal of Audiology. 1999; 33:291-295. 22. Ram Shankar M, Girirajan S, Dagan O, et al.[degruyter.com]
  • GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairment, J. Genet 88 (2009) 267–272. . M. Tekin, X.J. Xia, R. Erdenetungalag, F.B. Cengiz.[sciencepubco.com]
  • Pediatrics 1999, 103, 3:546 Back to top Del Castillo et al 2002 A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.[davinci.crg.es]
  • […] mutations in a large North American repository of deaf probands. [ PMID 14985372 ] A genotype-phenotype correlation for GJB2 (connexin 26) deafness. [ PMID 15967879 ] GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired[snpedia.com]

Workup

  • Clinical Testing and Workup The diagnostic approach to confirming a suspected diagnosis of Alport syndrome has been evolving over the past decade.[rarediseases.org]

Treatment

  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • NP is best treated with a combination of multiple therapeutic approaches, and treatments include conservative, complementary, medical, interventional, and surgical treatment modalities.[citeulike.org]
  • Standard Therapies Treatment The treatment of Alport syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists.[rarediseases.org]
  • Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines.[orpha.net]
  • NDM may have further evolved as a result of the selection pressure imposed by chronic treatment with β-lactam, aminoglycoside and fluoroquinolone antibiotics as the mainstay of CF treatment.[docplayer.net]

Prognosis

  • Abstract Cardiac autonomic neuropathy (CAN) has been associated with a poor prognosis in patients with diabetes.[citeulike.org]

Etiology

  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Nowadays, rare studies have been carried out to investigate the genetic etiology of the genes associated with HS in Xinjiang Uyghur Autonomous region.[journals.lww.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]
  • Lafon, Etiologies rares de surdites congenitales. Arch.Fr.Pediat. 42 (1986) 503–506. Google Scholar Hu, D.-N., W.-Q. Qiu, B.-T. Wu et al., Genetic aspects of antibiotic induced deafness: Mitochondrial inheritance. J. Med.Genet. 28 (1991) 79–83.[link.springer.com]

Epidemiology

  • 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]
  • 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]
  • (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]
  • Genetic epidemiology of hearing impairment. Ann Acad Sci 1991;630:16–31. [3]. Marazita M, Ploughman L, Rawlings B, et al. Genetic epidemiological studies of early-onset deafness in the US school-age population. Am J Med Genet 1993;46:486–91. [4].[journals.lww.com]
  • Genetic epidemiological studies of early-onset deafness in the U.S. school age population. Am J Med Genet 1993;46:486-491. 14. Legge M., Fitzgerald RP.[nzma.org.nz]
Sex distribution
Age distribution

Pathophysiology

  • 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]
  • […] 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]

Prevention

  • Transplantation Substance Use and Addiction Surgery Surgical Innovation Surgical Pearls Teachable Moment Technology and Finance The Rational Clinical Examination Tobacco and e-Cigarettes Toxicology Trauma and Injury Treatment Adherence United States Preventive[jamanetwork.com]
  • 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]
  • These drugs are blood pressure medications that prevent (inhibit) an enzyme in the body from producing angiotensin II. Angiotensin II is a chemical that acts to narrow blood vessels and can raise blood pressure.[rarediseases.org]

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