Autosomal recessive COL4A3/COL4A4 Muckle Wells Autosomal dominant CIAS1 Pyrin-like protein involved in apoptosis and inflammation Arthritis, abdominal pain and urticaria. Progressive deafness. Amyloidosis of AA type causing renal failure. [academic.oup.com]

(e.g. noise and ototoxic drugs, vascular risk factors) inducing oxidative stress pathways (including the “mitochondrial theory of ageing”) and inflammation; some of these mechanisms are common to neurodegenerative diseases including AD. [zdoc.site]

METHODS A case series of 27 patients with attic retraction pockets underwent endoscopic middle ear surgical procedures. Three kinds of tympanoplasty were ... [1tq.moult.us]

Many individuals report a feeling of unsteadiness, difficulty walking in the dark, on uneven ground or up and down steps and vertigo has been reported in some individuals although it is not present in all. [academic.oup.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]

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 ... [1tq.moult.us]

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 ... [1tq.moult.us]

DFNB76 affected individuals have onset of progressive high frequency hearing impairment between birth and 6 years of age. The hearing loss is severe at high frequencies by adulthood. [uniprot.org]

This site lists data and links for all known gene localizations and identifications for monogenic nonsyndromic hearing impairment. For syndromic hearing impairment, only a few of the most frequent monogenic forms are covered. [hereditaryhearingloss.org]

childhood-onset hearing impairment. [academic.oup.com]

impairment. 2 A linkage. .. [nejm.org]

X-Linked Nonsyndromic Hearing Impairment The genes implicated in X-linked nonsyndromic hearing impairment and their clinical manifestations are summarized in Table 6. [ncbi.nlm.nih.gov]

1997, Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am. J. ‎ [books.google.de]

Authors The Hereditary Hearing loss Homepage is maintained by Guy Van Camp, University of Antwerp [email protected] Richard Smith, University of Iowa [email protected] If you want something to be included, or if you have other comments or suggestions [hereditaryhearingloss.org]

Abstract Objective: Due to the fact that SLC26A4 has been suggested as the second cause of hearing loss (HL) in Iran as well as many other countries, obtaining more comprehensive information about SLC26A4 mutations can facilitate more efficient genetic [eprints.skums.ac.ir]

A locus contributing to the early onset, rapidly progressing hearing loss of A/J mice ( ahl4, age-related hearing loss 4) was reported to map to chromosome 10 in a region of conserved synteny to DFNB74, suggesting that ahl4 and DFNB74 may be due to mutations [ingentaconnect.com]

Our data seem to suggest that the observed reduction in GLS could be due to a segmental impairment of systolic function at apical level. [oatd.org]

There are very few disease-specific studies focusing on outcomes of umbilical cord blood transplantation for Philadelphia chromosome-positive acute lymphoblastic leukemia. [42v.posterior.us]