Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0162671 (MELAS)
 587 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Significant advances were reported this year in our understanding of the association of lens opacities with neurofibromatosis type 2 and the genetics of the aniridia-Wilms' tumor association. The first successful surgical reattachment of detached retinas in patients with incontinentia pigmenti are reported. An important retrospective review of young adults with congenital rubella syndrome implies that the timing of infection during gestation is not related to the incidence of individual ocular conditions. The ophthalmic features of the MELAS syndrome, a mitochondrially inherited encephalomyopathy, are described. Cytogenetic techniques are utilized for the first time to investigate the association between conjunctival and uveal melanomas with the dysplastic nevus syndrome. Familial Duane's syndrome and urogenital abnormalities were associated with a bisatellited marker derived from chromosome 22. Finally, another case of the newly described association of microphthalmia, dermal aplasia, and sclerocornea (MIDAS syndrome) is reported.
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PMID:Ocular manifestations of genetic and developmental diseases. 1015 Aug 31

Congenital hearing loss is one of the most common birth defects worldwide, with around 1 in 500 people experiencing some form of severe hearing loss. While over 400 different syndromes involving hearing loss have been described, it is important to be familiar with a wide range of syndromes involving hearing loss so an early diagnosis can be made and early intervention can be pursued to maximize functional hearing and speech-language development in the setting of verbal communication. This review aims to describe the presentation and genetics for some of the most frequently occurring syndromes involving hearing loss, including neurofibromatosis type 2, branchio-oto-renal syndrome, Treacher Collins syndrome, Stickler syndrome, Waardenburg syndrome, Pendred syndrome, Jervell and Lange-Nielsen syndrome, Usher syndromes, Refsum disease, Alport syndrome, MELAS, and MERRF.
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PMID:Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics. 2944 Dec 14