TAILIEUCHUNG - Chapter 030. Disorders of Smell, Taste, and Hearing (Part 8)

The contribution of genetics to presbycusis (see below) is also becoming better understood. In addition to GJB2, several other nonsyndromic genes are associated with hearing loss that progresses with age. Sensitivity to aminoglycoside ototoxicity can be maternally transmitted through a mitochondrial mutation. Susceptibility to noise-induced hearing loss may also be genetically determined. There are 400 syndromic forms of hearing loss. | Chapter 030. Disorders of Smell Taste and Hearing Part 8 The contribution of genetics to presbycusis see below is also becoming better understood. In addition to GJB2 several other nonsyndromic genes are associated with hearing loss that progresses with age. Sensitivity to aminoglycoside ototoxicity can be maternally transmitted through a mitochondrial mutation. Susceptibility to noise-induced hearing loss may also be genetically determined. There are 400 syndromic forms of hearing loss. These include Usher syndrome retinitis pigmentosa and hearing loss Waardenburg syndrome pigmentary abnormality and hearing loss Pendred syndrome thyroid organification defect and hearing loss Alport syndrome renal disease and hearing loss Jervell and Lange-Nielsen syndrome prolonged QT interval and hearing loss neurofibromatosis type 2 bilateral acoustic schwannoma and mitochondrial disorders mitochondrial encephalopathy lactic acidosis and stroke-like episodes MELAS myoclonic epilepsy and ragged red fibers MERRF progressive external ophthalmoplegia PEO Table 30-4 . Table 30-4 Syndromic Hereditary Hearing Impairment Genes Syndrome Gene Function Alport syndrome COL4A3- 5 Cytoskeletal protein BOR syndrome EYA1 Developmental gene SIX1 Developmental gene Jervell and Lange- Nielsen syndrome KVLQT1 KCNE1 Delayed rectifier K channel Delayed rectifier K channel Norrie disease Norrin Cell-cell interactions Pendred syndrome SLC26A4 Chloride iodide transporter Treacher Collins TCOF1 Nucleolar-cytoplasmic transport Usher syndrome MYO7A Cytoskeletal protein USH1C Unknown CDH23 Intercellular adherence protein PCDH15 Cell adhesion molecule SANS Harmonin associated .

• Y học thường thức
• Disorders of Smell
• Taste
• Hearing
• bệnh học và điều trị
• bài giảng bệnh học
• tài liệu học ngành y
• Harrisons Internal Medicine
• Taste disorders
• Smell and taste disorders
• Non neurodegenerative disorders
• Neurodegenerative chemosensory disorders
• Chemosensory disorders
• Medicolegal aspects
• Physiology of olfaction
• Anatomy and physiology of gustation
• Measurement of gustation
• Measurement of olfaction
• medical books
• pharmacology
• epidemiologic
• Obstetrics
• anatomy
• Preventing Morbidity
• Multidisciplinary Care