Considerable progress has been made over the past decade identifying many genes associated with deafness. With the identification of these hereditary deafness genes and the proteins they encode, molecular elements of basic hearing mechanisms emerge. As functional studies of these molecular elements become available, we can put together the pieces of the puzzle and begin to reach an understandin...

Previous studies have linked GJB2 gene and mitochondrial DNA (mtDNA) mutations to nonsyndromic hearing impairment (NSHI), but no study in China has yet investigated these mutations across all age groups. To fill the gap, this study ascertained 263 patients with NSHI between ages 2 months and 60 years and analyzed the presence of GJB2 gene and mtDNA A1555G/C1494T mutations by polymerase chain re...

BACKGROUND Congenital sensorineural deafness (CSD) occurs in Border Collies, but its prevalence and inheritance are unknown. This study estimated the prevalence of CSD in Border Collies and investigated its association with phenotypic attributes linked to the merle gene, including coat pigmentation and iris color. HYPOTHESIS Deafness in Border Collies is associated with pigmentation patterns ...

A 31-year-old male patient presented with progressive mixed hearing loss since birth. A stapedectomy was attempted and was unsuccessful because of perilymph gushing. CT of the temporal bones showed bulbous dilatation of the fundi of the internal auditory canals and absence of the bone plates separating them from the base of the cochleas. This unusual abnormality was found after the attempted st...

BRAIN STRUCTURE IN RELATION TO THE MIND RICHfARD J A. f'ERY 9 TUMOURS OF THE BRAIN ASSOCIATED WITH NIARKED PLEOCYTOSIS IN THE CEREBROSPINAL FLUID H. HOUSTON MIERRITT A.-D MERRILL MIOORE 11s MIENTAL CHANGES ASSOCIATED W7ITH PERNICIOUS ANtEMIA A. PINEY 127 A CASE OF PARTIAL DEAFNESS SINIULATING CONGENITAL AUDITORY INIPERCEPTION E. \I1LI)RED CREAK 133 THE LESIONS PRODUCED IN THE BRAIN OF RABBITS B...

LEOPARD syndrome (LS) is a congenital developmental disorder and is an acronym for multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness (1). These clinical features overlap those of Noonan syndrome (NS), and heterozygous germline PTPN11 mutations have been ident...

Johanson Blizzard syndrome (JBS) is a rare multi-system disorder characterized by congenital aplasia or hypoplasia of alae nasi, exocrine pancreatic insufficiency, hypothyroidism, deafness, growth retardation, varying degree of mental retardation, alopecia, wide open fontanels, anti-mongoloid slant, café-au-lait spots and absent of permanent teeth. We report a 3 months old male child having Joh...

S. Auvin, MD, PhD E. Lejay, MD C. Delanoe, MD I. Denjoy, MD J.-M. Lupoglazoff, MD, PhD J.-C. Mercier, MD, PhD L. Titomanlio, MD, PhD SECTION 1 A 4-year-old girl was seen in the pediatric emergency department because of a first generalized tonic-clonic seizure that occurred at school. The seizure was preceded by a sudden, prolonged attack of unconsciousness, lasted 5 minutes, and was followed by...

The past decade of research has provided compelling evidence that the ability toengage with music is a fundamental human trait, and its biological basis is increas-ingly scrutinized. In this endeavor, the detailed study of individuals who havesevere musical problems are particularly informative because these deficiencieshave neurogenetic underpinnings. Such a musical disorde...

Shah-Waardenburg syndrome (SWS) is a neurocristopathy and is characterized by Hirschsprung's disease (HD), deafness, and depigmentation of hairs, skin, and iris. Is a very rare congenital disorder with variable clinical expression. This report describes a 4-day-old male newborn with Waardenburg's syndrome associated with aganglionosis of the colon and terminal ileum, and review the relevant lit...