Identification of four novel connexin 26 mutations in non-syndromic deaf patients: genotype-phenotype analysis in moderate cases.

This paper presents a mutation as well as a genotype-phenotype analysis of the GJB2 and GJB6 genes in 476 samples from non-syndromic unrelated Argentinean deaf patients (104 familial and 372 sporadic cases). Most of them were of prelingual onset (82 %) and 27 % were cochlear implanted. Variation of sequences was detected in 171 of the 474 patients (36 %).

Pulse oximetry recording in children with adenotonsillar hypertrophy: usefulness in the diagnostic of obstructive sleep apnea syndrome.

Introduction: Obstructive sleep apnea syndrome (OSAS) is the most serious consequence of adenotonsillar hypertrophy (ATH). The gold standard diagnostic method is polysomnography (PSG) with nocturnal oximetry, but it requires expensive equipment, the presence of a technician and a specialized doctor, and is very time consuming, making the procedure difficult. The recording of pulse oximetry monitoring during sleep may serve as a diagnostic approach.

GJB2 and GJB6 genes: molecular study and identification of novel GJB2 mutations in the hearing-impaired Argentinean population.

Mutations in the GJB2 gene are responsible for more than half of all cases of recessive non-syndromic deafness. This article presents a mutation analysis of the GJB2, GJB6, OTOF and MTRNR1 genes in 252 patients with sensorineural non-syndromic hearing loss. Thirty-one different mutations were identified in GJB2 and GJB6 in 86 of the 252 (34%) patients.

Choanal atresia associated with maternal hyperthyroidism treated with methimazole: a case-control study.

Thyrotoxicosis affects 0.2% of pregnant women and antithyroid drugs are the treatment of choice during pregnancy. Several case reports have suggested a relationship between the prenatal use of methimazole (MMI) and choanal atresia in the offspring.