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Nunez-Batalla F.,Hospital Universitario Central Of Asturias | Jaudenes-Casaubon C.,Confederacion Espanola de Familias de Personas Sordas FIAPAS | Sequi-Canet J.M.,Servicio de Pediatria | Vivanco-Allende A.,Hospital Universitario Central Of Asturias | Zubicaray-Ugarteche J.,Servicio de Otorrinolaringologia Infantil
Anales de Pediatria | Year: 2015

The latest scientific literature considers early diagnosis of deafness as key element to define the educational prognosis and inclusion of the deaf child, as advantage can be taken in the critical period of development (0-4 years).Highly significant differences exist between those deaf persons who have been stimulated early and those who have received late or inappropriate intervention.Early identification of late-onset disorders requires special attention and knowledge of all childcare professionals. Programs and additional actions beyond neonatal screening should be designed and planned in order to ensure that every child with a significant hearing loss is detected early.For this purpose, the Committee for the Early Detection of Deafness (CODEPEH) would like to highlight the need for continuous monitoring on the hearing health of children. And, for this reason, CODEPEH drafts the recommendations included in the present document. © 2015 Asociación Española de Pediatría.

Dalamon V.,Institute Investigaciones en Ingenieria Genetica y Biologia Molecular | Florencia Wernert M.,Institute Investigaciones en Ingenieria Genetica y Biologia Molecular | Lotersztein V.,Servicio de Genetica | Craig P.O.,Institute Quimica y Fisicoquimica Biologicas | And 6 more authors.
Molecular Biology Reports | Year: 2013

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 %). Overall, 43 different sequence variations were identified in GJB2 and GJB6. Four of them are reported for the first time in GJB2: c.233dupG, p.Ala78Ser, p.Val190Asp and p.Cys211Tyr. Mutations in GJB6 were detected in 3 % of patients [nine del(GJB6-D13S1830) and three del(GJB6-D13S1854)]. Of the 43 different variations identified in GJB2, 6 were polymorphisms and of the others, 10 (27 %) were truncating and 27 (73 %) were nontruncating. Patients with two truncating mutations had significantly worse hearing impairment than all other groups. Moderate phenotypes were observed in a group of patients carrying biallelic mutations (23 %). This work shows the high prevalence of GJB2 mutations in the Argentinean population and presents an analysis of moderate phenotypes in our cohort. © 2013 Springer Science+Business Media Dordrecht.

Dalamon V.,CONICET | Lotersztein V.,Servicio de Genetica | Lipovsek M.,CONICET | Francipane L.,Servicio de Genetica | And 5 more authors.
Audiology and Neurotology | Year: 2010

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. We describe for the first time two new mutations in GJB2: the missense mutation c.29 T>C (p.Leu10Pro) in the N terminal domain and c.326 G>T (p.Gly109Val) in the intracytoplasmic domain of connexin 26. This work shows the high prevalence of GJB2 mutations in the Argentinean population, with frequencies that are comparable to those of the Mediterranean area. Most important, it adds two novel GJB2 mutations to be taken into consideration in the genetic diagnosis of non-syndromic sensorineural hearing loss. Copyright © 2009 S. Karger AG, Basel.

Cuestas G.,Servicio de Otorrinolaringologia Infantil | Martinez J.C.,Servicio de Pediatria | Pena R.,Servicio de Terapia Intensiva | Razetti J.,Servicio de Otorrinolaringologia Infantil
Archivos Argentinos de Pediatria | Year: 2015

Fracture and migration of the tracheotomy tube in the tracheobronchial tree is an uncommon complication of tracheotomy. Early diagnosis and proper treatment are essential because of the potential risk of fatal respiratory obstruction. Diagnosis should be suspected in all tracheotomized children undergoing breathing difficulties. It is confirmed by chest x-ray and endoscopic examination. The recommended treatment includes the endoscopic removal of the aspirated cannula through the tracheal stoma. We describe the clinical presentation and the management of a broken tracheotomy tube which was presented as a foreign body in the airway of a 18-month-old child. Recommendations for tracheostomy care are listed.

Cuestas G.,Servicio de Otorrinolaringologia Infantil | Demarchi V.,Servicio de Otorrinolaringologia Infantil | Zanetta A.,Servicio de Otorrinolaringologia Infantil | Urquizo M.,Servicio de Cirugia Pediatrica | And 2 more authors.
Archivos Argentinos de Pediatria | Year: 2014

Aspiration is the passage of food content and endogenous secretions into the airway. Anatomical, neuromuscular or functional anomalies are among the major causes. The laryngeal cleft is a rare congenital anomaly that should be considered in the differential diagnosis of aspiration syndrome in neonates and infants. The main symptoms are stridor, recurrent respiratory infections and cyanotic crisis, cough and choking during feeding. The diagnosis is confirmed by endoscopic examination. The therapeutic behaviour will depend on the extent of the cleft, among other factors. We describe the clinical manifestations, diagnostic methods and treatment of an infant with this disease, and we emphasize the need for recognition of swallowing disorders in children in order to establish an accurate diagnosis and appropriate treatment to prevent and avoid malnutrition as well as a severe and potentially irreversible lung compromise.

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