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 %). 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.

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. 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.

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. However, two epidemiological studies did not find an increased teratogenic risk for MMI. This multicenter case-control study compared the frequency of maternal hyperthyroidism treated with MMI during pregnancy, in children with choanal atresia (cases) and a control group randomly selected (three matched controls according to maternal age for each case). Mothers of cases (N = 61) and controls (N = 183) were interviewed for socio-demographic questions, obstetrical and genetic history, and exposure during pregnancy to different agents; specifically detailed information regarding hyperthyroidism and MMI intake was obtained. Prenatal exposure to maternal hyperthyroidism treated with MMI was identified in 10/61 cases (16.4%) compared to 2/183 (1.1%) in the control group (OR = 17.75; CI95% = 3.49-121.40). Cases and controls did not differ in their parental degree of education, paternal occupation, twinning, maternal parity, and other exposures during pregnancy. Facial features in exposed cases showed some similarities. Our data suggest that prenatal exposure to maternal hyperthyroidism treated with MMI is associated with choanal atresia. In addition, based on our cases and a critical literature review, we propose that the mother's disease might be the causal factor and not the MMI treatment.

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. In pediatrics, few studies have been published, and their results have been controversial. OBJECTIVE: To establish the diagnostic value of the visual analysis of the recorded nocturnal oximetry monitoring vs. the PSG. POPULATION: Children with clinical suspicion of OSAS secondary to ATH referred to PSG. Children with other associated diagnoses (myopathy, craniofacial malformations, etc.) were excluded. METHODS: 1) A visual analysis (using our own algorithm) of the oximetry recorded simultaneously with the PSG was performed; 2) the diagnostic value of the pulse oximetry vs. the PSG was established. Both tests were conducted in a blinded and random fashion by two doctors. RESULTS: A total of 167 PSGs were included; the PSG showed OSAS in 75 children and simple snoring in 92; 65 oximetries were considered pathological and in agreement with the PSG in relation to OSAS; 10 children with mild OSAS in the PSGs had normal oximetries. The recorded pulse oximetry showed a sensitivity of 86.6% and a specificity of 98.9% for detecting OSAS. CONCLUSIONS: The visual analysis of recorded pulse oximetry monitoring during sleep is highly useful for the diagnosis and management of these patients.

Monitoreo grabado de oximetría de pulso en niños con hipertrofia adenoidea/amigdalina: su utilidad en el diagnóstico del síndrome de apnea obstructiva del sueño / Pulse oximetry recording in children with adenotonsillar hypertrophy: usefulness in the diagnostic of obstructive sleep apnea syndrome

Introducción. El síndrome de apnea obstructiva del sueño (SAOS) es la consecuencia más grave de la hipertrofia adenoidea/amigdalina (HAA). El método diagnóstico de referencia es la polisomnografía nocturna con oximetría (PSG), pero se requiere un equipamiento costoso, gran consumo de tiempo, y un técnico y un médico especializados, lo que dificulta su realización. La grabación del monitoreo de oximetría durante el sueño podría servir como método diagnóstico. En pediatría se han publicado aislados trabajos con resultados contradictorios. Objetivo. Estimar el valor diagnóstico del análisis visual de la grabación del monitoreo de oximetría nocturna en relación con la PSG. Población. Niños con sospecha clínica de SAOS secundario a HAA derivados para realización de PSG. Se excluyeron los niños con otro diagnóstico asociado (miopatía, malformación craneofacial, etc.). Métodos. 1) Se realizó el análisis visual (según un algoritmo propio) de la oximetría grabada simultáneamente con la realización de la PSG; 2) se estimó el valor diagnóstico de esta en comparación con la PSG. Los análisis de ambos registros fueron efectuados a ciegas y en orden aleatorio por dos médicos. Resultados. Se incluyeron 167 PSG; 75 niños presentaban SAOS en la PSG y 92, ronquido simple; 65 oximetrías se consideraron patológicas y coincidieron con SAOS en la PSG; 10 niños con SAOS leve en la PSG presentaron una oximetría normal. La oximetría mostró una sensibilidad del 86,6% y una especificidad del 98,9% para detectar el síndrome. Conclusiones. El análisis del monitoreo grabado de oximetría durante el sueño resulta un elemento de gran utilidad para el diagnóstico y el tratamiento de este tipo de pacientes.

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. In pediatrics, few studies have been published, and their results have been controversial. Objective. To establish the diagnostic value of the visual analysis of the recorded nocturnal oximetry monitoring vs. the PSG. Population. Children with clinical suspicion of OSAS secondary to ATH referred to PSG. Children with other associated diagnoses (myopathy, craniofacial malformations, etc.) were excluded. Methods. 1) A visual analysis (using our own algorithm) of the oximetry recorded simultaneously with the PSG was performed; 2) the diagnostic value of the pulse oximetry vs. the PSG was established. Both tests were conducted in a blinded and random fashion by two doctors. Results. A total of 167 PSGs were included; the PSG showed OSAS in 75 children and simple snoring in 92; 65 oximetries were considered pathological and in agreement with the PSG in relation to OSAS; 10 children with mild OSAS in the PSGs had normal oximetries. The recorded pulse oximetry showed a sensitivity of 86.6% and a specificity of 98.9% for detecting OSAS. Conclusions. The visual analysis of recorded pulse oximetry monitoring during sleep is highly useful for the diagnosis and management of these patients.

Asociación de amoxicilina a dosis altas con sulbactam para el tratamiento de la otitis media aguda / Association of amoxicilin in high doses with sulbactam for AOM treatment

Se efectuó un estudio abierto multicéntrico para verficar la eficacia y tolerabilidad de la asociación amoxicilina 200 mg más sulbactam 50 mg por ml de suspensión(calculada como dosis de amoxicilina de 80-100 mg/kg/d)fraccionando la dosis diaria cada 12 horas,durante 10 días,para tratar la otitis media aguda(OMA)presumiblemente bacteriana.Se incorporaron 331 lactantes y niños(312 evaluables)con diagnóstico clínico y otomicroscópico(grados 2,3 y 4)de OMA.Fueron tratados en forma ambulatoria.La otodinia disminuyó desde 6,9ñ 0,07(inicio)a 3,09ñ 0,009 y 2,02ñ 0,06 al tercero y décimo día,respectivamente(P<0,001)la temperatura se redujo de 37,9ñ 0,04 grados C a 36,7ñ 0,02 grados c y a 36,5ñ 0,02 grados C(p < 0,001)en igual período.El puntaje otomicroscópico mejoró de 2,7 ñ 0,04a 1,35 ñ 0,06(día 3) y a 0,23 ñ0,18(día 10)(p<0,001)la evolución clínica fue igualmente favorable.Se realizaron 12 miringotomías con 10 cultivos positivos.Los gérmenes rescatados fueron H.influenzae,staphylococcus aureus,streptococcus pneumoniae,psedomonas spp,streptococcus coagulasa negativo y streptococcus beta hemolítico.76 pacientes presentaron 86 eventos adversos(alteraciones gastrointestinales,diarrea,heces blandas,etc)La eficacia y tolerabilidad se compararon con las obtenidas en un estudio previo similar,utilizando la misma combinación en diferente dosificación.Ambos resultaron superiores(p<0,01 prueba Z)En conclusión,la administración de amoxicilina más sulbactam,en la dosis y posología mencionadas,fue eficaz y segura para el tratamiento de la OMA presumiblemente bacteriana en niños

Correlación entre patología otorrinolaringológica y meningitis recurrente en el niño / Correlation between otorrhinolaryngological pathology and recurrent meningitis in children

Se realizó un estudio retrospectivo de 2.200 pacientes internados en el Sector de Meningitis del Hospital Pedro de Elizalde, en los últimos 11 años. Se hallaron 16 casos de meningitis recurrente, cifra considerablemente elevada teniendo en cuenta los pocos casos publicados en las estadísticas internacionales consultadas. Establecemos la diferencia conceptual entre reactivación, recidiva y recurrencia de las meningitis bacterianas. Se propone una clasificación etiológica inédita que abarca todas las posibles causas de meningitis recurrentes. Se establece además una relación germen-etiología que concuerda con las publicaciones extranjeras. De los 16 casos de miningitis recurrentes, un tercio tenían etiología otorrinolaringológica y el 50% quedaron con secuelas.

Actividad terapéutica de la asociación amoxicilina-sulbactam administrada cada 12 horas en niños con otitis media aguda: estudio multicéntrico / Therapeutic activity of the amoxicillin-sulbactam association adminstered every 12 hours in children with acute inflamation of the middle ear: multicentric study

La otitis media aguda (OMA) es motivo de consulta frecuente en la práctica pediátrica y otorrinolaringológica. Los antibióticos betalactámicos son agentes de elección para el tratamiento de la OMA de etiología bacteriana, pero la creciente aparición de cepas productoras de betalactamasas obliga a asociarlos con un inhibidor de las mismas. Objetivos: evaluar efectividad y tolerabilidad de amoxicilina + sulbactam, administrada cada 12 horas en lactantes y niños portadores de OMA de etiología presumiblemente bacteriana. Material y métodos: estudio abierto, multicéntrico. Los pacientes recibieron amoxicilina + sulbactam (50/50 mg/kg/d) en dosis repartida en dos tomas diarias durante 10 días. Se evaluó (días 1, 4, 10 y 40): otalgia, hipertermia, irritabilidad y otorrea. Se efectuó otomicroscopía; en casos necesarios miringotomía terapéutica y para rescate de gérmenes, y se controló la aparición de eventos adversos. Se determinó efectividad clínica y tolerabilidad. Resultados: siete centros incorporaron a 222 pacientes evaluables. En 41 se efectuó miringotomía, aislándose con mayor frecuencia S. pneumoniae, H. influenzae, y M. catarrhalis. Se produjo una reducción de la otalgia entre el día 0 y el 10, de 6.8 ñ 0.11 a 2.3 ñ 0.09 (p< 0.001), así como también una mejoría significativa de la curva térmica. Se presentaron eventos adversos en 76 pacientes, la mayoría vinculados al aparato digestivo, en todos los casos de intensidad leve a moderada. Al finalizar el periodo de tratamiento todos los pacientes se habían curado o mejorado clínicamente. Conclusiones: Amoxicilina/sulbactam en dosis fraccionada cada 12 horas fue eficaz y segura para el tratamiento de la OMA en niños.