Incidence of congenital CMV in children at a hearing rehabilitation center.

OBJECTIVE: To evaluate the incidence of children with congenital CMV (cCMV) infection in a hearing rehabilitation center. METHODOLOGY: This was a retrospective review of 309 children followed in a rehabilitation center for mild to total sensorineural hearing loss (SNHL). Seventy-five children had dried blood spots that we retrieved and retrospectively analyzed for the presence of CMV DNA by real time PCR. The children were born in Belgium after January 1996. The etiology of the SNHL was investigated for each child. RESULTS: The CMV DNA was detected in the dried blood spots for 8 of the 75 children tested (10.6%) by real time PCR. In three children, an alternative etiology of SNHL was suspected before the cCMV infection was diagnosed. CONCLUSIONS: The incidence of children infected with cCMV in a hearing rehabilitation center is high (10.6%). The detection of CMV DNA in dried blood spots is useful and improves the etiological diagnosis of SNHL.

Clinical findings and PDS mutations in 15 patients with hearing loss and dilatation of the vestibular aqueduct.

Following systematic skull imaging of hundred and sixty seven individuals attending a medical referral centre for the deaf in Brussels, Belgium, fifteen patients (9 per cent) aged between two and 25 years were diagnosed with dilatation of the vestibular aqueduct. Careful audiological study, with a baseline assessment then longitudinal follow up, indicated mild to profound deafness with a progressive course (i.e. an average loss of 3.3 dB per year) and frequent dizziness. Sequencing of PDS was performed in all individuals. Alterations of this gene (either homozygous, heterozygous or compound heterozygous base changes) were found in 53 per cent of patients with a large vestibular aqueduct. Four new mutations (two missense, a splice site and a four base pair insertion) were described. We were unable to confirm a correlation between homozygosity, heterozygosity and a Pendred or deafness-only phenotype.

[Hearing screening of newborns. Preliminary results]. / Le dépistage auditif des nouveau-nés. Résultats préliminaires.

Since 1976, an hearing screening is organized at the Clinic Edith Cavell. The testing was based on a behavioral technique of Veit-Bizaguet and, since 2001, the otoacoustic emissions are realised. The National Institutes of Health (1993) recommends universal newborn hearing screening of all newborns before 3 months of age and identification and treatment before 6 months of age. Indeed, detection of hearing loss and early intervention allow a better access to the language and consequently an easier schooling and social integration. This article shows the results of the screening from february at the end of December 2002. These data are compared with those of the literature.

Mutaciones del gen del receptor 3 del factor de crecimiento de fibroblasto (FGFR3) en pacientes chilenos con talla baja idiopática, hipocondroplasia y acondroplasia / Mutations in the fibroblast growth factor receptor 3 gene (FGFR3) in chilean patients with idiopathic short stature, hypochondroplasia and achondroplasia

Background: Achondroplasia and hypochondroplasia are skeletal dysplasias of autosomal dominant inheritance that represent different degrees of severity of the same pathological entity. Both dysplasias are caused by mutations in the Fibroblast Growth Factor Receptor 3 (FGFR3) gene. In achondroplasia more than 95% of the cases studied to date carry the same mutation (G380R). Hypochondroplasia represents a greater clinical and genetic heterogeneity, possibly being confused with "idiopathic short stature". The N540K mutation has been detected in 50-70% of cases of hypochondroplasia and mutations at the 650 locus in approximately 2.8%. Aim: To assess the frequency of N540K and G380R mutations, and changes at the 650 locus in Chilean patients with idiopathic disproportionate short stature, hypochondroplasia and achondroplasia. Patients and Methods: We studied 21 patients referred for idiopathic short stature, 5 with clinically suspected hypochondroplasia and 4 with achondroplasia. The G1138A, G1138C (G380R), and C1620, C1620A (N540K) mutations and the nucleotide changes at the 650 locus were studied using PCR and restriction analysis of genomic DNA. Results: Three out of five hypochondroplasia patients were heterozygous for the N540K mutation. All of the 4 patients with achondroplasia presented the G1138A mutation. None of these mutations were found in patients with idiopathic short stature. Conclusion: Chilean patients with hypochondroplasia and achondroplasia have the same mutations described in other ethnic groups. The identification of mutations in 3 out of 5 patients with hypochondroplasia shows that this analysis is a useful tool for its diagnostic confirmation. In short stature the molecular study should only be indicated in those cases presenting other clinical and/or radiological features of hypochondroplasia (Rev Méd Chile 2003; 131: 1405-10).

Cirugía de la úlcera pilórica y pre-pilórica antes y después de la introducción de los bloqueadores H2 / Pyloric and prepyloric ulcer surgery before and after of the introduction of H2 blokers

Se compara la frecuencia de la cirugía de la úlcera gatroduodenal en dos períodos; uno antes (1984-1987) y otro después de la introducción de los bloqueadores H2 (1990-1993). Los resultados revelan una disminución global de un 29,9 por ciento, siendo más significativa en úlceras gástricas (54,6 por ciento). Las intervenciones de urgencia disminuyeron de 44 a 28 casos a expensas de la cirugía de la úlcera duodenal. La úlcera pilórica y prepilórica (UP y UPP) a diferencia de los otros tipos de úlcera mantienen su número de intervenciones y cuando son operados de urgencia, practicándoles sólo sutura, presentan una alta incidencia de reintervenciones por nueva perforación u obstrucción (41,6 por ciento). La morbimortalidad de la cirugía de la úlcera P y PP fue similar en ambos grupos

Fatal meningitis due to multi-resistant Haemophilus influenzae type b.

We report the case of a 3-month-old boy suffering from an acute bacterial meningitis due to a multi-resistant strain of Haemophilus influenzae type b. Also presented is our current strategy of treatment and chemoprophylaxis of Haemophilus influenzae meningitis in children.