Biotinidase deficiency: novel mutations in Algerian patients.

Biotinidase deficiency is an autosomal recessive disorder of biotin metabolism leading to varying degrees of neurologic and cutaneous symptoms when untreated. In the present study, we report the clinical features and the molecular investigation of biotinidase deficiency in four unrelated consanguineous Algerian families including five patients with profound biotinidase deficiency and one child characterized as partial biotinidase deficiency. Mutation analysis revealed three novel mutations, c.del631C and c.1557T>G within exon 4 and c.324-325insTA in exon 3. Since newborn screening is not available in Algeria, cascade screening in affected families would be very helpful to identify at risk individuals.

[Acute respiratory infections of viral origin in the children of Algiers, Algeria based on a seroepidemiological study]. / Les infections respiratoires aiguës d'origine virale chez les enfants à Alger--Algérie, à travers une étude séro-épidémiologique.

401 double serum samples from 0 to 14 year old children with acute respiratory diseases (ARD) were analysed in view to establish the viral etiology. 198 (49.4%) out of the 401 were positive. The syncytial respiratory virus (SRV) was the most frequent (29.8%) among the positives, followed by the parainfluenzae virus type 3 (24.7), the influenza A virus (23.7%), the parainfluenzae type 1 (8.5%), the influenza B (7%) and the parainfluenza type 2 (2%). Seven samples out of 109 were positive for adenovirus. The SRV infections were very frequent before one year of age and after six. The parainfluenza virus type 3 was found mostly during the second year of life and was different in this from the types 1 and 2 prevalent after the age of six. The SRV is responsible for subglottic ARD (73%), as well as the parainfluenza virus type 3 (68.5%), the influenza virus types A (69%) and B (61.5%). On the contrary, the parainfluenza viruses types 1 (70%) and 2 (67%) attacked especially the upper respiratory tract. Studies were also worked out on the effects of season, sex, antibiotherapy, as well as on the viruses most incriminated in hospitalization.

[Retrospective study of 56 congenital diaphragmatic hernias. Prognostic factors, therapeutic deductions]. / Etude rétrospective de 56 hernies diaphragmatiques à révélation néo-natale. Facteurs pronostiques, déductions thérapeutiques.

Fifty-six neonates were treated for congenital diaphragmatic hernia (48 left and 8 right) in our intensive care unit from 1972 to 1980. Because of the high mortality, we studied the factors which could predict the outcome. Early onset of symptoms (before the 2nd hour of life) and low post-ductal shunt (PAO2/FiO2 less then 15) after the 3rd postoperative hour appear to be signs of poor prognosis. Our present attitude is early surgical procedure, controlled ventilation with a FiO2 1 with Pancuronium, prevention of pneumothorax and different use of pulmonary arterial vasodilatators.