New Born Screening of Hemoglobinopathies in a Center Tunisian Population.

Sickle cell diseases, β-thalassemia, and other hemoglobinopathies are common in Africa. Their distribution differs from one region to another. There are higher frequencies in Western and Northern Africa.

Disorders of sex development in Wolf-Hirschhorn syndrome: a genotype-phenotype correlation and MSX1 as candidate gene.

Background: Wolf-Hirschhorn (WHS) is a set of congenital physical anomalies and mental retardation associated with a partial deletion of the short arm of chromosome 4. To establish a genotype-phenotype correlation; we carried out a molecular cytogenetic analysis on two Tunisian WHS patients. Patient 1 was a boy of 1-year-old, presented a typical WHS phenotype while patient 2, is a boy of 2 days presented an hypospadias, a micropenis and a cryptorchidie in addition to the typical WHS phenotype.

Nonketotic Hyperglycinemia in Tunisia. Report upon a Series of 69 Patients.

Aim: The aim of the study is to report on epidemiological, clinical, and biochemical characteristics of nonketotic hyperglycinemia (NKH) in Tunisia.

Methods: Patients diagnosed with NKH in Laboratory of Biochemistry at Rabta hospital (Tunis, Tunisia) between 1999 and 2018 were included. Plasma and cerebrospinal fluid (CSF) free amino acids were assessed by ion exchange chromatography.

Molecular characterization of respiratory syncytial virus circulating in Tunisia between 2015 and 2018.

Respiratory syncytial virus (RSV) is the most frequently identified viral agent in children with lower respiratory tract infection (LRTI). No data are available to date regarding RSV genotypes circulating in Tunisia. The aim of the present study was to investigate the genetic variability of the glycoprotein G gene in Tunisian RSV strains.

Transported neonates in Tunisia.

Aims: To describe the transport of sick neonates to a tertiary care hospital and evaluate their condition at arrival and outcome.

Methods: A multicenter, prospective cohort study was performed in 7 NICUs in Tunisia from 1st april to 31 July 2015.Demographic parameters, transport details and clinical features at arrival were recorded.