Congenital heart disease: Epidemiological, genetic and evolutive profil.

Introduction: Congenital heart disease is a heterogeneous group of malformations and one of the most common causes of mortality in children.

Aim: The aim of this study was to investigate the clinical, genetic and evolutive characteristics of congenital heart disease.

Methods: A retrospective, descriptive study was carried out between 2020 and 2023 at the pediatrics and neonatology department of Mongi Slim university hospital of Tunis.

[Not Available].

Helicobacter pylori infection is the most common infectious disease worldwide. It is associated with duodenal and gastric ulcer disease and the risk of gastric neoplasia. The management of helicobacter pylori infection currently represents a real challenge for clinicians, given the ever-increasing rate of resistance of Helicobacter pyolori to various antibiotics.

Turner syndrome: results of the first Tunisian study group on Turner syndrome (TuSGOT).

Objectives: Early diagnosis in Turner syndrome is desirable to optimize growth and puberty and yet, it is often made late. Here, we aim to identify age at diagnosis, clinical features at presentation and potential strategies to improve the care of TS girls.

Methods: Retrospective study, including patients from 14 care centers across Tunisia including neonatal and pediatric care units, adult endocrinology and genetics departments.

Neonatal-onset Progressive Familial Intrahepatic Cholestasis (PFIC): first molecular study in Tunisian patients.

Progressive familial intrahepatic is a heterogeneous group of rare autosomal recessive liver disorders. Neonatal onset is characteristic of the PFIC 1 and PFIC 2, which result from mutations in genes respectivelyATP8B1 and ABCB11. Four Tunisian patients, three of them with PFIC 2 and one with PFIC1, were described.

Urinary tract infection in the neonates: what radiologic investigations should we do?

Introduction: Urinary tract infection (UTI) is the most common bacterial infection in febrile newborns. The exact prevalence is difficult to determine.

Aim: To determine if renal ultrasound is sufficient in newborns diagnosed with urinary tract infection (UTI) or if they require a routine voiding cystourethrogram.

Preterm birth, mother psychological state and mother- infant bonding.

Background: The preterm birth represents a stressful situation that can lead to questions about the survival of the child and the possible consequences.

Aim: To examine the interactions between mothers and premature babies in the neonatal care unit (NCU) and assess the psychological state of the mothers.

Methods: Cross-sectional study conducted from March to May 2017 in the Department of Pediatrics and Neonatology of the Mongi Slim Hospital (Tunis, Tunisia).

Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study.

Background And Aims: An expanding number of monogenic defects have been identified as causative of severe forms of very early-onset inflammatory bowel diseases [VEO-IBD]. The present study aimed at defining how next-generation sequencing [NGS] methods can be used to improve identification of known molecular diagnosis and to adapt treatment.

Methods: A total of 207 children were recruited in 45 paediatric centres through an international collaborative network [ESPGHAN GENIUS working group] with a clinical presentation of severe VEO-IBD [n = 185] or an anamnesis suggestive of a monogenic disorder [n = 22].

Arg924X homozygous mutation in insulin receptor gene in a Tunisian patient with Donohue syndrome.

Donohue syndrome (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe growth retardation, hypertrichosis, and characteristic dysmorphic features. We describe a new case of Donohue syndrome born at 37 weeks' gestation of unrelated parents and presented with intra-uterine growth retardation, nipple hypertrophy, macropenis, distended abdomen, hirsutism and dysmorphic features. The clinical course showed failure to thrive, and episodes of alternating hypoglycemia and hyperglycemia.

Omenn syndrome: two case reports.

Omenn syndrome is a variant of combined severe immunodeficiency due to mutations in RAG genes. It is characterized by polymorph symptoms and lethal outcome. We report on two cases of Omenn syndrome.

Celiac disease in Tunisian children: a second screening study using a "new generation" rapid test.

This work aims to estimate celiac disease prevalence in school-children in the island of Djerba and assess rapid method feasibility for screening. We screened 2064 schoolchildren by a rapid method to detect IgA anti-tissue transglutaminase and IgA deficiency. Children with positive results were tested for IgA anti-transglutaminase and anti-endomysium by conventional tests.

Primary resistance to clarithromycin, metronidazole and amoxicillin of Helicobacter pylori isolated from Tunisian patients with peptic ulcers and gastritis: a prospective multicentre study.

Background: The frequency of primary resistance to antibiotics in H. pylori isolates is increasing worldwide. In Tunisia, there are limited data regarding the pattern of H.

Pneumococcal infection and hemolytic uremic syndrome.

Background: Hemolytic uremic syndrome, one of the common causes of acute renal failure in children, is characterized by the triad of microangiopathy, haemolytic anemia, thrombocytopenia and acute renal failure. The diarrhoea-associated Hemolytic uremic syndrome is usually termed as a typical Hemolytic uremic syndrome. Streptococcus pneumoniae is an uncommon etiological pathogen for inducing Hemolytic uremic syndrome, and Streptococcus pneumoniae associated Hemolytic uremic syndrome is also termed as atypical hemolytic uremic syndrome.

[The hydatid cyst of the lung in children: 54 cases].

The purpose of this retrospective study is to clarify the clinical, radiological and evolutionary aspects of the hydatid cyst of the lung. Over a period of 9 years (January, 1983 - December, 2001), we brought together in the pediatric service B of Children's hospital of Tunis, 54 cases of hydatid cyst of the lung. The average age is of 7 years 3 months (extremes 2 and 14 years), and the sex- ratio of 1,16.