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.

Impact of Music Therapy on Quality of Life in Children with Cancer.

Background: Music therapy (MT) is a non-pharmacological treatment increasingly used to reduce stress and anxiety in hospitalized children affected by cancers. The aim of this study was to evaluate the impact of MT on quality of life in children with cancer and determine its effect on cardiorespiratory rates.

Methods: We conducted a quasi-experimental study between 1 April and 31 August 2021 at Bechir Hamza children's Hospital in Tunis, including children treated for cancer.

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).

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.