Vitamin D status and VDR gene polymorphisms in patients with growth hormone deficiency: A case control Tunisian study.

Introduction: Growth Hormone Deficiency (GHD) is a rare disease marked by a complete or partial reduction in the production of growth hormone. Vitamin D deficiency is frequent and may be associated with several pathologies. However, the association between GHD and vitamin D deficiency has not been extensively studied.

Retrospective Analysis of Clinical Characteristics and Disease Outcomes in Children and Adolescents Hospitalized Due to COVID-19 Infection in Tunisia.

Due to low susceptibility of coronavirus disease of 2019 (COVID-19) in children, limited studies are available regarding COVID-19 in the pediatric population in Tunisia. The current study evaluated the incidence, clinical characteristics, and outcomes of severe acute respiratory syndrome coronavirus type 2 (SARS-CoV-2) infection among children hospitalized at Béchir Hamza Children's Hospital. A retrospective cohort analysis was conducted using the hospital database between March 2020 and February 2022 with children aged ≤15 years with SARS-CoV-2 infection (confirmed by RT-PCR).

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.

SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.

Upregulated signal flow through RAS and the mitogen-associated protein kinase (MAPK) cascade is the unifying mechanistic theme of the RASopathies, a family of disorders affecting development and growth. Pathogenic variants in more than 20 genes have been causally linked to RASopathies, the majority having a dominant role in promoting enhanced signaling. Here, we report that SPRED2 loss of function is causally linked to a recessive phenotype evocative of Noonan syndrome.

A rare cause of cyanosis: Congenital methemoglobinemia.

Congenital Methemoglobinemia is a rare condition that may mimic congenital heart diseases. There are two types of congenital Methemoglobinemia. The type I is usually benign.

Hyperbaric Oxygen Therapy for Mumps-Associated Outer Retinitis with Frosted Branch Angiitis.

Purpose: To describe a case of outer retinitis with frosted branch angiitis associated with mumps infection treated with hyperbaric oxygen (HBO) therapy.

Methods: Observational case report.

Case Report: A four-year-old boy with bilateral blindness was diagnosed with necrotizing outer retinitis with frosted branch angiitis associated with serologically confirmed mumps virus infection.

Characteristics and etiologies of short stature in children: Experience of an endocrine clinic in a Tunisian tertiary care hospital.

Background: Short stature is a common reason for referral to pediatric endocrinology clinics. It may be a manifestation of a pathological condition requiring early treatment. The aim of this study was to describe the characteristics and etiologies of short stature among children referred to the pediatric endocrinology clinic of the main pediatric tertiary care center in Tunisia.

Congenital hypothyroidism presenting with reversible renal impairment: an under-recognised problem?

Background: Hypothyroidism with impairment of renal function and raised creatinine phosphokinase (CPK) is described in adults and children with acquired hypothyroidism, but not in congenital hypothyroidism.

Case Presentation: A male infant born at term weighing 3390 g was seen aged 2 months with prolonged jaundice. Examination showed somnolence, umbilical hernia, enlarged fontanelles and lower limb edema; length 55 cm (-1.

Validation of the Arabic and Tunisian Arabic version of the KINDL questionnaires for children with diabetes type 1.

Aim: We aimed to validate the Arabic and Tunisian Arabic versions of diabetes- specific quality of life (QOL) instrument KINDL-R Diabetes Module for Tunisian children population with type 1 diabetes.

Patients And Methods: This a cross-sectional study to validate Arabic and Tunisian KINDL QOL instrument that we translate in literary and dialectal Arabic. Both forward and backward translations from the German version of KINDL QOL into Arabic version were performed.

Implementation of effective transition from pediatric to adult diabetes care: epidemiological and clinical characteristics-a pioneering experience in North Africa.

Aims: Type 1 diabetes is increasing in children leading more T1D young adults to adult healthcare settings. This change is experienced as a tear and results in a disengagement from specialist services. This study reports on an implementation of an effective and pioneering program of transition in North Africa.

A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients.

Phosphoglucomutase 3 (PGM3) protein catalyzes the conversion of N-acetyl-d-glucosamine-6-phosphate (GlcNAc-6-P) to N-acetyl-d-glucosamine-1-phosphate (GlcNAc-1-P), which is required for the synthesis of uridine diphosphate N-acetylglucosamine (UDP-GlcNAc) an important precursor for protein glycosylation. Mutations in PGM3 gene have been recently shown to underlie a new congenital disorder of glycosylation often associated to elevated IgE. Herein, we report twelve PGM3 deficient patients.

Prevalence and risk factors of overweight and obesity in elementary schoolchildren in the metropolitan region of Tunis, Tunisia.

Background: Local data about prevalence of obesity in emerging countries are rather scarce. Risk factors for obesity, well known in most industrialized countries, are poorly understood in Tunisia.

Aims: To assess prevalence of overweight and obesity and to investigate associations with possible risk factors in a group of 6-12 year- old schoolchildren in Tunis, Tunisia.

Abdominal tuberculosis in children.

Background: Abdominal tuberculosis (TB) includes infection of the gastrointestinal tract, peritoneum, mesentery, abdominal lymph nodes, liver, spleen, and pancreas. The most common forms of abdominal TB in children are adhesive peritonitis and nodal disease.

Patients And Methods: We report our experience with abdominal TB treated in our hospital from 1995 to 2008.

Extra-pulmonary tuberculosis in children: a study of 41 cases.

Background: Extrapulmonary tuberculosis accounts for up to one third of all cases of tuberculosis and children show a higher predisposition to the development of extra-pulmonary tuberculosis.

Aim: To review the clinical features of the extrapulmonary tuberculosis in children.

Methods: forty one children with extrapulmonary tuberculosis followed in the Children Hospital of Tunis between January 1995 and December 2007 were reviewed.

Central system nervous tuberculosis in infants.

The lack of specific symptoms and signs in patients with tuberculous meningitis makes early diagnosis difficult. In this report, we reviewed the clinical features and laboratory findings of 6 infants with central system nervous tuberculosis during a 10-year period. One of the patients had multifocal tuberculosis.