Lamia Boughamoura

Clinical and genomic characterization of corpus callosum abnormalities (CCA) in 107 Tunisian patients using a stepwise diagnostic approach

Bochra Khadija, Hamza Hadj Abdallah, Wafa Slimani, Ayda Bennour et autres

Background Corpus callosum abnormalities (CCA) represent a heterogeneous group of neurodevelopmental disorders resulting from disturbances in midline patterning, neuronal migration, and axonal guidance. Their genetic architecture includes chromosomal abnormalities, pathogenic copy-number variations (CNVs), and single-gene disorders; however, genotype–phenotype correlations remain incompletely defined, …

Tunisie, us, de (code pays fourni par la source)

Evaluation of HPA Axis Function in Pediatric Patients with Chronic Corticosteroid Therapy Using the Low-Dose (1 μg) Synacthen Test

Wiem Ben Hadj Ali, Marwa Abdelbari, T. Ach, O. Zarrouk et autres

Tunisie (code pays fourni par la source)

Drowning Among Tunisian Children: Clinical Patterns and Outcomes

Safa Mdimegh, Boulbeba Elleuch, Marwa Abdelbari, Nesrine Jaballah et autres

PURPOSE: Describe clinical and therapeutic aspects of pediatric drowning and analyse predictive factors of mortality. METHODS: We conducted a retrospective analysis of patients under 16 years of age admitted between 2018 and 2022 to the Pediatric Intensive Care Unit at Farhat Hached …

Tunisie (code pays fourni par la source)

Carbamazepine-Induced DRESS Syndrome During Epstein-Barr Virus Reactivation in an Adolescent

Dhouha Sahnoun, Myriam Agrebi, Bahaeddine Dridi, Hanen Zayani et autres

Drug reaction with eosinophilia and systemic symptoms (DRESS) is a rare and potentially life-threatening syndrome. Herein, we present the case of a 14-year-old female who developed a diffuse erythematous rash with fever and facial edema 6 weeks after initiating treatment with carbamazepine …

Tunisie (code pays fourni par la source)

Influencing factors of health-related quality-of-life perceived by both children/adolescents patients with type-1 diabetes mellitus and their parents: A North-African study

Imen Ben Abdesselem, Raoudha Kebeili, Khansa Derbel, Hichem Ben Said et autres

Aim To determine the influencing factors of health-related quality-of-life (HRQoL) perceived by North-African children/adolescents with type-1 diabetes-mellitus (T1DM) and their parents. Methods It was a cross sectional study conducted in Tunisia. A total of 116 patients ( ie ; 43 children and …

Tunisie (code pays fourni par la source)

Peer Review Report For: Influencing factors of health-related quality-of-life perceived by both children/adolescents patients with type-1 diabetes mellitus and their parents: A North-African study [version 1; peer review: 2 approved]

Imen Ben Abdesselem, Raoudha Kebeili, Khansa Derbel, Hichem Ben Said et autres

Aim To determine the influencing factors of health-related quality-of-life (HRQoL) perceived by North-African children/adolescents with type-1 diabetes-mellitus (T1DM) and their parents. Methods It was a cross sectional study conducted in Tunisia. A total of 116 patients ( ie ; 43 children and …

Tunisie (code pays fourni par la source)

Peer Review Report For: Influencing factors of health-related quality-of-life perceived by both children/adolescents patients with type-1 diabetes mellitus and their parents: A North-African study [version 1; peer review: 2 approved]

Imen Ben Abdesselem, Raoudha Kebeili, Khansa Derbel, Hichem Ben Said et autres

Aim To determine the influencing factors of health-related quality-of-life (HRQoL) perceived by North-African children/adolescents with type-1 diabetes-mellitus (T1DM) and their parents. Methods It was a cross sectional study conducted in Tunisia. A total of 116 patients ( ie ; 43 children and …

Tunisie (code pays fourni par la source)

Recurrent pneumococcal meningitis in children: Diagnostic dilemma.

Hajer Ben Belgacem, Najla Soyah, Donia Brahem, Marwa Abdelbari et autres

Tunisie (code pays fourni par la source)

Influencing factors of health-related quality-of-life perceived by both children/adolescents patients with type-1 diabetes mellitus and their parents: A North-African study

Imen Ben Abdesselem, Raoudha Kebeili, Khansa Derbel, Hichem Ben Said et autres

Aim: To determine the influencing factors of health-related quality-of-life (HRQoL) perceived by North-African children/adolescents with type-1 diabetes-mellitus (T1DM) and their parents. Methods: ; 43 children and 73 adolescents) and their parents were included. The Arabic validated version of the Pediatric Generic Core …

Tunisie (code pays fourni par la source)

Mitochondrial genes modulate the phenotypic expression of congenital scoliosis syndrome caused by mutations in the TBXT gene

Olfa Alila‐Fersi, Amel Tej, Marwa Maalej, M. Kharrat et autres

Tunisie, ae (code pays fourni par la source)

Cribriform plate dehiscence with encephalomeningocele revealed by recurrent meningitis: a case report

Najla Soyah, Hajer Ben Belgacem, Donia Brahem, N. Mama et autres

INTRODUCTION: Meningitis is a potentially life threatening illness. It requires prompt diagnosis and treatment. Recurrent meningitis needs detailed investigations to identify the underlying cause. OBSERVATION: We report a case of recurrent pneumococcal meningitis in a 9-year-old boy with an underlying congenital skull …

Tunisie (code pays fourni par la source)

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

L. Essaddam, Ons Zitouni, Lilia Kraoua, Madiha Trabelsi et autres

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. …

Tunisie (code pays fourni par la source)