Perforated gastric volvulus in a child with undiagnosed congenital diaphragmatic hernia (case report).

Introduction: Congenital diaphragmatic hernia (CDH) is a rare developmental anomaly where a defect in the diaphragm allows abdominal organs to migrate into the thoracic cavity, impairing lung function. While typically identified in neonates, delayed presentations, though uncommon, can complicate diagnosis and treatment. Early detection is vital to prevent severe complications such as organ strangulation or perforation.

Agreement of cardiac index measurements between ultrasonic cardiac output monitor and transthoracic echocardiography in neonates.

Objectives: To evaluate the agreement of cardiac index (CI) calculated by Ultrasonic sonic cardiac output monitor (USCOM) and transthoracic thoracic echocardiography (TTE) in order to know if we can recommend USCOM in our pediatric intensive care unit (PICU).

Design: Prospective observational evaluative study carried out over a period of 3 months Setting: PICU at children's hospital in Tunis Participants: All newborns without tracheostomy or a known congenital heart disease, admitted to the PICU during the study period were enrolled.

Interventions: Paired and consecutive measurements of CI were obtained in all patients with both technologies.

Haemophilic arthropathy: Diagnosis, management, and aging patient considerations.

Gene therapy and universal use of safer, more effective, and personalised prophylactic regimens (factor, and nonfactor) are expected to prevent joint bleeding and promote joint health in persons with haemophilia (PwH). Growing evidence suggests that subclinical bleeding, with active and inactive synovial proliferation, continues and haemophilic arthropathy remains a major morbidity in PwH despite early institution of joint prophylaxis. Joint health assessment is evolving with physical examination scores complementing imaging scores.

Epidemiological and clinical characteristics of 66 Tunisian Sickle cell syndrome patients.

Introduction: Sickle cell syndrome (SCS) represent a real health problem. In this work, we propose to study the epidemiological and clinical features of 66 patients with SCS.

Methods: This is a retrospective descriptive cross-sectional study carried out on a population of 66 patients with SCS, (36 S/S, 18 S/β-thalassemia, seven S/C and five S/O), over a period of two years.

Single-center experience of congenital disorders of glycosylation syndrome screening in Tunisia: A retrospective study over a 15-year period (2007-2021).

Background: We report the results gathered over 15 years of screening for congenital disorders of glycosylation syndrome (CDGS) in Tunisia according to clinical and biochemical characteristics.

Methods: Our laboratory received 1055 analysis requests from various departments and hospitals, for children with a clinical suspicion of CDGS. The screening was carried out through separation of transferrin isoforms by capillary zone electrophoresis.

An original preoperative orthopaedic management of a complex spinal deformity in a 16-year-old patient with spondyloepiphyseal dysplasia congenita.

Purpose: Spinal deformities in patients with Spondyloepiphyseal Dysplasia congenita are particularly challenging to treat. Addressing these deformities requires a holistic surgical strategy. The aim of this case report is to highlight an original preoperative protocol combining atlantoaxial instability stabilization by halo jacket with progressive correction of a thoracic kyphoscoliosis using continuous elongation by tension plaster cast as described by Stagnara.

Reconstruction of isolated hypoplasia of the patella by a modified Galeazzi procedure: a case report.

Background: Isolated Patellar Aplasia Hypoplasia is a very rare autosomal dominant disorder. Its treatment depends on the clinical manifestations that can vary widely. The lack of active extension, which can be responsible for frequent falls due to a knee instability, is the most frequent and disabling manifestation.

Critically ill infants with SARS-COV-2 delta variant infection.

Background: SARS-CoV-2 is described to cause mild to moderate symptoms in children. To date, clinical data and symptoms of the Delta variant in pediatric patients are lacking.

Aim: To describe clinical characteristics and outcomes of infants admitted in the pediatric intensive care unit (PICU) during the period of Delta variant predominance.

Growing rods for early-onset scoliosis in Ehlers-Danlos disease.

Purpose: To study the results and complications of Traditional Growing Rods (TGR) for the treatment of Early-Onset Scoliosis (EOS) in patients with Ehlers-Danlos syndrome (EDS).

Methods: This is a retrospective study of patients with EDS treated for EOS between 2012 and 2018 by TGR. For each patient, we evaluated the evolution of the Cobb angle of the main coronal curve before the first surgery, postoperatively and at the last follow-up.

Implementation of a prospective study for enhancing surveillance of invasive bacterial infections in North Africa.

Objectives: We implemented a project named MENINGSTOP in three countries of North Africa (Algeria, Morocco and Tunisia). The main objective was to use real-time PCR to detect, identify and type the three main agents (Neisseria meningitidis, Streptococcus pneumoniae and Haemophilus influenzae) responsible for invasive bacterial infections (IBI).

Methods: The protocol of WHO and US CDC for real-time PCR was used to detect and type the three bacterial agents in clinical samples.

Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment.

Alpha-Mannosidosis (AM) is an ultra-rare storage disorder caused by a deficiency of lysosomal alpha-mannosidase encoded by the MAN2B1 gene. Clinical presentation of AM includes mental retardation, recurrent infections, hearing loss, dysmorphic features, and motor dysfunctions. AM has never been reported in Tunisia.

First Tunisian Cluster Admissions of Critically Ill Patients with Multisystem Inflammatory Syndrome in Children (MIS-C).

Background: Multisystem inflammatory syndrome in children (MIS-C) is a new emerging severe disease that is temporally related to previous exposure to coronavirus infection disease (COVID-19).

Aim: To describe the clinical features, laboratory findings, therapies, and outcomes for the first Tunisian cluster admissions of critically ill children with severe MIS-C.

Methods: Retrospective study conducted from November 01 to November 30, 2020According to the WHO definition case, we included eight children aged less than 15 years who were admitted to our pediatric intensive care and met MIS-C criteria.

Congenital pseudarthrosis of the forearm treated with induced membrane technique: A case report.

Congenital pseudarthrosis of the forearm (CPF) is an uncommon entity frequently described in association with neurofibromatosis type 1. Surgical treatment Is required. This is a challenging pathology in pediatric orthopedic surgery due to the difficulty of achieving a satisfying result in terms of bone defect healing.

Management of septic non union and discrepancy of humerus in a child: A case report.

Introduction: The management of large bone defect in the upper limb is fraught with difficulties and problems. It's is a long course treatment which include many components: infection, osseous loosening and shortening.

Case Presentation: We present our experience of an 12-years-old boy with septic non union of the proximal left humerus with length discrepancy of 6 cm treated with Ilizarov fixator(IL) followed by vascularized fibula graft (VFG) with a good clinical result without complications.

Congenital urethrocele in children. A case report.

Introduction: Congenital urethrocele is a rare disease in children. The diagnosis is often easy but the management remain difficult due to the risk of urethral stenosis form.

Case Presentation: We report a case of a 19-month-old child presenting with a penoscrotal mass.

Association of IVS6A GATT polymorphism of CFTR gene with cystic fibrosis: first study in CF and normal Tunisian population.

Background: Cystic fibrosis (CF) is the most common autosomal recessive disease in Caucasians, caused by mutation in cystic fibrosis transmembrane conductance regulator (CFTR). The analysis of some extra and intragenic markers within or closely linked to CFTR gene is useful as a molecular method in clinical linkage analysis. Indeed, knowing that the molecular basis of CF is highly heterogeneous in our population is explained in the present study.

Evaluation of the influenza-like illness surveillance system in Tunisia, 2012-2015.

Background: This study was initiated to evaluate, for the first time, the performance and quality of the influenza-like illness (ILI) surveillance system in Tunisia.

Methods: The evaluation covered the period of 2012-2015 and used different data sources to measure indicators related to data quality and completeness, representativeness, timeliness, simplicity, acceptability, flexibility, stability and utility.

Results: During the evaluation period, 485.

Clopidogrel utilization in patients with coronary artery disease and diabetes mellitus: should we determine CYP2C19*2 genotype?

Purpose: Clopidogrel non-responsiveness is multifactorial; several genetic and non-genetic factors may contribute to impaired platelet inhibition. The goal of this study is to determine the effect of the cytochrome P450 CYP2C19*2 polymorphism on the platelet response to clopidogrel in patients with and without diabetes mellitus (DM).

Methods: We conducted an observational study in patients with coronary artery disease and consequent exposure to clopidogrel therapy (75 mg/day for at least 7 consecutive days).

Fabricated or induced illness in twins associated with insertion of trocar needles into their bodies.

Fabricated and/or induced illness (previously known as Munchausen syndrome by proxy) is a form of child abuse in which the perpetrator induces, exaggerates or fabricates illness in his/her child. Two-month-old twins were referred to the paediatric surgery centre with trocar needles lodged in different organs. A radiograph undertaken in one of them because of acute respiratory distress demonstrated needles in the heart and diaphragm which were removed surgically.

A Novel Mutation c.153 C>A in a Tunisian Girl With Wolman Disease and Unusual Presentation: Hemophagocytic Lymphohistiocytosis.

Wolman disease is an ultrarare lysosomal storage disease caused by a mutation in the LIPA gene. The clinical features of Wolman disease include early onset of vomiting, diarrhea, failure to thrive, hepatosplenomegaly, and bilateral adrenal calcification. We report the case of a 3-month-old infant who presented clinical features of hemophagocytic lymphohistiocytosis.