Clinical and therapeutic characteristics of childhood uveitis in a tertiary center in Tunisia.

Introduction: Childhood uveitis is a rare condition with various associated diagnostic and therapeutic challenges.

Aim: We proposed to describe the distribution, clinical findings, treatment, complications, and visual outcomes of uveitis in children at a tertiary referral center in Sfax, Tunisia.

Methods: A retrospective study of 33 children (54 eyes) with uveitis collected over the period from January 2009 to December 2018 was carried out at the Ophthalmology Department of Habib Bourguiba University Hospital, Sfax, Tunisia.

Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low-GGT intrahepatic cholestasis: Genetic diagnosis and genotype-phenotype correlation assessment.

Many inherited conditions cause hepatocellular cholestasis in infancy, including progressive familial intrahepatic cholestasis (PFIC), a heterogeneous group of diseases with highly overlapping symptoms. In our study, six unrelated Tunisian infants with PFIC suspicion were the subject of a panel-target sequencing followed by an exhaustive bioinformatic and modeling investigations. Results revealed five disease-causative variants including known ones: (the p.

Preparation and Characterization of New and Low-Cost Ceramic Flat Membranes Based on Zeolite-Clay for the Removal of Indigo Blue Dye Molecules.

Composite flat membranes were prepared using a dry uniaxial pressing process. The effect of the sintering temperature (850-950 °C) and smectite proportion (10-50 wt.%) on membrane properties, such as microstructure, mechanical strength, water permeability, and treatment performances, was explored.

[Rheumatic cardiopathies and its risk factors: about 50 cases].

Introduction: Acute rheumatic fever (ARF) is a multi-systemic disease, in which cardiac involvement is the most serious major manifestation of disease. The aim of this study was to analyse cardiac involvement in children with ARF and his risk factors.

Materials And Methods: It were a retrospective study including all children under the age of 14 years who were hospitalized for ARF in the pediatric department of the CHU Hédi Chaker of Sfax, during a period of twelve years (2010-2022).

Development of Ultrafiltration Kaolin Membranes over Sand and Zeolite Supports for the Treatment of Electroplating Wastewater.

A high cost of high-purity materials is one of the major factors that limit the application of ceramic membranes. Consequently, the focus was shifted to using natural and abundant low-cost materials such as zeolite, clay, sand, etc. as alternatives to well-known pure metallic oxides, such as alumina, silica, zirconia and titania, which are usually used for ceramic membrane fabrication.

Treatment of Tuna Cooking Juice via Ceramic Ultrafiltration Membrane: Optimization Using Response Surface Methodology.

In the present work, optimized ultrafiltration conditions, using a ceramic multi tubular titania membrane (150 KDa), were investigated for the treatment of tuna cooking juice, for water reuse in the industrial process. The interactive effects of the volume concentrating factor (VCF) (1.03-4.

Statistical Simulation, a Tool for the Process Optimization of Oily Wastewater by Crossflow Ultrafiltration.

This work aims to determine the optimized ultrafiltration conditions for industrial wastewater treatment loaded with oil and heavy metals generated from an electroplating industry for water reuse in the industrial process. A ceramic multitubular membrane was used for the almost total retention of oil and turbidity, and the high removal of heavy metals such as Pb, Zn, and Cu (>95%) was also applied. The interactive effects of the initial oil concentration (19−117 g/L), feed temperature (20−60 °C), and applied transmembrane pressure (2−5 bar) on the chemical oxygen demand removal (RCOD) and permeate flux (Jw) were investigated.

Guillain-Barré Syndrome in a Child With Multisystem Inflammatory Syndrome Related to COVID-19.

Guillain-Barré syndrome has been associated with acute severe acute respiratory syndrome coronavirus 2 infection in children. Here, we report a 4-year-old boy who developed Guillain-Barré syndrome in the course of multisystem inflammatory syndrome related to COVID-19.

Custom Next-Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects of the retina, the thyroid, and the kidneys.

Background: In the Tunisian population, the molecular analysis of hearing impairment remains based on conventional approaches, which makes the task laborious and enormously expensive. Exploration of the etiology of Hearing Impairment and the early diagnosis of causal mutations by next-generation sequencing help significantly alleviate social and economic problems.

Methods: We elaborated a custom SureSelect panel for next-generation sequencing of the coding sequences of 42 genes involved in isolated hearing impairment or along with defects of the retina, the thyroid, and the kidneys.

8q21.11 microdeletion syndrome: Delineation of HEY1 as a candidate gene in neurodevelopmental and cardiac defects.

Background: 8q21.11 microdeletion syndrome is a rare chromosomal disorder characterized by recurrent dysmorphic features, a variable degree of intellectual disability and ocular, cardiac and hand/feet abnormalities. To date, ZFHX4 is the only candidate gene implicated in the ocular findings.

Mutations in GAA Gene in Tunisian Families with Infantile Onset Pompe Disease: Novel Mutation and Structural Modeling Investigations.

Pompe disease, a rare, autosomal, recessive, inherited, lysosomal storage disorder, is caused by mutations in the acid α-glucosidase (GAA) gene leading to a deficiency of the lysosomal GAA enzyme. Some GAA mutations eliminate all enzymatic activities, causing severe infantile Pompe disease; others allow residual GAA activity and lead to middle adulthood forms. Here, we report a cohort of 12 patients, belonging to 11 unrelated families, with infantile Pompe disease.

Removal of fluoride ions (F) from aqueous solutions using modified Turkish zeolite with quaternary ammonium.

The natural Turkish zeolite has been modified with hexadecyltrimethylammonium bromide (CTAB) for the elimination of fluoride (F) from aqueous solutions. The parent natural zeolite (NZ) and modified zeolite (MZ) have been characterized by Fourier transform infrared (FTIR) spectroscopy, thermogravimetric analysis (TGA), zeta potentials and Brunauer-Emmett-Teller (BET) method. The effect of pH, adsorbent dose, contact time, initial concentration and temperature on adsorption of fluoride ions onto modified zeolite (MZ) has been determined in batch experiments.

Hypoparathyroidism in children: a study of eight cases.

Background: Hypoparathyroidism is a rare pediatric endocrine disease, which is caused by low circulating levels of PTH or insensitivity to its action in the target tissues.

Aim: To report the clinical and biochemical characteristics and theoutcome of 8 patients with hypoparathyroidism.

Methods: We analyzed retrospectively the results of clinical, biochemical, radiological findings of patients with hypoparathyroidism diagnosed in pediatric department of Hedi Chaker Hospital during the period 1994-2013.

Adverse Reactions Due to the Bacillus Calmette-Guerin Vaccine: Twenty Tunisian Cases.

Background: Bacillus Calmette-Guérin (BCG) vaccine is a widely used vaccine. Management of local BCG complications differs between clinicians, and the optimal approach remains unclear.

Aims: We aim to describe the epidemiological, clinical and therapeutic aspects of the BCG vaccine side effects in Sfax.

Factor XIII deficiency in south of Tunisia.

: Factor XIII deficiency is a rare autosomal recessive disorder of hemostasis characterized by a plasmatic factor XIII level less than 1% in homozygote and bleeding as of the youth. The aim of the study is to describe the clinical features and the outcome of the patients and to determine molecular characteristics. A retrospective study, was conducted on seven patients with factor XIII deficiency in the department of hematology and pediatrics, Hedi Chaker Hospital, Sfax, Tunisia during the period of 14 years (2001-2014).

Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets.

Background: Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disorder characterized by the early onset of rickets and is caused by mutations in the vitamin D receptor (VDR) gene. Some HVDRR patients also have alopecia.

Patients And Methods: We retrospectively studied the clinical features, laboratory findings, genetic defects, as well as responses to treatment in a series of children with HVDRR.

Report of the Tunisian Registry of Primary Immunodeficiencies: 25-Years of Experience (1988-2012).

Purpose: Primary immunodeficiencies (PIDs) are a large group of diseases characterized by susceptibility to not only recurrent infections but also autoimmune diseases and malignancies. The aim of this study was to describe and analyze the distribution, clinical features and eventual outcome of PID among Tunisian patients.

Methods: We reviewed the record of 710 patients diagnosed with Primary Immunodeficiency Diseases (PIDs) from the registry of the Tunisian Referral Centre for PIDs over a 25-year period.