Managing mass disasters linked to the sinking of illegal migrant boats: experiences of the Sfax forensic medicine service.

Background: The sinking of illegal migrant boats has been unpredictable. It has resulted in mass disasters that cause deaths and attracts huge media attention, thus making it a medico-social emergency.

Aims: This paper reports activities of the forensic medicine service in Sfax, Tunisia and describes the forensic management of mass disasters related to the sinking of illegal migrant boats as well as the main challenges.

[Medico-legal issues of the practice of ritual circumcision by nurses in Tunisia].

Circumcision is the most performed surgical procedure in the world. This removal of the foreskin answers most often to an obligatory ritual practice in the Jewish and Muslim religions. In Tunisia, this act, formerly practiced by customary circumcisers, is mainly performed by nurses.

SHIFTing artificial intelligence to be responsible in healthcare: A systematic review.

A variety of ethical concerns about artificial intelligence (AI) implementation in healthcare have emerged as AI becomes increasingly applicable and technologically advanced. The last decade has witnessed significant endeavors in striking a balance between ethical considerations and health transformation led by AI. Despite a growing interest in AI ethics, implementing AI-related technologies and initiatives responsibly in healthcare settings remains a challenge.

Criminal medical liability in the context of Covid-19 pandemic.

The COVID-19 infection causes to medical community many difficulties worldwide. In addition to its therapeutic problems, it can generate situations with high medico-legal risk to doctor who can see his criminal medical liability engaged. In fact, in Tunisia, this new infection imposes many specific legal obligations.

Association of M470V polymorphism of CFTR gene with variability of clinical expression of asthma: Case-report study.

Introduction And Objectives: Asthma is a complex genetic disorder. Several genes have been found associated with asthma. The cystic fibrosis transmembrane conductance regulator (CFTR) gene is one of them.

Capillarys 2 Flex Piercing: Analytical performance assessment according to CLSI protocols for HbA quantification.

HbA is used for monitoring diabetic balance. In this paper we report an assessment of the analytical performances of Capillarys 2 Flex Piercing (C2FP) for HbA measurement using CE (Capillary Electrophoresis). CLSI (Clinical and Laboratory Standard Institute) protocols are used for the evaluation of apparatus performances: precision, linearity, method comparison, trueness and common interferences.

Determination of glucose-6-phosphate dehydrogenase cut-off values in a Tunisian population.

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the commonest enzymopathy worldwide. The incidence depends essentially on the methods used for the assessment. In this respect, we attempted in this study to set cut-off values of G6PD activity to discriminate among normal, heterozygous, and deficient individuals using the World Health Organization (WHO) classification and the receiver operating characteristics (ROC) curve analysis.

First description of the rs45496295 polymorphism of the C/EBPE gene in β-thalassemia intermedia patients.

The C/EBPE gene, located in 14q11.2, encodes for a B/zip-type transcription factor. The C/EBPɛ is involved in terminal differentiation and functional maturity of granulocyte progenitor cells and in cell apoptosis during myeloid differentiation.

Mental skills comparison between elite sprint and endurance track and field runners according to their genetic polymorphism: a pilot study.

Background: Achieving excellence in track and field athletes requires specific mental skills. The aim of the present study was to compare the mental skills between elite sprint and endurance athletes.

Methods: Forty elite athletes (age 20.

Setup of a Protocol of Molecular Diagnosis of β-Thalassemia Mutations in Tunisia using Denaturing High-Performance Liquid Chromatography (DHPLC).

Backgrounds: β-Thalassemia is one of the most prevalent worldwide autosomal recessive disorders. It presents a great molecular heterogeneity resulting from more than 200 causative mutations in the β-globin gene. In Tunisia, β-thalassemia represents the most prevalent monogenic hemoglobin disorder with 2.

Molecular identification of Gd A- and Gd B- G6PD deficient variants by ARMS-PCR in a Tunisian population.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymopathy. More than 200 mutations in the G6PD gene have been described. In Tunisia, the A-African and the B-Mediterranean mutations predominate the mutational spectrum.

Prenatal diagnosis of hemoglobinopathies in Tunisia: an 18 years of experience.

Unlabelled: Hemoglobinopathies are the most common genetic disease in Tunisia with a total carrier prevalence of 4.48%.

Objective: The aim of this study was to report an 18-year fully achieved experience of prenatal diagnosis (PND) of hemoglobinopathies (1994-2012) and to assess the impact of this prevention program.

Autism in Phenylketonuria Patients: From Clinical Presentation to Molecular Defects.

Autism has been reported in untreated patients with phenylketonuria. The authors aimed to explore autism in 15 Tunisian and 4 Algerian phenylketonuria patients, and report their clinical, biochemical and molecular peculiarities. The Childhood Autism Rating Scale and the Autism Diagnostic Interview-Revised were used for the diagnosis of autism.

Association between ACE polymorphism, cognitive phenotype and APOE E4 allele in a Tunisian population with Alzheimer disease.

Angiotensin-converting enzyme (ACE) has shown altered activity in patients with neurological diseases. An insertion/deletion (I/D) polymorphism of the ACE gene encoding angiotensin-converting enzyme has been reported to be associated with the risk for Alzheimer's disease (AD), and is generally considered to be a disorder primarily affecting memory. We conducted a case-control study in a sample composed of 85 sporadic AD patients and 90 age- and sex-matched controls to investigate the possible effect of the polymorphism and cognitive profile.

Contribution of M470V variant to cystic fibrosis: First study in CF and normal Tunisian population.

Purpose: Determining the frequency of M470V polymorphism in cystic fibrosis and healthy cohort in Tunisia to establish the contribution of M470V polymorphism in cystic fibrosis variable presentation and course. Additionally, studying the origin of cystic fibrosis transmembrane conductance regulator gene in Tunisian population and its evolution among populations worldwide.

Patients And Methods: The genotyping of M470V marker was realized by PCR-RFLP technique in 34 unrelated patients and 50 healthy subjects.

Association of TGFB1 -509C/T polymorphism gene with clinical variability in cystic fibrosis patients: A case-control study.

Purpose: In this work, we are interested to study the implication of -509C/T polymorphism, located in the promoter region of TGFB1 (transforming growth factor β1), in the phenotypic variability of CF patients.

Patients And Methods: The present study enrolled 111 CF patients and 100 healthy control subjects. The study of the -509C/T polymorphism was performed using PCR-RFLP method.

Prenatal diagnosis of cystic fibrosis: 10-years experience.

Purpose: We present in this study our 10years experience in prenatal diagnosis of cystic fibrosis performed in the Tunisian population.

Patients And Methods: Based on family history, 40 Tunisian couples were selected for prenatal diagnosis. Fetal DNA was isolated from amniotic fluid collected by transabdominal amniocentesis or from chronic villi by transcervical chorionic villus sampling.

Genetic advantageous predisposition of angiotensin converting enzyme id polymorphism in Tunisian athletes.

Background: ID polymorphism of the gene coding for the angiotensin I-converting enzyme (ACE) represents a determining factor in physical and athletic performance in the context of genetic conditioning of sports predisposition. The aim of this study was to show the potential importance of genetic factors in relation to the athletic status in Tunisian athletes.

Methods: The ACE genotypes were established using polymerase chain reaction (PCR) amplification for 282 Tunisian athletes (endurance: N.

Fortuitous description of haemoglobin A2' [δ16 (A13) Gly→Arg (GGC→CGC)] in a Tunisian family: study of the molecular defect and its origin.

The most common inherited haemoglobin disorders encountered in Tunisia are β-thalassemia and sickle cell disease, which result from mutations in the β-globin gene. Few studies focused on δ-globin gene variations responsible for δ-thalassemia or HbA2 variants. HbA2' [δ16 (A13) Gly→Arg (GGC→CGC)] is a δ-chain variant that has been identified in several populations of African origin.

Pregnancy in kidney transplanted women: what are the optimal conditions for a better pregnancy outcome?

Background: Motherhood has long been not recommended for kidney transplanted women for fear of adverse effects on the graft and the risks to the fetus.

Aims: This article aimed to provide evidence based answer to the following questions regarding pregnancy in kidney transplanted women: 1. what are the nephrologic and obstetrical parameters that can influence the pregnancy outcome? 2.

Soft-tissue tumor of the perineum: an exceptional case of bilateral perineal myoma.

Perineal myomas in female are exceptional. We report the second case in literature of perineal myomas. It is a case of bilateral perineal myomas lifting the skin occurring in a female patient of 49 years old.

Preliminary study of haplotypes linked to the rare cystic fibrosis E1104X mutation.

The analysis of some extra- and intragenic markers within or closely linked to the cystic fibrosis transmembrane regulator (CFTR) gene is useful as a molecular method in clinical linkage analysis. Indeed, knowing that the molecular basis of cystic fibrosis (CF) is highly heterogeneous in our population, the study of haplotype association with normal and CF chromosomes could be very helpful in cases where one or both mutations remain unidentified. In this study, we analysed with PCR-RFLP and capillary electrophoresis some extra (pJ3.