Publications by authors named "Faida Ouali"

Article Synopsis
  • Familial Hypophosphatasia is a genetic condition that is hard to diagnose because it shows different symptoms in different people, and it comes from various genetic changes.!
  • The study looked at a unique genetic change (mutation) in a family from Tunisia, focusing on how this mutation affects the behavior and structure of a specific enzyme related to the condition.!
  • Researchers used various methods, like modeling and simulations, to learn how this mutation impacts the enzyme's function, which helps explain the different symptoms seen in affected family members.!
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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.

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Sickle cell disease is a genetic disorder characterized by a hypercoagulable state. Several complications in this hemoglobinopathy are increased by thrombosis. Factor V Leiden (FVL), prothrombin (PRT) G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C mutations are major inherited risk factors of thrombotic complications.

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Background: Factor V-Leiden (FVL), Prothrombin (PRT) G20210A, and Methylene Tetrahydro Folate Reductase (MTHFR) C677T and A1298C mutations are major inherited risk factors of thrombotic complications. Our aim in this study was to investigate the prevalence of these mutations among Tunisian sickle cell patients.

Methods: Study subjects comprised 64 patients and 100 healthy controls.

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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.

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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.

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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.

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Background: In Tunisia, thalassemia and sickle cell disease represent the most prevalent monogenic hemoglobin disorders with 2.21% and 1.89% of carriers, respectively.

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Background: In Tunisia, thalassemia and sickle cell disease (SS) represent the most prevalent monogenic hemoglobin disorders with 2.21% and 1.89% of carriers, respectively.

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Background: β-Thalassemia is the most common disease among hemoglobinopathies in North African and Arab populations. In the present study we report the first description of the β-Knossos codon27 (G→T) (βKnossos) allele in cis with the δ059 (-A) mutation in thalassemia intermedia patients in Tunisia and Libya.

Methods: This identification was carried out by sequencing analysis of the whole coding regions of the δ- and β-globin genes.

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The short tandem repeats (STR) are undoubtedly the most used molecular markers in genetic diversity studies. β-thalassemia is a hereditary hemolytic anemia which is a common health problem all over the world. The disease has two main clinical forms: the severe form or β-thalassemia major (TM) and the moderate form or β-thalassemia intermedia (TI).

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Background And Objectives: Analbuminemia is a very rare autosomal recessive disorder. It is an allelic heterogeneous defect caused by a variety of mutations within the albumin gene. We describe in this report two new cases of analbuminemia in Libyans.

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Background And Objectives: Sickle cell disease (SCD) is a group of hereditary chronic anemias that manifest essentially as painful crisis and susceptibility to infection. Neonatal screening is a preventive action that reduces the rates of mortality due to complications arising from infections by encouraging early prophylactic penicillin use and pneumococcal vaccination. The purpose of this pilot study was to set up a neonatal screening protocol at a lower cost than one that uses commercially available screening kits.

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Hereditary persistence of fetal hemoglobin (HPFH) is a group of genetically heterogeneous conditions characterized by continued expression of fetal hemoglobin (HbF) in adulthood. HPFH may be due not only to point mutations or large deletions in different regions of the cluster β globin, but also to variations in several polymorphic sequences in this cluster. The objective of this work was to evaluate effects of polymorphic markers within cluster β globin on HbF expression.

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Herein we describe the case of a Tunisian girl who presented with 3% Hb Bart's (gamma4) at birth. At the age of 3 years, she showed microcytosis and hypochromia in the absence of iron deficiency. The first step of molecular analysis was to test for the common Mediterranean mutations and the classical -alpha3.

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