STUDY OF CLINICAL MANIFESTATIONS AND ETIOLOGIES OF MEGALOBLASTIC ANEMIA IN CHILDREN.

Background And Aim: Megaloblastic anemia (MA) is a rare pathology in childhood due, in the majority of cases, to a deficiency of folic acid and/or vitamin B12 (cobalamin). This study aims to determine the epidemiological, clinical, and paraclinical profiles of MA in children and to specify its etiologies, therapeutic modalities, and treatment responses.

Methods: This is a retrospective descriptive study of MA cases in children carried out in the General Pediatrics Department of the Hedi Chaker University Hospital of Sfax over a period of 42 years, from January 1979 to December 2021.

An unusual cause of hypertrophic cardiomyopathy in an infant: A case report and brief literature review.

Introduction: Nemaline myopathy (NM), also known as Nemalinosis, is a rare congenital muscle disease with an incidence of 1 in 50000. It is characterized by nemaline rods in muscle fibers, leading to muscle weakness. We reported a case of NM revealed by cardiac involvement, and we highlighted the challenges in diagnosing this condition as well as its poor prognosis.

Relationship between homocysteine, vitamin B9, vitamin B12 levels methylenetetrahydrofolate reductase (C677T, A1298C) polymorphisms, and cryptogenic stroke in Tunisian adults´ patients: a case-control study.

Introduction: the relationship between elevated plasma homocysteine (Hcy) and stroke has been established, but this association remains indistinct in cryptogenic stroke in adults. Our aim is to investigate the association between homocysteine, vitamins B9 and B12, and cryptogenic stroke. Furthermore, to determine the correlation between methylenetetrahydrofolate reductase (MTHFR) polymorphism and biochemical levels in plasma.

Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein.

The clinical diagnosis of patients with multisystem involvement including a pronounced neurologic damage is challenging. High-throughput sequencing methods remains crucial to provide an accurate diagnosis. In this study, we reported a Tunisian patient manifesting hypotonia and global developmental delay with visual and skin abnormalities.

Sleep Habits and Disturbances Among Tunisian Adults: A Cross-Sectional Online Survey.

Background: Sleep quality and disturbances have gained heightened scholarly attention due to their well-established association with both mental and physical health. This study aims to assess sleep-wake habits and disturbances in Tunisian adults.

Methodology: This cross-sectional study employed an online questionnaire to assess 3074 adults ≥ 18 years.

Mutation in the β-tubulin gene TUBB4A results in epileptic encephalopathy associated with hypomyelinated leucodystrophy: Unexpected findings reveal genetic mosaicism.

Introduction: Epileptic encephalopathies (EEs) are a group of heterogeneous epileptic syndromes characterized by early-onset refractory seizures, specific EEG abnormalities, developmental delay or regression and intellectual disability. The genetic spectrum of EE is very wide with mutations in a number of genes having various functions, such as those encoding AMPA ionotropic and glutamate receptors as well as voltage-gated ion channels. However, the list of EE-responsible genes could certainly be enlarged by next-generation sequencing.

ICOS gene polymorphisms in systemic lupus erythematosus: A case-control study.

The inducible T-cell costimulator (ICOS) may play an important role in adaptive immunity by regulating the interaction between T cells and antigen-presenting cells. Disruption of this molecule can lead to autoimmune diseases, in particular systemic lupus erythematosus (SLE). In this study, we aimed to explore the possible association between ICOS gene polymorphisms and SLE as well as their influence on disease susceptibility and clinical outcomes.

The Impact of Exercise Training Intensity on Physiological Adaptations and Insulin Resistance in Women with Abdominal Obesity.

Abdominal obesity has emerged globally as a major public health issue due to its high prevalence and morbidity. The benefits of physical exercise among the obese population are well documented. However, the optimal exercise intensity for reducing body fat and preventing insulin resistance and metabolic disorders is still under debate.

Anterolateral Papillary Muscle Rupture Revealing Infective Endocarditis.

The rupture of mitral papillary muscles is a very rare complication of infective endocarditis (IE). We report a case of anterolateral papillary muscle rupture resulting in severe mitral regurgitation due to IE in a young man without previous heart disease. The patient underwent urgent mitral valve replacement.

Annexin A1 and its receptor gene polymorphisms in systemic lupus erythematosus in the Tunisian population.

Background: An association between ANXA1, FPR1 and FPR2 gene polymorphisms and the patho-physiology of many human diseases was suggested by numerous studies.

Objective: Our study aimed to evaluate association between common polymorphisms in the 9q21.13 and 19q13.

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.

Co-existence of and mutation in resistant chronic myeloid leukemia in the imatinib era: Is there a correlation?

Introduction: Diagnoses of myeloproliferative disorder is based on molecular marker. Chronic Myeloid Leukemia and Myeloproliferative neoplasms were considered mutually exclusive and co-existence of BCR/ABL1 and JAK2 mutation is a rare phenomenon.

Case Report: Here, we present two cases of co-existence of BCR-ABL and JAK2V617F positivity.

Toll-like-Receptor Gene Polymorphisms in Tunisian Endemic Pemphigus Foliaceus.

Pemphigus foliaceus (PF) is considered to be caused by the combined effects of susceptibility genes and environmental triggers. The polymorphisms of Toll-like receptors (TLRs) genes have been associated with the risk of various autoimmune diseases. The aim of this study was to evaluate the potential association of -- and gene polymorphisms with Tunisian PF.

Nocturnal Continuous Positive Airway Pressure (nCPAP) Decreases High-Sensitivity C-Reactive Protein (hs-CRP) in Obstructive Sleep Apnea-Hypopnea Syndrome.

Background: Systemic and airway inflammation has recently been linked to obstructive sleep apnea-hypopnea syndrome (OSAHS) and is considered to be a probable risk factor for OSAHS-induced cardiovascular damage. High-sensitivity C-reactive protein (hs-CRP), as an inflammatory mediator, may be useful for the prediction of the risk of cardiovascular disease (CVD) and assessment of nocturnal continuous positive airway pressure (nCPAP) therapy effect in OSAHS patients.

Methods: A prospective, controlled, cross-sectional study was conducted on 64 consecutive adult subjects with suspected sleep-disordered breathing (SDB).

Coexisting central and obstructive sleep apnea and mild diurnal hypoventilation associated with unilateral diaphragmatic dysfunction and brainstem lesion.

A 63-year old man was diagnosed with coexisting central (CSA) and obstructive (OSA) sleep apnea, crescendo-decrescendo (CD) periodic breathing (PB), frequent sustained desaturation hypoxemia events related to prolonged hypopnea and mild diurnal hypoventilation. Unilateral diaphragmatic dysfunction (DD) related to diabetic phrenic neuropathy was identified. Magnetic resonance imaging (MRI) scans of the head disclosed frontal-subcortical white matter (WM) lesions, while brainstem MRI found a small punctiform defect in the median area of the pons.

Diagnosis and management of autoimmune hemolytic anemia in children.

Background And Aim: The aim of this study is to evaluate the clinical, biological and hematological profiles of autoimmune hemolytic anemia (AIHA) in children and to specify its etiologies, therapeutic modalities, and treatment responses.

Methods: This is a 14-year retrospective study of AIHA cases collected at the department of pediatric emergency and reanimation of Hedi Chaker University Hospital in Sfax. We included patients under 14 years old with clinical and biological features of hemolysis and a positive direct antiglobulin test (DAT).

Lipopeptides from Bacillus amyloliquefaciens strain 32a as promising biocontrol compounds against the plant pathogen Agrobacterium tumefaciens.

Despite the potential biological importance of lipopeptides from Bacillus amyloliquefaciens as antimicrobial compounds, their effects on Agrobacterium tumefaciens biofilms have not been previously studied. These latter are important virulence factors for the development and re-occurrence of crown gall disease. As part of the development of a new biopesticide acting as anti-biofilm and biocontrol agent, we investigated for the first time the ability of a mixture of lipopeptides produced by B.

HLA Class III: A susceptibility region to systemic lupus erythematosus in Tunisian population.

Background And Objectives: Short tandem repeats (STR) are usually used as informative polymorphic markers for genetic mapping and for disease susceptibility analysis. The involvement of these microsatellite markers localized in the MHC region was reported in many auto-immune diseases. In this study we analyzed for the first time eight polymorphisms of microsatellite loci at the HLA region: D6S291, D6S273, TNFa, b and c, MICA, D6S265 and D6S276, in Tunisian systemic lupus erythematosus (SLE) patients.

How does serum brain natriuretic peptide level change under nasal continuous positive airway pressure in obstructive sleep apnea-hypopnea syndrome?

Background: Obstructive sleep apnea-hypopnea syndrome (OSAHS) is associated with cardiovascular morbidity and mortality, which can be improved by using continuous positive airway pressure (CPAP) therapy. However, the pathophysiological links between the two kinds of disease and the mechanism of the CPAP effect remain incompletely understood. We aimed to inquire into the myocardial involvement in this relationship.

Genetic Diversity of HIV-1 in Tunisia.

In this study, the genetic diversity of HIV-1 in Tunisia was analyzed. For this, 193 samples were collected in different regions of Tunisia between 2012 and 2015. A protease and reverse transcriptase fragment were amplified and sequenced.

Molecular diagnosis of Rickettsia infection in patients from Tunisia.

Diagnosis of rickettsioses had largely benefited from the development of molecular techniques. Unfortunately, in Tunisia, despite the large number of rickettsial cases registered every year, the Rickettsia species remain unidentified. In this study, we aimed to detect the Rickettsia species in clinical samples using molecular tests.