Mucopolysaccharidosis type I: founder effect of the p.P533R mutation in North Africa.

Background: Mucopolysaccharidosis type I is a lysosomal storage disease resulting from a deficiency in alpha-L-iduronidase (IDUA), which causes the accumulation of partially degraded dermatan sulfate and heparan sulfate. This retrospective study, spanning eight years, analyzed data from 45 MPSI patients. The report aimed to explore the potential origin of the p.

Vitamin D status and VDR gene polymorphisms in patients with growth hormone deficiency: A case control Tunisian study.

Introduction: Growth Hormone Deficiency (GHD) is a rare disease marked by a complete or partial reduction in the production of growth hormone. Vitamin D deficiency is frequent and may be associated with several pathologies. However, the association between GHD and vitamin D deficiency has not been extensively studied.

Incidence of the Mucopolysaccharidoses in Tunisia, 1999 - 2021.

Background: This cross-sectional study aimed to describe and discuss the epidemiology of mucopolysaccharidoses (MPS) in Tunisia.

Methods: Patients diagnosed with a MPS disorder in two referral laboratories in Tunisia between 1999 and 2021 were included. Diagnosis was based on clinical and radiological features and analysis of urinary glycosaminoglycans, and enzyme assay in some of the patients.

Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis.

Background: Ocular cystinosis is a rare autosomal recessive disorder characterized by intralysosomal cystine accumulation in renal, ophthalmic (cornea, conjunctiva), and other organ abnormalities. Patients with ocular cystinosis are mostly asymptomatic and typically experience mild photophobia due to cystine crystals in the cornea observed accidently during a routine ocular examination. The ocular cystinosis is associated with different mutations in CTNS gene.

The Relationship Between Menopause and Metabolic Syndrome: Experimental and Bioinformatics Analysis.

Menopausal hormonal changes have been associated with the emergence of the metabolic syndrome (MetS) and its consequences such as type 2 diabetes (T2D) and cardiovascular diseases (CVD). The common gene signature and the associated signaling pathways of MetS, T2D, CVD and menopause status have not been widely studied. We analyzed a total of 314 women aged between 35 and 75 years.

Potential functions of hsa-miR-155-5p and core genes in chronic myeloid leukemia and emerging role in human cancer: A joint bioinformatics analysis.

Considering the critical roles of hsa-miR-155-5p participated in hematopoietic system, this study aims to clarify the possible pathogenesis of chronic myeloid leukemia (CML) induced by hsa-miR-155-5p.Three different strategies were employed, namely a network-based pipeline, a survival analysis and genetic screening method, and a simulation modeling approach, to assess the oncogenic role of hsa-miR-155-5p in CML. We identified new potential roles of hsa-miR-155-5p in CML, involving the BCR/ABL-mediated leukemogenesis through MAPK signaling.

Comprehensive in-silico analysis of damage associated SNPs in hOCT1 affecting Imatinib response in chronic myeloid leukemia.

Non-synonymous single nucleotide polymorphisms (nsSNPs) in hOCT1 (encoded by SLC22A1 gene) are expected to affect Imatinib uptake in chronic myeloid leukemia (CML). In this study, sequence homology-based genetic analysis of a set of 270 coding SNPs identified 18 nsSNPs to be putatively damaging/deleterious using eight different algorithms. Subsequently, based on conservation of amino acid residues, stability analysis, posttranscriptional modifications, and solvent accessibility analysis, the possible structural-functional relationship was established for high-confidence nsSNPs.

Contribution of ADIPOQ Variants to the Genetic Susceptibility of Recurrent Pregnancy Loss.

Adiponectin is a hormone implicated in regulating energy, lipid, and glucose metabolism and is encoded by the ADIPOQ gene. ADIPOQ variants can regulate the circulating levels of adiponectin. Irregular adiponectin concentrations have been associated with numerous reproductive diseases including recurrent pregnancy loss (RPL).

Association of the methylene-tetrahydrofolate reductase gene rs1801133 C677T variant with serum homocysteine levels, and the severity of coronary artery disease.

This study aimed to investigate whether the single nucleotide polymorphism C677T (rs1801133) of the methylene-tetrahydrofolate reductase (MTHFR) gene was associated with the risk of coronary artery disease (CAD) and circulating homocysteine (Hcy) levels in Tunisian population. 310 angiografically diagnosed CAD patients and 210 controls were enrolled in this study. The MTHFR C677T (rs1801133) polymorphism was genotyped, and the Hcy concentrations were measured.

Relationship between high sensitivity C-reactive protein and angiographic severity of coronary artery disease.

Background: Coronary artery disease (CAD) remains a leading cause of morbidity and mortality. Cytokines play a potential role in atherosclerosis pathogenesis and progression. We investigated the association between high sensitive C-reactive protein (hsCRP) and severity of CAD.

Correlation between chemical composition and antibacterial activity of some Lamiaceae species essential oils from Tunisia.

Background: Lamiaceae family is one of the most diverse and common plant families in terms of ethnomedicine due to their potential therapeutic effects. The aim of this study is to investigate the correlation between the chemical composition and the antibacterial effect of five essential oils from this family against five reference bacterial strains responsible of nosocomial diseases and foodborne illnesses.

Methods: The commercial essential oils of Tunisian Rosmarinus officinalis, Thymus capitatus, Origanum majorana and Salvia officinalis were analyzed by GC/FID and GC-MS.

Association of genetic variants in Estrogen receptor (ESR)1 and ESR2 with susceptibility to recurrent pregnancy loss in Tunisian women: A case control study.

Estrogen receptor (ER) signaling is key regulator for maintaining successful pregnancy. Several research suggested that genetic variation in ER genes (ESR)1 and ESR2 is associated with the susceptibility to unexplained recurrent pregnancy loss (RPL), often with inconclusive results. In this study, we investigate the relationship between ESR1 and ESR2 polymorphisms and idiopathic RPL.

Biochemical parameters and oxidative stress markers in Tunisian patients with periodontal disease.

Background: Oxidative stress is involved in many diseases including diabetes and cancer. Numbers of studies have suggested its involvement in the pathogenesis of periodontal diseases. The aim of this study was to evaluate the levels of biochemical parameters and oxidative stress markers in plasma of healthy and chronic periodontitis patients.

The Impacts of Ramadan Intermittent Fasting on Oxidant/Antioxidant Stress Biomarkers of Stable Chronic Obstructive Pulmonary Disease Male Patients.

No prior study has evaluated the impacts of Ramadan intermittent fasting (RIF) on oxidant/antioxidant stress (OS/AOS) biomarkers in patients with chronic obstructive pulmonary disease (COPD). The aim of this study was to assess the impacts of RIF on some OS/AOS biomarkers measured in male patients with stable COPD. Fifteen COPD patients (mean age: 71 ± 6 years) fasting Ramadan in 2017 volunteered to take part in the study.

α-Amylase and α-glucosidase inhibitor effects and pancreatic response to diabetes mellitus on Wistar rats of Ephedra alata areal part decoction with immunohistochemical analyses.

Ephedra alata, known as a medicinal plant in China, was used in this study as aqueous extract from aerial parts, for diabetes mellitus treatment. This study was carried out on two parts, in vitro, we tested the effect of the studied extract on the inhibition of α-glucosidase and α-amylase activities, and in vivo on Wistar male rats receiving alloxan intraperitoneally at a rate of 125 mg/kg. Extract (100, 200, and 300 mg/kg of body weight) was administrated for 28 days by oral gavage.

Relationship of activin A levels with clinical presentation, extent, and severity of coronary artery disease.

Objective: We aimed to evaluate the relationship of serum activin A levels with risk factors, clinical presentation, biochemical marker levels, extent, and severity of atherosclerotic coronary artery disease (CAD).

Methods: In total, 310 CAD patients [92 with ST-segment elevation myocardial infarction (STEMI), 111 with non-STEMI (NSTEMI), and 107 with unstable angina (UA)] and 207 healthy subjects (controls) were enrolled. Activin A levels in all participants were measured using ELISA.

Hepatic Proteins and Inflammatory Markers in Rheumatoid Arthritis Patients.

Background: Rheumatoid arthritis is an autoimmune inflammatory rheumatic disease that causes chronic synovial inflammation eventually leading to joint destruction and disability. The aim of this study was to determine the variations of hepatic proteins, myeloperoxidase, and iron in rheumatoid arthritis Tunisian patients and their implications in inflammation and in iron metabolism.

Methods: Overall, 172 patients from the Rheumatology Department of the University Hospital "Farhat Hached", Sousse-Tunisia between 2011 and 2012, with rheumatoid arthritis (97.

Pathological interactions between the endothelin-1 and the angiotensin- converting enzyme among Tunisian coronary patients.

Background: The correct understanding of the biochemical and metabolic interactions between coronary risk factors contribute to the exploration of cardiovascular pathophysiology and improves therapeutic care. The aim of this study was to explore the endothelin-1 (ET-1) concentration and the angiotensin converting enzyme (ACE) activity among Tunisian patients with coronary heart disease, and to investigate the metabolic relationships between these two markers,… and to assess the possible relationship between them and the different risk factors. In this present study, ET-1 concentration was determined by an analytical method (High Performance Chromatography, coupled by Mass Spectrometry), ACE activity was measured by a kinetic method for patients and healthy controls.

Evaluation of physiological risk factors, oxidant-antioxidant imbalance, proteolytic and genetic variations of matrix metalloproteinase-9 in patients with pressure ulcer.

Pressure ulcer (PU) remains a common worldwide problem in all health care settings, it is synonymous with suffering. PU is a complex disease that is dependent on a number of interrelated factors. It involves multiple mechanisms such as physiological risk factors, chronic inflammation, oxidant-antioxidant imbalance and proteolytic attack on extracellular matrix by matrix metalloproteinases (MMP).

Gaucher Disease: Clinical, Biological and Therapeutic Aspects.

We present a brief review of Gaucher disease (GD), the most common lysosomal storage disease. GD is a rare autosomal recessive disorder characterized by the defective function of the catabolic enzyme β-glucocerebrosidase (GBA), leading to an accumulation of its substrate, glucocerebroside. Clinical signs and symptoms include neurological dysfunctions, bone infarcts and malformations, hepatosplenomegaly and hypersplenism leading to anemia, neutropenia and thrombocytopenia.

Relationship between the A(8002)G intronic polymorphism of pre-pro-endothelin-1 gene and the endothelin-1 concentration among Tunisian coronary patients.

Background: Acute coronary syndromes (ACS) are complex and polygenic diseases which are a real problem of public health. These syndromes require multidisciplinary studies to understand the pathogenesis mechanisms. Our study aims to evaluate the endothelin-1 (ET-1) serum concentration in Tunisian coronary compared to controls healthy, as well as the study of the impact of an intronic polymorphism A (8002) G of pre-pro-endothelin-1 Gene (inactive precursor of ET-1) on the change in serum endothelin-1 and in the susceptibility to Acute coronary syndrome (SCA).