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.

High-Intensity Interval Training Reduces Liver Enzyme Levels and Improves MASLD-Related Biomarkers in Overweight/Obese Girls.

Background/objectives: Despite the abundant body of evidence linking high-intensity interval training (HIIT) to cardiometabolic markers, little is known about how HIIT affects liver enzymes, particularly in obese adolescents. This study aimed to investigate the effects of HIIT on metabolic dysfunction-associated steatotic liver disease (MASLD)-related biomarkers in overweight/obese adolescent girls.

Methods: Thirty-three overweight/obese adolescent girls (age, 17.

Hydroxytyrosol-Rich Olive Mill Wastewater, a Potential Protector Against Dyslipidemia, Diabetes, and Diabetic Retinopathy in Psammomys obesus.

Olive mill wastewater (OMWW), a byproduct of olive oil extraction, constitutes a natural resource of phenolic compounds. Hydroxytyrosol (HT), the predominant compound, was reported to have antioxidant, anti-inflammatory, and neuroprotective effects. This research aims to evaluate the effect of OMWW bioproduct rich in HT on retinal glial function, glutamate metabolism, and synaptic transmission alterations mediated by hyperglycemia and dyslipidemia in high-calorie diet (HCD)-induced diabetic retinopathy (DR) in Psammomys obesus.

Crocus Sativus Linnaeus (Saffron) intake does not affect physiological and perceptual responses during a repeated sprint test in healthy active young males.

The study aimed to investigate the effects of acute ingestion of saffron (SAF) on physiological (i.e., heart rate and blood lactate) and perceptual (i.

Abnormal expression of oxylipins and related synthesizing/signaling pathways in inflammatory bowel diseases.

We investigated selected oxylipins and related synthesizing/signaling pathways in 28 patients with Crohn's disease (CD), 19 patients with ulcerative colitis (UC), and 39 controls. Plasma and mucosal PUFA/oxylipin profiles were analyzed by LC-MS/MS. mRNA expression of 5, 12 and 15-lipooxygenases, FPR2/ALXR, FFAR4/GPR120, annexin A1, and interleukin-10 were analyzed by qRT-PCR.

Behaviour of Tunisian fed high-calorie diets: biochemical disturbance and histopathological alterations.

This work investigated the biochemical disturbances and histological alteration in animal model fed different high calorie diets (HCDs) during three months. Four diets were used: a low-calorie natural diet, halophyte plant used as control (LCD), a high standard carbohydrate diet rich in protein, HCD 0, a high carbohydrate diet rich in two concentrations of fat, HCD 1 and HCD 2. All animals having received HCDs developed dyslipidemia after one month of experiment with distinction of different sub-groups developing or not obesity and diabetes.

Docosahexaenoic acid, eicosapentaenoic acid, arachidonic acid, and neural tube defects in Tunisian population.

Objective: To determine the effect of maternal status in (plasma and red blood cell) folate, vitamin B12, homocysteine, and vitamin D, as well as their interaction with MTHFR (C677T and A1298C) and MTRR A66G polymorphisms, on maternal plasma docosahexaenoic acid (DHA), eicosapentaenoic acid (EPA), and arachidonic acid (ARA) levels and the risk of neural tube defects (NTDs).

Methods: ARA, EPA, and DHA composition was assessed using capillary gas chromatography.

Results: ARA and DHA levels were higher in controls than in case mothers for low plasma folate status.

Unsaponifiable Compounds and Phenols Content, Antioxidant and Antitrypsin Activities of Prunus persica Kernel Oil.

Although peach kernels are rich in oil, there is a lack of information about its chemical and biological properties. Therefore, the purpose of this study was to determine the lipid profile, antioxidant capacity, and trypsin inhibitory propriety of peach oil extracted from two varieties (sweet cap and O'Henry) cultivated in Tunisia. The investigated peach kernel oil contains significant amount of unsaponifiable (2.

Effects of high-intensity statin therapy on steroid hormones and vitamin D in type 2 diabetic men: A prospective self-controlled study.

The study aimed to assess the effect of high-intensity statin therapy on testicular and adrenal steroids and vitamin D levels in type 2 diabetic men. A prospective study, conducted between March 2021 and July 2022, including 60 men with type 2 diabetes, aged 40-65 years, statin-free, and in whom treatment with high-intensity statin was indicated. The patients had two visits, before and 6 months after a daily intake of 40 mg of atorvastatin.

Association of MTHFR (C677T, A1298C) and MTRR A66G polymorphisms with fatty acids profile and risk of neural tube defects.

Objective: This study aims to determine if 5,10-methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) and methionine synthase reductase (MTRR A66G) gene polymorphisms were associated with fatty acid (FA) levels in mothers of fetuses with neural tube defects (NTDs) and whether these associations were modified by environmental factors.

Methods: Plasma FA composition was assessed using capillary gas chromatography. Concentrations of studied FA were compared between 42 mothers of NTDs fetuses and 30 controls as a function of each polymorphism by the Kruskal-Wallis nonparametric test.

Long-term complications of permanent hypoparathyroidism in adults: prevalence and associated factors.

Introduction: Patients with Chronic hypoparathyroidism (CHPT) receiving conventional treatment are exposed to several long-term complications including basal ganglia calcifications, posterior subcapsular cataract, kidney stones, and renal insufficiency. The aim of this study was to assess the prevalence and the associated factors of these complications in patients with CHPT.

Methods: We conducted a cross-sectional study including 58 patients with CHPT.

Salivary Cortisol Measurement Contamination After Oral Hydrocortisone: A Randomized Crossover Trial.

The study aimed to evaluate salivary cortisol (SC) contamination and determine the associated factors in secondary adrenal insufficiency (SAI) patients treated with hydrocortisone (Hc). A randomized crossover trial involved SAI patients. SC was measured before the morning Hc dose, then at one, two, and four hours after.

Plasma Exchange for Lyme Neuroborreliosis delayed diagnosis: A case report.

Lyme neuroborreliosis (LNB) is a rare infectious disease, caused by Borrelia burgdorferi spirochetes and responsible for a variety of neurological manifestations. The most common manifestations of LNB in children are cranial nerve involvement, especially facial nerve palsy often accompanied by lymphocytic meningitis. In this article, we present a case of a 4-year-old boy presented to our emergency department with abdominal pain evolving for a week and symmetrical ascending progression of weakness responsible for severe respiratory failure.

Spectrum of Organic Aciduria Diseases in Tunisia: A 35-year Retrospective Study.

Background: Organic aciduria diseases (OADs) occur worldwide, with differences in prevalence and patterns between populations.

Objectives: To describe the spectrum of OADs identified in Tunisia over a 35-years period.

Materials And Methods: This retrospective study included patients who were diagnosed with OADs between 1987 and 2022 in the Laboratory of Biochemistry, Rabta Hospital, Tunisia.

Immunologic effect and clinical impact of erythromycin in septic patients: A randomized clinical trial.

To investigate the potential regulatory effect of erythromycin added to standard care in septic patients on sepsis biomarkers and clinical outcome. It was a single-blind randomized trial including critical septic patients. The primary endpoint was the change in the TNF/IL-10 ratio between days 0 and 6.

Single-center experience of congenital disorders of glycosylation syndrome screening in Tunisia: A retrospective study over a 15-year period (2007-2021).

Background: We report the results gathered over 15 years of screening for congenital disorders of glycosylation syndrome (CDGS) in Tunisia according to clinical and biochemical characteristics.

Methods: Our laboratory received 1055 analysis requests from various departments and hospitals, for children with a clinical suspicion of CDGS. The screening was carried out through separation of transferrin isoforms by capillary zone electrophoresis.

Analysis of Branched Amino Acids by UPLC as an Alternative Method for the Management of Patients with MUSD.

Background: Maple syrup urine disease (MSUD) is a severe life-threatening metabolic disorder. Patients' poor outcomes could be prevented by early diagnosis and regular monitoring, which mainly depend on the analysis of branched amino acids (BCAAs) in plasma. The study aimed to test whether the analysis of BCAAs by ultra-performance liquid chromatography (UPLC) is an alternative to an analysis by ion-exchange chromatography (IEC) for the diagnosis and monitoring of MSUD.

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.

Levothyroxine liquid oral substitution as an alternative treatment for refractory hypothyroidism due to gastrointestinal malabsorption: A case report.

Tablets of levothyroxine (LT4) are the most used form for the treatment of hypothyroidism. Some patients may present with refractory hypothyroidism despite a high daily LT4 dose. We report the case of a 49-year-old woman who was admitted to our department for refractory hypothyroidism.

Metabolic disorders during endogenous Cushing's syndrome: prevalence, associated factors, and outcome after remission.

The prognosis of Cushing's syndrome (CS) is related to a higher cardiovascular morbidity and mortality. This study aimed to determine the prevalence of metabolic disorders in patients with CS, the associated factors, and the rate of remission of these disorders after the remission from CS. It is a retrospective study including 75 cases of CS followed up at the university hospital La Rabta of Tunis from 1987 to 2018.

Vitamin B12 deficiency in long-term metformin treated type 2 diabetic patients: Prevalence and risk factors in a Tunisian population.

To determine the prevalence of vitamin B12 deficiency in a Tunisian population with type 2 diabetes (T2D) on metformin treatment for more than three years and to identify its risk factors. This is a cross-sectional study conducted on 257 patients with T2D treated with metformin for at least three years. Patients were divided into two groups according to their vitamin B12 status.

Effects of moderate- vs. high-intensity interval training on physical fitness, enjoyment, and affective valence in overweight/obese female adolescents: a pre-/post-test study.

Objective: The aim of this study was to compare the effects of 12-week moderate-intensity interval training (MIIT) vs. high-intensity interval training (HIIT) on body composition, physical fitness, and psychological valence in overweight/obese (OW/OB) female adolescents.

Patients And Methods: Thirty-eight OW/OB female students were randomized into HIIT (n=13), MIIT (n=13) or control (n=12) groups.