Fatigue in healthy and diseased individuals.

Objectives: Although fatigue is experienced by everyone, its definition and classification remains under debate.

Methods: A review of the previously published data on fatigue.

Results: Fatigue is influenced by age, gender, physical condition, type of food, latency to last meal, mental status, psychological conditions, personality type, life experience, and the health status of an individual.

Presentation of adult mitochondrial epilepsy.

Purpose: Mitochondrial disorders (MIDs) frequently manifest phenotypically as epilepsy (mitochondrial epilepsy). Mitochondrial epilepsy occurs in early-onset as well as late-onset syndromic and non-syndromic MIDs. We were interested in the types of epilepsy, the prevalence of mitochondrial epilepsy, the type and effectiveness of treatment, and in the outcome of adult MID patients with epilepsy.

Renin-angiotensin system polymorphisms in relation to hypertension status and obesity in a Tunisian population.

Essential hypertension (HTA) is the clinical expression of a disordered interaction between the genetic, physiological, and biochemical systems that under usual conditions maintain cardiovascular homeostasis. We studied the effects of the angiotensinogen M235T, angiotensin converting enzyme insertion/deletion (ACE I/D), and angiotensin II receptor 1 (AT1R) A1166C gene polymorphisms on the risk of HTA and to evaluate the relationship between these polymorphisms and obesity. We performed AGT, ACE and AGTR genotyping in 142 hypertensive patients and 191 control subjects using PCR-RFLP methods and PCR, respectively.

The CC genotype of the angiotensin II type I receptor gene independently associates with acute myocardial infarction in a Tunisian population.

Acute myocardial infarction (AMI) is a multifactorial disease influenced by environmental and genetic factors. The aim of this study was to assess the association of angiotensin II type 1 receptor (ATR1) gene polymorphisms with AMI as well as to evaluate the role of serum angiotensin-converting enzyme (ACE) activity and that of cardiac troponin I (cTnI) in Tunisian AMI patients. One hundred and eighteen AMI patients were compared to 150 healthy controls.

Angiotensinogen gene polymorphism in acute myocardial infarction patients.

Introduction: The objective of the study was to explore the role of a genetic variant of angiotensinogen (AGT), M235T, as an independent risk factor for acute myocardial infarction (AMI) and to investigate the possible association with the severity of coronary artery disease (CAD), estimated on the basis of the number of coronary stenoses and critical arterial occlusions.

Patients And Methods: 123 AMI patients were compared to 144 healthy controls. AGT genotypes were determined by PCR.

Genotypic interactions of renin-angiotensin system genes with diabetes type 2 in a Tunisian population.

Aims: To explore the role of genetic variants of angiotensinogen (AGT M235T), angiotensin-converting enzyme (ACE I/D), and angiotensin type 1 receptor (AT1R A1166C) as predictors of diabetes risk and to examine their combined effects on type 2 diabetes mellitus (T2DM) patients.

Main Methods: One hundred and fourteen T2DM patients were compared to 175 healthy controls with similar age and sex.

Key Findings: The genotypic frequencies for all three genes alone were significantly associated with increased risk of developing diabetes.

Association of ACE I/D polymorphism in Tunisian patients with dilated cardiomyopathy.

Primary cardiomyopathies are multifactorial diseases. Genetic factors other than the causal mutations in the modified genes affect the phenotypic expression of dilated cardiomyopathy. The aim of this study was to determine the association of angiotensin-converting enzyme I/D polymorphism with the risk of dilated cardiomyopathy in a Tunisian population.

Angiotensin-converting enzyme insertion/deletion gene polymorphism in a Tunisian healthy and acute myocardial infarction population.

Introduction: The role of the insertion/deletion (I/D) polymorphism in the angiotensin-converting enzyme gene (ACE) on acute myocardial infarction (AMI) is controversial.

Objectives: To assess the effect of the ACE I/D polymorphism on AMI compared with the healthy controls and its relationship with serum ACE activity in a Tunisian population.

Design And Methods: A total of 119 patients with AMI were compared with 238 healthy controls from the same geographical area.

Relationship between genetic polymorphisms of angiotensin-converting enzyme and methylenetetrahydrofolate reductase as risk factors for type 2 diabetes in Tunisian patients.

Background/aims: The role of methylenetetrahydrofolate reductase (MTHFR) and angiotensin-converting enzyme (ACE) gene polymorphisms as being risk factors for diabetes is still controversial. The aim was to investigate the distribution of ACE and MTHFR genotypes as well as to evaluate the role of plasmatic total homocysteine levels (tHcy) and ACE activity in Tunisian patients with type 2 diabetes mellitus (T2DM).

Design And Methods: 115 T2DM patients compared to 116 healthy volunteers.

A novel mitochondrial DNA tRNAIle (m.4322dupC) mutation associated with idiopathic dilated cardiomyopathy.

We identified a novel heteroplasmic mitochondrial DNA (mtDNA) (m.4322dupC) mutation in tRNA gene associated with isolated dilated cardiomyopathy (DCM) as maternal trait. Mutation screening techniques and automated DNA sequencing were performed to identify mtDNA mutations and to assess heteroplasmy in family's proband and healthy control subjects.