Importance of the reticulocyte hemoglobin equivalent in the exclusion of latent iron deficiency.

Background: Iron deficiency is an underdiagnosed public health problem, especially in developing countries, that can conceal serious underlying illnesses. Early diagnosis and treatment of latent iron deficiency (LID) is crucial. Reticulocyte hemoglobin equivalent (RET-He), was reported to be a cost-effective tool that reflects the iron availability at erythropoiesis.

[Neurofilaments: a key new biomarker for clinicians. Part 2: Neurofilaments, an asset beyond neurodegenerative diseases].

Neurofilaments (Nf) are proteins selectively expressed in the cytoskeleton of neurons, and their increase is a marker of neuronal damage. The potential utility of neurofilament light chain (NfL) has recently increased considerably, well beyond neurodegenerative diseases, due to analytical advances that allow measurement of their concentrations (even low ones) in cerebrospinal fluid and blood. This article completes the first part, in which we presented the interest of NfL in the context of neurodegenerative diseases.

[Neurofilaments: a key new biomarker for clinicians. Part 1: Importance of neurofilaments in the management of neurodegenerative diseases].

Neurological biomarkers are of great use for clinicians, as they can be used for numerous purposes: guiding clinical diagnosis, estimating prognosis, assessing disease stage and monitoring progression or response to treatment. This field of neurology has evolved considerably in recent years due to analytical improvements in assay methods, now allowing the detection of biomarkers not only in cerebrospinal fluid (CSF) but also in blood. This progress greatly facilitates the repeated quantification of biomarkers, the collection of blood being much less invasive than that of CSF.

MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy.

Pyruvate is an essential metabolite produced by glycolysis in the cytosol and must be transported across the inner mitochondrial membrane into the mitochondrial matrix, where it is oxidized to fuel mitochondrial respiration. Pyruvate import is performed by the mitochondrial pyruvate carrier (MPC), a hetero-oligomeric complex composed by interdependent subunits MPC1 and MPC2. Pathogenic variants in the MPC1 gene disrupt mitochondrial pyruvate uptake and oxidation and cause autosomal-recessive early-onset neurological dysfunction in humans.

Neurofilaments contribution in clinic: state of the art.

Neurological biomarkers are particularly valuable to clinicians as they can be used for diagnosis, prognosis, or response to treatment. This field of neurology has evolved considerably in recent years with the improvement of analytical methods, allowing the detection of biomarkers not only in cerebrospinal fluid (CSF) but also in less invasive fluids like blood. These advances greatly facilitate the repeated quantification of biomarkers, including at asymptomatic stages of the disease.

Semen Creatine and Creatine Kinase Activity as an Indicator of Sperm Quality.

Background: The role of creatine (Cr) and creatine kinase (CK) in sperm function remains unclear. The study aimed to assess Cr and CK in seminal plasma and test their association with sperm characteristics.

Methods: The study included 62 males with couple's infertility and 26 males who have already fathered children.

[Hypercalcemia related to PTH-rP revealing malignant hepatic epithelioid hemangioendothelioma].

Hypercalcemia caused by tumor production of PTH-rp occurs most often in cases of squamous cell carcinoma of the lung, aerodigestive tract cancer, gynecological cancer and lymphoma. We report an exceptional case of PTH-rp related to a hepatic hemangioendothelioma. A 70 years-old male admitted for deterioration of the general state.

X-linked Adrenoleukodystrophy, The Tunisian Experience.

Background: X-linked adrenoleukodystrophy is a genetic disease affecting the degradation of very long chain fatty acids. This study aims to describe the clinical phenotype and biochemical feature of Tunisian patients; it also seeks to describe recognition of pattern analysis on the level of very long chain fatty acids in plasma for the visual discrimination of X-linked patients from a healthy group.

Methods: During the last 21 years, 19 patients were diagnosed with X-linked adrenoleukodystrophy based on the clinical features combined with the area percentage of hexacosanoic acid (C26:0) as well as the ratio of C26:0 and lignoceric acid (C24:0) relative to behenic acid (C22:0) by gas chromatography.

Clinical and Biochemical Profile of Tyrosinemia Type 1 in Tunisia.

Background: Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive disease caused by a defect of fumarylacetoacetate hydrolase. This study aimed to estimate the prevalence of HT1 in Tunisia and report its clinical, biochemical and genetic features.

Methods: During the last 25 years, 69 patients were diagnosed with HT1 based on clinical features and increased succinylacetone (SA) in blood and urine.

Fortuitous description of haemoglobin A2' [δ16 (A13) Gly→Arg (GGC→CGC)] in a Tunisian family: study of the molecular defect and its origin.

The most common inherited haemoglobin disorders encountered in Tunisia are β-thalassemia and sickle cell disease, which result from mutations in the β-globin gene. Few studies focused on δ-globin gene variations responsible for δ-thalassemia or HbA2 variants. HbA2' [δ16 (A13) Gly→Arg (GGC→CGC)] is a δ-chain variant that has been identified in several populations of African origin.

Plasma total homocysteine: usual values and main determinants in adults living in the Great Tunis region.

Background: Elevated total plasma homocysteine (tHcy) is an established risk factor for occlusive vascular disease and is thought to increase the risk of pregnancy loss, birth defects, and cognitive impairment in the elderly.

Objectives: To determine tHcy standard values and the prevalence of hyperhomocysteinemia (HHC) and to examine their association with demographic and life style factors in the Greater Tunis population.

Methods: This cross-sectional study included 2712 subjects (1228 males and 1484 females) aged 35 - 70 years, living in the Greater Tunis region.

G protein beta3 subunit gene C825T and angiotensin converting enzyme gene insertion/deletion polymorphisms in hypertensive Tunisian population.

Background: We investigated the interaction between the G protein beta3 subunit (GNB3) C825T variant and angiotensin converting enzyme (ACE) Insertion/Deletion (I/D) polymorphism in hypertensive Tunisian population.

Methods: Analyses of ACE and GNB3 genotypes were performed in 388 hypertensive patients and 425 healthy controls by polymerase chain reaction-restriction fragment length polymorphism. The plasma ACE activity was determined by a spectrophotometric method.

Dyslipidemia in the Greater Tunis population: prevalence and determinants.

Background: Economic development and socio-demographic changes have led to increased frequency of cardiovascular disease and other chronic diseases in Tunisia.

Objectives: To assess the prevalence of different types of dyslipidemia and to examine their association with sociodemographic characteristics in the Greater Tunis population.

Methods: The study included 2712 subjects (1228 men and 1484 women) aged 35-70 years, recruited during the years 2004 and 2005 from the Greater Tunis population.

Lack of association between C3123A polymorphism of the angiotensin II type 2 receptor gene and hypertension in Tunisian population.

Background: Hypertension is a polygenic disease. Various singlenucleotide gene polymorphisms of renin angiotensin system have been explored in hypertension. Angiotensin II, the major biologically active component of this system, exerts its effect via two pharmacologically distinct subtypes of angiotensin II receptors, the angiotensin II type 1 receptor and the angiotensin II type 2 receptor.

C(-260)T polymorphism in the promoter of CD 14 gene is not associated with myocardial infarction in the Tunisian population.

Recent findings suggest that inflammation plays a role in atherosclerosis and its acute complications. Several known mechanisms may play at least a partial role in this process. One of the most likely mechanisms involves lipopolysaccharide (LPS) and its receptor, CD14.

Association between -786TC polymorphism in the endothelial nitric oxide synthase gene and hypertension in the Tunisian population.

Background: Nitric oxide (NO) is produced by endothelial cells and serves as a potent vasodilator. Several lines of evidence have shown that NO plays an important role in the regulation of blood pressure and regional blood flow. Recent genetic studies have shown an association between the -786TC polymorphism in the endothelial nitric oxide synthase gene (NOS3) and coronary artery diseases, but any possible association with hypertension has been controversial.

[Erythrocyte abnormalities in thyroid dysfunction].

Background: Erythrocyte abnormalities are frequently associated with thyroid dysfunction. However, they are rarely investigated and related to the thyroid.

Aim: This study was aimed to determine the nature and frequency of erythrocyte abnormalities in thyroid disease and look for their evolution after thyroid function restoration.

The paraoxonase L55M and Q192R gene polymorphisms and myocardial infarction in a Tunisian population.

Objectives: In the present study, we examined a possible association between the PON1 Q192R and L55M polymorphisms and myocardial infarction (MI) in a sample of the Tunisian population.

Design And Methods: Three hundred and ten patients with MI and 375 controls were recruited. Paraoxonase gene polymorphisms at codon 192 and 55 were analyzed by PCR-RFLP.

[Minor beta thalassemia masked by a hemoglobin A2 mutant].

Background: The elevation of hemoglobin A2 (HbA2) is an essential criterion in the diagnosis of minor ss thalassemia.

Aim: To report a case of minor ss thalassemia HbA2 with normal HbA2 rate.

Observation: We report the case of ten years old boy, with hypochromic microcytic anemia, refractory to iron treatment.

[Plasma fatty acids profile and lipids in Tunisian male elite athletes].

Background: Growing interest is accorded to polyunsaturated fatty acids (PUFAs) omega3, which are considered beneficial for health.

Aim: to investigate the effect of sports on plasma lipids and fatty acids (FAs), especially omega6 and omega3 PUFAs and the omega6/omega3 ratio.

Methods: The study included 75 Tunisian male elite athletes, practicing team sport and 70 sedentary healthy men as controls.