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The objective of this study is to target the effect, in the South East Algerian population, of homocysteine level on gestational hypertension (GH) in wom-en. We also aim to study if gestational hypertension and preeclampsia (PE), two types of hypertensive disorders, share the same risk factors. The case-control study has been undertaken in Ouargla maternity hospital. Homocys-teine (Hcy) levels have been measured using an automated chemilumines-cence method. Creatinine and total protein have been determined using a colorimetric method, while an enzymatic technique has been employed to estimate the aspartate aminotransferase (AST) and the alanine aminotrans-ferase (ALT). The mean concentration of homocysteine was significantly higher for PE (14.90±8.54 μmol/l) and GH (11.10±5.13 μmol/l) compared to that of normotensive women (6.85±3.23 μmol/l) p≤ 0.01. Besides, hyperho-mocysteinemia (Hhcy) was detected with 70% of mothers with PE and with 40% of mothers with GH compared to only 11.53 % of controls. These values show the correlation between the rate of Hcy and hypertension during preg-nancy aetiology and severity. The other metabolites showed a significant increase in total protein level in PE and GH women compared to controls (p≤0.01). A significant increase in creatinine level is observed for patients with preeclampsia (p

In a majority of individuals with disorders/differences of sex development (DSD) a genetic etiology is often elusive. However, new genes causing DSD are routinely reported and using the unbiased genomic approaches, such as whole exome sequencing (WES) should result in an increased diagnostic yield. Here, we performed WES on a large cohort of 125 individuals all of Algerian origin, who presented with a wide range of DSD phenotypes. The study excluded individuals with congenital adrenal hypoplasia (CAH) or chromosomal DSD. Parental consanguinity was reported in 36% of individuals. The genetic etiology was established in 49.6% (62/125) individuals of the total cohort, which includes 42.2% (35/83) of 46, XY non-syndromic DSD and 69.2% (27/39) of 46, XY syndromic DSD. No pathogenic variants were identified in the 46, XX DSD cases (0/3). Variants in the AR, HSD17B3, NR5A1 and SRD5A2 genes were the most common causes of DSD. Other variants were identified in genes associated with congenital hypogonadotropic hypogonadism (CHH), including the CHD7 and PROKR2. Previously unreported pathogenic/likely pathogenic variants (n = 30) involving 25 different genes were identified in 22.4% of the cohort. Remarkably 11.5% of the 46, XY DSD group carried variants classified as pathogenic/likely pathogenic variant in more than one gene known to cause DSD. The data indicates that variants in PLXNA3, a candidate CHH gene, is unlikely to be involved in CHH. The data also suggest that NR2F2 variants may cause 46, XY DSD.

Duchenne and Becker muscular dystrophy (DMD/BMD) are the most com-mon neuromuscular diseases caused by mutations in the dystrophin gene also called (DMD gene), located at Xp21. We report the clinical and genetic analysis of 74Algerian DMD/BMD patients from 62unrelated families who attended the neuromuscular unit of the University Hospital Center of Con-stantine between 2014 and 2017. After informed consent, multiplex poly-merase chain reaction (mPCR)was established to identify deletions. All pa-tients presented a classical phenotype dominated by a bilateral and symmetrical motor deficit predominantly proximal with calf hypertrophy in 91.6% of patients, with very high serum CK levels. Molecular analysis of the DMD gene showed, large deletions at all patients. Most of the deletions were between exons 44 and 53, the most frequent were deletions of exons 45-48, with ex-on 45 as the most common single exon deletion. Our study had generated considerable data on deletions that may promote future experimental thera-pies in Algeria.

Introduction - Diabetic nephropathy is the leading cause of chronic kidney disease and the most common and serious complication of diabetes. Its exact pathogenesis is complex and not completely elucidated. Several factors and mechanisms contribute to the development and the outcome of this pathology.The objectives of our work are to determine the frequency of the Insertion (I) / Deletion (D) polymorphism of the ACE gene (angiotensin-converting enzyme) in diabetic patients with and without nephropathy and to establish the relationship between this polymorphism and nephropathy diabetic in a population of eastern Algeria.Patients and methods - To this end, we recruited twenty-nine diabetic subjects with nephropathy and thirty diabetic controls without nephropathy. DNA extraction was performed on fresh blood by the NaCl method and the I / D polymorphism of the ACE gene was determined by PCR (polymerase chain reaction). Informed consent was obtained from all participants.Results - The average duration of diabetes in our patients is 19.21 ± 9.31 years; that of the controls is 10.67 ± 7.66 years. Type 1 diabetes is more common in nephropaths (72.41%), in controls the frequency of type 2 diabetes is higher (73.33%). Macroangiopathic complications are more prevalent in nephropaths. In addition, the association of two or more complications is frequently found. The frequencies of alleles I and D are respectively 13.79% and 86.21% in the control subjects while the allelic frequencies in the subjects with nephropathy are respectively 19.64% and 80.36%. Conclusion - No significant association between this polymorphism and diabetic nephropathy has been demonstrated.

We report the genetic analysis of a large series of 76 Algerian patients from 65 unrelated families who presented with early onset severe muscular dystrophy and a clinical phenotype resembling limb-girdle muscular dystrophy type 2C.To define the genetic basis of the diseases in these families, we undertook a series of analyses of the γ-sarcoglycan (SGCG) and DMD genes.Fifteen families were shown to carry SGCG variants. Only 2 kinds of causative mutations were identified in the population, mostly in the homozygous state: the well-known c.525delT and the previously described c.87dupT. In the DMD gene, 12 distinctive patterns of deletion were identified, mostly affecting the dystrophin central region.Our data suggest that a simple molecular screen consisting of 2 allele-specific polymerase chain reactions (PCRs) and a set of 3 multiplex PCRs can diagnose half of the patients who present with progressive muscular dystrophy in the developing nation of Algeria. Muscle Nerve 56: 129-135, 2017.

Introduction La dystrophie musculaire de Duchenne de Boulogne (DMD) est secondaire a un deficit en dystrophine qui existe en 7 isotopes dont 3 sont specifiques au cerveau. Objectifs Depister les differents troubles cognitifs et comportementaux observes dans la DMD et etablir des correlations entre ces troubles et le genotype. Methodes Notre etude est prospective. De mai 2016 a juin 2017, nous avons collige 22 patients atteints de DMD confirmes par analyse genetique. Afin de faciliter l’utilisation des tests cognitifs, nous avons selectionne des patients d’âge compris entre 6 et 16 an. Tous nos patients ont beneficie d’une exploration neuropsychologique et d’un avis d’expert en pedopsychiatre. Resultats L’âge moyen de nos patients etait de 09 ans, le QI etait inferieur a 70 dans 81 % des cas. L’alteration de la memoire de travail constitue le deficit cognitif le plus frequent, suivi par l’atteinte de la memoire visuelle puis les troubles du langage. L’etude genetique a objective des deletions distales dans 81 % des cas et proximales dans 18 % des cas. Discussion Nous avons note une correlation etroite entre les mutations distales et les troubles cognitifs, nous n’avons pas objective de correlations entre les troubles du comportement et le type de la mutation. Conclusion Les resultats de notre etude se rapprochent des donnees de la litterature.