HLA class I and class II alleles and haplotypes of Algerian population from Algiers and neighbouring area.

In this study, we aimed to investigate the current genetic diversity and provide additional insights into the origins of the Algerian population by analyzing the frequencies of HLA -A,-B,-DRB1,-DQB1 alleles and associated haplotypes. We analyzed 1,082 unrelated healthy Algerian individuals, who were potential kidney donors, recruited and assessed in the Immunology Department of CHU Mustapha in Algiers over a 10-year period (2009-2019). HLA genotyping was performed by Polymerase Chain Reaction Sequence Specific Primers (PCR-SSP).

Congenital myasthenic syndromes by Epsilon subunit mutations: Phenotypic profiles of 17 Algerian families.

Background: Congenital myasthenic syndromes (CMS) are a heterogeneous group of rare genetic disorders. The acetyl choline receptor contains five subunits, with a predominance of mutations affecting the epsilon subunit gene called cholinergic receptor nicotinic epsilon (CHRNE) gene.

Objective: To study the clinical phenotype of 17 families with CHRNE gene mutations.

Disease activity score for still's disease.

Objective: To develop the Still's Disease Activity Score (SDAS).

Methods: We used data from the prospective adult-onset Still's disease cohort study and evaluated the disease activity. An expert group selected the most frequent, reproducible, and objective variables significantly modified in statistical analysis when comparing patients in the active group and in the remission group.

Off-pump Coronary Surgery Combined With Aortic Valve Replacement Under Hypothermic Circulatory Arrest Within an Unexpected Porcelain Aorta.

Unexpected porcelain aorta is a real challenge to safely completing aortic valve replacement combined with coronary artery surgery. This condition often leads to an aborted sternotomy in the hope of performing transcatheter procedures, the feasibility of which may be hampered by anatomical considerations. We report the case of a 71-year old man with history of hypertension, type 2 diabetes mellitus and chronic kidney disease, which was referred for severe aortic valve stenosis and severe coronary artery disease.

Innovative Therapeutic Approaches in Congenital Myasthenic Syndromes.

Background And Objectives: To provide real-word clinical follow-up data on patients carrying variations of congenital myasthenic syndromes (CMS) and who respond to some innovative drugs.

Methods: Patients recruited from the Neurology Department of the Mustapha Bacha university hospital in Algiers. Treated with innovative drugs, they were monitored and their clinical progress was evaluated on the basis of clinical arguments suggestive of CMSs, but also para clinical arguments (electromyography and genetic study).

The risk of metabolic syndrome is associated with vitamin D and inflammatory status in premenopausal and postmenopausal Algerian women.

Background: This first cross-sectional study examined whether vitamin D status and proinflammatory cytokines may be associated with metabolic syndrome (MetS) in Algerian women regarding their menopausal status.

Methods: Fasting plasma glucose (FPG), lipids, insulin, 25(OH)D, PTH, adiponectin, resistin, TNFα, and IL-6 levels were assessed in 277 participants aged 18-74 years. MetS was diagnosed according to NCEP-ATPIII criteria.

Proposal of a new diagnostic algorithm for adult-onset Still's disease.

Objective: This study was performed to develop a new diagnostic algorithm for adult-onset Still's disease (AOSD).

Methods: We conducted a multicenter prospective nationwide case-control study in tertiary Internal Medicine, Rheumatology, and Infectious Diseases departments, to include successively patients with suspected AOSD based on the presence of two or more major criteria of Yamaguchi and/or Fautrel classifications. Patients were classified as AOSD or controls according to a predefined procedure.

Validation of the neutrophil-to-lymphocyte ratio as a new simple biomarker of adult onset Still's disease: A STROBE-Compliant prospective observational study.

This study was performed to investigate the role of neutrophil-to-lymphocyte ratio (NLR) in the diagnosis of adult onset Still disease (AOSD) and its performance to improve the sensitivity of the classifications criteria (Yamaguchi and Fautrel Classifications). We conducted a multicenter prospective nationwide case-control study in Internal medicine, Rheumatology and Infectious disease departments, to include successively patients with suspected AOSD (2 or more major criteria of Yamaguchi or Fautrel classifications). All clinical and biological features were collected in a consensual and standardized clinical assessment at baseline and during follow-up.

Applicability of the commonly used risk scores for coronary bypass surgery in Algeria.

Objectives: The applicability of European system for cardiac operative risk evaluation II (EuroSCORE II) and the Society of Thoracic Surgeons Predicted Risk Of Mortality (STS-PROM) as well as the initial logistic Parsonnet risk score, who have been developed from European and American datasets, is questionable outside these regions. We aimed to assess the performance of these three risk scores for patients undergoing isolated coronary artery bypass grafting (CABG) in Algeria.

Methods: Between June 2014 and June 2016, data from 235 consecutive patients, who underwent isolated CABG at a reference center in Algiers, were prospectively collected and scored according to the EuroSCORE II, STS-PROM and the Parsonnet score.

Moderate phenotype of a congenital myasthenic syndrome type 19 caused by mutation of the COL13A1 gene: a case report.

Background: Congenital myasthenic syndromes caused by mutations in the COL13A1 gene are very rare and have a phenotype described as severe. We present the first case of congenital myasthenic syndrome described in Algeria and the Maghreb with a new mutation of this gene.

Case Presentation: We present an 8-year-old Algerian female patient, who presented with a moderate phenotype with bilateral ptosis that fluctuates during the day and has occurred since birth.

Characterization of Recessive Parkinson Disease in a Large Multicenter Study.

Studies of the phenotype and population distribution of rare genetic forms of parkinsonism are required, now that gene-targeting approaches for Parkinson disease have reached the clinical trial stage. We evaluated the frequencies of PRKN, PINK1, and DJ-1 mutations in a cohort of 1,587 cases. Mutations were found in 14.

T300A variant of AT16L1 gene in a cohort of Algerian Crohn disease patients.

The T300A variant is among the most Crohn's disease (CD) associated genetic variants. The aim of our study is to bring a first insight about the contribution of the T300A variant in a cohort of Algerian CD. In a case/control design, 118 Algerian CD patients and 161 unrelated healthy subjects were genotyped for the T300A variant using the allelic discrimination test by Applied Biosystems Taqman genotyping technology.