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.

Crucial Interactions between Altered Plasma Trace Elements and Fatty Acids Unbalance Ratio to Management of Systemic Arterial Hypertension in Diabetic Patients: Focus on Endothelial Dysfunction.

The coexistence of SAH with T2DM is a common comorbidity. In this study, we investigated the link between altered plasma antioxidant trace elements (ATE: manganese, selenium, zinc, and copper) and fatty acids ratio (FAR: polyunsaturated/saturated) imbalance as transition biomarkers between vascular pathology (SAH) to metabolic pathology (T2DM). Our data revealed strong correlation between plasma ATE and FAR profile, which is modified during SAH-T2DM association compared to the healthy group.

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.

Reconsidering vitamin D optimal values based on parathyroid hormone levels in a North Algerian cohort: stratification by gender and season.

Unlabelled: "Health-based threshold value" is used to define the optimal cutoff of vitamin D. This approach is based on the hypothesis of a secondary hyperparathyroidism associated with hypovitaminosis D. We define the optimal values in a North Algerian population.

Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome.

Usher syndrome (USH) is an autosomal recessive disorder characterized by a dual sensory impairment affecting hearing and vision. USH is clinically and genetically heterogeneous. Ten different causal genes have been reported.

A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian family.

Congenital deafness is certainly one of the most common monogenic diseases in humans, but it is also one of the most genetically heterogeneous, which makes molecular diagnosis challenging in most cases. Whole-exome sequencing in two out of three Algerian siblings affected by recessively-inherited, moderate to severe sensorineural deafness allowed us to identify a novel splice donor site mutation (c.5272+1G > A) in the gene encoding α-tectorin, a major component of the cochlear tectorial membrane.

IL36RN Mutations Affect Protein Expression and Function: A Basis for Genotype-Phenotype Correlation in Pustular Diseases.

Homozygous or compound heterozygous IL36RN gene mutations underlie the pathogenesis of psoriasis-related pustular eruptions including generalized pustular psoriasis, palmoplantar pustular psoriasis, acrodermatitis continua of Hallopeau, and acute generalized exanthematous pustular eruption. We identified two unreported IL36RN homozygous mutations (c.41C>A/p.

The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells.

Protocadherin-15 (Pcdh15) is a component of the tip-links, the extracellular filaments that gate hair cell mechano-electrical transduction channels in the inner ear. There are three Pcdh15 splice isoforms (CD1, CD2 and CD3), which only differ by their cytoplasmic domains; they are thought to function redundantly in mechano-electrical transduction during hair-bundle development, but whether any of these isoforms composes the tip-link in mature hair cells remains unknown. By immunolabelling and both morphological and electrophysiological analyses of post-natal hair cell-specific conditional knockout mice (Pcdh15ex38-fl/ex38-fl Myo15-cre+/-) that lose only this isoform after normal hair-bundle development, we show that Pcdh15-CD2 is an essential component of tip-links in mature auditory hair cells.

IFN-γ and TNF-α are involved during Alzheimer disease progression and correlate with nitric oxide production: a study in Algerian patients.

Alzheimer's disease (AD) is a neurodegenerative disease leading to a progressive and irreversible loss of mental functions. It is characterized by 3 stages according to the evolution and the severity of the symptoms. This disease is associated with an immune disorder, which appears with significant rise in the inflammatory cytokines and increased production of free radicals such as nitric oxide (NO).

EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness.

Background: Almost 90% of all cases of congenital, non-syndromic, severe to profound inherited deafness display an autosomal recessive mode of transmission (DFNB forms). To date, 47 causal DFNB genes have been identified, but many others remain to be discovered. We report the study of two siblings born to consanguineous Algerian parents and affected by isolated, profound congenital deafness.

[Preliminary evaluation of the antioxidant trace elements in an Algerian patient with type 2 diabetes: special role of manganese and chromium].

In type 2 diabetes, the relationship between antioxidants and insuline-like trace elements is very complex during oxidative stress, being mediated by hyperglycemia, dyslipidemia and inflammation. We investigated the antioxidant status, particularly Mn and Cr on the diabetes metabolic control, and their interaction with the metabolic syndrome (MS) parameters. The study was undertaken on 278 Algerian diabetic subjects who were divided in 2 groups according to glycated hemoglobin (HbA(1c)) <7% or >7% value, attesting for a good or poor metabolic control of diabetes, respectively.

Polymorphisms in NAT2 gene and atherosclerosis in an Algerian population.

Background And Aims: The etiology of atherosclerosis is multifactorial. Genetic and environmental factors are involved in the development of atherosclerosis. Human arylamine N-acetyltransferase 2 (NAT2) is an important metabolizing enzyme that exhibits genetic polymorphisms and modifies individual response and/or toxicity to many xenobiotics.

Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F.

A systematic approach, involving haplotyping and genotyping, to the molecular diagnosis of non-syndromic deafness within 50 families and 9 sporadic cases from Algeria is described. Mutations at the DFNB1 locus (encompassing the GJB2 and GJB6 genes) are responsible for more than half of autosomal recessive prelingual non-syndromic deafness in various populations. A c.

A predominantly neolithic origin for Y-chromosomal DNA variation in North Africa.

We have typed 275 men from five populations in Algeria, Tunisia, and Egypt with a set of 119 binary markers and 15 microsatellites from the Y chromosome, and we have analyzed the results together with published data from Moroccan populations. North African Y-chromosomal diversity is geographically structured and fits the pattern expected under an isolation-by-distance model. Autocorrelation analyses reveal an east-west cline of genetic variation that extends into the Middle East and is compatible with a hypothesis of demic expansion.

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.

Ullrich congenital muscular dystrophy (UCMD) is an autosomal recessive disorder characterized by generalized muscular weakness, contractures of multiple joints, and distal hyperextensibility. Homozygous and compound heterozygous mutations of COL6A2 on chromosome 21q22 have recently been shown to cause UCMD. We performed a genomewide screening with microsatellite markers in a consanguineous family with three sibs affected with UCMD.