Objective: There is great interest in the identification of genetic factors that differentiate psoriatic arthritis (PsA) from psoriasis vulgaris (PsV), as such discoveries could lead to the identification of distinct underlying aetiological pathways. Recent studies identified single nucleotide polymorphisms (SNPs) in the interleukin 13 (IL-13) gene region as risk factors for PsV. Further investigations in one of these studies found the effect to be primarily restricted to PsA, thus suggesting the discovery of a specific genetic risk factor for PsA.
View Article and Find Full Text PDFThe cellular response to the Drosophila BMP 2/4-like ligand Decapentaplegic (DPP) serves as one of the best-studied models for understanding the long-range control of tissue growth and pattern formation during animal development. Nevertheless, fundamental questions remain unanswered regarding extracellular regulation of the ligand itself, as well as the nature of the downstream transcriptional response to BMP pathway activation. Here, we report the identification of larval translucida (ltl), a novel target of BMP activity in Drosophila.
View Article and Find Full Text PDFGardner's syndrome (GS) is a dysplasia characterized by neoformations of the intestine, soft tissue, and osseous tissue. Endocrine neoplasms have occasionally been reported in association with GS. Adrenal masses in GS are rare, and few have displayed clinical manifestations.
View Article and Find Full Text PDFIn May 2010, a nationwide excess of infections with the specific monophasic variant Salmonella enterica serotype 4,12:i:- was investigated in France. Subtyping with multilocus variable number of tandem repeats analysis revealed a distinct epidemic strain within this excess. Epidemiological investigations identified a dried pork sausage sold by a particular chain of supermarkets as the likely vehicle of transmission.
View Article and Find Full Text PDFAt the end of 2009, six food poisoning outbreaks caused by staphylococci were reported in France. Soft cheese made from unpasteurized milk was found to be the common source of the outbreaks. Staphylococcal enterotoxin type E was identified and quantified in the cheese using both official and confirmatory methods of the European Union Reference Laboratory (EU-RL).
View Article and Find Full Text PDFThis report describes a set of scientific procedures used to assess the impact of foods and food ingredients on the expression of appetite (psychological and behavioural). An overarching priority has been to enable potential evaluators of health claims about foods to identify justified claims and to exclude claims that are not supported by scientific evidence for the effect cited. This priority follows precisely from the principles set down in the PASSCLAIM report.
View Article and Find Full Text PDFThe objective of the study is to screen 12 MEFV gene mutations in Egyptian patients with familial Mediterranean fever (FMF) and to study the initial hypothesis that the phenotypic expression of the disease may be attributable to the existence of a particular mutation. We enrolled 136 Egyptian patients (74 males, and 62 females) with a clinical diagnosis of FMF. DNA was amplified by PCR and subjected to reverse hybridization for the detection of 12 MEFV gene mutations.
View Article and Find Full Text PDFBackground: There is limited information on the disease burden due to foodborne pathogens in the eastern Mediterranean region. This study estimates the burden of disease in Jordan for Salmonella, Shigella, and Brucella during 1 year.
Methods: Nationwide population and laboratory surveys were conducted during September 2003 and May 2004, and burden of disease estimates were calculated.
Objective: The aim of the present study was to evaluate and compare angiogenesis in keratocystic odontogenic tumours, dentigerous cysts (DCs) and ameloblasomas using monoclonal antibody against CD34.
Materials And Methods: Microvessel density was assessed in a total of 53 cases including 20 keratocystic odontogenic tumours, 13 DCs and 20 ameloblastomas (14 solid and six unicystic variants). Microvessel density was expressed as the mean number of microvessels per high-power-field.
Objective: Implementing high-intensity staffing model improves outcome in general intensive care units (ICUs). We studied the effect of implementing such a model on the outcome of critically ill medical patients in an oncology ICU.
Design: We compared admission rates, ICU mortality rates (MRs), 28-day MRs, length of stay (LOS) for patients discharged alive, and bed turnover rates of medical patients admitted to the ICU in the year 2004 (before an intensivist model was established) with those in the years 2006 and 2007 (after the model was established).
The aim of the study was to study the characteristics of systemic lupus erythematosus (SLE) in the Egyptian population, comparing it to other populations. We retrospectively studied 207 patients with SLE diagnosed between 1990 and 2005. We obtained clinical features and laboratory data and analyzed them statistically.
View Article and Find Full Text PDFPurpose: To describe a previously unreported clinical entity of progressive extensive macular atrophy and pseudodrusen-like appearance in middle-aged patients.
Design: Clinical, electrophysiologic, and molecular retrospective study.
Methods: The database of an outpatient clinic unit for genetic sensory diseases was screened for patients older than 40 years with uncharacterized macular dystrophy.
The lipophilic yeast of the genus Malassezia are opportunistic microorganisms of the skin microflora but they can be agents of various dermatomycoses. The aim of this study was to perform molecular identification of the commonly isolated Malassezia species from various dermatomycoses in our region. Thirty strains of Malassezia were isolated from different dermatologic affections: pityriasis versicolor (17), dandruff (5), seborrheic dermatitis (4), onyxis (2), folliculitis (1) and blepharitis (1).
View Article and Find Full Text PDFPurpose: To describe patients with cone dystrophy and supernormal rod electroretinogram (ERG) and search for mutations in the recently described KCNV2 gene.
Design: Clinical and molecular study.
Methods: Patients from three families originating from France, Morocco, and Algeria had standard ophthalmologic examination and color vision analysis, Goldmann perimetry, International Society for Clinical Electrophysiology of Vision (ISCEV) protocol in accordance with ERG testing, autofluorescence evaluation, and optical coherence tomography 3 scanning.
Rev Laryngol Otol Rhinol (Bord)
April 2008
Objective: To assess the benefit of cochlear implant in children presenting an Usher type 1 syndrome (speech understanding, speech production intelligibility, academic performance) and to search any correlation between the phenotype and the genotype in this population.
Materials And Methods: Retrospective case series analysis about 13 implanted Usher type I children. Cochlear implantation was performed from 1995 to 2005.
Genetic polymorphisms in neuronal nitric oxide synthase (NOS1) and calmodulin-dependent endothelial NOS (NOS3) genes are known to influence the course of allergic respiratory disorders. We investigated the role of NOS1 -84 G-->A and NOS3 -786 T-->C, 894 G-->T and 27 base pair (bp) repeat polymorphisms in 125 patients suffering from asthma and/or rhinitis and monosensitized against Dermatophagoides pteronyssinus (Dpter) and 111 controls from Algeria. We found a higher frequency of the -786 C NOS3 allele in patients than in controls [corrected P value (Pc) = 0.
View Article and Find Full Text PDFThe usherin gene (USH2A) has been screened for mutations causing Usher syndrome type II (USH2). Two protein isoforms have been identified: a short isoform of 1,546 amino acids and a more recently recognized isoform extending to 5,202 amino acids. We have screened the full length by genomic sequencing.
View Article and Find Full Text PDFAcanthamoeba keratitis is a rare but severe corneal infection which, despite improvements in diagnosis and treatment, still culminates in prolonged morbidity and significant loss of visual acuity. We present the case report of the first identification of Acanthamoeba as a causative agent of keratitis in Tunisia. Case no 1: A 20-year-old girl, nearsighted corrected with soft contact lenses, suffering from a deep corneal inflammation and poor visual acuity The ophthalmological examination showed bilateral dendritiform epithelial keratitis.
View Article and Find Full Text PDFAppl Environ Microbiol
September 2006
Free-living amoebae in water are hosts to many bacterial species living in such an environment. Such an association enables bacteria to select virulence factors and survive in adverse conditions. Waterborne mycobacteria (WBM) are important sources of community- and hospital-acquired outbreaks of nontuberculosis mycobacterial infections.
View Article and Find Full Text PDFTriple A or Allgrove syndrome is a rare autosomal recessive disease with alacrima, achalasia, and ACTH-resistant adrenal insufficiency. It is usually associated with neurological disorders. Recently, mutations in the AAAS, a candidate gene mapped to chromosome 12q13, were identified.
View Article and Find Full Text PDFBackground: A large percentage of Liverpool Somalis have vitamin D deficiency and low calcium excretion. The dietary habits of Liverpool Somalis were investigated with respect to food items containing calcium and vitamin D.
Methods: A questionnaire, administered by a Somali field worker, assessed the intake of food of 60 adult (45 females and 15 males; mean age 42 years) and 10 child (seven females and three males; mean age 10 years) Somali volunteers.
Purpose: To evaluate the efficacy and safety of subconjunctival injections of clindamycin associated with oral corticotherapy in the treatment of toxoplasmic retinochoroiditis (TRC) and its effect on recurrence.
Patients And Methods: This study investigated 21 patients (10 males and 11 females) who presented to an ophthalmological department from 1995 to 2000, aged 14-55 years (mean, 28 years), with unilateral TRC. They were treated with subconjunctival injections of clindamycin and systemic corticotherapy at a dose of 1 mg/kg/day.