The Abundance of Plasmid-Mediated Quinolone Resistance Genes in Strains Isolated from Clinical Specimens in Kermanshah, Iran.

Background: () is one of the most common causing nosocomial infections. Plasmid-mediated quinolone resistance (PMQR) determinants have been considered recently. This study evaluated the abundance of PMQR genes in strains of obtained from clinical samples in Kermanshah, Iran.

Clinical and molecular characterization of 1q43q44 deletion and corpus callosum malformations: 2 new cases and literature review.

Background: Corpus callosum malformations (CCM) represent one of the most common congenital cerebral malformations with a prevalence of around one for 4000 births. There have been at least 230 reports in the literature concerning 1q43q44 deletions of varying sizes discovered using chromosomal microarrays. This disorder is distinguished by global developmental delay, seizures, hypotonia, corpus callosum defects, and significant craniofacial dysmorphism.

Neuronal ceroïd-lipofuscinosis: Clinical, electroencephalographic, imaging, and genetic study of a maghrebian series.

Our study included 13 patients diagnosed with neuronal ceroidlipofuscinosis. It is a group of rare genetically-determined neurodegenerativediseases characterized by clinical and genetic heterogeneity. brain MRI andelectroencephalogram facilitate diagnosis.

Effect of Prophylactic Caffeine on Noninvasive Respiratory Support in Preterm Neonates Weighing 1250-2000 g: A Randomized Controlled Trial.

Background: Caffeine is commonly used to prevent or treat apnea in preterm neonates. The present trial was designed to determine the effect of caffeine on reducing the time required for nasal continuous positive airway pressure (NCPAP) in neonates with respiratory distress syndrome (RDS).

Methods: In a randomized controlled trial, a total of 90 neonates (birth weight between 1250 and 2000 g) who were clinically diagnosed with RDS were subjected to random assignment to one of the two groups of caffeine (n=45) or control (n=45).

Identification and Characterization of a Novel Recurrent Variant in Patients with a Severe Form of Cockayne Syndrome B.

Cockayne syndrome (CS) is a rare disease caused by mutations in / or /. We report here the clinical, genetic, and functional analyses of three unrelated patients mutated in / with a severe phenotype. After clinical examination, two patients were investigated via next generation sequencing, targeting seventeen Nucleotide Excision Repair (NER) genes.

Psychostimulants for cancer-related cognitive impairment in adult cancer survivors: a systematic review and meta-analysis.

Background: Cognitive impairment is recognized as a common symptom experienced by cancer survivors which impacts on quality of life (QoL) and day-to-day activities. One of the treatment options is the use of psychostimulants but the evidence supporting its use remains unclear.

Objectives: To identify the level of evidence of psychostimulants' effect on the management of cognitive impairment in adult cancer survivors.

Determination of arylsulfatase A pseudodeficiency allele and haplotype frequency in the Tunisian population.

Arylsulfatase A (ASA) is a lysosomal enzyme involved in the catabolism of cerebroside sulfate. ASA deficiency is associated with metachromatic leukodystrophy (MLD). Low ASA activities have also been reported in a more common condition with no apparent clinical consequences termed ASA pseudo-deficiency (ASA-PD) which is associated with two linked mutations in the ASA gene (c.

Association study of mitochondrial DNA polymorphisms with type 2 diabetes in Tunisian population.

Mitochondrial DNA (mtDNA) variation may play an important role in the pathogenesis of type 2 diabetes (T2Ds). In this study, we aimed to explore whether mtDNA variants contribute to the susceptibility to T2Ds in a Tunisian population. The hypervariable region 1 (HVS1) of the mtDNA of 64 T2Ds patients and 77 healthy controls was amplified and sequenced.

Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients.

Sanfilippo syndrome (mucopolysaccharidosis type III, MPS III) is a progressive disorder in which patients are characterized by severe central nervous system degeneration together with mild somatic disease. MPS III results from a deficiency in one of the four enzymes involved in the heparan sulfate degradation, with sulfamidase (SGSH), α-N-acetylglucosaminidase (NAGLU), acetyl-coenzyme A: α-glucosaminide N-acetyltransferase (HGSNAT), and N-acetylglucosamine-6-sulfatase (GNS) being deficient respectively in MPS IIIA, MPS IIIB, MPS IIIC and MPS IIID. Mutation screening using PCR reaction/sequencing analysis on genomic DNA fragments was performed in seven Tunisian index cases with MPS IIIA, three with MPS IIIB and two with MPS IIIC.

Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD).

Metachromatic leukodystrophy (MLD) is an autosomal recessive, lysosomal storage disease caused by a deficiency of the enzyme arylsulfatase A (ARSA). The aim of the present study was to identify the molecular basis of MLD in Tunisian population. Two Tunisian patients with late infantile MLD were studied.

Phenotypic spectrum of fucosidosis in Tunisia.

Fucosidosis (OMIM 230000) is a rare autosomal recessive lysosomal disorder due to deficient α-L-fucosidase activity(EC 3.2.1.

Molecular analysis of the SMN1 and NAIP genes in 60 Tunisian spinal muscular atrophy patients.

In this study we examined the deletion of SMN and NAIP genes in 60 Tunisian families. There were 35 patients with type I SMA. 18 with type II SMA.

[Developmental dysphasia].

Developmental dysphasia is a specific, primary and lasting oral language disorder (expressive or comprehensive) is the absence of any sensorineural damage oral organ dystunction or psychiatric and psychologic disorders. Pathogensis is still unknown. Diagnosis is based on exprssive and comprehensive language investigation.

Progressive encephalomyelitis with rigidity presenting as a stiff-person syndrome.

Diagnosis criteria of stiff-person syndrome (SPS) include progressive, fluctuating muscular rigidity and spasms with normal neurological examination. The presence of unusual features such as prominent limb rigidity with segmental signs and contracture, evidence of brainstem dysfunction, profound autonomic disturbances, CSF pleiocytosis or MRI abnormalities in patients with SPS presentation allows to classify these patients as progressive encephalomyelitis with rigidity (PER). We report a 50 year-old woman suffering from severe painful spasms of abdominal wall and limb muscles.

Intrafamilial phenotypic variability of Hallervorden-Spätz syndrome in a Tunisian family.

We report clinical features, CT-scan and MRI findings of three siblings with Hallervorden-Spätz disease, one of them followed for more than 20years. Patient 1 presented at age 10 with progressive generalized dystonia. Five years later she had violent dystonic spasms with opisthotonos and marked oro-mandibular involvement.

[Vermian agenesis: Report of a family and review of the literature].

Vermian agenesis constitute an heterogeneous group of clinical and neuroradiological entities with different prognosis. Authors report a kindred with vermian agenesis associated to characteristic facial dysmorphy and to mental retardation. After review of the literature, we found no previous description of such an association.

Cognitive and psychological profile of a Tunisian population of limb girdle muscular dystrophy.

This study assesses the cognitive functioning of a Tunisian population suffering from limb girdle muscular dystrophy (LGMD). The population was randomly selected from patients referred to the outpatient clinic of the National Institute of Neurology of Tunis. The only criterion for inclusion was the absolute proof of this type of disease through clinical assessments, an immunohistochemical muscle study (dystrophin positive) and linkage study.

Juvenile form of dihydropteridine reductase deficiency in 2 Tunisian patients.

Two brothers are described who had juvenile-onset DHPR deficiency. Both were considered normal until six years of age when they developed a fluctuating and progressive encephalopathy combining mental retardation, epilepsy, pyramidal, cerebellar and extrapyramidal signs.

Dihydropteridine reductase deficiency in a large consanguineous Tunisian family: clinical, biochemical, and neuropathologic findings.

We report the case of a large consanguineous Tunisian family of seven siblings suffering from dihydropteridine reductase deficiency with either typical clinical, biochemical, or autopsy findings. Two cousins also were reported to have the same symptoms. This metabolic disorder is characterized by severe microcephaly, psychomotor regression, and progressive basal ganglia calcifications.

[Primary immunodeficiency in Tunisia: study of 152 cases].

Background: Primary immunodeficiencies are rare immunopathological disorders. A multidisciplinary study group was set up in Tunis in 1988 and has since identified 152 cases of such diseases. We herein present our series and compare it to the international registries.

Submicroscopic deletions of 17p13.3 in type 1 Lissencephaly.

DNA markers YNZ22.1 and YNH37.3 were studied by Southern blotting in 14 patients with typical (11 cases) and atypical (3 cases) type 1 Lissencephaly, all with normal high resolution karyotype.