Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15).

Background: Homozygous frameshift mutation in RUBCN (KIAA0226), known to result in endolysosomal machinery defects, has previously been reported in a single Saudi family with autosomal recessive spinocerebellar ataxia (Salih ataxia, SCAR15, OMIM # 615705). The present report describes the clinical, neurophysiologic, neuroimaging, and genetic findings in a second unrelated Saudi family with two affected children harboring identical homozygous frameshift mutation in the gene. It also explores and documents an ancient founder cerebellar ataxia mutation in the Arabian Peninsula.

Physical activity and academic achievement among the medical students: A cross-sectional study.

Aims: To explore physical activity (PA) habits among the medical students and examine the correlation with their grade point average (GPA) achievement at College of Medicine, King Saud University, Riyadh, Saudi Arabia.

Methods: A cross-sectional study was conducted among the medical students (n = 409), during the academic year 2012-2013. Students' physical activity habits were self-reported.

No Evidence of Association of the Arg72Pro p53 Gene Polymorphism with Cancer Risk in the Saudi Population: a Meta-Analysis.

Background: Earlier studies on the association between p53 codon 72 Arg>Pro polymorphism and cancer risk were inconclusive and conflicting for the Saudi population. Therefore, we performed a meta-analysis to investigate the relationship between the codon 72 Arg>Pro polymorphism and overall cancer risk in Saudi Arabia.

Materials And Methods: We searched all eligible published studies and data were pooled together to perform the meta-analysis.

Faculty development programs improve the quality of Multiple Choice Questions items' writing.

The aim of this study was to assess the utility of long term faculty development programs (FDPs) in order to improve the quality of multiple choice questions (MCQs) items' writing. This was a quasi-experimental study, conducted with newly joined faculty members. The MCQ items were analyzed for difficulty index, discriminating index, reliability, Bloom's cognitive levels, item writing flaws (IWFs) and MCQs' nonfunctioning distractors (NFDs) based test courses of respiratory, cardiovascular and renal blocks.

Students' perception towards the problem based learning tutorial session in a system-based hybrid curriculum.

Objectives: To evaluate students' perception towards the problem based learning (PBL) session in a system-based hybrid curriculum.

Methods: We conducted a cross-sectional study in the College of Medicine, King Saud University, Saudi Arabia at the end of the 2012-2013 academic year. The survey questionnaire was self-administered, and examined perceptions of PBL session benefits, appropriate running of sessions, and tutor's roles.

Does coenzyme-Q have a protective effect against atorvastatin induced myopathy? A histopathological and immunohistochemical study in albino rats.

Introduction: In addition to their lipid-lowering effect, statins have pleiotropic effects that may extend their use to the treatment and prevention of various other diseases such as cancer, osteoporosis, multiple sclerosis, rheumatoid arthritis, type 2 diabetes, and Alzheimer's disease. Consequently, the number of patients taking statins is expected to increase. A side effect of statins, statin-induced myopathy, which may result from reduced muscular coenzyme Q10 levels, limits their use.

What factors determine academic achievement in high achieving undergraduate medical students? A qualitative study.

Background: Medical students' academic achievement is affected by many factors such as motivational beliefs and emotions. Although students with high intellectual capacity are selected to study medicine, their academic performance varies widely.

Objectives: The aim of this study is to explore the high achieving students' perceptions of factors contributing to academic achievement.

Research methodology workshops evaluation using the Kirkpatrick's model: translating theory into practice.

Background: Qualitative and quantitative evaluation of academic programs can enhance the development, effectiveness, and dissemination of comparative quality reports as well as quality improvement efforts.

Objectives: To evaluate the five research methodology workshops through assessing participants' satisfaction, knowledge and skills gain and impact on practices by the Kirkpatrick's evaluation model.

Methods: The four level Kirkpatrick's model was applied for the evaluation.

Ophthalmic features of PLA2G6-related paediatric neurodegeneration with brain iron accumulation.

Background: Neurodegeneration with brain iron accumulation (NBIA) refers to genetically heterogenous paediatric neurodegenerative disorders characterised by basal ganglia iron deposition. One major cause is recessive mutations in the PLA2G6 gene. While strabismus and optic nerve pallor have been reported for PLA2G6-related disease, the ophthalmic phenotype is not carefully defined.

New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations.

Mutations in PLA2G6 gene have variable phenotypic outcome including infantile neuroaxonal dystrophy, atypical neuroaxonal dystrophy, idiopathic neurodegeneration with brain iron accumulation and Karak syndrome. The cause of this phenotypic variation is so far unknown which impairs both genetic diagnosis and appropriate family counseling. We report detailed clinical, electrophysiological, neuroimaging, histologic, biochemical and genetic characterization of 11 patients, from 6 consanguineous families, who were followed for a period of up to 17 years.

A newly recognized autosomal recessive syndrome affecting neurologic function and vision.

Genetic factors represent an important etiologic group in the causation of intellectual disability. We describe a Saudi Arabian family with closley related parents in which four of six children were affected by a congenital cognitive disturbance. The four individuals (aged 18, 16, 13, and 2 years when last examined) had motor and cognitive delay with seizures in early childhood, and three of the four (sparing only the youngest child) had progressive, severe cognitive decline with spasticity.

Study of dual angiogenic/neurogenic growth factors among Saudi autistic children and their correlation with the severity of this disorder.

Objective: To investigate the role of 2 angiogenic/neurogenic growth factors, vascular endothelial growth factor (VEGF), and platelet-derived growth factor (PDGF) in Saudi children with autism.

Methods: The study included a total of 60 children that included 20 controls and 40 patients with a confirmed diagnosis of autism. The study was conducted in the Department of Physiology, Faculty of Medicine, King Saud University, and in the Autism Research and Treatment Center, King Khalid University Hospital, Riyadh, Kingdom of Saudi Arabia between May 2010 and April 2011.

Inhibition of proinflammatory cytokines by SCH79797, a selective protease-activated receptor 1 antagonist, protects rat kidney against ischemia-reperfusion injury.

Renal ischemia-reperfusion injury (I/R) is the most common cause of acute renal failure. It is partially mediated by thrombin as it is attenuated by thrombin inhibition or deletion of its receptor protease-activated receptor 1 (PAR1). However, the role of PAR1 in renal I/R injury needs to be further elucidated.

The neurology of carbonic anhydrase type II deficiency syndrome.

Carbonic anhydrase type II deficiency syndrome is an uncommon autosomal recessive disease with cardinal features including osteopetrosis, renal tubular acidosis and brain calcifications. We describe the neurological, neuro-ophthalmological and neuroradiological features of 23 individuals (10 males, 13 females; ages at final examination 2-29 years) from 10 unrelated consanguineous families with carbonic anhydrase type II deficiency syndrome due to homozygous intron 2 splice site mutation (the 'Arabic mutation'). All patients had osteopetrosis, renal tubular acidosis, developmental delay, short stature and craniofacial disproportion with large cranial vault and broad forehead.

Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia.

We have identified a novel form of recessive ataxia that segregates in three children of a large consanguineous Saudi Arabian family. The three patients presented with childhood onset gait and limb ataxia, dysarthria and had limited walking without aid into their teenage years. Two patients developed epilepsy at 7 months without relapse after treatment, and mental retardation.

F-ratio, a surrogate marker of carpal tunnel syndrome.

Objective: To explore the correlation of F-ratio and F-wave minimal latency (FWML) in carpal tunnel syndrome (CTS).

Methods: This retrospective study was conducted from January 2006 to January 2007 at the clinical physiology lab, King Abdul-Aziz University Hospital, Riyadh, Saudi Arabia. Motor and sensory nerve conduction studies, FMW latencies of median and ulnar nerves, and F-ratio were carried out in 54 CTS patients and 30 controls.

Ophthalmic features of Joubert syndrome.

Purpose: Joubert syndrome (Online Mendelian Inheritance in Man 213300) is a rare autosomal recessive congenital malformation of the brainstem and cerebellar vermis. Diagnosis is based on characteristic clinical features (e.g.

Assessment of respiratory muscles endurance in diabetic patients.

Objective: Respiratory muscle endurance is of interest in pulmonary, critical care and many other areas of medicine. The maximal voluntary ventilation (MVV) test is an objective dynamic method for measuring the working capacity of respiratory muscles. Therefore, we designed the present study to determine the effect imposed by diabetes mellitus on respiratory muscle endurance in Saudi diabetic patients.

Estrogen protects cardiac myogenic (H9c2) rat cells against lethal heat shock-induced cell injury: modulation of estrogen receptor alpha, glucocorticoid receptors, heat shock protein 70, and iNOS.

In the present study we have established that exposure of rat cardiac myoblasts (H9c2 cells) to 46 degrees C for 1 hour (lethal heat shock) resulted in optimal cell injury as determined by lactate dehydrogenase release. Pretreatment of H9c2 cells for 24 hours with 17beta-estradiol significantly protects myoblasts against subsequent lethal heat shock exposure in a concentration-dependent manner with maximum protection obtained at 1 microM of 17beta-estradiol. With Western blotting, it was observed that 17beta-estradiol-protected cells had significantly higher levels of the estrogen receptor alpha and inducible heat shock protein 70 (hsp70) as well as inducible nitric oxide synthase (iNOS) levels compared with lethal heat shock-exposed cells.

Tamoxifen protects clonal mouse hippocampal (HT-22) cells against neurotoxins-induced cell death.

In the present work using an established clonal mouse hippocampal (HT-22) cell line, we have examined whether the estrogen antagonist tamoxifen antagonizes the observed neuroprotective effects of estrogen against glutamate and amyloid beta protein neurotoxicity. Results obtained suggest that like estrogen, tamoxifen protects HT-22 cells against both 5mM glutamate and 2 microM amyloid beta protein induced cell death in a concentration dependent manner. Optimum protection was obtained at 500 nM tamoxifen.