De novo mutation in the KCNQ1 gene causal to Jervell and Lange-Nielsen syndrome.

Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive disorder, clinically characterized by severe cardiac arrhythmias [due to prolonged QTc interval in electrocardiogram (ECG)] and bilateral sensory neural deafness. Molecular defects causal to JLNS are either homozygous or compound heterozygous mutations, predominantly in the KCNQ1 gene and occasionally in the KCNE1 gene. As the molecular defect is bi-allelic, JLNS patients inherit one pathogenic mutation causal to the disorder from each parent.

The association between watching television and obesity in children of school-age in Saudi Arabia.

Background: There is little information on the association between watching Television (TV) and obesity in the Arabian Peninsula.

Aim Of The Study: The aim of this study was to explore the association between the watching of television and obesity in Saudi children of school-age.

Materials And Methods: A case-controlled study was conducted with students between the ages of 9 and 14 years who attended the school health clinic in King Abdulaziz Housing for National Guard (Iskan), Riyadh, Saudi Arabia, during the study period (February to April 2012).

The impacts of dental filling materials on RapidArc treatment planning and dose delivery: challenges and solution.

Purpose: The presence of high-density material in the oral cavity creates dose perturbation in both downstream and upstream directions at the surfaces of dental filling materials (DFM). In this study, the authors have investigated the effect of DFM on head and neck RapidArc treatment plans and delivery. Solutions are proposed to address (1) the issue of downstream dose perturbation, which might cause target under dosage, and (2) to reduce the upstream dose from DFM which may be the primary source of mucositis.

Long-term efficacy of the hepatitis B vaccine in a high-risk group.

Chronic infection with hepatitis B virus (HBV) is a global health problem. In an attempt to control infection, worldwide HBV vaccination programs have been established. Saudi Arabia, an endemic area for HBV infection, established an HBV immunization program in 1989.

Prevalence and factors associated with neck, shoulder and low back pains among medical students in a Malaysian Medical College.

Background: The main purpose of the study was to assess the prevalence, body distributions and factors associated with musculoskeletal pain (MSP) among medical students in a private Malaysian medical college.

Method: This cross-sectional study was conducted among 232 medical students in a private medical college using an online questionnaire. The questionnaire was a modified Standardized Nordic Questionnaire focused on neck, shoulder and low back pain in the past week and the past year.

Traumatic diaphragmatic hernia: delayed presentation with tension viscerothorax--lessons to learn.

Diaphragmatic rupture is a serious complication of thoracoabdominal trauma. The condition may be missed initially. We describe the clinical course of a patient who sustained blunt abdominal trauma in a car accident.

Utilizing NMR and EPR spectroscopy to probe the role of copper in prion diseases.

Copper is an essential nutrient for the normal development of the brain and nervous system, although the hallmark of several neurological diseases is a change in copper concentrations in the brain and central nervous system. Prion protein (PrP) is a copper-binding, cell-surface glycoprotein that exists in two alternatively folded conformations: a normal isoform (PrP(C)) and a disease-associated isoform (PrP(Sc)). Prion diseases are a group of lethal neurodegenerative disorders that develop as a result of conformational conversion of PrP(C) into PrP(Sc).

Potential new indication for ivabradine: treatment of a patient with congenital junctional ectopic tachycardia.

Ivabradine is a new antiarrhythmic agent with direct inhibition of the pacemaker (If) current. It has been used extensively to decrease sinus rate in the treatment of cardiac failure, and also in a single case of atrial ectopic tachycardia in a child. Here we report the case of a 3-year-old girl with congenital junctional ectopic tachycardia (JET), resistant to conventional antiarrhythmic medications, who was successfully treated with ivabradine.

Role of IVUS in Assessing Spontaneous Coronary Dissection: a Case Report.

Spontaneous coronary artery dissection (SCAD) is a rare condition that can result in unstable angina, acute myocardial infarction, and sudden death. This condition may occur particularly in women during late pregnancy and in the postpartum period. We present the case of a 33-year-old African American woman, who had spontaneous left anterior descending coronary artery (LAD) dissection two weeks postpartum, resulting in acute ST-segment elevation myocardial infarction with severe left ventricular dysfunction.

The outcome of pharmacist counseling at the time of hospital discharge: an observational nonrandomized study.

Background And Objectives: Adverse drug events (ADEs) may occur after discharge from acute care hospitalization because of limited instruction on medications at discharge. The right instructions given to patients may reduce the risk of ADEs. The objective of our study was to assess a program involving comprehensive medication counseling provided by pharmacists at the time of discharge from a tertiary hospital in Riyadh, Saudi Arabia.

C-terminal tensin-like gene functions as an oncogene and promotes cell motility in pancreatic cancer.

Objectives: C-terminal tensin-like gene (CTEN, also known as TNS4) localizes to focal adhesions and is reported to function as an oncogene in colonic, breast, lung, and gastric cancers. Its role in pancreatic cancer is unknown and was thus investigated in this study.

Methods: C-terminal tensinlike gene expression was evaluated by immunohistochemistry in a series of pancreatic cancers.

Cerebral venous sinus thrombosis in Saudi Arabia.

Objective: To analyze the clinical patterns, etiologies, treatment, and outcome of cerebral venous sinus thrombosis (CVST) in 2 major cities of Saudi Arabia, Jeddah and Al-Baha.

Methods: One hundred and eleven patients diagnosed as CVST were identified from the medical records at King Abdulaziz Medical City, Jeddah, and King Fahad Hospital, Al-Baha, Saudi Arabia, from January 1990 through November 2010. We retrospectively analyzed the data, compared it with local and international studies, and reviewed the literature.

Cten is targeted by Kras signalling to regulate cell motility in the colon and pancreas.

CTEN/TNS4 is an oncogene in colorectal cancer (CRC) which enhances cell motility although the mechanism of Cten regulation is unknown. We found an association between high Cten expression and KRAS/BRAF mutation in a series of CRC cell lines (p = 0.03) and hypothesised that Kras may regulate Cten.

Peritoneal dialysis for chronic kidney disease patients: a single-center experience in Saudi Arabia.

To evaluate the peritoneal dialysis (PD) program in our hospital, we retrospectively studied all patients dialyzed with this modality over the last 5 years. A total of 56 patients having end-stage renal disease (ESRD), with mean age ± SD of 49 ± 20 years (range 16-92 years), were dialyzed with PD: 38 (68%) patients with continuous ambulatory PD and 18 (32%) patients with automated PD. Twenty-six (46%) patients were females.

Original Article: Investigation of Bcl-2 and PCNA in Hepatocellular Carcinoma: Relation to Chronic HCV.

Background And Objective: Bcl-2 family members can be functionally divided into anti-apoptotic and proapoptotic groups. The balance between these two groups may determine the fate of tumor cells. In hepatocellular carcinoma (HCC), this balance is often tilted towards the anti-apoptotic members in tumor cells, leading to resistance to cell death and rapid proliferation.

Cten signals through integrin-linked kinase (ILK) and may promote metastasis in colorectal cancer.

CTEN/TNS4 is an oncogene in colorectal cancer (CRC), which can induce cell motility although its mechanistic basis of activity and the clinical implications of Cten expression are unknown. As Cten is in complex with integrins at focal adhesions, we hypothesised that it may interact with integrin-linked kinase (ILK). Through forced expression and knockdown of Cten in HCT116 and SW620 (respectively, showing low and high Cten expression), we showed that Cten could regulate ILK.

Comparison of antibiotic-only and antibiotic-steroid combination treatment in corneal ulcer patients: double-blinded randomized clinical trial.

Objective: To determine the benefit of early addition of corticosteroids to antibiotics in the treatment of corneal ulcers.

Design: Randomized clinical trial.

Participants: Thirty eyes of 30 patients, over the age of 12 years, with bacterial corneal ulcer confirmed by culture.

Safe and effective use of conscious sedation for defibrillation threshold testing during ICD implantation.

Background: Over a period of years general anesthesia has been a standard anesthetic technique for defibrillation threshold (DFT) testing at the time of implant. DFT testing without general anesthesia cover has gained limited acceptance. Use of local anesthesia combined with deep sedation for DFT testing might facilitate and simplify these procedures by reducing the procedural time, staff time, avoiding inefficient service in organizing anesthetic cover; thereby improving patient compliance.

An initiative to minimize amount of contrast media utilizing a novel rotational coronary sinus occlusive venography technique with ordinary cath-lab X-ray machine during CRT implantation.

Background: Rotational angiography is one of the latest angiographic modalities to map the coronary venous tree anatomy. It provides a significant reduction in both contrast agent usage and radiation dose (up to 30%), without compromising the clinical utility of images. Hence, the present study was conducted to describe a new technique to minimize the amount of contrast media used during cardiac resynchronization therapy (CRT) implantation.

Controlling rate and rhythm increases feasibility of CT angiography in atrial fibrillation.

A woman, aged 48 years, with severe rheumatic mitral stenosis and uncontrolled permanent atrial fibrillation (AF) underwent preoperative assessment of coronary arteries. Invasive coronary angiography was not possible because of occluded common iliac artery and bilateral radial spasm. Transesophageal echocardiogram showed a very large mobile left atrial appendage clot, precluding cardioversion.

Insomnia in chronic renal patients on dialysis in Saudi Arabia.

Background: Studies have shown that insomnia is a common sleep disorder among patients with end-stage renal disease (ESRD). This study aimed to assess the prevalence of insomnia in Saudi patients with ESRD who are on maintenance dialysis.

Methods: This was an observational cross-sectional study carried out over a period of five months in two hemodialysis centers in Saudi Arabia.

Transient sinus node dysfunction with acute hepatitis of unknown etiology.

We reported a case of a 72-year-old male, known diabetic on insulin, referred because of complete atrioventricular block. He was found to have acute hepatitis during which he developed transient atrial arrhythmia, and sinus node dysfunction. His cardiac symptoms disappeared completely after hepatitis improvement.