Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy.

SLC25A42 gene encodes an inner mitochondrial membrane protein that imports Coenzyme A into the mitochondrial matrix. A mutation in this gene was recently reported in a subject born to consanguineous parents who presented with mitochondrial myopathy with muscle weakness and lactic acidosis. In this report, we present 12 additional individuals with the same founder mutation who presented with variable manifestations ranging from asymptomatic lactic acidosis to a severe phenotype characterized by developmental regression and epilepsy.

Blocking of cytokines signalling attenuates evoked and spontaneous neuropathic pain behaviours in the paclitaxel rat model of chemotherapy-induced neuropathy.

Background: Chemotherapy-induced peripheral neuropathic pain (CIPNP) is a serious dose-limiting neurotoxic effect of cancer drug treatment. The underlying mechanism(s) of this debilitating condition, which lacks effective drug treatment, is incompletely understood. However, neural-immune interactions, involving increased expression and release of cytokines, are believed to be involved.

Invasive and noninvasive hemodynamic assessment in adults with Fontan palliation.

Background/objectives: Although echocardiographic-Doppler cardiac index (CI) assessment is widely used to guide heart failure management in patients with biventricular circulation, this application has not been studied in the Fontan population. The objective of this study was to: (1) determine the correlation between Doppler and cardiac catheterization CI calculation; (2) determine the association between Doppler CI and the occurrence of Fontan failure.

Methods: Retrospective review of adult Fontan patients followed at Mayo Clinic Adult Congenital Heart Disease program, 1994-2015.

Role of Doppler echocardiography for cardiac output assessment in Fontan patients.

Background: To determine (1) correlation between Doppler stroke volume index (SVI) and cardiac magnetic resonance imaging (CMRI) SVI and (2) association between Doppler SVI and Fontan-associated diseases (FAD) and Fontan failure.

Methods: Review of Fontan patients who underwent same-day CMRI and transthoracic echocardiography (TTE), 2005 to 2015. We defined FAD as cardiac thrombus, protein-losing enteropathy, arrhythmia, and hospitalization for heart failure.

Association of IL-13 rs20541 and rs1295686 variants with symptomatic asthma in a Saudi Arabian population.

Objective: Interleukin 13 (IL-13) plays a critical pro-inflammatory role in asthma. Several single nucleotide polymorphisms (SNPs) are associated with asthma susceptibility in specific populations; however, further replicative studies in other ethnic groups are mandatory.

Methods: The association between IL-13 SNPs rs762534, rs20541, rs1295686, and rs1800925 (risk alleles A, A, T, and A, respectively) and asthma predisposition in a Saudi Arabian cohort was examined via a case-control cross-sectional study.

The Risks of Renal Angiomyolipoma: Reviewing the Evidence.

Renal angiomyolipoma (RAML), though a rare benign tumor, may impose a significant morbidity or even mortality due to its unique characteristics and the complications subsequent to its treatment. The classic tumor variant is composed of smooth muscular, vascular, and fatty components. The most straightforward diagnosis is when the fat component is abundant and gives a characteristic appearance on different imaging studies.

Illumination-direction multiplexing Fourier ptychographic microscopy using hemispherical digital condensers.

Simulations were conducted to explore a broader collection of possible illumination patterns realizable using a white-light-emitting hemispherical digital condenser. Several simple, but practical, illumination patterns were selected and used in experiments where a sample was illuminated simultaneously from different directions. The illumination-direction multiplexing (IDM) Fourier ptychographic microscopy (FPM) method was successfully used for imaging and phase recovery.

Prevalence and Predictors of Gastroesophageal Reflux Disease After Laparoscopic Sleeve Gastrectomy.

Background And Aims: Laparoscopic sleeve gastrectomy (LSG) might be associated with a new onset or worsening of gastroesophageal reflux disease (GERD). We aim to evaluate the prevalence of post-LSG GERD symptoms and its predictors.

Methods: We included patients who underwent primary LSG at a university hospital from 2009 to 2015.

Neuro-protective effect of rutin against Cisplatin-induced neurotoxic rat model.

Background: Cisplatin is widely used chemotherapeutic agent for cancer treatment with limited uses due to its neurotoxic side effect. The aim of this study was to determine the potential preventive effects of rutin on the brain of cisplatin- neurotoxic rat model.

Methods: Forty rats were divided into four groups.

Tumor Heterogeneity Predicts Metastatic Potential in Colorectal Cancer.

Tumors continuously evolve to maintain growth; secondary mutations facilitate this process, resulting in high tumor heterogeneity. In this study, we compared mutations in paired primary and metastatic colorectal cancer tumor samples to determine whether tumor heterogeneity can predict tumor metastasis. Somatic variations in 46 pairs of matched primary-liver metastatic tumors and 42 primary tumors without metastasis were analyzed by whole-exome sequencing.

Temozolomide therapy for resistant prolactin-secreting pituitary adenomas and carcinomas: a systematic review.

Pituitary tumors represent 10-15% of all intracranial tumors; of these, prolactinomas account for 40-50% of cases. Prolactinomas usually respond well to dopamine agonists (DA) as first-line therapy. However, treatment resistance remains a concern.

Active Surveillance for Small Renal Masses in Young Patients.

We certainly agree with active surveillance for small renal masses 9SRMs). However, it must be in appropriate patients, the elderly and the infirm, in whom the comorbidity risks outweigh the oncologic risks. Evidence to support active surveillance for SRMs in the young is lacking.

Protective effect of rutin supplementation against cisplatin-induced Nephrotoxicity in rats.

Background: Cisplatin (CP) is commonly used in the treatment of different types of cancer but nephrotoxicity has been a major limiting factor. Therefore, the present study aimed to study the possible protective effect of rutin against nephrotoxicity induced by cisplatin in rats.

Methods: Forty male Wistar albino rats were randomly divided into 4 groups.

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

In this study, we report the experience of the only reference clinical next-generation sequencing lab in Saudi Arabia with the first 1000 families who span a wide-range of suspected Mendelian phenotypes. A total of 1019 tests were performed in the period of March 2016-December 2016 comprising 972 solo (index only), 14 duo (parents or affected siblings only), and 33 trio (index and parents). Multigene panels accounted for 672 tests, while whole exome sequencing (WES) represented the remaining 347 tests.

To what extent are Arab pilgrims to Makkah aware of the middle east respiratory syndrome coronavirus and the precautions against it?

Background: Approximately, 80% of the many cases of the Middle East respiratory syndrome coronavirus (MERS-CoV) confirmed worldwide were diagnosed in the Kingdom of Saudi Arabia (KSA). The risk of the disease spreading internationally is especially worrying given the role of KSA as the home of the most important Islamic pilgrimage sites. This means the need to assess Arab pilgrims' awareness of MERS-CoV is of paramount importance.

Validity, Usefulness and Cost of RET System for Diabetic Retinopathy Screening.

Purpose: We studied the validity, usefulness, and relative cost to detect diabetic retinopathy (DR) and sight-threatening DR (STDR) by using a hand-held electrophysiologic tool compared to digital fundus photography.

Method: Patients with diabetes attending the screening unit of King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia were evaluated by "RET", Amsler grid, and digital dilated fundus photography. Fundus images were evaluated by a retina specialist to determine grade of DR.

Sequence analysis of haemagglutinin and neuraminidase of H1N1 strain from a patient coinfected with Mycobacterium tuberculosis.

The 2009 H1N1 pandemic (H1N1pdm09) was associated with a considerable influenza-related morbidity and mortality. Among the complications, Mycobacterial tuberculosis was recorded as a coinfection with influenza in rare cases. The full-length sequences of the viral haemagglutinin and neuraminidase of H1N1pdm09 influenza A virus were analyzed from a recently infected patient.

Use of Herbal Medicines in the Treatment of Obesity in Taif, Saudi Arabia.

Background: The prevalence of obesity is increasing worldwide. Herbal medicines are one of the most common alternative therapies for weight loss. The aim of this study was to determine the usage rate of herbal medicines in the city of Taif, Saudi Arabia, and which plants were most commonly used to treat obesity.

Childhood and adolescent obesity: Primary Health Care Physicians' perspectives from Riyadh, Saudi Arabia.

Background & Objectives: Primary health care (PHC) physicians are foremost to confront childhood and adolescent obesity. Our objective was to evaluate PHC Physicians perspectives for managing overweight/obesity in children and adolescents.

Methods: PHC services from eight public hospitals in Riyadh participated.

The effect of extracellular ATP on rat uterine contraction from different gestational stages and its possible mechanisms of action.

Background: The mechanisms underlying the onset of labor are not fully understood. Extracellular adenosine 5'-triphosphate (ATP) is known to cause uterine contractions in different species but the exact underlying mechanisms are poorly investigated to date. The aims of this study were to investigate the effect of extracellular ATP on spontaneous uterine contractions from different gestational stages and to elucidate its possible underlying mechanisms.

A mobile diabetes management and educational system for type-2 diabetics in Saudi Arabia (SAED).

Background: Diabetes is a chronic disease, with high prevalence across many nations, which is characterized by elevated level of blood glucose and risk of acute and chronic complication. The Kingdom of Saudi Arabia (KSA) has one of the highest levels of diabetes prevalence globally. It is well-known that the treatment of diabetes is complex process and requires both lifestyle change and clear pharmacologic treatment plan.