Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps.

Objective: To describe clinical, laboratory, and genetic characteristics of three unrelated cases from Chile, Portugal, and Saudi Arabia with severe insulin resistance, SOFT syndrome, and biallelic pathogenic POC1A variants.

Design: Observational study.

Methods: Probands' phenotypes, including short stature, dysmorphism, and insulin resistance, were compared with previous reports.

Ischemic and Non-ischemic Stroke in Young Adults - A Look at Risk Factors and Outcome in a Developing Country.

Objective Stroke among young adults is the leading cause of disability worldwide. Efforts are being taken to control stroke in the general population, but in parallel, there is an increasing trend of stroke among the young population. These patients are often affected by physical disability, cognitive impairment, and loss of productivity, all of which have personal, social, and economic implications.

Primary Hypertriglyceridemia: A Look Back on the Clinical Classification and Genetics of the Disease.

Introduction: Hypertriglyceridemia (HTG) is one of the most common metabolic disorders leading to pancreatitis and cardiovascular disease. HTG develops mostly due to impaired metabolism of triglyceride-rich lipoproteins. Although monogenic types of HTG exist, most reported cases are polygenic in nature.

Design of Arab Diabetes Gene-Centric Array (ADGCA) in population with an epidemic of Type 2 Diabetes: A population specific SNP evaluation.

In the case of diabetes and other complex diseases, the challenge has always been to find genetic markers that explain the excess risk associated with development of the disease. In the last 12 years, advances in genotyping technology provided substantial development in the discovery of loci contributing to Type 2 diabetes (T2D) susceptibility. Therefore, the aim of this study is to custom design, for the first time in Arab world, an "Arab Diabetes Gene Centric Array" (ADGCA) that assays 643, 745 SNP markers including 50,617 diabetes associated SNPs.

The Saudi Diabetic Kidney Disease study (Saudi-DKD): clinical characteristics and biochemical parameters.

Background: Saudi Arabia is facing an epidemic of type 2 diabetes that is complicated by a high rate of chronic complications such as kidney disease, which have a major impact on the healthcare system and economy. The Saudi diabetic kidney disease (SAUDI-DKD) study was launched to understand the implications of chronic diabetic kidney disease .

Objectives: Examine the hematological, biochemical and metabolic parameters of the selected cohorts to look for biomarkers of diabetic nephropathy.

Assessment of the diagnostic value of different biomarkers in relation to various stages of diabetic nephropathy in type 2 diabetic patients.

Albuminuria is widely used to indicate early phases of diabetic nephropathy although it is limited by the fact that structural damage might precede albumin excretion. This necessitates identifying better biomarkers that diagnose or predict diabetic nephropathy. This is a cross-sectional hospital based study recruiting type 2 diabetic patients cohort aged 35-75 years with diabetes duration of ≥10 years.

The bacterial contamination rate of glucose meter test strips in the hospital setting.

Objectives: To assess the rate of bacterial contamination of the multi-use vial and single-use packed glucose meter strips, and to identify the type and frequency of various bacterial contamination in different hospital wards.

Methods: This prospective observational study was conducted by a team from the Strategic Center for Diabetes Research in 7 general hospitals in the Central region of Saudi Arabia during the period from August to September 2014 to assess the bacterial contamination rate of the unused strips. A total of 10,447 strips were cultured using proper agar media and incubated both aerobically and anaerobically.

All-cause mortality and its risk factors among type 1 and type 2 diabetes mellitus in a country facing diabetes epidemic.

Aim: Diabetes mellitus is associated with an increased risk of premature death mainly secondary to macrovascular and microvascular complications. Mortality data from the Eastern Mediterranean region known for its high diabetes prevalence are lacking. We aimed to assess all-cause mortality and its predictors using large cohort from the Saudi National Diabetes Registry (SNDR).

The Impact of Evolutionary Driving Forces on Human Complex Diseases: A Population Genetics Approach.

Investigating the molecular evolution of human genome has paved the way to understand genetic adaptation of humans to the environmental changes and corresponding complex diseases. In this review, we discussed the historical origin of genetic diversity among human populations, the evolutionary driving forces that can affect genetic diversity among populations, and the effects of human movement into new environments and gene flow on population genetic diversity. Furthermore, we presented the role of natural selection on genetic diversity and complex diseases.

A null mutation in TNIK defines a novel locus for intellectual disability.

Intellectual disability (ID) is one of the most common disabilities and, although many genes have been implicated in its etiology, the genetic heterogeneity of ID continues to expand. The purpose of the study was to describe a novel autosomal recessive non-syndromic ID locus. Autozygome and linkage analysis, and exome sequencing followed by RNA and protein analysis of the candidate disease gene were performed.

Meta-analysis of diabetic nephropathy associated genetic variants in inflammation and angiogenesis involved in different biochemical pathways.

Background: Diabetes mellitus is the most common chronic endocrine disorder, affecting an estimated population of 382 million people worldwide. It is associated with microvascular and macrovascular complications, including diabetic nephropathy (DN); primary cause of end-stage renal disease. Different inflammatory and angiogenic molecules in various pathways are important modulators in the pathogenesis and progression of diabetic nephropathy.

Diabetic nephropathy and its risk factors in a society with a type 2 diabetes epidemic: a Saudi National Diabetes Registry-based study.

Aims: The prevalence of diabetic nephropathy and its risk factors have not been studied in a society known to have diabetes epidemic like Saudi Arabia. Using a large data base registry will provide a better understanding and accurate assessment of this chronic complication and its related risk factors.

Methodology: A total of 54,670 patients with type 2 diabetes aged ≥ 25 years were selected from the Saudi National Diabetes Registry (SNDR) and analyzed for the presence of diabetic nephropathy.

ACE I/D and MTHFR C677T polymorphisms are significantly associated with type 2 diabetes in Arab ethnicity: a meta-analysis.

In this meta-analysis study, SNPs were investigated for their association with type 2 diabetes (T2D) in both Arab and Caucasian ethnicities. A total of 55 SNPs were analyzed, of which 11 fulfilled the selection criteria, and were used for analysis. It was found that TCF7L2 rs7903146 was significantly associated with a pooled OR of 1.