Metabolic control and incidence of hypoglycaemia, hospitalisation and complications among Saudi patients with type 2 diabetes initiating second-line therapy: an analysis of the Saudi Arabia data from the DISCOVER Observational Study programme.

Objectives: The aim of the global DISCOVERing Treatment Reality of Type 2 Diabetes in Real World Settings (DISCOVER) Study was to provide a comprehensive real world assessment of the treatment pattern changes for patients with type 2 diabetes. The aim of this analysis was to assess the metabolic control and the annual incidence of hypoglycaemia, hospitalisation and complications among Saudi patients with type 2 diabetes initiating second-line therapy.

Design: This study is part of the observational, longitudinal, prospective multinational DISCOVER Study.

Longitudinal assessment of the quality of life and patterns of antidiabetic medication use in patients with type 2 diabetes, Saudi Arabia perspective, DISCOVER study.

Objectives: Patients with type 2 diabetes nowadays have a wide range of new antidiabetic medications with better efficacy and safety. Physicians' attitude toward selecting antidiabetic medications to reach targeted glycemic control and better quality of life (QOL) has not been studied prospectively. The global DISCOVER study aims to comprehensively provide a real-world assessment of the treatment pattern changes for patients with type 2 diabetes, in addition to QOL assessment.

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.

Association of urinary non-albumin protein with the different urinary marker for glomerular and tubular damage in patients with type 2 diabetes.

Background/aim: In recent years, the diagnostic utility of urinary protein levels has been demonstrated for the early detection and progression of kidney disease. This study aimed to evaluate the associations of the non-albumin protein (NAP) with different urinary marker for tubular and glomerular damage in patients with type 2 diabetes (T2D).

Methods: In this observational cross-sectional study, 424 patients with T2D duration > 10 years were classified into two groups according to estimated glomerular filtration rate (eGFR).

Celiac autoantibody positivity in relation to clinical characteristics in children with type 1 diabetes.

Background: Type 1 diabetes is an autoimmune disorder with a high risk of celiac disease (CD).

Aim: This study aimed to determine the celiac autoantibody status and the clinical characteristics among children with type 1 diabetes and autoantibody positivity for CD compared to those without serological evidence of CD.

Materials And Methods: In this cross-sectional study, 240 children with type 1 diabetes underwent serological screening CD.

Physicians' choices in the first- and second-line management of type 2 diabetes in the Kingdom of Saudi Arabia.

Objectives: The DISCOVER study is a global, prospective, three- year- observational (non-interventional) study that was conducted in 37 countries throughout the world including Saudi Arabia and aimed to assess variations in treatment patterns and therapeutic outcomes in type 2 diabetic patients. The current manuscript is reporting data of DISCOVER study across different health sectors of various provinces in the Kingdom of Saudi Arabia.

Methods: In this study, 519 Saudi type 2 diabetics, non-insulin users, aged 18 years or older, initiating second line therapy, were selected from nine health institutes, in four out of five provinces in Saudi Arabia.

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.

ASSESSMENT OF KNOWLEDGE, ATTITUDE AND PRACTICE TOWARDS CONSANGUINEOUS MARRIAGES AMONG A COHORT OF MULTIETHNIC HEALTH CARE PROVIDERS IN SAUDI ARABIA.

This study aimed to assess knowledge, attitude and practice related to consanguinity among multiethnic health care providers in the Kingdom of Saudi Arabia. Using a cross-sectional study design, a validated, self-administered close-ended questionnaire was randomly distributed to health care providers in different health institutions in the country between 1st August 2012 and 31st July 2013. A total of 1235 health care providers completed the study questionnaire.

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.

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.

Cornelia de Lange syndrome (CdLS) is a genetically heterogeneous disorder that presents with extensive phenotypic variability, including facial dysmorphism, developmental delay/intellectual disability (DD/ID), abnormal extremities, and hirsutism. About 65% of patients harbor mutations in genes that encode subunits or regulators of the cohesin complex, including NIPBL, SMC1A, SMC3, RAD21, and HDAC8. Wiedemann-Steiner syndrome (WDSTS), which shares CdLS phenotypic features, is caused by mutations in lysine-specific methyltransferase 2A (KMT2A).

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.

Risk Factors for Thyroid Dysfunction among Type 2 Diabetic Patients in a Highly Diabetes Mellitus Prevalent Society.

Diabetes and thyroid dysfunction found to exist simultaneously. In this regard, the present study looked into the prevalence of different forms of thyroid dysfunction and their risk factors among Type 2 diabetic Saudi patients. Methodology.

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.

Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report.

Approximately 1.1 billion people currently live in countries where consanguineous marriages are customary, and among them one in every three marriages is between cousins. Opinions diverge between those warning of the possible health risks to offspring and others who highlight the social benefits of consanguineous marriages.