Foot complications are considered to be a serious consequence of diabetes mellitus, posing a major medical and economical threat. Identifying the extent of this problem and its risk factors will ...enable health providers to set up better prevention programs. Saudi National Diabetes Registry (SNDR), being a large database source, would be the best tool to evaluate this problem.
This is a cross-sectional study of a cohort of 62,681 patients aged ≥ 25 years from SNDR database, selected for studying foot complications associated with diabetes and related risk factors.
The overall prevalence of diabetic foot complications was 3.3% with 95% confidence interval (95% CI) of (3.16%-3.44%), whilst the prevalences of foot ulcer, gangrene, and amputations were 2.05% (1.94%-2.16%), 0.19% (0.16%-0.22%), and 1.06% (0.98%-1.14%), respectively. The prevalence of foot complications increased with age and diabetes duration predominantly amongst the male patients. Diabetic foot is more commonly seen among type 2 patients, although it is more prevalent among type 1 diabetic patients. The Univariate analysis showed Charcot joints, peripheral vascular disease (PVD), neuropathy, diabetes duration ≥ 10 years, insulin use, retinopathy, nephropathy, age ≥ 45 years, cerebral vascular disease (CVD), poor glycemic control, coronary artery disease (CAD), male gender, smoking, and hypertension to be significant risk factors with odds ratio and 95% CI at 42.53 (18.16-99.62), 14.47 (8.99-23.31), 12.06 (10.54-13.80), 7.22 (6.10-8.55), 4.69 (4.28-5.14), 4.45 (4.05-4.89), 2.88 (2.43-3.40), 2.81 (2.31-3.43), 2.24 (1.98-2.45), 2.02 (1.84-2.22), 1.54 (1.29-1.83), and 1.51 (1.38-1.65), respectively.
Risk factors for diabetic foot complications are highly prevalent; they have put these complications at a higher rate and warrant primary and secondary prevention programs to minimize morbidity and mortality in addition to economic impact of the complications. Other measurements, such as decompression of lower extremity nerves, should be considered among diabetic patients.
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.
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. The American Diabetes Association (ADA) criterion was used to identify cases with microalbuminuria, macroalbuminuria and end stage renal disease (ESRD) for prevalence estimation and risk factor assessment.
The overall prevalence of diabetic nephropathy was 10.8%, divided into 1.2% microalbuminuria, 8.1%macroalbuninuria and 1.5% ESRD. Age and diabetes duration as important risk factors have a strong impact on the prevalence of diabetic nephropathy, ranging from 3.7% in patients aged 25-44 years and a duration of >5 years, to 21.8% in patients ≥ 65 years with a diabetes duration of ≥ 15 years. Diabetes duration, retinopathy, neuropathy, hypertension, age >45 years, hyperlipidemia, male gender, smoking, and chronologically, poor glycemic control has a significantly high risk for diabetic nephropathy.
The prevalence of diabetic nephropathy is underestimated as a result of a shortage of screening programs. Risk factors related to diabetic nephropathy in this society are similar to other societies. There is thus an urgent need for screening and prevention programs for diabetic nephropathy among the Saudi population.
The prevalence of obesity and overweight is increasing globally. Frequently coexisting with under-nutrition in developing countries, obesity is a major contributor to chronic disease, and will become ...a serious healthcare burden especially in countries with a larger percentage of youthful population. 35% of the population of Saudi Arabia are under the age of 16, and adult dietary preferences are often established during early childhood years. Our objective was to examine the dietary habits in relation to body-mass-index (BMI) and waist circumference (W_C), together with exercise and sleep patterns in a cohort of male and female Saudi school children, in order to ascertain whether dietary patterns are associated with obesity phenotypes in this population.
5033 boys and 4400 girls aged 10 to 19 years old participated in a designed Food Frequency Questionnaire. BMI and W_C measurements were obtained and correlated with dietary intake.
The overall prevalence of overweight and obesity was 12.2% and 27.0% respectively, with boys having higher obesity rates than girls (P <or= 0.001). W_C and BMI was positively correlated with sugar-sweetened carbonated beverage (SSCB) intake in boys only. The association between male BMI and SSCB consumption was significant in a multivariate regression model (P < 0.0001). SSCB intake was positively associated with poor dietary choices in both males and females. Fast food meal intake, savory snacks, iced desserts and total sugar consumption correlated with SSCB intake in both boys (r = 0.39, 0.13, 0.10 and 0.52 respectively, P < 0.001) and girls (r = 0.45, 0.23, 0.16 and 0.55 respectively, P < 0.001). Older children reported eating significantly less fruit and vegetables than younger children; and less eggs, fish and cereals. Conversely, consumption of SSCB and sugar-sweetened hot beverages were higher in older versus younger children (P < 0.001). BMI and W_C were negatively correlated with hours of night-time sleep and exercise in boys, but only with night time sleep in girls, who also showed the lowest frequency of exercise.
A higher intake of SSCB is associated with poor dietary choices. Male SSCB intake correlates with a higher W_C and BMI. Limiting exposure to SSCB could therefore have a large public health impact.
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with genetic and clinical heterogeneity. The interplay of de novo and inherited rare variants has been suspected in the ...development of ASD. Here, we applied whole exome sequencing (WES) on 19 trios from singleton Saudi families with ASD. We developed an analysis pipeline that allows capturing both de novo and inherited rare variants predicted to be deleterious. A total of 47 unique rare variants were detected in 17 trios including 38 which are newly discovered. The majority were either autosomal recessive or X-linked. Our pipeline uncovered variants in 15 ASD-candidate genes, including 5 (GLT8D1, HTATSF1, OR6C65, ITIH6 and DDX26B) that have not been reported in any human condition. The remaining variants occurred in genes formerly associated with ASD or other neurological disorders. Examples include SUMF1, KDM5B and MXRA5 (Known-ASD genes), PRODH2 and KCTD21 (implicated in schizophrenia), as well as USP9X and SMS (implicated in intellectual disability). Consistent with expectation and previous studies, most of the genes implicated herein are enriched for biological processes pertaining to neuronal function. Our findings underscore the private and heterogeneous nature of the genetic architecture of ASD even in a population with high consanguinity rates.
Genetic studies of the familial forms of Parkinson's disease (PD) have identified a number of causative genes with an established role in its pathogenesis. These genes only explain a fraction of the ...diagnosed cases. The emergence of Next Generation Sequencing (NGS) expanded the scope of rare variants identification in novel PD related genes. In this study we describe whole exome sequencing (WES) genetic findings of 60 PD patients with 125 variants validated in 51 of these cases. We used strict criteria for variant categorization that generated a list of variants in 20 genes. These variants included loss of function and missense changes in 18 genes that were never previously linked to PD (NOTCH4, BCOR, ITM2B, HRH4, CELSR1, SNAP91, FAM174A, BSN, SPG7, MAGI2, HEPHL1, EPRS, PUM1, CLSTN1, PLCB3, CLSTN3, DNAJB9 and NEFH) and 2 genes that were previously associated with PD (EIF4G1 and ATP13A2). These genes either play a critical role in neuronal function and/or have mouse models with disease related phenotypes. We highlight NOTCH4 as an interesting candidate in which we identified a deleterious truncating and a splice variant in 2 patients. Our combined molecular approach provides a comprehensive strategy applicable for complex genetic disorders.
Purpose
To assess diabetic retinopathy prevalence and its risk factors in a society with type 2 diabetes epidemic using the Saudi National Diabetes Registry (SNDR).
Method
This is a cross‐sectional ...study using patient's clinical data found in SNDR data base. A cohort of 50 464 Saudi patients with type 2 diabetes aged ≥25 years were selected to assess for the prevalence and risk factors for diabetic retinopathy.
Results
The overall prevalence of diabetic retinopathy is 19.7%, where 9.1% have non‐proliferative diabetic retinopathy (NPDR), 10.6% have proliferative diabetic retinopathy (PDR) and 5.7% have macular oedema (ME). Duration of diabetes and age are the most significant risk factors for diabetic retinopathy with odds ratio (OR) and 95% confidence interval (95% CI) 8.88 (8.30–9.50) and 5.76 (5.10–6.55), respectively. Nephropathy, neuropathy, insulin use, poor glycemic control, hypertension and male gender significantly increased the risk for diabetic retinopathy. Smoking, hyperlipidemia and obesity significantly reduced the risk for diabetic retinopathy among type 2 Saudi diabetic cohort.
Conclusion
vThe low prevalence of diabetic retinopathy in our registry may be a result of the shortage or absence of well‐structured screening programmes. Therefore, many patients with NPDR might have been missed. A prevention programme is needed to reduce the effect of diabetic retinopathy risk factors in this society.
Worldwide, eHealth is a rapidly growing technology. It provides good quality health services at lower cost and increased availability. Diabetes has reached an epidemic stage in Saudi Arabia and has a ...medical and economic impact at a countrywide level. Data are greatly needed to better understand and plan to prevent and manage this medical problem.
The Saudi National Diabetes Registry (SNDR) is an electronic medical file supported by clinical, investigational, and management data. It functions as a monitoring tool for medical, social, and cultural bases for primary and secondary prevention programs. Economic impact, in the form of direct or indirect cost, is part of the registry's scope. The registry's geographic information system (GIS) produces a variety of maps for diabetes and associated diseases. In addition to availability and distribution of health facilities in the Kingdom, GIS data provide health planners with the necessary information to make informed decisions. The electronic data bank serves as a research tool to help researchers for both prospective and retrospective studies.
A Web-based interactive GIS system was designed to serve as an electronic medical file for diabetic patients retrieving data from medical files by trained registrars. Data was audited and cleaned before it was archived in the electronic filing system. It was then used to produce epidemiologic, economic, and geographic reports. A total of 84,942 patients were registered from 2000 to 2012, growing by 10% annually.
The SNDR reporting system for epidemiology data gives better understanding of the disease pattern, types, and gender characteristics. Part of the reporting system is to assess quality of health care using different parameters, such as HbA1c, that gives an impression of good diabetes control for each institute. Economic reports give accurate cost estimation of different services given to diabetic patients, such as the annual insulin cost per patient for type 1, type 2, and gestational diabetes, which are 1155 SR (US $308), 1406 SR (US $375), and 1002 SR (US $267), respectively. Of this, 72.02% of the total insulin cost is spent on type 2 patients and 55.39% is in the form of premixed insulin. The SNDR can provide an accurate assessment of the services provided for research purposes. For example, only 27.00% of registered patients had an ophthalmic examination and only 71.10% of patients with proliferative retinopathy had laser therapy.
The SNDR is an effective electronic medical file that can provide epidemiologic, economic, and geographic reports that can be used for disease management and health care planning. It is a useful tool for research and disease health care quality monitoring.
The main aim of this study is to determine the prevalence and risk factors of ischemic stroke among diabetic patients registered in the Saudi National Diabetes Registry (SNDR) database. A ...cross-sectional sample of 62,681 diabetic patients aged ≥25 years was used to calculate ischemic stroke prevalence and its risk factors. Univariate and multivariate logistic regression analyses were used to assess the roles of different risk factors. The prevalence of ischemic stroke was 4.42% and was higher in the older age group with longer diabetes duration. Poor glycemic control and the presence of chronic diabetes complications were associated with a high risk of ischemic stroke. History of smoking and type 2 diabetes were more frequent among stroke patients. Obesity significantly decreased the risk for ischemic stroke. Regression analysis for ischemic stroke risk factors proved that age ≥45 years, male gender, hypertension, coronary artery disease (CAD), diabetes duration ≥10 years, insulin use, and hyperlipidemia were significant independent risk factors for ischemic stroke. We conclude that ischemic stroke is prevalent among diabetic individuals, particularly among those with type 2 diabetes. Good glycemic, hypertension, and hyperlipidemia control, in addition to smoking cessation, are the cornerstones to achieve a significant reduction in ischemic stroke risk.
Fifty random genetically unstudied families (limb-girdle muscular dystrophy (LGMD)/myopathy) were screened with a gene panel incorporating 759 OMIM genes associated with neurological disorders. ...Average coverage of the CDS and 10 bp flanking regions of genes was 99 %. All families were referred to the Neurosciences Clinic of King Faisal Specialist Hospital and Research Centre, Saudi Arabia. Patients presented with muscle weakness affecting the pelvic and shoulder girdle. Muscle biopsy in all cases showed dystrophic or myopathic changes. Our main objective was to evaluate a neurological gene panel as a first-line diagnostic test for LGMD/myopathies.
Our panel identified the mutation in 76 % of families (38/50; 11 novel). Thirty-four families had mutations in LGMD-related genes with four others having variants not typically associated with LGMD. The majority of cases had recessive inheritance with homoallelic pathogenic variants (97.4 %, 37/38), as expected considering the high rate of consanguinity in the study population. In one case, we detected a heterozygous mutation in DNAJB responsible for LGMD-1E. Our cohort included seven different subtypes of LGMD2. Mutations of DYSF were the most commonly identified cause of disease followed by that in CAPN3 and FKRP. Non-LGMD myopathies were due to mutations in genes associated with congenital disorder of glycosylation (ALG2), rigid spine muscular dystrophy 1 (SEPN1), inclusion body myopathy2/Nonaka myopathy (GNE), and neuropathy (WNK1). Whole exome sequencing (WES) of patients who remained undiagnosed with the neurological panel did not improve our diagnostic yield.
Our neurological panel achieved a high clinical sensitivity (76 %) and is an effective first-line laboratory test in patients with LGMD and other myopathies. This sensitive, cost-effective, and rapid assay significantly assists clinical practice especially in these phenotypically and genetically heterogeneous disorders. Moreover, the application of the American College of Medical Genetics (ACMG) and Association for Molecular Pathology (AMP) guidelines applied in the classification of variant pathogenecity provides a clear interpretation for physicians on the relevance of such findings.
Family trio next-generation sequencing-based variant analysis was done to identify the genomic reason on unexplained recurrent pregnancy loss (RPL). A family (dead fetus and parents) from Saudi ...Arabia with an earlier history of three unexplained RPLs at the ninth week of pregnancy was included in the study. Whole-genome sequencing (WGS) of a dead fetus and the parents was done to identify the pathogenic variation and confirmed through Sanger sequencing. WGS of dead fetus identifies a novel homozygous exonic variation (NM_017419.3:c.680G>T) in
(acid-sensing ion channel subunit family member 5) gene; the parents are heterozygous. Newly designed ARMS PCR followed by direct sequencing confirms the presence of heterozygous in one subject and absence of homozygous novel mutation among randomly selected healthy Saudis. The second family with heterozygous was confirmed with three unexplained RPLs. Pathogenicity analysis of R227I amino acid substitution in ASIC5 protein through molecular docking and interaction analysis revealed that the mutations are highly pathogenic, decrease the stability of the protein, and prevent binding of amiloride, which is an activator to open the acid-sensing ion channel of
. The identified rare and novel autosomal recessive mutation, c.680G>T:p.R227I (ASIC5
), in two families confirm the
gene association with RPL and can be fatal to the fetus.
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