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Riyadh, Saudi Arabia

Almutairi N.,King Saud Medical Complex | Alkharfy K.M.,King Saud University
Applied Health Economics and Health Policy

Background: The prevalence of diabetes mellitus continues to increase globally. Furthermore, it is projected that healthcare expenditure on this epidemic will mount to US$490 billion in 2030. Information on the economic burden of diabetes care in Saudi Arabia is largely lacking. Objectives: This retrospective observational study evaluated the direct medical cost of type 2 diabetes mellitus (T2DM) in a Saudi population in relation to glycemic control at a governmental institution from a payer's perspective. Methods: Three hundred subjects attending a university hospital were classified into three groups (n = 100 each) based on HbA1c values to <7 %, 7-9 %, and >9 %. The total direct medical costs were calculated for drug therapy, diagnostic procedures, hospitalization, and outpatient visits. The year of valuation for the costings was 2010/2011. Results: The total annual direct medical cost per group was found to be US$1,384.19 for HbA1c <7 %, US$2,036.11 for HbA1c 7-9 %, and US$3,104.86 for HbA1c >9 % (p < 0.001). There was also a statistically positive relationship in the total care cost of diabetic patients and the number of co-morbidities (p < 0.001). A direct association of the cost of medications that have been disbursed for diabetic patients and the medical specialty of the treating physician (r = 0.390; p < 0.0001), and the cost of laboratory analyses (r = 0.351; p < 0.0001), was observed as also between the cost of laboratory diagnosis and days of hospitalization (r = 0.478; p < 0.0001). Multivariate analysis showed that the relationship between HbA1c and total cost is independent of age and gender, while co-morbidities remain as a significant predictor for the total cost. Conclusions: Collectively, the estimated direct annual medical cost of diabetes care in Saudi Arabia would be enormous. The current study offers more insight into the economic burden of diabetes on the country. © 2013 Springer International Publishing Switzerland. Source

El-Mouzan M.I.,King Saud University | Al-Salloum A.A.,King Saud University | Al-Herbish A.S.,King Saud University | Qurachi M.M.,Al yamama Hospital | Al-Omar A.A.,King Saud Medical Complex
Saudi Medical Journal

Objectives: To explore the effect of the educational level of the head of household on the prevalence of malnutrition in Saudi children. Methods: The study was conducted over 2 years in 2004 and 2005 in all regions of the Kingdom of Saudi Arabia (KSA). The design consisted of a stratified multistage probability random sampling of the population of the KSA. The educational level of the heads of the household, and measurements of weight and height of the children were obtained during house visits. Nutritional indicators in the form of weight for age, height for age, and weight for height for children below 5 years of age were determined, and the prevalence of each indicator below -2 standard deviations (SD) was calculated for each level of education. Results: The sample size was 7390 in the weight for age, 7275 height for age, and 7335 for weight for height. The prevalence of underweight (weight for age below -2 SD) increased from 7.4% for the university level to 15.2% in the children of illiterate heads of household. Similar patterns were found for the prevalence of stunting (height for age below -2 SD) and wasting (weight for height below -2 SD). Conclusion: This study demonstrates that the higher the education level of the heads of the household, the lower the prevalence of malnutrition in their children, suggesting that completing at least 9-12 years of education (intermediate and secondary school) is needed for better improvement in the nutritional status of the children. Source

Faden M.,King Saud Medical Complex | Alzahrani F.,King Faisal Specialist Hospital And Research Center | Mendoza-Londono R.,University of Toronto | Dupuis L.,University of Toronto | And 12 more authors.
American Journal of Human Genetics

Skeletal dysplasias are highly variable Mendelian phenotypes. Molecular diagnosis of skeletal dysplasias is complicated by their extreme clinical and genetic heterogeneity. We describe a clinically recognizable autosomal-recessive disorder in four affected siblings from a consanguineous Saudi family, comprising progressive spondyloepimetaphyseal dysplasia, short stature, facial dysmorphism, short fourth metatarsals, and intellectual disability. Combined autozygome/exome analysis identified a homozygous frameshift mutation in RSPRY1 with resulting nonsense-mediated decay. Using a gene-centric "matchmaking" system, we were able to identify a Peruvian simplex case subject whose phenotype is strikingly similar to the original Saudi family and whose exome sequencing had revealed a likely pathogenic homozygous missense variant in the same gene. RSPRY1 encodes a hypothetical RING and SPRY domain-containing protein of unknown physiological function. However, we detect strong RSPRY1 protein localization in murine embryonic osteoblasts and periosteal cells during primary endochondral ossification, consistent with a role in bone development. This study highlights the role of gene-centric matchmaking tools to establish causal links to genes, especially for rare or previously undescribed clinical entities. © 2015 The American Society of Human Genetics. All rights reserved. Source

Faden M.,King Saud Medical Complex | Al-Zahrani F.,King Faisal Specialist Hospital And Research Center | Arafah D.,Maternity and Childrens Hospital | Alkuraya F.S.,King Faisal Specialist Hospital And Research Center | And 2 more authors.
American Journal of Medical Genetics, Part A

Desbuquois dysplasia is an autosomal recessive dysplasia characterized by severe growth restriction and distinct hand and proximal femur appearance in addition to cognitive impairment. The critical interval for this disease has been mapped to 17q25.3 using homozygosity mapping. We have identified a newborn with classical features of the disease whose parents are first cousins. Assuming genetic homogeneity of this disorder, we were able to narrow the critical interval to a region that only contained 10 annotated genes by combining the results of our homozygosity mapping with those of others. Serial sequencing of the genes contained within the interval revealed a 5 bp duplication in Calcium-Activated Nucleotidase 1 gene (CANT1), consistent with the very recent report by Huber et al. [Huber et al. (2009); Am J Hum Genet 85:706-710]. This report cements the role of CANT1 in the causation of this dysplasia and demonstrates the high value of even single cases in the setting of genetically homogeneous disorders when homozygosity mapping is used. © 2010 Wiley-Liss, Inc. Source

AlHabib K.F.,King Saud University | Elasfar A.A.,Prince Salman Heart Center | Elasfar A.A.,Tanta University | AlFaleh H.,King Saud University | And 19 more authors.
European Journal of Heart Failure

Aims The HEart function Assessment Registry Trial in Saudi Arabia (HEARTS) is a national multicentre project, studying clinical features, management, short- and long-term outcomes, and mortality predictors in patients admitted with acute decompensated heart failure (ADHF). Methods and results Our prospective registry enrolled 2610 ADHF patients admitted to 18 hospitals in Saudi Arabia between October 2009 and December 2010, and followed mortality rates until January 2013. The patients included 66% men and 85.5% Saudis, with a median age (interquartile range) of 61.4 (15) years; 64% had acute on chronic heart failure (HF), 64.1% diabetes mellitus, 70.6% hypertension, and 55.7% CAD. Exacerbating factors for hospital admission included acute coronary syndromes (37.8%), infections (20.6%), non-compliance with low-salt diet (25.2%), and non-compliance with HF medications (20%). An LVEF <40% was found in 73%. In-hospital use of evidence-based medications was high. All-cause cumulative mortality rates at 30 days, 6 months, 1 year, 2 years, and 3 years were 8.3, 13.7, 19.5, 23.5, and 24.3%, respectively. Important independent predictors of mortality were history of stroke, acute on chronic HF, systolic blood pressure <90 mmHg upon presentation, estimated glomerular filtration rate <60 mL/min, and haemoglobin <10 g/dL. Conclusion Patients with ADHF in Saudi Arabia presented at a younger age and had higher rates of CAD risk factors compared with those in developed countries. Most patients had reduced LV systolic function, mostly due to ischaemic aetiology, and had poor long-term prognosis. These findings indicate a need for nationwide primary prevention and HF disease management programmes. © 2014 The Authors. Source

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