Gene Expression in Proliferative Diabetic Retinopathy Using RNA-Seq Data: A Computational Study on Saudi Patients

Proliferative diabetic retinopathy is the widespread type of DM which causes chronic as well as progressive alterations at microvascular level, which particularly effects the eye. The main characteristic of this disease is the development of few new blood vessels around the retina of eye as well as at the posterior region of eye segments. For our computational analysis 155 differentially expressed genes calculated through paired t test statistics analysis using the GenePattern platform, of proliferative diabetic retinopathy in Saudi patients were downloaded. Among the 155 genes, 95 were upregulated, and 60 were downregulated. The Annotation Cluster (FAC) tool in the (DAVID) (http://david.abcc.ncifcrf.gov/home.jsp) was used to identify biological processes that are abundant in proliferative diabetic retinopathy (PDR). The functions required for response to mRNA splicing, intracellular protein transport, mRNA processing, microtubule cytoskeleton structure, and atrioventricular canal formation are represented by the GO keywords that are abundant in genes. We used the KAAS web server to identify the biological pathways of these DEGs in addition to DAVID functional analysis and found that the majority of the DEGs were associated with important biological processes, with many being classified in metabolic pathways, Spliceosome, Cell cycle, or being involved in the mRNA surveillance pathway. findings are consistent with those of earlier research. To corroborate the predictions stated in this work, which will demonstrate the role enhanced functional processes, experimental validation will be necessary.

Variants of D9N, G188A, N291S, and 93 T/G Genes in patients with Coronary Artery Diseases

Objective: Our work aimed to study the relationship between LPL variants D9N, G188A, N291S, and 93 T/G genes and CAD in Saudi patients. Materials and Methods: We recruited 253 CAD patients, who underwent diagnostic coronary angiography, and 207 control subjects. Several biochemical and behavioral markers were obtained, and different genotypes of LPL variants, D9N, G188E, N291S, and 93 T/G, were detected using The PCR-RFLP method. Results: The current study found D9N genotypes, AA, AG, and GG in 71.14%, 23.72%, and 5.14% in CAD patients, respectively. the AA, AG, and GG control genotypes were found in 81.64%, 16.43%, and 1.93%, respectively. The OR of the D9N AA versus AG genotype with a 95% CI was determined to be 1.65 (1.04–2.65), (p = 0.035). The OR of the D9N AA versus AG + GG genotype with a 95% CI was 1.80 (1.16–2.81), (p = 0.009). A strong relation of the D9N AA was observed with CAD. For the G188E, N291S, 93T/G variants insignificant were observed in both CAD and control groups. Conclusion: This study revealed the D9N variant has an association with CAD; however, no relation was detected between CAD and G188E, N291S, and 93T/G variants in the Saudi patients.

Alstrom's Syndrome: An Experience of Tertiary Care Center

Alstrom's syndrome (AS) is an autosomal recessively inherited multisystemic disorder that falls under the umbrella of ciliopathy. It is characterized by poor vision, hearing impairment, cardiomyopathy, childhood obesity, diabetes mellitus type 2, dyslipidemia, pulmonary, hepatic, and renal failure besides systemic fibrosis. Biallelic pathogenic variants in ALMS1 gene cause AS. Retrospective study (1990–2017) included 12 Saudi patients with AS based on their phenotype, biochemical markers, and genotype. The study was approved by Fisal Specialist Hospital and Research Centre, Riyadh (RAC number 2131129) on October 2, 2012. This study showed clinical and genetic heterogeneity; six patients showed a founder mutation (IVS18–2A > T in exon 19), whereas six others showed private mutations. AS in Saudi Arabia is underdiagnosed probably because of its variable clinical manifestations. We report 12 Saudi patients with AS to enhance the awareness about this syndrome.

Assessment of Dietary Folate Intake and Pill Burden among Saudi Patients on Maintenance Hemodialysis

The aim of this study was to assess the adequacy of dietary folate intake and perceptions of pill burden among Saudi patients on maintenance hemodialysis (MHD). This was a cross-sectional study of adults (>18 years) on MHD (>3 months) attending the dialysis unit at King Saud University Medical City. Patient demographics, dietary folic acid intake, and perceptions of pill burden were collected. Fifty-four patients met the eligibility criteria, with a mean age of 57 ± 15.5 years. The majority were females (63%), and the most prevalent comorbidities were diabetes (43%) and hypertension (76%). The average number of medications/patients was 11 ± 2.9, and most patients were receiving folate supplementation (68.5%). The average dietary folate intake was 823 ± 530 mcg/day. Pill burden was bothersome, primarily due to taking too many medications (57%) while taking medications at the workplace was the least bothersome burden (17%). The reported high pill burden and adequate dietary folate intake by Saudi patients on MHD indicates that the omission of folate supplementation may be advantageous for this special population.