Background: The prevalence of vitamin D deficiency (VDD) is predicted to be high in patients with type 2 diabetes mellitus (T2DM), but the exact figure is not known in Jazan, Saudi Arabia. Emerging data suggests that VDD plays a role in glycemic control. The aim of this study was to measure the prevalence of VDD among T2DM patients and to investigate its association with patients’ characteristics and glycemic control in Jazan. Methods: This is an analytical cross-sectional study which recruited 309 patients with T2DM randomly from primary health care centers in Jazan. Logistic regression analysis was conducted to determine the VDD predictors and to examine the association of VDD and glycemic control. Results: The VDD prevalence was found to be 60.8% in patients with T2DM. Age, gender, diabetic retinopathy (DR), dyslipidemia, glycemic control, and obesity were significantly associated with VDD, and all except obesity were independent predictors of VDD. There was a significant negative correlation between 25-hydroxyvitamin D and HbA1c. VDD was a significant independent predictor of poor glycemic control after adjustment for hypertension, DR, diabetic neuropathy, type of diabetes medication, diabetes duration, and education level. Conclusion: In this Saudi Arabian population, VDD is highly prevalent in people with T2DM and is associated with poor glycemic control. Health education targeting patients with T2DM and national strategies regarding vitamin D fortification are needed to prevent VDD in Saudi Arabia. Earlier VDD diagnosis by health care providers may help to improve the outcome for patients with T2DM. Establishing the causal association between VDD and glycemic control and clarifying the biological role of vitamin D in T2DM are important aims for future studies.

This study assessed the proportion of ABO blood groups and clinical characteristics among Saudi patients with coronavirus disease 2019 (COVID-19) in Jazan, Saudi Arabia. This retrospective cohort study included 404 Saudi adults with COVID-19, confirmed by the real-time reverse transcription-polymerase chain reaction. The participants were selected randomly between July 1, 2020, and July 31, 2020, from the Health Electronic Surveillance Network system, which contains the primary data on COVID-19 infections in Jazan. Blood type O (62.4%) represented the highest proportion in COVID-19 Saudi patients followed by the other blood groups which distributed as follows: blood type A (25.5%), blood type B (10.1%), and blood type AB (2%). Men, and people aged 18–44 years, represented the higher percentage than women and those of a younger age. The majority of the patients with COVID-19 had clinical symptoms (88.4%), and the remainder (11.6%) were asymptomatic. Ninety four percent of the patients had mild COVID-19 symptoms and self-isolated at home. Only 6.4% of the cases were severe and admitted to hospital. There was no significant association between a specific ABO blood group and COVID-19 clinical symptoms (P = .950), incubation period (P = .780), disease duration (P = .430), and disease severity (P = .340). Old age and diabetes were the significant predictors of COVID-19 severity and hospital admission (P = .010). Blood group O represented the highest proportion of COVID-19 Saudi patients as it is the most common blood group in Saudi individuals in Jazan. However, no specific blood group was associated with COVID-19 severity and hospital admission. Old age and diabetes mellitus were shown to be significant predictors of severe COVID-19 and hospital admission.

Familial partial lipodystrophies (FPLDs) are very rare inherited disorders characterized by partial loss of adipose tissue from the upper and lower extremities. At least seven subtypes of FPLD have been identified and are mostly dominantly inherited. FPLD type 3 is caused by mutations in the PPARγ gene, which encodes for the protein peroxisome proliferator-activated receptor gamma (PPARγ). We identified a Saudi female with PFLD3 presented with partial lipoatrophy, uncontrolled diabetes, severe hypertriglyceridemia, and recurrent pancreatitis. The clinical and biochemical findings in this proband were described before and after treatment with Pioglitazone in addition to the conventional treatment. DNA extraction and whole exome sequencing (WES) were performed to detect the variant. The mutant gene was subjected to Sanger analysis to confirm the results. We applied five specific computational prediction tools to assess the pathogenicity of variation, namely the MT, DANN, CADD, BayesDel, and fitCons tools. We assessed protein modeling and stability with the AlphaFold-generated structures for both wild-type and mutant proteins. Finally, we conducted molecular docking using the AutoDock Vina virtual docking. Upon whole exome sequencing, a c.1024C>T p.(Gln342Ter) missense mutation was detected in the PPARγ gene associated with FPLD3. This variant is a novel mutation that has not been described in all genome databases. Sanger analysis confirmed the heterogenicity and pathogenicity of this variant. All five computational prediction tools indicate that this variant is considered highly pathogenic. Our patient showed a dramatic response to Pioglitazone, a synthetic PPARγ agonist. From structural modeling, we found that the enhanced binding affinity of the mutant PPARγ protein to Pioglitazone likely improves the activation of PPARγ, enhancing its transcriptional activity and resulting in better clinical outcomes. These findings extend the spectrum of PPARγ mutations responsible for FPLD3 and highlight the potential for personalized treatment strategies based on genetic mutations.