A homozygous mutation in the insulin gene (INS) causing autosomal recessive neonatal diabetes in Saudi families

Purpose@#Insulin gene (INS) mutations are a rare cause of permanent neonatal diabetes and mature-onset diabetes of the young (MODY10). Homozygous mutations have been reported to cause diabetes by decreasing insulin biosynthesis through distinct mechanisms. In this study, we report a homozygous mutation c.-331C>G in the INS gene causing autosomal recessive neonatal diabetes in Saudi families and share our experience with diagnosis and management. @*Methods@#We retrospectively reviewed all cases diagnosed with diabetes during the first week of life. We identified 18 cases, and all underwent genetic testing to identify the cause. Most had mutations in common genes (9 in KCNJ11 and 5 in ABCC8). The inclusion criterion for this study was a mutation in the INS gene. @*Results@#Four patients from 3 Saudi families had mutations in the INS gene. All patients were born with low birth weight and were diagnosed with neonatal diabetes at the age of 2 days. Sanger sequencing analysis identified a homozygous INS pathogenic promoter variant, c.-331C>G. All patients were managed by insulin therapy. Two patients had persistent diabetes and in 2 cases diabetes resolved. @*Conclusion@#This report indicates that a homozygous mutation in the INS gene is a probable and important cause of neonatal diabetes in Saudi Arabia. The c.-331C>G variant in the INS gene identified in our study showed variability both within and between families and different outcomes ranging from early resolution of diabetes after 2 months of life to permanent diabetes.

Use of Aspirin and Statin as primary prevention for cardiovascular diseases

Objective: To ascertain whether recommendations for the use of Statins and Aspirin as primary prevention in diabetic patients are correctly implemented at our institution

Methods: This cross-sectional study was conducted between February 2014 and April 2014 at the General Practice Department of King Abdulaziz University Hospital. Three hundred twelve patients were included in the study. Data were collected from the electronic patient medical records for the characteristics of the patients, existing co-morbidities, and results of laboratory investigations. Descriptive statistics were performed for all variables

Results: Of 312 patients, aspirin was indicated for 17.0% but it was not prescribed. It was both indicated and prescribed in 36.2% of the cases. Statin treatment was indicated in 27.2% of the patients but it was not prescribed, while in 63.1% of cases it was indicated and prescribed

Conclusion: The proportion of patients who achieved treatment targets at our institution is greater than that reported by other studies, albeit treatment targets are not being met in a significant number of cases

Learning styles and satisfaction with educational activities among paediatric physicians at King Abdulaziz Medical City Jeddah

Few studies have evaluated the degree of satisfaction of paediatricians with the academic instructional methods and the association of that satisfaction with their learning styles [LSs]. The purpose of this research was to determine the correlation between paediatricians' LSs and their satisfaction with different instructional strategies. This cross-sectional descriptive study was conducted at the Pediatric Department of King Abdulaziz Medical City [KAMC]-Jeddah, Kingdom of Saudi Arabia [KSA]. The instruments used in the survey were the David Kolb LS inventory and a modified student satisfaction survey based on a similar survey from Mott Community College in Flint, Michigan. A selfadministered questionnaire was administered using LSs and demographic data as the predictor variables. The satisfaction level of the physicians was considered the outcome variable. A total of 75 paediatricians were included in this study [mean age 36 +/- 8.9 years, 52% males]. Overall, no single predominant LS was reported; an approximately equal distribution of LSs was observed among the paediatricians. The satisfaction scores of the paediatricians showed that they were generally satisfied; however, the mean satisfaction score for education was only 68%. No correlation was found between LS types and the degree of satisfaction with instructional methods. No single predominant LS was observed among the paediatricians of KAMC-Jeddah. The respondents showed an average level of satisfaction with the educational strategies. There were no correlations between the different LS types and the paediatricians' degrees of satisfaction with the instructional methods used. The results of this study suggest that the preparation of an educational training program may not require the consideration of LS. Further studies exploring the high level of dissatisfaction with instructional methods in paediatricians are recommended