LEOPARD Syndrome with a Sporadic PTPN11 Mutation in a Saudi Patient.

LEOPARD syndrome (LS) is a rare autosomal dominant inherited or sporadic genetic disorder caused commonly by missense mutations in the protein-tyrosine phosphatase-nonreceptor type 11 (PTPN11) gene. Due to its rarity and a high chance of misdiagnosis, the epidemiological profile of LS is poorly established. To the best of our knowledge, this is the second report with a documented PTPN11 gene mutation in Saudi Arabia.

The Impact of Diabetes Distress on the Glycemic Control Among Adolescents and Youth With Type 1 Diabetes in Two Tertiary Centers, Jeddah, Saudi Arabia.

Introduction Adolescents with type 1 diabetes (T1D) experience multiple symptoms of diabetes distress including fear of acute complications such as severe hypoglycemia which may lead to permanent brain damage or death. They also experience fear of acute hyperglycemia that can lead to diabetic ketoacidosis as well as chronic complication including diabetic nephropathy and retinopathy. No previous research was conducted in Saudi Arabia to assess diabetes distress among adolescents and youth with T1D. This study aimed to assess diabetes distress in adolescents and youth with T1D and its relation to clinical characteristics, glycemic control and diabetes co-morbidities. Methodology A cross-sectional study was conducted on 158 patients at King Abdulaziz University Hospital and Dr. Erfan and Bagedo General Hospital, Jeddah, Saudi Arabia. Data about participants' characters, episodes of DKA, last HbA1c level, diabetes co-morbidities were collected. Diabetes distress (DD) was assessed by the Problem Areas in Diabetes (PAID) and Diabetes Distress Scale (DDS) scores. Results The prevalence of diabetes distress among our population of adolescents with T1D was 24.1%. The mean scores of PAID and DDS were 43.56 ± 13.84 and 2.22 ± 1.05, respectively. Patients with suboptimal HbA1c had significantly higher mean PAID and DDS scores. There is also a significant positive correlation between HbA1c level and number of ketoacidosis episodes. A highly significant positive correlation was found between PAID and DDS scores. Conclusion This study found that participants with uncontrolled HbA1c had significantly higher mean PAID and DDS scores with a significant positive correlation between the last HbA1c measured level and number of ketoacidosis attacks and PAID and DDS scores. Future studies on larger samples are needed to implement interventions to minimize the burden of diabetes distress among adolescents with T1D.