Patients' Perception of the Use of the EasyPod™ Growth Hormone Injector Device and Impact on Injection Adherence: A Multi-Center Regional Study.

Objective: This study aimed to assess patient perceptions of the use of the EasyPod™ growth hormone delivery device and its association with compliance. Methods: This cross-sectional, multicenter study was conducted in six centers from three countries (United Arab Emirates, Oman, and Saudi Arabia,) between March 2020 and June 2020. Children and adolescents aged 3-18 years, diagnosed with growth disorders and receiving rhGH through the EasyPod™ device were enrolled. Patients and caregivers were given a pre-set questionnaire that evaluated patient satisfaction, preference for technical and personalized features, and device drawbacks. The results were analyzed using independent measures of analysis of variance to evaluate the association of higher satisfaction with device features and better compliance. Results: A total of 186 patients were enrolled in the study. Of these, 45.7% had GH deficiency. The mean age (±SD) of patients was 11.8 (±2.76) years; 117 (62.90%) were males. Average compliance was 87%. One hundred patients (53.76%) had injection compliance of ≥90%. Amongst these patients, 74%, 68%, and 77% top-scored (5/5) the technical features of hidden needle, skin sensor, and pre-set dosing, respectively, compared to top scores by 39%, 34%, and 51% patients in the <90% compliance group (p-value <0.05). Similarly, a statistically significant difference was observed between the groups (p-value <0.05) in the perception of the usefulness of the tracking features such as display of history of injected doses (78% vs. 47.7%), a reminder for medicine remaining (46% vs. 23.3%) and battery power indicator (48% vs. 20.9%). Personal screen messages were associated with higher compliance while the requirement to keep the device in the fridge was reported as the most inconvenient feature by 56% of patients in the higher compliance group as against 39.5% in the lower compliance group (p-value <0.05). There was no statistically significant difference in the intensity of pain reported in the two compliance groups. Conclusion: Our study showed that there is a statistically significant association between better perception of device features and higher compliance.

Use of ambulatory glucose monitoring and analysis of ambulatory glucose profile in clinical practice for diabetes management; a position statement of the Arab Society of Paediatric Endocrinology and diabetes.

BACKGROUND AND AIM: Diabetes mellitus imposes a significant burden around the world generally and in the Middle East and North Africa specifically. Glucose monitoring is a cornerstone of diabetes management. METHODS: Glycated haemoglobin has always been the main metric for assessing glycaemic control, but its use is linked with multiple pitfalls. As an alternative, continuous glucose monitoring is becoming a standard of care in many countries. Intermittent scanning glucose monitoring (isCGM) has acquired a worldwide popularity and has been proven to improve glycaemic control, hypoglycaemia detection and prevention, and quality of life. RESULTS: The most recent International Society of Paediatric and Adolescent Diabetes practice. guidelines recommended its use in young people with diabetes observing Ramadan to ensure safe fasting. At a meeting in Abu Dhabi in November 2019, the Arab Society for Paediatric. Endocrinology and Diabetes brought together a number of regional diabetes experts, patient. representatives and international expert advisors to review the evidence for isCGM and propose. guidelines for its use in the Middle East and North Africa region. CONCLUSION: In this paper, the authors strongly recommend the use of isCGM for patients in MENA and present general recommendations and compressive specific guidance for physicians and patients, which they believe will also have wider resonance.

A novel missense heterozygous mutation in MAP3K1 gene causes 46, XY disorder of sex development: case report and literature review.

BACKGROUND: Disorders of sex development (DSD) can result from congenital defect in sex determining pathway. Mitogen-activated protein kinase kinase kinase 1 (MAP3K1) is one of the commonest genes that has been identified to cause 46, XY DSD. It can present as complete or partial gonadal dysgenesis even within the same kindred. Few mutations in this gene have previously been identified in a high proportion of individuals with 46, XY gonadal dysgenesis. METHODS AND RESULTS: We report three siblings with same novel variant in MAP3K1 gene presenting with variable degrees of partial gonadal dysgenesis. Clinical and genetic assessments were performed for the three siblings, while endocrine evaluation was done for two of them. The identified mutation (p.Thr657Arg) was previously classified as a pathogenic variant, although apparently there are no reported humans with this mutation. CONCLUSION: This report adds to the genotype-phenotype correlation, highlighting the clinical importance of considering MAP3K1 gene defects as part of the differential diagnosis for complete or partial gonadal dysgenesis especially with multiple affected family members.

Comparison of continuous glucose monitoring in adolescents with type 1 diabetes: Ramadan versus non-Ramadan.

AIM: To assess the impact of fasting on interstitial glucose (IG) in adolescents with type 1 DM (T1DM) by using continuous glucose monitoring (CGM). METHOD: A minimum of 2.5 days CGM was done on adolescents with T1DM during fasting in Ramadan and in the month before or after Ramadan to compare the differences in mean IG, and in the durations of hypoglycemia (<70 mg/dL), hyperglycemia (200-299 mg/dL), and severe hyperglycemia (≥300 mg/dL). RESULTS: Fourteen adolescents were studied, age 15 ±â€¯4 years, duration of diabetes 6 ±â€¯4 years, and HbA1C 8.6 ±â€¯1.1% (70.3 mmol/mol). There was no difference in the mean IG (190 ±â€¯39 and 180 ±â€¯37, p= 0.4), or in the durations of hypoglycemia (5.14 ±â€¯5% and 7.03 ±â€¯4.9%, p=0.3), hyperglycemia (25.35 ±â€¯11.3% and 24.24 ±â€¯10.1% (P=0.7)), and severe hyperglycemia (13.21 ±â€¯13.4% and 10.96 ±â€¯10.6%, P=0.6), between Ramadan and, non-Ramadan, respectively. CONCLUSION: Adolescents with T1DM have the same wide fluctuation in IG during fasting in Ramadan as they do outside Ramadan. Insulin regimen adjustment should be targeting both extremes of glucose abnormality.

A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome.

Mitchell-Riley syndrome is a genetic disorder characterized by neonatal diabetes, pancreatic hypoplasia, intestinal atresia and/or malrotation, biliary atresia, and gallbladder aplasia or hypoplasia. It was considered a variant of the Martinez-Frias syndrome with similar phenotypic characteristics, except for neonatal diabetes and tracheoesophageal fistula. However, the genetic mutation in (regulatory factor X on chromosome 6) RFX6 was only detected in babies who had diabetes, making it different from the previously known mutations for the disease. This is the first reported case of a classical Mitchell-Riley syndrome in the Arab peninsula along with additional features and novel mutations in the RFX6 gene.

Prevalence of autoantibodies in type 1 diabetes patients and its association with the clinical presentation - UAE Eastern Region experience.

BACKGROUND: Positive autoantibodies and its association with the clinical course of type 1 diabetes mellitus (T1DM) have been reported worldwide, however, no such data have been reported in United Arab Emirates population. OBJECTIVES: To study the prevalence of positive autoantibodies in T1DM pediatric patients and its association with the clinical presentation. METHODS: Descriptive retrospective chart review of all new cases of pediatric T1DM at Tawam Hospital. Electronic patient records accessed to obtain data. RESULTS: 61 patients were identified. 88%±8.1 had at least 1 positive antibody and 82% of all patients were positive for anti-glutamic acid decarboxylase (GAD). While comparing the group of any positive antibody (n=54) with the group of all negative antibodies (n=7), a significant difference was found in the mean HbA1C (p=0.02) and nationality (p=0.03). CONCLUSION: The vast majority of our T1DM pediatric patients are autoantibody positive, and anti-GAD antibodies were the most commonly detected antibodies.