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Oligogenic inheritance in severe adult obesity

Almansoori S, Alsters SI, Yiorkas AM, Nor Hashim NA, Walters RG, Chahal HS, et al.

Int J Obes (Lond), 2024 Jan 31.
PMID: 38297031 DOI: 10.1038/s41366-024-01476-9

BACKGROUND/OBJECTIVE: The genetic architecture of extreme non-syndromic obesity in adults remains to be elucidated. A range of genes are known to cause monogenic obesity, but even when pathogenic mutations are present, there may be variable penetrance.
METHODS: Whole-exome sequencing (WES) was carried out on a 15-year-old male proband of Pakistani ancestry who had severe obesity. This was followed by family segregation analysis, using Sanger sequencing. We also undertook re-analysis of WES data from 91 unrelated adults with severe obesity (86% white European ancestry) from the Personalised Medicine for Morbid Obesity (PMMO) cohort, recruited from the UK National Health Service.
RESULTS: We identified an oligogenic mode of inheritance of obesity in the proband's family-this provided the impetus to reanalyze existing sequence data in a separate dataset. Analysis of PMMO participant data revealed two further patients who carried more than one rare, predicted-deleterious mutation in a known monogenic obesity gene. In all three cases, the genes involved had known autosomal dominant inheritance, with incomplete penetrance.
CONCLUSION: Oligogenic inheritance may explain some of the variable penetrance in Mendelian forms of obesity. We caution clinicians and researchers to avoid confining sequence analysis to individual genes and, in particular, not to stop looking when the first potentially-causative mutation is found.
Fulltext Diabetes and Ramadan: Practical guidelines

Hassanein M, Al-Arouj M, Hamdy O, Bebakar WMW, Jabbar A, Al-Madani A, et al.

Diabetes Res Clin Pract, 2017 Apr;126:303-316.
PMID: 28347497 DOI: 10.1016/j.diabres.2017.03.003

Ramadan fasting is one of the five pillars of Islam and is compulsory for all healthy Muslims from puberty onwards. Exemptions exist for people with serious medical conditions, including many with diabetes, but a large number will participate, often against medical advice. Ensuring the optimal care of these patients during Ramadan is crucial. The International Diabetes Federation (IDF) and Diabetes and Ramadan (DAR) International Alliance have come together to deliver comprehensive guidelines on this subject. The key areas covered include epidemiology, the physiology of fasting, risk stratification, nutrition advice and medication adjustment. The IDF-DAR Practical Guidelines should enhance knowledge surrounding the issue of diabetes and Ramadan fasting, thereby empowering healthcare professionals to give the most up-to-date advice and the best possible support to their patients during Ramadan.
Digitising diabetes education for a safer Ramadan: Design, delivery, and evaluation of massive open online courses in Ramadan-focused diabetes education

Mackenzie SC, Dickson J, Mehar S, Yusof BNM, Alselmi A, Aksi B, et al.

Prim Care Diabetes, 2024 Mar 15.
PMID: 38493066 DOI: 10.1016/j.pcd.2024.03.002

AIMS: Ramadan-focused diabetes education is critical to facilitate safer Ramadan fasting amongst Muslim people living with diabetes. We present the design, delivery, and evaluation of two parallel massive open online courses (MOOCs) in Ramadan-focused diabetes education for people with diabetes and HCPs.
METHODS: Two Ramadan-focused diabetes education MOOCs were developed and delivered for Ramadan 2023: one for HCPs in English, and another for people with diabetes in English, Arabic and Malay. A user-centred iterative design process was adopted, informed by user feedback from a 2022 pilot MOOC. Evaluation comprised a mixed-methods evaluation of pre- and post-course user surveys.
RESULTS: The platform was utilised by people with diabetes and their family, friends and healthcare professionals. Overall, a total of 1531 users registered for the platform from 50 countries, 809 started a course with a 48% subsequent completion rate among course starters. Qualitative analysis showed users found the course a user-friendly and authoritative information source. In the HCP MOOC, users reported improved post-MOOC Ramadan awareness, associated diabetes knowledge and ability to assess and advise patients in relation to their diabetes during Ramadan (p<0.01).
CONCLUSIONS: We demonstrate the potential of MOOCs to deliver culturally tailored, high-quality, scalable, multilingual Ramadan-focused diabetes education to HCPs and people with diabetes.
Diabetes and Ramadan: Practical guidelines 2021

Hassanein M, Afandi B, Yakoob Ahmedani M, Mohammad Alamoudi R, Alawadi F, Bajaj HS, et al.

Diabetes Res Clin Pract, 2022 Jan 08.
PMID: 35016991 DOI: 10.1016/j.diabres.2021.109185

Fasting during Ramadan is one of the five pillars of Islam and is obligatory for all healthy Muslims from the age of puberty. Though individuals with some illness and serious medical conditions, including some people with diabetes, can be exempted from fasting, many will fast anyway. It is of paramount importance that people with diabetes that fast are given the appropriate guidance and receive proper care. The International Diabetes Federation (IDF) and Diabetes and Ramadan (DaR) International Alliance have come together to provide a substantial update to the previous guidelines. This update includes key information on fasting during Ramadan with type 1 diabetes, the management of diabetes in people of elderly ages and pregnant women, the effects of Ramadan on one's mental wellbeing, changes to the risk of macrovascular and microvascular complications, and areas of future research. The IDF-DAR Diabetes and Ramadan Practical Guidelines 2021 seek to improve upon the awareness, knowledge and management of diabetes during Ramadan, and to provide real-world recommendations to health professionals and the people with diabetes who choose to fast.