1.Severe Developmental Delay, Epilepsy and Neonatal Diabetes (DEND) Syndrome: A case report
Muhd Alwi Muhd Helmi ; Suhaimi Hussain
Journal of the ASEAN Federation of Endocrine Societies 2020;35(1):125-128
Developmental delay, Epilepsy and Neonatal Diabetes (DEND) syndrome is the most severe form of Permanent Neonatal Diabetes with KCNJ11 gene mutation which accounts for most of the cases. We report the first DEND syndrome in Malaysia with heterozygous missense mutation Q52R at KCNJ11 (Kir6.2) gene with delayed presentation beyond 6 months of age and failure to transition to glibenclamide. This report signifies the phenotypical variability among patients with the same genetic mutation and the different response to treatment.
Glyburide
2.Beneficial Outcomes of Omega-6 and Omega-3 Polyunsaturated Fatty Acids on Malnourished Children: A Scoping Review
Nur Kamilah Mohd Fauzy ; Muhammad Salahuddin Haris ; Azrulein Ibrahim ; Muhd Alwi Muhd Helmi ; Sakinah Harith
Malaysian Journal of Medicine and Health Sciences 2023;19(No.6):285-296
Polyunsaturated fatty acids (PUFAs) intake may be beneficial in many aspects during the early phase of life. This
scoping review aims to examine the beneficial outcomes and intakes of omega-3 and omega-6 PUFA among children. An electronic database search on academic journals published from 2017 to 2021 was conducted using Science Direct, PubMed, and Google Scholar. A total of 35 studies were identified and included in this scoping review.
Majority of the findings found that PUFAs intake has a beneficial impact on the growth development, mental and
cognitive health among children whether they are malnourished, sick or healthy individuals. Overall, this review
may provide additional information on the benefits and recommended intake of supplementing PUFAs on children.
More detailed research on this topic is needed to support these findings since it will contribute to the formation of
the dietary intervention.