Fragile X syndrome (FXS) is a neurodevelopmental disorder commonly found worldwide, caused by the silencing of fragile X mental retardation 1 (FMR1) gene on the X-chromosome. Most of the patients lost FMR1 function due to an expansion of cytosine-guanine-guanine (CGG) repeat at the 5’ untranslated region (5’UTR) of the gene. The purpose of this study is to identify the prevalence of FXS and characterize the FMR1 gene CGG repeats distribution among children with developmental disability in Malaysia. Genomic DNA of 2201 samples from different ethnicities (Malays, Chinese, Indian and others) of both genders were PCR-amplified from peripheral blood leukocytes based on specific primers at 5’UTR of FMR1 gene. Full mutations and mosaics were successfully identified by triple methylation specific PCR (ms-PCR) and subsequently verified with FragilEase kit. The findings revealed for the first time the prevalence of FXS full mutation in children with developmental disability in Malaysia was 3.5%, a slightly higher figure as compared to other countries. Molecular investigation also identified 0.2% and 0.4% probands have permutation and intermediate alleles, respectively. The CGG repeats length observation showed 95% of patients had normal alleles within 11 to 44 CGG repeats; with 29 repeats found most common among Malays and Indians while 28 repeats were most common among Chinese. In conclusion, this is the first report of prevalence and characterisation of CGG repeats that reflects genetic variability among Malaysian ethnic grouping.

INTRODUCTIONDiabetes mellitus (DM) is a chronic disease that is prevalent in many countries. The prevalence of DM is on the rise, and its complications pose a heavy burden on the healthcare systems and on the patients' quality of life worldwide.

MATERIALS AND METHODSThis is a multicentre, cross-sectional study involving 5 Health Clinics conducted by Family Medicine Specialists in Malaysia. Convenience sampling of 100 respondents with DM were selected. The International Classifi cation of Functioning, Disability and Health (ICF) based measures were collected using the Comprehensive Core Set for DM. SF-36 and self-administered forms and comorbidity questionnaire (SCQ) were also used.

RESULTSNinety-seven percent had Type 2 DM and 3% had Type 1 DM. The mean period of having DM was 6 years. Body functions related to physical health including exercise tolerance (b455), general physical endurance (b4550), aerobic capacity (b4551) and fatiguability (b4552) were the most affected. For body structures, the structure of pancreas (s550) was the most affected. In the ICF component of activities and participation, limitation in sports (d9201) was the highest most affected followed by driving (d475), intimate relationships (d770), handling stress and other psychological demands (d240) and moving around (d455). Only 7% (e355 and e450) in the environmental category were documented as being a relevant factor by more than 90% of the patients.

CONCLUSIONThe content validity of the comprehensive ICF Core set DM for Malaysian population were identified and the results show that physical and mental functioning were impaired in contrast to what the respondents perceived as leading healthy lifestyles.

Adult ; Aged ; Cross-Sectional Studies ; Diabetes Mellitus ; classification ; epidemiology ; Disability Evaluation ; Female ; Health Status ; Humans ; International Classification of Diseases ; Malaysia ; epidemiology ; Male ; Middle Aged ; Physical Endurance ; Quality of Life ; Surveys and Questionnaires ; Young Adult

Congenital malformations (CM) comprise a wide range of abnormalities of body structure or function that are present at birth and are of prenatal origin. It has contributed to a significant proportion of infant morbidity and mortality. The aims of this study were to determine the extent and investigate the relationship between CM and its associated demographic variables. Data was extracted from Ministry of Health (MOH) database compiled from the reports on Stillbirth & Under 5 Mortality from year 2013 to 2014. Out of 9,827 child death, 2,840 (28.9%) were classified under CM as defined under ICD-10 classification. Majority of those with CMs died at neonatal stage (62.7%) and among mothers aged between 20 to 35 years old (67.3%). The mean age of mothers among CM children was 30.8±6.5 years old. Approximately 5.8%, 6.7% and 3.3 % of total CM were neural tube defects, heart defects and hydrops fetalis respectively. The prevalence of CM in males was 15% higher than females. The difference were evident between CM and age of death of children under 5 years old (p<0.001) as well as between CM and maternal age groups (p<0.001). CM is responsible for 28.9% of total causes of child death with higher occurrence of malformation in males. A significantly higher risk of CMs among mother aged between 20 to 35 years old was observed. This emphasises the importance of raising awareness and the need to strengthen appropriate response for surveillance and prevention program of common CM in Malaysia.