Mucopolysaccharidoses (MPS) are a group of inherited disorders caused by the defi ciency of specifi c lysosomal enzymes involved in glycosaminoglycans (GAGs) degradation. Currently, there are 11 enzyme defi ciencies resulting in seven distinct MPS clinical syndromes and their subtypes. Different MPS syndromes cannot be clearly distinguished clinically due to overlapping signs and symptoms. Measurement of GAGs content in urine and separation of GAGs using high-resolution electrophoresis (HRE) are very useful initial screening tests for isotyping of MPS before specifi c enzyme diagnostics. In this study, we measured total urinary GAGs by a method using dimethylmethylene blue (DMB), and followed by isolation and separation of GAGs using high resolution electrophoresis (HRE) technique. Of 760 urine samples analyzed, 40 have abnormal GAGs HRE patterns. Thirty-fi ve of these 40 cases have elevated urinary GAGs levels as well. These abnormal HRE patterns could be classifi ed into 4 patterns: Pattern A (elevated DS and HS; suggestive of MPS I, II or VII; 16 cases), Pattern B (elevated HS and CS; suggestive of MPS III; 17 cases), and Pattern C (elevated KS and CS; suggestive of MPS IV, 5 cases), and Pattern D (elevated DS; suggestive of MPS VI; 2 cases). Based on the GAGs HRE pattern and a few discriminating clinical signs, we performed selective enzymatic investigation in 16 cases. In all except one case with MPS VII, the enzymatic diagnosis correlated well with the provisional MPS type as suggested by the abnormal HRE pattern. Our results showed that GAGs HRE is a useful, inexpensive and practical fi rst-line screening test when MPS is suspected clinically, and it provides an important guide to further enzymatic studies on a selective basis.

MicroRNAs (miRNAs) are mostly located at cancer-associated genomic regions or in fragile sites, suggesting their important role in the pathogenesis of human cancers. Multiple myeloma (MM) is a cancer of plasma cells, the third most common cancer of the blood after lymphoma and leukaemia. There are several published reports on miRNAs in MM, however most used bone marrow rather than peripheral blood samples. The aim of this study is to characterise miRNA expression in normal and MM patients using peripheral blood samples as it is less invasive and is readily available from patients. Blood samples from 35 MM patients were analysed using the microarray method. We identified up-regulation of 36 miRNAs (57%) and down-regulation of 27 miRNAs (43%). We also identified the CCND2, HMGA2 and IGF1R genes were among the highly predictive target genes (P(CT) > 0.80) for most of the deregulated miRNAs. These genes are known to play important roles in MM as well as other cancers. Five miRNAs (let-7c, miR-16, miR- 449, miR-181a and miR-181b) were found to exhibit similar expression patterns (p < 0.05) in peripheral blood when compared to data obtained by using bone marrow aspirates from MM patients in other studies. In conclusion, our study has demonstrated that miRNAs are also present and differentially expressed in the peripheral blood of MM patients compared to controls and may potentially serve as candidate tumour biomarkers in MM. In particular, let-7c and miR-16 have been shown to be significantly expressed in the bone marrow.

Prosthodontic rehabilitation and management of microstomia patient presents challenges at all stages during prosthesis fabrication; from making primary impressions to the prostheses insertion. These patients have reduced mouth opening, and hence it can be extremely challenging to make impressions and to fabricate dentures using the conventional methods. The present case report describes prosthodontic management of a partially dentate patient with microstomia that developed secondary to surgical resection and radiation therapy of head and neck cancer. A simplified novel approach has been advocated using the patient’s existing metal removable partial denture as a key in master cast preparation.
Microstomia

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.