There is a need for country/population-specific databases because the existence of population-specific mutations for single gene disorders is well documented, and there is also good evidence for ethnic differences in the frequencies of genetic variations involved in complex disorders. Thus the Singapore Human Mutation/Polymorphism Database (SHMPD) was created to provide clinicians and scientists access to a central genetic database for the Singapore population. The data catalogued in the database include mutations identified in Singapore for Mendelian diseases, and frequencies of polymorphisms that have been investigated in either healthy controls or samples associated with specific phenotypes. Data from journal articles identified by searches in PubMed and other online resources, and via personal communications with researchers were compiled and assembled into a single database. Genes are categorized alphabetically and are also searchable by name and disease. The information provided for each variant of the gene includes the protein encoded, phenotype association, gender, size, and ethnic origin of the sample, as well as the reported genotype and allele frequencies, and direct links to the corresponding abstracts on PubMed. Our database will facilitate molecular diagnosis of Mendelian disorders and improve study designs for complex traits. It will be useful not only for researchers in Singapore, but also for those in countries with similar ethnic backgrounds, such as China, Taiwan, Hong Kong, Indonesia, and Malaysia.
Matched MeSH terms: Genetic Predisposition to Disease*
Dengue continues to be a major health threat to Malaysia a century after its first reported outbreak in 1902. Examination of the available outbreak data suggested that a major DF/DHF outbreak occurred in Malaysia in a cyclical pattern of approximately every 8 years. All four dengue virus serotypes are found co-circulating in Malaysia, but after the first and only major outbreak involving DEN-4 in 1960's, only DEN-1, DEN-2 and DEN-3 were associated with DF/DHF outbreaks. It is argued that perhaps the spread of the later dengue virus serotypes followed the pattern of spread of the mosquito vector Aedes aegypti, whereas the former was associated with Aedes albopictus, the outdoor and rural area dwelling mosquito. Estimating from the trend and pattern of dengue and the associated dengue virus serotypes, unless there is a major breakthrough in dengue vaccine development, it is likely that dengue outbreaks will continue to occur in Malaysia throughout the 21st century.
Chronic obstructive pulmonary disease (COPD) is a systemic disease that leads to weight loss and muscle dysfunction resulting in an increase in mortality. This study aimed to determine the prevalence rate of malnutrition and nutritional status and also factors associated with nutritional status. A total of 149 subjects were involved in the cross-sectional study. The study was conducted at two medical centers in Kuala Lumpur, Malaysia. The results of the study showed that malnutrition was more prevalent (52.4%) in the subjects with severe stages of COPD as compared to mild and moderate COPD stages (26.2%) (P < 0.05). Fat-free mass depletion as assessed using fat-free mass index (FFMI) affected 41.9% of the subjects. Plasma vitamin A, peak expiratory flow (PEF), and handgrip were the predictors for body mass index (BMI) (R(2) = 0.190, P < 0.001). Plasma vitamin A and force expiratory volume in one second (FEV(1)) were the predictors of FFMI (R(2) = 0.082, P = 0.007). BMI was the predictor of respiratory factors, that is, FEV(1)% predicted (R(2) = 0.052, P = 0.011). It can be concluded that there is a need to identify malnourished COPD patients for an appropriate nutrition intervention.
Study site: outpatient clinics, Pusat Perubatan Universiti Kebangsaan Malaysia (PPUKM), Institute of Respiratory Medicine
Rice blast is one of the major fungal diseases that badly reduce rice production in Asia including Malaysia. There is not much information on identification of QTLs as well as linked markers and their association with blast resistance within local rice cultivars. In order to understanding of the genetic control of blast in the F3 families from indica rice cross Pongsu seribu2/Mahsuri, an analysis of quantitative trait loci against one of the highly virulent Malaysian rice blast isolate Magnaporthe oryzae, P5.0 was carried out. Result indicated that partial resistance to this pathotype observed in the present study was controlled by multiple loci or different QTLs. In QTL analysis in F3 progeny fifteen QTLs on chromosomes 1, 2, 3, 5, 6, 11 and 12 for resistance to blast nursery tests was identified. Three of detected QTLs (qRBr-6.1, qRBr-11.4, and qRBr-12.1) had significant threshold (LOD >3) and approved by both IM and CIM methods. Twelve suggestive QTLs, qRBr-1.2, qRBr-2.1, qRBr-4.1, qRBr-5.1, qRBr-6.2, qRBr-6.3, qRBr-8.1, qRBr-10.1, qRBr-10.2, qRBr-11.1, qRBr-11.2 and qRBr-11.3) with Logarithmic of Odds (LOD) <3.0 or LRS <15) were distributed on chromosomes 1, 2, 4, 5, 6, 8, 10, and 11. Most of the QTLs detected using single isolate had the resistant alleles from Pongsu seribu 2 which involved in the resistance in the greenhouse. We found that QTLs detected for deferent traits for the using isolate were frequently located in similar genomic regions. Inheritance study showed among F3 lines resistance segregated in the expected ratio of 15: 1 for resistant to susceptible. The average score for blast resistance measured in the green house was 3.15, 1.98 and 29.95 % for three traits, BLD, BLT and % DLA, respectively.
Chronic illness is one of the major causes of mortality and morbidity among the elderly. To determine the prevalence and factors associated with chronic illness among the elderly in a rural community setting. A cross sectional study design was used. Stratified proportionate cluster sampling method was used to select respondents in Mukim Sepang, Sepang, Selangor, Malaysia. Out of 263 elderly residents (6.2% of the total population), 223 agreed to participate in the study giving a response rate of 84.8%. The prevalence of chronic illness among the elderly in Mukim Sepang was 60.1%. Out of 223 respondents, 134 were diagnosed as having chronic illness such as hypertension, diabetes mellitus, ischaemic heart disease, bronchial asthma or gout. Chronic illness was found to be significantly associated with functional dependence among the elderly (chi2=6.863, df=1, p<0.05). The prevalence of chronic illness among the elderly in the rural community is very high. Problems facing this age-group should be addressed comprehensively in order to formulate appropriate programmes for the health care of the elderly.
Nucleotide sequence comparison of the L gene of the Malaysian neurotropic-viscerotropic velogenic NDV strain AF2240 with other NDV strains revealed a single nucleotide insertion at position 3870. This mutation is compensated by a nucleotide deletion downstream at position 3958 which results in two forms of the L proteins containing a 30-amino acid substitution in Domain V. This compensatory mutation does not correlate with the pathogenicity of the viral strains but it may affect the viral replication as Domain V is believed to play an important role in the replication of paramyxoviruses.
The etiology of systemic lupus erythematosus (SLE) is unknown but genetic factors seem to play a role in the disease pathogenesis. The tumor necrosis factor alpha (TNFa) gene, encoded at the TNF locus in the MHC class III region, is now known to be an important candidate gene in SLE, due to the proinflammatory activities of the TNFa. The objectives of this study were to examine the role of the TNFa polymorphism for the susceptibility of Malaysian Chinese lupus patients to SLE and to determine its association with organ involvement. The allelic frequencies of the TNFa polymorphic variant (TNF2) of seventy lupus patients were determined during follow-up at the Medical Clinic of the National University Hospital Malaysia by PCR-RFLP technique. Sixty-four females and 6 males with a mean age of 33+/-12 years were included. Clinical data were obtained from case records. Autoantibody levels were measured by ELISA. Fifty-nine ethnically-matched blood donors were used as controls. The allelic frequency of the TNF2 variant was found to be significantly increased in the patients compared to the controls (52.8% vs 33.8%). SLE patients with the polymorphic TNF2 variant were found to be at increased risk of central nervous system involvement (p = 0.004, RR = 2.59) and to have an increased frequency of anti-La antibodies (p = 0.03). In view of these findings we suggest that TNF2 variant is playing a role in conferring susceptibility to SLE and in the disease pathogenesis.
Study site: Pusat Perubatan Universiti Kebangsaan Malaysia (PPUKM), Kuala Lumpur, Malaysia
Matched MeSH terms: Genetic Predisposition to Disease*
A 6-year review of complications of mastoid surgery between June 1995 and June 2001 revealed five cases with serious iatrogenic complications from mastoid surgery, of which four were facial nerve palsy and two were labyrinthine fistula. One of these patients had concomitant facial nerve palsy and labyrinthine fistula. There were two cases of complete facial nerve palsy (House Brackmann grade VI) and two cases of incomplete palsy (House Brackmann grades IV and V). The second genu was the site of injury in three of the four cases. Of the four cases with facial nerve palsy, two patients had full recovery (House Brackmann grade I), one recovered only to House Brackmann grade III, and one was lost to follow-up. Both patients with labyrinthine fistula had postoperative vertigo and profound sensorineural hearing loss. The site of iatrogenic fenestration was the lateral semicircular canal in both cases.
In the year 2001, 1459 Tuberculosis (TB) cases (43.1/100,000 population) were notified in Selangor. The highest age specific incidence rate was among those aged above 60 years and foreigners accounted for 15% of the cases notified. Fifteen percent of the TB cases were treated in the private sector where treatment efficacy and compliance could not be evaluated. Co- infection of Human Immunodeficiency Virus (HIV) infection with TB accounted for 51% of the TB deaths notified. Screening programmes in prisons and drug rehabilitation centres had detected 11.7% of HIV/TB coinfection among HIV positive inmates screened in these institutions.
Neuregulin-1 is widely investigated due to its hypothesised association with schizophrenia. Single-nucleotide polymorphisms rs764059, rs2954041 and rs3924999 were investigated (417 patients with schizophrenia and 429 controls). We failed to demonstrate a significant association between rs2954041 and rs3924999 with schizophrenia in the three ethnic groups studied (Malay, Chinese, and Indian), while rs764059 was found to be monomorphic.
Matched MeSH terms: Genetic Predisposition to Disease/genetics*
Gilbert syndrome is caused by defects in the uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) gene. These mutations differ among different populations and many of them have been found to be genetic risk factors for the development of neonatal jaundice.
To assess the level of knowledge, attitude and practice (KAP) on SARS and its preventive measures among the rural population of Kuala Kangsar district. This KAP study was also done to identify the expectation and preference of rural population upon obtaining health information. This is a cross-sectional study of 201 households from four villages in Kuala Kangsar. Face-to-face interview was done regarding knowledge, attitude and practice on SARS and its preventive measures. Statistical analyses were performed with SPSS (Version 10.0). A scoring system was used to assess the level of knowledge, attitude and practice towards SARS. Ninety one percent of the study population was aware of SARS. Majority of them have good attitude towards SARS based on the formulated scoring system. Television was found to be the first hand information about SARS and most preferred source of information by the rural population. Knowledge and attitude of respondents concerning SARS were good. Television was found to be the preference among the rural population in obtaining health information.
The diversity of Singapore's population affords a unique opportunity to study ethnic variability in the dementias. We sought to explore the effects of ethnicity on the frequency of Alzheimer disease and vascular dementia in a large Singaporean sample. A total of 357 patients were studied: 190 with vascular dementia and 167 with Alzheimer disease. Vascular dementia was more common among Chinese and Malays, whereas Alzheimer disease was more common in Indians and Eurasians. Factors that may contribute to the observed ethnic variability in dementia etiologies include differential frequency of the ApoE-e4 allele, frequency of vascular risk factors, lifestyle choices, and cultural attitudes toward health care utilization.
Extramammary Paget's disease (EMPD) is a rare disorder and may be found in the vulva, scrotum, penile area, perianal region and the groin. Frequently, it is associated with an underlying regional neoplasm or internal malignancy. We report 2 cases of EMPD; one involving the scrotal area and the other the vulva. Both were elderly patients who presented to the dermatologists with chronic eczematous lesions in the perineum that did not respond to topical treatment. Skin biopsies confirmed extramammary Paget's disease. Investigations for internal malignancies were negative. However, one of the patients defaulted treatment before surgery. The other patient had two excision surgeries with skin grafting to try to achieve tumour free margins. A long term follow-up was planned for him to look for recurrences. These cases emphasise that EMPD can mimic exudative dermatitis and present as a chronic non-healing lesion in the perineum for many years. Clinicians should have a high index of suspicion to pick up the disease early by biopsy. Various immunohistochemical markers not only can help differentiate other histological diagnoses but also help predict the presence of underlying malignancies. Management of EMPD included thorough search for occult or underlying malignancy followed by complete excision surgery with intraoperative frozen sections. Even then, recurrences are high for this disease and long term follow-up is advocated.
A study was carried out from July 2001 until January 2003 in the Kinabatangan area of Sabah, part of Borneo island, where malaria used to be mesoendemic. Vector surveys determined that Plasmodium falciparum was the predominant species and Anopheles balabacensis the primary vector. Malaria cases have dropped drastically over the years but P. falciparum is still predominant. In the present study, Anopheles donaldi was the predominant species and was positive for sporozoites. Although An. balabacensis was present, none were infective. An. donaldi bite more outdoors than indoors and have a peak biting time from 18:00 to 19:00 h when most people are still out of their homes. An integrated malaria control programme along with area development has helped in the control of malaria and its vector.
A Hepatitis A outbreak occurred in Mukim Hulu Langat, Hulu Langat district from April 2002 to October 2002. Of the 51 cases notified, most were among students and the ethnic groups involved were Malays and the Orang Asli (local indigenous community). Epidemiological investigations revealed that the cases were localized along rivers used for recreational activities in this area. River water analysis indicated human faecal contamination and it was believed that the contamination was due to the Orang Asli community living upstream. This occurred due to lack of toilet facilities, water at point of use and the existing traditional practices of the Orang Asli community. Control measures instituted were intense health education to the Orang Asli to avoid using the rivers for defecation, multi agency efforts to provide sanitary toilets and adequate water to the villages affected. Future measures include conducting a sero- prevalence survey to determine the feasibility of Hepatitis A immunization to the susceptible population in this area. The outbreak that began in April 2002 was controlled by October 2002.