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Fulltext Molecular epidemiology of respiratory viruses among Malaysian Young children with a confirmed respiratory infection during 2014-2015

Yew SM, Tan KL, Yeo SK, Ng KP, Kuan CS

J Thorac Dis, 2019 Nov;11(11):4626-4633.
PMID: 31903251 DOI: 10.21037/jtd.2019.10.69

BACKGROUND: In many developing countries, acute respiratory tract infections (ARTIs) are the main cause of morbidity and mortality among young children. This study aims to evaluate the molecular epidemiology of respiratory viruses among Malaysian children with confirmed respiratory infections between July 2014 and July 2015.
METHODS: A total of 394 nasopharyngeal swabs were collected prospectively from children age 0-5 years old with ARTIs from hospitals in Kuala Lumpur. Respiratory viral panel (RVP) assay was used to identify the viral aetiology of respiratory infections.
RESULTS: From a total of 394 samples, the positive detection rate was 79.9% (n=315). A total of 15 types of RNA viruses and a single type of DNA virus were detected. Enterovirus/rhinovirus (n=112, 28.4%), respiratory syncytial virus (RSV) (n=85, 21.6%), adenovirus (n=64, 16.2%), human bocavirus (n=34, 8.6%), and human metapneumovirus (n=29, 7.4%) were the five predominant viruses. Enterovirus/rhinovirus and RSV constituted most of the viral respiratory infections among young children, especially among children less than 1 year old. No coronavirus was detected among children between 3 and 5 years old. Co-infection caused by 2 or 3 respiratory viruses were detected in 52 patients (13.2%). Enterovirus/rhinovirus, adenovirus, and human bocavirus demonstrated pronounced seasonality. The infection rate peaked during mid-year, while the lowest activity occurred during early of the year.
CONCLUSIONS: The use of molecular assay as a routine diagnostic in the hospitals can improve the diagnosis and management of respiratory tract infections among children.
Fulltext Demographic Factors Associated With Public Awareness of Chiropractic in Klang Valley, Malaysia: A Cross-sectional Study

Wong YK, Tan KL, Haneline MT

J Chiropr Med, 2022 Sep;21(3):187-196.
PMID: 36118112 DOI: 10.1016/j.jcm.2022.02.020

OBJECTIVE: The purposes of this study were to determine the public awareness of chiropractic in Klang Valley and to identify sociodemographic factors associated with this awareness.
METHODS: A cross-sectional study with a total of 440 respondents was conducted in medical, chiropractic, pharmacy, and dental health care facilities in Klang Valley. A self-administrated questionnaire was enclosed in an envelope and handed to the participants by the health care facilities' staff. Tables and figures were used to present the descriptive data. Data collected were also analyzed using inferential statistics such as binary logistic regression, odds ratio, and 95% confidence interval. The variables in this study were age, ethnicity, sex, education level, marital status, nationality, employment status, and health status along with awareness of chiropractic.
RESULTS: The respondents' ages ranged from 18 to 81 years, and the mean age was 33.1 years. The majority of respondents were single (52.1%), and 43.1% of respondents were married. Most of the respondents were employed (64.4%), followed by students (14.8%). Among the respondents, 40.2% perceived to have a good health status. Good awareness of chiropractic was 50.2%, whereas the poor awareness of chiropractic was 49.8%. Two sociodemographic factors that were statistically significantly associated with the awareness of chiropractic were ethnicity and employment status, with a P value of
Fulltext Chiropractic Utilization Among Patients in Klang Valley, Malaysia

Wong YK, Tan KL, Haneline MT

J Chiropr Med, 2020 Sep;19(3):159-166.
PMID: 33362438 DOI: 10.1016/j.jcm.2019.10.003

OBJECTIVE: The purpose of this study was to estimate the utilization of chiropractic in Klang Valley, Malaysia.
METHODS: This research was a cross-sectional study conducted in 4 health care centers, namely Klinik Mediviron Sri Rampai, Queck Dental Surgery, International Medical University (IMU) Healthcare Chiropractic Centre, and Be Pharmacy Bandar Sri Permaisuri, in Klang Valley from July to November 2018, with a total of 440 respondents. The data collection was done by the self-administration method using questionnaires that were enclosed in envelopes and passed on to the participants by the center's staff. Descriptive statistics were conducted on the data collected and are presented in tables and figures. The variables were sex, age, nationality, ethnicity, marital status, education level, employment status, and health status with the utilization of chiropractic.
RESULT: There were 186 (42.3%) male and 254 (57.7%) female respondents. The youngest respondent was 18 years old, and the oldest was 81 years old. The median age was 30 years old. Most respondents (97.3%) were Malaysian from a non-Bumiputra (non-Malay) ethnic group. Almost half (47.5%) of the respondents had a bachelor's degree education level. The utilization of chiropractic was 35.9% (95% confidence interval [CI]: 31.4-40.5).
CONCLUSION: The utilization of chiropractic was 35.9%, which was slightly lower than utilization among other traditional and complementary medicine practices in Malaysia.
Public Awareness of the Traditional and Complementary Medicine Act Governing Chiropractic in Malaysia: A Survey of Adults in Klang Valley

Wong YK, Haneline MT, Tan KL

J Chiropr Humanit, 2023 Dec;30:16-22.
PMID: 37822922 DOI: 10.1016/j.echu.2023.08.002

OBJECTIVE: This study aimed to assess the level of awareness of the traditional and complementary medicine law governing chiropractic among adults in Klang Valley, Malaysia.
METHODS: A cross-sectional study was conducted of patients attending the following 4 health care services: medicine, dentistry, pharmacy, and chiropractic. The study ran from July to November 2018. Data were collected through self-administered questionnaires and reported using descriptive statistics. Variables included demographic characteristics and awareness of the Traditional and Complementary Medicine Act 2016 (Act 775).
RESULTS: We obtained 440 responses, 186 (42.3%) from men and 254 (57.7%) from women, with ages ranging from 18 to 81 years. The majority of respondents (97.3%) were Malaysian from the non-Malay ethnic group. Almost half (47.5%) of the respondents had a bachelor's degree. The awareness of the traditional and complementary medicine law governing chiropractic was low (4.8%). Binary logistic regression revealed marital status as the only significant predictor of awareness of the Traditional and Complementary Medicine Act, with married individuals showing higher awareness (adjusted odds ratio: 2.77; 95% CI, 1.38-5.58).
CONCLUSION: For this sample of adults, the awareness of the Traditional and Complementary Medicine Act 2016 governing chiropractic was found to be low. As the regulation of chiropractic is still new in Malaysia and other Asian countries, efforts are needed to increase public awareness to ensure the safety and quality of chiropractic services.
Fulltext Molecular characterisation and frequency of Ggamma Xmn I polymorphism in Chinese and Malay beta-thalassaemia patients in Malaysia

Wong YC, George E, Tan KL, Yap SF, Chan LL, Tan JA

Malays J Pathol, 2006 Jun;28(1):17-21.
PMID: 17694955

The molecular basis of variable phenotypes in P-thalassaemia patients with identical genotypes has been associated with co-inheritance of alpha-thalassaemia and persistence of HbF production in adult life. The Xmn I restriction site at -158 position of the Ggamma-gene is associated with increased expression of the Ggamma-globin gene and higher production of HbF This study aims to determine the frequency of the digammaferent genotypes of the Ggamma Xmn I polymorphism in P-thalassaemia patients in two ethnic groups in Malaysia. Molecular characterisation and frequency of the Ggamma Xmn I polymorphism were studied in fifty-eight Chinese and forty-nine beta-thalassaemia Malay patients by Xmn I digestion after DNA amplification of a 650 bp sequence. The in-house developed technique did not require further purification or concentration of amplified DNA before restriction enzyme digestion. The cheaper Seakem LE agarose was used instead of Nusieve agarose and distinct well separated bands were observed. Genotyping showed that the most frequent genotype observed in the Malaysian Chinese was homozygosity for the absence of the Xmn I site (-/-) (89.7%). In the Malays, heterozygosity of the Xmn I site (+/-) was most common (63.3%). Homozygosity for the Xmn I site (+/+) was absent in the Chinese, but was confirmed in 8.2% of the Malays. The ratio of the (+) allele (presence of the Xmn I site) to the (-) allele (absence of the Xmn I site)) was higher in the Malays (0.66) compared to the Chinese (0.05). The (+/-) and (+/+) genotypes are more commonly observed in the Malays than the Chinese in Malaysia.
An immunohistochemical method for the diagnosis of melioidosis

Wong KT, Vadivelu J, Puthucheary SD, Tan KL

Pathology, 1996 May;28(2):188-91.
PMID: 8743829

In order to assess the usefulness of immunohistochemistry in the diagnosis of melioidosis, an infection by Burkholderia pseudomallei, polyclonal antibodies were applied to tissues from known cases of melioidosis and to other infected tissues. Formalin-fixed, paraffin-embedded tissues were stained by a modified immunoperoxidase technique. In autopsy tissues with inflammatory lesions of melioidosis, the cytoplasm of phagocytes and intact bacilli, both intra- and extracellular, were stained very strongly positive. Relatively more focal positive staining was observed in some but not all surgical biopsies from proven cases of melioidosis. In granulomas staining was mainly found in the central necrotic areas, with little staining of peripheral phagocytes. All control materials stained negative. Immunohistochemistry appears to be a useful diagnostic tool in melioidosis.
Alpha-thalassaemia in association with beta-thalassaemia patients in Malaysia: a study on the co-inheritance of both disorders

Wee YC, Tan KL, Kuldip K, Tai KS, George E, Tan PC, et al.

Community Genet, 2008;11(3):129-34.
PMID: 18376108 DOI: 10.1159/000113874

BACKGROUND/AIMS: Individuals with double heterozygosity for alpha- and beta-thalassaemia and heterozygous beta-thalassaemia show a similar haematological picture. Co-inheritance of alpha- and beta-thalassaemia in both partners may result in pregnancies with either Hb Bart's hydrops foetalis or beta-thalassaemia major, or pregnancies with both disorders.
METHODS: The co-inheritance of alpha-thalassaemia in 322 beta-thalassaemia carriers in Malaysia was studied.
RESULTS: The frequency of alpha-thalassaemia in the beta-thalassaemia carriers was 12.7% (41/322), with a carrier frequency of 7.8% for the SEA deletion, 3.7% for the -alpha(3.7) deletion, 0.9% for Hb Constant Spring and 0.3% for the -alpha(4.2) deletion.
CONCLUSION: Double heterozygosity for alpha- and beta-thalassaemia was confirmed in 5 out of the 41 couples and the risk of the fatal condition Hb Bart's hydrops foetalis was confirmed in two of these couples. Detection of the Southeast Asian (SEA) deletion in the Malaysian Malays in this study confirms that Hb Bart's hydrops foetalis can occur in this ethnic group. Results of this study have provided new information on the frequency and different types of alpha-thalassaemia (--(SEA), -alpha(3.7) and -alpha(4.2) deletions, Hb Constant Spring) in Malaysian beta-thalassaemia carriers.
Heterogeneity in alpha-thalassemia interactions in Malays, Chinese and Indians in Malaysia

Wee YC, Tan KL, Chow TW, Yap SF, Tan JA

J Obstet Gynaecol Res, 2005 Dec;31(6):540-6.
PMID: 16343256 DOI: 10.1111/j.1447-0756.2005.00333.x

AIM: Interactions between different determinants of alpha-thalassemia raises considerable problems, particularly during pregnancies where antenatal diagnosis is necessary. This study aims to determine the different types of deletional alpha-thalassemia and Hemoglobin Constant Spring (HbCS), and their frequency in Malays, Chinese and Indians in Malaysia.
METHODS: DNA from 650 pregnant women from the Antenatal Clinic of the University of Malaya Medical Center in Kuala Lumpur, Malaysia who showed mean cell volume < or =89 fL and/or mean cell hemoglobin < or =28 pg were analyzed for the double alpha-globin gene South-East Asian deletion (--SEA), the -alpha3.7 and -alpha4.2 single alpha-globin gene deletions and HbCS.
RESULTS: One hundred and three (15.8%) of the pregnant women were confirmed as alpha-thalassemia carriers: 25 (3.8%) were alpha-thalassemia-1 carriers with the --SEA/alphaalpha genotype, 64 (9.8%) were heterozygous for the -alpha3.7 rightward deletion (-alpha3.7/alphaalpha), four (0.6%) were heterozygous for the -alpha4.2 leftward deletion (-alpha4.2/alphaalpha), nine (1.4%) were heterozygous for HbCS (alphaCSalpha/alphaalpha) and one (0.2%) was compound heterozygous with the -alpha3.7/alphaCSalpha genotype. The double alpha-globin gene --SEA deletion was significantly higher in the Chinese (15%) compared to the Malays (2.5%) and not detected in the Indians studied. The -alpha3.7 deletion was distributed equally in the three races. HbCS and -alpha4.2 was observed only in the Malays.
CONCLUSION: The data obtained gives a better understanding of the interactions of the different alpha-thalassemia determinants in the different ethnic groups, thus enabling more rapid and specific confirmation of alpha-thalassemia in affected pregnancies where antenatal diagnosis is necessary.
Study site: Antenatal clinic, University Malaya Medical Centre (UMMC), Kuala Lumpur, Malaysia
Fulltext Rapid and cost-effective antenatal diagnosis of haemoglobin Bart's hydrops foetalis syndrome using a duplex-polymerase chain reaction

Wee YC, Tan KL, Tan PC, Yap SF, Tan JAMA

Med J Malaysia, 2005 Oct;60(4):447-53.
PMID: 16570706

Haemoglobin Bart's hydrops foetalis syndrome (--SEA/--SEA) is not compatible with life and contributes to a majority of the hydropic foetuses in the Malaysian Chinese alpha-thalassaemia carriers who possess the 2-alpha-gene deletion in cis (--SEA/alphaalpha). A duplex-PCR which simultaneously amplifies a normal 136 bp sequence between the psialpha-alpha2-globin genes and a 730 bp Southeast Asian deletion-specific sequence (--SEA) between the psialpha2-theta1-globin genes was established. The duplex-PCR which detects the --SEA deletion in both chromosomes serves as a rapid and cost-effective confirmatory test in the antenatal diagnosis of Haemoglobin Bart's hydrops foetalis syndrome in Malaysia. In addition, the duplex-PCR is simple to perform as both the normal and deletion-specific alpha-globin gene sequences are amplified in the same PCR reaction.
Fulltext Molecular characterisation of Haemoglobin Constant Spring and Haemoglobin Quong Sze with a Combine-Amplification Refractory Mutation System

Wee YC, Tan KL, Chua KH, George E, Tan JA

Malays J Med Sci, 2009 Jul;16(3):21-8.
PMID: 22589661 MyJurnal

BACKGROUND: The interaction of the non-deletional α(+)-thalassaemia mutations Haemoglobin Constant Spring and Haemoglobin Quong Sze with the Southeast Asian double α-globin gene deletion results in non-deletional Haemoglobin H disease. Accurate detection of non-deletional Haemoglobin H disease, which is associated with severe phenotypes, is necessary as these mutations have been confirmed in the Malaysian population.
METHODS: DNA from two families with Haemoglobin H disease was extracted from EDTA-anticoagulated whole blood and subjected to molecular analysis for α-thalassaemia. A duplex polymerase chain reaction was used to detect the Southeast Asian α-globin gene deletion. Polymerase chain reaction-restriction fragment length polymorphism analysis was then carried out to determine the presence of Haemoglobin Constant Spring and Haemoglobin Quong Sze. A combine-amplification refractory mutation system protocol was optimised and implemented for the rapid and specific molecular characterisation of Haemoglobin Constant Spring and Haemoglobin Quong Sze in a single polymerase chain reaction.
RESULTS AND CONCLUSIONS: The combine-amplification refractory mutation system for Haemoglobin Constant Spring and Haemoglobin Quong Sze, together with the duplex polymerase chain reaction, provides accurate pre- and postnatal diagnosis of non-deletional Haemoglobin H disease and allows detailed genotype analyses using minimal quantities of DNA.
KEYWORDS: Combine-ARMS; Hb Constant Spring; Hb Quong Sze; medical sciences
Fulltext Characterisation of beta-globin gene mutations in Malaysian children: a strategy for the control of beta-thalassaemia in a developing country

Thong MK, Tan JA, Tan KL, Yap SF

J Trop Pediatr, 2005 Dec;51(6):328-33.
PMID: 15967770 DOI: 10.1093/tropej/fmi052

beta-thalassaemia major, an autosomal recessive hemoglobinopathy, is one of the most common single gene disorders in multi-racial Malaysia. The control of beta-thalassaemia major requires a multi-disciplinary approach that includes population screening, genetic counselling, prenatal diagnosis and the option of termination of affected pregnancies. To achieve this objective, the molecular characterisation of the spectrum of beta-globin gene mutations in each of the affected ethnic groups is required. We studied 88 consecutive unrelated individuals and their respective families with beta-thalassaemia (74 beta-thalassaemia major, 12 HbE-beta-thalassaemia, 2 with HbE homozygotes) and four individuals with beta-thalassaemia trait that contributed a total 180 alleles for study. Using a 2-step molecular diagnostic strategy consisting of amplification refractory mutation system (ARMS) to identify the 8 most common mutations followed by other DNA-based diagnostic techniques, a total of 177 (98.3 per cent) of the 180 beta-thalassaemia alleles were characterised. One out of 91 (1 per cent) of the Chinese alleles, one out of 46 (2.2 per cent) Malay alleles and one out of two Indian alleles remained unknown. A 100 per cent success rate was achieved in studying the Kadazandusun community in this study. A strategy to identify beta-globin gene mutations in Malaysians with beta-thalassaemia is proposed based on this outcome.
Iatrogenic tracheal flap mimicking tracheal stenosis with resultant stridor

Tan KL, Chong AW, Amin MA, Raman R

J Laryngol Otol, 2012 Jul;126(7):751-5.
PMID: 22578299 DOI: 10.1017/S0022215112000795

To illustrate a case of an iatrogenic mucosal tear in the trachea which caused a one-way valve effect, obstructing the airway and manifesting as post-extubation stridor.
Fulltext The prevalence and characteristics associated with mother-infant bed-sharing in Klang district, Malaysia

Tan KL, Ghani SN, Moy FM

Med J Malaysia, 2009 Dec;64(4):311-5.
PMID: 20954557 MyJurnal

This was a cross-sectional study to determine the prevalence and characteristics of mother-infant bed-sharing practice in Klang district, Malaysia. Data was collected by face-to-face interview using a structured questionnaire for a four month period in 2006. A total of 682 mother-infant pairs attending government health clinics were included in the study. Data regarding socio-demographic characteristics of the mothers, information on the infants, bed-sharing and breastfeeding practices were collected. The mean maternal age was 28.4 +/- 5.1 years while the mean infant gestational age was 38.8 +/- 1.8 weeks. The study showed the prevalence of bed-sharing was 73.5% (95% CI: 70.0, 76.7). In multivariate analysis; area of interview, maternal occupation, family income, breastfeeding and infant birth weight were associated with bed-sharing after adjusted for maternal ethnicity, age, marital status, educational level, parity, infant gender and infant gestational age. In conclusion, bed-sharing is a common practice in Klang district, Malaysia, not specific to ethnicity, but strongly associated with low family income and breastfeeding.
Fulltext Prevalence of onodi cells in Hospital Raja Permaisuri Bainun, Ipoh, Malaysia

Tan KL, Harvinder S

Med J Malaysia, 2010 Jun;65(2):101-2.
PMID: 23756790 MyJurnal

Onodi cell is a posterior ethmoid air cell that pneumatizes into the sphenoid sinus, It is an important entity for clinicians when performing endoscopic sinus surgery (EES) because it encroaches into the optic nerve and internal carotid artery. CT-scans are the road map for ESS to prevent damage to structures mentioned above. Its prevalence in Malaysia is unknown.
Fulltext Factors associated with exclusive breastfeeding among infants under six months of age in peninsular malaysia

Tan KL

Int Breastfeed J, 2011 Feb 02;6(1):2.
PMID: 21284889 DOI: 10.1186/1746-4358-6-2

BACKGROUND: Breastfeeding is accepted as the natural form of infant feeding. For mothers to be able to breastfeed exclusively to the recommended six months, it is important to understand the factors that influence exclusive breastfeeding. The aim of the study was to identify factors associated with exclusive breastfeeding in Peninsular Malaysia.
METHODS: This was a cross-sectional study involving 682 mother-infant pairs with infants up to six months attending maternal and child health section of the government health clinics in Klang, Malaysia. Data were collected by face-to-face interviews using a pre-tested structured questionnaire over 4 months in 2006. Data on breastfeeding were based on practice in the previous one month period. Logistic regression was used to assess the independent association between the independent variables and exclusive breastfeeding adjusting for infant age.
RESULTS: The prevalence of exclusive breastfeeding among mothers with infants aged between one and six months was 43.1% (95% CI: 39.4, 46.8). In the multivariate model exclusive breastfeeding was positively associated with rural residence, Malay mothers, non-working and non-smoking mothers, multiparous mothers, term infants, mothers with husbands who support breastfeeding and mothers who practice bed-sharing.
CONCLUSIONS: Interventions that seek to increase exclusive breastfeeding should focus on women who are at risk of early discontinuation of breastfeeding.
Bed sharing among mother-infant pairs in Klang district, Peninsular Malaysia and its relationship to breast-feeding

Tan KL

J Dev Behav Pediatr, 2009 Oct;30(5):420-5.
PMID: 19827222 DOI: 10.1097/DBP.0b013e3181ba083a

OBJECTIVE: The aim of the study was to determine the prevalence of mother-infant bed sharing in Klang district, Peninsular Malaysia and to identify factors associated with bed sharing.

METHOD: This was a cross-sectional study involving 682 mother-infant pairs with infants up to 6 months attending government clinics in Klang district, Peninsular Malaysia. Data were collected by face-to-face interview using a pretested structured questionnaire for a 4-month period in 2006. Data regarding maternal, paternal, obstetric, infant, occupancy, breast-feeding characteristics, and bed-sharing practice were collected. Data on bed sharing were based on practice in the past 1-month period. Bed sharing was defined as an infant sharing a bed with mother, and infant must be within arms reach from the mother, whereas a bed was defined as either a sleeping mattress placed on a bed frame or placed on the floor. The prevalence of bed sharing was estimated. Relationship and magnitude of association between independent factors and bed sharing were examined using odds ratio and 95% confidence interval. Logistic regression analysis was used to control for confounding factors.

RESULTS: The prevalence of bed sharing among mothers with infants aged between 1 and 6 months was 73.5% (95% confidence interval: 70.0-76.7). In multivariate analysis, urban/rural differences, mothers' ethnicity, occupation, family income, husbands' support on bed sharing, number of children younger than 12 years staying in the house, and breast-feeding were associated with bed sharing.

CONCLUSIONS: These factors need to be considered in analyzing the overall risks and benefits of bed sharing, paying attention to breastfeeding practices.
Fulltext Reassessment on the development of children with disability in Malaysia

Tan KL, Yadav H

Med J Malaysia, 2008 Mar;63(1):17-20.
PMID: 18935725 MyJurnal

This is a cohort study investigating the profile of children with disability registered with the primary health care clinics in Malaysia. The purpose of the study was to determine whether reassessment on the development of children with disability under rehabilitation should be done at three months interval or six months interval. Secondary data from the pilot project conducted by the Family Health Development Division, Ministry of Health Malaysia was used in this study. The study was carried out for seven months from 1st August 2004 until 28th February 2005. A total of 168 disabled children followed up for six months were selected in this study. Schedule of Growing Scale (SGS) II was the tool used for analysis. Results showed a statistically significant difference in the mean total SGS score at six months interval but not at three months interval. The result suggests that reassessment on children with Down Syndrome, Autism, Cerebral Palsy, mental retardation and delayed speech under rehabilitation should be carried out every six months while children with gross developmental delay and slow learner might need a longer interval for reassessment.
Fulltext Assessing the development of children with disability in Malaysia

Tan KL, Yadav H

Med J Malaysia, 2008 Aug;63(3):199-202.
PMID: 19248689 MyJurnal

This is a cross-sectional study investigating the profile of children with disability registered with the primary health care clinics in Malaysia. The purpose of the study was to assess the developmental stage of children with disability. Secondary data from the pilot project conducted by the Family Health Development Division, Ministry of Health Malaysia was used in this study. The study period was for six months from 1st August 2004 until 31st January 2005. A total of 900 disabled children were selected in this study. Schedule of Growing Scale (SGS) II was used for analysis. Results showed more boys than girls were affected with a ratio of 6:4. The mean total SGS score increases as the age of the child increased. The score was highest in delayed speech cases and lowest in cerebral palsy cases. The performance among children with delayed speech was the highest while children with cerebral palsy were the lowest. There was a statistically significant difference between the major ethnic groups in delayed speech and attention deficit hyperactive disorder.
Questionnaire: Denver Developmental Assessment Test II chart; DSST; Schedule of Growing Scale II; SGS
Fulltext Transcriptional profiling of the postnatal brain of the Ts1Cje mouse model of Down syndrome

Tan KL, Ling KH, Hewitt CA, Cheah PS, Simpson K, Gordon L, et al.

Genom Data, 2014 Dec;2:314-7.
PMID: 26484118 DOI: 10.1016/j.gdata.2014.09.009

The Ts1Cje mouse model of Down syndrome (DS) has partial trisomy of mouse chromosome 16 (MMU16), which is syntenic to human chromosome 21 (HSA21). It develops various neuropathological features demonstrated by DS patients such as reduced cerebellar volume [1] and altered hippocampus-dependent learning and memory [2,3]. To understand the global gene expression effect of the partially triplicated MMU16 segment on mouse brain development, we performed the spatiotemporal transcriptome analysis of Ts1Cje and disomic control cerebral cortex, cerebellum and hippocampus harvested at four developmental time-points: postnatal day (P)1, P15, P30 and P84. Here, we provide a detailed description of the experimental and analysis procedures of the microarray dataset, which has been deposited in the Gene Expression Omnibus (GSE49050) database.
Combine-ARMS: a rapid and cost-effective protocol for molecular characterization of beta-thalassemia in Malaysia

Tan KL, Tan JA, Wong YC, Wee YC, Thong MK, Yap SF

Genet. Test., 2001;5(1):17-22.
PMID: 11336396 DOI: 10.1089/109065701750168626

Beta-thalassemia major patients have chronic anemia and are dependent on blood transfusions to sustain life. Molecular characterization and prenatal diagnosis of beta3-thalassemia is essential in Malaysia because about 4.5% of the population are heterozygous carriers for beta-thalassemia. The high percentage of compound heterozygosity (47.62%) found in beta-thalassemia major patients in the Thalassaemia Registry, University of Malaya Medical Centre (UMMC), Malaysia, also supports a need for rapid, economical, and sensitive protocols for the detection of beta-thalassemia mutations. Molecular characterization of beta-thalassemia mutations in Malaysia is currently carried out using ARMS, which detects a single beta-thalassemia mutation per PCR reaction. We developed and evaluated Combine amplification refractory mutation system (C-ARMS) techniques for efficient molecular detection of two to three beta-thalassemia mutations in a single PCR reaction. Three C-ARMS protocols were evaluated and established for molecular characterization of common beta-thalassemia mutations in the Malay and Chinese ethnic groups in Malaysia. Two C-ARMS protocols (cd 41-42/IVSII #654 and -29/cd 71-72) detected the beta-thalassemia mutations in 74.98% of the Chinese patients studied. The CARMS for cd 41-42/IVSII #654 detected beta-thalassemia mutations in 72% of the Chinese families. C-ARMS for cd 41-42/IVSI #5/cd 17 allowed detection of beta-thalassemia mutations in 36.53% of beta-thalassemia in the Malay patients. C-ARMS for cd 41-42/IVSI #5/cd 17 detected beta-thalassemia in 45.54% of the Chinese patients. We conclude that C-ARMS with the ability to detect two to three mutations in a single reaction provides more rapid and cost-effective protocols for beta-thalassemia prenatal diagnosis and molecular analysis programs in Malaysia.

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