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Fulltext Genetic data for 15 STR loci in a Kadazan-Dusun population from East Malaysia

Kee BP, Lian LH, Lee PC, Lai TX, Chua KH

Genet. Mol. Res., 2011;10(2):739-43.
PMID: 21523653 DOI: 10.4238/vol10-2gmr1064

Allele frequencies of 15 short tandem repeat (STR) loci, namely D5S818, D7S820, D13S317, D16S539, TH01, TPOX, Penta D, Penta E, D3S1358, D8S1179, D18S51, D21S11, CSF1PO, vWA, and FGA, were determined for 154 individuals from the Kadazan-Dusun tribe, an indigenous population of East Malaysia. All loci were amplified by polymerase chain reaction, using the Powerplex 16 system. Alleles were typed using a gene analyzer and the Genemapper ID software. Various statistical parameters were calculated and the combined power of discrimination for the 15 loci in the population was calculated as 0.999999999999999. These loci are thus, informative and can be used effectively in forensic and genetic studies of this indigenous population.
Fulltext Ethnic differences in glycaemic control and complications: the adult diabetes control and management (ADCM), Malaysia

Chew BH, Mastura I, Lee PY, Wahyu TS, Cheong AT, Zaiton A

Med J Malaysia, 2011 Aug;66(3):244-8.
PMID: 22111449 MyJurnal

Ethnicity is an important factor in diabetes care. The understanding of its effect in this country may help to improve diabetes care, glycaemic control and diabetic complication rates. This study was to determine the diabetes control profile in relation to complication rates between the three main ethnics group in Malaysia.
Fulltext Daytime sleepiness and sleep quality among Malaysian medical students

Zailinawati AH, Teng CL, Chung YC, Teow TL, Lee PN, Jagmohni KS

Med J Malaysia, 2009 Jun;64(2):108-10.
PMID: 20058567 MyJurnal

Poor sleep quality and daytime somnolence is reported to be associated with cardiovascular events, road traffic accident, poor academic performance and psychological distress. Some studies documented that it is prevalent in most populations but its frequency among medical students has not been documented in Malaysia. This is a self-administered questionnaire survey of medical students from International Medical University, Malaysia. Daytime sleepiness of medical students was assessed using Epworth Sleepiness Scale (ESS). Student scoring ESS > 11 was regarded as having excessive daytime sleepiness. Psychological distress was measured using 12-item General Health Questionnaire (GHQ-12). A total of 799 medical students participated in this survey (response rate 69.5%). Daytime sleepiness occurred in 35.5%, psychological distress was present in 41.8% and 16.1% reported bad sleep quality. Daytime sleepiness was significantly more common among the clinical students, those with self-reported bad sleep quality and psychological distress; but unrelated to the number of hours sleep at night. We have documented high prevalence of daytime sleepiness, poor sleep quality and psychological distress. Higher frequency among clinical students and the significant relationship with psychological distress suggest possible link to the stressful clinical training.
The menopausal experience among indigenous women of Sarawak, Malaysia

Syed Alwi SA, Lee PY, Awi I, Mallik PS, Md Haizal MN

Climacteric, 2009 Dec;12(6):548-56.
PMID: 19905907 DOI: 10.3109/13697130902919519

OBJECTIVES:
To document the common menopausal symptoms and quality of life in indigenous women of Sarawak in Malaysia.

METHODS:
A face-to-face interview using the Menopause-specific Quality of Life questionnaire was conducted with 276 indigenous Sarawakian women aged 40-65 years to determine the mean age of menopause and common symptoms (divided into vasomotor, psychosocial, physical and sexual domains) associated with menopause.

RESULTS:
The mean age at menopause of postmenopausal women was 50.78 +/- 2.47 years (range 47.3-58.2 years). The most common symptoms reported were aching in muscles and joints (82.6%), lack of energy (77.5%) and low backache (77.2%). The typical menopausal symptoms of hot flushes, night sweats, sweating and vaginal dryness were experienced by 42.4%, 34.8%, 29.7% and 49.3%, respectively of the women studied. Perimenopausal women (n = 114) experienced the most physical and psychosocial symptoms, while postmenopausal women (n = 102) experienced most sexual symptoms. Perimenopausal and postmenopausal women were reported to suffer more than premenopausal women (p < 0.001) within the four domains of symptoms (vasomotor, psychosocial, physical and sexual).

CONCLUSIONS:
The menopausal symptoms in this study correspond to those in other studies on Asian women but the prevalence of typical and classical menopausal symptoms was lower compared to studies on Caucasian women. The perimenopausal women had the most significant decrease in quality of life, followed by postmenopausal women and premenopausal women. Vasomotor symptoms had a predominant influence on the quality of life.
Experience of hormone replacement therapy among women of Sarawak, Malaysia

Alwi SA, Rubiah ZS, Lee PY, Mallika PS, Haizal MN

Climacteric, 2010 Dec;13(6):553-60.
PMID: 19958163 DOI: 10.3109/13697130903470319

To determine the usage of hormone replacement therapy (HRT) and knowledge about HRT among women of Sarawak in Malaysia.
DNA metabarcoding of insects and allies: an evaluation of primers and pipelines

Brandon-Mong GJ, Gan HM, Sing KW, Lee PS, Lim PE, Wilson JJ

Bull. Entomol. Res., 2015 Dec;105(6):717-27.
PMID: 26344799 DOI: 10.1017/S0007485315000681

Metabarcoding, the coupling of DNA-based species identification and high-throughput sequencing, offers enormous promise for arthropod biodiversity studies but factors such as cost, speed and ease-of-use of bioinformatic pipelines, crucial for making the leapt from demonstration studies to a real-world application, have not yet been adequately addressed. Here, four published and one newly designed primer sets were tested across a diverse set of 80 arthropod species, representing 11 orders, to establish optimal protocols for Illumina-based metabarcoding of tropical Malaise trap samples. Two primer sets which showed the highest amplification success with individual specimen polymerase chain reaction (PCR, 98%) were used for bulk PCR and Illumina MiSeq sequencing. The sequencing outputs were subjected to both manual and simple metagenomics quality control and filtering pipelines. We obtained acceptable detection rates after bulk PCR and high-throughput sequencing (80-90% of input species) but analyses were complicated by putative heteroplasmic sequences and contamination. The manual pipeline produced similar or better outputs to the simple metagenomics pipeline (1.4 compared with 0.5 expected:unexpected Operational Taxonomic Units). Our study suggests that metabarcoding is slowly becoming as cheap, fast and easy as conventional DNA barcoding, and that Malaise trap metabarcoding may soon fulfill its potential, providing a thermometer for biodiversity.
Haemorrhagic fever with renal syndrome involving the liver

Chan YC, Wong TW, Yap EH, Tan HC, Lee HW, Chu YK, et al.

Med J Aust, 1987 Sep 07;147(5):248-9.
PMID: 2890086

A case of haemorrhagic fever with renal syndrome that originated in Malaysia is reported. The patient presented with clinical symptoms which were not typical of the disease as seen in endemic regions. Renal involvement, which is characteristic of haemorrhagic fever with renal syndrome, was mild, and the predominant symptom was a persistently marked elevation of serum transaminase levels that was suggestive of hepatitis. Liver involvement has not been described in the Asian form of haemorrhagic fever with renal syndrome. The patient developed a petechial skin rash and had severe thrombocytopenia. Serological confirmation of the diagnosis of haemorrhagic fever with renal syndrome was obtained by the demonstration of significant antibody rises to hantaviruses in the patient's acute- and convalescent-phase sera.
Fulltext Molecular testing of metastatic non-small cell lung cancer in the Asia-Pacific region

Liam CK, Stone E, Andarini S, Liam YS, Lam DC, Lee P

Respirology, 2020 07;25(7):685-687.
PMID: 32363718 DOI: 10.1111/resp.13833
Fulltext Does the attire of a primary care physician affect patients' perceptions and their levels of trust in the doctor?

Zahrina AZ, Haymond P, Rosanna P, Ho R, Rajini AR, Low BT, et al.

Malays Fam Physician, 2018;13(3):3-11.
PMID: 30800227

INTRODUCTION: With increasing evidence of disease transmission through doctors' white coats, many countries have discouraged doctors from wearing their white coats during consultations. However, there have been limited studies about patients' preferences concerning doctors' attire in Malaysia. This study, therefore, aimed to investigate patients' perceptions of doctors' attire before and after the disclosure of information about the infection risk associated with white coats.
METHOD: This cross-sectional study was conducted from 1st June 2015 to 31st July 2015 at three different primary care settings (government, private, and university primary care clinics) using a self-administered questionnaire. A 1:5 systematic random sampling method was employed to select the participants. The respondents were shown photographs of male and female doctors in four different types of attire and asked to rate their level of confidence and trust in and ease with doctors in each type of attire. Subsequently, the respondents were informed of the risk of white coat-carried infections, and their responses were reevaluated. Data analysis was completed using SPSS Version 24.0. Associations of categorical data were assessed using the Chi-Square test, while the overall change in perceptions after the disclosure of additional information was examined using the McNemar test. Results with p-values < 0.05 were considered statistically significant.
RESULTS: A total of 299 respondents completed the questionnaire. Most of the respondents had more confidence and trust in the male (62.5%) and female (59.2%) doctors wearing white coats. A high proportion of the respondents from the government clinic (70.5%) felt more confidence in male doctors dressed in white coats (p-value = 0.018). In terms of ethnicity, male doctors in white coats were highly favored by Malays (61.0%), followed by the Chinese (41.2%) and Indians (38%) (p = 0.005). A similar preference was observed for the female doctors, whereby the highest number of Malays (60.3%), followed by the Chinese (41.2%) and Indians (40.0%) (p = 0.006), had a preference for female doctors wearing white coats. Only 21.9% of the initial 71.9% of patients who preferred white coats maintained their preference (p < 0.001) after learning of the risk of microbial contamination associated with white coats.
CONCLUSION: Most patients preferred that primary care doctors wear white coats. Nevertheless, that perception changed after they were informed about the infection risk associated with white coats.
Fulltext Health literacy levels and its determinants among people with asthma in Malaysian primary healthcare settings: a cross-sectional study

Salim H, Shariff Ghazali S, Lee PY, Cheong AT, Harrun NH, Mohamed Isa S, et al.

BMC Public Health, 2021 06 22;21(1):1186.
PMID: 34158013 DOI: 10.1186/s12889-021-11194-w

BACKGROUND: Limited health literacy among people with asthma is associated with poor adherence to self-management activities, thus poor clinical outcomes. This study aimed to determine the prevalence of health literacy level and its determinants among people with asthma in the Malaysian primary healthcare settings.
METHOD: A cross-sectional study was conducted among participants aged > 18 years with asthma who attended five primary health clinics in Malaysia. Systematic random sampling was employed with a final sample of 550 participants. The questionnaires included the validated Malay version of Health Literacy Scale (HLS) and asthma control questionnaire (ACQ). Statistical analysis was done using SPSS version 25. Multiple logistic regression was performed to determine the determinants for limited health literacy.
RESULTS: The participants mean age of the participants was 48 (SD15.4) years. Most of the participants were women (64%) and of Malay ethnicity (51.1%). Nearly half had a secondary level of education, n = 112, (45.8%). Mean duration of asthma diagnosis is 20.6 (SD 15.9) years. More than half (62.5%) had a family history of asthma. About half (50.9%) had uncontrolled asthma, with 87.3% self-rated themselves as having controlled asthma. About a third (29.1%) received education on of asthma action plan, but only 7.1% of these owned a written version an asthma action plan. Limited health literacy accounts for 60.5% of the participants. The significant determinants for limited health literacy included lower educational attainment (p p = 0.034), p = 0.031) and not receiving asthma action plan education (p
Fulltext Anti-malarial and anti-inflammatory effects of Gleichenia truncata mediated through inhibition of GSK3β

Suhaini S, Liew SZ, Norhaniza J, Lee PC, Jualang G, Embi N, et al.

Trop Biomed, 2015 Sep;32(3):419-33.
PMID: 26695202 MyJurnal

Gleichenia truncata is a highland fern from the Gleicheniaceae family known for its traditional use among indigenous communities in Asia to treat fever. The scientific basis of its effect has yet to be documented. A yeast-based kinase assay conducted in our laboratory revealed that crude methanolic extract (CME) of G. truncata exhibited glycogen synthase kinase-3 (GSK3)-inhibitory activity. GSK3β is now recognized to have a pivotal role in the regulation of inflammatory response during bacterial infections. We have also previously shown that lithium chloride (LiCl), a GSK3 inhibitor suppressed development of Plasmodium berghei in a murine model of malarial infection. The present study is aimed at evaluating G. truncata for its anti-malarial and anti-inflammatory effects using in vivo malarial and melioidosis infection models respectively. In a four-day suppressive test, intraperitoneal injections of up to 250 mg/kg body weight (bw) G. truncata CME into P.berghei-infected mice suppressed parasitaemia development by >60%. Intraperitoneal administration of 150 mg/kg bw G. truncata CME into Burkholderia pseudomallei-infected mice improved survivability by 44%. G. truncata CME lowered levels of pro-inflammatory cytokines (TNF-α, IFN-γ) in serum and organs of B. pseudomallei-infected mice. In both infections, increased phosphorylations (Ser9) of GSK3β were detected in organ samples of animals administered with G. truncata CME compared to controls. Taken together, results from this study strongly suggest that the anti-malarial and anti-inflammatory effects elicited by G. truncata in part were mediated through inhibition of GSK3β. The findings provide scientific basis for the ethnomedicinal use of this fern to treat inflammation-associated symptoms.
Plasmodium falciparum protein kinase as a potential therapeutic target for antimalarial drugs development

Mahmud F, Lee PC, Abdul Wahab H, Mustaffa KMF, Leow CH, Azhar R, et al.

Trop Biomed, 2020 Sep 01;37(3):822-841.
PMID: 33612795 DOI: 10.47665/tb.37.3.822

Malaria is one of the most dangerous infectious diseases due to its high infection and mortality rates, especially in the tropical belt. Plasmodium falciparum (P. falciparum), the most virulent malaria parasite in humans, was recently reported to develop resistance against the final efficient antimalarial drug, artemisinin. Little is known about the resistance mechanisms, which further complicates the problem as a proper counteraction is unable to be taken. Hence, the understanding of drug mode of action and its molecular target is valuable knowledge that needs to be considered to develop the next generation of antimalarial drugs. P. falciparum protein kinase (Pf PK) is an attractive target for antimalarial chemotherapy due to its vital roles in all P. falciparum life stages. Moreover, overall structural differences and the presence of unique Pf PKs that are absent in human kinome, suggesting specific inhibition of Pf PK without affecting human cells is achievable. To date, at least 86 eukaryotic protein kinases have been identified in P. falciparum kinome, by which less than 40 were validated as potential targets at the erythrocytes stage. In this review, recent progress of the furthest validated Pf PKs; Pf Nek-1, Pf CDPK1, Pf CDPK4, Pf PKG, and Pf CLK-3 will be briefly discussed.
Fulltext Awareness of colorectal cancer among the urban population in the Klang Valley

Sindhu CK, Nijar AK, Leong PY, Li ZQ, Hong CY, Malar L, et al.

Malays Fam Physician, 2019;14(3):18-27.
PMID: 32175037

Background: Colorectal cancer (CRC) is the second most common cancer in Malaysia. Awareness of risk factors, symptoms and warning signs of CRC will help in early detection. This paper presents the level of CRC awareness among the urban population in Malaysia.
Method: A cross-sectional study was conducted from November 2015 till December 2016 at three government clinics in the Klang Valley. The validated Bowel Cancer Awareness Measure questionnaire in both English and Malay was used. The mean knowledge scores for the warning signs and risk factors of CRC in different socio-demographic groups were compared using ANOVA in SPSS version 23. Statistical significance was set at p<0.05 and a 95% confidence level.
Results: Of the 426 respondents, 29.1% were unable to recall the warning signs and symptoms of CRC. Average recall was less than two warning signs and symptoms (mean 1.62, SD 1.33). The mean total knowledge score for CRC was 9.91 (SD 4.78), with a mean knowledge scores for warning signs and risk factors at 5.27 (SD 2.74) and 4.64 (SD 2.78), respectively. Respondents with a higher level of education were found to have higher level of knowledge regarding the warning signs of CRC. There was a significant positive association between knowledge score for warning signs and level of confidence in detecting warning signs. Regarding the total knowledge score for CRC, 3.3% of respondents scored zero. For warning signs and risk factors, 8.2% and 8.5% of respondents had zero knowledge scores, respectively.
Conclusions: Generally, awareness of CRC is poor among the urban population of Klang Valley. Greater education and more confidence in detecting warning signs are significantly associated with better knowledge of warning signs. CRC awareness programs should be increased to improve awareness.
Bioinformatics characterization of Plasmodium knowlesi apical membrane antigen 1 (PkAMA1) for multi-epitope vaccine design

Azazi A, Haron FN, Chua KH, Lim YAL, Lee PC, Chew CH

Trop Biomed, 2021 Sep 01;38(3):265-275.
PMID: 34362869 DOI: 10.47665/tb.38.3.067

Malaria caused by Plasmodium knowlesi species has become a public health concern, especially in Malaysia. Plasmodium knowlesi parasite which originates from the macaque species, infects human through the bite of the Anopheles mosquitoes. Research on malaria vaccine has been a continuous effort to eradicate the malaria infection, yet there is no vaccine against P. knowlesi malaria to date. Apical membrane antigen 1 (AMA1) is a unique surface protein of all apicomplexan parasites that plays a crucial role in parasite-host cell invasion and thus has been a long-standing malaria vaccine candidate. The selection of protective epitopes in silico has led to significant advances in the design of the vaccine. The present study aimed to employ bioinformatics tools to predict the potential immunogenic B- and T-cell epitopes in designing malaria vaccine targeting P. knowlesi AMA1 (PkAMA1). B-cell epitopes were predicted using four bioinformatics tools, i.e., BepiPred, ABCpred, BcePred, and IEDB servers whereas T-cell epitopes were predicted using two bioinformatics servers, i.e., NetMHCpan4.1 and NetMHCIIpan-4.0 targeting human major histocompatibility complex (MHC) class I and class II molecules, respectively. The antigenicity of the selected epitopes computed by both B- and T-cell predictors were further analyzed using the VaxiJen server. The results demonstrated that PkAMA1 protein encompasses multi antigenic regions that have the potential for the development of multi-epitope vaccine. Two B- and T-cell epitopes consensus regions, i.e., NSGIRIDLGEDAEVGNSKYRIPAGKCP (codons 28-54) and KTHAASFVIAEDQNTSY RHPAVYDEKNKT (codons 122-150) at domain I (DI) of PkAMA1 were reported. Advancement of bioinformatics in characterization of the target protein may facilitate vaccine development especially in vaccine design which is costly and cumbersome process. Thus, comprehensive B-cell and T-cell epitope prediction of PkAMA1 offers a promising pipeline for the development and design of multi-epitope vaccine against P. knowlesi.
Performance evaluation of two multiplex qualitative RT-PCR assays for detection of respiratory infection in paediatric population

Ali U, Zainal M, Zainol Z, Tai CW, Tang SF, Lee PC, et al.

Malays J Pathol, 2023 Aug;45(2):215-227.
PMID: 37658531

INTRODUCTION: Acute respiratory infection (ARI) contributes to significant mortality and morbidity worldwide and is usually caused by a wide range of respiratory pathogens. This study aims to describe the performance of QIAstat-Dx® Respiratory Panel V2 (RP) and RespiFinder® 2SMART assays for respiratory pathogens detection.
MATERIALS AND METHODS: A total of 110 nasopharyngeal swabs (NPS) were collected from children aged one month to 12 years old who were admitted with ARI in UKMMC during a one-year period. The two qPCR assays were conducted in parallel.
RESULTS: Ninety-seven samples (88.2%) were positive by QIAstat-Dx RP and 86 (78.2%) by RespiFinder assay. The overall agreement on both assays was substantial (kappa value: 0.769) with excellent concordance rate of 96.95%. Using both assays, hRV/EV, INF A/H1N1 and RSV were the most common pathogens detected. Influenza A/H1N1 infection was significantly seen higher in older children (age group > 60 months old) (53.3%, p-value < 0.05). Meanwhile, RSV and hRV/EV infection were seen among below one-year-old children. Co-infections by two to four pathogens were detected in 17 (17.5%) samples by QIAstat-Dx RP and 12 (14%) samples by RespiFinder, mainly involving hRV/EV. Bacterial detection was observed only in 5 (4.5%) and 6 (5.4%) samples by QIAstat-Dx RP and RespiFinder, respectively, with Mycoplasma pneumoniae the most common detected.
CONCLUSION: The overall performance of the two qPCR assays was comparable and showed excellent agreement. Both detected various clinically important respiratory pathogens in a single test with simultaneous multiple infection detection. The use of qPCR as a routine diagnostic test can improve diagnosis and management.
Fulltext Type 2 Diabetes Mellitus Patient Profiles, Diseases Control and Complications at Four Public Health Facilities- A Cross-sectional Study based on the Adult Diabetes Control and Management (ADCM) Registry 2009

Chew BH, Shariff-Ghazali S, Lee PY, Cheong AT, Mastura I, Haniff J, et al.

Med J Malaysia, 2013 Oct;68(5):397-404.
PMID: 24632869 MyJurnal

INTRODUCTION: Diabetes care at different healthcare facilities varied from significantly better at one setting to no difference amongst them. We examined type 2 diabetes patient profiles, disease control and complication rates at four public health facilities in Malaysia.
MATERIALS AND METHODS: This study analyzed data from diabetes registry database, the Adult Diabetes Control and Management (ADCM). The four public health facilities were hospital with specialist (HS), hospital without specialist (HNS), health clinics with family physicians (CS) and health clinic without doctor (CND). Independent risk factors were identified using multivariate regression analyses.
RESULTS: The means age and duration of diabetes in years were significantly older and longer in HS (ANOVA, p< 0.0001). There were significantly more patients on insulin (31.2%), anti-hypertensives (80.1%), statins (68.1%) and antiplatelets (51.2%) in HS. Patients at HS had significantly lower means BMI, HbA1c, LDL-C and higher mean HDL-C. A significant larger proportion of type 2 diabetes patients at HS had diabetes-related complications (2-5 times). Compared to the HS, the CS was more likely to achieve HbA1c ≤ 6.5% (adjusted OR 1.2) and BP target < 130/80 mmHg (adjusted OR 1.4), the HNS was 3.4 times more likely not achieving LDL-C target < 2.6 mmol/L.
CONCLUSION: Public hospitals with specialists in Malaysia were treating older male Chinese type 2 diabetes patients with more complications, and prescribed more medications. Patients attending these hospitals achieved better LDL-C target but poorer in attaining BP and lower HbA1c targets as compared to public health clinics with doctors and family physicians.
Bioefficacy Evaluation of Commercial Mosquito Coils Containing Metofluthrin, d-Allethrin, d-Trans Allethrin, and Prallethrin Against Aedes albopictus (Diptera: Culicidae) in Malaysia

Chen CD, Chin AC, Lau KW, Low VL, Lee HL, Lee PKY, et al.

J Med Entomol, 2018 10 25;55(6):1651-1655.
PMID: 30085203 DOI: 10.1093/jme/tjy130

The bioefficacy of commercial mosquito coils containing four different active ingredients, namely metofluthrin, d-allethrin, d-trans allethrin, and prallethrin against Aedes albopictus (Skuse) (Diptera: Culicidae) from 10 states in Malaysia, was evaluated using the glass chamber method. In this study, Ae. albopictus exhibited various knockdown rates (50% knockdown time, KT50), ranging from 2.50 to 5.00 min, 2.50 to 7.00 min, 3.00 to 8.00 min, and 5.00 to 17.00 min for metofluthrin, d-trans allethrin, d-allethrin, and prallethrin, respectively. Overall, all strains of Ae. albopictus were most susceptible to metofluthrin, with mortality rates >80%. On the other hand, mortality rates ranging from 5.0 to 100% were observed from all populations exposed to d-trans allethrin, d-allethrin, and prallethrin. In addition, significant correlations between KT50 of metofluthrin and d-allethrin (r = 0.758, P = 0.011), metofluthrin and prallethrin (r = 0.676, P = 0.032), d-allethrin and d-trans allethrin (r = 0.832, P = 0.003), d-allethrin and prallethrin (r = 0.921, P = 0.000), and d-trans allethrin with prallethrin (r = 0.941, P = 0.000) were detected, suggesting some levels of cross-resistance within the pyrethroid insecticides. This study demonstrated that metofluthrin can induce high insecticidal activity in Ae. albopictus in Malaysia, followed by d-trans allethrin, d-allethrin, and prallethrin.
Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency

Yang W, Lee PP, Thong MK, Ramanujam TM, Shanmugam A, Koh MT, et al.

Clin Genet, 2015 Dec;88(6):542-9.
PMID: 25534311 DOI: 10.1111/cge.12553

Familial multiple intestinal atresias is an autosomal recessive disease with or without combined immunodeficiency. In the last year, several reports have described mutations in the gene TTC7A as causal to the disease in different populations. However, exact correlation between different genotypes and various phenotypes are not clear. In this study, we report identification of novel compound heterozygous mutations in TTC7A gene in a Malay girl with familial multiple intestinal atresias and severe combined immunodeficiency (MIA-SCID) by whole exome sequencing. We found two mutations in TTC7A: one that destroyed a putative splicing acceptor at the junction of intron 17/exon 18 and one that introduced a stop codon that would truncate the last two amino acids of the encoded protein. Reviewing the recent reports on TTC7A mutations reveals correlation between the position and nature of the mutations with patient survival and clinical manifestations. Examination of public databases also suggests carrier status for healthy individuals, making a case for population screening on this gene, especially in populations with suspected frequent founder mutations.
High incidence of Plasmodium knowlesi malaria compared to other human malaria species in several hospitals in Malaysia

Lai MY, Rafieqin N, Lee PYL, Amir Rawa MS, Dzul S, Yahaya N, et al.

Trop Biomed, 2021 Sep 01;38(3):248-253.
PMID: 34362867 DOI: 10.47665/tb.38.3.065

Through the regional control programme, Malaysia has been successfully reducing the incidence of Plasmodium falciparum and Plasmodium vivax infections. However, the incidence of zoonotic malaria Plasmodium knowlesi infection is increasing and now has been the major cause of malaria in Malaysia especially Malaysian Borneo. The emergence of knowlesi infection has threatened the malaria elimination programme which the government aims to reduce the overall malaria infections by 2020. Unlike other benign human Plasmodium spp., P. knowlesi can cause fatal infections. The aim of this study was to determine the incidence and distribution of five human malaria parasites including P. knowlesi in Peninsular Malaysia and Malaysian Borneo. A total of 112 blood samples were collected from seven states and district hospitals in Peninsular Malaysia and Malaysian Borneo from year 2015 to 2016. The samples were examined by microscopy and further confirmed by nested PCR assay targeting 18S rRNA gene of Plasmodium spp. Following the nested PCR assays, a total of 54 (48.2%) samples were positive for P. knowlesi infections, 12 (10.7%) cases were positive for P. vivax infections, followed by 7 (6.3%) cases of P. falciparum and 4 (3.5%) cases of P. malariae. There were 3 cases (2.7%) of mixed infections (P. knowlesi/P. vivax). However, no cases were identified as P. ovale. A total of 32 (28.6%) cases were found as negative infections. LoopMediated Isothermal Amplification Assay (LAMP) was performed to confirm inconclusive results produced by microscopy and nested PCR. P. knowlesi showed the highest prevalence in Sarawak (n= 30), Sabah (n=13), Pulau Pinang (n=5) and Pahang (n=6). PCR and LAMP was not able to detect a large number of microscopy positive samples due to DNA degradation during storage and shipping. Among all the states involved in this study, the highest prevalence of P. knowlesi infection was found in Sabah and Sarawak.
Effectiveness of Decision Aid in Men with Localized Prostate Cancer: a Multicenter Randomized Controlled Trial at Tertiary Referral Hospitals in an Asia Pacific Country

Jalil NB, Lee PY, Nor Afiah MZ, Abdullah KL, Azizi FNSM, Rassip NNSA, et al.

J Cancer Educ, 2022 Feb;37(1):169-178.
PMID: 32564251 DOI: 10.1007/s13187-020-01801-6

There are several treatment options for localized prostate cancer with very similar outcome but vary in terms of technique and side effect profiles and risks. Considering the potential difficulty in choosing the best treatment, a patient decision aid (PDA) is used to help patients in their decision-making process. However, the use and applicability of PDA in a country in Asia Pacific region like Malaysia is still unknown. This study aims to evaluate the effectiveness of a PDA modified to the local context in improving patients' knowledge, decisional conflict, and preparation for decision making among men with localized prostate cancer. Sixty patients with localized prostate cancer were randomly assigned to control and intervention groups. A self-administered questionnaire, which evaluate the knowledge on prostate cancer (23 items), decisional conflict (10 items) and preparation for decision-making (10 items), was given to all participants at pre- and post-intervention. Data were analyzed using independent T test and paired T test. The intervention group showed significant improvement in knowledge (p = 0.02) and decisional conflict (p = 0.01) from baseline. However, when compared between the control and intervention groups, there were no significant differences at baseline and post-intervention on knowledge, decisional conflict and preparation for decision-making. A PDA on treatment options of localized prostate cancer modified to the local context in an Asia Pacific country improved patients' knowledge and decisional conflict but did not have significant impact on the preparation for decision-making. The study was also registered under the Australian New Zealand Clinical Trials Registry (ANZCTR), ACTRN12614000668606 registered on 25/06/2014.

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