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Simple high-performance liquid chromatographic method for the determination of tocotrienols in human plasma

Yap SP, Julianto T, Wong JW, Yuen KH

J Chromatogr B Biomed Sci Appl, 1999 Dec 10;735(2):279-83.
PMID: 10670741

A simple high-performance liquid chromatographic method using fluorescence detection was developed for the determination of vitamin E especially delta-, gamma- and alpha-tocotrienols in human plasma. The method entailed direct injection of plasma sample after deproteinization using a 3:2 mixture of acetonitrile-tetrahydrofuran. The mobile phase comprised 0.5% (v/v) of distilled water in methanol. Analyses were run at a flow-rate of 1.5 ml/min with the detector operating at an excitation wavelength of 296 nm and emission wavelength of 330 nm. This method is specific and sensitive, with a quantification limit of approximately 40, 34 and 16 ng/ml for alpha-, gamma- and delta-tocotrienol, respectively. The mean absolute recovery values were about 98% while the within-day and between-day relative standard deviation and percent error values of the assay method were all less than 12.0% for alpha-, gamma- and delta-tocotrienol. The calibration curve was linear over a concentration range of 40-2500, 30-4000 and 16-1000 ng/ml for alpha-, gamma- and delta-tocotrienol, respectively. Application of the method in a bioavailability study for determination of the above compounds was also demonstrated.
Squamous cell carcinoma antigen as an adjunct tumour marker in primary carcinoma of the lung

Cheah PL, Liam CK, Yap SF, Looi LM

J Clin Pathol, 1994 Jun;47(6):535-7.
PMID: 8063936

AIMS: To determine (1) the detection rate of primary carcinoma of the lung by serological assay of CEA (carcinoembryonic antigen); and (2) whether addition of seroassay of squamous cell carcinoma related antigen before treatment improves detection sensitivity.
METHODS: A prospective study spanning 27 months was conducted at the University Hospital, Kuala Lumpur. Serum CEA (Abbott IMx) and serum squamous cell carcinoma antigen (Abbott IMx) from patients clinically suspected of having primary carcinoma of the lung, were assayed using the microparticle enzyme immunoassay method.
RESULTS: Thirty seven cases of histologically confirmed primary lung carcinoma were studied. Of these, 17 were squamous cell carcinomas, 10 adenocarcinomas, nine small cell carcinomas, and one large cell carcinoma. The patients' ages ranged from 34-82 years. The male:female ratio was 3.6:1. Squamous cell carcinoma antigen was raised above the cutoff value of 1.5 ng/ml in 94.1% of squamous cell carcinomas, 20.0% of adenocarcinomas, and 11.1% of small cell carcinomas. By comparison, CEA was raised above the cutoff value of 3.0 ng/ml in 70.6% of squamous cell carcinomas, 77.8% of small cell carcinomas, and 100% of adenocarcinomas. CEA and squamous cell carcinoma antigen were not raised in the patient with large cell carcinoma and in 14 healthy volunteers. None of 15 patients with a variety of benign lung diseases showed a rise of CEA, while two patients--a 25 year old Indian woman with pneumonia and a 64 year old Malay man with bronchial asthma--had raised squamous cell carcinoma antigen values above the cutoff. Serum CEA and squamous cell carcinoma antigen values did not seem to correlate with stage or degree of differentiation of the tumours.
CONCLUSIONS: The findings suggest that CEA is a good general marker for carcinoma, particularly adenocarcinoma. In contrast, squamous cell carcinoma antigen is more specific for squamous carcinoma.
A computational model to investigate the influence of electrode lengths on the single probe bipolar radiofrequency ablation of the liver

Cheong JKK, Yap S, Ooi ET, Ooi EH

Comput Methods Programs Biomed, 2019 Jul;176:17-32.
PMID: 31200904 DOI: 10.1016/j.cmpb.2019.04.028

BACKGROUND AND OBJECTIVES: Recently, there have been calls for RFA to be implemented in the bipolar mode for cancer treatment due to the benefits it offers over the monopolar mode. These include the ability to prevent skin burns at the grounding pad and to avoid tumour track seeding. The usage of bipolar RFA in clinical practice remains uncommon however, as not many research studies have been carried out on bipolar RFA. As such, there is still uncertainty in understanding the effects of the different RF probe configurations on the treatment outcome of RFA. This paper demonstrates that the electrode lengths have a strong influence on the mechanics of bipolar RFA. The information obtained here may lead to further optimization of the system for subsequent uses in the hospitals.
METHODS: A 2D model in the axisymmetric coordinates was developed to simulate the electro-thermophysiological responses of the tissue during a single probe bipolar RFA. Two different probe configurations were considered, namely the configuration where the active electrode is longer than the ground and the configuration where the ground electrode is longer than the active. The mathematical model was first verified with an existing experimental study found in the literature.
RESULTS: Results from the simulations showed that heating is confined only to the region around the shorter electrode, regardless of whether the shorter electrode is the active or the ground. Consequently, thermal coagulation also occurs in the region surrounding the shorter electrode. This opened up the possibility for a better customized treatment through the development of RF probes with adjustable electrode lengths.
CONCLUSIONS: The electrode length was found to play a significant role on the outcome of single probe bipolar RFA. In particular, the length of the shorter electrode becomes the limiting factor that influences the mechanics of single probe bipolar RFA. Results from this study can be used to further develop and optimize bipolar RFA as an effective and reliable cancer treatment technique.
Hepatitis B infection among Chinese STD patients in Kuala Lumpur, Malaysia

Gan CY, Yap SF, Ngeow YF, Wong HC

Sex Transm Dis, 1991 4 1;18(2):84-8.
PMID: 1862464 DOI: 10.1097/00007435-199118020-00006

This study documents the prevalence of Hepatitis B serological markers among STD patients who have had multiple sexual partners in Kuala Lumpur, Malaysia, and compares the rates with those of a sample of the population with single or no sexual partners. A total of 336 Chinese STD patients (multiple partners group) and 234 Chinese control subjects (non-multiple partner group) were screened. Those with a history of blood transfusion or parenteral drug abuse had been excluded from the study, and all study subjects were heterosexuals. The overall carrier rate was 9.2% for the multiple partner group (MP group) and 6.8% for the non-multiple partner group (NMP group). Infection rates were 64.3% for the MP-group and 38.9% for the NMP group. After adjustments for age and sex, there was no significant difference in carrier rates between the two groups, but infection rates were significantly different with the MP group, being 3.2 times more likely to acquire infection than the NMP group. The study concludes that in heterosexuals, those with multiple sexual partners have increased chances of acquiring HBV infection.
Association of dengue serotypes and its complications: a retrospective cohort study

Lau Q, Lee ZM, Shunmugarajoo A, Tan CY, Azmel A, Yap SY

Med J Malaysia, 2023 May;78(3):372-378.
PMID: 37271848

INTRODUCTION: Dengue fever is an arthropod-borne disease and has a wide clinical spectrum. It is hypothesised that dengue serotypes could be a possible factor for such phenomena and therefore be a possible predictor for the development of severe dengue.
METHOD: A retrospective cohort study was done to explore the association between dengue serotypes and the various complications. All patients who underwent dengue serotyping from 1st January to 31st December 2018 in Tengku Ampuan Rahimah Hospital were selected. Serotypes were randomly done for admitted dengue patients. Notes were then retrieved for data collection. Secondary outcomes like length of stay and highest lactate level were also studied. Data analysis was done using SPSS version 20.
RESULT: A total of 193 patient records were included in the analysis. Chi-square test for independence indicated that the proportion of dengue complications between male and female were significantly different (χ2(1) = 11.37, p = 0.001). Dengue serotype was not associated with the development of dengue complications, total number of dengue complications, length of admission, lactate level and survival among the serotypes. Results of the binary logistic regression showed that men have thrice the odds (AOR = 3.3, 95% CI: 1.6 6.7) for developing dengue complications. One patient was found to be co-infected with serotype 2 and 3.
CONCLUSION: Our study did not reveal any association between the different dengue virus serotypes and its complications. Therefore, all dengue infection should be approached with equal meticulousness. There are possibilities that apart from serotype, dengue genotype and lineage would determine clinical outcome. However, more studies are required to study such associations.
Fc gamma receptor IIIB-NA gene frequencies in patients with systemic lupus erythematosus and healthy individuals of Malay and Chinese ethnicity

Yap SN, Phipps ME, Manivasagar M, Bosco JJ

Immunol Lett, 1999 Jun 01;68(2-3):295-300.
PMID: 10424435

The neutrophil antigen (NA)1 and 2 is coded by two recognized allelic forms of Fc gamma receptor IIIB (FcgammaRIIIB). FcgammaRIIIb is a low affinity receptor and preferentially removes immune complexes from the circulation. Systemic lupus erythematosus (SLE) is an autoimmune and polygenic disorder characterized by accumulation of autoimmune complexes. The majority of SLE patients in our medical center are of Chinese ethnicity, followed by Malay and Indian. Recently, studies have focussed on the Fc receptors in different ethnic groups and their relation to SLE. We chose to study the gene distribution of this receptor in the Chinese and Malays population in Malaysia. We designed a polymerase chain reaction allele specific primers (PCR-ASP) method to distinguish the two allelic forms. Genomic DNA was isolated from the peripheral blood of 183 Chinese and 55 Malays SLE patients as well as 100 Chinese and 50 Malays healthy controls. Genotyping of Chinese SLE patients revealed that the gene frequencies for FcgammaRIIIB-NA1 and FcgammaRIIIB-NA2 were 0.648 and 0.347, while in the ethnically matched healthy controls they were 0.68 and 0.32, respectively. One out of the 183 Chinese SLE patients was identified as a NA-null due to the absence of PCR product for both alleles. The FcgammaRIIIB-NA1 and FcgammaRIIIB-NA2 allele frequencies for both the Malays SLE and healthy controls were 0.62 and 0.38.
Fulltext Sexual size dimorphism and male reproductive traits vary across populations of a tropical rainforest dung beetle species (Onthophagus babirussa)

Toh KX, Yap S, Goh TG, Puniamoorthy N

Ecol Evol, 2022 Sep;12(9):e9279.
PMID: 36177114 DOI: 10.1002/ece3.9279

Sexual size dimorphism (SSD) arises when natural selection and sexual selection act differently on males and females. Male-biased SSD is rarer in insects and usually indicates strong sexual selection pressure on male body size in a species. Patterns of SSD can also vary between populations of species that are exposed to different environmental conditions, such as differing resource availability and diversity. Here, we investigate intraspecific variation in SSD as well as relative investment in precopulatory (horn length) and postcopulatory traits (sperm length and testes weight) in a tropical rainforest dung beetle Onthophagus babirussa across Singapore and Peninsular Malaysia. Overall, three out of four populations displayed significant male-biased SSD, and SSD was greater in populations with smaller overall body size. Average male body size was similar across all populations while female body size was significantly smaller in Singapore, suggesting that the pronounced SSD may also be due to stronger sexual selection on male body size in Singapore populations. All populations showed significant investment in horns as a weapon likely used in male-male competition, while postcopulatory traits showed no clear scaling relationship with body size, suggesting a higher priority on precopulatory sexual traits in the mating system of this species.
The frequency of pre-core gene mutations in chronic hepatitis B infection: a study of Malaysian subjects

Yap SF, Wong PW, Chen YC, Rosmawati M

Southeast Asian J Trop Med Public Health, 2002 Mar;33(1):102-9.
PMID: 12118437

A retrospective study was carried out to determine the frequency of the pre-core stop codon mutant virus in a group of chronic hepatitis B carriers: 81 cases were considered [33 hepatits B e antigen (HBe) positive and 48 HBe negative]. All of the HBe positive cases had detectable viral DNA by hybridization analysis; in the case of the HBe negative cases, one third had detectable viral DNA by hybridization analysis and two thirds had HBV DNA detectable by polymerase chain reaction (PCR) amplification. Pre-core stop codon mutant detection was carried out on all specimens using allele-specific oligonucleotide hybridization following PCR amplification of the target sequence. The pre-core mutant was detected in 13/33 (39.4%) of HBe positive cases and in 32/48 (66.7%) of HBe negative cases. Sequence analysis was carried out on 8 of the 16 HBe negative specimens that did not carry the pre-core mutant virus to determine the molecular basis for the HBe minus phenotype in these cases: the 1762/1764 TA paired mutation in the second AT rich region of the core promoter was detected in five cases; a start codon mutation was detected in one case. The predominant mutation resulting in the HBe minus phenotype in our isolates was the 1896A pre-core ("pre-core stop codon") mutation; other mutations responsible for the phenotype included the core promoter paired mutation and pre-core start codon mutation. In view of the high frequency of the pre-core mutant virus, sequence analysis was performed to determine the virus genotype on the basis of the nucleotide sequence of codon 15. The sequences of 21 wild type virus (14 HBe positive and 7 HBe negative cases) were examined: 15 were found to be codon 15 CCT variants (71.4%); the frequency in the HBe positive group was 12/14 (85.7%), while that in the HBe negative group was 3/7 (42.9%). The high frequency of the codon 15 CCT variant in association with the frequent occurrence of the pre-core mutant in our isolates concurs with the results of other studies.
Fulltext Complete Genome Sequence Analysis and Characterization of Selected Iron Regulation Genes of Pasteurella Multocida Serotype A Strain PMTB2.1

Jabeen S, Yap HY, Abdullah FFJ, Zakaria Z, Isa NM, Tan YC, et al.

Genes (Basel), 2019 01 25;10(2).
PMID: 30691021 DOI: 10.3390/genes10020081

Although more than 100 genome sequences of Pasteurella multocida are available, comprehensive and complete genome sequence analysis is limited. This study describes the analysis of complete genome sequence and pathogenomics of P. multocida strain PMTB2.1. The genome of PMTB2.1 has 2176 genes with more than 40 coding sequences associated with iron regulation and 140 virulence genes including the complete tad locus. The tad locus includes several previously uncharacterized genes such as flp2, rcpC and tadV genes. A transposable phage resembling to Mu phages was identified in P. multocida that has not been identified in any other serotype yet. The multi-locus sequence typing analysis assigned the PMTB2.1 genome sequence as type ST101, while the comparative genome analysis showed that PMTB2.1 is closely related to other P. multocida strains with the genomic distance of less than 0.13. The expression profiling of iron regulating-genes of PMTB2.1 was characterized under iron-limited environment. Results showed significant changes in the expression profiles of iron-regulating genes (p < 0.05) whereas the highest expression of fecE gene (281 fold) at 30 min suggests utilization of the outer-membrane proteins system in iron acquisition at an early stage of growth. This study showed the phylogenomic relatedness of P. multocida and improved annotation of important genes and functional characterization of iron-regulating genes of importance to the bacterial growth.
Assessment of polymerase chain reaction in the detection of pseudomonas aeruginosa in contact lens-induced severe infectious keratitis

Subrayan V, Peyman M, Lek Yap S, Mohamed Ali NA, Devi S

Eye Contact Lens, 2010 Jul;36(4):201-3.
PMID: 20531205 DOI: 10.1097/ICL.0b013e3181e3efa3

PURPOSE: The aim of this study is to evaluate the role of real-time polymerase chain reaction (PCR) and conventional bacterial culture methods in the detection of Pseudomonas aeruginosa in contact lens-induced severe, partially treated corneal ulcers referred to a tertiary center.
METHODS: The study duration was 6 months. All patients with contact lens-related corneal ulcer, requiring admission during the study period were recruited. Samples from corneal scrapings were simultaneously sent at the time of admission for PCR and culture testing. An in-house real-time PCR was developed to detect the P. aeruginosa lasA gene. The results of PCR and culture were compared using McNemar's chi2 test.
RESULTS: Ten patients were recruited. The mean age was 33 years (20-45 years). All the patients had contact lens-related keratitis (>4 mm) of which eight (80%) were found positive for P. aeruginosa by PCR or culture. There was no significant difference between PCR and culture in detecting P. aeruginosa (P<0.05).
CONCLUSIONS: PCR is, at least, as good as conventional cultures in detecting P. aeruginosa. It is a rapid assay as compared with culture, and early detection enables prompt treatment thus reducing the destructive effect of the organism on the cornea.
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 Tree traits and canopy closure data from an experiment with 34 planted species native to Sabah, Borneo

Gustafsson M, Gustafsson L, Alloysius D, Falck J, Yap S, Karlsson A, et al.

Data Brief, 2016 Mar;6:466-70.
PMID: 26900591 DOI: 10.1016/j.dib.2015.12.048

The data presented in this paper is supporting the research article "Life history traits predict the response to increased light among 33 tropical rainforest tree species" [3]. We show basic growth and survival data collected over the 6 years duration of the experiment, as well as data from traits inventories covering 12 tree traits collected prior to and after a canopy reduction treatment in 2013. Further, we also include canopy closure and forest light environment data from measurements with hemispherical photographs before and after the treatment.
Improved high performance liquid chromatographic analysis of omeprazole in human plasma

Yuen KH, Choy WP, Tan HY, Wong JW, Yap SP

J Pharm Biomed Anal, 2001 Feb;24(4):715-9.
PMID: 11272330

A simple high-performance liquid chromatographic method was developed for the determination of omeprazole in human plasma. Omeprazole and the internal standard, chloramphenicol, were extracted from alkalinized plasma samples using dichloromethane. The mobile phase was 0.05 M Na2HPO4-ACN (65:35, v/v) adjusted to pH 6.5. Analysis was run at a flow rate of 1.0 ml/min at a detection wavelength of 302 nm. The method was specific and sensitive with a detection limit of 2.5 ng/ml at a signal-to-noise ratio of 4:1. The limit of quantification was set at 5 ng/ml. The calibration curve was linear over a concentration range of 5-1280 ng/ml. Mean recovery value of the extraction procedure was about 96%, while the within and between day coefficient of variation and percent error values of the assay method were all less than 14%.
Replacement of animal fat with fractionated and partially hydrogenated palm oil in beef burgers

Babji AS, Alina AR, Seri Chempaka MY, Sharmini T, Basker R, Yap SL

Int J Food Sci Nutr, 1998 Sep;49(5):327-32.
PMID: 10367001

Four formulations of burgers, prepared with 65% lean meat and 15% fat consisting of RBD palm stearin (PS), Socfat 4000P and Socfat 4100P and beef fat (BF) as control were evaluated for solid fat content (SFC), slip melting point (SMP), cooking loss, proximate analysis (moisture, fat and protein), colour, i.e. lightness ('L'), redness ('a') and yellowness ('b'), free fatty acid (FFA), iodine value (IV), thiobarbituric acid (TBA) and texture profile analysis (TPA). Sensory evaluation was carried out for texture, juiciness, aroma, oiliness and overall acceptance. SFC and SMP for raw and cooked SF4000P beef burgers were closest to BF control burgers, falling into the range of 35-40 degrees C. Cooking loss was highest for PS burgers, there were no significant differences (P > 0.05) amongst BF, SF4000P and SF4100P burgers. Proximate analysis on raw burgers showed SF4000P to contain high fat and lowest moisture contents. Objective textural measurements using texture profile analysis (TPA) for all cooked burgers showed no significant differences (P > 0.05) for springiness and cohesiveness. Variation of values among the formulations for hardness, gumminess and chewiness are explained by the differences of SFC for beef burgers with various types of fats. Raw and cooked PS burgers have the lightest 'L' values compared with other fat-substituted burgers while BF, SF4000P and SF4100P indicated no significant differences (P > 0.05) for 'L', 'a' and 'b' values. Beef fat showed the highest amount of free fatty acids (FFA) compared to palm oil samples. For the iodine value (IV), SF4000P showed the highest value which means that it contained the highest level of unsaturated fatty acids followed by PS, BF and SF4100P successively. SF4000P had the highest TBA values followed successively by BF, PS and SF4100P. For sensory evaluation, PS burgers had the least oily taste. This may be due to its high cooking loss. Taste panelists could not differentiate burgers with substituted vegetable fats against the control burgers.
A single, large deletion accounts for all the beta-globin gene mutations in twenty families from Sabah (North Borneo), Malaysia. Mutation in brief no. 240. Online

Thong MK, Rudzki Z, Hall J, Tan JA, Chan LL, Yap SF

Hum Mutat, 1999;13(5):413.
PMID: 10338100 DOI: 10.1002/(SICI)1098-1004(1999)13:5<413::AID-HUMU15>

Beta-thalassemia major is one of the commonest genetic disorders in South-East Asia. The spectrum of beta-thalassemia mutations in the various ethnic sub-populations on the island of Borneo is unknown. We studied 20 Dusun children from the East Malaysian state of Sabah (North Borneo) with a severe beta-thalassemia major phenotype, using a combination of Southern analysis, polymerase chain reaction analysis and direct sequencing. We found the children to be homozygous for a large deletion, which has a 5' breakpoint at position -4279 from the cap site of the beta-globin gene (HBB) with the 3' breakpoint located in a L1 family of repetitive sequences at an unknown distance from the beta-globin gene. This was similar to a recent finding of a large deletion causing beta-thalassemia first described in unrelated beta-thalassemia heterozygotes of Filipino descent. This report describes the first 20 families with homozygosity of the deletion causing a severe phenotype. It provides the first information on the molecular epidemiology of beta-thalassemia in Sabah. This finding has implications for the population genetics and preventative strategies for beta-thalassemia major for nearly 300 million individuals in South-East Asia.
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.
Fulltext A study on the food and nutritional status of the Armed Forces

Chong YH, Tee ES, Ng TKW, Yap SB, Mok SK

Med J Malaysia, 1982 Mar;37(1):46-51.
PMID: 7121346

The nutritional status of 158 soldiers drawn from four army camps in Selangor, Negeri Sembilan and Pahang has been assessed by biochemical procedures, nutritional anthropometry and dietary (chemical) analysis. Biochemical assessment showed that with the exception of thiamin and riboflavin nutriture, the nutritional status of the soldiers appeared generally satisfactory and seemed to have improved slightly over those examined by the Inter-Departmental Committee on Nutrition and National Defence (ICNND), USA, in 1962 by similar methods. The anthropometric assessment indicated that the present day soldiers have the same mean height as those examined in 1962. Although they appeared slightly heavier, obesity did not seem to be a problem. Chemical analysis of their diet showed that there is room for improvement in the dietary supply of vitamin A and some of the water-soluble vitamins, particularly riboflavin, thiamin and vitamin C. There was also a significant discrepancy between the nutritional content of the chemically-analysed cooked meals and those calculated from the ration scales using Food Composition Tables, suggesting a need to review the current system of food supply,
preparation and food sertnce unthin army camps in
Malaysia.
Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients

Abdullah IS, Teh SH, Khaidizar FD, Ngu LH, Keng WT, Yap S, et al.

Genes Genomics, 2019 08;41(8):885-893.
PMID: 31028654 DOI: 10.1007/s13258-019-00815-9

BACKGROUND: Glycogen storage disease type III is an autosomal recessive disorder that is caused by deficiencies of the glycogen debranching enzyme. Mutations within the AGL gene have been found to be heterogeneous, with some common mutations being reported in certain populations. The mutation spectrum of AGL gene in the multi-ethnic Malaysian population is still unknown.
OBJECTIVE: The present study seeks to determine the mutation spectrum of the AGL gene in Malaysian population.
METHODS: A total of eleven patients (eight Malay, two Chinese and one Bajau) were investigated. Genomic DNA was extracted and subsequently the AGL gene was amplified using specific primers and sequenced. Mutations found were screened in 150 healthy control samples either by restriction enzyme digestion assay or TaqMan® SNP Genotyping assay.
RESULTS: We identified six unreported mutations (c.1423+1G>T, c.2914_2915delAA, c.3814_3815delAG, c.4333T>G, c.4490G>A, c.4531_4534delTGTC) along with three previously reported mutations (c.99C>T, c.1783C>T, c.2681+1G>A). One of the six unreported mutation causes abnormal splicing and results in retention of intron 12 of the mature transcript, while another is a termination read-through. One of the reported mutation c.2681+1G>A was recurrently found in the Malay patients (n = 7 alleles; 31.8%).
CONCLUSION: The mutation spectrum of the AGL gene in Malaysian patients has shown considerable heterogeneity, and all unreported mutations were absent in all 150 healthy control samples tested.
Fulltext Can Paediatric Femoral Fracture Hip Spica Application be Done in the Outpatient Setting?

Yap ST, Lee N, Ang ML, Chui RW, Lim K, Arjandas M, et al.

Malays Orthop J, 2021 Mar;15(1):105-112.
PMID: 33880156 DOI: 10.5704/MOJ.2103.016

Introduction: Hip spica casting is a standard treatment for children with femur fractures. This study compares the outcomes of spica cast application, in terms of quality of fracture reduction and hospital charges when performed in operating theatre versus outpatient clinics at a local institution.
Materials and Methods: A total of 93 paediatric patients, aged between 2 months to 8 years, who underwent spica casting for an isolated femur fracture between January 2008 and March 2019, were identified retrospectively. They were separated into inpatient or outpatient cohort based on the location of spica cast application. Five patients with metaphyseal fractures and four with un-displaced fractures were excluded. There were 13 and 71 patients in the outpatient and inpatient cohort respectively who underwent spica casting for their diaphyseal and displaced femur fractures. Variables between cohorts were compared.
Results: There were no significant differences in gender, fracture pattern, and mechanism of injury between cohorts. Spica casting as inpatients delayed the time from assessment to casting (23.55 ± 29.67h vs. 6.75 ± 4.27h, p<0.05), increased average hospital stay (41.2 ± 31.1h vs. 19.2 ± 15.0h, p<0.05) and average hospital charges (US$1857.14 vs US$775.49, p<0.05). Excluding the un-displaced fractures, there were no significant differences in the period of cast immobilisation and median follow-up length. Both cohorts had a similar proportion of unacceptable reduction and revision casting rate.
Conclusion: Both cohorts presented similar spica casting outcomes of fracture reduction and follow-up period. With spica cast application in operating theatre reporting higher hospital charges and prolonged hospital stay, the outpatient clinic should always be considered for hip spica application.
Succinic Semialdehyde Dehydrogenase Deficiency in a Chinese Boy: A Novel ALDH5A1 Mutation With Severe Phenotype

Tay CG, Ariffin H, Yap S, Rahmat K, Sthaneshwar P, Ong LC

J Child Neurol, 2015 Jun;30(7):927-31.
PMID: 25122112 DOI: 10.1177/0883073814540523

Succinic semialdehyde dehydrogenase deficiency is a rare autosomal recessive disorder affecting catabolism of the neurotransmitter gamma-aminobutyric acid (GABA), with a wide range of clinical phenotype. We report a Malaysian Chinese boy with a severe early onset phenotype due to a previously unreported mutation. Urine organic acid chromatogram revealed elevated 4-hydroxybutyric acid. Magnetic resonance imaging (MRI) of the brain demonstrated cerebral atrophy with atypical putaminal involvement. Molecular genetic analysis showed a novel homozygous 3-bp deletion at the ALDH5A1 gene c.1501_1503del (p.Glu501del). Both parents were confirmed to be heterozygotes for the p.Glu501del mutation. The clinical course was complicated by the development of subdural hemorrhage probably as a result of rocking the child to sleep for erratic sleep-wake cycles. This case illustrates the need to recognize that trivial or unintentional shaking of such children, especially in the presence of cerebral atrophy, can lead to subdural hemorrhage.

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