Displaying publications 61 - 80 of 485 in total

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  1. Fulltext Current Perspectives and Unmet Needs of Primary Immunodeficiency Care in Asia Pacific
    Leung D, Chua GT, Mondragon AV, Zhong Y, Nguyen-Ngoc-Quynh L, Imai K, et al.
    Front Immunol, 2020;11:1605.
    PMID: 32903579 DOI: 10.3389/fimmu.2020.01605
    Background: The Asia Pacific Society for Immunodeficiencies (APSID) conducted nine primary immunodeficiency (PID) Schools in 5 years since inauguration to provide PID care training for early career physicians in Asia Pacific, a region with divergent needs in PID resources and training. Objective: To identify differences in PID patient care resource and training needs across Asia Pacific and propose a corresponding action plan. Methods: The Human Development Index (HDI) indicates the degree of socio-economic development in each country/region. Information related to investigations and learning issues were extracted from the abstracts and personal statements from all Schools and mapped onto resource and training needs. Correlations between HDI and country/region-specific parameters were tested by two-tailed Pearson correlation. Results: A total of 427 abstracts were received in nine Schools between 2015 and 2020, predominantly on immunodeficiencies affecting cellular and humoral immunity. Genetic confirmation was described in 61.8% of abstracts, and its absence negatively correlated with HDI (r = -0.696, p = 0.004). Essential immunologic and genetic tests were not available in 25.4 and 29.5% of abstracts, respectively, and their absence negatively correlated with HDI (r = -0.788, p < 0.001; r = -0.739, p = 0.002). HDI positively correlated with average testing level (r = 0.742, p = 0.002). Cases from medium-HDI countries/regions focused on learning how to investigate a patient for PIDs in cases of severe or atypical infections, whereas those from very-high-HDI countries/regions, from which most faculty members originated, listed hematopoietic stem cell transplantation and gene therapy, newborn screening, and research as learning issues more frequently. Conclusion: There are unique HDI-related PID resource and training needs in each country/region. APSID proposes HDI group-specific strategies to improve PID care and education in her member countries/regions. Further quantitative analysis of needs in PID care in Asia Pacific is needed for lobbying governments to increase their support for PID care and research.
    Matched MeSH terms: Immunologic Deficiency Syndromes/diagnosis; Immunologic Deficiency Syndromes/etiology; Immunologic Deficiency Syndromes/epidemiology*; Immunologic Deficiency Syndromes/therapy
  2. Anaemia and iron deficiency anaemia among aboriginal schoolchildren in rural Peninsular Malaysia: an update on a continuing problem
    Al-Mekhlafi MH, Surin J, Atiya AS, Ariffin WA, Mahdy AK, Abdullah HC
    Trans R Soc Trop Med Hyg, 2008 Oct;102(10):1046-52.
    PMID: 18617209 DOI: 10.1016/j.trstmh.2008.05.012
    A cross-sectional study to determine the current prevalence of anaemia and iron deficiency anaemia (IDA) and to investigate the possible risk factors for IDA was carried out on 241 aboriginal schoolchildren (120 boys, 121 girls) aged 7-12 years and living in remote areas in Pos Betau, Pahang, Malaysia. Haemoglobin (Hb) level was measured and serum iron status was assessed by serum ferritin (SF), serum iron (SI) and total iron binding capacity measurements. Socioeconomic data were collected using pre-tested questionnaires. All children were screened for intestinal parasitic infections. Overall, 48.5% (95% CI 42.3-54.8) of children were anaemic (Hb<12 g/dl). The prevalence of IDA was 34% (95% CI 28.3-40.2), which accounted for 70.1% of the anaemia cases. The prevalence of IDA was significantly higher in females than males. Low levels of mothers' education and low household income were identified as risk factors for IDA. Severe trichuriasis also found to be associated with low SF and SI. Logistic regression confirmed low levels of mothers' education and gender as significant risk factors for IDA. Improvement of socioeconomic status and health education together with periodic mass deworming should be included in public health strategies for the control and prevention of anaemia and IDA in this population.
    Matched MeSH terms: Iron/deficiency; Anemia, Iron-Deficiency/ethnology; Anemia, Iron-Deficiency/epidemiology*; Anemia, Iron-Deficiency/parasitology
  3. Fulltext Clinical, biochemical, molecular characteristics and clinical outcome of hyperhomocysteinemia in Malaysian children
    Habib A, Idrus H, Malik NAA, Nor AM, Nasohah SM, Moey LH, et al.
    Clin Biochem, 2024 Dec;133-134:110828.
    PMID: 39322052 DOI: 10.1016/j.clinbiochem.2024.110828
    BACKGROUND: Hyperhomocysteinemia can be due to various abnormalities of the complex interaction of methionine, folate and vitamin B12. It has been known to be a cardiovascular risk factor. This study aims to review the clinical presentation, underlying causes and clinical outcome in paediatric patients diagnosed with significant hyperhomocysteinemia in Malaysia.

    DESIGN AND METHODS: Data were obtained from the medical records and the laboratory information system. Paediatric patients with significant hyperhomocysteinemia were identified from a selective high-risk screening of 96,721 patients, performed between 2010 and 2022. Inclusion criteria for the study were paediatric patients with significant hyperhomocysteinemia (>40 µmol/L).

    RESULTS: Sixteen patients were identified. The average total homocysteine (tHcy) and methionine were 269 µmol/L and 499 µmol/L in cystathionine β-synthase deficiency (CBS), 127 µmol/L and 29 µmol/L in patients with remethylation defects and 390 µmol/L and 4 µmol/L in congenital B12 deficiency. We found c.609G>A as the most prevalent mutation in MMACHC gene and possible novel mutations for CBS (c.402del, c.1333C>T and c.1031T>G) and MTHFR genes (c.266T>A and c.1249del). Further subclassification revealed CBS was 5/16 patients (31 %), remethylation defects was 9/16 (56 %) and congenital B12 deficiency was 2/16 (13 %). All patients received standard treatment and regular monitoring of the main biomarkers. The average age at the time of diagnosis were 9.2 years (CBS) and 1.2 years (remethylation defects). Congenital B12 deficiency had slight delay in milestones, remethylation defects had mild to moderate learning disabilities, CBS had variable degree of intellectual disability, delayed milestones, ophthalmological abnormalities, and thrombosis at an early adolescent/adulthood.

    CONCLUSIONS: The majority of significant hyperhomocysteinemia in Malaysian children was due to remethylation defects. Screening for hyperhomocysteinemia in Malaysian children is recommended for earlier treatment and improved clinical outcome.

    Matched MeSH terms: Vitamin B 12 Deficiency/diagnosis; Vitamin B 12 Deficiency/genetics; Vitamin B 12 Deficiency/epidemiology; Methylenetetrahydrofolate Reductase (NADPH2)/deficiency
  4. Fulltext Familial antithrombin III deficiency in a Malay patient with massive thrombosis
    Wan Ab Rahman WS, Abdullah WZ, Hassan MN, Hussin A, Zulkafli Z, Haron J
    Malays J Pathol, 2017 Aug;39(2):197-200.
    PMID: 28866705 MyJurnal
    Patients with low antithrombin III (AT III) has increased risk for arteriovenous thromboembolic (TE) disease. We report a 28-year-old Malay lady who presented with spontaneous right calf pain and swelling of one week duration. She was on oral contraceptive pills and had a history of travelling for a long distance prior to the presentation. Her brother who was diagnosed with AT III deficiency had arterial thrombosis at a young age. She was diagnosed as having right popliteal vein thrombosis by ultrasound and treated with subcutaneous fondaparinux. While on treatment, she developed massive bilateral pulmonary embolism (PE). Thrombophilia study showed reduced AT III activity (38μl/dl) and normal results for protein C, protein S, activated protein C resistance and lupus anticoagulant assays. This patient has heterozygous AT III deficiency added with significant acquired factors responsible for the TE events. Those with AT III deficiency may have resistance to heparin therapy and require higher doses of heparin.
    Matched MeSH terms: Antithrombin III Deficiency/complications*
  5. Functional characterization of the gene promoter for an Elaeis guineensis phosphate starvation-inducible, high affinity phosphate transporter in both homologous and heterologous model systems
    Ahmadi F, Akmar Abdullah SN, Kadkhodaei S, Ijab SM, Hamzah L, Aziz MA, et al.
    Plant Physiol Biochem, 2018 Jun;127:320-335.
    PMID: 29653435 DOI: 10.1016/j.plaphy.2018.04.004
    Oil palm is grown in tropical soils with low bioavailability of Pi. A cDNA clone specifically expressed under phosphate-starvation condition in oil palm roots was identified as a high-affinity phosphate transporter (EgPHT1). The deduced amino acid sequence has 6 transmembrane domains each at the N- and C-termini separated by a hydrophilic linker. Comparison of promoter motifs within 1500 bp upstream of ATG of 10 promoters from high- and low-affinity phosphate transporter from both dicots and monocots including EgPHT1 was performed. The EgPHT1 promoter was fused to β-glucuronidase (GUS) reporter gene and its activity was analysed by histochemical and fluorometric GUS assays in transiently transformed oil palm tissues and T3 homozygous transgenic Arabidopsis plants. In response to Pi-starvation, no GUS activity was detected in oil palm leaves, but a strong inducible activity was observed in the roots (1.4 times higher than the CaMV35S promoter). GUS was specifically expressed in transgenic Arabidopsis roots under Pi deficiency and starvation of the other macronutrients (N and K) did not induce GUS activity. Eight motifs including ABRERATCAL (abscisic-acid responsive), RHERPATEXPA7 (root hair-specific), SURECOREATSULTR11 (sulfur-deficiency response), LTRECOREATCOR15 (temperature-stress response), MYB2CONSENSUSAT and ACGTATERD1 (water-stress response) as well as two novel motifs, 3 (TAAAAAAA) and 26 (TTTTATGT) identified through pattern discovery, occur at significantly higher frequency (p 
    Matched MeSH terms: Phosphates/deficiency*
  6. Fulltext Mutation Study of Malaysian Patients with Ornithine Transcarbamylase Deficiency: Clinical, Molecular, and Bioinformatics Analyses of Two Novel Missense Mutations of the OTC Gene
    Ali EZ, Zakaria Y, Mohd Radzi MA, Ngu LH, Jusoh SA
    Biomed Res Int, 2018;2018:4320831.
    PMID: 30175132 DOI: 10.1155/2018/4320831
    Ornithine transcarbamylase deficiency (OTCD), an X-linked disorder that results from mutations in the OTC gene, causes hyperammonemia and leads to various clinical manifestations. Mutations occurring close to the catalytic site of OTCase can cause severe OTCD phenotypes compared with those caused by mutations occurring on the surface of this protein. In this study, we report two novel OTC missense mutations, Q171H and N199H, found in Malaysian patients. Q171H and N199H caused neonatal onset OTCD in a male and late OTCD in a female, respectively. In silico predictions and molecular docking were performed to examine the effect of these novel mutations, and the results were compared with other 30 known OTC mutations. In silico servers predicted that Q171H and N199H, as well as 30 known missense mutations, led to the development of OTCD. Docking analysis indicated that N-(phosphonoacetyl)-L-ornithine (PALO) was bound to the catalytic site of OTCase mutant structure with minimal conformational changes. However, the mutations disrupted interatomic interactions in the catalytic site. Therefore, depending on the severity of disruption occurring at the catalytic site, the mutation may affect the efficiency of mechanism and functions of OTCase.
    Matched MeSH terms: Ornithine Carbamoyltransferase Deficiency Disease/genetics*
  7. Fulltext Potential Point-of-Care Microfluidic Devices to Diagnose Iron Deficiency Anemia
    Yap BK, M Soair SN, Talik NA, Lim WF, Mei I L
    Sensors (Basel), 2018 Aug 10;18(8).
    PMID: 30103424 DOI: 10.3390/s18082625
    Over the past 20 years, rapid technological advancement in the field of microfluidics has produced a wide array of microfluidic point-of-care (POC) diagnostic devices for the healthcare industry. However, potential microfluidic applications in the field of nutrition, specifically to diagnose iron deficiency anemia (IDA) detection, remain scarce. Iron deficiency anemia is the most common form of anemia, which affects billions of people globally, especially the elderly, women, and children. This review comprehensively analyzes the current diagnosis technologies that address anemia-related IDA-POC microfluidic devices in the future. This review briefly highlights various microfluidics devices that have the potential to detect IDA and discusses some commercially available devices for blood plasma separation mechanisms. Reagent deposition and integration into microfluidic devices are also explored. Finally, we discuss the challenges of insights into potential portable microfluidic systems, especially for remote IDA detection.
    Matched MeSH terms: Anemia, Iron-Deficiency/diagnosis*
  8. Fulltext Iodine deficiency disorders among pregnant women in Sarawak, Malaysia
    Lim KK, Chan YY, Mahmud NA, Ismail H, Tan BC, Chua BK, et al.
    Int J Public Health Res, 2018;8(2):980-986.
    MyJurnal
    Introduction Iodine deficiency disorders (IDD) during pregnancy may impair the neurological development of the fetus. The aim of this study is to determine the iodine status among pregnant women (PW) in Sarawak after introduction of mandatory universal salt iodisation (USI) for seven years.
    Methods A total of 508 first trimester PW attending government Maternal and Child Health Care clinics in all 11 divisions in Sarawak between 1st April and 15th June 2015 were recruited. Urine samples were obtained and analysed for urinary iodine concentration (UIC) using the modified Sandell-Kolthoff reaction method. For pregnant women, an adequate iodine intake was defined as a median UIC between 150-249 µg/L according to the WHO/UNICEF/ICCIDD’s criterion. For further analyses, the 11 divisions were then combined into 3 regions, namely Northern (Miri, Bintulu, Limbang), Central (Kapit, Mukah, Sibu, Sarikei, Betong) and Southern (Kota Samarahan, Kuching, Sri Aman).
    Results TThe median UIC of the PW in Sarawak was 105.6 µg/L, indicating iodine deficiency. A total of 330 (65.0%) PW had UIC<150 µg/L. In terms of urinary iodine levels by region, the median UIC in Northern, Central and Southern regions were 136.3 µg/L, 85.5 µg/L and 97.4 µg/L respectively. The differences in median UIC between regions were significant. In addition, the Northern region (p = 0.001), Malay/Melanau ethnicity (p = 0.015) and parous parity (p = 0.014) were significantly associated with higher median UIC. No significant association was found for locality, age nor gravida.
    Conclusions This study indicates inadequate iodine status among PW in Sarawak despite seven years of mandatory USI. In fact, the majority of PW appear not to be protected against IDD and its consequences. In future, a comprehensive study should be carried out to determine the levels of iodine in salt at the retail outlets, villages and households in Sarawak.
    Keywords Iodine deficiency disorders - Pregnant women - Mandatory USI - Sarawak
    Matched MeSH terms: Iodine/deficiency*
  9. Co-inheritance of Southeast Asian Ovalocytosis (SAO) and G6PD deficiency associated with acute hemolysis in a Thai patient
    Prayongratana K, Viprakasit V
    Blood Cells Mol. Dis., 2019 11;79:102347.
    PMID: 31323480 DOI: 10.1016/j.bcmd.2019.102347
    Matched MeSH terms: Glucosephosphate Dehydrogenase Deficiency/genetics*
  10. Influence of iron, growth temperature and plasmids on siderophore production in Aeromonas hydrophila
    Naidu AJ, Yadav M
    J Med Microbiol, 1997 Oct;46(10):833-8.
    PMID: 9364139
    Aeromonas hydrophila strains obtained from diarrhoeal samples of human patients (19 isolates) and freshwater ponds (11 isolates) were analysed for siderophore production. Both clinical and environmental isolates showed significantly increased siderophore production under iron-limiting conditions both at 28 degrees C and at 37 degrees C. Clinical isolates consistently produced higher levels of siderophores than did the environmental isolates. The role of plasmids in moderating siderophore production was studied after curing with acridine orange. Treatment with acridine orange for 24 h removed the larger plasmids but the smaller plasmids (< 5 MDa), more common in the environmental isolates, were resistant to curing. As found in the untreated isolates, the cured clinical isolates produced higher mean levels of siderophores than the cured environmental isolates. Siderophore production in A. hydrophila was significantly influenced by iron-limiting cultural conditions and the source of isolates, but plasmid content and growth temperature at 28 degrees C or 37 degrees C had little effect on production. The basis for the greater production of siderophores in clinical isolates than in environmental isolates needs further study.
    Matched MeSH terms: Iron/deficiency*
  11. Selective IgA deficiency presenting with hypersplenism
    Teh A, Bosco JJ
    Br J Clin Pract, 1994 Sep-Oct;48(5):276-7.
    PMID: 7917827
    A young patient presenting with splenomegaly and hypersplenism was inadvertently found to have selective IgA deficiency. There were no symptoms of immunodeficiency and the patient responded well to splenectomy, with return of blood counts to normal without adverse effects. No other cause for the hypersplenism was found. We postulate selective IgA deficiency as a cause of splenomegaly and hypersplenism.
    Matched MeSH terms: IgA Deficiency/complications*
  12. Cerebral venous thrombosis associated with antithrombin III deficiency
    Lee MK, Ng SC
    Aust N Z J Med, 1991 Oct;21(5):772-3.
    PMID: 1759929
    Matched MeSH terms: Antithrombin III Deficiency*
  13. Fulltext Oral submucous fibrosis--an alternative hypothesis as to its causes
    Ramanathan K
    Med J Malaysia, 1981 Dec;36(4):243-5.
    PMID: 7334962
    Submucous fibrosis (SMF) an important precancerous condition occurs almost exclusively in Indians but cases have been reported from several countries throughout the world. The causes of SMF are unknown and there is no known treatment for it. Chillies, tobacco use, vitamin deficiencies and betel quid chewing have been implicated. Ramanathan is of the view that SMF seems to be the Asian version of sideropenic dysphagia. He suggests that SMF appears to be an altered oral mucosa following a prolonged period of chronic deficiency of iron and/or vitamin B complex especially folic acid. This changed state of the oral mucosa subsequently appears to develop more easily a hypersensz"tivity to oral irritants such as spices especially chillies and to the betel quid. He provides biochemical data as well as quotes several studies to support his hypothesis.
    Matched MeSH terms: Vitamin B Deficiency/complications
  14. Fulltext [Anti-neuritis vitamin and beriberi. Nobel prize paper. 1929]
    Eijkman C
    Ned Tijdschr Geneeskd, 1990 Aug 25;134(34):1654-7.
    PMID: 2215709
    Matched MeSH terms: Thiamine Deficiency/history
  15. Prevalence of erythrocyte G6PD deficiency in Sabah
    Fong T
    Mod Med Asia, 1977 Sep;13(9):14-6.
    PMID: 340882
    Matched MeSH terms: Glucosephosphate Dehydrogenase Deficiency/epidemiology*
  16. Fulltext Alpha-1-antitrypsin deficiency in babies with prolonged jaundice
    Zakiah I, Zaini AR, Jamilah B, Zawiah A
    Malays J Pathol, 1992 Dec;14(2):91-4.
    PMID: 1304630
    Over a three-year-period, 310 babies with prolonged jaundice admitted to GHKL were studied, to determine the incidence of alpha-1-antitrypsin deficiency as a cause of the problem. Ninety-two babies (29.7%) were found to be alpha-1-antitrypsin deficient. The percentage incidence was found to be highest in Indians (33.3%), followed by Malays (31.9%) and Chinese (26.7%). There was a male preponderance with a M:F ratio of 1.6:1. Most of these babies presented at the hospital at the age of more than two weeks but less than one month. Apart from the problem of prolonged jaundice and alpha-1-antitrypsin deficiency, 2 had associated bleeding problems, 11 associated infections and 3 respiratory problems. Two babies had clinical features of Down's syndrome, 2 had G6PD deficiency and 1 had congenital hypothyroidism. AST, ALT and ALPO4 were high in 20, 26 and 3 babies respectively.
    Matched MeSH terms: alpha 1-Antitrypsin Deficiency*
  17. Fulltext Glucose-6-phosphate dehydrogenase deficiency: a preventable cause of mental retardation
    Singh H
    Br Med J (Clin Res Ed), 1986 Feb 08;292(6517):397-8.
    PMID: 3080188 DOI: 10.1136/bmj.292.6517.397
    Over two years cord blood from 27 879 babies was screened for glucose-6-phosphate dehydrogenase (G6PD) deficiency. The overall incidence was 3.1% in boys and 1.6% in girls. Sixty nine babies had severe jaundice (bilirubin concentration greater than 380 mmol/l (20 mg/100 ml], and exchange transfusion was performed. Parents were given written and verbal instructions to avoid herbs and drugs that trigger kernicterus, which reduced the incidence of kernicterus and thereby prevented mental retardation. G6PD deficiency is common in all three ethnic groups (Malays, Chinese, and Indians) in Malaysia and screening is recommended.
    Matched MeSH terms: Glucosephosphate Dehydrogenase Deficiency/epidemiology*
  18. Iron and infection: the clinical evidence
    Oppenheimer SJ
    Acta Paediatr Scand Suppl, 1989;361:53-62.
    PMID: 2485586
    Iron deficiency is prevalent in childhood in the developed and developing countries. Programs of presumptive therapy, mass supplementation and food fortification have been introduced in many countries. The unresolved debate over the interaction of iron and infection in the clinical setting prompts re-evaluation of these practices. Situations of iron overload are associated with increased susceptibility to certain infections, although the exact mechanisms may vary with the main pathology. Iron treatment has been associated with acute exacerbations of infection, in particular malaria. In most instances parenteral iron was used. In the neonate parenteral iron is associated with serious E. coli sepsis. In one country, with endemic malaria, parenteral iron was associated with increased rates of malaria and increased morbidity due to respiratory disease in infants. In contrast in non-malarious countries studies of oral iron supplementation have if anything shown a reduction in infectious morbidity. Methodological problems in the latter reports indicate the need for further controlled prospective studies with accurate morbidity recording if informed recommendations are to be made.
    Matched MeSH terms: Iron/deficiency
  19. Ecological assessment of vitamin A status of primary school children in Ulu Trengganu
    Chandrasekharan N
    Med J Malaysia, 1975 Mar;30(3):187-94.
    PMID: 1160677
    Matched MeSH terms: Vitamin A Deficiency/epidemiology*
  20. Abnormal hemoglobins, glucose-6-phosphate dehydrogenase deficiency and hereditary ovalocytosis in the Dayaks of Sarawak
    Ganesan J, Lie-Injo LE, Ong Beng P
    Hum Hered, 1975;25(4):258-62.
    PMID: 1184011 DOI: 10.1159/000152733
    A survey of abnormal hemoglobins, G6PD deficiency and hereditary ovalocytosis was carried out among the Dayaks of Sarawak. The only abnormal hemoglobin found was Hb Co Sp, which occurred in 0.35% of the Land Dayaks and 0.83% of the Sea Dayaks. G6PD deficiency occurred in 5.3% of the male Land Dayaks and 5.0% of the male Sea Dayaks; no electrophoretic variant of G6PD was found in any of the 285 Land Dayaks and 240 Sea Dayaks examined. Hereditary ovalocytosis was found in 12.7% of the Land Dayaks and 9.0% of the Sea Dayaks.
    Matched MeSH terms: Glucosephosphate Dehydrogenase Deficiency/epidemiology*
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