Displaying all 20 publications

Abstract:
Sort:
  1. Neurenteric cyst of the cervicothoracic junction: A rare cause of paraparesis in a paediatric patient
    Sheaufung S, Taufiq A, Nawawi O, Naicker MS, Waran V
    J Clin Neurosci, 2009 Apr;16(4):579-81.
    PMID: 19201194 DOI: 10.1016/j.jocn.2008.04.029
    Neurenteric cysts are rare congenital spinal masses that result from the dysgenesis of the endoderm tissue during development. We report a 4-year-old girl who presented with an insidious onset of lower limb paraparesis. An MRI scan revealed a cervicothoracic intradural extramedullary neurenteric cyst at the thoracic T1/T2 level, with marked spinal cord compression. No associated spinal dysraphism was noted. The patient underwent laminotomy and excision of the cyst. She recovered her neurological functions completely post-operatively, and at her six-month follow-up she was asymptomatic without any neurological deficits. We will discuss the pathogenesis, clinical presentation, and neuroradiological findings. We emphasize the value of early surgical intervention and long-term follow-up when this type of lesion is only partially excised.
    Matched MeSH terms: Neural Tube Defects/complications*; Neural Tube Defects/pathology*
  2. Fulltext Red cell folate and predicted neural tube defect rate in three Asian cities
    Green TJ, Skeaff CM, Venn BJ, Rockell JE, Todd JM, Khor GL, et al.
    Asia Pac J Clin Nutr, 2007;16(2):269-73.
    PMID: 17468082
    Periconceptional folic acid reduces neural tube defect (NTD) risk. Red blood cell folate concentration is inversely associated with NTD risk. In many countries there is a lack of information on NTD rates. Red cell folate status in women of childbearing age may be a surrogate for NTD rates and may be helpful in identifying countries or regions most likely to benefit from improved folate status.
    Matched MeSH terms: Neural Tube Defects/blood; Neural Tube Defects/ethnology; Neural Tube Defects/epidemiology*; Neural Tube Defects/prevention & control
  3. Prenatal detection of birth defects in a Malaysian population: estimation of the influence of termination of pregnancy on birth prevalence in a developing country
    Ho JJ, Thong MK, Nurani NK
    Aust N Z J Obstet Gynaecol, 2006 Feb;46(1):55-7.
    PMID: 16441696
    We studied 253 women with a pregnancy complicated by a birth defect and 506 controls to determine the frequency and type of prenatal tests and the types of defects detected antenatally. Most women had at least one ultrasound examination, but the frequency of other screening tests was low. Only 38 (15%) of defects were detected antenatally (37 by ultrasound). Birth prevalence is unlikely to be affected by pregnancy termination.
    Matched MeSH terms: Neural Tube Defects/diagnosis; Neural Tube Defects/epidemiology
  4. Rare morbidity of permanent quadriplegia caused by neurenteric cyst of the cervical cord
    Tan Chor Lip H, Jih Huei T, Chong Abdullah A, Rahman NABA
    Avicenna J Med, 2019 5 31;9(2):78-81.
    PMID: 31143701 DOI: 10.4103/ajm.AJM_153_18
    The incidence of neurenteric cyst (NC) is rare, accounting for 0.3%-1.3% of all spine tumors. The occurrence of quadriplegia caused by NC is even scarcer. Herein we report on a young girl with a rare NC over the C2-C5 spinal cord, which led to the morbidity of permanent quadriplegia despite early surgical intervention. This case highlights the rare morbidity of cervical cord NC presenting with permanent quadriplegia that failed to respond despite early surgical excision.
    Matched MeSH terms: Neural Tube Defects
  5. Uncovering neural tube defects in humans through candidate gene expression patterns in mouse embryos
    Nor Linda Abdullah, Mustakiza Muslimin, Hoo, Wan Mun, Fahimah Noor Ngah, Sheikh Mohd Norhafiz Abdul Aziz, Nor Syazwani Yip, et al.
    Orient Neuron Nexus, 2010;1(1):2-6.
    MyJurnal
    Neural tube defects (NTDs) are the leading cause of disability in humans arising from the malformation of the central nervous system. The genes responsible and their involvement in causing neural tube defects in humans are poorly understood. Gene expression analysis in a whole organism enables the identification of the possible role of the gene being studied. If the gene is expressed in a particular tissue at a certain period of development, this spatiotemporal pattern of the gene of interest signals the possibility that the gene serves a function of being switched on in those tissues at that particular time. In this report, we have identified possible gene candidates in the mouse which may be required for the development of the neural tube, the precursor to the brain and the spinal cord. Development of the brain occurs by closure of the anterior neuropore (forms the cranial neural tube) while the spinal cord forms due to resolution of the posterior neuropore (forms the caudal neural tube). The genes Tiaml and T-cadherin were found to be likely candidate genes for the development of the spinal cord and may serve as potential human NTDs genes.
    Matched MeSH terms: Neural Tube Defects
  6. Fulltext Surgical Management of Large Occipital Encephalocoele: a case report
    Sim SK, Theophilus SC, Noor Azman AR
    International Medical Journal Malaysia, 2014;13(2):59-62.
    MyJurnal
    Cranium dysraphism occur less commonly than spinal dysraphism. Overall, occipital encephalocoeles are more frequent than anterior encephalocoes. A large occipital encephalocoele possess difficulty in surgical intervention, not only the sac contains large amount of herniated brain tissue, but the appropriate positioning for successful intubation as well as the higher rate of surgical complications such as cerebrospinal fluid leakage and skin necrosis. In this case report, surgical management of large occipital encephalocoele is discussed. The use of antibiotics in ruptured encephalocoele is recommended.
    Matched MeSH terms: Neural Tube Defects
  7. Neural tube defects in Malaysia: data from the Malaysian National Neonatal Registry
    Boo NY, Cheah IG, Thong MK, Malaysian National Neonatal Registry
    J Trop Pediatr, 2013 Oct;59(5):338-42.
    PMID: 23583959 DOI: 10.1093/tropej/fmt026
    This study aimed to determine the prevalence and early outcome of neural tube defects (NTDs) in Malaysia. This prospective study included all neonates with NTDs (spina bifida, anencephaly, encephalocoele) born in 2009 in 32 Malaysian hospitals in the Malaysian National Neonatal Network. The prevalence of NTDs was 0.42 per 1000 live births, being highest among the indigenous people of Sarawak (1.09 per 1000 live births) and lowest among Malaysians of Chinese descent (0.09 per 1000 live births). The most common type of NTDs was anencephaly (0.19 per 1000 live births), followed by spina bifida (0.11 per 1000 live births) and encephalocoele (0.07 per 1000 live births). Majority of the infants with anencephaly (94.5%, n = 51), 45.8% (n = 11) with encephalocoele and 9.5% (n = 4) with spina bifida died. The median duration of hospital stay was 4 (range: 0-161) days.
    Matched MeSH terms: Neural Tube Defects/epidemiology*
  8. Fulltext MTHFR C677T polymorphism as a risk factor of neural tube defects in Malay: a case control study
    Hayati AR, Zainal AI, Tan GC, Ong LC, Khoo TB
    Med J Malaysia, 2008 Dec;63(5):379-83.
    PMID: 19803295 MyJurnal
    Major congenital malformations occur in about 3% of newborn. Several studies have suggested that homozygosity for the C677T methylenetetrahydrofolate reductase (MTHFR) variant is a potential risk factor for neural tube defects (NTDs). It has been hypothesized that the maternal folic acid supplementation prevents NTDs by partially correcting reduced MTHFR activity associated with the variant form of the enzyme. This association has not been found in some ethnic groups. In this study, we attempted to assess the association between NTDs and MTHFR C677T in Malaysian Malay population. Results show that MTHFR 677TT genotype was absent in both patient and control groups.
    Matched MeSH terms: Neural Tube Defects/genetics*
  9. Fulltext Acute angle closure glaucoma resulting from myelodysplasia
    Ang GS, Tey A, Ng WS, Subrayan V
    Med J Malaysia, 2007 Aug;62(3):259-60.
    PMID: 18246923
    Patients with bleeding diatheses can present in a variety of clinical situations. When these patients manifest with ocular complications, their management can be challenging. We describe a case of acute angle closure glaucoma secondary to subretinal haemorrhage, with myelodysplasia as a predisposing factor.
    Matched MeSH terms: Neural Tube Defects/complications*
  10. Fulltext Folic acid in the prevention of neural tube defect--a programme for Malaysia?
    Ho JJ
    Med J Malaysia, 2004 Mar;59(1):94-9.
    PMID: 15535342
    There is good evidence that folic acid is safe and efficacious for reducing neural tube defect (NTD). All women capable of becoming pregnant should take 400 microgram daily. This can be given in the form of a daily vitamin supplement, by food fortification, or by increasing natural dietary folates. Compulsory grain fortification has been shown to reduce NTD in a population but supplementation and dietary advice have not. Malaysia should work towards a programme of grain fortification and use alternative strategies to reach sections of the population that would not be covered but several research questions need to be answered before a programme could be implemented in Malaysia.
    Matched MeSH terms: Neural Tube Defects/prevention & control*
  11. Amniocentesis for antenatal diagnosis of chromosomal abnormalities and neural tube defects
    Singh P
    Med J Malaysia, 1979 Jun;33(4):311-6.
    PMID: 93235
    Matched MeSH terms: Neural Tube Defects/diagnosis*
  12. Predicting Down syndrome and neural tube defects using basic risk factors
    Khattak MT, Supriyanto E, Aman MN, Al-Ashwal RH
    Med Biol Eng Comput, 2019 Jul;57(7):1417-1424.
    PMID: 30877513 DOI: 10.1007/s11517-019-01969-0
    Congenital anomalies are not only one of the main killers for infants but also one of the major causes of deaths under 5. Among congenital anomalies, Down syndrome or trisomy 21 (T-21) and neural tube defects (NTDs) are considered the most common. Expectant mothers in developing countries may not have access to or may not afford the advanced prenatal screening tests. To solve this issue, this paper explores the practicality of using only the basic risk factors for developing prediction models as a tool for initial risk assessment. The prediction models are based on logistic regression. The results show that the prediction models do not have a high balanced classification rate. However, these models can still be used as an effective tool for initial risk assessment for T-21 and NTDs by eliminating at least 50% of the cases with no or low risk. Graphical Abstract Prenatal Risk Assessment of Trisomy-21 and Neural Tube Defects.
    Matched MeSH terms: Neural Tube Defects/etiology*
  13. Fulltext Cranial neural tube defect after trimethoprim exposure
    Abdullah NL, Gunasekaran R, Mohd-Zin SW, Lim BH, Maniam P, Mohd-Salleh AS, et al.
    BMC Res Notes, 2018 Jul 16;11(1):475.
    PMID: 30012199 DOI: 10.1186/s13104-018-3593-1
    OBJECTIVES: The Neural Tube Defects Research Group of University of Malaya was approached to analyze a tablet named TELSE, which may have resulted in a baby born with central nervous system malformation at the University of Malaya Medical Centre. In this animal experimental study, we investigated the content of TELSE and exposure of its contents that resulted in failure of primary neurulation.

    RESULTS: Liquid Chromatography Tandem Mass spectrophotometry analysis of the TELSE tablet confirmed the presence of trimethoprim as the active compound. The TELSE tablet-treated females produced significant numbers of embryos with exencephaly (n = 8, 36.4%, *P 

    Matched MeSH terms: Neural Tube Defects/chemically induced*
  14. Fulltext A rare case of neurenteric cyst of spinal cord with thoracic vertebra fusion successfully managed with spinal cyst excision and posterior instrumentation surgery
    Tan Jih Huei, Henry Tan Chor Lip, Chan Chee Kong, Ariz Chong B. Abdullah@Chong Chee Yong, Noor Azman Bin A. Rahman
    Malaysian Journal of Medicine and Health Sciences, 2020;16(2):348-350.
    MyJurnal
    The incidence of neurenteric cyst (NC) is rare amongst spine tumors. It is most often asymptomatic but may present
    with sensory and motor symptoms. When associated with thoracic vertebra fusion it is not reported before, this complicates the placement of pedicle screw during posterior instrumentation. Herein, we report a case of thoracic spinal
    neurenteric cyst in a 40-year-old man that presents with chronic back pain, left lower limb weakness and numbness.
    Elective excision of NC over T6-T7 with laminectomy and multilevel posterior instrumentation was successfully
    performed with significant improvement of the symptoms. Neurenteric cyst is a rare spinal cord lesion which may
    cause permanent neurological sequalae. Complete surgical excision with spine fixation in this case provides good
    long-term outcome.
    Matched MeSH terms: Neural Tube Defects
  15. Fulltext A Novel Occulta-Type Spina Bifida Mediated by Murine Double Heterozygotes EphA2 and EphA4 Receptor Tyrosine Kinases
    Abdullah NL, Mohd-Zin SW, Ahmad-Annuar A, Abdul-Aziz NM
    Front Cell Dev Biol, 2017;5:105.
    PMID: 29312933 DOI: 10.3389/fcell.2017.00105
    Members of the Eph receptor tyrosine kinase have previously been implicated in cranial neural tube development. Failure of neural tube closure leads to the devastating conditions known as anencephaly and spina bifida. EphA2 and EphA4 are expressed at the tips of the closing spinal neural folds prior and during neural tube closure. We investigated the possible role of murine EphA2 and EphA4 during the last step of primary neural tube closure, which is adhesion and fusion. The individual mouse knockouts of EphA2 and EphA4 per se do not exhibit neural tube defects (NTDs). The embryos generated by the crossing of double heterozygotes Epha2tm1Jrui/+Epha4rb-2J/+ displayed NTDs with a wide degree of severity including close exencephaly and close spina bifida (spina bifida occulta). Interestingly, mutants displaying NTDs had skin covering the underlying lesion. The tissue sections revealed the elevated neural folds had not adhered and fused. The phenotypes seen in Epha2tm1Jrui/+Epha4rb-2J/+ double heterozygous embryos suggest both genes play a compensatory role with each other in the adhesion and fusion of the neural tube. In this study, there exists a >50% penetrance of NTDs in the mouse mutants, which genetically have a single allele each of EphA2 and EphA4 absent.
    Matched MeSH terms: Neural Tube Defects
  16. Fulltext Dietary and blood folate status of Malaysian women of childbearing age
    Khor GL, Duraisamy G, Loh SP, Green T
    Asia Pac J Clin Nutr, 2006;15(3):341-9.
    PMID: 16837426
    The protective role of folic acid taken during the periconceptual period in reducing the occurrence of neural tube defects (NTD) has been well documented by epidemiological evidence, randomized controlled trials and intervention studies. Much of the evidence is derived from western populations while similar data on Asian subjects is relatively nascent. Baseline data on folate status of Malaysian women is lacking, while NTD prevalence is estimated as 10 per 10,000 births. This study was conducted with the objective of determining the dietary and blood folate status of Malaysian women of childbearing age. A total of 399 women comprising 140 Malay, 131 Chinese and 128 Indian subjects were recruited from universities and worksites in the suburbs of Kuala Lumpur. Inclusion criteria were that the subjects were not pregnant or breastfeeding, not taking folic acid supplements, not habitual drinkers or smokers. Based on a 24-hour recall, the median intake level for folate was 66 microg (15.7-207.8 microg), which amounts to 16.5% of the Malaysian Recommended Nutrient Intakes level. The median (5-95th percentiles) values for plasma and red cell folate (RBC) concentrations were 11 (4-33) nmol/L and 633 (303-1209) nmol/L respectively. Overall, nearly 15.1% showed plasma folate deficiency (< 6.8 nmol/L), with Indian subjects having the highest prevalence (21.5%). Overall prevalence of RBC folate deficiency (<363 nmol/L) was 9.3%, and an almost similar level prevailed for each ethnic group. Only 15.2% had RBC concentration exceeding 906 nmol/L, which is associated with a very low risk of NTD. The result of this study point to the need for intervention strategies to improve the blood folate status of women of childbearing age, so that they have adequate protection against the occurrence of NTD at birth.
    Matched MeSH terms: Neural Tube Defects/epidemiology
  17. Fulltext ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome
    Zak J, Vives V, Szumska D, Vernet A, Schneider JE, Miller P, et al.
    Cell Death Differ, 2016 Dec;23(12):1973-1984.
    PMID: 27447114 DOI: 10.1038/cdd.2016.76
    Chromosomal abnormalities are implicated in a substantial number of human developmental syndromes, but for many such disorders little is known about the causative genes. The recently described 1q41q42 microdeletion syndrome is characterized by characteristic dysmorphic features, intellectual disability and brain morphological abnormalities, but the precise genetic basis for these abnormalities remains unknown. Here, our detailed analysis of the genetic abnormalities of 1q41q42 microdeletion cases identified TP53BP2, which encodes apoptosis-stimulating protein of p53 2 (ASPP2), as a candidate gene for brain abnormalities. Consistent with this, Trp53bp2-deficient mice show dilation of lateral ventricles resembling the phenotype of 1q41q42 microdeletion patients. Trp53bp2 deficiency causes 100% neonatal lethality in the C57BL/6 background associated with a high incidence of neural tube defects and a range of developmental abnormalities such as congenital heart defects, coloboma, microphthalmia, urogenital and craniofacial abnormalities. Interestingly, abnormalities show a high degree of overlap with 1q41q42 microdeletion-associated abnormalities. These findings identify TP53BP2 as a strong candidate causative gene for central nervous system (CNS) defects in 1q41q42 microdeletion syndrome, and open new avenues for investigation of the mechanisms underlying CNS abnormalities.
    Matched MeSH terms: Neural Tube Defects/pathology
  18. Fulltext Knowledge and perception regarding prenatal genetic screening of thalassemia, down syndrome and neural tube defects: a study among IIUM Kuantan undergraduates
    Nur Sajidah Sulaiman, Norafiza Zainuddin
    Malaysian Journal of Public Health Medicine, 2018;18(1):0-0.
    MyJurnal
    Prenatal genetic screening is offered during pregnancy to detect foetuses that have certain diseases. It is widely used in the detection of congenital malformation which results in foetal birth defects. Unawareness of the society on the importance of prenatal genetic testing contributes to the increase in the birth defect rate.Future parents should be exposed with the importance in performing prenatal genetic screening.The purpose of this study was to examine the knowledge and perception level of International Islamic University Malaysia (IIUM) Kuantan students regarding prenatal genetic screening thalassemia, Down syndrome and neural tube defects.This is a cross-sectional study whereby192 respondents were selected using convenience sampling method. A set of close-ended questionnaire was distributed among students in IIUM Kuantan. Independent t-test, parametric test (One- Way ANOVA test), non-parametric test (Mann-Whitney test) and correlation coefficient(Pearson) were used to find all related factors influencing knowledge and perception and to find association between knowledge and perception of IIUM Kuantan students.From this study, it was found that the level of knowledge and perception of IIUM Kuantan students regarding prenatal genetic screening of thalassemia, Down syndrome and neural tube defects was relatively high. Married students hada betterknowledge compared to unmarriedstudents (p=0.008). Moreover, students from Kulliyyah (Faculty) of Medicine had adequate level of knowledge (p
    Matched MeSH terms: Neural Tube Defects
  19. Achieving the targets of sustainable development goals (2030 agenda) for congenital disorders in Asia: Bottlenecks and interventions
    Thong MK
    Am J Med Genet C Semin Med Genet, 2019 06;181(2):254-261.
    PMID: 30801969 DOI: 10.1002/ajmg.c.31690
    The United Nations General Assembly adopted the 2030 Agenda for Sustainable Development in November 2015 which included a set of 17 measurable "sustainable development goals" (SDGs). The SDGs included targets to end preventable deaths of newborns and children under 5 years of age by 2030, universal health care coverage, reduction of premature mortality from noncommunicable diseases (NCDs) by 33% as well as support the development and research for medicines for both communicable and NCDs. Although some successes were achieved in combating communicable diseases and improved childhood mortality rates, health systems in Asia are generally characterized by lack of accurate epidemiological information on congenital disorders, lack of human and financial resources, and inadequate focus on public health strategies to ensure targeted interventions, low level knowledge on congenital disorders amongst the community and healthcare providers and the ethical dilemma of managing rare congenital disorders in an environment of low national health expenditures. These bottlenecks must be addressed systematically and interventions such as the use of innovative epidemiological tools to overcome lack of data, increased efforts to standardize rare disease nomenclature and classification and renewed interest in birth defects registries by countries in the region must be considered. Targeted curative and public health approaches currently used in thalassaemia and neural tube defects may be used for other congenital disorders in Asian countries. The implementation of congenital disorders-related research, prevention, care, and treatment delivery services must be integrated into existing health systems in order to be effective to achieve the targets of SDG2030.
    Matched MeSH terms: Neural Tube Defects
  20. Fulltext Association between dietary folate intake and blood status of folate and homocysteine in Malaysian adults
    Chew SC, Khor GL, Loh SP
    J Nutr Sci Vitaminol (Tokyo), 2011;57(2):150-5.
    PMID: 21697634 DOI: 10.3177/jnsv.57.150
    Folate is of prime interest among investigators in nutrition due to its multiple roles in maintaining health, especially in preventing neural tube defects and reducing the risk of cardiovascular diseases. We investigated the effect of dietary folate intake on blood folate, vitamin B(12), vitamin B(6), and homocysteine status. One hundred subjects consisting of Chinese and Malay subjects volunteered to participate in this cross-sectional study. Dietary folate intake was assessed by 24-h dietary recall and a food-frequency questionnaire (FFQ). Serum and red blood cell folate were analyzed using a microbiological assay, while serum vitamin B(12) was determined by electrochemiluminescence immunoassay (ECLIA), and high-performance liquid chromatography (HPLC) was used for the determination of serum vitamin B(6) and homocysteine. The mean folate intake, serum folate, RBC folate, serum vitamin B(12), and B(6), were higher in female subjects, with the exception of serum homocysteine. The Chinese tended to have higher folate intake, serum folate, RBC folate, and vitamin B(12). A positive association was found between folate intake and serum folate while a negative association was found between folate intake and serum homocysteine. Stepwise linear regression of serum folate showed a significant positive coefficient for folate intake whilst a significant negative coefficient was found for serum homocysteine when controlling for age, gender, and ethnicity. In conclusion, high dietary folate intake helps to increase serum folate and to lower the homocysteine levels.
    Matched MeSH terms: Neural Tube Defects/prevention & control
Related Terms
Filters
Contact Us

Please provide feedback to Administrator (afdal@afpm.org.my)

External Links