Displaying publications 41 - 60 of 72 in total

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  1. Congenital atresia and stenosis of the duodenum--a case report
    Lal M, Said MY
    Med J Malaysia, 1974 Jun;28(4):283-6.
    PMID: 4278623
    Matched MeSH terms: Down Syndrome/complications
  2. 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: Down Syndrome/etiology*
  3. Fulltext Expression Profiling of Notch Signalling Pathway and Gamma-Secretase Activity in the Brain of Ts1Cje Mouse Model of Down Syndrome
    Yusof HH, Lee HC, Seth EA, Wu X, Hewitt CA, Scott HS, et al.
    J Mol Neurosci, 2019 Apr;67(4):632-642.
    PMID: 30758748 DOI: 10.1007/s12031-019-01275-2
    Notch signalling pathway is involved in the proliferation of neural progenitor cells (NPCs), to inhibit neuronal cell commitment and to promote glial cell fate. Notch protein is cleaved by gamma-secretase, a multisubunit transmembrane protein complex that releases the Notch intracellular domain (NICD) and subsequently activates the downstream targets. Down syndrome (DS) individuals exhibit an increased number of glial cells (particularly astrocytes), and reduced number of neurons suggesting the involvement of Notch signalling pathway in the neurogenic-to-gliogenic shift in DS brain. Ts1Cje is a DS mouse model that exhibit similar neuropathology to human DS individuals. To date, the spatiotemporal gene expression of the Notch and gamma-secretase genes have not been characterised in Ts1Cje mouse brain. Understanding the expression pattern of Notch and gamma-secretase genes may provide a better understanding of the underlying mechanism that leads to the shift. Gene expression analysis using RT-qPCR was performed on early embryonic and postnatal development of DS brain. In the developing mouse brain, mRNA expression analysis showed that gamma-secretase members (Psen1, Pen-2, Aph-1b, and Ncstn) were not differentially expressed. Notch2 was found to be downregulated in the developing Ts1Cje brain samples. Postnatal gene expression study showed complex expression patterns and Notch1 and Notch2 genes were found to be significantly downregulated in the hippocampus at postnatal day 30. Results from RT-qPCR analysis from E15.5 neurosphere culture showed an increase of expression of Psen1, and Aph-1b but downregulation of Pen-2 and Ncstn genes. Gamma-secretase activity in Ts1Cje E15.5 neurospheres was significantly increased by fivefold. In summary, the association and the role of Notch and gamma-secretase gene expression throughout development with neurogenic-to-gliogenic shift in Ts1Cje remain undefined and warrant further validation.
    Matched MeSH terms: Down Syndrome/metabolism*
  4. Fulltext Prevalence of chromosomal anomalies of the mentally retarded--report of a study of 124 institutionalised children in Kuala Lumpur
    Noor PJ, Chin YM, Ten SK, Hassan K
    Singapore Med J, 1987 Jun;28(3):235-40.
    PMID: 2958941
    A cytogenetic survey 01 124 children in lour special schools for the mentally handicapped was carried out to determine the contribution of chromosomal abnormalities to the aetiology of mental retardation in these children. All the children were karyotyped employing the G·banding technique 01 43 (34.7%) with an abnormal chromosome complement, 40 had Down's Syndrome, and 3 had other chromosomal abnormalities, namely a translocation 1;17, a mosaic male/trisomy 18 and a Klinefelter's syndrome. Polymorphic variants involving chromosomes 1, 9, and 14 were also observed. Two other children showed variants of the Y chromosome (one a small Y and the other a metacentric Y). The possible contribution by these abnormal variants to mental retardation is discussed. Details of the abnormal cytogenetic findings are reported.
    Matched MeSH terms: Down Syndrome/epidemiology*
  5. Predictors of parenting stress among Malaysian mothers of children with Down syndrome
    Norizan A, Shamsuddin K
    J Intellect Disabil Res, 2010 Nov;54(11):992-1003.
    PMID: 20868445 DOI: 10.1111/j.1365-2788.2010.01324.x
    Having children with intellectual disability can be stressful for most parents. Currently there are very few studies focusing on parenting stress among mothers of children with Down syndrome (DS) in Asia. The present study examined the level of parenting stress experienced by Malaysian mothers of children with DS and evaluated the child and maternal factors that contributed to parenting stress based on Hill's ABC-X Model (Hill 1949).
    Matched MeSH terms: Down Syndrome/ethnology*; Down Syndrome/psychology*
  6. Cytogenetic profile of patients with clinical spectrum of ambiguous genitalia, amenorrhea, and Turner phenotype: A 21-year single-center experience
    Elkarhat Z, Belkady B, Charoute H, Zarouf L, Razoki L, Aboulfaraj J, et al.
    Am J Med Genet A, 2019 08;179(8):1516-1524.
    PMID: 31207162 DOI: 10.1002/ajmg.a.61257
    The aim of the present study was to determine the frequency and nature of chromosomal abnormalities involved in patients with the clinical spectrum of ambiguous genitalia (AG), amenorrhea, and Turner phenotype, in order to compare them with those reported elsewhere. The study was conducted in the Cytogenetic Department of Pasteur Institute of Morocco, and it reports on the patients who were recruited between 1996 and 2016. Cytogenetic analysis was performed according to the standard method. Among 1,415 patients, chromosomal abnormalities were identified in 7.13% (48/673) of patients with AG, 17.39% (28/161) of patients with primary amenorrhea (PA), 4% (1/25) of patients with secondary amenorrhea, and 23.20% (129/556) of patients with Turner phenotype. However, Turner syndrome was diagnosed in 0.89% (6/673) of patients with AG, 10.56% (17/161) of patients with PA, and 19.78% (110/556) of patients with Turner phenotype. In addition, Klinefelter syndrome and mixed gonadal dysgenesis were confirmed in 2.97% and 1.93% of patients, respectively, with AG, while, chimerism, trisomy 8, and trisomy 13 were confirmed only in 0.15% each. Trisomy 21 was confirmed in patients with AG and Turner phenotype (0.15% and 0.36%, respectively). Moreover, 5.60% (9/161) of patients with PA have been diagnosed as having sex reversal. Thus, the frequency of chromosomal abnormalities observed in Moroccan patients with PA is comparable to that reported in Tunisia, Turkey, Iran, and Hong Kong. However, the frequency is significantly less than that identified in India, Malaysia, Italy, and Romania.
    Matched MeSH terms: Down Syndrome/genetics; Down Syndrome/epidemiology; Down Syndrome/pathology
  7. The α5-Containing GABAA Receptors-a Brief Summary
    Mohamad FH, Has ATC
    J Mol Neurosci, 2019 Feb;67(2):343-351.
    PMID: 30607899 DOI: 10.1007/s12031-018-1246-4
    GABAA receptors are the major inhibitory neurotransmitter receptor in the human brain. The receptors are assembled from combination of protein subunits in pentameric complex which may consist of α1-6, β1-3, γ1-3, ρ1-3, δ, ε, θ, or π subunits. There are a theoretical > 150,000 possible assemblies and arrangements of GABAA subunits, although only a few combinations have been found in human with the most dominant consists of 2α1, 2β2, and 1γ2 in a counterclockwise arrangement as seen from the synaptic cleft. The receptors also possess binding sites for various unrelated substances including benzodiazepines, barbiturates, and anesthetics. The α5-containing GABAARs only make up ≤ 5% of the entire receptor population, but up to 25% of the receptor subtype is located in the crucial learning and memory-associated area of the brain-the hippocampus, which has ignited myriads of hypotheses and theories in regard to its role. As well as exhibiting synaptic phasic inhibition, the α5-containing receptors are also extrasynaptic and mediate tonic inhibition with continuously occurring smaller amplitude. Studies on negative-allosteric modulators for reducing this tonic inhibition have been shown to enhance learning and memory in neurological disorders such as schizophrenia, Down syndrome, and autism with a possible alternative benzodiazepine binding site. Therefore, a few α5 subunit-specific compounds have been developed to address these pharmacological needs. With its small population, the α5-containing receptors could be the key and also the answer for many untreated cognitive dysfunctions and disorders.
    Matched MeSH terms: Down Syndrome
  8. Attitude of parents towards their handicapped children
    Nyi, Nyi Naing, Zabidi Azhar Mohd Hussin, Nawaz Hussin, Menaga, M., Aw Linda, Raihan, S., et al.
    Malaysian Journal of Child Health, 1997;9(1):88-92.
    MyJurnal
    A sample of 204 handicapped children below 12 years of age consisting of 121(59.3%) males and 83 (40.7%) females who were classified into various types of mental and physical handicaps, were surveyed in April and May 1996. The majority of those with mental handicaps were Down Syndrome while those with cerebral palsy were the mostfrequent cause of physical handicaps. A structured questionnaire was used for interviewing the children parents to evaluate their attitude towards their handicapped children. The majority of the parents expressed their opinions that having handicapped children was not a burden to them although these children had to be given more attention. However, a significant minority felt that the child would be afinancial burden to the family and that he/she would restrict the social life of the family. The majority of the children were sent to school, as parents felt it was their duty to do so. For those children not attending school, the majority of parents felt that the children would not benefit by going. The others could not do so because offinancial constraints or because of the distance between home and school. For these children, provid-ing hostel facilities in a boarding school could be the answer. This study shows that parental love and support plays a major role in ensuring optimal growth and development of a handicapped child
    Matched MeSH terms: Down Syndrome
  9. Prognostic factors associated with survival of patients with ventricular septal defect
    Suhaimi Hussain, Wong A. Rahim, Ibrahim W. Pauzi W., Naing, N.N.
    Malaysian Journal of Paediatrics and Child Health, 2007;15(1):16-23.
    MyJurnal
    Introduction: There are many factors that determine the survival of patients with VSD. Among these include size of VSD, position, pulmonary hypertension, bacterial sepsis, valvular involvement, associated anomalies with VSD, associated syndromes and age at first diagnosis. There has been no published local data as far as we know and this information will be useful especially for consultation with parents. Even though VSD in general has a good prognosis, whenever they have added risks for example pulmonary hypertension then they are at risk of further morbidity and mortality. Objective: To determine the factors that are associated with survival of patients with VSD. Design: Retrospective cohort. Materials and methods: All cases of isolated VSDs admitted to HUSM from 1996 to 2003 were reviewed. Results: Univariate Cox regression of survival time of patients with VSDs revealed that 4 factors had prognostic significance namely bacterial sepsis (HR= 287.7, 95% CI 51.1, 1618.5, P < 0.001), Down syndrome (HR = 14.89, 95% CI 3.00, 73.92, P = 0.001), pulmonary hypertension (HR=14.58, 95% CI 1.69, 125.7, P=0.015) and large VSDs (HR=8.23, 95% CI 1.5, 45, P=0.015). Bacterial sepsis was the only significant prognostic factors for the survival of patients with VSDs using the multivariate Cox proportional hazard model. Conclusion: Bacterial sepsis, pulmonary hypertension, large VSD and Down syndrome were the significant prognostic factors from Univariate Cox analysis, however bacterial sepsis was the only significant prognostic factor from Multivariate Cox analysis.
    Matched MeSH terms: Down Syndrome
  10. Progressive pulmonary vein stenosis in Down syndrome infant: a rare cause of pulmonary hypertension
    Norazah Z, Joyce Darshinee DS
    Med J Malaysia, 2018 04;73(2):119-120.
    PMID: 29703879 MyJurnal
    Pulmonary veins stenosis in a Down Syndrome infant with normal connection pulmonary vein is rare and precise incidence of this disease is unknown. We report a case of progressive multiple pulmonary vein stenosis in a Down Syndrome infant with congenital heart disease and transient myeloproliferative leukaemia. This case-report aims to improve awareness among physicians and sonographers of this disease and the importance of pulmonary vein assessment in congenital heart disease with unexplained pulmonary hypertension.
    Matched MeSH terms: Down Syndrome
  11. Fulltext Defects in nerve conduction velocity and different muscle fibre-type specificity contribute to muscle weakness in Ts1Cje Down syndrome mouse model
    Bala U, Leong MP, Lim CL, Shahar HK, Othman F, Lai MI, et al.
    PLoS One, 2018;13(5):e0197711.
    PMID: 29795634 DOI: 10.1371/journal.pone.0197711
    BACKGROUND: Down syndrome (DS) is a genetic disorder caused by presence of extra copy of human chromosome 21. It is characterised by several clinical phenotypes. Motor dysfunction due to hypotonia is commonly seen in individuals with DS and its etiology is yet unknown. Ts1Cje, which has a partial trisomy (Mmu16) homologous to Hsa21, is well reported to exhibit various typical neuropathological features seen in individuals with DS. This study investigated the role of skeletal muscles and peripheral nerve defects in contributing to muscle weakness in Ts1Cje mice.

    RESULTS: Assessment of the motor performance showed that, the forelimb grip strength was significantly (P<0.0001) greater in the WT mice compared to Ts1Cje mice regardless of gender. The average survival time of the WT mice during the hanging wire test was significantly (P<0.0001) greater compared to the Ts1Cje mice. Also, the WT mice performed significantly (P<0.05) better than the Ts1Cje mice in the latency to maintain a coordinated motor movement against the rotating rod. Adult Ts1Cje mice exhibited significantly (P<0.001) lower nerve conduction velocity compared with their aged matched WT mice. Further analysis showed a significantly (P<0.001) higher population of type I fibres in WT compared to Ts1Cje mice. Also, there was significantly (P<0.01) higher population of COX deficient fibres in Ts1Cje mice. Expression of Myf5 was significantly (P<0.05) reduced in triceps of Ts1Cje mice while MyoD expression was significantly (P<0.05) increased in quadriceps of Ts1Cje mice.

    CONCLUSION: Ts1Cje mice exhibited weaker muscle strength. The lower population of the type I fibres and higher population of COX deficient fibres in Ts1Cje mice may contribute to the muscle weakness seen in this mouse model for DS.

    Matched MeSH terms: Down Syndrome/complications; Down Syndrome/metabolism; Down Syndrome/pathology*
  12. Fulltext Perceived stress among malay caregivers of children with learning disabilities in Kelantan
    Siti Nor Ismalina Isa, Nur Zakiah Mohd Saat, Syarif Husin Lubis, Muhammad Faiz Mohd Ismail, Ismarulyusda Ishak
    Jurnal Sains Kesihatan Malaysia, 2016;14(2):69-77.
    MyJurnal
    Parents or caregivers of children with learning disabilities have been shown to experience increases in stress and greater negative caregiving consequences than those with typically developing children. The current study sought to assess the perceived stress among Malay caregivers of children with learning disabilities in Kelantan. The Malay version of Perceived Stress Scale 10 items was administered to a sample of 40 caregivers of children with learning disabilities who were registered to five Pusat Pemulihan Dalam Komuniti (PDK) in Kelantan. Higher scores indicate higher levels of stress. The caregivers had mean age of 47.68 (SD = 9.18) years old, of whom 90% were fathers or mothers. Ninety percent of them were married, majority were unemployed or housewives and had secondary school education. The majority of children with learning disabilities were males and half of them were Down Syndrome children. The mean total Perceived Stress Scale score of the caregivers was 16.77 (SD = 5.74). There were no significant associations between total perceived stress score and any of the independent variables. The mean total perceived stress score showed that the perceived stress level was in the category of slightly higher than average and health concern level was high, while the average stress level was between score of 12 to 15. In conclusion, this result indicated that the caregivers had slightly higher levels of stress than the average score, and might increase susceptibility to stress-induced illness.
    Matched MeSH terms: Down Syndrome
  13. Fulltext The challenges of nurturing autistic children from the mother’s perspective. [Cabaran membesarkan anak-anak autisme daripada perspektif ibu]
    Siti Marziah Z, Nor Shahirah Mat T
    Jurnal Psikologi Malaysia, 2018;32(1):58-71.
    The prevalence of Autism Spectrum Disorder (ASD) cases has been increasing worldwide. There are countless aspects of challenges faced by parents to bring up children with ASD. Parents of children with ASD are often reported to have higher stress in parenting compared to parents with normal children or children with other disabilities such as Down syndrome. Therefore, this study explored the challenges faced by mothers of children with ASD. Mothers whom were selected are the primary guardians and spend a lot of time nurturing these children. This qualitative study involved in-depth interviews with five (5) informants in Selangor. The thematic analysis identified the challenges faced by the mothers of children with ASD, which are the aspects of behavioral, financial and community acceptance. The findings showed that mothers to children with ASD encountered numerous complicated challenges which require the support of all parties to address those challenges. High support and compassionate understanding are really needed from the spouse, normal children, local communities, and government to alleviate their difficulties. Thus, the findings of this study hopefully will help various parties to understand the challenges faced by the mothers of children with ASD. It can also be the guiding principle in designing supportive programs and interventions for children with ASD as well as their parents.
    Matched MeSH terms: Down Syndrome
  14. Tumour lysis syndrome in a neonate with transient abnormal myelopoiesis
    Mohammad Khuzaini A, Mohd Baharudin JA, Md Fauzi A, Zulkeflee HA, Abdul Halim H, Mazli SK, et al.
    J Neonatal Perinatal Med, 2024;17(2):269-273.
    PMID: 38728206 DOI: 10.3233/NPM-230146
    BACKGROUND: Tumor lysis syndrome (TLS) is an oncological emergency associated with hematological malignancies or highly proliferative solid tumors, commonly after chemotherapy. It is rarely associated with transient abnormal myelopoiesis.

    OBSERVATION: We report a rare case of a neonate with transient abnormal myelopoiesis and tumor lysis syndrome, complicated with concomitant heart failure due to an underlying atrioventricular septal defect. Hyperhydration was contraindicated due to heart failure. The patient was managed conservatively with full recovery.

    CONCLUSION: Tumor lysis syndrome should be suspected in neonates with transient abnormal myelopoiesis with electrolyte abnormalities. Treatment options should be considered carefully for their risks and benefits.

    Matched MeSH terms: Down Syndrome
  15. Fulltext The Impact on Family among Down syndrome Children with Early Intervention
    Mohammed Nawi A, Ismail A, Abdullah S
    Iran J Public Health, 2013 Sep;42(9):996-1006.
    PMID: 26060660
    BACKGROUND:
    Child with Down's syndrome is an individual who is suitable and eligible to receive early intervention services. This study aimed to measure the family outcome among parents of Down syndrome children, on the impact of receiving early intervention and identify the factors influencing it.

    METHODS:
    A cross sectional was conducted from April 2009 until January 2010 with a total of 125 parents of children with Down syndrome. There are five domains of family outcomes that has been studied which are understanding the strengths, abilities and special needs of children, knowing the rights and talk on children behalf, assisting the child to grow and learn, having a support system and be involved in the community. Children with Down syndrome aged four to 15 years was chosen as the respondents when they were accompanying their children in seven rehabilitation centers or during house visits.

    RESULTS:
    Family outcomes among parents of Down syndrome children who receive early intervention is better, 67.3 percent, compared to parents of Down syndrome children who receive late intervention, 41.4 percent. There are significant relationship between the acceptance level of intervention, parents education level, family income and the family outcomes. Parents of children who receive early intervention were more positive in understanding the strengths, abilities and special needs of their children compared to other family outcomes.

    CONCLUSION:
    Families whom children received early intervention had indirectly proved the importance and benefit of early intervention, not only for children with special needs, but for their family as well.

    KEYWORDS:
    Down syndrome children; intervention; special needs
    Matched MeSH terms: Down Syndrome
  16. Fulltext Audit of birth defects in 34,109 deliveries in a tertiary referral center
    Noraihan MN, See MH, Raja R, Baskaran TP, Symonds EM
    Med J Malaysia, 2005 Oct;60(4):460-8.
    PMID: 16570708
    The objective of the study is to determine the proportion and different types of birth defects among the children born in Hospital Kuala Lumpur. A cross-sectional study was conducted for a period of 18 months where all consecutively born infants, dead or alive were included. There were total of 34,109 births recorded during this period. The proportion of birth defects in Hospital Kuala Lumpur was 3.1% (n = 1056). The commonest involved were the hematology system, (157.7 per 10,000 births), the central nervous system, genitourinary system and chromosomal anomalies. The proportion was significantly higher in males and in the Chinese (p < 0.001). The commonest abnormalities are Glucose 6 Phosphate Deficiency (157.7/10000), Down's syndrome (12.6/10000), thalassaemia (8.8/10000), cleft lip and/or palate (7.6/10000) and anencephaly (7.3/10000). Neural tube defect is common and ranked second after G6PD deficiency. There is a need for a birth defect registry to assess the extent of the problem in Malaysia.
    Matched MeSH terms: Down Syndrome/epidemiology
  17. Trisomy 21 and hydrops fetalis: parvovirus B19 or transient abnormal myelopoiesis?
    Tan LN, Cheung KW, Kilby MD
    J Obstet Gynaecol, 2019 May;39(4):556-557.
    PMID: 30634881 DOI: 10.1080/01443615.2018.1530740
    Matched MeSH terms: Down Syndrome/diagnosis*
  18. Dental care access among individuals with Down syndrome: a Malaysian scenario
    Abdul Rahim FS, Mohamed AM, Marizan Nor M, Saub R
    Acta Odontol Scand, 2014 Nov;72(8):999-1004.
    PMID: 25029211 DOI: 10.3109/00016357.2014.936036
    The purpose of this cross-sectional study was to assess the legal representatives' perceptions on dental care access of individuals with Down syndrome (DS) compared to their non-DS siblings in Peninsular Malaysia.
    Matched MeSH terms: Down Syndrome/complications*
  19. Fulltext Ocular findings in Malaysian children with Down syndrome
    Liza-Sharmini AT, Azlan ZN, Zilfalil BA
    Singapore Med J, 2006 Jan;47(1):14-9.
    PMID: 16397715
    Down syndrome was first described as Mongoloid children with European parentage. Although their facial features resemble Orientals or Asians, ocular findings have not been well-documented in Asians, especially Malaysians. Our aim was to identify the ocular findings of Malaysian children with Down syndrome.
    Matched MeSH terms: Down Syndrome/ethnology*
  20. The Potential Role of miRNAs as Predictive Biomarkers in Neurodevelopmental Disorders
    Juvale IIA, Che Has AT
    J Mol Neurosci, 2021 Jul;71(7):1338-1355.
    PMID: 33774758 DOI: 10.1007/s12031-021-01825-7
    Neurodevelopmental disorders are defined as a set of abnormal brain developmental conditions marked by the early childhood onset of cognitive, behavioral, and functional deficits leading to memory and learning problems, emotional instability, and impulsivity. Autism spectrum disorder, attention-deficit/hyperactivity disorder, Tourette syndrome, fragile X syndrome, and Down's syndrome are a few known examples of neurodevelopmental disorders. Although they are relatively common in both developed and developing countries, very little is currently known about their underlying molecular mechanisms. Both genetic and environmental factors are known to increase the risk of neurodevelopmental disorders. Current diagnostic and screening tests for neurodevelopmental disorders are not reliable; hence, individuals with neurodevelopmental disorders are often diagnosed in the later stages. This negatively affects their prognosis and quality of life, prompting the need for a better diagnostic biomarker. Recent studies on microRNAs and their altered regulation in diseases have shed some light on the possible role they could play in the development of the central nervous system. This review attempts to elucidate our current understanding of the role that microRNAs play in neurodevelopmental disorders with the hope of utilizing them as potential biomarkers in the future.
    Matched MeSH terms: Down Syndrome/diagnosis; Down Syndrome/genetics
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