Displaying publications 1 - 20 of 71 in total

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  1. 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*
  2. Fulltext Malocclusion and orthodontic treatment need evaluated among subjects with Down syndrome using the Dental Aesthetic Index (DAI)
    Abdul Rahim FS, Mohamed AM, Nor MM, Saub R
    Angle Orthod, 2014 Jul;84(4):600-6.
    PMID: 24417495 DOI: 10.2319/062813-480.1
    OBJECTIVE: To determine the prevalence of malocclusion and need for orthodontic treatment among persons with Down Syndrome (DS).

    MATERIALS AND METHODS: Study participants were 113 persons with DS from the selected community-based rehabilitation center who fulfilled the inclusion and exclusion criteria. Ten occlusal characteristics of the Dental Aesthetic Index (DAI) were measured on study models to determine the degree of malocclusion. A single score represented the dentofacial anomalies, determined the level of severity, and determined the need for orthodontic treatment.

    RESULTS: Crowding in the anterior maxillary and mandibular arch was the main malocclusion problems among the subjects with DS. Comparison between age group and genders revealed no significant differences in four categories of orthodontic treatment need (P > .05).

    CONCLUSION: Most of the subjects with DS (94; 83.2%) had severe and very severe malocclusion, which indicated a desirable and mandatory need for orthodontic treatment.

    Matched MeSH terms: Down Syndrome/epidemiology*
  3. Fulltext Transient abnormal myelopoiesis with life-threatening complications
    Abdul-Wahab, J., Naznin, M, Norlelawati, A.T., Amir Hamzah, A.R.
    International Medical Journal Malaysia, 2006;5(2):1-6.
    MyJurnal
    Transient abnormal myelopoiesis (TAM) occurs in approximately 10% of neonates with Down syndrome. In most cases it resolves spontaneously. Life threatening complications such as cardiopulmonary and liver diseases have been described. We present here two cases which suggest that management of TAM in selected cases will have to be more aggressive.
    Matched MeSH terms: Down Syndrome
  4. GATA1 mutations in patients with down syndrome and acute megakaryoblastic leukaemia do not always confer a good prognosis
    Ariffin H, Garcia JC, Daud SS, Ibrahim K, Aizah N, Ong GB, et al.
    Pediatr Blood Cancer, 2009 Jul;53(1):108-11.
    PMID: 19260099 DOI: 10.1002/pbc.21983
    Children with Down syndrome and acute megakaryoblastic leukemia (DS-AMKL) have been shown to have increased sensitivity to cytarabine based chemotherapy. The excellent prognosis in patients with DS-AMKL may be due to mutations in the GATA1 gene leading to reduced expression of the enzyme cytidine deaminase. This leads to a decreased ability to convert cytarabine into its inactive metabolite, resulting in high intracellular concentration of this cytotoxic agent. We report two cases of DS-AMKL with GATA1 mutations who had poor outcome. These patients had high expression levels of cytidine deaminase mRNA transcripts. We speculate that other factors can affect overall outcome in patients with DS-AMKL irrespective of the presence of GATA1 mutations.
    Matched MeSH terms: Down Syndrome/complications; Down Syndrome/drug therapy; Down Syndrome/enzymology; Down Syndrome/genetics*
  5. Fulltext Cytogenetic and clinical profile of Down syndrome in Northeast Malaysia
    Azman BZ, Ankathil R, Siti Mariam I, Suhaida MA, Norhashimah M, Tarmizi AB, et al.
    Singapore Med J, 2007 Jun;48(6):550-4.
    PMID: 17538755
    This study was designed to evaluate the karyotype pattern, clinical features and other systemic anomalies of patients with Down syndrome in Malaysia.
    Matched MeSH terms: Down Syndrome/genetics*; Down Syndrome/epidemiology; Down Syndrome/pathology*
  6. 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*
  7. Maternal age-specific incidence of Down's syndrome in Malaysian neonates
    Boo NY, Hoe TS, Lye MS, Poon PK, Mahani MC
    J Singapore Paediatr Soc, 1989;31(3-4):138-42.
    PMID: 2534718
    Over an 18 month period, 34,495 livebirths were delivered in the Kuala Lumpur Maternity Hospital. 36 neonates (1.044 per 1000 livebirths) had Down's syndrome. The observed rates of Down's syndrome per 1000 livebirths by single year intervals of maternal age were calculated. By using the discontinuous slope model, our study showed that the incidence of Down's syndrome among the Malaysian liveborns increased markedly when the maternal age exceeded 35 years. This study also suggested that the Malay mothers had increased risk of producing babies with Down's syndrome at a later age than the Chinese and the Indians. However, a larger number of babies in each racial group needs to be studied to confirm this.
    Matched MeSH terms: Down Syndrome/epidemiology*
  8. Care demands on mothers caring for a child with Down syndrome: Malaysian (Sarawak) mothers' perspectives
    Chan KG, Lim KA, Ling HK
    Int J Nurs Pract, 2015 Oct;21(5):522-31.
    PMID: 24674378 DOI: 10.1111/ijn.12275
    This paper examines the experiences of mothers caring for a child with Down syndrome in the Malaysian (Sarawak) context. Qualitative interviews were conducted with 26 biological mothers of children with Down syndrome aged 18 years and below. They were accessed through selected child health clinics, community-based rehabilitation centres and schools using purposive sampling within two regions in Sarawak, one of the two Borneo States of Malaysia. Major themes emerging within the context of care demands were children's health, developmental delays, daily needs and behaviour issues. The insights obtained into the care demands experienced by mothers of children with Down syndrome have several implications for practice by care professionals.
    Matched MeSH terms: Down Syndrome/ethnology; Down Syndrome/psychology; Down Syndrome/therapy*
  9. Fulltext The role of maternal serum alpha-fetoprotein, human chorionic gonadotrophin and oestriol in the antenatal screening of Down's syndrome
    Chang TC, Cheng HH
    Med J Malaysia, 1994 Dec;49(4):351-4.
    PMID: 7545778
    The use of maternal age alone to identify pregnant mothers at risk of a fetus with Down's syndrome has recently been supplemented by maternal serum screening using biochemical markers such as alpha-protein, human chorionic gonadotrophin and oestriol. These tests have been reported to increase the sensitivity of antenatal detection of such fetuses from 35% to 67% with a false positive rate of 5%. However, these maternal serum markers may be affected by maternal weight, the smoking history of mothers and diabetes mellitus. Furthermore, such sensitivities are achieved only when gestational age is assessed accurately by ultrasound. Many further studies need to be carried out before the introduction of maternal serum screening into routine obstetric practice in Singapore. These include studies on the incidence of Down's syndrome in the local population, studies on the distribution of these serum markers in the second trimester of pregnancy, sensitivities and positive predictive values of such a test in the local population as well as the socio-economic implications of implementing such a screening test in the local obstetric population.
    Matched MeSH terms: Down Syndrome/diagnosis*
  10. 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
  11. Fulltext Recurrent epididymo-orchitis: a clinical presentation of posterior urethral valve in a child with Down syndrome
    Faizah, M.Z., Noorakmal, A., Syariz, I.S., Dayang, A.A.
    Medicine & Health, 2011;6(1):73-77.
    MyJurnal
    Posterior urethral valve (PUV) commonly presents during infancy. We report a case of a 5-year-old boy with Down syndrome who was diagnosed to have PUV in late childhood. He presented with recurrent left epididymo-orchitis, an uncommon but recognized complication of PUV. Our aim is to discuss this rare and delayed presentation of PUV in particular amongst children with Down syndrome, method of diagnosis and complication of the disease if left untreated.
    Matched MeSH terms: Down Syndrome
  12. Fulltext Should parental decision override best interest of a handicapped child? A case illustration in a Malaysian child with Down Syndrome
    Fashiham Taib, Nur Arzuar Abdul Rahim, Mohd Rizal Mohd Zain, Mohamad Ikram Ilias, Nik Mohd Rizal Mohd Fakri, Zabidi Azhar Hussin
    Education in Medicine Journal, 2015;7(1):67-71.
    MyJurnal
    The paper discusses on the complexity of the issues surrounding a patient with subluxation of cervical spine in a Down syndrome child. Several relevant issues are discussed including consent in a minor, conflicting decision making between parents and doctors, end-of-life issues, supporting handicapped child with minimal co-morbidities, community ethics, neglect of care by the caregiver and decision making after allowing zonal of parental discretion. Despite the difficulties surrounding parental actions, there are still ethical priorities which have to be considered individually to alleviate the suffering of the patients and the family members. Dealing with patients with chronic illnesses is a challenge for any medical doctors. The case warrants sensitive approach to allow appropriate respect for parental decision despite in disagreement with the clinical team. The term ‘zone of parental discretion’ refers to a controversial area of decision making; and has still many potential conflicts on day to day clinical cases, especially among the conservative society in the East Coast of Peninsular Malaysia.
    Matched MeSH terms: Down Syndrome
  13. Fulltext Down syndrome and Patau syndrome in the same sibship: random or not?
    Foong Eva, Hasliani Hassan, Azizah Othman, Ilunihayati Ibrahim, Nazihah Mohd Yunus, Siti Mariam Ismail, et al.
    Malaysian Journal of Paediatrics and Child Health, 2017;23(2):0-0.
    MyJurnal
    Objectives: Chromosomal abnormalities especially aneuploidies are the most common etiology for pregnancy loss. Trisomy 13, trisomy 18 and trisomy 21 are the most common chromosome autosomal aneuploidies with trisomy 21 (Down syndrome) being the most common chromosomal abnormality among liveborn infants. In previous reports, we noted that the recurrence of these aneuploidies in some families may not occur by chance alone.

    Methods: Extraction of relevant data from review of medical case notes of a young couple with two offspring with Down syndrome (DS) and Patau syndrome.

    Results: A family history of DS is a predisposing factor for both DS and other types of aneuploidy. Certain instances of non-disjunction error are not random.

    Conclusion: As the maternal age was not advanced in both pregnancies, there is a possibility that the recurrent aneuploidy in this family may not be accounted by chance alone. The risk of having subsequent affected pregnancy cannot be ignored in this family and prenatal diagnosis is strongly recommended in the subsequent pregnancy.
    Matched MeSH terms: Down Syndrome
  14. Quality of life among Malaysian mothers with a child with Down syndrome
    Geok CK, Abdullah KL, Kee LH
    Int J Nurs Pract, 2013 Aug;19(4):381-9.
    PMID: 23915407 DOI: 10.1111/ijn.12083
    The purpose of this paper is to examine the quality of life (QOL) among mothers with a child with Down syndrome using The World Health Organization Quality of Life scale instrument. A convenience sample of 161 mothers was accessed through the various institutions which provide interventional or educational programmes to children with disabilities within two of the regions of the Borneo State of Malaysia (Sarawak). Nearly half of the group of mothers perceived their QOL as neither poor nor good (n = 73). An overall QOL score of 14.0 ± 1.84 was obtained. The highest and lowest domain scores were found for social relationship domain (Mean = 14.9 ± 2.1) and environmental support domain (Mean = 13.3 ± 2.1) respectively. Correlation analysis of selected background variables (i.e. locality, education, income and marital status) and overall QOL indicated rho (161) = 0.22-0.28 (P < 0.01). Inverse correlation between maternal age and overall QOL score was indicated, with rho (161) = -0.17 (P < 0.05). Linear regression analysis indicated that the combination of these few variables together accounted for 14.5% of the QOL variability in the sample. Findings point to implications for priorities of care provisions by policy-makers and care professionals in their practice.
    Matched MeSH terms: Down Syndrome/psychology*
  15. Fulltext Assessment and Clinical Utility of a Non-Next-Generation Sequencing-Based Non-Invasive Prenatal Testing Technology
    Gormus U, Chaubey A, Shenoy S, Wong YW, Chan LY, Choo BP, et al.
    Curr Issues Mol Biol, 2021 Aug 17;43(2):958-964.
    PMID: 34449543 DOI: 10.3390/cimb43020068
    Background: Rolling-circle replication (RCR) is a novel technology that has not been applied to cell-free DNA (cfDNA) testing until recently. Given the cost and simplicity advantages of this technology compared to other platforms currently used in cfDNA analysis, an assessment of RCR in clinical laboratories was performed. Here, we present the first validation study from clinical laboratories utilizing RCR technology. Methods: 831 samples from spontaneously pregnant women carrying a singleton fetus, and 25 synthetic samples, were analyzed for the fetal risk of trisomy 21 (T21), trisomy 18 (T18) and trisomy 13 (T13), by three laboratories on three continents. All the screen-positive pregnancies were provided post-test genetic counseling and confirmatory diagnostic invasive testing (e.g., amniocentesis). The screen-negative pregnancies were routinely evaluated at birth for fetal aneuploidies, using newborn examinations, and any suspected aneuploidies would have been offered diagnostic testing or confirmed with karyotyping. Results: The study found rolling-circle replication to be a highly viable technology for the clinical assessment of fetal aneuploidies, with 100% sensitivity for T21 (95% CI: 82.35-100.00%); 100.00% sensitivity for T18 (71.51-100.00%); and 100.00% sensitivity for T13 analyses (66.37-100.00%). The specificities were >99% for each trisomy (99.7% (99.01-99.97%) for T21; 99.5% (98.62-99.85%) for T18; 99.7% (99.03-99.97%) for T13), along with a first-pass no-call rate of 0.93%. Conclusions: The study showed that using a rolling-circle replication-based cfDNA system for the evaluation of the common aneuploidies would provide greater accuracy and clinical utility compared to conventional biochemical screening, and it would provide comparable results to other reported cfDNA methodologies.
    Matched MeSH terms: Down Syndrome/diagnosis*; Down Syndrome/genetics
  16. Dexmedetomidine and ketamine sedation for dental extraction in children with cyanotic heart disease
    Hasan MS, Chan L
    J Oral Maxillofac Surg, 2014 Oct;72(10):1920.e1-4.
    PMID: 24985961 DOI: 10.1016/j.joms.2014.03.032
    Treating children with cyanotic congenital heart disease poses many challenges to anesthesiologists because of the multiple problems associated with the condition. The anesthetic technique and drugs used perioperatively can affect a patient's physiologic status during surgery. The adherence to certain hemodynamic objectives and the avoidance of factors that could worsen the abnormal cardiopulmonary physiology cannot be overemphasized. In the present case series, we describe the use of a dexmedetomidine-ketamine combination for dental extraction in spontaneously breathing children with cyanotic congenital heart disease. The anesthetic concerns regarding airway management, the pharmacologic effects of drugs, and maintenance of adequate hemodynamic, blood gases, and acid-base status are discussed.
    Matched MeSH terms: Down Syndrome/complications
  17. 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: Down Syndrome/diagnosis; Down Syndrome/epidemiology
  18. Fulltext Cardiovascular malformations in Malaysian neonates with Down's syndrome
    Hoe TS, Chan KC, Boo NY
    Singapore Med J, 1990 Oct;31(5):474-6.
    PMID: 2148028
    A prospective study was done to determine the incidence of cardiovascular malformations in neonates with Down's syndrome. 17/34 (50%) of the babies with Down's syndrome born at the Maternity Hospital, Kuala Lumpur, Malaysia had congenital heart defects. These included 7 cases of ventricular septal defect (VSD), 3 cases of patent ductus arteriosus (PDA), 2 cases of atrio-ventricular canal defect, 2 cases of ventricular septal defect with patent ductus arteriosus, 1 case of hypertrophic cardiomyopathy, 1 case of hypertrophic obstructive cardiomyopathy and 1 case of complex cyanotic heart. Only 8/17 (47%) of these babies had any clinical signs suggesting underlying cardiac defects. In view of the common occurrence of cardiac anomalies, it is recommended that echocardiographic screening should be carried out on all neonates with Down's syndrome.
    Matched MeSH terms: Down Syndrome/complications*
  19. Fulltext Incidence of Down's syndrome in a large Malaysian maternity hospital over an 18 month period
    Hoe TS, Boo NY, Clyde MM
    Singapore Med J, 1989 Jun;30(3):246-8.
    PMID: 2531468
    Over an 18 month period, 34,522 livebirths were delivered in the Maternity Hospital, Kuala Lumpur. 36 of them had Down's Syndrome. Based on our findings, the incidence of Down's syndrome among the Malaysian babies born in this hospital was 1:959 livebirths. According to racial distributions, the incidence among Malay was 1:981 livebirths, Chinese 1:940 livebirths, and Indian 1:860 livebirths. Our incidence was lower than those from the Western populations. Unlike others' studies, there was also a female preponderance of Down's syndrome among the Malaysian babies.
    Matched MeSH terms: Down Syndrome/epidemiology*
  20. Identification of chromosome 21 materials using the whole chromosome 21 specific library
    Isa MN, Boyd E, Turner TL, Tolmie J, Connor JM
    Southeast Asian J. Trop. Med. Public Health, 1995;26 Suppl 1:92-5.
    PMID: 8629150
    The chromosome in situ suppression hybridization or chromosome painting technic was applied to confirm and eliminate the markers involving chromosome 21 segments using a chromosome 21 DNA library. The library ATCCLL21SNO2 was amplified, directly biotinylated using the polymerase chain reaction. The results demonstrated a translocation of chromosome 21 material on chromosome 2 and X and eliminate the origin of the marker. Thus, the technique provides an important tool to complement the conventional G-banding technic.
    Matched MeSH terms: Down Syndrome/diagnosis; Down Syndrome/genetics*
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