Displaying publications 101 - 120 of 336 in total

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  1. Fulltext Functional analyses of C.2268dup in thyroid peroxidase gene associated with goitrous congenital hypothyroidism
    Lee CC, Harun F, Jalaludin MY, Lim CY, Ng KL, Mat Junit S
    Biomed Res Int, 2014;2014:370538.
    PMID: 24745015 DOI: 10.1155/2014/370538
    The c.2268dup mutation in thyroid peroxidase (TPO) gene was reported to be a founder mutation in Taiwanese patients with dyshormonogenetic congenital hypothyroidism (CH). The functional impact of the mutation is not well documented. In this study, homozygous c.2268dup mutation was detected in two Malaysian-Chinese sisters with goitrous CH. Normal and alternatively spliced TPO mRNA transcripts were present in thyroid tissues of the two sisters. The abnormal transcript contained 34 nucleotides originating from intron 12. The c.2268dup is predicted to generate a premature termination codon (PTC) at position 757 (p.Glu757X). Instead of restoring the normal reading frame, the alternatively spliced transcript has led to another stop codon at position 740 (p.Asp739ValfsX740). The two PTCs are located at 116 and 201 nucleotides upstream of the exons 13/14 junction fulfilling the requirement for a nonsense-mediated mRNA decay (NMD). Quantitative RT-PCR revealed an abundance of unidentified transcripts believed to be associated with the NMD. TPO enzyme activity was not detected in both patients, even though a faint TPO band of about 80 kD was present. In conclusion, the c.2268dup mutation leads to the formation of normal and alternatively spliced TPO mRNA transcripts with a consequential loss of TPO enzymatic activity in Malaysian-Chinese patients with goitrous CH.
    Matched MeSH terms: Congenital Hypothyroidism/diagnosis; Congenital Hypothyroidism/enzymology*; Congenital Hypothyroidism/genetics*
  2. 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: Congenital Abnormalities/diagnosis*; Congenital Abnormalities/epidemiology*; Congenital Abnormalities/prevention & control
  3. Noncompaction cardiomyopathy manifesting as retinal artery occlusion
    Jin-Poi T, Shatriah I, Ng SL, Zurkurnai Y, Yunus R
    JAMA Ophthalmol, 2013 Feb;131(2):263-5.
    PMID: 23411903 DOI: 10.1001/jamaophthalmol.2013.587
    Matched MeSH terms: Heart Defects, Congenital/diagnosis*; Heart Defects, Congenital/drug therapy; Heart Defects, Congenital/physiopathology
  4. Fulltext Risk of all-cause and CHD mortality in women versus men with type 2 diabetes: a systematic review and meta-analysis
    Xu G, You D, Wong L, Duan D, Kong F, Zhang X, et al.
    Eur J Endocrinol, 2019 Apr;180(4):243-255.
    PMID: 30668524 DOI: 10.1530/EJE-18-0792
    Objective: Previous studies have shown sex-specific differences in all-cause and CHD mortality in type 2 diabetes. We performed a systematic review and meta-analysis to provide a global picture of the estimated influence of type 2 diabetes on the risk of all-cause and CHD mortality in women vs men.

    Methods: We systematically searched PubMed, EMBASE and Web of Science for studies published from their starting dates to Aug 7, 2018. The sex-specific hazard ratios (HRs) and their pooled ratio (women vs men) of all-cause and CHD mortality associated with type 2 diabetes were obtained through an inverse variance-weighted random-effects meta-analysis. Subgroup analyses were used to explore the potential sources of heterogeneity.

    Results: The 35 analyzed prospective cohort studies included 2 314 292 individuals, among whom 254 038 all-cause deaths occurred. The pooled women vs men ratio of the HRs for all-cause and CHD mortality were 1.17 (95% CI: 1.12-1.23, I2 = 81.6%) and 1.97 (95% CI: 1.49-2.61, I2 = 86.4%), respectively. The pooled estimate of the HR for all-cause mortality was approximately 1.30 in articles in which the duration of follow-up was longer than 10 years and 1.10 in articles in which the duration of follow-up was less than 10 years. The pooled HRs for all-cause mortality in patients with type 2 diabetes was 2.33 (95% CI: 2.02-2.69) in women and 1.91 (95% CI: 1.72-2.12) in men, compared with their healthy counterparts.

    Conclusions: The effect of diabetes on all-cause and CHD mortality is approximately 17 and 97% greater, respectively, for women than for men.

    Matched MeSH terms: Heart Defects, Congenital/diagnosis*; Heart Defects, Congenital/mortality*; Heart Defects, Congenital/physiopathology
  5. Ten-year trend in prevalence and outcome of Down syndrome with congenital heart disease in a middle-income country
    Zahari N, Mat Bah MN, A Razak H, Thong MK
    Eur J Pediatr, 2019 Aug;178(8):1267-1274.
    PMID: 31222391 DOI: 10.1007/s00431-019-03403-x
    Limited data are available on the survival of patients with Down syndrome and congenital heart disease (CHD) from middle-income countries. This retrospective cohort study was performed to determine the trends in the prevalence and survival of such patients born from January 2006 to December 2015 in Malaysia. Among 754 patients with Down syndrome, 414 (55%) had CHD, and no significant trend was observed during the 10 years. Of these 414 patients, 30% had lesions that closed spontaneously, 35% underwent surgery/intervention, 9% died before surgery/intervention, and 10% were treated with comfort care. The overall mortality rate was 23%, the median age at death was 7.6 months, and no significant changes occurred over time. The early and late post-surgery/intervention mortality rates were 0.7% and 9.0%, respectively. Most deaths were of non-cardiac causes. The overall 1-, 5-, and 10-year survival rates were 85.5%, 74.6%, and 72.9%, respectively. Patients with severe lesions, persistent pulmonary hypertension of the newborn, atrioventricular septal defect, and pulmonary hypertension had low survival at 1 year of age.Conclusion: The prevalence of CHD in patients with Down syndrome is similar between Malaysia and high-income countries. The lower survival rate is attributed to limited expertise and resources which limit timely surgery. What is Known: • The survival of patients with Down syndrome with congenital heart disease (CHD) has improved in high-income countries. However, little is known about the survival of patients with Down syndrome with CHD from middle-income countries. • In the Caucasian population, atrioventricular septal defect is the most common type of CHD associated with Down syndrome. What is New: • In middle-income countries, the prevalence of CHD is the same as in high-income countries, but with a lower survival rate. • In the Asian population, ventricular septal defect is the most common type of CHD in patients with Down syndrome.
    Matched MeSH terms: Heart Defects, Congenital/diagnosis; Heart Defects, Congenital/epidemiology*; Heart Defects, Congenital/therapy
  6. A case of congenital deformity suggestive of leprosy
    Veerasingham KV
    Malayan Medical Journal, 1934;9:209.
    Matched MeSH terms: Congenital Abnormalities
  7. The birth prevalence, severity, and temporal trends of congenital heart disease in the middle-income country: A population-based study
    Mat Bah MN, Sapian MH, Jamil MT, Abdullah N, Alias EY, Zahari N
    Congenit Heart Dis, 2018 Nov;13(6):1012-1027.
    PMID: 30289622 DOI: 10.1111/chd.12672
    OBJECTIVES: There is limited data on congenital heart disease (CHD) from the lower- and middle-income country. We aim to study the epidemiology of CHD with the specific objective to estimate the birth prevalence, severity, and its trend over time.

    DESIGN: A population-based study with data retrieved from the Pediatric Cardiology Clinical Information System, a clinical registry of acquired and congenital heart disease for children.

    SETTING: State of Johor, Malaysia.

    PATIENTS: All children (0-12 years of age) born in the state of Johor between January 2006 and December 2015.

    INTERVENTION: None.

    OUTCOME MEASURE: The birth prevalence, severity, and temporal trend over time.

    RESULTS: There were 531,904 live births during the study period with 3557 new cases of CHD detected. Therefore, the birth prevalence of CHD was 6.7 per 1000 live births (LB) (95% confidence interval [CI]: 6.5-6.9). Of these, 38% were severe, 15% moderate, and 47% mild lesions. Hence, the birth prevalence of mild, moderate, and severe CHD was 3.2 (95% CI: 3.0-3.3), 0.9 (95% CI: 0.9- 1.1), and 2.6 (95% CI: 2.4-2.7) per 1000 LB, respectively. There was a significant increase in the birth prevalence of CHD, from 5.1/1000 LB in 2006 to 7.8/1000 LB in 2015 (P 
    Matched MeSH terms: Heart Defects, Congenital/diagnosis; Heart Defects, Congenital/economics; Heart Defects, Congenital/epidemiology*
  8. A case of disordered development of the female genitalia
    Poynton JO
    Lancet, 1938;231:1050-1.
    DOI: 10.1016/S0140-6736(00)94523-9
    Matched MeSH terms: Congenital Abnormalities
  9. Management algorithm in pulmonary atresia with intact ventricular septum
    Alwi M
    Catheter Cardiovasc Interv, 2006 May;67(5):679-86.
    PMID: 16572430 DOI: 10.1002/ccd.20672
    Pulmonary atresia with intact ventricular septum (PAIVS) is a disease with remarkable morphologic variability, affecting not only the pulmonary valve but also the tricuspid valve, the RV cavity and coronary arteries. With advances in interventional techniques and congenital heart surgery, the management of PAIVS continues to evolve. This review is an attempt at providing a practical approach to the management of this disease. The basis of our approach is morphologic classification as derived from echocardiography and angiography. Group A, patients with good sized RV and membranous atresia, the primary procedure at presentation is radiofrequency (RF) valvotomy. Often it is the only procedure required in this group with the most favourable outcome. Patients with severely hypoplastic RV (Group C) are managed along the lines of hearts with single ventricle physiology. The treatment at presentation is patent ductus arteriosus (PDA) stenting with balloon atrial septostomy or conventional modified Blalock Taussig (BT) shunt. Bidirectional Glenn shunt may be done 6-12 months later followed by Fontan completion after a suitable interval. Patients in Group B, the intermediate group, are those with borderline RV size, usually with attenuated trabecular component but well developed infundibulum. The treatment at presentation is RF valvotomy and PDA stenting +/- balloon atrial septostomy. Surgical re-interventions are not uncommonly required viz. bidirectional Glenn shunt when the RV fails to grow adequately (11/2 - ventricle repair) and right ventricular outflow tract (RVOT) reconstruction for subvalvar obstruction or small pulmonary annulus. Catheter based interventions viz. repeat balloon dilatation or device closure of patent foramen ovale (PFO) may also be required in some patients.
    Matched MeSH terms: Heart Defects, Congenital/diagnosis; Heart Defects, Congenital/pathology; Heart Defects, Congenital/therapy*
  10. Fulltext Clinical glycomics for the diagnosis of congenital disorders of glycosylation
    Abu Bakar N, Lefeber DJ, van Scherpenzeel M
    J Inherit Metab Dis, 2018 May;41(3):499-513.
    PMID: 29497882 DOI: 10.1007/s10545-018-0144-9
    Clinical glycomics comprises a spectrum of different analytical methodologies to analyze glycan structures, which provides insights into the mechanisms of glycosylation. Within clinical diagnostics, glycomics serves as a functional readout of genetic variants, and can form a basis for therapy development, as was described for PGM1-CDG. Integration of glycomics with genomics has resulted in the elucidation of previously unknown disorders of glycosylation, namely CCDC115-CDG, TMEM199-CDG, ATP6AP1-CDG, MAN1B1-CDG, and PGM1-CDG. This review provides an introduction into protein glycosylation and presents the different glycomics methodologies ranging from gel electrophoresis to mass spectrometry (MS) and from free glycans to intact glycoproteins. The role of glycomics in the diagnosis of congenital disorders of glycosylation (CDG) is presented, including a diagnostic flow chart and an overview of glycomics data of known CDG subtypes. The review ends with some future perspectives, showing upcoming technologies as system wide mapping of the N- and O-glycoproteome, intact glycoprotein profiling and analysis of sugar metabolism. These new advances will provide additional insights and opportunities to develop personalized therapy. This is especially true for inborn errors of metabolism, which are amenable to causal therapy, because interventions through supplementation therapy can directly target the pathogenesis at the molecular level.
    Matched MeSH terms: Congenital Disorders of Glycosylation
  11. A 45-degree radiographic method for measuring the neck shaft angle and anteversion of the femur: a pilot study
    Teo PC, Kassim AY, Thevarajan K
    J Orthop Surg (Hong Kong), 2013 Dec;21(3):340-6.
    PMID: 24366797
    To propose a novel method to measure the neck shaft angle and anteversion of the femur using anteroposterior and 45-degree oblique radiographs.
    Matched MeSH terms: Hip Dislocation, Congenital/physiopathology; Hip Dislocation, Congenital/surgery
  12. Fulltext Acardius amorphus: magnetic resonance imaging (MRI) can be helpful in the diagnosis when ultrasound (US) is inconclusive
    Azian AA, Roslani AL
    Med J Malaysia, 2011 Dec;66(5):510-2.
    PMID: 22390115 MyJurnal
    An acardiac twin is rare and the diagnosis is commonly achieved from antenatal ultrasound (US) scans. However there have been cases where the appearances of the acardiac twin can be confusing and mimics a mass or tumour, for example, a teratoma. We experienced a case where the findings were unclear from the antenatal ultrasound scans and we had to resort to Magnetic Resonance Imaging (MRI), where we finally made the correct diagnosis based on the identification of two umbilical cords, supplying the normal fetus and the 'mass' (acardiac twin) respectively.
    Matched MeSH terms: Heart Defects, Congenital/diagnosis*; Heart Defects, Congenital/ultrasonography
  13. Picture of the month. Subcutaneous fat necrosis of the newborn
    Yuen NS, Ibrahim SB
    Arch Pediatr Adolesc Med, 2011 Jun;165(6):563-4.
    PMID: 21646590 DOI: 10.1001/archpediatrics.2011.80-a
    Matched MeSH terms: Fat Necrosis/congenital; Skin Diseases/congenital
  14. Fulltext A young woman with hypogonadism, hypertension and hypokalaemia
    Toh VK, Yung CH
    Med J Malaysia, 2009 Sep;64(3):242-3.
    PMID: 20527279 MyJurnal
    We report a case of a 16 years old girl who presented sequentially with primary amenorrhoea, hypertension and hypokalaemia. Eight years later, she was finally diagnosed with 17alpha-hydroxylase deficiency congenital adrenal hyperplasia. Previous antihypertensive medications were stopped. Hydrocortisone alone successfully maintained normotension and normokalaemia.
    Matched MeSH terms: Adrenal Hyperplasia, Congenital/diagnosis*; Adrenal Hyperplasia, Congenital/etiology*
  15. Fulltext Congenital insensitivity to pain with anhydrosis in a Malaysian family: a genetic analysis
    Shalimar A, Sharaf I, Farah Wahida I, Ruszymah BH
    J Orthop Surg (Hong Kong), 2007 Dec;15(3):357-60.
    PMID: 18162686 DOI: 10.1177/230949900701500323
    A Malaysian family with congenital insensitivity to pain with anhydrosis was diagnosed based on clinical symptoms of chronic ulcers, joint deformities, malunited fractures, anhydrosis, and learning disabilities. We detected a compound heterozygous mutation in exon 16: V709L from the mother and G718S from the father. Two novel mutations were identified: at amino acid 709, a change of G to C at nucleotide 2209 (approximately 2209G to C) causing a valine to leucine substitution (V709L), and at amino acid 718, a change of G to A at nucleotide 2236 (approximately 2236G to A) causing a glycine to serine substitution (G718S). Polymorphisms identified were at nucleotides approximately 2113G to C and approximately 2176T to C.
    Matched MeSH terms: Pain Insensitivity, Congenital/ethnology; Pain Insensitivity, Congenital/genetics*
  16. Fulltext Congenital bilateral vocal cord paralysis
    Hasniah AL, Asiah K, Mariana D, Anida AR, Norzila MZ, Sahrir S
    Med J Malaysia, 2006 Dec;61(5):626-9.
    PMID: 17623966 MyJurnal
    Congenital upper airway obstruction is a relatively rare but important cause of major respiratory problems in the neonatal period. Vocal cord paralysis is the second most common cause of congenital airway obstruction presenting with neonatal stridor. It is often the reason for the failure of neonates to wean from the respiratory support. A retrospective analysis of medical record review was conducted. There were seven paediatric patients diagnosed with bilateral vocal fold paralysis in the past three years, of which five were recently diagnosed. All patients underwent flexible with/without rigid bronchoscopes to confirm the diagnosis. This case series highlight our experience in managing the problem of bilateral vocal cord paralysis in the paediatric population, with particular emphasis on their clinical presentations, associated complications and both upper and lower airway abnormalities. The management options and outcome of these patients will also be discussed.
    Matched MeSH terms: Airway Obstruction/congenital; Vocal Cord Paralysis/congenital
  17. Fulltext Revision surgery for developmental dysplasia of the hip
    Chidambaram S, Abd Halim AR, Yeap JK, Ibrahim S
    Med J Malaysia, 2005 Jul;60 Suppl C:91-8.
    PMID: 16381291
    Revision surgery following failed open reduction for developmental dysplasia of the hip (DDH) is technically demanding. We reviewed 12 patients in our institution that required a revision surgery between January 1994 and December 2003. The aims of this study are to identify the causes of redislocation after the primary open reduction and to determine the clinical and radiological outcome after the revision surgery. The mean age at presentation for DDH was 31 months (range 1-84) and the mean age at primary open reduction surgery was 38 months (range 15-84) and the mean age at revision surgery was 69 months (range 21-180). The mean follow-up period after revision surgery was 20 months (range 3-84). All the revision surgery was performed via an anterior Smith Peterson approach. The most common cause for redislocation was inadequate exposure and failure to release the obstructing soft tissues around the hip. The bony factors for redislocation included failure to perform a femoral shortening and excessive derotation of an anteverted femoral head combined with a Salter osteotomy. Three cases with posterior acetabular wall deficiency needed immobilization of the hip in extension as the hip tended to dislocate in flexion. Six patients had limb length discrepancy ranging from 1 cm to 4 cm and 50% developed avascular necrosis. Only 2 patients were asymptomatic and the majority had a limp and limitation of motion. All were pain free except one. In view of the technically demanding surgery and poor results after revision, the surgeon should recognize the pathology and ensure that the primary procedure achieves a stable and concentric reduction.
    Matched MeSH terms: Hip Dislocation, Congenital/radiography; Hip Dislocation, Congenital/surgery*
  18. Fulltext Congenital rubella syndrome with positive serology and virus isolation
    Ooi HL, Cheong SM, Yogeswery S, Norizah I, Zuridah H, Kumarasamy V, et al.
    Med J Malaysia, 2006 Jun;61(2):248-50.
    PMID: 16898324 MyJurnal
    An effective live attenuated rubella vaccine was available since 1969 and congenital rubella syndrome can be prevented with appropriate vaccination. We report a baby with congenital rubella syndrome born in Klang valley to indicate that the Universal Rubella Vaccination Programme adopted by the Ministry of Health Malaysia since 2002 has yet to achieve its effect of eliminating transmission of rubella and preventing congenital rubella infection in the community. To our knowledge, the virus isolate represents the first successful isolation of rubella virus in this country and will serve as the reference strain for future comparison in molecular epidemiological tracking of rubella virus activity this country.
    Matched MeSH terms: Rubella Syndrome, Congenital/diagnosis; Rubella Syndrome, Congenital/virology*
  19. Fulltext A modified method of traction for young children with congenital dislocation of the hip as a preliminary to reduction
    Pan KL, Rasit H
    Med J Malaysia, 2004 Dec;59 Suppl F:47-8.
    PMID: 15941161
    Many authors agree that preliminary traction prior to closed or open reduction for congenital dislocation of the hip is helpful. Different ways of traction have been used and each of them has its own advantages and disadvantages. One of the problems in the very young child is the difficulty in maintaining a suitable traction that is biomechanically effective. We found that using a rocker bed made the traction more "user friendly" for the child, the parent and the doctors.
    Matched MeSH terms: Hip Dislocation, Congenital/radiography; Hip Dislocation, Congenital/therapy*
  20. Fulltext Beyond Critical Congenital Heart Disease: Newborn Screening Using Pulse Oximetry for Neonatal Sepsis and Respiratory Diseases in a Middle-Income Country
    Jawin V, Ang HL, Omar A, Thong MK
    PLoS One, 2015;10(9):e0137580.
    PMID: 26360420 DOI: 10.1371/journal.pone.0137580
    Studies on pulse oximetry screening for neonatal sepsis and respiratory disease in a middle-income country are lacking. Newborn screening for critical congenital heart disease (CCHD) using pulse oximetry is an effective and life-saving strategy in developed countries. While most studies have reported false-positive results during CCHD screening, they have not elaborated on the detected disease types. We studied the effectiveness and outcomes of pulse oximetry newborn screening for non-cardiac hypoxemic diseases such as neonatal sepsis, respiratory diseases, and CCHD in a middle-income country.
    Matched MeSH terms: Heart Defects, Congenital/diagnosis*; Heart Defects, Congenital/epidemiology
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