MyMedR

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

The Economic Impact of Managing Late Presentation of Developmental Dysplasia of Hip (DDH)

Anuar R, Mohd-Hisyamudin HP, Ahmad MH, Zulkiflee O

Malays Orthop J, 2015 Nov;9(3):40-43.

PMID: 28611908 MyJurnal DOI: 10.5704/MOJ.1511.006

Delayed presentation of Developmental Dysplasia of Hip (DDH) comes with challenges in treatment as well as high surgical cost. Therefore the objective of this study is to quantify the economic impact of management of late presentation of DDH during a last 3-year period. We conducted a retrospective study with analysis of DDH cases managed between years 2012 to 2014. Early and late presentations of DDH were identified and cost management for both was estimated. Out of twenty-four DDH cases, thirteen cases fulfilled the inclusion criteria. All were female with majority of them presenting with unilateral DDH predominantly of the left hip. Most patients presented after age of six months and the principal complaint was abnormal or limping gait. The grand total cost for managing DDH during the three years period was USD 12,385.51, with 86% of the amount having been used to manage late presentation of DDH that was mostly contributed by the cost of surgery. We concluded that delayed presentation of DDH contributes heavily to high national expenditure. Early detection of DDH cases with systematic neonatal screening may help to minimize the incidence of the late presenting DDH and subsequently reduce the economic burden to the government.

Matched MeSH terms: Hip Dislocation, Congenital

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: Congenital Hypothyroidism; Heart Defects, Congenital; Limb Deformities, Congenital

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: Nystagmus, Congenital/ethnology

Optic disc swelling in acromicric and geleophysic dysplasia

Moey LH, Flaherty M, Zankl A

Am J Med Genet A, 2019 09;179(9):1898-1901.

PMID: 31228225 DOI: 10.1002/ajmg.a.61268

Matched MeSH terms: Limb Deformities, Congenital/drug therapy*; Limb Deformities, Congenital/genetics; Limb Deformities, Congenital/pathology

Fulltext Infected intraparenchymal bronchogenic cyst mimicking recurrent lung abscess in a young adult

Ramzisham AR, Johann KF, Talal AR, Joanna OS, Zamrin DM

Med J Malaysia, 2007 Dec;62(5):416-7.

PMID: 18705480 MyJurnal

A 23 year old female with a past history of a lung abscess diagnosed at the age of 13 years presented with recurrent episodes of productive cough. Chest radiograph and a high resolution CT scan of the thorax led to the diagnosis of a left lower lobe lung abscess. She underwent a successful thoracotomy and a left lower lobe lobectomy. Histopathological examination revealed the diagnosis of an infected congenital bronchogenic cyst. The recent literature on this is reviewed.

Matched MeSH terms: Bronchogenic Cyst/congenital

Fulltext Prenatal Diagnosis of Thoracoschisis and Review of Literature

Hanafi HR, Zakaria ZA

Case Rep Obstet Gynecol, 2017;2017:9821213.

PMID: 29348951 DOI: 10.1155/2017/9821213

Thoracoschisis is a rare congenital malformation characterized by herniation of the abdominal content through a defect in the thorax. There are previously 12 reported cases, most discussing the postnatal findings and management. Here we describe a case of left thoracoschisis with associated upper limb abnormality which was diagnosed antenatally with the aid of 3D ultrasound.

Matched MeSH terms: Limb Deformities, Congenital

Congenital rubella syndrome: a review of laboratory data from 2002 to 2011

Saraswathy TS, Rozainanee MZ, Asshikin RN, Zainah S

Southeast Asian J. Trop. Med. Public Health, 2013 May;44(3):429-35.

PMID: 24050074

Rubella infection in pregnant women during the first trimester of pregnancy can lead to fetal anomalies, commonly known as congenital rubella syndrome (CRS). The objective of our study was to analyze the serological test results among infants suspected of having CRS aged < or = 12 months compared with their clinical status. Between January 2002 and December 2011, 3,279 serum samples from infants aged < or = 12 months from government hospitals in Malaysia were examined for rubella specific IgM and IgG antibodies using a Axsym, automated analyzer (Abbott Laboratories). Forty-eight samples were positive for rubella specific IgM antibodies and 494 samples were positive for rubella specific IgG antibodies. These were then age stratified and their clinical history reviewed for any CRS symptoms. Fifteen of 38 rubella IgM positive infants (39.5%) aged < 3 months, had a clinical appearance compatible with CRS. However, only 1 IgM positive infant aged 3 to 6 months and one infant aged 7 to 11 months had clinical appearance compatible with CRS. The most common abnormal findings in these cases were congenital heart defects and cataracts. Forty-eight point eight percent of IgM positive cases and 53.1% of IgG positive cases, had inadequate information in the chart to determine the presence of CRS. Clinical findings and timely laboratory diagnosis to determine the presence of CRS are important in infants born with congenital defects. Physicians should also be aware of the appropriate interpretation of these findings.

Matched MeSH terms: Rubella Syndrome, Congenital/blood; Rubella Syndrome, Congenital/diagnosis*; Rubella Syndrome, Congenital/epidemiology

Seroprevalence of cytomegalovirus infection in pregnant women and associated role in obstetric complications: a preliminary study

Saraswathy TS, Az-Ulhusna A, Asshikin RN, Suriani S, Zainah S

Southeast Asian J. Trop. Med. Public Health, 2011 Mar;42(2):320-2.

PMID: 21710852

The objective of this study was to determine the seroprevalence of cytomegalovirus (CMV) infections through antenatal screening data and the association of this virus with obstetric complications. Serum samples from 125 apparently healthy pregnant women sent for antenatal screening from various hospitals in Malaysia between January 2007 and December 2008, were examined for CMV specific IgM and IgG antibodies using an enzyme-linked immunosorbent assay method. Of the 125 pregnant women tested, anti-CMV IgG antibody was found in 105 (84%) of the cases and anti-CMV IgM in 9 cases (7.2%). Both CMV IgM and IgG were also found in another 37 women whose serum samples were sent for investigation of various obstetric complications: 17 cases of spontaneous abortions, 15 cases of fetal anomalies detected during ultrasound examination, 1 case of incomplete abortion, 3 cases with premature delivery of infant with congenital anomalies and 1 case of infertility. Our preliminary data which only represented a small study group has shown the prevalence of CMV infection among the local population and the association of CMV in obstetric complications.

Matched MeSH terms: Congenital Abnormalities/virology

Survival and Associated Risk Factors for Mortality Among Infants with Critical Congenital Heart Disease in a Developing Country

Mat Bah MN, Sapian MH, Jamil MT, Alias A, Zahari N

Pediatr Cardiol, 2018 Oct;39(7):1389-1396.

PMID: 29756159 DOI: 10.1007/s00246-018-1908-6

Critical congenital heart disease (CCHD) is associated with significant morbidity and mortality. However, data on survival of CCHD and the risk factors associated with its mortality are limited. This study examined CCHD survival and the risk factors for CCHD mortality. Using a retrospective cohort study of infants born with CCHD from 2006 to 2015, survival over 10 years was estimated using Kaplan-Meier analysis, and the risk factors for mortality were analyzed using multivariate Cox proportional hazards regression. A total of 491 CCHD cases were included in the study, with an overall mortality rate of 34.8% (95% confidence interval [CI] 30.6-39.2). The intervention/surgical mortality rate was 9.8% ≤ 30 days and 11.5% > 30 days after surgery, and 17% died before surgery or intervention. The median age at death was 2.7 months [first quartile: 1 month, third quartile: 7.3 months]. The CCHD survival rate was 90.4% (95% CI 89-91.8%) at 1 month, 69.3% (95% CI 67.2-71.4%) at 1 year, 63.4% (95% CI 61.1-65.7%) at 5 years, and 61.4% (95% CI 58.9-63.9%) at 10 years. Weight of

Matched MeSH terms: Heart Defects, Congenital/diagnosis; Heart Defects, Congenital/mortality*

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*

Fulltext Macrodactyly and poliosis in tuberous sclerosis complex

Sasongko TH, Ismail NF, Nik Mohd Ariff NA, Zabidi-Hussin ZA

Jpn J Clin Oncol, 2014 Nov;44(11):1130.

PMID: 25320338 DOI: 10.1093/jjco/hyu157

Matched MeSH terms: Limb Deformities, Congenital/complications*

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

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*

Combined team management of diabetes mellitus in pregnancy

Ng CS, Lim LS, Chng KP, Lim P, Cheah JS, Yeo PP, et al.

Ann Acad Med Singap, 1985 Apr;14(2):297-302.

PMID: 4037689

225 women with diabetes in pregnancy were managed by a team of obstetricians, physicians (endocrinologists) and paediatricians from the National University of Singapore. A protocol of management was formulated and followed. The incidence of 1.1% or 1 in 90 pregnancies was found, with significantly higher incidence in Indians and lower in Malays. There were 37 established diabetics and 188 diagnosed during pregnancy. Of these (188), 74 were gestational diabetics. All the women were treated with Insulin and Diet or Diet alone. 177 (79%) were treated with Insulin and Diet. Blood sugar profiles were done for monitoring diabetic control. 72.8% of the women were between para 0 and 1 and 85.2% between the ages of 20 and 34. 72.5% of the women delivered at 38 weeks gestation or later. 48.9% went into spontaneous labour, 32.4% were induced and 18.7% had elective caesarean section. 62.2% of the women had labour of less than 12 hours. The overall caesarean section rate was 41.7%. There were 3 stillbirths and 2 neonatal deaths. The perinatal mortality rate was 2.2%. Thirteen babies had congenital malformations (5.8%). 77.8% of the babies had Apgar score of 7 or more at 5 minutes after delivery. 79.1% of the babies weighed between 2.5 kgm and 3.9 kgm. Pre-eclamptic toxaemia was the commonest complication in pregnancy followed by Urinary Tract Infection and Polyhydramnios. Postpartum complications in the mother were confined to 14 women (6.2%), and wound infection or breakdown was the commonest cause.

Matched MeSH terms: Congenital Abnormalities/etiology

Pseudohypoparathyroidism: A case of hypocalcemia and hypothyroidism diagnosed during the postpartum period

Lim KP, Yong SL

Malays Fam Physician, 2019;14(1):31-34.

PMID: 31289630

We describe a 29-year-old Para 1 post-Emergency Lower Segment Caesarean Section (EMLSCS) for fetal distress and Preterm Rupture of the Membrane (PROM) referred by the Obstetric team for persistent bradycardia. She had the typical features of Albright's Hereditary Osteodystrophy (AHO). The laboratory investigation revealed hypocalcemia, hyperphosphatemia with a high Parathyroid hormone (PTH) level and low free Thyroxine 4 (fT4) with high Thyroid Stimulating Hormone (TSH). The patient was diagnosed with Pseudohypoparathyroidism (PHP) Type 1A associated with TSH resistance based on the somatic features of AHO present as well as biochemical and radiological abnormalities.

Matched MeSH terms: Congenital Hypothyroidism

"Ante-natal diagnosis of central nervous system malformations"

Yew CW

Med J Malaysia, 1977 Mar;31(3):232-5.

PMID: 904518

Matched MeSH terms: Congenital Abnormalities/diagnosis

Fulltext Patency of the omphalomesenteric duct (enteroumbilical fistula): 2 case reports

Yeo TC

Med J Malaysia, 1986 Dec;41(4):352-5.

PMID: 3670160

Two cases of enteroumbilical fistula presenting in the neonatal period are reported. Both developed complications which required surgical intervention. A brief discussion on clinical features and management follows.

Matched MeSH terms: Fistula/congenital*; Intestinal Fistula/congenital*

Fulltext Birth defects in Singapore: 1994-2000

Tan KH, Tan TY, Tan J, Tan I, Chew SK, Yeo GS

Singapore Med J, 2005 Oct;46(10):545-52.

PMID: 16172775

To study characteristics of birth defect cases among live births, stillbirths and abortions in Singapore between 1994 and 2000.

Matched MeSH terms: Congenital Abnormalities/ethnology; Congenital Abnormalities/epidemiology*

Fulltext Congenital Hypothyroidism in Children - A Cross-Sectional Study in a Tertiary Centre in Malaysia

Anuar Zaini A, Feng Tung Y, Ahmad Bahuri NF, Yazid Jalaludin M

J ASEAN Fed Endocr Soc, 2020;35(1):62-67.

PMID: 33790495 DOI: 10.15605/jafes.035.01.11

Introduction: The causes of congenital hypothyroidism (CHT) are thyroid dysgenesis (TD), dyshormonogenesis (TDH) or transient hypothyroidism (TH).

Methodology: This is a cross-sectional study looking at data over a period of 16 years (2000-2016). Confirmed cases had thyroid scan at the age of 3-years-old and repeated TFT (after 6 weeks off medications). Relevant data was collected retrospectively.

Results: Forty (60% female) children with CHT were included in the study. Thirty (75%) children presented with high cord TSH. Nine (23%) presented after 2 weeks of life. Majority were diagnosed with TDH (42.5%) with TD and TH of 40% and 17.5% respectively. Median cord TSH of children with TD was significantly higher compared to TDH and TH (p=0.028 and p=0.001 respectively). L-thyroxine doses were not significantly different between TD, TDH and TH at diagnosis or at 3 years.

Conclusions: TDH is highly prevalent in our population. TD may present after 2 weeks of life. One in five children treated for CHT had TH. Differentiating TD, TDH and TH before initiating treatment remains a challenge in Malaysia. This study provides clinicians practical information needed to understand the possible aetiologies from a patient's clinical presentation, biochemical markers and treatment regime. Reassessing TH cases may be warranted to prevent unnecessary treatment.

Matched MeSH terms: Congenital Hypothyroidism

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