MyMedR

The role of toxoplasmosis in congenital disease in Malaysia

Tan DS, Mak JW

Southeast Asian J Trop Med Public Health, 1985 Mar;16(1):88-92.

Toxoplasmosis was found not to be an important cause of intrauterine infection in Malaysia as the rate of toxoplasma-specific IgM in 1,060 congenitally defective Malaysian children, 0 to 4 months old (0.4%) was lower than that in 405 normal children of the same age group (2.0%). A total of 8.2 intra-uterine toxoplasmic infections per 1,000 live births was detected of which one-third (2.7 per 1,000 live births) was overt, manifesting symptoms more of liver damage, than eye or brain damage. A comparison was made with the rates in U.S.A. and Europe. The role of toxoplasmosis in abortion needs to be studied.

Matched MeSH terms: Toxoplasmosis, Congenital/immunology; Toxoplasmosis, Congenital/epidemiology*

A rare case of unilateral postaxial duplicated foot in a developmentally normal child

Sahdi H, Hoong CW, Rasit AH, Arianto F, Siong LK, Abdullah NA

J Orthop Surg (Hong Kong), 2017 01;25(1):2309499016684989.

PMID: 28166702 DOI: 10.1177/2309499016684989

Diplopodia, being a rare congenital disorder, is infrequently discussed in published texts. Most reported cases have accounted the involvement of duplicated preaxial digits with other associated organ system and physical deformities. Here, we present an unusual case of isolated diplopodia involving postaxial toes in a child with no other organ and physical abnormalities. Radiological studies revealed a set of 10-digit-duplicated foot over the lateral aspect of the native foot, complete with phalanges and its corresponding metatarsals as well as tarsals, supplied by an anomalous posterior branch of the popliteal artery. Definitive surgery was performed just before the child was learning to walk.

Matched MeSH terms: Foot Deformities, Congenital/diagnosis*; Foot Deformities, Congenital/surgery

Book: Genetics for obstetricians and gynaecologists: Chapter: Genetic markers on ultrasound scan

Sivanathan J, Thilaganathan B

Best Pract Res Clin Obstet Gynaecol, 2017 Jul;42:64-85.

PMID: 28456373 DOI: 10.1016/j.bpobgyn.2017.03.005

Prenatal diagnosis is a rapidly evolving speciality. Screening for aneuploidy begins with non-sonographic features of background risk of maternal age and past and family history. It is possible to diagnose major structural defects in the foetus using second trimester scans. Serum biochemistry markers in the early second trimester were added to increase the detection rate of aneuploidy. However, as some of these abnormalities were amenable to detection earlier in the first trimester, newer modalities were introduced. Nuchal translucency (NT) measurement was one of the main advances with regard to first trimester screening. Additional markers such as the presence of nasal bone, tricuspid regurgitation, ductus venosus and megacystis; together with first trimester serum biochemistry, further enhanced the detection rate of chromosomal abnormalities. Advances in research and technology have resulted in the availability of non-invasive prenatal testing from 10 weeks of gestation. This has facilitated the detection of the three major chromosomal aneuploidies at very early gestation. However, there are a wide range of genetic syndromes that are not confined to the main trisomies. There are specific markers on ultrasound that can be linked to specific syndromes. Hence, a structured and stepwise approach is needed to identify and reach a possible diagnosis. As anomalies are classified into malformations, deformations and disruptions, it is important to note that not all markers detected are due to genetic syndromes and not all genetic syndromes can be detected on ultrasound scan. In this chapter, we outline common structural markers and their association with main genetic syndromes.

Matched MeSH terms: Congenital Abnormalities/embryology; Congenital Abnormalities/genetics

Fulltext Diastolic pressure alternans: a new sign in congenital absence of the pericardium

Shah RP

Singapore Med J, 2001 Feb;42(2):78-9.

PMID: 11358196

Congenital absence of the pericardium is a rare condition,which is frequently missed due its subtle presentation. It may be misdiagnosed as another condition causing right heart dilatation such as an intracardiac shunt. We report the finding of diastolic pressure alternans during cardiac catheterization in this single case report of a patient with congenital total absence of the pericardium. The occurrence of this phenomenon is hypothesized to be due to excessive cardiac hypermobility and paradoxical septal movement. We propose that this finding may be a useful clue to the diagnosis.

Matched MeSH terms: Congenital Abnormalities/diagnosis; Congenital Abnormalities/physiopathology

Mediastinal teratoma in a neonate

Thambi Dorai CR, Muthu Alhagi V, Chee Eng N, Ismail Z, Yakub A

Pediatr Surg Int, 1998 Nov;14(1-2):84-5.

PMID: 9880705

A neonate with severe respiratory distress due to a benign mediastinal teratoma (MT) is reported. Despite early and easy surgical excision of the tumor, the child died due to poor cardiac function. Only ten cases of MT in neonates have been reported in the literature so far. While the tumor has been known to interfere with lung development in utero, postnatal myocardial dysfunction due to poor heart development has not been previously documented.

Matched MeSH terms: Mediastinal Neoplasms/congenital*; Teratoma/congenital*

The Linburg-Comstock anomaly: incidence in Malaysians and effect on pinch strength

Low TH, Faruk Senan NA, Ahmad TS

J Hand Surg Am, 2012 May;37(5):930-2.

PMID: 22386556 DOI: 10.1016/j.jhsa.2012.01.020

To obtain epidemiologic data on the Linburg-Comstock anomaly in Malaysia and to study the effect of the anomaly on key pinch strength.

Matched MeSH terms: Hand Deformities, Congenital/epidemiology*; Hand Deformities, Congenital/physiopathology

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

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*

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*

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*

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

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

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 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*

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*

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

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

Secukinumab therapy for paediatric patients with various phenotypes of congenital ichthyosis

Albela H, Ting IPL, Lee TS, Ooi D, Leong KF

Clin Exp Dermatol, 2024 Jul 19;49(8):920-922.

PMID: 38470562 DOI: 10.1093/ced/llae082

Matched MeSH terms: Ichthyosiform Erythroderma, Congenital/drug therapy; Ichthyosiform Erythroderma, Congenital/genetics

Newborn Screening TSH Values Less Than 15 mIU/L Are Not Associated With Long-term Hypothyroidism or Cognitive Impairment

West R, Hong J, Derraik JGB, Webster D, Heather NL, Hofman PL

J Clin Endocrinol Metab, 2020 09 01;105(9).

PMID: 32598474 DOI: 10.1210/clinem/dgaa415

BACKGROUND: It is unclear whether newborns with mild thyrotropin elevation (mTSHe) are at risk of neurocognitive impairment. We assessed whether mTSHe at birth persists during childhood and compared neurocognitive functioning to siblings.

METHODS: This study encompassed children born in the Auckland region (New Zealand) with a newborn screen TSH level of 8 to 14 mIU/L blood, age 6.9 to 12.6 years at assessment, and their siblings. Thyroid function tests (serum TSH and free thyroxine) and neurocognitive assessments were performed, including IQ via the Wechsler Intelligence Scale for Children, fourth edition.

RESULTS: Ninety-six mTSHe individuals were studied, including 67 children recruited with 75 sibling controls. Mean mTSHe newborn TSH level was 10.1 mIU/L blood and 2.4 mIU/L at assessment (range, 0.8-7.0 mIU/L, serum). Although higher newborn TSH levels in the mTSHe group correlated with lower full-scale IQ scores (r = 0.25; P = .040), they were not associated with the magnitude of the IQ difference within sibling pairs (P = .56). Cognitive scores were similar for mTSHe and controls (full-scale IQ 107 vs 109; P = .36), with a minor isolated difference in motor coordination scores.

CONCLUSIONS: Our data do not suggest long-term negative effects of neonatal mild TSH elevation. TSH elevation below the screen threshold appears largely transient, and midchildhood neurocognitive performance of these children was similar to their siblings. We propose that associations between neonatal mild TSH elevation and IQ are due to familial confounders. We caution against the practice of reducing screening CH cutoffs to levels at which the diagnosis may not offer long-term benefit for those detected.

Matched MeSH terms: Congenital Hypothyroidism/blood; Congenital Hypothyroidism/complications; Congenital Hypothyroidism/diagnosis*; Congenital Hypothyroidism/epidemiology

Fulltext Unstable haemoglobin Köln disease in members of a Malay family

Eng LL, Lopez CG, Eapen JS, Eravelly J, Wiltshire BG, Lehmann H

J Med Genet, 1972 Sep;9(3):340-3.

PMID: 5079107 DOI: 10.1136/jmg.9.3.340

Matched MeSH terms: Anemia, Hemolytic, Congenital Nonspherocytic/blood*; Anemia, Hemolytic, Congenital Nonspherocytic/enzymology; Anemia, Hemolytic, Congenital Nonspherocytic/genetics; Anemia, Hemolytic, Congenital Nonspherocytic/urine

Displaying publications 121 - 140 of 336 in total