MyMedR

Fulltext Ischaemic gangrene of leg due to ring constriction: a case report

Thambi Dorai CR

Med J Malaysia, 1986 Jun;41(2):173-5.

An infant with bilateral congenital ring constrictions in the legs presenting with ischaemic gangrene of one leg is reported. The ischaemia was precipitated by greenstick fracture, the constriction ring producing a 'tourniquet effect' on the swollen tissues. Prophylactic release of deep annular constrictions is advised to prevent complications.

Matched MeSH terms: Ischemia/congenital*

Fulltext The leopard (multiple lentigines) syndrome: a case report

Ting HC, Ng SC

Med J Malaysia, 1983 Jun;38(2):98-101.

PMID: 6621454

A case of the leopard (multiple lentigines) syndrome is described. To our knowledge this is the first documented case of this rare but interesting syndrome to be reported in this country.

Matched MeSH terms: Heart Defects, Congenital/complications*

Fulltext Congenital (Bochdalek) diaphragmatic hernia: problems in diagnosis and management

Laidin AZ, Al Rashid Z, Mohd Nor M

Med J Malaysia, 1984 Sep;39(3):185-91.

PMID: 6544919

A review of 24 children with posterolateral (Bochdalek) diaphragmatic hernia over a five-year period was carried out to highlight the problems of diagnosis and' management. Nine children were delivered in the Maternity Hospital Kuala Lumpur, giving an incidence of 1:10,000 live births which is half the expected incidence. Difficulty in diagnosis is apparent from the large number of initially misdiagnosed cases (29%) and those not detected
soon after birth (71% diagnosed after 24 hours). Less than half the babies had associated anomalies, commonest being malrotation and ipsilateral lung hypoplasia. Mortality (20.8%) appears to be related to the degree of lung hypoplasia and shunting, and the birthweight of the babies. Current evidence indicates that pulmonary hypertension is the main factor in the chain of events beginning with lung hypoplasia, which ultimately leads to their demise. Various methods to overcome this complication have been evolved which appear to give some hope for these high-risk infants.

Matched MeSH terms: Hernias, Diaphragmatic, Congenital*

Dystocia caused by congenital hydronephrosis

Ng KH, Sivanesan S

Med J Malaysia, 1973 Dec;28(2):118-9.

PMID: 4276267

Matched MeSH terms: Hydronephrosis/congenital*

Contrast echocardiogram in diagnosing rare type of persistent left superior vena cava

Koay HS, Anis M, Mokhtar SA

Med J Malaysia, 2018 12;73(6):413-414.

PMID: 30647217

We report a rare case of persistent left superior vena cava (PLSVC) with direct drainage into the left atrium in a 3-yearsold boy who had been electively admitted for hypospadias repair, when he was noticed to have finger clubbing and mild hypoxia but was otherwise asymptomatic. The diagnosis of PLSVC can be made without an invasive tool as direct drainage of PLSVC into the left atrium be visualised using transthoracic echocardiography (TTE) by injecting agitated saline into the left arm.

Matched MeSH terms: Heart Defects, Congenital/diagnosis

On consanguineous marriages and the genetic load

Chakraborty R, Chakravarti A

Hum Genet, 1977 Apr 07;36(1):47-54.

PMID: 870410

It has been reported that studies of the genetic consequences of inbreeding should adopt a different strategy in populations having a relatively old inbreeding history and where inbreeding levels have varied over time. This contention is tested with a series of 39,495 single-birth records from Bombay, India, collected in a World Health Organization survey on congenital malformations. Our analysis reveals that: 1. the incidence of major malformations is significantly higher among the inbred offspring (1.34%) as compared to that among non-inbred ones (0,81%)--a finding at variance with a previous study in the same area; 2. the inbreeding effect on perinatal mortality (stillbirths and mortality during the first few days of life) is also found to be significant. In view of the above findings, the genetic load as disclosed by inbreeding is computed for perinatal mortality, major malformations and pooling these together. A + B, the measure of the number of lethal equivalents per gamete, is found to be at variance with other reports. Such variability can be ascribed to non-genetic factors. Supporting evidence collected from Brazil and Malaysia in the same survey is also presented.

Matched MeSH terms: Congenital Abnormalities/epidemiology

Paediatric cataract surgery in Hospital Kuala Lumpur - A 5-year review of visual outcomes

Chew FLM, Qurut SE, Hassan I, Lim ST, Ramasamy S, Rahmat J

Med J Malaysia, 2019 02;74(1):15-19.

PMID: 30846656

INTRODUCTION: Paediatric cataract surgery is challenging with reported post-operative visual acuity (VA) of 0.3LogMar or better varying between 33% to 68% of patients.

OBJECTIVE: The aim is to document the post-operative refraction, VA and complications of non-traumatic pediatric cataract surgery performed in a tertiary referral center in Malaysia.

METHODOLOGY: This retrospective study reviewed case notes of all consecutive patients aged 12 years and below who underwent cataract surgery from January 2010 to December 2015. Patients were recruited if they had a minimum of six months post-operative follow-up. Exclusion criteria included traumatic cataract, central nervous system abnormalities, incomplete medical records or pre-existing ocular pathology. Subjects were divided into two groups based on refraction at one month. Subjects with refraction within 1- dioptre of the targeted spherical equivalent were in the success group and the rest were in the failure group.

RESULTS: A total of 111 subjects were recruited (65 subjects in success group and 46 subjects in the failure group). Mean age at surgery was 33.14 (SD: 33.47) months. The success group had significantly longer axial length (p:0.0045, CI: 0.566-0.994, OR: 0.750). At final review, 44.1%(49/111) subjects had visual acuity of 0.3LogMar or better. The success group had better final mean VA in comparison to the failure group (p:0.034, CI:1.079-7.224, OR: 2.791).

CONCLUSION: The outcome of non-traumatic paediatric cataract surgery was acceptable with 58.6% achieved targeted refractive correction at 1-month post-operative period. Longer axial length was associated with better refractive outcome. Capsule related complications was the most common intra-operative complication.

Matched MeSH terms: Cataract/congenital

Fulltext Anomalous right pulmonary artery from aorta, surgical approach case report and literature review

Alhawri K, Alakhfash A, Alqwaee A, HassabElnabi M, Ahmed F, Alhawri M, et al.

J Card Surg, 2021 Aug;36(8):2890-2900.

PMID: 34047395 DOI: 10.1111/jocs.15618

BACKGROUND: Anomalous origin of one pulmonary artery from the aorta is a rare congenital anomaly affecting the right pulmonary artery more than the left. These patients are at risk for the early development of significant pulmonary hypertension. Early surgical treatment has been proven safe with excellent results. The surgical approach and technique is challenging and should be decided ahead before the patient to surgery. Different techniques were described including direct reimplantation, conduit interposition, aortic ring flap.

AIM: We present a neonate with anomalous origin of the right pulmonary artery from the aorta and discuss the surgical technique and complications in the literature.

Matched MeSH terms: Heart Defects, Congenital*

"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

Endemic goitre in Sarawak, Malaysia: I. Somatic growth and aetiology

Maberly GF, Eastman CJ

Southeast Asian J. Trop. Med. Public Health, 1976 Sep;7(3):434-42.

PMID: 1030847

A comparative epidemiological and anthropometric survey was conducted among Ibans, the largest indigenous ethnic group in Sarawak, in three regions where the endemicity of goitre exhibited marked differences , to assess the effect of endemic goitre on somatic growth. In the Ai river region the prevalence of goitre was 99.5%; 35% having grade 3 goitres, 55% grade 2 goitres and 9.5% grade 1 goitres. At Rubu the prevalence of endemic goitre was 74%; 3% having grade 3 goitre, 16% grade 2 goitre and 55% grade 1 goitre. In the Bajong region relatively few people were detected with goitre and most of these had migrated from other regions. Neurological cretinism was estimated at 3.6% in the severely goitrous Ai river population but was not detected in the other regions. Anthropometric data obtained from the three adult populations did not reveal any statistically significant differences in the following parameters: weight, height, weight/height ratio, height/sitting height ratios, head circumference, scapular skinfold thickness and left mid arm muscle circumference. The haemoglobin, serum total protein and serum albumin concentrations were similar in the three populations. It is concluded that endemic goitre occurs with a frequency of close to 100% in certain Iban populations which represents one of the highest incidences of endemic goitre in the world. Neurological cretinism is common in this population. Our observations suggest that body proportions and somatic growth do not vary among similar ethnic populations exhibiting greatly different endemicity of goitre. Although no iodine balance studies were performed, assessment of diets suggested that iodine deficiency is a significant contributory factor in the development of endemic goitre in Sarawak. Urgent attention to iodine supplementation is indicated to prevent the development of endemic goitre and neurological cretinism.

Matched MeSH terms: Congenital Hypothyroidism/epidemiology

An unusual cause of hypothyroidism (following excision of lingual thyroid) in a Chinese boy

Cheah JS, Loh FK

Med J Malaysia, 1973 Mar;27(3):217-9.

PMID: 4268928

Matched MeSH terms: Congenital Abnormalities/surgery

A case of pneumoperitoneum in a new-born child

Radhamanalan D, Isaac T

Med J Malaysia, 1979 Mar;33(3):272-3.

PMID: 522735

Matched MeSH terms: Pneumoperitoneum/congenital*

Chronic haemolytic anaemia; a report of three cases of Cooley's anaemia and five cases of acholuric jaundice seen in Malaya with a discussion on the differential diagnosis

FIELD CE, TAN EE

Med J Malaya, 1955 Sep;10(1):60-82.

PMID: 13287496

Matched MeSH terms: Anemia, Hemolytic, Congenital/diagnosis*

Protein loosing enteropathy after Fontan procedure

Vijayaraghavan R, Thay WY

Med J Malaysia, 2018 06;73(3):175-176.

PMID: 29962503 MyJurnal

Fontan and Baudet described the procedure in 1971 and was very useful to improve the quality of life in many complex cyanotic heart diseases. It has gone through various modifications since then to improve the outcome. The mortality was reported as 2.1% and survival rate of at 5 years, 10 years, 15 years and 20 years were 91%, 80%, 73%and 69% respectively. Though it was a useful palliative procedure to improve the quality of life, it has complications which may affect the morbidity and mortality like Protein loosing enteropathy ,reduced exercise capacity thromboembolism. The patients with protein losing enteropathy present with Pleural effusion, ascites, and edema and they need periodic replacement of Albumin and frequent reviews and close follow up in the management to reduce the mortality and to improve the quality of life .These complications we come across and they need our support in the management at district level hospitals.

Matched MeSH terms: Heart Defects, Congenital/surgery

Fulltext The entrapped twin: a case of fetus-in-fetu

Yaacob R, Zainal Mokhtar A, Abang Jamari DZH, Jaafar N

BMJ Case Rep, 2017 Sep 23;2017.

PMID: 28942402 DOI: 10.1136/bcr-2017-220801

Fetus-in-fetu (FIF) is a rare entity in which malformed parasitic twin grows inside the body of its twin. It is most commonly presented with mass in the abdomen. We present a case of a 15-year-old boy who presented with abdominal mass since infancy. Radiological investigations are suggestive of FIF. Intraoperatively, malformed fetus in a sac was found and excised. Postoperatively the patient recovers well and was put on follow-up.

Matched MeSH terms: Congenital Abnormalities/surgery

Congenital arhinia - First published case in Malaysia

Ng RL, Rajapathy K, Ishak Z

Med J Malaysia, 2017 10;72(5):308-310.

PMID: 29197888 MyJurnal

Congenital arhinia is one of the rare craniofacial malformation that may cause severe respiratory distress at birth due to upper airway obstruction. Our patient, whose abnormalities were only detected after delivery in our centre, is the first reported case of congenital arhinia in Malaysia. Contrary to popular belief that neonates are obligate nasal breather, our patient adapted well to breathing through mouth before an elective tracheostomy was performed on day four of life.

Matched MeSH terms: Congenital Abnormalities/physiopathology*

Fulltext ECMO in children post cardiac surgery-opportunity for redress

Alwi M

Anatol J Cardiol, 2017 12;18(6):431-432.

PMID: 29256879 DOI: 10.14744/AnatolJCardiol.2017.26116

Matched MeSH terms: Heart Defects, Congenital*

Fulltext Ebstein's malformation of the tricuspid valve--a report of six cases

Danaraj TJ, LaBrooy EB

Singapore Med J, 1960 Mar;1(1):16-32.

PMID: 13719549

Six cases of Ebstein's malformation are reported. The notable clinical features seen in four patients were gross enlargement of the
heart, venous congestion and marked hepatosplenomegaly. There was complete heart block in one patient and auricular fibrillation in the remaining three. The unusual pathologic features in the four cases that came to necropsy were the large pericardial effusions associated with the cardiomegaly, the absence of an atrial septal defect or patent foramen ovale, the gross enlargement of liver with cirrhotic changes and the large spleen. Histologic examination of heart muscle revealed certain unusual features which are described.

Matched MeSH terms: Heart Defects, Congenital*

Fulltext Prevalence and risk factors of gestational diabetes mellitus in Asia: a systematic review and meta-analysis

Lee KW, Ching SM, Ramachandran V, Yee A, Hoo FK, Chia YC, et al.

BMC Pregnancy Childbirth, 2018 Dec 14;18(1):494.

PMID: 30547769 DOI: 10.1186/s12884-018-2131-4

BACKGROUND: Gestational diabetes mellitus (GDM) is a of the major public health issues in Asia. The present study aimed to determine the prevalence of, and risk factors for GDM in Asia via a systematic review and meta-analysis.

METHODS: We systematically searched PubMed, Ovid, Scopus and ScienceDirect for observational studies in Asia from inception to August 2017. We selected cross sectional studies reporting the prevalence and risk factors for GDM. A random effects model was used to estimate the pooled prevalence of GDM and odds ratio (OR) with 95% confidence interval (CI).

RESULTS: Eighty-four studies with STROBE score ≥ 14 were included in our analysis. The pooled prevalence of GDM in Asia was 11.5% (95% CI 10.9-12.1). There was considerable heterogeneity (I2 > 95%) in the prevalence of GDM in Asia, which is likely due to differences in diagnostic criteria, screening methods and study setting. Meta-analysis demonstrated that the risk factors of GDM include history of previous GDM (OR 8.42, 95% CI 5.35-13.23); macrosomia (OR 4.41, 95% CI 3.09-6.31); and congenital anomalies (OR 4.25, 95% CI 1.52-11.88). Other risk factors include a BMI ≥25 kg/m2 (OR 3.27, 95% CI 2.81-3.80); pregnancy-induced hypertension (OR 3.20, 95% CI 2.19-4.68); family history of diabetes (OR 2.77, 2.22-3.47); history of stillbirth (OR 2.39, 95% CI 1.68-3.40); polycystic ovary syndrome (OR 2.33, 95% CI1.72-3.17); history of abortion (OR 2.25, 95% CI 1.54-3.29); age ≥ 25 (OR 2.17, 95% CI 1.96-2.41); multiparity ≥2 (OR 1.37, 95% CI 1.24-1.52); and history of preterm delivery (OR 1.93, 95% CI 1.21-3.07).

CONCLUSION: We found a high prevalence of GDM among the Asian population. Asian women with common risk factors especially among those with history of previous GDM, congenital anomalies or macrosomia should receive additional attention from physician as high-risk cases for GDM in pregnancy.

TRIAL REGISTRATION: PROSPERO (2017: CRD42017070104 ).

Matched MeSH terms: Congenital Abnormalities/epidemiology*

Fulltext Maternal use of drug substrates of placental transporters and the effect of transporter-mediated drug interactions on the risk of congenital anomalies

Daud AN, Bergman JE, Oktora MP, Kerstjens-Frederikse WS, Groen H, Bos JH, et al.

PLoS One, 2017;12(3):e0173530.

PMID: 28288183 DOI: 10.1371/journal.pone.0173530

BACKGROUND: A number of transporter proteins are expressed in the placenta, and they facilitate the placental transfer of drugs. The inhibition of P-glycoprotein (P-gp) was previously found to be associated with an increase in the risk of congenital anomalies caused by drug substrates of this transporter. We now explore the role of other placental transporter proteins.

METHODS: A population-based case-referent study was performed using cases with congenital anomalies (N = 5,131) from EUROCAT Northern Netherlands, a registry of congenital anomalies. The referent population (N = 31,055) was selected from the pregnancy IADB.nl, a pharmacy prescription database.

RESULTS: Ten placental transporters known to have comparable expression levels in the placenta to that of P-gp, were selected in this study. In total, 147 drugs were identified to be substrates, inhibitors or inducers, of these transporters. Fifty-eight of these drugs were used by at least one mother in our cases or referent population, and 28 were used in both. The highest user rate was observed for the substrates of multidrug resistance-associated protein 1, mainly folic acid (6% of cases, 8% of referents), and breast cancer resistance protein, mainly nitrofurantoin (2.3% of cases, 2.9% of referents). In contrast to P-gp, drug interactions involving substrates of these transporters did not have a significant effect on the risk of congenital anomalies.

CONCLUSIONS: Some of the drugs which are substrates or inhibitors of placental transporters were commonly used during pregnancy. No significant effect of transporter inhibition was found on fetal drug exposure, possibly due to a limited number of exposures.

Matched MeSH terms: Congenital Abnormalities/metabolism*

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