MyMedR

Fulltext Congenital chloride diarrhoea in a Malay child

Norzila MZ, Azizi BH

Med J Malaysia, 1994 Mar;49(1):102-4.

Congenital chloride diarrhoea is a rare disorder mainly reported in Finland. A Malay child with congenital chloride diarrhoea presenting at six months of age with watery stools from birth and failure to thrive is reported.

Matched MeSH terms: Diarrhea, Infantile/congenital*; Water-Electrolyte Imbalance/congenital*

Fulltext The Risk of Congenital Heart Anomalies Following Prenatal Exposure to Serotonin Reuptake Inhibitors-Is Pharmacogenetics the Key?

Daud AN, Bergman JE, Kerstjens-Frederikse WS, Groen H, Wilffert B

Int J Mol Sci, 2016 Aug 13;17(8).

PMID: 27529241 DOI: 10.3390/ijms17081333

Serotonin reuptake inhibitors (SRIs) are often prescribed during pregnancy. Previous studies that found an increased risk of congenital anomalies, particularly congenital heart anomalies (CHA), with SRI use during pregnancy have created concern among pregnant women and healthcare professionals about the safety of these drugs. However, subsequent studies have reported conflicting results on the association between CHA and SRI use during pregnancy. These discrepancies in the risk estimates can potentially be explained by genetic differences among exposed individuals. In this review, we explore the potential pharmacogenetic predictors involved in the pharmacokinetics and mechanism of action of SRIs, and their relation to the risk of CHA. In general, the risk is dependent on the maternal concentration of SRIs and the foetal serotonin level/effect, which can be modulated by the alteration in the expression and/or function of the metabolic enzymes, transporter proteins and serotonin receptors involved in the serotonin signalling of the foetal heart development. Pharmacogenetics might be the key to understanding why some children exposed to SRIs develop a congenital heart anomaly and others do not.

Matched MeSH terms: Heart Defects, Congenital/chemically induced*; Heart Defects, Congenital/genetics*

Enamel defects in a fluoridated south-east Asian community

Chellappah NK, Vignehsa H, Lo GL

Aust Dent J, 1990 Dec;35(6):530-5.

PMID: 2090085

The prevalence and distribution patterns of enamel defects in maxillary incisors was assessed in 194 Singaporean children aged 11-15 years and belonging to three different ethnic groups. All were born and continuously resident in Singapore, which has a tropical climate. The water supply was fluoridated in 1957 at a level of 0.7 ppm. The mouth prevalence of defects was 71.5 per cent and the tooth prevalence was 55.9 per cent; 82 per cent of all affected teeth demonstrated white lesions of various forms. Although there was no sex difference in the prevalence and distribution pattern of defects, some racial differences were observed. The results were compared with data from other studies where the same classification of defects was used.

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

Quality of life of Malaysian children with CHD

Ong LC, Teh CS, Darshinee J, Omar A, Ang HL

Cardiol Young, 2017 Sep;27(7):1306-1313.

PMID: 28260550 DOI: 10.1017/S1047951117000166

OBJECTIVES: The objectives of this study were to compare the quality-of-life scores of Malaysian children with CHD and their healthy siblings, to determine the level of agreement between proxy-reports and child self-reports, and to examine variables that have an impact on quality of life in those with CHD.

METHODS: Parental-proxy scores of the Pediatric Quality of Life Inventory 4.0 core scales were obtained for 179 children with CHD and 172 siblings. Intra-class coefficients were derived to determine the levels of proxy-child agreement in 66 children aged 8-18 years. Multiple regression analysis was used to determine factors that impacted Pediatric Quality of Life Inventory scores.

RESULTS: Proxy scores were lower in children with CHD than siblings for all scales except physical health. Maximum differences were noted in children aged 5-7 years, whereas there were no significant differences in the 2-4 and 13-18 years age groups. Good levels of proxy-child agreement were found in children aged 8-12 years for total, psychosocial health, social, and school functioning scales (correlation coefficients 0.7-0.8). In children aged 13-18 years, the level of agreement was poor to fair for emotional and social functioning. The need for future surgery and severity of symptoms were associated with lower scores.

CONCLUSION: Differences in proxy perception of quality of life appear to be age related. The level of proxy-child agreement was higher compared with other reported studies, with lower levels of agreement in teenagers. Facilitating access to surgery and optimising control of symptoms may improve quality of life in this group of children.

Matched MeSH terms: Heart Defects, Congenital/physiopathology; Heart Defects, Congenital/psychology*

Balloon dilatation of congenital mitral stenosis in a critically ill infant

Abdul Aziz B, Alwi M

Catheter Cardiovasc Interv, 1999 Oct;48(2):191-3.

PMID: 10506777

We report a case of a 14-month-old-infant with severe congenital mitral stenosis who presented with pulmonary oedema, acute renal failure and haemodynamic instability. Balloon dilatation was successfully performed under fluoroscopic and transesophageal echocardiographic guidance. Cathet. Cardiovasc. Intervent. 48:191-193, 1999.

Matched MeSH terms: Heart Failure/congenital; Mitral Valve Stenosis/congenital*

Mutational characterization of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Malaysia

Balraj P, Lim PG, Sidek H, Wu LL, Khoo AS

J. Endocrinol. Invest., 2013 Jun;36(6):366-74.

PMID: 23027774 DOI: 10.3275/8648

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is a common autosomal recessive disorder. Our objective was to identify the 21-hydroxylase active gene, CYP21A2 mutations in Malaysian 21-OHD patients using different techniques.

Matched MeSH terms: Adrenal Hyperplasia, Congenital/genetics*; Adrenal Hyperplasia, Congenital/epidemiology

Stenting the patent ductus arteriosus in duct-dependent pulmonary circulation: techniques, complications and follow-up issues

Alwi M

Future Cardiol, 2012 Mar;8(2):237-50.

PMID: 22413983 DOI: 10.2217/fca.12.4

Maintaining ductal patency in duct-dependent congenital heart lesions by implantation of coronary stents is an alternative to systemic pulmonary shunt in selected cases and lesions with suitable anatomy. This article focuses on the procedure as the initial palliation in duct-dependent pulmonary circulation, its associated pitfalls and complications. A good understanding of the diverse duct morphology is paramount prior to stenting of the ductus. Long tortuous duct, insufficiently constricted ductus at the pulmonary end and ductus with associated branch pulmonary artery stenosis at the site of insertion are not suitable for stenting. Durability of palliation is generally inferior to a surgical shunt and this may dictate earlier definitive surgical repair. Acceleration of branch pulmonary artery stenosis in certain ductal morphology limits its general applicability. Bioabsorbable and biodegradable stents may offer some solution to this problem.

Matched MeSH terms: Heart Defects, Congenital/surgery; Heart Defects, Congenital/therapy

Large anomalous systemic arterial supply to the left lung without pulmonary sequestration: a rare cause of heart failure in a child

Wong MN, Joshi P, Sim KH

Pediatr Cardiol, 2009 Jan;30(1):85-6.

PMID: 18663510 DOI: 10.1007/s00246-008-9287-z

A 10-month-old boy was referred for tachypnea and heart murmur. An echocardiogram showed unexplained left heart dilation without evidence of an intracardiac shunt. A 64-slice computed tomographic contrast-enhanced angiography showed a large tortuous anomalous artery arising from the descending thoracic aorta and supplying the lower lobe of the left lung. The venous return into the left atrium was normal. The affected lobe had normal lung parenchyma, and its bronchial tree was connected normally with the left main bronchus. Hence, it was not a sequestrated lobe. The boy underwent surgical lobectomy of the left lower lobe and improved. Anomalous arterial supply of a lobe without sequestration of its bronchial tree is a rare pathologic entity. It also is a very rare cause of congestive heart failure in children. Computed tomographic angiography was a useful tool for evaluation of the intrathoracic anomalous vessel in this case.

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

G6PD deficiency with hemolytic anemia due to a rare gene deletion--a report of the first case in Malaysia

Ainoon O, Boo NY, Yu YH, Cheong SK, Hamidah HN

Hematology, 2006 Apr;11(2):113-8.

PMID: 16753852 DOI: 10.1080/10245330500155184

A 2-year-old Chinese boy was referred to Hospital UKM for investigation of recurrent episodes of dark-coloured urine and pallor since birth. He was born prematurely at 34 weeks gestation and developed severe early-onset neonatal jaundice requiring exchange blood transfusion. Screening at birth showed Glucose-6-phosphate dehydrogenase (G6PD) deficiency. On admission, physical examination revealed pallor, jaundice and mild hepatomegaly. Results of laboratory investigations showed a hemoglobin level of 11.0 g/dl with a hemolytic blood picture, reticulocytosis of 20% and red cell G6PD activity reported as undetectable. The patient's DNA was analysed for G6PD mutations by PCR-based techniques and DNA sequencing and results showed a 24 bp deletion of nucleotide 953-976 in the exon 9 of the G6PD gene. DNA analysis was also performed on blood samples of the patient's mother and female sibling confirming their heterozygous status, although both showed normal red cell G6PD activity levels. The patient was discharged well and his parents were appropriately advised on the condition and the importance of taking folic acid regularly. This is a first case report in Malaysia of G6PD deficiency causing chronic-hemolytic anemia. The rare 24 bp deletion causes the G6PD Nara variant, previously reported only in two other unrelated males, a Japanese and a Portuguese both with chronic hemolytic anemia.

Matched MeSH terms: Anemia, Hemolytic, Congenital Nonspherocytic/diagnosis; Anemia, Hemolytic, Congenital Nonspherocytic/genetics*

Patients with congenital hypothyroidism demonstrate different altered expression of plasma fibrinogen and haptoglobin polypeptide chains

Yong PH, Junit SM, Harun F, Hashim OH

Clin Biochem, 2006 Feb;39(2):126-32.

PMID: 16412408

To compare the plasma protein profiles of treated and untreated congenital hypothyroidism (CH) patients with those of normal control infants.

Matched MeSH terms: Congenital Hypothyroidism/blood*; Congenital Hypothyroidism/drug therapy

[Bidirectional Glenn shunt without cardiopulmonary bypass]

Maeba S, Nemoto S, Hamdan L, Okada T, Azhari M

Kyobu Geka, 2006 Nov;59(12):1075-8.

PMID: 17094543

From April 2002 to March 2005, 18 patients having undergone bidirectional Glenn shunt (BDG) without cardiopulmonary bypass (CPB) [off-pump BDG] were retrospectively reviewed. During BDG anastomosis, a temporary bypass was established between superior vena cava (15) or innominate vein (3) and main pulmonary artery (16) or right atrium (2). Hemodynamics and oxygenation were maintained well throughout the temporary bypass time. There was no emergent use of CPB. Mean transpulmonary pressure gradient immediately after and 24 hours after the BDG were 6.7 and 5.6 mmHg, respectively. Echocardiography showed mild flow turbulence at the anastomosis in 1 case. This simple and inexpensive technique provided good surgical view with stable hemodynamics enabling satisfactory BDG in selected cases. Furthermore, it could avoid adverse effects of CPB such as lung injury and possible blood transfusion. This experience would encourage off-pump BDG combined with more challenging procedures.

Matched MeSH terms: Heart Defects, Congenital/physiopathology; Heart Defects, Congenital/surgery*

Congenital dyserythropoietic anaemia type II-like dysplastic anaemia preceding the development of non-Hodgkin lymphoma--a case report

Leong CF, Zainina S, Cheong SK

Malays J Pathol, 2005 Jun;27(1):39-43.

PMID: 16676692

Anaemia is a frequent complication in patients with haematological malignancies and is caused by a variety of mechanisms including neoplastic cell infiltration into the bone marrow, haemolysis, nutritional deficiencies and defect in erythropoiesis or dysplastic anaemia as a result of the disease itself. However, acquired dysplastic anaemia which mimic congenital dyserythropoietic anaemia (CDA) type II morphology in the bone marrow is very rare. A 41-year-old Chinese man presented with refractory symptomatic anaemia in September 2001. He was clinically pale with no other significant physical finding. His initial peripheral blood picture showed normochromic normocytic anaemia with haemoglobin level of 26g/L, with no evidence of haemolysis and a poor reticulocyte response of 0.6%. Bone marrow aspiration was done and showed congenital dyserythropoietic anaemia (CDA) type II-like morphology. He was treated symptomatically with regular blood transfusions approximately every 3 weeks, until August 2002 when he developed multiple cervical lymphadenopathy with loss of appetite, loss of weight and low grade fever. Biopsy of the lymph node confirmed the diagnosis of small lymphocytic lymphoma. Staging with computed tomography and bone marrow aspirate revealed the infiltration of lymphoma cells into the marrow cavity consistent with the staging of IVB. This case report illustrates that CDA type II-like dysplastic anaemia can preceed the development of lymphoma.

Matched MeSH terms: Anemia, Dyserythropoietic, Congenital/pathology*; Anemia, Dyserythropoietic, Congenital/physiopathology

Fulltext Audit of birth defects in 34,109 deliveries in a tertiary referral center

Noraihan MN, See MH, Raja R, Baskaran TP, Symonds EM

Med J Malaysia, 2005 Oct;60(4):460-8.

PMID: 16570708

The objective of the study is to determine the proportion and different types of birth defects among the children born in Hospital Kuala Lumpur. A cross-sectional study was conducted for a period of 18 months where all consecutively born infants, dead or alive were included. There were total of 34,109 births recorded during this period. The proportion of birth defects in Hospital Kuala Lumpur was 3.1% (n = 1056). The commonest involved were the hematology system, (157.7 per 10,000 births), the central nervous system, genitourinary system and chromosomal anomalies. The proportion was significantly higher in males and in the Chinese (p < 0.001). The commonest abnormalities are Glucose 6 Phosphate Deficiency (157.7/10000), Down's syndrome (12.6/10000), thalassaemia (8.8/10000), cleft lip and/or palate (7.6/10000) and anencephaly (7.3/10000). Neural tube defect is common and ranked second after G6PD deficiency. There is a need for a birth defect registry to assess the extent of the problem in Malaysia.

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

Breakage of an intramedullary rod after bone union in congenital pseudoarthrosis of the tibia: a report of two cases

Sulaiman AR, Simbak N, Wan Ismail WF, Wan Z, Halim AS

J Orthop Surg (Hong Kong), 2011 Aug;19(2):250-3.

PMID: 21857057

We report 2 patients with congenital pseudoarthrosis of the tibia who underwent intramedullary Rush rod transfixation through the ankle joint following refracture and nonunion of vascularised fibular grafting 6 and 8 months earlier. After 9 and 5 years, both Rush rods were broken at the level of the ankle joints, while the reconstructed area was solidly united. The growth of the distal tibia increased the distance of the tips of the broken rod and hence the ankle joint motion. The broken tips may damage the articular cartilage and result in valgus deformity of the ankle and limb length discrepancy.

Matched MeSH terms: Pseudarthrosis/congenital*; Tibial Fractures/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

Persistent valve of systemic venous sinus: a cause of neonatal cyanosis

Qureshi AU, Latiff HA, Sivalingam S

Cardiol Young, 2014 Aug;24(4):756-9.

PMID: 24016801 DOI: 10.1017/S1047951113001200

Incomplete involution of valve of systemic venous sinus can present across a spectrum of anatomical lesions ranging from eustachian valve to division of right atrium (cor triatriatum dexter) with overlapping features. We present the case of a neonate presenting with cyanosis, having persistent valve of systemic venous sinus with anatomical details of the redundant tissue in right atrium suggesting an intermediate form between Chiari network and division of right atrium.

Matched MeSH terms: Heart Defects, Congenital/complications; Heart Defects, Congenital/ultrasonography

Fulltext Undiagnosed traumatic diaphragmatic hernia in two cats

Lau , S.F.

Jurnal Veterinar Malaysia, 2016;28(1):12-15.

MyJurnal

Two cases of diaphragmatic hernia in cats caused by road traffic accident were undiagnosed during the initial presentation. Both cats showed no evidence of respiratory distress and clinicians did not notice the diaphragmatic hernia on thoracic radiographs. Later on, both cats showed signs of dyspnea and diaphragmatic hernia was diagnosed with repeated thoracic radiograph and ultrasound. Diaphragmatic hernia is rather common in veterinary practice, however, its diagnosis can be clinically challenging. This case report highlights the importance to re-evaluate and monitor the patient closely after the traffic accident. Repeated radiograph, different diagnostic modalities and techniques such as ultrasound, computed tomography and positive contrast peritoneagraphy should be used in order to diagnose the diaphragmatic hernia conclusively.

Matched MeSH terms: Hernias, Diaphragmatic, Congenital

Fulltext A case report of Goltz syndrome: a newborn with digital anomalies and skin lesions

Lee, Von Yen, Leow, Poy Lee

Malaysian Journal of Paediatrics and Child Health, 2016;22(101):0-0.

MyJurnal

Goltz syndrome or Focal Dermal Hypoplasia (FDH) is an uncommon genetically inherited disorder characterized by distinctive skin abnormalities and a wide variety of multisystem defects which was first described by Goltz (an American dermatologist) in 1962. About 200- 300 cases have been reported worldwide. FDH can be inherited in an X-linked dominant manner with in-utero lethality in males. Majority of the cases are sporadic with new mutations arising in the embryo and not inherited from a parent. Approximately 10% of cases occur in males; postzygotic somatic mosaicism accounts for the findings in these affected males. FDH is caused by abnormalities or mutations at the PORCN gene in the X chromosome. We report a case of FDH with characteristic skin lesions as well as multiple digital anomalies - oligodactyly, syndactyly and ectrodactyly.(Copied from article)

Matched MeSH terms: Limb Deformities, Congenital

Quantitative and qualitative comparison of low- and high-cost 3D-printed heart models

Lau I, Wong YH, Yeong CH, Abdul Aziz YF, Md Sari NA, Hashim SA, et al.

Quant Imaging Med Surg, 2019 Jan;9(1):107-114.

PMID: 30788252 DOI: 10.21037/qims.2019.01.02

Current visualization techniques of complex congenital heart disease (CHD) are unable to provide comprehensive visualization of the anomalous cardiac anatomy as the medical datasets can essentially only be viewed from a flat, two-dimensional (2D) screen. Three-dimensional (3D) printing has therefore been used to replicate patient-specific hearts in 3D views based on medical imaging datasets. This technique has been shown to have a positive impact on the preoperative planning of corrective surgery, patient-doctor communication, and the learning experience of medical students. However, 3D printing is often costly, and this impedes the routine application of this technology in clinical practice. This technical note aims to investigate whether reducing 3D printing costs can have any impact on the clinical value of the 3D-printed heart models. Low-cost and a high-cost 3D-printed models based on a selected case of CHD were generated with materials of differing cost. Quantitative assessment of dimensional accuracy of the cardiac anatomy and pathology was compared between the 3D-printed models and the original cardiac computed tomography (CT) images with excellent correlation (r=0.99). Qualitative evaluation of model usefulness showed no difference between the two models in medical applications.

Matched MeSH terms: Heart Defects, Congenital

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

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