Displaying publications 1 - 20 of 334 in total

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  1. Kinematic comparison of the wrist movements that are possible with a biomechatronics wrist prosthesis and a body-powered prosthesis: a preliminary study
    Abd Razak NA, Abu Osman NA, Wan Abas WA
    Disabil Rehabil Assist Technol, 2013 May;8(3):255-60.
    PMID: 22830946 DOI: 10.3109/17483107.2012.704654
    This study examined the kinematic differences between a body-powered prosthesis and a biomechatronics prosthesis as a transradial amputee performed activities that involve flexion/extension and supination/pronation of the wrist.
    Matched MeSH terms: Upper Extremity Deformities, Congenital/rehabilitation*
  2. 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*
  3. Fulltext Newborn hearing screening: experience in a Malaysian hospital
    Abdullah A, Hazim MY, Almyzan A, Jamilah AG, Roslin S, Ann MT, et al.
    Singapore Med J, 2006 Jan;47(1):60-4.
    PMID: 16397723
    This study aims to determine the prevalence of hearing loss among newborns delivered at Hospital Universiti Kebangsaan Malaysia and to evaluate the usefulness of our hearing screening protocol.
    Matched MeSH terms: Hearing Loss/congenital
  4. Fulltext Congenital diaphragmatic hernia in a post-partum woman
    Abdullah M
    Med J Malaysia, 2003 Mar;58(1):99-101.
    PMID: 14556332
    Congenital diaphragmatic hernia (CDH) is rare in adults. We report a 24 year old woman presenting with shortness of breath, chest pain and nausea after the birth of her first baby. Clinical examination, plain radiography and a CT scan revealed herniation of abdominal contents into her left chest. Via a midline laparotomy, the contents were reduced and the defect repaired, using a mesh. She remains symptom-free three years since her surgery and even after a second childbirth. A brief review of the literature reporting adult diaphragmatic hernia of congenital origin accompanies this case report. We conclude that symptomatic CDH in adults usually presents as an emergency with gastrointestinal and occasionally respiratory complications. Early diagnosis and repair is essential to avoid subsequent morbidity and mortality.
    Matched MeSH terms: Hernias, Diaphragmatic, Congenital*
  5. 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
  6. Fulltext Lethal neonatal dwarfism: a case of achondrogenesis
    Afzal MK, Choo KE
    Med J Malaysia, 1980 Sep;35(1):64-7.
    PMID: 7254002
    Achondrogenesis is a lethal neonatal chondrodysplasia with extreme micromelia and marked discrepancy between the relatively large head and the decreased trunk length. The affected neonates are usually delivered prematurely, and are stillborn or die soon after birth. Polyhydramnios is frequently present. It is an inherited autosomal recessive disease. The radiographic features are diagnostic.
    Matched MeSH terms: Osteochondrodysplasias/congenital*
  7. Fulltext Limb reconstruction surgery with external fixators--university hospital experience
    Aik S, Sengupta S
    Med J Malaysia, 2000 Sep;55 Suppl C:86-92.
    PMID: 11200049
    We are describing 21 limb reconstruction procedures performed in 18 patients with the use of external fixators from 1996 to 1998. The average age of patients was 21, ranging from 1 to 50 years old. Indications for surgery included short limb, non-union, pseudoarthrosis and bone or soft tissue deformities. Average length obtained for cases of limb lengthening was 6 cm. All the seven clubfoot deformities in five children were fully corrected. Equinus deformity recurred in one foot and was treated with supramalleolar osteotomy. Out of the seven cases with infected nonunion and bone loss, three failed to achieve union and required additional bone grafting procedures. One patient with unilateral external fixator for the correction of tibia shortening developed valgus deformity.
    Matched MeSH terms: Limb Deformities, Congenital/radiography; Limb Deformities, Congenital/surgery
  8. 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*
  9. Fulltext Gastric duplication cyst with a red flag presentation: a case report
    Alagoo D, Sellappan H, Jayasilan J, Azizan N, Hayati F
    Pan Afr Med J, 2021;39:141.
    PMID: 34527157 DOI: 10.11604/pamj.2021.39.141.29895
    Gastric duplication cyst (GDC) is a rare congenital malformation of the gastrointestinal (GI) tract. Despite being benign in the entity, its complications vary from an asymptomatic abdominal mass to fulminant or massive GI bleeding. A 28-year-old lady presented with unexplained GI haemorrhage, in which the upper endoscopy showed a classic feature of GI stromal tumour. The preoperative diagnosis was also confirmed by the computed tomography. She subsequently underwent surgical resection and the final histopathology was consistent with a benign entity of GDC.
    Matched MeSH terms: Cysts/congenital
  10. 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*
  11. 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
  12. Fulltext Stenting the ductus arteriosus: Case selection, technique and possible complications
    Alwi M
    Ann Pediatr Cardiol, 2008 Jan;1(1):38-45.
    PMID: 20300236 DOI: 10.4103/0974-2069.41054
    Ductal stenting is an attractive alternative to conventional shunt surgery in duct dependent congenital heart disease as it avoids thoracotomy and its related problems. With today's generation of coronary stents which have better profile, flexibility and trackability, ductal stenting may be achieved safely and with considerably less difficulty than previously described.As in Blalock-Taussig (BT) shunt, ductal stenting is indicated mainly in duct-dependent cyanotic lesions chiefly in the neonatal period. Unlike the Patent ductus arteriosus (PDA) as an isolated lesion, the ductus in cyanotic heart disease has a remarkable morphologic variability. The ductus tends to arise more proximally under the aortic arch, giving rise to a vertical ductus or occasionally it may arise from the subclavian artery. It also tends to be long and sometimes very tortuous, rendering stent implantation technically impossible. The ductus in these patients may also insert onto one of the branch pulmonary arteries with some stenosis at the site of insertion. The ductus in Tetralogy of Fallot with pulmonary atresia (TOF-PA) tend to exhibit these morphologic features and to a lesser degree in transposition of great arteries with ventricular septal defect and pulmonary atresia (TGA-VSD-PA) and the more complex forms of univentricular hearts. In the preliminary angiographic evaluation, it is important to delineate these morphologic features as the basis for case selection.Ductal stenting may be done by the retrograde femoral artery route or the antegrade transvenous route depending on the ductus morphology and the underlying cardiac lesion. The detailed techniques and essential hardware are described. Finally, major potential complications of the procedure are described. Acute stent thrombosis is the most serious and potentially catastrophic. Emergent treatment with thrombolytic therapy and mechanical disruption of thrombus are required. With proper case selection, appropriate technique and the right hardware ductal stenting provides reasonable short-medium term palliation in duct-dependent cyanotic heart disease.
    Matched MeSH terms: Heart Defects, Congenital
  13. Stenting of Lesions in Patent Ductus Arteriosus with Duct-Dependent Pulmonary Blood Flow: Focus on Case Selection, Techniques and Outcome
    Alwi M, Mood MC
    Interv Cardiol Clin, 2013 Jan;2(1):93-113.
    PMID: 28581990 DOI: 10.1016/j.iccl.2012.09.011
    Stenting of patent ductus arteriosus (PDA) is an attractive alternative to the surgical aortopulmonary shunt in the palliation of cyanotic congenital heart disease. However, the diverse morphology of PDA in this setting limits its role, as stenting an overly tortuous duct may not be feasible, and in a significant number of patients, ductus-related pulmonary artery stenosis contraindicates this procedure. The major acute complications are stent migration, thrombosis, and cardiac failure. Early failure of palliation caused by in-stent stenosis is another limitation of this procedure.

    Study site: Institut Jantung Negara (IJN), Kuala Lumpur, Malaysia
    Matched MeSH terms: Heart Defects, Congenital
  14. Pulmonary atresia with intact septum: the use of Conquest Pro coronary guidewire for perforation of atretic valve and subsequent interventions
    Alwi M, Budi RR, Mood MC, Leong MC, Samion H
    Cardiol Young, 2013 Apr;23(2):197-202.
    PMID: 22640635 DOI: 10.1017/S1047951112000595
    Objective: To determine the feasibility and safety of the Conquest Pro wire as an alternative to radiofrequency wire for perforation of atretic pulmonary valve and subsequent balloon dilatation and patent ductus arteriosus stenting in patients with pulmonary atresia with intact ventricular septum.
    Background: Radiofrequency valvotomy and balloon dilatation has become the standard of care for pulmonary atresia with intact ventricular septum in many institutions today.
    Methods: We report eight consecutive patients in whom we used the Conquest Pro coronary guidewire, a stiff wire normally reserved for revascularisation of coronary lesions with chronic total occlusion, for perforation of atretic pulmonary valve and subsequent balloon dilatation, and stenting of the patent ductus arteriosus.
    Results: Perforation of atretic pulmonary valve was successful in seven out of eight cases. Radiofrequency valvotomy was employed after failure of perforation by the Conquest Pro wire in one case where the right ventricular outflow tract was broad based and tapered towards the pulmonary valve, and was heavily trabeculated. Failure of the Conquest Pro wire to perforate the pulmonary valve plate was mainly attributed by the failure to engage the wire at the correct position.
    Conclusion: The Conquest Pro wire for perforation and subsequent interventions in the more straightforward cases of pulmonary atresia with intact ventricular septum is effective and safe, simplifying the entire procedure. However, the radiofrequency generator and wires remain essential tools in the paediatric interventional catheter laboratory.
    Matched MeSH terms: Heart Defects, Congenital/surgery*
  15. 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*
  16. 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*
  17. Fulltext Presacral Extramedullary Haemopoiesis Mimicking an Ovarian Mass
    Amran, A.R., Moosa, F.
    International Medical Journal Malaysia, 2006;5(1):1-6.
    MyJurnal
    Extramedullary hematopoiesis (EH) is a rare but well-known compensatory mechanism of red blood cell production when the normal site of red bone marrow is unable to produce sufficient number of red blood cells. When the body demands for erythrocyte cells is high this lead to EH. This occurs mainly outside the bone marrow, usually paraspinally and sites which are normally observed in the fetus as in the liver, spleen, lymph nodes and less frequently at other sites such as adrenal, thymus, kidneys, pleura, breast, skin, gastrointestinal tract, dura mater and brain.This is more frequent in thalassaemia major (incidence up to 15% of cases), in myelofibrosis, myeloproliferative diseases (polycythemia rubra vera, chronic myeloid leukemia,), hemolytic anemias such as hereditary spherocytosis, pyruvate-kinase deficiency, medullary tuberculosis and in Paget’s disease of the bone. In some cases the cause of the EH are not identified [3]. We describe a case of EH in the presacral space that mimicked an ovarian mass on ultrasound in a patient with beta-thalassaemia intermedia.
    Matched MeSH terms: Anemia, Hemolytic, Congenital
  18. Fulltext Complete congenital third branchial fistula: does the theoretical course apply?
    Aneeza WH, Mazita A, Marina MB, Razif MY
    Singapore Med J, 2010 Jul;51(7):e122-5.
    PMID: 20730387
    The course of a third branchial fistula is derived from its embryological origin, in accordance with the branchial apparatus theory. Treatment of this condition requires complete removal of the tract in order to avoid recurrence; however, this can pose a risk to the surrounding structures. We report the case of a complete third branchial fistula as well as a literature review on its theoretical course and management.
    Matched MeSH terms: Congenital Abnormalities/radiography; Congenital Abnormalities/surgery; Cutaneous Fistula/congenital*
  19. A review of radiation hazards with special reference to diagnostic radiology
    Ang AH
    Med J Malaysia, 1973 Dec;28(2):75-9.
    PMID: 4276302
    Matched MeSH terms: Congenital Abnormalities/etiology
  20. An epidemiological study of developmental dysplasia of the hip in infants in Singapore
    Ang KC, Lee EH, Lee PY, Tan KL
    Ann Acad Med Singap, 1997 Jul;26(4):456-8.
    PMID: 9395810
    The incidence of congenital dislocation of the hip (CDH) in Singapore and Malaysia has been reported as being lower than in the West. In our hospital, we have seen an increasing number of congenital hip dislocation as well as dysplastic hips. We undertook a prospective study from December 1989 to December 1994 of 20,000 live births. The neonates were all screened by a consultant neonatologist and the findings were confirmed by a consultant paediatric orthopaedic surgeon. All babies had plain X-rays at 3 months and an acetabular index (AI) of 30 degrees or more was considered dysplastic. All babies with positive signs were followed up for 1 year and again had radiographs taken at 1 year. Comparison of plain X-rays and ultrasound assessment in a subgroup of 130 neonates showed that 64% of patients with AI > 20 degrees had hip dysplasia by ultrasonographic (alpha angle < 60 degrees) The incidence of dysplastic hips was 16.8 per 1000 live births. The overall incidence of neonates with dislocated hips was 4.7 per 1000 live births. The Malays were most affected with an incidence of 5.4 per 1000 live births. The incidence of developmental dysplasia of the hip in Singapore is higher than previously reported, with the Malays having the highest incidence. A significant number of babies with clicking hips have radiological evidence of acetabular dysplasia (AI > 30 degrees). One-third of the babies' hips were still dysplastic at 1 year of age. A well-organised screening programme with experienced examiners has proved to be useful in making early and accurate clinical diagnosis.
    Matched MeSH terms: Hip Dislocation, Congenital/diagnosis; Hip Dislocation, Congenital/epidemiology*; Hip Dislocation, Congenital/prevention & control
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