Displaying publications 201 - 220 of 336 in total

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  1. Thambi Dorai CR
    Pediatr Surg Int, 2000;16(1-2):128-9.
    PMID: 10663861
    A neonate with umbilical evagination of the bladder (UEB) and omphalocele minor (OM) is reported. The findings in this case support the origin of the urachus from the upper end of the cloaca rather than the allantois. The frequent occurrence of OM with urachal anomalies, including UEB, suggests an embryological association between the two conditions.
    Matched MeSH terms: Urinary Bladder Fistula/congenital
  2. Chua KB, Lam SK, Hooi PS, Chua BH, Lim CT
    Med J Malaysia, 2000 Sep;55(3):299-303.
    PMID: 11200707
    A retrospective review of rubella serological results carried out in the Virus Diagnostic Unit, University Hospital Kuala Lumpur (UHKL) from January 1993 to September 1999 showed the presence of rubella infection annually which appeared to increase periodically every two to three years. There was no statistical significant difference in the rubella positive rate between male and female population aged 14 to 48 years. Congenital rubella infections (CRI) occurred in babies delivered in UHKL yearly from 1993 to 1998 with an average incidence rate of 48 per 100,000 deliveries. Peaks of rubella cases appeared to be followed by an increase in incidence of CRI cases 6 to 9 months later. The study showed that only 50.8% clinically diagnosed rubella was confirmed by laboratory finding. This study also showed an increase of rubella activity for the months of July, August and September 1999 and this may herald an increase of CRI cases in the coming millennium.
    Matched MeSH terms: Rubella/congenital
  3. Mukari SZ, Vandort S, Ahmad K, Saim L, Mohamed AS
    Med J Malaysia, 1999 Mar;54(1):87-95.
    PMID: 10972010
    We surveyed parents of school-aged hearing impaired children to investigate their awareness and knowledge of the special needs of their child, especially in the area of the usage of hearing aids and methods of communication. Questionnaires were distributed to parents of hearing impaired children at 13 special schools for the deaf in Malaysia. Out of 1,267 questionnaires given out, 787 (62.1%) were completed and returned. Results of the survey indicated the majority of parents (68.6%) suspected hearing loss late, that is after their child's first birthday, and there was a significant time lag before the suspicion was confirmed. Over 82.8% of the children were diagnosed only after 1 year of age, with 41.3% being diagnosed after 3 years of age. Hearing aids were fitted late (mean = 5.32 years; SD = 2.66). Hearing aid ownership was influenced by the factors of socio-economic level and ethnic group (p < 0.01) whereas knowledge of use and proper care of the aids was influenced by socio-economic level (p < 0.01). Communication methods were generally inappropriate with 41.3% of the mothers and 48.5% of the fathers reporting ignorance of Bahasa Malaysia Kod Tangan, the sign language that is commonly used by their children. The parents' choice of communication method was not significantly influenced by socio-economic level or ethnic group. The study revealed the present inadequate state of services available for the rehabilitation of children with congenital hearing impairment.
    Matched MeSH terms: Hearing Disorders/congenital*
  4. Quah BS, Indudharan R, Hashim I, Simpson H
    J Pediatr Surg, 1998 Dec;33(12):1817-9.
    PMID: 9869060
    Tracheoesophageal fistula (TEF) without atresia is rare and usually presents with symptoms from birth. In this report, a 9-year-old boy presented with productive cough of 4 month's duration and was shown to have a right lung abscess seen on chest radiograph. His parents denied earlier respiratory symptoms or illnesses. Rigid bronchoscopy showed a fistulous opening of about 1 mm in diameter in the posterior wall of the trachea about 16 cm from the upper incisor teeth. Cannulation with a ureteral catheter demonstrated that the fistulous opening communicated with the esophageal lumen. The tracheoesophageal fistula was 1 cm long and was divided through a right supraclavicular incision. The postoperative period was uneventful, and the patient was discharged on the third postoperative day. This case demonstrated that TEF should be considered in any patient presenting with chronic respiratory problems even after a prolonged symptom-free period.
    Matched MeSH terms: Tracheoesophageal Fistula/congenital
  5. Chye JK, Lim CT, Van der Heuvel M
    Pediatr Surg Int, 1997 Apr;12(4):296-8.
    PMID: 9099650
    Three cases of neonatal chylous ascites (CCA) were managed in the neonatal unit, University Hospital, Kuala Lumpur, over the past 9 years. Fetal ascites and polyhydramnios were the sole abnormalities detected in all three babies by antenatal ultrasonography. They were born at 36 weeks' gestation and their birth weights ranged from 3.0 kg to 3.8 kg. All three infants had abdominal distension at birth. Milky ascitic fluid was obtained after starting enteral feedings. Analysis of the ascitic fluid revealed a raised white blood cell count (predominantly lymphocytic) and triglycerides (1.4 - 3.8 mmol/l), cholesterol (1.6 - 2.8 mmol/l), and protein levels (25 - 41 g/l). Conservative management with skimmed milk and medium-chain triglycerides in one infant and Pregestimil in another was instituted. these two infants with CCA were clinically normal when reviewed at 19 months and 3.5 years of age. The third infant had a gut malrotation and associated pyloric septum; he died from complications of a laparotomy. The literature on this rare condition is reviewed.
    Matched MeSH terms: Chylous Ascites/congenital*
  6. Omar I, Jidon AJ
    Med J Malaysia, 1993 Sep;48(3):364-8.
    PMID: 8183155
    Matched MeSH terms: Limb Deformities, Congenital*
  7. Tan CT, Loh TG, Balasubramaniam P
    Med J Malaysia, 1981 Dec;36(4):230-3.
    PMID: 7334959
    Matched MeSH terms: Dislocations/congenital*
  8. Fong CY, Singham KT
    Med J Malaysia, 1986 Sep;41(3):198-204.
    PMID: 3670135
    The purpose of this study was to assess M-mode echocardiographic criteria for pulmonary artery hypertension in patients with intracardiac shunts, and to observe any signs not previously described.
    Forty-seven consecutive cardiac cathetherised patients with routine M-mode echocardiogram done were reviewed. Twenty-six patients had atrial septal defect, nine had ventricular septal defect (VSD), four had patent ductus arteriosus (PDA), five had Eisenmenger syndrome and three had combined VSD and PDA.
    Fifteen of 20 patients with pulmonary artery mean pressure (PAMP) of more than 50 mmHg demonstrated diminished a-dip (p < 0.001), reduced e-f slope (p < 0.01) and increased b-e slope to > 380 mm/sec (p < 0.01). The presence of systolic flutter or mid-systolic notch, or both was not observed in patients with normal PAMP, but was noted in all of the 20 patients with raised pressure(> 50 mmHg).
    This study confirms the limitation of M-mode echocardiographic features in the evaluation of pulmonary artery hypertension in patients with intracardiac shunt, though clinically useful.
    Matched MeSH terms: Heart Defects, Congenital/physiopathology*
  9. Lal M, Said MY
    Med J Malaysia, 1974 Jun;28(4):283-6.
    PMID: 4278623
    Matched MeSH terms: Duodenal Obstruction/congenital*
  10. Damodaran A, Nair S, Somasundram R
    Med J Malaysia, 1973 Dec;28(2):99-102.
    PMID: 4276265
    Matched MeSH terms: Hernias, Diaphragmatic, Congenital*
  11. Menon R
    Med J Malaya, 1972 Dec;27(2):115-9.
    PMID: 4268036
    Matched MeSH terms: Malaria/congenital
  12. Wong AR, Zilfalil BA, Bhuiyan ZA
    Med J Malaysia, 2019 08;74(4):341-343.
    PMID: 31424047
    Long QT syndrome (LQTS) is predominantly a genetic cardiac arrhythmia disorder. We report here our study on long QT syndrome from two children from Kelantan, Malaysia. Clinical and genetic findings of these two unrelated Malay children with LQTS is discussed. We found a Long QT, type 1 causal mutation, p.Ile567Thr in the KCNQ1 gene in the first child. A pathogenic mutation could not be detected in the second child, explaining the heterogeneity of this disease.
    Matched MeSH terms: Long QT Syndrome/congenital
  13. Tan GJS, Khoo PLZ, Sailesh MK, Chan KMJ
    Med J Malaysia, 2019 02;74(1):67-78.
    PMID: 30846666
    INTRODUCTION: Aortic disease includes conditions such as chronic aortic aneurysms, acute aortic syndromes and congenital aortic abnormalities, amongst others. This paper reviews all research on aortic disease performed in Malaysia and published between 2000-2016.

    METHODS: A literature search was conducted in PubMed, Scopus, MyJurnal and the UKM Journal Repository. The search process was based on a previously published methodology. The medical subject headings (MeSH) search terms used were "aortic", "aorta" and "Malaysia".

    RESULTS: Two-hundred-thirteen papers were identified, of which 60 papers were selected and reviewed on the basis of their relevance. The epidemiology, pathophysiology, clinical presentations, case reports, investigations, treatment and outcomes of aortic disease in Malaysia were reviewed and summarised. The clinical relevance of the studies performed are discussed.

    CONCLUSION: The review provided an insight into the pathophysiology, prevalence and epidemiology of aortic diseases in Malaysia, how the condition is managed, and the outcomes of treatment. Limitations of the research performed in Malaysia to date were identified and recommendations for further research and improvement in clinical practice were recommended.

    Matched MeSH terms: Aortic Diseases/congenital
  14. Zainuddin AA, Grover SR, Abdul Ghani NA, Wu LL, Rasat R, Abdul Manaf MR, et al.
    Health Qual Life Outcomes, 2020 Aug 01;18(1):258.
    PMID: 32738912 DOI: 10.1186/s12955-020-01515-9
    BACKGROUND: This study investigates the health-related quality of life (HRQOL) of female patients with congenital adrenal hyperplasia (CAH) in Malaysia. The objectives were to attain socio-demographic and medical data on these Malaysian females with CAH and establish their health-related quality of life (HRQOL) in comparison to age matched diabetic controls.

    METHODS: A cross-sectional study was conducted over 6 months in the two main tertiary centres for CAH patients in Malaysia. Participants including 59 female-raised CAH patients (mean age ± SD = 16.3 ± 4.2 years, range 10-28 years) compared to 57 age-matched female diabetic patients (mean age ± SD = 16.5 ± 3.4 years, range 10-26 years). Socio-demographic and medical profiles was obtained through semi-structured interviews. HRQOL of participants were evaluated utilising validated, Malay translated questionnaires which were age appropriate: Pediatric Quality of Life Inventory (PedsQL v4.0) scales for Child (8-12) and Adolescent (13-18) and Medical Outcome Survey 36-item Short Form version. These were then compared to the diabetic controls.

    RESULTS: The CAH participants consisted of children (ages 10-12 years, n = 12), adolescents (ages 13-17 years, n = 29) and adults (≥ 18 years, n = 18). The majority were Malays (64.4%) and had salt-wasting CAH (67.8%). There were no significant differences between the total mean score of the HRQOL of the combined children and adolescents CAH group (total mean score ± SD = 81.6 ± 17.9, 95% CI = 75.6-87.6) when compared to age-matched diabetic patients (total mean score ± SD = 80.8 ± 11.0, 95% CI = 77.0-84.5, P = 0.81, effect size = 0.05); no significant difference between the adult CAH and diabetic controls in the physical [median score (IQR) CAH vs diabetics; 49.3 (11.4) vs. 50.2 (6.1), P = 0.60, effect size = 0.09] and the mental composite scores [median score (IQR) CAH vs. diabetics; 47.8 (14.1) vs. 50.0 (10.8), P = 0.93, effect size = 0.01].

    CONCLUSIONS: The HRQOL of the Malaysian CAH cohort were comparable to the diabetic controls.

    Matched MeSH terms: Adrenal Hyperplasia, Congenital/psychology*
  15. Wong TS, Abu Bakar J, Chee KH, Hasan MS, Chung WH, Chiu CK, et al.
    Spine (Phila Pa 1976), 2019 02 15;44(4):E252-E257.
    PMID: 30086081 DOI: 10.1097/BRS.0000000000002828
    STUDY DESIGN: Case report.

    OBJECTIVE: To describe the technical difficulties on performing posterior spinal fusion (PSF) on a pacemaker-dependent patient with complete congenital heart block and right thoracic scoliosis.

    SUMMARY OF BACKGROUND DATA: Congenital complete heart block requires pacemaker implantation at birth through thoracotomy, which can result in scoliosis. Corrective surgery in this patient was challenging. Height gain after corrective surgery may potentially cause lead dislodgement. The usage of monopolar electrocautery may interfere with the function of the implanted cardiac device.

    METHODS: A 17-year-old boy was referred to our institution for the treatment of right thoracic scoliosis of 70°. He had underlying complete congenital heart block secondary to maternal systemic lupus erythematosus. Pacemaker was implanted through thoracotomy since birth and later changed for four times. PSF was performed by two attending surgeons with a temporary pacing inserted before the surgery. The monopolar electrocautery device was used throughout the surgery.

    RESULTS: The PSF was successfully performed without any technical issues and complications. Postoperatively, his permanent pacemaker was functioning normally. Three days later, he was recovering well and was discharged home from hospital.

    CONCLUSION: This case indicates that PSF can be performed successfully with thoughtful anticipation of technical difficulties on a pacemaker-dependent patient with underlying congenital heart block.

    LEVEL OF EVIDENCE: 5.

    Matched MeSH terms: Heart Block/congenital*
  16. Omar PM, Lim WT, Ting YH, Lao TT, Law KM, Cheung AHK, et al.
    J Matern Fetal Neonatal Med, 2019 Oct;32(19):3315-3317.
    PMID: 29631451 DOI: 10.1080/14767058.2018.1459556
    The association between hypoechoic hepatomegaly in the third trimester and transient abnormal myelopoiesis (TAM) was reported previously in six fetuses with trisomy 21 (T21). We report a series of three cases of T21 in which hypoechoic liver (HL) was found in the second trimester but without evidence of TAM on both hematological and histological examination. We postulate that the hypo-echogenicity may be due to liver congestion secondary to hemodynamic disturbances seen in T21 fetuses. All three cases had negative first trimester Down syndrome screening and one case was detected solely because of the isolated finding of HL. HL per se may be associated with T21 and more positive cases are required to support this association.
    Matched MeSH terms: Hepatomegaly/congenital
  17. Ho JPY, Merican AM, Ayob KA, Sulaiman SH, Hashim MS
    J Orthop Surg (Hong Kong), 2021 2 27;29(1):2309499021992618.
    PMID: 33632009 DOI: 10.1177/2309499021992618
    BACKGROUND: There is a common perception among surgeons that Asian tibiae are significantly more varus compared to non-Asians, contributed both by an acute medial tibial proximal angle (MPTA) and diaphyseal bowing. Insight into the normative morphology of the tibia allows generation of knowledge towards disease processes and subsequently planning for corrective surgeries.

    METHODS: Computed tomography (CT) scans of 100 normal adult knees, aged 18 years and above, were analysed using a 3-dimensional (3D) analysis software. All tibiae were first aligned to a standard frame of reference and then rotationally aligned to the tibial centroid axis (TCAx) and the transmalleolar axis (tmAx). MPTA was measured from best-fit planes on the surface of the proximal tibia for each rotational alignment. Diaphyseal bowing was assessed by dividing the shaft to three equal portions and establishing the angle between the proximal and distal segments.

    RESULTS: The mean MPTA was 87.0° ± 2.2° (mean ± SD) when rotationally aligned to TCAx and 91.6° ± 2.7° when aligned to tmAx. The mean diaphyseal bowing was 0.1° ± 1.9° varus when rotationally aligned to TCAx and 0.3° ± 1.6° valgus when aligned to tmAx. The mean difference when the MPTA was measured with two different rotational alignments (TCAx and tmAx) was 4.6° ± 2.3°. No statistically significant differences were observed between males and females. Post hoc tests revealed statistically significant difference in MPTA between different ethnic sub-groups.

    CONCLUSION: The morphology of the proximal tibiae in the disease-free Asian knee is inherently varus but not more so than other reported populations. The varus profile is contributed by the MPTA, with negligible diaphyseal bowing. These implications are relevant to surgical planning and prosthesis design.

    Matched MeSH terms: Osteochondrosis/congenital*
  18. Misra S, Gupta A, Saran RK
    Malays J Pathol, 2020 Dec;42(3):487-490.
    PMID: 33361734
    Report of a 3-month old girl child who died due to multi-systemic infection of cytomegalovirus (CMV) involving the lungs, liver and kidneys along with pneumocystis jiroveci pneumonia (PJP). The mother of the child tested positive for CMV IgG and HIV with a very low CD4 count (160/ μl). Co-infection of cytomegalovirus and pneumocystis jiroveci always occurs in the setting of immunocompromise. Congenital CMV infection is transmitted through the placenta, especially during the first trimester and causes severe multi-systemic disease whereas perinatal infection is acquired during childbirth/ breastfeeding where the babies have maternal protective antibodies leading to much milder or asymptomatic infection. PJP is more common in infancy and presents as hypoxic pneumonia. CMV causes cyto-nucleomegaly and classic "owl's eye" inclusions on histology while PJP presents with characteristic fluffy "cotton ball" alveolar exudates.
    Matched MeSH terms: Cytomegalovirus Infections/congenital*
  19. 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
  20. Siti Aishah Sulaiman, Nor Azian Abdul Murad, Chow, Yock Ping, Zam Zureena Mohd Rani, Salwati Shuib, Dayang Anita A. Aziz, et al.
    MyJurnal
    VACTERL association is a rare genetic disorder involving at least three of the following congenital
    malformations: vertebral defects (V), anal atresia (A), cardiac defects (C), trachea-oesophageal fistula with
    or without oesophageal atresia (TE), renal anomalies (R) and limb abnormalities (L). Until now, the
    aetiology of VACTERL association is unknown, particularly at the molecular level. Here, we performed
    whole exome sequencing (WES) of an infant with VACTERL association. The patient was delivered
    prematurely at 30 weeks and had 4/6 of the VACTERL malformations. Trio-WES analysis was performed
    using Torrent Suite and ANNOVAR. Polymorphisms with an allele frequency of >0.01 were excluded, and
    the remaining variants were filtered based on de novo mutations, autosomal recessive, X-linked and di-genic
    inheritance traits. In this patient, no homozygous, compound heterozygous or X-linked mutations was
    associated with VACTERL. However, we identified two heterozygous mutations; KIF27
    (ENST00000297814: c.3004A> C:p.N1002H) and GNAS (ENST00000371098: c.205C>A:p.H69N) genes that
    were inherited from her father and mother respectively. A de novo, IFT140 gene mutation
    (ENST00000426508: c.683C>G:p.S228C) was also identified in this patient. The VACTERL phenotype in
    this patient may due to heterozygous mutations affecting KIF27 and GNAS genes, inherited via autosomal
    recessive trait. In addition, the IFT140 gene mutation may also be involved. These genes are known to be
    directly or non-directly involved in the sonic hedgehog signalling that is known to be implicated in
    VACTERL. This is the first report of these genetic mutations in association with VACTERL.
    Matched MeSH terms: Heart Defects, Congenital; Limb Deformities, Congenital
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