Displaying publications 121 - 140 of 336 in total

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  1. 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
  2. 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*
  3. Tan DS, Mak JW
    PMID: 4023821
    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*
  4. Pai NG, Prabhu S, Prabhakar P, Kumar V
    BMJ Case Rep, 2020 Aug 26;13(8).
    PMID: 32847882 DOI: 10.1136/bcr-2020-235526
    Incomplete intestinal fixation or malrotation of gut with midgut volvulus is one of the important causes of bilious vomiting in neonates. The incidence of malrotation of gut in population is 4% and that of duplication cyst is 1:4500. Patients with malrotation are prone to develop midgut volvulus due to their narrow mesenteric base demanding urgent surgical intervention. Common associated anomalies are intrinsic duodenal obstruction, internal hernias, caecal volvulus, anorectal malformations and Hirschsprung's disease. The present case refers to a 4-day-old neonate who presented with malrotation of gut with reverse volvulus and an associated gastrointestinal duplication cyst, which is a rare association with only few reported case reports. After imaging with ultrasound and contrast radiograph, the baby underwent prompt surgical intervention in the form of Ladd's procedure with resection and anastomosis of jejunal duplication cyst.
    Matched MeSH terms: Cysts/congenital; Intestinal Diseases/congenital
  5. Karen Leong SW, Wu LL
    Med J Malaysia, 2019 02;74(1):92-93.
    PMID: 30846672
    Testicular adrenal rest tumours (TART) are aberrant adrenal tissue within the testes (1). Although benign, they can lead to obstruction of the seminiferous tubules and infertility in patients with congenital adrenal hyperplasia (CAH). We report six boys who developed TART, a complication of CAH. Diagnosis was confirmed by ultrasound and testicular vein sampling of elevated 17-hydroxyprogesterone (17-OHP) levels. Glucocorticoids dosages were increased 1½-2 folds to suppress size of the aberrant adrenal tissues. Despite reductions in 17-OHP, the lesions remained unchanged. Three patients had testis-sparing surgery to excise the TART and to preserve normal testicular tissues.
    Matched MeSH terms: Adrenal Hyperplasia, Congenital/complications; Adrenal Hyperplasia, Congenital/diagnosis
  6. Leung AKC, Hon KL, Leong KF
    Hong Kong Med J, 2019 04;25(2):134-141.
    PMID: 30967519 DOI: 10.12809/hkmj187785
    Rubella is generally a mild and self-limited disease in children. During pregnancy, rubella can have potentially devastating effects on the developing fetus. Postnatal rubella is transmitted primarily by inhalation of virus-laden airborne droplets or direct contact with infected nasopharyngeal secretions. In susceptible pregnant women, the virus may cross the placenta and spread through the vascular system of the developing fetus. Postnatally acquired rubella typically begins with fever and lymphadenopathy, followed by an erythematous, maculopapular rash. The rash classically begins on the face, spreads cephalocaudally, becomes generalised within 24 hours, and disappears within 3 days. Maternal rubella, especially during early pregnancy, may lead to miscarriage, intrauterine fetal death, premature labour, intrauterine growth retardation, and congenital rubella syndrome. Cataracts, congenital heart defects, and sensorineural deafness are the classic triad of congenital rubella syndrome and they typically occur if the fetal infection occurs in the first 11 weeks of gestation. Laboratory confirmation of rubella virus infection can be based on a positive serological test for rubella-specific immunoglobulin M antibody; a four-fold or greater increase in rubella-specific immunoglobulin G titres between acute and convalescent sera; or detection of rubella virus RNA by reverse transcriptase-polymerase chain reaction. Treatment is mainly symptomatic. Universal childhood immunisation and vaccination of all susceptible patients with rubella vaccine to decrease circulation of the virus are cornerstones to prevention of rubella and, more importantly, congenital rubella syndrome.
    Matched MeSH terms: Rubella Syndrome, Congenital/epidemiology*; Rubella Syndrome, Congenital/prevention & control*
  7. Sriwahyuni E, Sriwahyuni E, Fuad A, Ahmad RA, Ahmad RA, Rustamaji R, et al.
    Med J Malaysia, 2020 05;75(Suppl 1):41-47.
    PMID: 32483106
    INTRODUCTION: Rubella infection during early pregnancy may cause fatal consequences such as congenital rubella syndrome (CRS). The incidence rate (IR) of CRS confirmed cases in Yogyakarta, Indonesia between July 2008 and June 2013 was high at 0.05 per 1,000 live births. This study aimed to discover the spatiotemporal pattern of rubella and CRS and also identify whether the proximity of rubella cases was associated with the occurrence of CRS cases.

    METHODS: This observational research used a spatiotemporal approach. We obtained CRS and rubella surveillance data from Dr. Sardjito Hospital, Provincial, and District Health Offices in Yogyakarta, Indonesia during January-April 2019. The home addresses of rubella and CRS cases were geocoded using the Global Positioning System. Average of the nearest neighbour and space-time permutation analyses were conducted to discover the spatiotemporal patterns and clusters of rubella and CRS cases.

    RESULTS: The peak of rubella cases occurred in 2017 (IR: 22.3 per 100,000 population). Twelve confirmed cases of CRS were found in the 2016-2018 period (IR: 0.05 per 1,000 live births). The occurrence of CRS in Yogyakarta was detected 6-8 months after the increase and peak of rubella cases. The spatiotemporal analysis showed that rubella cases were mostly clustered, while CRS cases were distributed in a dispersed pattern. Rubella cases were found within a buffer zone of 2.5 km from any CRS case.

    CONCLUSIONS: Rubella cases were spatiotemporally associated with the occurrence of CRS in Yogyakarta. We recommend strengthening the surveillance system of CRS and rubella cases in order to contain any further spreading of the disease.

    Matched MeSH terms: Rubella Syndrome, Congenital/etiology; Rubella Syndrome, Congenital/epidemiology*
  8. 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
  9. Sivanathan J, Thilaganathan B
    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
  10. Mat Bah MN, Sapian MH, Jamil MT, Alias A, Zahari N
    Pediatr Cardiol, 2018 Oct;39(7):1389-1396.
    PMID: 29756159 DOI: 10.1007/s00246-018-1908-6
    Critical congenital heart disease (CCHD) is associated with significant morbidity and mortality. However, data on survival of CCHD and the risk factors associated with its mortality are limited. This study examined CCHD survival and the risk factors for CCHD mortality. Using a retrospective cohort study of infants born with CCHD from 2006 to 2015, survival over 10 years was estimated using Kaplan-Meier analysis, and the risk factors for mortality were analyzed using multivariate Cox proportional hazards regression. A total of 491 CCHD cases were included in the study, with an overall mortality rate of 34.8% (95% confidence interval [CI] 30.6-39.2). The intervention/surgical mortality rate was 9.8% ≤ 30 days and 11.5% > 30 days after surgery, and 17% died before surgery or intervention. The median age at death was 2.7 months [first quartile: 1 month, third quartile: 7.3 months]. The CCHD survival rate was 90.4% (95% CI 89-91.8%) at 1 month, 69.3% (95% CI 67.2-71.4%) at 1 year, 63.4% (95% CI 61.1-65.7%) at 5 years, and 61.4% (95% CI 58.9-63.9%) at 10 years. Weight of
    Matched MeSH terms: Heart Defects, Congenital/diagnosis; Heart Defects, Congenital/mortality*
  11. Patel FB, Newman SA, Norton SA
    Skinmed, 2016 02 01;14(1):53-4.
    PMID: 27072733
    A 20-year-old man of Indo-Malaysian ancestry presented with a complaint of increased facial pigmentation that he first noticed at age 13. He had congenital adrenal hyperplasia (21-hydroxylase deficiency, salt-wasting variant; OMIM 201910), diagnosed during infancy. Glucocorticoid and mineralocorticoid therapy was started at that time, but he had several episodes of salt craving during adolescence. During the past 7 years, the degree of facial pigmentation waxed and waned but never returned to baseline of early adolescence. Progressive skin darkening was also observed in annual family photos, which also showed a vast difference in skin tones between the patient and other members of his immediate family.
    Matched MeSH terms: Adrenal Hyperplasia, Congenital/complications*; Adrenal Hyperplasia, Congenital/drug therapy
  12. Haranal M, Abdul Latiff HB, Sivalingam S
    World J Pediatr Congenit Heart Surg, 2020 01;11(1):130-132.
    PMID: 31835984 DOI: 10.1177/2150135119885889
    Coexistence of asymptomatic balanced double aortic arch with tetralogy of Fallot (TOF) is extremely rare and represents a surgical dilemma in decision-making due to the lack of consensus on the management of this subset of patients. We report a case of asymptomatic balanced double aortic arch coexistent with TOF in a two-year-old girl.
    Matched MeSH terms: Heart Defects, Congenital/diagnosis; Heart Defects, Congenital/surgery
  13. 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
  14. 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*
  15. 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
  16. Sukumaran K
    Br J Ophthalmol, 1991 Mar;75(3):179-80.
    PMID: 2012789
    A case of Norrie's disease in an identical twins is reported. No positive family history was obtained. The couple had no other children. The older of the twins died at the age of 9 months of uncertain cause. To the best of my knowledge this is the first case of Norrie's disease reported in Malaysia. And its occurrence in an identical twins is very rare.
    Matched MeSH terms: Blindness/congenital*; Retinal Detachment/congenital
  17. 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
  18. Zainuddin AA, Grover SR, Soon CH, Ghani NAA, Mahdy ZA, Manaf MRA, et al.
    J Pediatr Adolesc Gynecol, 2020 Oct;33(5):477-483.
    PMID: 32376362 DOI: 10.1016/j.jpag.2020.04.008
    OBJECTIVE: To explore the impact of congenital adrenal hyperplasia (CAH) on body image in Malaysian females with CAH and to understand the perspectives of these young women and their parents toward feminizing genitoplasty (FG).

    DESIGN: Multi-center cross-sectional study.

    SETTING: Two tertiary medical centers in Malaysia.

    PARTICIPANTS: A total of 59 patients with CAH who were raised as females and more than 10 years old, and their parents.

    METHODS: The CAH respondents completed the validated and translated Body Image Disturbance Questionnaires (BIDQ). All CAH respondents and their parents underwent semi-structured interviews to explore their views on FG.

    MAIN OUTCOME MEASURES: Body image disturbance score and perspectives on FG.

    RESULTS: The 59 CAH respondents consisted of 12 children, 29 adolescents, and 18 adults. The majority were of Malay ethnicity (64.4%) with classical CAH (98.3%) and had undergone FG (n = 55, 93.2%). For the BIDQ scores, the median score (interquartile range) for general body image was 1.29 (0.71), range 1.00-3.29, whereas the genital appearance score was 1.07 (0.39), range 1.00-4.29, revealing a greater concern for general body parts over genitalia. With regards to FG, it was perceived as necessary. Infancy and early childhood were perceived as the best timing for first FG by both respondents and parents, most preferring single-stage over 2-stage surgery.

    CONCLUSIONS: General body appearance concerns were greater than for genital appearance, with more impact on the patients' lives. Contrary to much international opinion, feminizing surgery was perceived as necessary and appropriate by CAH respondents and their families, and should be offered in infancy or early childhood. Future qualitative studies are recommended.

    Matched MeSH terms: Adrenal Hyperplasia, Congenital/psychology*; Adrenal Hyperplasia, Congenital/surgery
  19. 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
  20. 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
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