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1.
Ophthalmic Res ; 66(1): 854-861, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36917970

RESUMO

INTRODUCTION: The aim of this study was to assess the effect of phacoemulsification and endo-cyclophotocoagulation (phaco-ECP) on intraocular pressure (IOP) fluctuation as assessed by the water drinking test (WDT) in primary open angle glaucoma (POAG). METHODS: This was a prospective observational study carried out at a tertiary referral centre. POAG patients on topical antiglaucoma medications and planned for phaco-ECP were recruited. WDT was performed before surgery and 6 weeks postoperatively by drinking 10 mL/kg of water in 5 min followed by serial IOP by Goldmann applanation tonometry measurements at 15, 30, 45, and 60 min. Mean IOP, IOP fluctuation (difference between highest and lowest IOP), IOP reduction, and factors affecting IOP fluctuation were analysed. RESULTS: Twenty eyes from 17 patients were included. Baseline IOP was similar before (14.7 ± 2.7 mm Hg) and after (14.8 ± 3.4 mm Hg, p = 0.90) surgery. There was no difference in mean IOP (17.6 ± 3.4 mm Hg vs. 19.3 ± 4.7 mm Hg pre- and postoperative, respectively, p = 0.26) or peak IOP (19.37 ± 3.74 mm Hg vs. 21.23 ± 5.29 mm Hg, p = 0.25), albeit a significant reduction in IOP-lowering medications (2.2 ± 1.15 vs. 0.35 ± 0.93, p < 0.001) postoperatively. IOP fluctuation was significantly greater (6.4 ± 3.2 mm Hg vs. 4.6 ± 2.1 mm Hg, p = 0.015) with more eyes having significant IOP fluctuation of ≥6 mm Hg (11 eyes [55%] vs. 4 eyes [20%], p < 0.001) postoperatively. Factors that were significantly associated with increased postoperative IOP fluctuations were higher preoperative IOP fluctuation (ß = 0.69, 95% CI 0.379-1.582, p = 0.004) and more number of postoperative antiglaucoma medications (ß = 0.627, 95% CI 0.614-3.322, p = 0.008). CONCLUSION: Reducing aqueous production with phaco-ECP does not eliminate IOP fluctuation in POAG patients. The increase in postoperative IOP fluctuation suggests increased outflow resistance after phaco-ECP.


Assuntos
Glaucoma de Ângulo Aberto , Glaucoma , Facoemulsificação , Humanos , Pressão Intraocular , Glaucoma de Ângulo Aberto/cirurgia , Glaucoma de Ângulo Aberto/tratamento farmacológico , Agentes Antiglaucoma , Tonometria Ocular , Glaucoma/cirurgia , Água
2.
BMC Pulm Med ; 22(1): 199, 2022 May 17.
Artigo em Inglês | MEDLINE | ID: mdl-35581627

RESUMO

BACKGROUND: Current management of poorly draining complex effusions favours less invasive image-guided placement of smaller tubes and adjunctive intrapleural fibrinolysis therapy (IPFT). In MIST-2 trial, intrapleural 10 mg alteplase (t-PA) with 5 mg of pulmozyme (DNase) twice daily for 72 h were used. We aimed to assess the effectiveness and safety of a modified regimen 16 mg t-PA with 5 mg of DNase administered over 24 h in the management of complex pleural infection. METHODS: This was a single centre, prospective study involving patients with poorly drained pleural infection. Primary outcome was the change of pleural opacity on chest radiograph at day 7 compared to baseline. Secondary outcomes include volume of fluid drained, inflammatory markers improvement, surgical referral, length of hospitalisation, and adverse events. RESULTS: Thirty patients were recruited. Majority, 27 (90%) patients were successfully treated. Improvement of pleural opacity on chest radiograph was observed from 36.9% [Interquartile range (IQR 21.8-54.9%)] to 18.1% (IQR 8.8-32.7%) of hemithorax (P < 0.05). T-PA/DNase increased fluid drainage from median of 45 mls (IQR 0-100) 24 h prior to intrapleural treatment to 1442 mls (IQR 905-2360) after 72 h; (P < 0.05) and reduction of C-reactive protein (P < 0.05). Pain requiring escalation of analgesia affected 20% patients and 9.9% experienced major adverse events. None required surgical intervention. CONCLUSION: This study suggests that a modified regimen 16 mg t-PA with 5 mg DNase can be safe and effective for patients with poorly drained complex pleural infection. Trial registration The study was registered retrospectively on 07/06/2021 with ClinicalTrials number NCT04915586 ( https://clinicaltrials.gov/ct2/show/NCT04915586 ).


Assuntos
Empiema Pleural , Doenças Pleurais , Derrame Pleural , Desoxirribonuclease I , Desoxirribonucleases/efeitos adversos , Desoxirribonucleases/uso terapêutico , Empiema Pleural/tratamento farmacológico , Empiema Pleural/cirurgia , Fibrinolíticos/efeitos adversos , Fibrinolíticos/uso terapêutico , Hospitais de Ensino , Humanos , Derrame Pleural/tratamento farmacológico , Estudos Prospectivos , Proteínas Recombinantes , Estudos Retrospectivos , Ativador de Plasminogênio Tecidual/efeitos adversos , Ativador de Plasminogênio Tecidual/uso terapêutico
3.
Transl Vis Sci Technol ; 11(3): 8, 2022 03 02.
Artigo em Inglês | MEDLINE | ID: mdl-35258558

RESUMO

Purpose: To evaluate and compare biometric and optical coherence tomography parameters of ocular structures in preterm children without retinopathy of prematurity with term children. Methods: A cross-sectional, comparative study was carried out from 2018 to 2019. In this study, 124 eyes of 62 preterm children were compared with 132 eyes of 66 term children aged between 7 and 9 years. Preterm children were born at 28 to 32 weeks with a birth weight of less than 2 kg with no ocular abnormalities, and term children were delivered at 37 or greater weeks and had a birth weight of 2 kg or more. All children had standardized eye examinations, and ocular measurements using the anterior and posterior segment optical coherence tomography and laser interferometry. Results: Significant differences were found between the term and preterm children for horizontal corneal diameter: median, 12.2 mm (interquartile range [IQR], 0.4) versus median, 12.1 mm (IQR, 0.6; P < 0.005); axial length median, 23.03 mm (IQR, 1.10 mm) versus median, 22.88 mm (IQR, 1.35 mm; P = 0.017); global retinal nerve fiber layer thickness: mean ± standard deviation, 106.54 ± 10.23 µm versus mean ± standard deviation, 103.65 ± 10.178 µm (P = 0.024); temporal retinal nerve fiber layer thickness: median, 76 µm (IQR, 16 µm) vs median, 74 µm (IQR, 14 µm; P = 0.012); and the angle opening distance at 750 µm nasal: mean ± standard deviation, 0.815 ± 0.23 mm vs mean ± standard deviation, 0.749 ± 0.21 mm (P = 0.016). No significant differences were found for other anterior segment and angle parameters. Conclusions: Preterm children with no retinopathy of prematurity have smaller eyes and thinner retinal nerve fiber layers than their term counterparts. The long-term effects of interrupted ocular growth in preterm children should be further studied into adulthood. Translational Relevance: Preterm children maybe more predisposed to certain eye conditions because they have smaller eyes, and thus should be further monitored clinically.


Assuntos
Retinopatia da Prematuridade , Tomografia de Coerência Óptica , Adulto , Biometria , Peso ao Nascer , Criança , Estudos Transversais , Humanos , Recém-Nascido , Retinopatia da Prematuridade/diagnóstico por imagem , Tomografia de Coerência Óptica/métodos
4.
Front Public Health ; 8: 577940, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33282811

RESUMO

Background: Stroke is highly prevalent globally and is an important cause of cognitive impairment and dementia. Aims: We determined the frequency of post-stroke cognitive impairment (PSCI) at 1, 3, and 6 months among patients with first clinical ischemic stroke compared to risk and age-matched controls. Methods: This study involved 32 cases and 32 controls, and was conducted over 6 months. Cases were inpatients aged >60 with first clinical ischemic stroke. Controls were age-matched subjects without prior stroke. Montreal Cognitive Assessment (MoCA) was performed in all patients at 1, 3, and 6 month post stroke. A MoCA score of <26 was used for mild PSCI and <22 for moderate PSCI (post stroke dementia). Results: Post-stroke dementia was detected in 12 patients (37.5%) at 1st month, in 13 (40.6%) at 3rd month and 15 (48.4%) at 6th months. Mild PSCI was present in 7 patients (21.6%) at 1 month, 16 patients (50%) at 3 months, and 15 patients (48%) at 6 months. The odds ratio (OR) for post-stroke dementia was 3.2 (95%CI 0.98-10.68; p = 0.05) at 1 month; 3.69(95% CI 1.13-12.11; p = 0.031) at 3 months, and 4.88 (95% CI 1.49-15.99; p = 0.009) at 6 months. Years of education was an independent predictor for dementia (OR 0.60; p = 0.046). The OR for post-stroke dementia at 6th month was 7.23 with education level adjusted (95%CI 1.46-35.86, p = 0.015). Conclusion: The frequency of PSCI was high as early as 1 month after stroke. Stroke alone conferred a 7.2 times risk for post-stroke dementia compared to controls.


Assuntos
Isquemia Encefálica , Transtornos Cognitivos , Disfunção Cognitiva , AVC Isquêmico , Acidente Vascular Cerebral , Idoso , Isquemia Encefálica/complicações , Estudos de Casos e Controles , Disfunção Cognitiva/diagnóstico , Humanos , Acidente Vascular Cerebral/complicações
5.
J Clin Neurosci ; 73: 31-36, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32094071

RESUMO

The objective of this study is to determine prevalence and factors leading to verbal learning and memory dysfunction among patients with epilepsy. A total of 211 subjects were recruited. Their verbal memory was assessed by Rey's Auditory Verbal Learning Test (RAVLT). This test was further subdivided into four major spheres for analysis, namely the verbal learning, interference list, immediate memory and delayed memory. All data collected were analyzed using Statistical Package for Social Sciences. Among the 211 patients, 55% (n = 116) had focal seizures and the remaining 45% (n = 95) had generalized seizures. Prevalence of verbal learning and memory impairment was high at 39.97% overall, and found most commonly in patients with focal impaired awareness seizures. Verbal learning and immediate memory dysfunction were significantly lower in focal impaired awareness group compared to others. Age more than 50 years, exposure to three or more antiepileptic drugs and use of carbamazepine more than 1000 mg a day were the predictors in poor verbal memory outcome. No statistical difference was observed in the mean RAVLT scores among the gender and hand dominance groups. Between patients with and without electroencephalogram changes as well as brain magnetic resonance imaging changes, the mean RAVLT scores showed no statistically significant difference. Verbal learning and memory impairment is prevalent among the epilepsy patients. The consequences of the memory impairment can be as debilitating as the seizure control. RAVLT is a reliable and practical test in the clinical setting.


Assuntos
Epilepsia/epidemiologia , Transtornos da Memória/epidemiologia , Testes de Memória e Aprendizagem , Aprendizagem Verbal/fisiologia , Adolescente , Adulto , Idoso , Anticonvulsivantes/efeitos adversos , Epilepsia/tratamento farmacológico , Epilepsia/psicologia , Feminino , Humanos , Malásia/epidemiologia , Masculino , Transtornos da Memória/induzido quimicamente , Transtornos da Memória/psicologia , Memória de Curto Prazo/efeitos dos fármacos , Memória de Curto Prazo/fisiologia , Pessoa de Meia-Idade , Testes Neuropsicológicos , Prevalência , Aprendizagem Verbal/efeitos dos fármacos , Adulto Jovem
6.
Front Pediatr ; 8: 608242, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33537265

RESUMO

Introduction: Children with autism spectrum disorder (ASD) have a variety of co-morbid medical problems, including sleep disturbances. Prevalence of sleep disorders has been reported to be higher in this group as compared to the general population. Identifying sleep problems in children with ASD may help increase awareness and improve the overall quality of care for them. The aim of this study was to determine the prevalence of sleep problems and associated factors in a group of Malaysian children aged 6-16 years, with ASD. Method: This is a cross-sectional study at the Child Development Centre of UKM Medical Centre (UKM MC) on ASD children aged 6-16 years. Demographic data was obtained and the Sleep Disturbances Scale for Children (SDSC) questionnaire was completed by the main caregiver. Logistic regression analysis was used to determine factors related to higher total SDSC scores. Results: A total of 128 patients were recruited (111 boys) with a median age of 8 years 3 months (IQR: 2 years 10 months). Forty-seven (36.7%) of them obtained total SDSC scores in the pathological range with 19 (14.8%) scoring high for overall disturbances and 28 (21.9%) for at least one subtype of sleep disorders: 25 (19.5%) DIMS, 18 (14.1%) SBD, 10 (7.8%) DOES, 5 (3.9%) DOA, 6 (4.7%) SWTD, and 3 (2.3%) SHY. More than half of the children (57.8%) were reported to have sufficient sleep duration of 8-11 h, but longer sleep latency of at least 15 min (82.8%). Half of the ASD children also had co-morbidities in which one-third (34.4%) had attention-deficit hyperactivity disorder (ADHD). Using logistic regression analysis, four factors were significantly associated with higher total SDSC scores; female gender (p = 0.016), older age group (11-16 years old) (p = 0.039), shorter sleep length (p = 0.043), and longer sleep latency (p < 0.001). Conclusion: The prevalence of sleep disturbances is high among Malaysian children with ASD, especially DIMS. Female gender, older age group, shorter sleep length, and longer sleep latency were found to be associated with the sleep disturbances. Evaluation of sleep problems should form part of the comprehensive care of children with ASD.

7.
ScientificWorldJournal ; 2018: 2979206, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30111990

RESUMO

Cardiovascular disease (CVD) leads to high morbidity and mortality rate worldwide. Therefore, it is important to determine the risk of CVD across the sociodemographic factors to strategize preventive measures. The current study consisted of 53,122 adults between the ages of 35 and 65 years from The Malaysian Cohort project during recruitment phase from year 2006 to year 2012. Sociodemographic profile and physical activity level were assessed via self-reported questionnaire, whereas relevant CVD-related biomarkers and biophysical variables were measured to determine the Framingham Risk Score (FRS). The main outcome was the 10-year risk of CVD via FRS calculated based on lipid profile and body mass index (BMI) associated formulae. The BMI-based formula yielded a higher estimation of 10-year CVD risk than the lipid profile-based formula in the study for both males (median = 13.2% and 12.7%, respectively) and females (median = 4.3% and 4.2%, respectively). The subgroup with the highest risk for 10-year CVD events (based on both FRS formulae) was the Malay males who have lower education level and low physical activity level. Future strategies for the reduction of CVD risk should focus on screening via BMI-based FRS in this at-risk subpopulation to increase the cost-effectiveness of the prevention initiatives.


Assuntos
Doenças Cardiovasculares/epidemiologia , Lipídeos/análise , Fatores Socioeconômicos , Adulto , Idoso , Índice de Massa Corporal , Humanos , Malásia/epidemiologia , Pessoa de Meia-Idade , Medição de Risco/métodos , Fatores de Risco
8.
Clin Chim Acta ; 484: 141-147, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29807018

RESUMO

BACKGROUND: Osteogenesis imperfecta (OI) is a rare genetic bone disease characterized by bone fragility and low bone mass. OI was mainly caused by genetic mutations in collagen genes, COL1A1 and COL1A2. Nevertheless, new genes have been identified to be causally linked to OI. The clinical features between each OI groups share great similarities and it is sometimes difficult for clinicians to diagnose the disease accurately. Here, we identify the genetic mutations of OI patients from Malaysia and correlate the genetic mutations with the clinical features. METHOD: Targeted sequencing of fourteen genes panel was performed to identify the mutations in 29 OI patients with type I, III, IV and V disease. The mutations were determined using Ion Torrent Suite software version 5 and variant annotation was conducted using ANNOVAR. The identified mutations were confirmed using Sanger sequencing and in silico analysis was performed to evaluate the effects of the candidate mutations at protein level. RESULTS: Majority of patients had mutations in collagen genes, 48% (n = 14) in COL1A1 and 14% (n = 4) in COL1A2. Type I OI was caused by quantitative mutations in COL1A1 whereas most of type III and IV were due to qualitative mutations in both of the collagen genes. Those with quantitative mutations had milder clinical severity compared to qualitative mutations in terms of dentinogenesis imperfecta (DI), bone deformity and the ability to walk with aid. Furthermore, a few patients (28%, n = 8) had mutations in IFITM5, BMP1, P3H1 and SERPINF1. CONCLUSION: Majority of our OI patients have mutations in collagen genes, similar to other OI populations worldwide. Genotype-phenotype analysis revealed that qualitative mutations had more severe clinical characteristics compared to quantitative mutations. It is crucial to identify the causative mutations and the clinical severity of OI patients may be predicted based on the types of mutations.


Assuntos
Osteogênese Imperfeita/genética , Feminino , Variação Genética/genética , Genótipo , Humanos , Malásia , Masculino , Osteogênese Imperfeita/diagnóstico , Fenótipo
9.
J Obstet Gynaecol ; 38(4): 461-465, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29390907

RESUMO

This study was to assess the relationship between late pregnancy haemoglobin A1C (HbA1C) at 29-30 weeks of gestation and adverse pregnancy outcomes (APOs) in 272 pregnant women with pre-existing diabetes. HbA1C ≥6.1% was associated with significantly increased risk of preterm delivery, Caesarean section, large for gestational age (LGA), neonatal respiratory distress, neonatal hypoglycaemia, and composite adverse neonatal outcome (p < .05). The risk of pre-eclampsia increased significantly at the lower HbA1C cut-off of > 5.6% (p = .039). Reduction of HbA1C cut-off from 6.1% to 5.6% improved the sensitivity but reduced the specificity for prediction of APOs. Overall, the receiver operating characteristic (ROC) curves demonstrated the moderate predictive value of late pregnancy HbA1C for APOs. In conclusion, elevated late pregnancy HbA1C levels at 29-30 gestational weeks had a negative impact on APOs in pregnant women with pre-existing diabetes. However, HbA1C cut-off levels of neither ≥6.1% nor >5.6% were ideal for predicting APOs. Impact statement What is already known on this subject: Poorly controlled diabetes is associated with adverse pregnancy outcomes (APOs). Periconceptual haemoglobin A1C (HbA1C) correlates well with the risk of foetal anomaly but is not predictive of APOs at time of delivery. New evidence suggested that late pregnancy HbA1C is predictive of APOs but the definitions of a late pregnancy gestational week and target HbA1C cutpoint remain in doubt. What the results of this study add: This study investigated the relationship between late pregnancy HbA1C levels at 29-30 weeks of gestation and the APOs among pregnant women with pre-existing diabetes. Late pregnancy HbA1C ≥ 6.1% correlated with the risk of APOs but the increased risk of pre-eclampsia only became significant at the lower cut-off of >5.6%. Reducing HbA1C cut-off from 6.1% to 5.6% improved the sensitivity but reduced the specificity for prediction of APOs. Overall, late pregnancy HbA1C had a moderate predictive value for APOs. What the implications are of these findings for clinical practice and/or further research: HbA1C cut-off levels of neither ≥6.1% nor >5.6% were ideal in predicting APOs among pregnant women with pre-existing diabetes. As HbA1C levels tend to drop in pregnancy, caution should be taken when interpreting HbA1C in pregnancy. More multi-centred studies are required to explore the respective glycaemic target for each APO and to determine the ideal timing for late pregnancy HbA1C measurement.


Assuntos
Hemoglobinas Glicadas/metabolismo , Resultado da Gravidez/epidemiologia , Terceiro Trimestre da Gravidez/sangue , Gravidez em Diabéticas/sangue , Adulto , Feminino , Humanos , Malásia/epidemiologia , Gravidez , Gravidez em Diabéticas/epidemiologia , Estudos Retrospectivos
10.
Horm Res Paediatr ; 88(5): 324-330, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28965114

RESUMO

BACKGROUND/AIMS: Disorders of sex development (DSD) are a heterogeneous group of rare conditions. Evidence-based treatment is challenged by a lack of clinical longitudinal outcome studies. We sought to investigate the quality of life of children with DSD other than congenital adrenal hyperplasia. METHODS: The participants (aged 6-18 years) were 23 patients raised as males and 7 patients raised as females. Control data were obtained from representatives of the patients' siblings matched for age and gender. The Pediatric Quality of Life InventoryTM Version 4.0 (PedsQL) Generic Core Scales were used as the study tool. RESULTS: In comparison with the reference data, the patient group had significantly lower overall PedsQL (p < 0.01) and school functioning (p < 0.01) scores. Also, the total PedsQL score was significantly lower in patients with DSD who were of female social sex as compared to the controls who were females. Family income, surgical procedures, degree of virilization, and mode of puberty did not influence the PedsQL scores. CONCLUSION: This study revealed a poorer quality of life for patients with DSD as compared to the age-matched control group. This highlights the need for a skilled multidisciplinary team to manage this group of patients.


Assuntos
Transtornos do Desenvolvimento Sexual/psicologia , Qualidade de Vida/psicologia , Adolescente , Criança , Feminino , Nível de Saúde , Humanos , Masculino , Maturidade Sexual , Inquéritos e Questionários
11.
Int J Endocrinol ; 2017: 5987490, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28717365

RESUMO

The aim of this study is to determine the behavioural problems of children with 46XY disorders of sex development (DSD) with genital ambiguity and to identify the risk factors that may influence behaviour. The 27 participants (aged 6-18 years) consisted of 21 patients raised as boys and 6 patients raised as girls. Control data were obtained from a representative sibling of each patient who was matched for age and gender. The study tool used was the Child Behaviour Checklist (CBCL), which is a parent-administered questionnaire. The analysis of the behavioural scores revealed that the patient group had poorer scores in the total, externalizing, and internalizing realms. This group also had poorer scores in the anxious-depressed, social, and rule-breaking realms as compared to the control group. In addition, the XY-F group had higher scores (more pathological) than the XY-M group, although the difference in the scores was not statistically significant. A comparison of the prevalence of patients with scores in the clinical range with that of the control group was not statistically significant. These findings support the current recommendations that psychological counselling should be an integral part of the professional support offered to patients with DSD.

12.
Pediatr Int ; 59(7): 776-780, 2017 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-28370991

RESUMO

BACKGROUND: Occlusive body wrap using polyethylene plastic applied immediately after birth had been shown to reduce hypothermia among preterm infants. Various adjunct methods have been studied in an attempt to further reduce the incidence of hypothermia. This study was conducted to determine whether polyethylene cap is more effective than cotton cap as an adjunct to polyethylene occlusive body wrap in reducing hypothermia in preterm infants. METHODS: The subjects consisted of preterm infants 24-34 weeks' gestation born at Universiti Kebangsaan Malaysia Medical Centre. Infants were randomly assigned to NeoCap or control groups. Infants in both groups were wrapped in polyethylene sheets from the neck downwards immediately after birth without prior drying. Infants in the control group had their heads dried and subsequently covered with cotton caps while infants in the NeoCap group had polyethylene caps put on without drying. Axillary temperature was measured on admission to the neonatal intensive care unit (NICU), and after having been stabilized in the incubator. RESULTS: Among the 80 infants recruited, admission hypothermia (axillary temperature <36.5°C) was present in 37 (92.5%) and in 40 (100%) in the NeoCap and control groups, respectively. There was no significant difference in mean temperature on NICU admission between the two groups (35.3 vs 35.1°C, P = 0.36). Mean post-stabilization temperature, however, was significantly higher in the NeoCap group (36.0 vs 35.5°C, P = 0.01). CONCLUSION: Combined use of polyethylene body wrap and polyethylene cap was associated with a significantly higher mean post-stabilization temperature compared with polyethylene body wrap and cotton cap.


Assuntos
Bandagens , Vestuário , Fibra de Algodão , Hipotermia/prevenção & controle , Doenças do Prematuro/prevenção & controle , Terapia Intensiva Neonatal/métodos , Polietileno , Feminino , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Masculino , Resultado do Tratamento
13.
Int J Epidemiol ; 44(2): 423-31, 2015 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24729425

RESUMO

The Malaysian Cohort study was initiated in 2005 by the Malaysian government. The top-down approach to this population-based cohort study ensured the allocation of sufficient funding for the project which aimed to recruit 100,000 individuals aged 35-70 years. Participants were recruited from rural and urban areas as well as from various socioeconomic groups. The main objectives of the study were to identify risk factors, to study gene-environment interaction and to discover biomarkers for the early detection of cancers and other diseases. At recruitment, a questionnaire-based interview was conducted, biophysical measurements were performed and biospecimens were collected, processed and stored. Baseline investigations included fasting blood sugar, fasting lipid profile, renal profile and full blood count. From April 2006 to the end of September 2012 we recruited a total of 106,527 participants. The baseline prevalence data showed 16.6% participants with diabetes, 46.5% with hypertension, 44.9% with hypercholesterolaemia and 17.7% with obesity. The follow-up phase commenced in June 2013. This is the most comprehensive and biggest cohort study in Malaysia, and has become a valuable resource for epidemiological and biological research. For information on collaboration and also data access, investigators can contact the project leader at (rahmanj@ppukm.ukm.edu.my).


Assuntos
Doença Crônica/etnologia , Adulto , Distribuição por Idade , Idoso , Causas de Morte , Doença Crônica/mortalidade , Diabetes Mellitus/etnologia , Diabetes Mellitus/mortalidade , Feminino , Interação Gene-Ambiente , Humanos , Hipercolesterolemia/etnologia , Hipercolesterolemia/mortalidade , Hipertensão/etnologia , Hipertensão/mortalidade , Malásia/epidemiologia , Malásia/etnologia , Masculino , Pessoa de Meia-Idade , Neoplasias/etnologia , Neoplasias/mortalidade , Obesidade/etnologia , Obesidade/mortalidade , Prevalência , Estudos Prospectivos , Características de Residência/estatística & dados numéricos , Saúde da População Rural/estatística & dados numéricos , Distribuição por Sexo , Fatores Socioeconômicos , Saúde da População Urbana/estatística & dados numéricos
14.
J Hum Genet ; 59(11): 593-7, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25231368

RESUMO

Glycine encephalopathy (GCE) or nonketotic hyperglycinemia is an inborn error of glycine metabolism, inherited in an autosomal recessive manner due to a defect in any one of the four enzymes aminomethyltransferase (AMT), glycine decarboxylase (GLDC), glycine cleavage system protein-H (GCSH) and dehydrolipoamide dehydrogenase in the glycine cleavage system. This defect leads to glycine accumulation in body tissues, including the brain, and causes various neurological symptoms such as encephalopathy, hypotonia, apnea, intractable seizures and possible death. We screened 14 patients from 13 families with clinical and biochemical features suggestive of GCE for mutation in AMT, GLDC and GCSH genes by direct sequencing and genomic rearrangement of GLDC gene using a multiplex ligation-dependant probe amplification. We identified mutations in all 14 patients. Seven patients (50%) have biallelic mutations in GLDC gene, six patients (43%) have biallelic mutations in AMT gene and one patient (7%) has mutation identified in only one allele in GLDC gene. Majority of the mutations in GLDC and AMT were missense mutations and family specific. Interestingly, two mutations p.Arg265His in AMT gene and p.His651Arg in GLDC gene occurred in the Penan sub-population. No mutation was found in GCSH gene. We concluded that mutations in both GLDC and AMT genes are the main cause of GCE in Malaysian population.


Assuntos
Aminometiltransferase/genética , Predisposição Genética para Doença/genética , Proteína H do Complexo Glicina Descarboxilase/genética , Glicina Desidrogenase (Descarboxilante)/genética , Hiperglicinemia não Cetótica/genética , Mutação , Sequência de Bases , Análise Mutacional de DNA/métodos , Saúde da Família , Feminino , Genótipo , Humanos , Recém-Nascido , Masculino
15.
Int J Endocrinol ; 2014: 483718, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24799898

RESUMO

The aim of this study was to determine the behavioral outcome in children with CAH and to identify the risk factors that may influence it. Participants (aged 6-18 years) included 29 girls and 20 boys with CAH and unaffected siblings (25 girls and 17 boys). Psychological adjustment was assessed with parent reports on the Child Behavior Checklist (CBCL). Information about disease characteristics was obtained from medical records. Our study reveals that there was higher incidence of parent-reported problem of anxious/depressed and withdrawn/depressed behaviours, somatic complaints, social, thought, and attention problems, and rule-breaking, aggressive, internalizing, and externalizing behaviour among children with CAH compared to controls. The prevalence of internalizing behaviour problems was higher in CAH boys compared with that of controls. Psychosocial adjustment of girls with CAH was found to be similar to unaffected female controls and was within the normal population range. Family income may be associated with behavioral outcome. Glucocorticoid dose may reflect disease severity which may be associated with behavioral outcome. We conclude that internalizing behavioral problem was prevalent among boys with CAH reflecting maladaptive adjustment in coping with chronic illness. This highlighted the importance of psychological and social support for the patients and their families.

16.
BMC Res Notes ; 4: 216, 2011 Jun 29.
Artigo em Inglês | MEDLINE | ID: mdl-21714858

RESUMO

BACKGROUND: Dengue infection has been an important and serious public health concern in Malaysia ever since its first reported case here in 1902. Nevertheless, to our knowledge, no nationwide investigation has been carried out to determine the actual magnitude of dengue endemicity in the Malaysian population. In this study, we describe a cross sectional seroepidemiology study of dengue IgG seroprevalence in the Malaysian adult population. FINDINGS: From 1000 subjects (35-74 years old), 91.6% subjects were found to be dengue seropositive. Age is found to be a significant risk factor associated with dengue seroposivity, where the seroprevalence increased with every 10 year increase in age. Nevertheless, gender and ethnicity did not have an effect. Interestingly, there were similar seroprevalence rates between urban and rural samples, showing that dengue is presently not confined to urban areas in Malaysia. CONCLUSIONS: High dengue IgG seropositivity found in the population is an indication that dengue might be endemic in Malaysia for a long time into the future. Public awareness, proper vector control and vigilant surveillance are critical to keep the infection rates low and to prevent outbreaks.

18.
J Pediatr Hematol Oncol ; 32(5): 407-10, 2010 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-20505534

RESUMO

Vincristine-induced vocal cord paralysis is a rare but serious complication. We report 2 patients with acute lymphoblastic leukemia who developed progressive stridor during induction chemotherapy. There were no clinical features of peripheral or autonomic neuropathy. Flexible laryngoscopy confirmed the diagnosis of bilateral vocal cord palsy; interestingly, the nerve conduction test revealed axonal motor neuropathy involving the median and common peroneal nerves in both patients. The first patient required prolonged ventilatory support necessitating unilateral cordectomy before extubation, whereas the second only required supplemental oxygen therapy. There was resolution of stridor in the first patient after cordectomy and gradual clinical improvement in the second. These cases illustrate that a high index of suspicion of vincristine-induced vocal cord palsy with prompt otolaryngology consultation for laryngoscopy is required in the diagnostic evaluation of a patient who has received vincristine.


Assuntos
Antineoplásicos Fitogênicos/efeitos adversos , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , Vincristina/efeitos adversos , Paralisia das Pregas Vocais/induzido quimicamente , Pré-Escolar , Feminino , Humanos , Laringoscopia , Masculino , Paralisia das Pregas Vocais/tratamento farmacológico
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