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1.
Med J Malaysia ; 79(1): 47-51, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38287757

RESUMO

INTRODUCTION: Several risk factors found to be associated with postoperative complications and cancer surgery, which carry a significant morbidity risk to cancer patients. Therefore, prehabilitation is necessary to improve the functional capability and nutritional status of a patient prior to surgery, so that the patient can withstand any postoperative activity and associated deterioration. Thus, this study aims to assess the effectiveness of prehabilitation interventions on the functional status of patients with gastric and oesophageal cancer who underwent esophagectomy and gastrectomy. MATERIAL AND METHODS: An interventional study was carried out among oesophageal and gastric cancer patients who had undergone surgery at the National Cancer Institute of Malaysia. The prehabilitation process took a maximum of two weeks, depending on the patient's optimisation before surgery. The prehabilitation is based on functional capacity (ECOG performance status), muscle function (handgrip strength), cardio-respiratory function (peak flow meter) and nutritional status (calorie and protein). Postoperative outcomes are measured based on the length of hospital stay, complications, and Clavien-Dindo Classification. RESULTS: Thirty-one patients were recruited to undergo a prehabilitation intervention prior to gastrectomy (n=21) and esophagectomy (n=10). Demographically, most of the cancer patients were males (67.7%) with an ideal mean of BMI (23.5±6.0). Physically, the majority of them had physical class (ASA grade) Grade 2 (67.7%), ECOG performance status of 1 (61.3%) and SGA grade B (51.6%). The functional capacity and nutritional status showed a significant improvement after one week of prehabilitation interventions: peak expiratory flow meter (p<0.001), handgrip (p<0.001), ECOG performance (p<0.001), walking distance (p<0.001), incentive spirometry (p<0.001), total body calorie (p<0.001) and total body protein (p=0.004). However, those patients who required two weeks of prehabilitation for optimization showed only significant improvement in peak expiratory flow meter (p<0.001), handgrip (p<0.001), and incentive spirometry (p<0.001). Prehabilitation is significantly associated postoperatively with the length of hospital stay (p=0.028), complications (p=0.011) and Clavien-Dindo Classification (p=0.029). CONCLUSION: Prehabilitation interventions significantly increase the functional capacity and nutritional status of cancer patients preoperatively; concurrently reducing hospital stays and complications postoperatively. However, certain cancer patients might require over two weeks of prehabilitation to improve the patient's functional capacity and reduce complications postoperatively.


Assuntos
Asma , Cuidados Pré-Operatórios , Masculino , Humanos , Idoso , Feminino , Apendicectomia , Força da Mão , Malásia , Complicações Pós-Operatórias/prevenção & controle
2.
Int J Obstet Anesth ; 57: 103926, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37866972

RESUMO

BACKGROUND: Current training on managing an obstetric difficult airway crisis is likely inadequate, as real-life opportunities to practice are rare. Frequent simulation training sessions could be helpful but are resource intensive. Virtual reality (VR) simulation training may be a potential tool to complement existing simulation curricula. METHODS: In this pilot qualitative study, a VR simulation scenario of an obstetric airway crisis was designed to test the decision-making of novice learners rotating through obstetric anesthesia training. Individual interviews were conducted pre-VR to assess learning needs and post-VR to assess perspectives on utilizing the VR teaching tool. The interviews were transcribed and thematically analyzed. RESULTS: Twenty-one residents were recruited and participated in the study. Analysis of pre-VR interviews identified three major themes, including gaps in the current curriculum, lack of confidence in managing obstetric difficult airway crises, and recognition that simulation is resource intensive. Post-VR interview themes revealed that VR could be helpful in learning decision-making under stress. Suggested improvements included better video and audio quality, and adding haptic feedback and potential multiplayer features in the future. CONCLUSION: We identified the advantages of VR simulation and its potential as an intervention to address gaps in our curriculum. Areas of improvement were identified for more effective future implementation.


Assuntos
Internato e Residência , Treinamento por Simulação , Realidade Virtual , Humanos , Currículo , Aprendizagem , Competência Clínica
3.
Malays J Pathol ; 43(3): 341-351, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34958055

RESUMO

INTRODUCTION: Hydatidiform moles (HMs) include complete and partial moles, are the result of abnormal fertilisation. The accurate classification of HMs and its distinction from non-molar specimens is utmost important for clinical management and risk assessment. It is diagnostically challenging if the distinction is based solely on histomorphology with poor interobserver reproducibility, especially in early gestations. This study aimed to investigate the diagnostic ability of combined p57 immunohistochemistry and DNA ploidy analysis to distinguish between complete moles, partial moles and non-molar abortus. MATERIALS AND METHODS: We included all HMs cases diagnosed in our centre over a six-year period. p57 immunohistochemistry stain was performed. Only nuclear immunoreactivity in >50% of cytotrophoblasts and villous stromal cells was regarded as positive for p57. DNA ploidy status was determined by fluorescence in situ hybridisation. A total of 250 cells from five chorionic villi were counted and were scored as diploid or triploid if more than 10% of nuclei demonstrated two or three signals, respectively. RESULTS: A total of 51 cases originally diagnosed by histomorphology as complete mole (n = 18), partial mole (n = 24) and non-molar abortus (n = 9) were recruited. The cases were reclassified based on the p57 immunostaining pattern and DNA ploidy status, into 27 complete moles (p57-/diploid), 9 partial moles (p57+/triploid) and 15 non-molar abortus (p57+/diploid). The diagnostic accuracy by histomorphological features alone in each category: complete moles, partial moles and non-molar abortus was 78.4%, 70.6% and 88.2% respectively. CONCLUSION: This study highlighted the importance of the utility of combined p57 immunostain and DNA ploidy analysis in arriving at an accurate diagnosis in HMs. An algorithmic approach utilising these ancillary techniques is advocated in routine diagnostic workup for a more refined diagnostic approach to HMs.


Assuntos
Mola Hidatiforme , Neoplasias Uterinas , Inibidor de Quinase Dependente de Ciclina p57/análise , Inibidor de Quinase Dependente de Ciclina p57/genética , DNA , Feminino , Humanos , Mola Hidatiforme/diagnóstico , Mola Hidatiforme/genética , Imuno-Histoquímica , Ploidias , Gravidez , Reprodutibilidade dos Testes , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/genética
4.
Quant Plant Biol ; 2: e7, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-37077204

RESUMO

Efficient photosynthesis requires a balance of ATP and NADPH production/consumption in chloroplasts, and the exportation of reducing equivalents from chloroplasts is important for balancing stromal ATP/NADPH ratio. Here, we showed that the overexpression of purple acid phosphatase 2 on the outer membranes of chloroplasts and mitochondria can streamline the production and consumption of reducing equivalents in these two organelles, respectively. A higher capacity of consumption of reducing equivalents in mitochondria can indirectly help chloroplasts to balance the ATP/NADPH ratio in stroma and recycle NADP+, the electron acceptors of the linear electron flow (LEF). A higher rate of ATP and NADPH production from the LEF, a higher capacity of carbon fixation by the Calvin-Benson-Bassham (CBB) cycle and a greater consumption of NADH in mitochondria enhance photosynthesis in the chloroplasts, ATP production in the mitochondria and sucrose synthesis in the cytosol and eventually boost plant growth and seed yields in the overexpression lines.

5.
Malays J Pathol ; 42(2): 301-305, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32860387

RESUMO

INTRODUCTION: Yolk sac tumour (YST) or endodermal sinus tumour is rare and typically seen in gonads. CASE REPORT: We described a case of extragonadal vaginal YST in a one year and seven months old girl who presented with vaginal discharge and bleeding, and discuss its differential diagnosis and potential pitfalls in immunohistochemistry. She was found to have a suprapubic mass on examination. The serum alpha fetoprotein was 11919.4 ng/mL. Computed tomography of the pelvis revealed a large 6.4 cm heterogenous pelvic mass. Colposcopic examination of the pelvis showed a fungating vaginal mass that was subsequently confirmed as a yolk sac tumour. Immunohistochemically, the malignant cells were positive toward CKAE1/AE3, AFP and glypican-3, as well as CD117. DISCUSSION: Solid pattern extragonadal vaginal YST may morphologically resemble dysgerminoma that is also CD117 positive, while the glandular pattern YST may have clear cytoplasm and is positive for cytokeratin; hence, may resemble clear cell carcinoma. Being mindful of these potential diagnostic caveats is necessary to prevent misdiagnosis.


Assuntos
Tumor do Seio Endodérmico , Neoplasias Vaginais , Biomarcadores Tumorais/metabolismo , Diagnóstico Diferencial , Disgerminoma/diagnóstico , Tumor do Seio Endodérmico/diagnóstico , Tumor do Seio Endodérmico/patologia , Feminino , Humanos , Imuno-Histoquímica , Lactente , Proteínas Proto-Oncogênicas c-kit/metabolismo , Sarcoma de Células Claras/diagnóstico , Vagina/patologia , Neoplasias Vaginais/diagnóstico , Neoplasias Vaginais/patologia
6.
Natl Sci Rev ; 6(6): 1073-1076, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34691977
7.
Asia Pac J Clin Oncol ; 13 Suppl 3: 3-13, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28795492

RESUMO

Since the identification of anaplastic lymphoma kinase (ALK) gene rearrangements in non-small cell lung cancer (NSCLC) in 2005, the treatment of ALK-rearranged NSCLC (ALK+ NSCLC) has evolved at a rapid pace. This molecularly distinct subset of NSCLC has uniquely important biology, clinicopathologic features and mechanisms of drug resistance which impact on the choice of treatment for a patient with this disease. There are multiple ALK tyrosine kinase inhibitors now available in clinical practice with efficacy data continuing to emerge and guide the optimal treatment algorithm. A detailed search of medical databases and clinical trial registries was conducted to capture all relevant articles on this topic enabling an updated detailed overview of the landscape of management of ALK-rearranged NSCLC.


Assuntos
Antineoplásicos/uso terapêutico , Carcinoma Pulmonar de Células não Pequenas/terapia , Neoplasias Pulmonares/terapia , Inibidores de Proteínas Quinases/uso terapêutico , Austrália , Carcinoma Pulmonar de Células não Pequenas/patologia , Humanos , Neoplasias Pulmonares/patologia
8.
Med J Malaysia ; 71(5): 256-258, 2016 10.
Artigo em Inglês | MEDLINE | ID: mdl-28064291

RESUMO

INTRODUCTION: Atrial fibrillation (AF) is the most common cardiac arrhythmia in singapore. We describe a cohort of multi-ethnic Asian patients with AF, with the aim to evaluate anticoagulation use and to identify factors predictive of stroke, bleeding and all-cause mortality. MATERIALS AND METHODS: this was a single centre, retrospective cohort study. All patients with an admission diagnosis of AF between 1 January 2000 and 31 December 2010 were identified. Of these patients, those who had follow-up data up to 31 December 2012 were included in the study. RESULTS: there were 1095 eligible patients. the mean age was 67±14 years, mean cHADs2 score was 2±1 and mean HAs-bLED score 2±1. Of the 1095 patients, 657 (62.0%) had a cHADs2 score ≥ 2 but only 215 (32.7%) were eventually prescribed warfarin. Patients not on warfarin were older (p<0.0001) and were more likely females (p<0.0001). Among patients not on warfarin, 52% had HAs-bLED score ≤3. Multivariate analysis revealed that warfarin use and high HAs-bLED score were associated with increased bleeding risk. Age, Indian ethnicity and cHADs2 score were predictive of ischemic stroke. All-cause mortality was significantly related to age, presence of heart failure and HAs-bLED score. CONCLUSIONS: Anticoagulation management of AF patients remains inadequate. Objective assessment of bleeding risks should be performed before withholding anticoagulation.


Assuntos
Anticoagulantes/uso terapêutico , Fibrilação Atrial/mortalidade , Acidente Vascular Cerebral/mortalidade , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Varfarina/uso terapêutico
9.
Bone Joint Res ; 2(8): 162-8, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23950158

RESUMO

OBJECTIVES: To determine the morbidity and mortality outcomes of patients presenting with a fractured neck of femur in an Australian context. Peri-operative variables related to unfavourable outcomes were identified to allow planning of intervention strategies for improving peri-operative care. METHODS: We performed a retrospective observational study of 185 consecutive adult patients admitted to an Australian metropolitan teaching hospital with fractured neck of femur between 2009 and 2010. The main outcome measures were 30-day and one-year mortality rates, major complications and factors influencing mortality. RESULTS: The majority of patients were elderly, female and had multiple comorbidities. Multiple peri-operative medical complications were observed, including pre-operative hypoxia (17%), post-operative delirium (25%), anaemia requiring blood transfusion (28%), representation within 30 days of discharge (18%), congestive cardiac failure (14%), acute renal impairment (12%) and myocardial infarction (4%). Mortality rates were 8.1% at 30 days and 21.6% at one year. Factors predictive of one-year mortality were American Society of Anesthesiologists (ASA) score (odds ratio (OR) 4.2 (95% confidence interval (CI) 1.5 to 12.2)), general anaesthesia (OR 3.1 (95% CI 1.1 to 8.5)), age > 90 years (OR 4.5 (95% CI 1.5 to 13.1)) and post-operative oliguria (OR 3.6 (95% CI 1.1 to 11.7)). CONCLUSIONS: Results from an Australian metropolitan teaching hospital confirm the persistently high morbidity and mortality in patients presenting with a fractured neck of femur. Efforts should be aimed at medically optimising patients pre-operatively and correction of pre-operative hypoxia. This study provides planning data for future interventional studies. Cite this article: Bone Joint Res 2013;2:162-8.

10.
Anaesthesia ; 68(9): 950-2, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23848465

RESUMO

The STOP-BANG questionnaire screens for obstructive sleep apnoea. We retrospectively analysed the independent association of pre-operative variables with postoperative critical care admission using multivariable logistic regression for patients undergoing elective surgery from January to December 2011. Of 5432 patients, 338 (6.2%) were admitted postoperatively to the critical care unit. In multivariate analysis, the odds ratios (95% CI) for critical care admission were: 2.2 (1.1-4.6), p = 0.037; 3.2 (1.2-8.1), p = 0.017; and 5.1 (1.8-14.9), p = 0.002, for STOP-BANG scores of 4, 5 and ≥ 6, respectively. The odds ratio was also independently increased for: each year of age, 1.015 (1.004-1.026), p = 0.019; asthma, 1.6 (1.1-2.4), p = 0.016; obstructive sleep apnoea, 3.2 (1.9-5.6), p < 0.001; and for ASA physical status 2, 3 and ≥ 4, 2.1 (1.4-3.3), 6.5 (3.9-11.0), 6.3 (2.9-13.8), respectively, p < 0.001 for all.


Assuntos
Cuidados Críticos/estatística & dados numéricos , Cuidados Pós-Operatórios/métodos , Complicações Pós-Operatórias/epidemiologia , Período Pré-Operatório , Apneia Obstrutiva do Sono/diagnóstico , Inquéritos e Questionários/normas , Adulto , Procedimentos Cirúrgicos Eletivos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Razão de Chances , Apneia Obstrutiva do Sono/epidemiologia
11.
Bioresour Technol ; 130: 181-6, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23306127

RESUMO

Oil palm shell, a waste from palm oil industry, was cleaned and utilized as adsorbent. Its particle size distribution gave the uniformity coefficient of approximately two indicating that it can be used as filter bed media for continuous operation without resting. Its measured pH(pzc) of 4.1 is below the common pH of constructed wetland water body suggesting positive adsorption for heavy metal. The effect of various parameters on its adsorption was studied via batch experiments. The adsorption of Cu(II) and Pb(II) ions by oil palm shell showed a slightly better fit with the Freundlich compared to Langmuir. Its monolayer adsorption capacities were found to be 1.756 and 3.390mg/g for Cu(II) and Pb(II), respectively. High correlation coefficient of over 0.99 given by the pseudo-second-order model suggests that the rate limiting factor may be chemisorption. These findings suggest its potential application as constructed wetland media for the removal of heavy metal.


Assuntos
Arecaceae/química , Metais Pesados/isolamento & purificação , Poluentes Químicos da Água/isolamento & purificação , Purificação da Água , Áreas Alagadas , Adsorção , Concentração de Íons de Hidrogênio , Cinética , Tamanho da Partícula , Termodinâmica
12.
Med J Malaysia ; 67(6): 582-4, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23770949

RESUMO

INTRODUCTION: Ventricular tachycardia (VT) storm is an uncommon but life-threatening condition. We describe the incidence, causes and management of VT storm among patients admitted to the coronary care unit of a large tertiary hospital. MATERIALS AND METHODS: Between 1 November 2009 and 30 April 2010, 198 patients were admitted to the coronary care unit and 7 (3.5%) presented with VT storm. A retrospective review of their records was conducted. The mean follow-up period was 268 (196 to 345) days. RESULTS: The mean age was 67 years and 4 patients were male. One patient had a previous myocardial infarction. All had abnormal left ventricular ejection fraction, median of 30%. Acute myocardial infarction (4 patients) was the most common trigger, followed by decompensated heart failure (1), systemic inflammatory response syndrome on a background of non-ischemic dilated cardiomyopathy (1) and bradycardia-induced polymorphic VT (1). Three patients had polymorphic VT and the rest had monomorphic VT. Intravenous amiodarone, lignocaine, overdrive pacing and intra-aortic balloon pump counterpulsation were useful in arrhythmia control. Three patients underwent coronary revascularization, 3 patients received implantable cardioverter-defibrillators, 1 had a permanent cardiac pacemaker, 1 died during the acute episode. Five out of the 6 survivors were prescribed oral beta-blockers upon discharge. On follow-up, none of the patients had a recurrence of the tachyarrhythmia. CONCLUSION: Acute myocardial infarction was the main trigger of VT storm in our patients. Intravenous amiodarone, lignocaine, overdrive pacing and intra-aortic balloon pump counterpulsation were useful at suppressing VT storm.


Assuntos
Desfibriladores Implantáveis , Taquicardia Ventricular , Seguimentos , Insuficiência Cardíaca , Humanos , Infarto do Miocárdio , Estudos Retrospectivos
13.
Hong Kong Med J ; 16(6): 427-33, 2010 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-21135418

RESUMO

OBJECTIVES: To assess the clinical utility of fluorescence in-situ hybridisation with chromosomes 13, 18, 21, X and Y as a stand-alone test in detecting chromosomal abnormalities, and the types of chromosomal abnormalities missed. DESIGN: Retrospective analysis. SETTING: A restructured Government hospital in Singapore and an academic hospital in the United States. PARTICIPANTS: Cytogenetic data of prenatal specimens and results of fluorescence in-situ hybridisation of 5883 patients performed between January 2000 and August 2007 were reviewed. RESULTS: Fluorescence in-situ hybridisation detected 558 (9.5%) patients with chromosomal abnormalities. Abnormal ultrasounds (70%) and maternal serum screens (21%) were the most indicative of chromosomal abnormalities. When comparing fluorescence in-situ hybridisation data with karyotype results for the five chromosomes of interest, the sensitivity and specificity were 99.3% and 99.9%, respectively. When comparing fluorescence in-situ hybridisation data with karyotype results for all chromosomes, the sensitivity decreased to 86.8%, whereas the specificity remained at 99.9%. Of 643 cases with karyotype abnormalities, 85 were fluorescence in-situ hybridisation-negative (false negative rate, 13.2%), which included structural rearrangements, chromosome mosaicism, and other trisomies. Despite abnormal ultrasound indications, fluorescence in-situ hybridisation missed 32 cases which included structural rearrangements, mosaicisms, and other trisomies. CONCLUSION: This study does not support fluorescence in-situ hybridisation as a stand-alone test. Institutions supporting fluorescence in-situ hybridisation as a stand-alone test must seriously consider the risks of a missed diagnosis.


Assuntos
Aneuploidia , Hibridização in Situ Fluorescente/métodos , Diagnóstico Pré-Natal/métodos , Adulto , Feminino , Humanos , Idade Materna , Gravidez , Estudos Retrospectivos
14.
Br J Radiol ; 82(984): e240-2, 2009 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19934063

RESUMO

Right atrial thrombus formation is a known complication of dialysis catheter placements. We describe the case of a 61-year-old woman with end-stage renal failure who presented with gram-negative septicaemia. A gas-containing filling defect was noted incidentally in the right atrium during a CT scan of the abdomen and pelvis, indicative of a thrombus infected by a gas-forming organism. The finding correlated with a positive blood culture of Klebsiella pneumoniae and the two-dimensional echocardiography finding of an echogenic atrial thrombus.


Assuntos
Cateterismo Venoso Central/efeitos adversos , Cardiopatias/diagnóstico por imagem , Infecções por Klebsiella/etiologia , Klebsiella pneumoniae , Trombose/diagnóstico por imagem , Cateteres de Demora/efeitos adversos , Feminino , Átrios do Coração/diagnóstico por imagem , Cardiopatias/etiologia , Humanos , Falência Renal Crônica/terapia , Infecções por Klebsiella/diagnóstico por imagem , Pessoa de Meia-Idade , Diálise Renal/efeitos adversos , Trombose/etiologia , Tomografia Computadorizada por Raios X
16.
Anaesth Intensive Care ; 36(3): 379-84, 2008 May.
Artigo em Inglês | MEDLINE | ID: mdl-18564799

RESUMO

Patients scheduled for elective surgery requiring general anaesthesia and hospital admission were assessed for risk of obstructive sleep apnoea (OSA) using history, body mass index and upper airway examination to determine any relation between OSA risk and the rate of respiratory events after surgery. Anaesthesia and postoperative analgesia were at the discretion of the treating anaesthetist, who was made aware of any suspicion of OSA. Respiratory monitoring for apnoeas (central or obstructive), hypopnoeas and oxygen desaturations was continuous for a 12-hour period on the first postoperative night. We used automated analysis and visual scanning of respiratory recordings, but sleep stages were not assessed. Patients classified as OSA risk had more respiratory obstructive events per hour than controls (38+/-22 vs. 14+/-10) and an increased proportion of the 12-hour monitored period with oxygen saturation <90% (7+/-12% vs. 2+/-5% of the 12-hour period). Perioperative morphine dose was predictive of central apnoeas for both OSA risk and control patients (P=0.002). This study suggests that preoperative suspicion of OSA should lead to increased postoperative monitoring and efforts to minimise sedation and opioid dose. It also supports the routine use of supplemental oxygen with patient-controlled opioid analgesia.


Assuntos
Obstrução das Vias Respiratórias/diagnóstico , Hipóxia/diagnóstico , Complicações Pós-Operatórias/diagnóstico , Apneia Obstrutiva do Sono/diagnóstico , Adolescente , Adulto , Idoso , Obstrução das Vias Respiratórias/prevenção & controle , Índice de Massa Corporal , Feminino , Humanos , Hipóxia/prevenção & controle , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Monitorização Intraoperatória , Oxigênio/sangue , Complicações Pós-Operatórias/prevenção & controle , Período Pós-Operatório , Valor Preditivo dos Testes , Medição de Risco
17.
Community Genet ; 11(3): 129-34, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18376108

RESUMO

BACKGROUND/AIMS: Individuals with double heterozygosity for alpha- and beta-thalassaemia and heterozygous beta-thalassaemia show a similar haematological picture. Co-inheritance of alpha- and beta-thalassaemia in both partners may result in pregnancies with either Hb Bart's hydrops foetalis or beta-thalassaemia major, or pregnancies with both disorders. METHODS: The co-inheritance of alpha-thalassaemia in 322 beta-thalassaemia carriers in Malaysia was studied. RESULTS: The frequency of alpha-thalassaemia in the beta-thalassaemia carriers was 12.7% (41/322), with a carrier frequency of 7.8% for the SEA deletion, 3.7% for the -alpha(3.7) deletion, 0.9% for Hb Constant Spring and 0.3% for the -alpha(4.2) deletion. CONCLUSION: Double heterozygosity for alpha- and beta-thalassaemia was confirmed in 5 out of the 41 couples and the risk of the fatal condition Hb Bart's hydrops foetalis was confirmed in two of these couples. Detection of the Southeast Asian (SEA) deletion in the Malaysian Malays in this study confirms that Hb Bart's hydrops foetalis can occur in this ethnic group. Results of this study have provided new information on the frequency and different types of alpha-thalassaemia (--(SEA), -alpha(3.7) and -alpha(4.2) deletions, Hb Constant Spring) in Malaysian beta-thalassaemia carriers.


Assuntos
Talassemia alfa/genética , Talassemia beta/genética , Povo Asiático/genética , China/etnologia , Feminino , Ligação Genética , Heterozigoto , Humanos , Índia/etnologia , Padrões de Herança/genética , Malásia/epidemiologia , Masculino , Gravidez , Diagnóstico Pré-Natal , Estudos Retrospectivos , Talassemia alfa/diagnóstico , Talassemia alfa/etnologia , Talassemia beta/diagnóstico , Talassemia beta/etnologia
18.
Clin Exp Med ; 4(3): 142-7, 2004 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-15599663

RESUMO

Beta-thalassemia is the most-common genetic disorder of hemoglobin synthesis in Malaysia, and about 4.5% of the population are heterozygous carriers of the disorder. Prenatal diagnosis was performed for 96 couples using the Amplification Refractory Mutation System and Gap-Polymerase Chain Reaction. We identified 17 beta-globin defects-initiation codon for translation (T-G), -29 (A-G), -28 (A-G), CAP +1 (A-C), CD 8/9 (+G), CD 15 (G-A), CD 17 (A-T), CD 19 (A-G), Hb E (G-A), IVS1-1 (G-T), IVS1-5 (G-C), CD 41/42 (-CTTT), CD 71-72 (+A), IVS2-654 (CT), poly A(A-G), 100-kb Ggamma(Agammadeltabeta) degrees and 45-kb Filipino deletions. The 192 beta-alleles studied comprised Chinese (151 patients), Malay (21), Orang Asli from East Malaysia (15), Filipino (1), Indian (1), Indonesian Chinese (2), and Thai (1). In the Chinese, 2 beta-globin defects at CD 41/42 and IVS2-654 were responsible for 74% of beta-thalassemia. beta-mutations at CD 19, IVS1-1 (G-T), IVS1-5, poly A, and hemoglobin E caused 76% of the hemoglobin disorders in the Malays. The Filipino 45-kb deletion caused 73.3% of bthalassemia in the Orang Asli. Using genomic sequencing, the rare Chinese beta-mutation at CD 43 (G-T) was confirmed in 2 Chinese, and the Mediterranean mutation IVS1-1 (G-A) was observed in a Malay beta-thalassemia carrier. The beta-globin mutations confirmed in this prenatal diagnosis study were heterogenous and 65 (68%) couples showed a different globin defect from each other. The use of specific molecular protocols has allowed rapid and successful prenatal diagnosis of beta-thalassemia in Malaysia.


Assuntos
Povo Asiático/genética , Etnicidade/genética , Globinas/genética , Diagnóstico Pré-Natal , Talassemia beta/diagnóstico , Talassemia beta/genética , Amostra da Vilosidade Coriônica , Análise Mutacional de DNA , Doenças Fetais/diagnóstico , Doenças Fetais/epidemiologia , Doenças Fetais/genética , Humanos , Malásia/epidemiologia , Mutação/genética , Reação em Cadeia da Polimerase , Talassemia beta/epidemiologia
20.
Ann Acad Med Singap ; 33(4): 537-40, 2004 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-15329773

RESUMO

INTRODUCTION: The goal of cytogenetics is the detection of chromosomal abnormalities, achieved by the analysis of adequate numbers of metaphases at the appropriate bands per haploid set (BPHS). CLINICAL PICTURE: Two cases presented here include a foetal blood sample (FBS) of a 33-week-old referred with holoproscencephaly by ultrasonography, and an amniotic fluid (AF) specimen of a 14-week-old foetus with cystic hygroma, cardiac and renal defects. OUTCOME: The FBS had a deletion at 18p11.31. Another laboratory had earlier given a normal cytogenetic result on its AF sample. In the second case, an unbalanced 46,XY,der(5)ins(5;3) (q33.1;q26.2q27)mat karyotype was obtained with the AF sample. In both cases, the abnormalities were more obvious when band levels were > or =450 BPHS. CONCLUSION: This report underscores the importance of obtaining longer chromosome preparations above the current recommended 400 BPHS for prenatal specimens. This is particularly important in cases with abnormal ultrasound findings suggestive of an underlying chromosomal pathology.


Assuntos
Bandeamento Cromossômico , Holoprosencefalia/diagnóstico , Linfangioma Cístico/diagnóstico , Adulto , Líquido Amniótico , Cromossomos Humanos Par 5/genética , Elementos de DNA Transponíveis , Feminino , Rearranjo Gênico , Holoprosencefalia/diagnóstico por imagem , Holoprosencefalia/genética , Humanos , Linfangioma Cístico/diagnóstico por imagem , Linfangioma Cístico/genética , Gravidez , Ultrassonografia Pré-Natal
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