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1.
Intern Med J ; 41(12): 809-14, 2011 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-20546061

RESUMO

BACKGROUND: Previous studies in Western countries found that the emergency medical service (EMS) was under-used in patients with myocardial infarction. AIM: We sought to determine the prevalence of immediate EMS utilisation among Singapore patients presenting with ST-segment elevation myocardial infarction (STEMI), and correlated the use of the EMS with the symptom-to-balloon and door-to-balloon times. METHODS: We studied 252 patients admitted with STEMI to our institution from August 2008 to September 2009. Information regarding demographic characteristics, whether EMS was used, reperfusion procedural details and mortality rates were collected prospectively. RESULTS: Among the recruited patients, 89 (35.3%) used the EMS (EMS group) and 163 (64.7%) did not use the EMS (non-EMS group). In the latter group, 98 (60.1%) arrived at our institution through their own transport, 56 (34.4%) first consulted general practitioners, and 9 (5.5%) initially consulted another hospital without acute medical services. Among the 245 (out of 252, 97.2%) patients who received percutaneous coronary intervention (PCI), the EMS group was more likely to undergo primary PCI (P= 0.003) while the non-EMS group was more likely to undergo non-urgent PCI (P= 0.002). In patients who underwent primary PCI, the EMS group had a shorter symptom-to-balloon time (average difference 81.6 min, P= 0.002). The door-to-balloon time was similar for both groups. CONCLUSION: Despite the availability of a centralised EMS, 64.7% of patients with STEMI did not contact EMS at presentation. These patients were less likely to receive primary PCI and had a significantly longer symptom-to-balloon time.


Assuntos
Serviços Médicos de Emergência/estatística & dados numéricos , Infarto do Miocárdio/epidemiologia , Infarto do Miocárdio/terapia , Adulto , Estudos de Coortes , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Isquemia Miocárdica/epidemiologia , Isquemia Miocárdica/terapia , Prevalência , Estudos Prospectivos , Singapura/epidemiologia , Inquéritos e Questionários , Fatores de Tempo
2.
Clin Exp Allergy ; 39(4): 571-8, 2009 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-19134020

RESUMO

BACKGROUND: The role of probiotics in allergy prevention remains uncertain but has been shown in some studies to have a possible protective effect on eczema. OBJECTIVE: We aimed to assess the effect of probiotic supplementation in the first 6 months of life on eczema and allergic sensitization at 1 year of age in Asian infants at risk of allergic disease. METHODS: A double-blind, placebo-controlled randomized clinical trial involving 253 infants with a family history of allergic disease was carried out. Infants received at least 60 mL of commercially available cow's milk formula with or without probiotic supplementation [Bifidobacterium longum (BL999) 1 x 10(7) colony forming unit (CFU)/g and Lactobacillus rhamnosus (LPR) 2 x 10(7) CFU/g] daily for the first 6 months. Clinical evaluation was performed at 1, 3, 6 and 12 months of age, with serum total IgE measurement and skin prick tests conducted at the 12-month visit. The primary and secondary end-points were eczema and allergen sensitization, respectively. RESULTS: The incidence of eczema in the probiotic (22%) group was similar to that in the placebo group (25%) (P=0.53). The median Scoring Atopic Dermatitis score at 12 months was 17.10 (9.74) in the probiotic group and 11.60 (8.40) in the placebo group (P=0.17). The prevalence of allergen sensitization showed no difference (probiotic=24% vs. placebo=19%, P=0.26). The total IgE geometric mean (95% confidence interval) was 18.76 (12.54-24.98) kU/L in the probiotic group and 23.13 (16.01-30.24) kU/L in the placebo group (P=0.15). Atopic eczema (with sensitization) in the probiotic (7.3%) group was comparable to the placebo group (5.8%) (P=0.86). CONCLUSION: Early life administration of a cow's milk formula supplemented with probiotics showed no effect on prevention of eczema or allergen sensitization in the first year of life in Asian infants at risk of allergic disease. Further work is needed to determine whether timing of supplementation, dose and probiotic strain are important considerations.


Assuntos
Bifidobacterium , Suplementos Nutricionais , Eczema/prevenção & controle , Hipersensibilidade/prevenção & controle , Lacticaseibacillus rhamnosus , Probióticos/uso terapêutico , Alérgenos/imunologia , Animais , Ásia , Bifidobacterium/imunologia , Método Duplo-Cego , Eczema/imunologia , Feminino , Humanos , Hipersensibilidade/imunologia , Imunoglobulina E/sangue , Lactente , Fórmulas Infantis , Masculino , Pyroglyphidae/imunologia , Testes Cutâneos
3.
Colorectal Dis ; 11(5): 496-501, 2009 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-18662242

RESUMO

OBJECTIVE: There is a relative dearth of literature comparing hand-assisted (HALC) to standard (SLC) laparoscopic colectomies. HALC seems beneficial in terms of shorter operative times and lower conversion rates, but this is counterbalanced by a greater inflammatory response, larger incisions and higher direct costs. Nevertheless, these results are not consistent throughout existing studies and there are to date no detailed cost comparisons. Our hypothesis was that HALC would not incur significantly higher institutional costs compared with standard laparoscopic techniques. METHOD: Patients undergoing either SLC or HALC between August 2004 and September 2006 were retrospectively reviewed. All patients were managed using a standard protocol. Outcomes assessed included operative times, conversion rates, pain scores, time to resolution of ileus, length of stay and complications. Total costs were calculated from the day of surgery. Statistical analyses included chi(2), Fisher's exact test, the Mann-Whitney U-test or nonparametric bootstrapping method. RESULTS: Seventy-three patients underwent SLC while 101 had HALC. Demographics and indications for surgery in both groups were similar; the majority were performed for colorectal cancers. Operative times were shorter (147.5 vs 172.5 min, P < 0.05) and complication rates lower (28.7%vs 45.2%, P < 0.025) for HALC. There was no significant difference in the other clinical outcomes. Operative costs and cost of consumables were higher for HALC (US$4024.2 vs US$3568.1, P = 0.01 and US$1724.7 vs US$1302.7, P < 0.001, respectively). However, total costs were not significantly different (HALC US$8999.8, SLC US$7910.7, P = 0.11). CONCLUSION: Institutional costs are not significantly higher for HALC compared with SLC.


Assuntos
Colectomia/economia , Laparoscopia/economia , Complicações Pós-Operatórias/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Colectomia/métodos , Neoplasias do Colo/cirurgia , Custos e Análise de Custo , Feminino , Humanos , Laparoscopia/métodos , Masculino , Pessoa de Meia-Idade , Neoplasias Retais/cirurgia , Estudos Retrospectivos
4.
Asia Pac J Public Health ; 19(1): 18-27, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17784655

RESUMO

The survey is aimed to describe the epidemiology of playground related injuries in Singapore based on the ICD-9, AIS/ ISS and PTS scoring systems, and mechanisms and causes of such injuries according to E codes and ICECI codes. A cross-sectional questionnaire survey examined children (< 16 years old), who sought treatment for or died of unintentional injuries in the ED of three hospitals, two primary care centers and the sole Forensic Medicine Department of Singapore. A data dictionary was compiled using guidelines from CDC/WHO. The ISS, AIS and PTS, ICD-9, ICECI v1 and E codes were used to describe the details of the injuries. 19,094 childhood injuries were recorded in the database, of which 1617 were playground injuries (8.5%). The injured children (mean age=6.8 years, SD 2.9 years) were predo-minantly male (M:F ratio = 1.71:1). Falls were the most frequent in-juries (70.7%) using ICECI. 25.0% of injuries involved radial and ulnar fractures (ICD-9 code). 99.4% of these injuries were minor, with PTS scores of 9-12. Children aged 6-10 years, were prone to upper limb injuries (71.1%) based on AIS. The use of international coding systems in injury surveillance facilitated standardisation of description and comparison of playground injuries.


Assuntos
Controle de Formulários e Registros/normas , Classificação Internacional de Doenças , Cooperação Internacional , Jogos e Brinquedos , Ferimentos e Lesões/classificação , Ferimentos e Lesões/etiologia , Criança , Feminino , Humanos , Masculino , Singapura
5.
Allergy ; 62(5): 527-31, 2007 May.
Artigo em Inglês | MEDLINE | ID: mdl-17313402

RESUMO

BACKGROUND: To describe the acute and late ocular manifestations and complications in toxic epidermal necrosis (TEN) and Stevens-Johnson syndrome (SJS), and identify predictors for development of late complications. METHODS: Cases of TEN and SJS during a 9-year period were included. Patients with ocular involvement were reviewed for acute ocular complications. Patients with a minimum 6 months follow-up were reviewed for late complications. Records were reviewed for their demographics, etiology, and severity of ocular involvement. RESULTS: There were 117 patients with a mean age of 52.2 +/- 18.6 years. Eighty-one of these (69%) had acute ocular involvement. This was mild in 40%, moderate in 25% and severe in 4%. Adverse drug reactions were the predominant cause. Patients with thrombocytopenia had more severe acute ocular involvement. Forty-four patients had a minimum 6 months of follow-up and half developed late complications. Severe dry eyes and trichiatic lashes were the commonest late complications. Patients treated with topical antibiotic were more likely to have late complications, particularly dry eyes. There was no difference in the severity of acute eye involvement or late complications when SJS and TEN patients were compared. The severity of the acute ocular disease and abnormal laboratory tests were not found to be the significant risk factors of late complications. CONCLUSIONS: Ocular involvement is common in SJS and TEN and can be severe and blinding. The severity of acute ocular complications does not predict late complications. The diagnosis of TEN does not imply a more severe ocular involvement or increased frequency of late ocular complications compared with SJS. Care should be taken even in mild cases. Appropriate intervention during acute ocular disease may prevent late complications.


Assuntos
Oftalmopatias/patologia , Síndrome de Stevens-Johnson/patologia , Ásia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Estudos Retrospectivos , Síndrome de Stevens-Johnson/complicações
6.
Int Endod J ; 39(11): 886-9, 2006 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-17014527

RESUMO

AIM: To assess the survival rate of root filled cracked teeth over a 2-year period in a tertiary institute. METHODOLOGY: Forty-nine patients who had root canal treatment completed on their cracked teeth at the National Dental Centre (Singapore) were recalled for a 2-year review. Collected review data included presence of periodontal pocketing, sinus tract and swelling associated with the teeth. The date of extraction was noted if a tooth was missing at review. Pre-treatment data collected were number, extent and location of crack, presence of periodontal pocketing, patients' age and gender, location of cracked teeth, type of teeth and presence of terminal cracked tooth. RESULTS: Fifty teeth in 49 patients were included. The Kaplan-Meier estimate of 2-year survival rate was 85.5% (95% confidence interval: 75.5-95.5). Cracked teeth which were the terminal teeth in the dental arch (RR = 4.9, 95% CI: 1.2-2.0, P = 0.04), teeth with pre-root filling periodontal pocketing (RR = 4.9, 95% CI: 1.2-2.0, P = 0.04) and teeth with multiple cracks (RR = infinity, 95% CI: 1.9-infinity, P = 0.01) were more likely to be extracted. CONCLUSIONS: Within the limitations of this study, multiple cracks, terminal teeth and pre-root filling pocketing were significant prognostic factors for the survival of root filled cracked teeth.


Assuntos
Síndrome de Dente Quebrado/fisiopatologia , Tratamento do Canal Radicular , Adulto , Fatores Etários , Idoso , Dente Pré-Molar/patologia , Síndrome de Dente Quebrado/classificação , Coroas , Amálgama Dentário , Restauração Dentária Permanente , Feminino , Seguimentos , Humanos , Masculino , Mandíbula , Maxila , Pessoa de Meia-Idade , Dente Molar/patologia , Fístula Bucal/classificação , Bolsa Periodontal/classificação , Fatores Sexuais , Taxa de Sobrevida , Extração Dentária , Dente não Vital/fisiopatologia
7.
Br J Neurosurg ; 20(2): 73-8, 2006 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-16753620

RESUMO

The objective of this study was to investigate if there are possible gender differences in relation to outcome following closed severe traumatic brain injury (TBI) in a predominantly Asian population. A study was conducted using our prospectively maintained TBI database of 672 patients with severe TBI admitted into our neurosurgical intensive care unit. All patients were managed on a standardized protocol in accordance with the Guidelines to the management of severe traumatic brain injury. Glasgow Outcome Score was used to measure the outcome of patients 6 months postinjury. There were 525 males and 147 females, with the latter significantly older than their counterpart. Females had a significantly higher mortality and poorer outcome compared with males. However, this difference was no longer significant when variables (presence of multiple injuries, postresuscitation pupil abnormalities and Glasgow Coma Score) are controlled for. However, both crude and adjusted odd ratios revealed that females aged 60 and below were significantly more likely to have a poorer outcome.


Assuntos
Lesões Encefálicas/terapia , Acidentes , Adolescente , Adulto , Distribuição por Idade , Idoso , Idoso de 80 Anos ou mais , Lesões Encefálicas/epidemiologia , Lesões Encefálicas/mortalidade , Criança , Feminino , Escala de Coma de Glasgow , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Fatores de Risco , Distribuição por Sexo , Fatores Sexuais , Singapura/epidemiologia , Resultado do Tratamento
8.
Singapore Med J ; 47(1): 27-30, 2006 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-16397717

RESUMO

INTRODUCTION: Identifying and controlling cardiovascular risk factors at an early age may prevent cases of young myocardial infarction (MI). We studied age-related differences in the cumulative incidence of risk factors and the adequacy of primary prevention by surveying 1,556 patients with a first MI admitted to a tertiary hospital in Singapore. METHODS: This is a single centre registry-based study on patients admitted with a first MI to a tertiary hospital in Singapore. We stratified the cohort into younger (45 years of age and younger) and older (older than 45 years of age) groups. The presence of five risk factors, namely: hypertension, diabetes mellitus (DM), smoking, a family history of premature MI, and hyperlipidaemia, was assessed at the point of care by interview and prior medical records when obtainable. We also determined by the same methods, if these patients were receiving active treatment for DM, hypertension or hyperlipidaemia prior to their first MI. Lipid levels were measured within 24 hours of admission. RESULTS: 96 percent of patients 45 years and younger and 92 percent of those older than 45 years had at least one antecedent risk factor. The 45 years and younger age group had a higher incidence of untreated hypertension (odds ratio 2.99, 95 percent confidence interval 2.00-4.46, p-value is less than 0.001) and hyperlipidaemia (odds ratio 1.71, 95 percent confidence interval 1.20 - 2.43, p-value is equal to 0.002). CONCLUSION: A majority of young patients with a first MI have at least one identifiable antecedent risk factor. There is significant undertreatment of hypertension and hyperlipidaemia in this age group.


Assuntos
Hiperlipidemias/epidemiologia , Hipertensão/epidemiologia , Infarto do Miocárdio/epidemiologia , Adulto , Fatores Etários , Idoso , Estudos de Coortes , Diabetes Mellitus/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Sistema de Registros , Estudos Retrospectivos , Fatores de Risco , Singapura/epidemiologia , Fumar/epidemiologia
9.
Ann Acad Med Singap ; 34(10): 595-601, 2005 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-16382243

RESUMO

INTRODUCTION: The breast cancer incidence among Singapore women has risen through the years and is now the highest in Asia. Despite efforts to promote a greater awareness of breast cancer among the public, a significant number of patients still present with locally advanced or metastatic breast cancer. Our study aims to evaluate the clinical and pathological characteristics between patients presenting with locally advanced (LABC) and metastatic breast cancer (MBC) and those presenting with early breast cancer (EBC), to identify factors that predict for advanced disease. MATERIALS AND METHODS: We reviewed 622 patients who were newly diagnosed with invasive breast cancer in our department over a 4-year period from January 2000 to December 2003. Patient and tumour characteristics including age, parity, family history, tumour size and histology, grade and hormonal receptor status were analysed. Comparisons were made between those with EBC and those with LABC and MBC, as well as between Malay women and women of other ethnic groups. RESULTS: One hundred and thirty-four patients (21.5%) presented with either LABC or MBC. Adjusted analysis found that these patients were older and more likely to be nulliparous than those with EBC. Older patients tend to have larger tumours, but otherwise, age and parity did not correlate with tumour histology, grade or hormonal status. It was noted that Malay women, who were more likely to present with LABC or MBC, were more likely to have oestrogen receptor- and progesterone receptor-negative tumours. CONCLUSIONS: Older women and those who were nulliparous were found more likely to present with LABC and MBC. However, age and parity did not appear to be related to tumour histology, grade and hormonal status. Given that tumour size and stage have the greatest impact on overall survival, efforts to raise public awareness of the benefits of early detection and treatment should be continued, and possibly directed towards these groups of women who appear to be at an increased risk of presenting late.


Assuntos
Neoplasias da Mama/epidemiologia , Hospitais Gerais/estatística & dados numéricos , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias da Mama/patologia , Neoplasias da Mama/secundário , Feminino , Humanos , Incidência , Pessoa de Meia-Idade , Invasividade Neoplásica , Metástase Neoplásica , Estadiamento de Neoplasias , Estudos Retrospectivos , Singapura/epidemiologia
10.
Ann Acad Med Singap ; 33(5): 623-9, 2004 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-15531959

RESUMO

INTRODUCTION: The study aimed to assess the effectiveness of massive SARS public education effort on SARS awareness and the conduct of those suspected of having SARS. MATERIALS AND METHODS: Five hundred and ninety-three respondents attending the National Healthcare Group Polyclinics (NHGP) participated in the survey from 9 to 13 June 2003. Associations between awareness of SARS symptoms and (i) first action to be taken and (ii) mode of transportation used, if the respondent was suspected of having SARS, were analysed using Chi-square or Fisher's exact tests. Logistic regression was performed to adjust for relevant covariates. RESULTS: The majority (92.7%) of the respondents were aware of SARS symptoms. Television (91.6%), newspaper (65.2%) and radio (30.4%) formed the top 3 sources of information on SARS. Slightly more than half (51.6%) of those who suspect themselves of having SARS would choose to visit their primary health care doctors, while 22.7% of the respondents would go to Tan Tock Seng Hospital (TTSH). If they suspected themselves to have SARS, most (84.9%) of the 578 respondents would react appropriately by taking the SARS ambulance or driving themselves to TTSH. However, 60 respondents would nonetheless take public transport to TTSH [by taxi 8.5%, mass rapid transit (MRT) or bus 1.9%]. In particular, the retired with lower educational levels were likely to be oblivious both to the symptoms of SARS and the possible consequences of travelling by inappropriate transport. CONCLUSION: Despite more than 2 months of intensive SARS public education in Singapore, there remain important gaps in knowledge and appropriate behaviour that have to be bridged.


Assuntos
Instituições de Assistência Ambulatorial/estatística & dados numéricos , Atitude Frente a Saúde , Controle de Doenças Transmissíveis , Síndrome Respiratória Aguda Grave/diagnóstico , Síndrome Respiratória Aguda Grave/terapia , Coronavírus Relacionado à Síndrome Respiratória Aguda Grave/isolamento & purificação , Adolescente , Adulto , Distribuição por Idade , Idoso , Assistência Ambulatorial , Conscientização , Intervalos de Confiança , Surtos de Doenças/prevenção & controle , Feminino , Inquéritos Epidemiológicos , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Razão de Chances , Probabilidade , Medição de Risco , Estudos de Amostragem , Síndrome Respiratória Aguda Grave/epidemiologia , Distribuição por Sexo , Singapura/epidemiologia , Taxa de Sobrevida
11.
Ann Acad Med Singap ; 33(4): 489-93, 2004 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-15329762

RESUMO

BACKGROUND AND METHODS: We sought to review established prognostic indicators applied to Asian population, and to identify new risk factors for deterioration in patients who talked and deteriorated after traumatic brain injury (TBI). This retrospective study used our prospectively maintained TBI database. From August 1999 to July 2001, 324 patients were admitted to the neurosurgical intensive care unit (ICU). Thirty-eight patients (11.8%) talked between injury and subsequent deterioration into coma. Independent outcome predictors were studied. RESULTS AND CONCLUSION: Fourteen patients had subdural haematomas, 9 extradural haematomas, 19 contusions/haematomas and 3 subarachnoid haemorrhages. 81.5% of the patients had mass lesions potentially requiring surgery. Twenty patients had good functional recovery at 6 months (Glasgow Outcome Score 4 and 5); 18 were dead or vegetative. Age, gender, type of intracranial lesion and presence of coagulopathy were significantly correlated with outcome. Intracranial haematomas continue to be most significant in patients who talk and deteriorate. Coagulopathy was the strongest prognostic predictor of poor outcome with fibrinolytic parameters being reliable prognostic markers of head injury. Early identification, continued monitoring and treatment of coagulopathy should be our new look at improving outcome of these patients.


Assuntos
Lesões Encefálicas/diagnóstico , Coma Pós-Traumatismo da Cabeça/diagnóstico , Adolescente , Adulto , Idoso , Lesões Encefálicas/complicações , Progressão da Doença , Coagulação Intravascular Disseminada/etiologia , Feminino , Fibrinólise , Escala de Resultado de Glasgow , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Fatores de Risco
13.
Lancet ; 354(9188): 1444-5, 1999 Oct 23.
Artigo em Inglês | MEDLINE | ID: mdl-10543676

RESUMO

We report a 46,XY infant with an M807T mutation in his androgen receptor that abrogated cellular responses to testosterone, but not to dihydrotestosterone (DHT), resulting in ambiguous genitalia. Treatment with a topical DHT gel restored male genital development allowing the infant to be reared in accordance with his chromosomal sex.


Assuntos
Síndrome de Resistência a Andrógenos/tratamento farmacológico , Di-Hidrotestosterona/uso terapêutico , Monitoramento de Medicamentos/métodos , Hormônios Esteroides Gonadais/uso terapêutico , Administração Tópica , Síndrome de Resistência a Andrógenos/diagnóstico , Síndrome de Resistência a Andrógenos/genética , Humanos , Recém-Nascido , Masculino , Receptores Androgênicos/efeitos dos fármacos , Ativação Transcricional/efeitos dos fármacos
15.
Artigo em Inglês | MEDLINE | ID: mdl-8629117

RESUMO

Hb Q (alpha 74Asp-His) results from a mutation in the alpha-gene such that abnormal alpha Q-chains are synthesized. The alpha Q-chains combine with the normal Beta A-chains to form abnormal Hb alpha 2Q beta 2A (Hb Q). Hb Q-H disease is rare, and has been reported only in the Chinese. We report here a Chinese family, were the mother diagnosed with Hb Q-H disease and the father with Hb E heterozygosity and a child with Hb Q-E-thalassemia. Thalassemia screening of the mother's blood revealed a Hb level of 6.8g/dl with low MCV and MCH. Her blood film was indicative of thalassemia. Cellulose acetate electrophoresis showed Hb H and Hb Q with the absence of Hb A. Globin chain biosynthesis was carried out and alpha Q- and beta-chains were detected. Normal alpha- chains were absent. Digestion of the mother's DNA with Bam HI and Bgl II followed by hybridization with the 1.5 kb alpha-Pst probe showed a two alpha-gene deletion on one chromosome and the -alpha Q chain mutant with the -alpha 4.2 defect on the other chromosome. DNA amplification studies indicated the two-gene deletion to be of the -SEA/ defect. The patient was concluded to possess Hb Q-H disease (--SEA/-alpha 4.2Q). Cellulose acetate electrophoresis of the father's blood showed the presence of Hb A, F and E. Molecular analysis of the father's DNA confirmed an intact set of alpha-genes (alpha alpha/alpha alpha). Globin chain biosynthesis of fetal blood of their child showed gamma, beta A, beta E, alpha A and alpha Q-chains. Molecular analysis of the child's DNA showed one alpha-gene deletion, thus giving a genotype of alpha alpha/-alpha 4.2Q beta beta E.


Assuntos
Hemoglobina E/genética , Hemoglobina H/genética , Hemoglobinopatias/sangue , Hemoglobinopatias/genética , Hemoglobinas Anormais/genética , Sequência de Bases , Primers do DNA , Feminino , Sangue Fetal , Hemoglobina Fetal/análise , Globinas/biossíntese , Globinas/genética , Hemoglobina E/análise , Hemoglobina H/análise , Hemoglobinas Anormais/análise , Humanos , Recém-Nascido , Masculino , Dados de Sequência Molecular , Mutação Puntual , Reação em Cadeia da Polimerase , Gravidez , Deleção de Sequência , Singapura
16.
Prenat Diagn ; 14(11): 1077-82, 1994 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-7877957

RESUMO

beta-Thalassaemia major patients have chronic anaemia and since 3-4 per cent of Singaporeans carry the beta-gene, prenatal diagnosis is essential. We evaluated the amplification refractory mutation system (ARMS) technique as a routine test for prenatal diagnosis of beta-major. Six mutations along the beta-gene were studied--41-42 (-TCTT), IVSII #654 (C-T), 17 beta (A-T), -28 TATA (A-G), IVSI #5 (G-C), and IVSI #1 (G-T). Our results indicate that prenatal diagnosis using these mutations can be offered to 90 per cent (35/39) of our Chinese couples and 54.6 per cent (12/22) of our Malay couples at risk. Confirmation of ARMS results was carried out using allele-specific oligonucleotide hybridization. Prenatal diagnosis using ARMS was successfully carried out in nine cases which included a set of triplets and twins. The triplets were diagnosed with the beta-trait carrying the 41-42 mutation. The couple with twins possessed the #654 mutation and one twin was diagnosed with the beta-trait and the other with #654 homozygosity. Genomic sequencing of the undefined mutations in the Chinese couples revealed rarer mutations at -29 and an ATG-AGG base substitution at the initiation codon for translation. In the Malay couples, genomic sequencing detected mutations at codon 15 (TGG-TAG) and codon 26 (GAG-AAG). We conclude that ARMS with its direct detection of amplified products by gel electrophoresis provides an accurate, rapid, and simpler method for our beta-thalassaemia prenatal diagnosis programme in Singapore.


Assuntos
Análise Mutacional de DNA , Diagnóstico Pré-Natal/métodos , Talassemia beta/diagnóstico , Autorradiografia , Eletroforese em Gel de Poliacrilamida , Feminino , Humanos , Recém-Nascido , Masculino , Reação em Cadeia da Polimerase , Singapura/epidemiologia , Talassemia beta/epidemiologia
17.
18.
Singapore Med J ; 35(1): 62-4, 1994 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-8009283

RESUMO

Patients on a moderate red cell transfusion programme have iron overload where the concentrations of the serum ferritin were inappropriate to increases in the transfusion load as a result of limitations of apoferritin synthesis and conversion of ferritin into haemosiderin. This study confirms the limitations for the use of estimations of the serum ferritin to evaluate the iron status in patients with expected high overload as would be seen in patients on many years of maintenance red cell transfusions in the absence of iron chelation therapy. Poor compliance, inadequate dosage of Desferal (deferoxamine), and the late initiation of iron chelation therapy were factors that were considered in the patients with failure of response to iron chelation.


Assuntos
Transfusão de Sangue , Ferritinas/sangue , Talassemia beta/sangue , Criança , Pré-Escolar , Feminino , Homozigoto , Humanos , Ferro/sangue , Masculino , Esplenectomia , Talassemia beta/genética , Talassemia beta/cirurgia
19.
J Paediatr Child Health ; 29(6): 461-3, 1993 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-8286165

RESUMO

Sixty-five beta-thalassaemia genes from 14 unrelated Chinese beta-thalassaemia major patients and 37 Chinese beta-carriers were analysed by allele-specific oligonucleotide (ASO) hybridization after DNA amplification by the polymerase chain reaction (PCR). Six mutations were studied and are represented by 49.2% of codon 41-42, 30.8% of IVSII #654, 6.2% of 17 beta, 3.1% of IVSI #5 (G-->C) and 1.5% of -28 TATA box. The complete mutations responsible for beta-thalassaemia major in 13 of our 14 affected families were identified. For these families prenatal diagnosis at 10 weeks gestation using DNA amplification and ASO hybridization will replace the globin chain biosynthesis technique at 19 weeks gestation. Using ASO analysis, our results indicate that 5 oligo-probes (41-42, II-#654, 17 beta, IVSI-#5 and -28) allow determination of beta-thalassaemia mutations in 59/65 (90.8%) of the Singaporean Chinese studied.


Assuntos
DNA/análise , Reação em Cadeia da Polimerase , Diagnóstico Pré-Natal/métodos , Talassemia beta/genética , Sequência de Bases , China/etnologia , Feminino , Humanos , Dados de Sequência Molecular , Hibridização de Ácido Nucleico , Sondas de Oligonucleotídeos , Gravidez , Singapura , Talassemia beta/diagnóstico
20.
Singapore Med J ; 34(6): 500-3, 1993 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-8153710

RESUMO

Patients with the Hb beta + [IVS 1-5 (G-->C)] clinically presented as beta-thalassaemia intermedia and remained asymptomatic in the absence of blood transfusions. With or without blood transfusions the patients were short and had moderate to marked thalassaemia facies. Children who received blood transfusions showed progressive iron loading with age. The serum ferritin and serum alanine transaminase levels were significantly raised in the patients who were given blood transfusions. In the presence of blood transfusions, and absence of adequate iron chelation therapy, splenectomy became an inevitable event at some stage of the disease because of increasing transfusing requirements.


Assuntos
Talassemia beta/genética , Talassemia beta/terapia , Adolescente , Adulto , Alanina Transaminase/sangue , Transfusão de Sangue , Criança , Pré-Escolar , Citosina , Índices de Eritrócitos , Eritrócitos Anormais/patologia , Feminino , Ferritinas/sangue , Guanina , Antígenos de Superfície da Hepatite B/sangue , Humanos , Quelantes de Ferro/uso terapêutico , Malásia , Masculino , Pessoa de Meia-Idade , Mutação/genética , Esplenectomia , Talassemia beta/sangue , Talassemia beta/tratamento farmacológico , Talassemia beta/cirurgia
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