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1.
J Synchrotron Radiat ; 29(Pt 3): 595-601, 2022 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-35510992

RESUMO

X-ray free-electron lasers (XFELs) deliver pulses of coherent X-rays on the femtosecond time scale, with potentially high repetition rates. While XFELs provide high peak intensities, both the intensity and the centroid of the beam fluctuate strongly on a pulse-to-pulse basis, motivating high-rate beam diagnostics that operate over a large dynamic range. The fast drift velocity, low X-ray absorption and high radiation tolerance properties of chemical vapour deposition diamonds make these crystals a promising candidate material for developing a fast (multi-GHz) pass-through diagnostic for the next generation of XFELs. A new approach to the design of a diamond sensor signal path is presented, along with associated characterization studies performed in the XPP endstation of the LINAC Coherent Light Source (LCLS) at SLAC. Qualitative charge collection profiles (collected charge versus time) are presented and compared with those from a commercially available detector. Quantitative results on the charge collection efficiency and signal collection times are presented over a range of approximately four orders of magnitude in the generated electron-hole plasma density.

2.
Int J Health Plann Manage ; 36(5): 1742-1757, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34089200

RESUMO

Gaza Strip is exposed to the danger of the novel coronavirus pandemic 'nCOVID-19' spread, which exacerbates the crises severity on this besieged area since 2007. This study aims to identify the preventive actions during the action effectiveness implemented by the Central Emergency Committee and the Ministry of Health to reduce the coronavirus spread in Gaza Strip. The researchers have followed the descriptive and the analytical methodology of the purposive sample responses data from the preventive medicine workers, the security team, and the members of the Central Emergency Committee.The most important results of the study showed that targeted peoples have been reexamined several times to ensure that they are recovered from the disease with an average of 81.0%. The reliability and accuracy of the detection tests of the coronavirus disease were of an average of 79.33%. In addition, the results demonstrate the existence of a strong correlation between the preventive action taken by the Central Emergency Committee and the effectiveness of the procedures to prevent the coronavirus pandemic. Also, the study shows a statistical significance effect at the level of significance (α ≤ 0.05) regarding the prevention procedures from the coronavirus pandemic and the effectiveness of the procedures.


Assuntos
COVID-19 , Serviços Médicos de Emergência , Pandemias , Humanos , Oriente Médio/epidemiologia , Pandemias/prevenção & controle , Reprodutibilidade dos Testes , SARS-CoV-2
3.
Protein Expr Purif ; 144: 12-18, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-29180019

RESUMO

A thorough characterisation of the genetics, physiology and metabolism of Escherichia coli has led to the availability of a large number of strains and vectors suitable for recombinant protein expression. Despite the relative ease in using E. coli for achieving amplified expression of many recombinant proteins, for some proteins this can be a frustrating and time-consuming process leading to very low expression or no expression at all. This is especially true for membrane proteins, which introduce additional challenges. A number of factors can be considered and optimised for achieving required levels of amplified expression of recombinant proteins in E. coli that are broadly classified as host strain, expression vector and growth conditions. In this paper we summarise these factors and consolidate the common challenges encountered and approaches to overcome them, focusing in particular on cases where there is low amplified expression or no expression at all of the desired recombinant protein, due to various reasons.


Assuntos
Clonagem Molecular/métodos , Escherichia coli/genética , Proteínas de Membrana/genética , Proteínas Recombinantes/genética
4.
Cell Tissue Bank ; 15(4): 619-26, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-24633432

RESUMO

The purpose of this study was to compare the use of autologous fibrin to human amniotic membrane (HAM) as a scaffold in cultivating autologous conjunctiva for transplantation in treatment of conjunctival defect. An experimental study was performed using 18 adult New Zealand white strain rabbits which were divided into 3 groups. Each group consists of 6 rabbits. The conjunctiva on the temporal site was excised to create a conjunctival epithelial defect. The excised area in the Group 1 was transplanted with autologous conjunctiva cultivated on autologous fibrin; Group 2 was transplanted with autologous conjunctiva cultivated on HAM and Group 3 was left bare. The rabbits were followed up at regular intervals until 6 weeks. The mean period of complete conjunctival epithelization was 11.50 ± 8.22 days for the autologous fibrin group, 15.33 ± 11.80 days for the HAM group and 25.33 ± 5.32 days in the bare sclera group. The epithelization rate for the autologous fibrin group was faster compared to the other two groups. However all the results were not statistically significant (p value >0.05). There were no postoperative complications noted during the follow up. Autologous fibrin is comparable to HAM as a scaffold for cultivation of conjunctiva in the treatment of conjunctival defect.


Assuntos
Autoenxertos , Túnica Conjuntiva/transplante , Doenças da Túnica Conjuntiva/cirurgia , Fibrina , Engenharia Tecidual/métodos , Alicerces Teciduais , Âmnio , Animais , Proliferação de Células , Túnica Conjuntiva/citologia , Modelos Animais de Doenças , Células Epiteliais/citologia , Rejeição de Enxerto/prevenção & controle , Técnicas In Vitro , Coelhos , Técnicas de Cultura de Tecidos
5.
Rev Sci Instrum ; 95(6)2024 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-38934713

RESUMO

Needs arising at both current and future accelerator facilities call for the development of radiation-hardened position-sensing diagnostics that can operate with multi-GHz repetition rates. Such instruments are likely to also have applications in the diagnosis of rapid plasma behavior. Building on the recent work of our Advanced Accelerator Diagnostics Collaboration, we are exploring the development of integrated multi-GHz ionizing particle detection systems based on chemical-vapor deposition diamond sensors, with the initial goal of producing a quadrant detector that can determine the intensity and centroid position of a particle beam at a repetition rate between 5 and 10 GHz. Results from our initial high-speed characterization work are presented, including those from a single-channel sensor with a GHz response. Approaches to achieving multi-GHz (5-10 GHz) rate capability, including the design of a dedicated Application Specific Integrated Circuit and the use of 3D RF-solver computer aided design software, are presented and discussed in more detail. 3D RF simulations suggest clean pulses of duration less than 250 ps (FWHM less than 125 ps) can be achieved with the approaches developed by this work.

6.
Med J Malaysia ; 68(4): 374-5, 2013 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-24145275

RESUMO

Primary cardiac tumours in the foetuses and neonates are uncommon. Foetuses with cardiac tumour have risk for heart failure and hydrops fetalis. Therefore, an early decision for delivery should be made in the evidence of foetal compromise. Early neonatal care varies on tumour size, type, location and obstructive features. Antenatal detection of foetal cardiac tumours ensures better prenatal and postnatal management. We describe our 5- year experience in managing 5 cases of primary cardiac tumours from 1st January 2006 to 31st December 2010.


Assuntos
Neoplasias Cardíacas , Hidropisia Fetal , Gerenciamento Clínico , Feminino , Humanos , Gravidez , Estudos Retrospectivos , Ultrassonografia Pré-Natal
7.
J Emerg Manag ; 21(5): 453-467, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37932947

RESUMO

This case study aimed at assessing the impact of the May 2021 War on medical personnel who worked during the coronavirus pandemic. This study was conducted at the Indonesian Hospital in the northern Gaza Strip. This case study included a sample of 391 participants. Of these participants, 100 employees of the Indonesian Hospital were selected randomly. The results revealed that the war has affected social distancing practices and adherence to health guidelines related to the pandemic, an impossible luxury to a large degree, with a mean rate of 4.54. There was a sharp shortage of medical supplies and medicines that have been affected by the war, which in turn affected the treatment of patients with coronavirus with a mean rate of 4.54. In addition, the medical staff faced mild exposure to gases due to military actions, with a mean rate of 3.78. This study recommended that vulnerable countries should be protected under the International Humanitarian Law and be given the necessity of respecting and protecting healthcare. In addition, the denial of medical treatment may be considered cruel or inhumane behavior and an affront to human dignity, constituting war crimes as grave breaches of the Geneva Conventions.


Assuntos
Árabes , COVID-19 , Humanos , Indonésia , Oriente Médio , Hospitais
8.
J Emerg Manag ; 18(7): 127-139, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34723354

RESUMO

This study aimed to analyze the risks that affect the Umm al-Nasr village (north of Gaza Strip), which include wars, floods, and the Corona virus disease-19 (COVID-19) pandemic, which may require the emergency committee to identify places for sanitary isolation in the case of infection or provide shelters in the disasters such as wars and floods. A plan that contains procedures for managing the displacement of the citizens according to the type of the disaster and the suggested safe shelters were prepared. Individuals infected with COVID-19 are isolated in central places or their home. Responding procedures for the emergency committee in Umm al-Nasr municipality were prepared to deal with displaced people. A mathematical model was designed to simulate choosing a shelter for the citizens of this village depending on the type of crisis. The results showed the different conditions that may affect the displacement operation, such as the type of shelter, the allocated area, the number of displaced citizens, the type of disaster, and the required speed to reach the shelter. This study recommended advancing the capabilities of the community to confront risks and COVID-19. Besides, perfect planning plays a significant role in saving lives, time, and effort. Therefore, it is needed to cooperate with the local authorities, such as municipalities, ministry of health, civil defense, and international institutions to implement a response action during disasters, and the necessity of closing residential areas and isolating them if new cases of COVID-19 appear.


Assuntos
COVID-19 , Planejamento em Desastres , Humanos , Oriente Médio , Quarentena , SARS-CoV-2
9.
J Emerg Manag ; 18(4): 311-322, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32804399

RESUMO

The aim of this study is to establish procedures to protect the residents of the Umm al-Nasr border village from the dangers of wars and military violations by preparing emergency management procedures for emergency per-sonnel to protect the population and properties, as well as designing a model that simulates the Emergency Opera-tions Department in the northern Gaza Strip. In addition, a mathematical equation was designed to calculate the strength of the true steadfastness of the society to defend the community in the event of war. The researchers used the analytical descriptive approach and the interview with the officials in the municipality of the village. The most important results of this study were the preparation of the risk matrix for the village of Umm al-Nasr by identifying the risks and analyzing them, determining the consequences and probability of each disaster threatening the village, designing a model showing the emergency operations and the effective institutions, and how to link the operations and coordination between the central chamber and the emergency committee besides the working institutions. In the field of relief, rescue and shelter as well as preparing preparedness and response measures in the event of war threatening the village. This study recommended the proper planning of the emergency management through the preparation of effective preparedness measures that seek to preserve life and property, and to protect the fragile communities in the Gaza Strip, especially the community of Umm al-Nasr to strengthen its steadfastness in the economic, environmental, and health sectors.


Assuntos
Conflitos Armados , Planejamento em Desastres , Desastres , Emergências , Árabes , Humanos
10.
Innov Pharm ; 10(4)2019.
Artigo em Inglês | MEDLINE | ID: mdl-34007579

RESUMO

OBJECTIVES: This study was aimed to determine (1) the associations between adherence to warfarin, social support, perception of illness, and demographic factors on the quality of international normalized ratios (INRs); as well as (2) the relationship between the patients' scores in the Malaysian medication adherence scale (MALMAS) and their current INRs. METHOD: This cross-sectional survey was conducted from November 2017 to January 2018 at the warfarin clinic of Jerantut Hospital, Malaysia. RESULTS: Some 58 participants were recruited, of whom 70.7% were diagnosed with atrial fibrillation (AF). Overall, 87.9% of the participants claimed adherence to their warfarin regimens. Patients with good-quality INR therapy were significantly older, had a higher median income and longer appointment durations. In terms of illness perception (IP), participants with good-quality INR therapyhad significantly lower scores in the identity, personal control, and consequence domains. Overall, the total scores for IP were significantly lower in the good-quality INR therapy. Meanwhile, the MALMAS scores were significantly lower in patients with sub-therapeutic current INR. However, there were no associations between warfarin adherence and perceived social support with current TTR. CONCLUSION: Monitoring of demographic factors and IP's domains is vital since they were associated with quality of INR therapy. Meanwhile, the occurrence of sub-therapeutic current INR should raise suspicion of poor adherence in these patients. Overall, IP and MALMAS are useful tools that should be integrated into the patient care protocols.

11.
Med J Malaysia ; 63 Suppl A: 111-2, 2008 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-19025010

RESUMO

This study was conducted to explore the feasibility of culturing conjunctiva epithelial cells in serum-free and feeder layer-free culture system with regard to the cell morphology and immunocytochemistry of the rabbit bulbar, fornix and palpebral conjunctiva epithelia. The results showed that epithelium cells from all the three conjunctiva regions can be cultured in a serum-free and feeder layer-free environment. We obtained highest epithelial growth from fornix region with minimum invasion of fibroblast cells compared to other area. All cultured cells were stained positive for cytokeratin 19 and MUC5AC and negative for cytokeratin 3. These findings suggested that fornix was a better source of cells for the development of tissue engineered conjunctiva for future clinical application.


Assuntos
Túnica Conjuntiva/citologia , Doenças da Córnea/cirurgia , Epitélio Corneano/citologia , Animais , Células Cultivadas , Túnica Conjuntiva/crescimento & desenvolvimento , Túnica Conjuntiva/fisiologia , Epitélio Corneano/fisiologia , Epitélio Corneano/transplante , Queratinas , Modelos Animais , Coelhos , Engenharia Tecidual
12.
Saudi J Kidney Dis Transpl ; 29(4): 828-836, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30152419

RESUMO

Studies among hemodialysis (HD) patients have looked into relationships between illness perception (IP), depression, and adherence yet rarely looked further into medication factors. Those studies were also conducted at urban HD centers leaving out those from a smaller town. Our objective is to determine phosphate binders (PBs) influences on IP and depression among HD population in smaller town. One hundred and thirteen patients from three Central Pahang Cluster Hospitals, Malaysia on HD were interviewed using Malay version of the Brief IP Questionnaire and Beck Depression Inventory II (BDI-II). This study found a significant positive correlation between PBs daily dose frequency with consequence, timeline, and illness concern. Type of PBs used influenced personal control significantly. History of PBs side effects resulted in significantly lower treatment control and lower emotional representation. There was a significant negative relationship between dialysis vintage with both identity and IP score. Depressed patients had significantly higher emotional representation compared to healthy controls. Meanwhile, there was a positive correlation between BDI-II score with coherence, consequence, and emotional representation. Around 23.9% of the patients reported symptoms of depression. Depressed patients had significantly shorter dialysis vintage compared to healthy controls. They tended to report a significant history of hospital admission in the past six months that peaked among those on HD between four to six years. The current study showed the effect of PBs therapy on IP while depression was associated with HD duration and hospital admission. This information can be used to formulate a better treatment approach by health-care practitioners toward better patients treatment hence outcomes.


Assuntos
Quelantes , Depressão , Falência Renal Crônica , Diálise Renal , Adulto , Idoso , Quelantes/efeitos adversos , Quelantes/uso terapêutico , Estudos Transversais , Depressão/complicações , Depressão/epidemiologia , Depressão/etiologia , Depressão/psicologia , Feminino , Humanos , Falência Renal Crônica/complicações , Falência Renal Crônica/epidemiologia , Falência Renal Crônica/psicologia , Falência Renal Crônica/terapia , Malásia , Masculino , Pessoa de Meia-Idade , Fosfatos/metabolismo , Diálise Renal/efeitos adversos , Diálise Renal/psicologia , Diálise Renal/estatística & dados numéricos , Inquéritos e Questionários
13.
Trop Biomed ; 35(2): 586-592, 2018 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-33601834

RESUMO

Rodents are ubiquitous zoonotic vectors for many human pathogens including Blastocystis sp. In this study, we examined the prevalence and subtypes of Blastocystis sp. in rodents captured from Peninsular Malaysia. A total of 293 rodents predominantly brown rat (Rattus norvegicus) (290 of 293, 99.0%) and house shrew (Suncus murinus) (3 of 293, 1.0 %), were captured in the vicinity of popular eateries in two cities (Kuala Lumpur and Ipoh) in Peninsular Malaysia. In vitro cultivation method showed presence of Blastocystis sp. in approximately half (133 of 290, 45.9%) of the brown rats tested. Among the 47 Blastocystis isolates subtyped using partial small subunit ribosomal RNA gene analysis, ST4 was the most abundant (43 of 47, 91.5%) followed by ST1 (2 of 47, 4.3%), ST5 (1 of 47, 2.1%) and ST7 (1 of 47, 2.1%). Our findings highlighted the importance of rodents as a source of Blastocystis sp. infection in Malaysia and showed the high prevalence of ST4 within the rodent population infected with Blastocystis sp.

14.
Ultrason Sonochem ; 38: 478-487, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28633850

RESUMO

ZnO NPs were prepared and deposited onto cotton fibers via ultrasound irradiation successfully. Different surfactants (SDS, HY, CTAB, TX-100) have been used to stabilize, homogenize the coated ZnO NPs and control their shape and size as encapsulated species. The use of surfactants has improved the durability of ZnO NPs and decreased its leaching in particular SDS. The small mean crystallite size for ZnO particles due to the use of surfactants is the main reason for decreasing the leached of ZnO particles from cotton substrate. SEM and XRD analysis revealed information about the shape and size of the coated ZnO nanoparticles. The use of SDS and HY surfactants in the synthesis of ZnO NPs coated fabrics showed the highest antibacterial and antifungal activities against different pathogenic bacterial and fungal species with high reduction reached over 90%.


Assuntos
Anti-Infecciosos/química , Anti-Infecciosos/farmacologia , Fibra de Algodão , Nanopartículas/química , Tensoativos/química , Óxido de Zinco/química , Óxido de Zinco/farmacologia , Bactérias/efeitos dos fármacos , Estabilidade de Medicamentos , Fungos/efeitos dos fármacos , Propriedades de Superfície
15.
Australas Phys Eng Sci Med ; 29(3): 278-80, 2006 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-17058591

RESUMO

Illuminance level in the softcopy image viewing room is a very important factor to optimize productivity in radiological diagnosis. In today's radiological environment, the illuminance measurements are normally done during the quality control procedure and performed annually. Although the room is equipped with dimmer switches, radiologists are not able to decide the level of illuminance according to the standards. The aim of this study is to develop a simple real-time illuminance detector system to assist the radiologists in deciding an adequate illuminance level during radiological image viewing. The system indicates illuminance in a very simple visual form by using light emitting diodes. By employing the device in the viewing room, illuminance level can be monitored and adjusted effectively.


Assuntos
Monitoramento Ambiental/instrumentação , Iluminação/instrumentação , Fotometria/instrumentação , Radiologia/instrumentação , Transdutores , Monitoramento Ambiental/métodos , Desenho de Equipamento , Análise de Falha de Equipamento , Fotometria/métodos , Radiologia/métodos
16.
PLoS One ; 10(6): e0128973, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26107378

RESUMO

PURPOSE: To investigate the safety and efficacy of subretinal injection of human Wharton's Jelly-derived mesenchymal stem cells (hWJ-MSCs) on retinal structure and function in Royal College of Surgeons (RCS) rats. METHODS: RCS rats were divided into 2 groups: hWJ-MSCs treated group (n = 8) and placebo control group (n = 8). In the treatment group, hWJ-MSCs from healthy donors were injected into the subretinal space in one eye of each rat at day 21. Control group received saline injection of the same volume. Additional 3 animals were injected with nanogold-labelled stem cells for in vivo tracking of cells localisation using a micro-computed tomography (microCT). Retinal function was assessed by electroretinography (ERG) 3 days before the injection and repeated at days 15, 30 and 70 after the injection. Eyes were collected at day 70 for histology, cellular and molecular studies. RESULTS: No retinal tumor formation was detected by histology during the study period. MicroCT scans showed that hWJ-MSCs stayed localised in the eye with no systemic migration. Transmission electron microscopy showed that nanogold-labelled cells were located within the subretinal space. Histology showed preservation of the outer nuclear layer (ONL) in the treated group but not in the control group. However, there were no significant differences in the ERG responses between the groups. Confocal microscopy showed evidence of hWJ-MSCs expressing markers for photoreceptor, Müller cells and bipolar cells. CONCLUSIONS: Subretinal injection of hWJ-MSCs delay the loss of the ONL in RCS rats. hWJ-MSCs appears to be safe and has potential to differentiate into retinal-like cells. The potential of this cell-based therapy for the treatment of retinal dystrophies warrants further studies.


Assuntos
Células-Tronco Mesenquimais/fisiologia , Retina/patologia , Degeneração Retiniana/terapia , Transplante de Células-Tronco , Animais , Biomarcadores/metabolismo , Eletrorretinografia , Expressão Gênica , Ouro/química , Humanos , Injeções Intraoculares , Células-Tronco Mesenquimais/citologia , Nanopartículas Metálicas/química , Ratos , Retina/metabolismo , Degeneração Retiniana/metabolismo , Degeneração Retiniana/patologia , Coloração e Rotulagem/métodos , Transplante Heterólogo , Geleia de Wharton/citologia , Geleia de Wharton/fisiologia , Microtomografia por Raio-X
17.
Med J Malaysia ; 56(4): 428-34, 2001 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-12014761

RESUMO

OBJECTIVES: A child's admission into intensive care is a major cause of stress for parents. However among Malaysian parents, data concerning the perception of stress are virtually absent. Therefore we conducted a study to measure the reliability of the Malay version of Parental Stressor Scale: Pediatric Intensive Care Unit (PSS: PICU) in identifying sources of stress and to study factors that might influence their stress response. METHODS: Over a six-month period, one hundred and twelve parents were requested to answer the questionnaires twice either in Malay or English, a week apart. Spearman's correlation and Cronbach's alpha coefficient was used to assess the repeatability and internal consistency of the questionnaires. RESULTS: Ninety-four (83.9%) and seventy-one (75.3%) parents responded to the first and second administration of questionnaire respectively. All answered in the Malay language except for three. The correlation ranged from 0.50 to 0.71 with a total score of 0.76. The Cronbach's alpha coefficient ranged from 0.75 to 0.93, with total a score of 0.95. Alteration in parental roles was the most stressful source of stress. Fathers, parents of children with higher PRISM score and parents with no previous admission into intensive care unit scored significantly higher in staffs communication. CONCLUSION: The Malay version of PSS: PICU is reliable in identifying sources of stress. Alteration in parental roles was the most stressful source of stress. Parents' gender, previous experience and severity of the child illness may influence their stress responses.


Assuntos
Criança Hospitalizada/psicologia , Estado Terminal/psicologia , Unidades de Terapia Intensiva Pediátrica , Pais/psicologia , Estresse Psicológico/diagnóstico , Estresse Psicológico/psicologia , Inquéritos e Questionários , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Reprodutibilidade dos Testes
18.
Environ Pollut ; 180: 221-8, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23792381

RESUMO

This study investigated potential ammonia impacts on a sand dune nature reserve 600 m upwind of an intensive poultry unit. Ammonia concentrations and total nitrogen deposition were measured over a calendar year. A series of ammonia and nitrogen exposure experiments using dune grassland species were conducted in controlled manipulations and in the field. Ammonia emissions from the intensive poultry unit were detected up to 2.8 km upwind, contributing to exceedance of critical levels of ammonia 800 m upwind and exceedance of critical loads of nitrogen 2.8 km upwind. Emissions contributed 30% of the total N load in parts of the upwind conservation site. In the nitrogen exposure experiments, plants showed elevated tissue nitrogen contents, and responded to ammonia concentrations and nitrogen deposition loads observed in the conservation site by increasing biomass. Estimated long-term impacts suggest an increase in the soil carbon pool of 9% over a 50-year timescale.


Assuntos
Poluentes Atmosféricos/análise , Amônia/análise , Monitoramento Ambiental , Aves Domésticas , Criação de Animais Domésticos , Animais
20.
Singapore Med J ; 49(12): 1046-9, 2008 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19122960

RESUMO

INTRODUCTION: Beta-thalassaemia major is an autosomal recessive disorder that results in severe microcytic, hypochromic, haemolytic anaemia among affected patients. Beta-thalassaemia has emerged as one of the most common public health problems in Malaysia, particularly among Malaysian Chinese and Malays. This study aimed to observe the spectrum of mutations found in Kelantan Malay beta-thalassaemia major patients who attended the Paediatrics Daycare Unit, Hospital Universiti Sains Malaysia, Kelantan, Malaysia, the data of which was being used in establishing the prenatal diagnosis in this Human Genome Centre. METHODS: This was a cross-sectional study conducted with 35 Kelantan Malay beta-thalassaemia major patients. DNA was extracted from the blood collected from the patients and subjected to polymerase chain reaction (PCR) amplification. Six restriction enzymes were used to digest the PCR products for the detection of mutations. RESULTS: Five out of the six beta-globin gene defects were detected, namely, IVS-1 nt5 (G>C), IVS-1 nt1 (G>T), codon 26 (G>A), codon 41-42 (4 bp del) and codon 19 (A>G). The mutation which was not observed in this study was in codon 15 (G>A). The two most common mutations observed were codon 26 (G>A) and IVS-1 nt5 (G>C), which was detected in 26 and 17 patients, respectively. Two patients did not show any of the six mutations. CONCLUSION: Our results added to the existing data on the common beta-globin gene defects in Kelantan Malay beta-thalassaemia patients.


Assuntos
Mutação , Globinas beta/genética , Talassemia beta/genética , Criança , Etnicidade , Humanos , Malásia/etnologia , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Talassemia beta/etnologia
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