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In H-mode tokamak plasmas, the plasma is sometimes ejected beyond the edge transport barrier. These events are known as edge localized modes (ELMs). ELMs cause a loss of energy and damage the vessel walls. Understanding the physics of ELMs, and by extension, how to detect and mitigate them, is an important challenge. In this paper, we focus on two diagnostic methods-deuterium-alpha (Dα) spectroscopy and Doppler backscattering (DBS). The former detects ELMs by measuring Balmer alpha emission, while the latter uses microwave radiation to probe the plasma. DBS has the advantages of having a higher temporal resolution and robustness to damage. These advantages of DBS diagnostic may be beneficial for future operational tokamaks, and thus, data processing techniques for DBS should be developed in preparation. In sight of this, we explore the training of neural networks to detect ELMs from DBS data, using Dα data as the ground truth. With shots found in the DIII-D database, the model is trained to classify each time step based on the occurrence of an ELM event. The results are promising. When tested on shots similar to those used for training, the model is capable of consistently achieving a high f1-score of 0.93. This score is a performance metric for imbalanced datasets that ranges between 0 and 1. We evaluate the performance of our neural network on a variety of ELMs in different high confinement regimes (grassy ELM, RMP mitigated, and wide-pedestal), finding broad applicability. Beyond ELMs, our work demonstrates the wider feasibility of applying neural networks to data from DBS diagnostic.
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BACKGROUND: The Aboriginal and Torres Strait Islander Health Curriculum Framework helps higher education providers to deliver safe and well-informed cultural humility education. However, there is currently a scarcity of evidence surrounding the efficacy and impact of cultural humility education. This study will use qualitative and quantitative research methods to evaluate learning outcomes from an Indigenous health educational webinar aimed at Australian medical students. METHODS: A pilot study was conducted following a group of Australian medical students who attended an educational Indigenous health (IH) culturally responsive webinar. Recruitment was conducted via the webinar hosts' social media pages. Quantitative methods involved sending one pre- and two post-webinar questionnaires to attendees. To assess participants' retention of information, one post-webinar survey was sent out immediately after the webinar and another three months after the webinar. These questionnaires were designed to reflect pre-determined learning objectives for the webinar. Qualitative methods involved a focus group discussion to identify common themes from participant feedback. RESULTS: Twenty-six participants were included in the final quantitative analysis. Most of the participants were clinical students between 18 and 24 years old who did not identify as Aboriginal and/or Torres Strait Islander. There was a significant increase (p = 0.007) between pre-intervention (M = 0.35, SD = 0.26) and post-webinar knowledge for the learning outcome exploring the links between health and education (M = 047, SD = 0.25). No results were obtained from the three months post-intervention questionnaire. The qualitative analysis synthesized feedback from three participants and identified presenter delivery style as an important mediator of webinar effectiveness. CONCLUSIONS: There was a significant increase in knowledge and understanding for the learning outcome that explored the links between health and education. We attribute this partly to the engaging and conversational delivery style of the webinar presenters. The importance of Indigenous facilitators that encourage reflective teaching should not be understated. Our results suggest that cultural humility webinars can have a positive impact on medical students' understanding of the Aboriginal and/or Torres Strait Islander health landscape. This pilot study warrants further research on a larger population.
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Asistencia Sanitaria Culturalmente Competente , Educación de Pregrado en Medicina , Estudiantes de Medicina , Adolescente , Adulto , Humanos , Adulto Joven , Australia , Aborigenas Australianos e Isleños del Estrecho de Torres , Proyectos Piloto , Facultades de Medicina , Educación de Pregrado en Medicina/métodosRESUMEN
Partial tandem duplication of MLL (MLL-PTD) characterizes acute myeloid leukemia (AML) patients often with a poor prognosis. To understand the order of occurrence of MLL-PTD in relation to other major AML mutations and to identify novel mutations that may be present in this unique AML molecular subtype, exome and targeted sequencing was performed on 85 MLL-PTD AML samples using HiSeq-2000. Genes involved in the cohesin complex (STAG2), a splicing factor (U2AF1) and a poorly studied gene, MGA were recurrently mutated, whereas NPM1, one of the most frequently mutated AML gene, was not mutated in MLL-PTD patients. Interestingly, clonality analysis suggests that IDH2/1, DNMT3A, U2AF1 and TET2 mutations are clonal and occur early, and MLL-PTD likely arises after these initial mutations. Conversely, proliferative mutations (FLT3, RAS), typically appear later, are largely subclonal and tend to be unstable. This study provides important insights for understanding the relative importance of different mutations for defining a targeted therapeutic strategy for MLL-PTD AML patients.
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N-Metiltransferasa de Histona-Lisina/genética , Leucemia Mieloide Aguda/genética , Mutación , Proteína de la Leucemia Mieloide-Linfoide/genética , Proliferación Celular/genética , Células Clonales , Exoma , Humanos , Tasa de Mutación , Nucleofosmina , Secuencias Repetidas en Tándem , Factores de TiempoRESUMEN
INTRODUCTION: Children who develop any hypersensitivity reaction to eggs are routinely referred to hospital for Measles-Mumps-Rubella (MMR) vaccination as inpatients to prevent anaphylaxis. We aimed to study the association between hypersensitivity reactions after egg exposure and similar reactions after MMR immunisation; and examine the necessity of hospital admission for vaccination. METHODS: A prospective observational study was conducted in Paediatric Department in Bukit Mertajam Hospital, Penang, between March and December 2014. Children referred from local polyclinics for inpatient MMR vaccination because of a history of egg allergy were recruited. The children were observed in the ward for post vaccination allergic reactions. Concurrently, a group of children without egg allergy was recruited from those admitted for other illnesses but had recent MMR vaccination at polyclinics. Parents of these children were interviewed and asked if they had observed any reactions post vaccination. In both groups, sociodemographics, medical history and family history of atopy were collected. RESULTS: Eighty-seven subjects were recruited in this study. Fifty-four infants with egg allergy had previous mild allergic reactions after exposure to eggs or egg-related products. They were associated with a family history of egg hypersensitivity, personal history of acute gastroenteritis and upper respiratory tract infections. Two of them developed cutaneous rashes post vaccination during observation, but none developed anaphylactic or anaphylactoid reactions. Two infants among those without egg allergy had post vaccination fever. There was no association between egg allergy and hypersensitivity reactions to MMR vaccine (p=0.632). CONCLUSIONS: MMR vaccine can be safely administered to children with mild egg allergy, hence admission for vaccination in the hospital is not warranted. Risk stratification is required to ensure only infants with severe reactions will be admitted for vaccination.
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Hipersensibilidad al Huevo , Pacientes Internos , Vacuna contra el Sarampión-Parotiditis-Rubéola , Niño , Humanos , Lactante , Estudios Prospectivos , VacunaciónRESUMEN
BACKGROUND: Host germline variations and their potential prognostic importance is an emerging area of interest in paediatric ALL. METHODS: We investigated the associations between 20 germline variations and various clinical end points in 463 children with ALL. RESULTS: After adjusting for known prognostic factors, variants in two genes were found to be independently associated with poorer EFS: ABCB1 T/T at either 2677 (rs2032582) or 3435 (rs1045642) position (P=0.003) and IL15 67276493G/G (rs17015014; P=0.022). These variants showed a strong additive effect affecting outcome (P<0.001), whereby patients with both risk genotypes had the worst EFS (P=0.001), even after adjusting for MRD levels at the end of remission induction. The adverse effect of ABCB1 T/T genotypes was most pronounced in patients with favourable cytogenetics (P=0.011) while the IL15 67276493G/G genotype mainly affected patients without common chromosomal abnormalities (P=0.022). In both cytogenetic subgroups, increasing number of such risk genotypes still predicted worsening outcome (P<0.001 and=0.009, respectively). CONCLUSION: These results point to the prognostic importance of host genetic variants, although the specific mechanisms remain unclarified. Inclusion of ABCB1 and IL15 variants may help improve risk assignment strategies in paediatric ALL.
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Miembro 1 de la Subfamilia B de Casetes de Unión a ATP/genética , Interleucina-15/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Subfamilia B de Transportador de Casetes de Unión a ATP , Niño , Preescolar , Femenino , Genotipo , Humanos , Lactante , Desequilibrio de Ligamiento , Masculino , Polimorfismo de Nucleótido Simple , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamiento farmacológico , Pronóstico , Resultado del TratamientoAsunto(s)
Antivirales/administración & dosificación , Trasplante de Médula Ósea , Retinitis por Citomegalovirus/tratamiento farmacológico , Ganciclovir/administración & dosificación , Adolescente , Preparaciones de Acción Retardada , Implantes de Medicamentos , Femenino , Humanos , Profilaxis Posexposición/métodos , Resultado del TratamientoRESUMEN
BACKGROUND: A sudden increase in invasive infections caused by Bacillus cereus group organisms prompted an investigation at the National University Hospital in Singapore. AIM: To describe the investigation and management and subsequent difficulties controlling the outbreak. METHODS: Clinical case reviews were performed on all patients with B. cereus group recovered from clinical samples. Widespread environmental sampling was performed followed by review of hospital ventilation systems, domestic cleaning and laundry practices. FINDINGS: B. cereus was recovered from 171 patients during a six-month period coinciding with large-scale construction work beside the hospital. Most patients presented with bacteraemia (146/171; 85.4%) with 46/171 (26.9%) requiring extended treatment courses with vancomycin or other interventions. Sampling confirmed extensive airborne dispersal inside the hospital, including isolation rooms and air-conditioned wards. Hospital linen was heavily contaminated [7403 cfu/cm(2); 95% confidence interval (CI): 6349-8457; for 30 towels sampled], encouraged by inappropriate storage in airtight plastic bags (4437 cfu/cm(2); CI: 3125-5750) compared with storage in porous canvas bags (166 cfu/cm(2); CI: 76-256; P < 0.001). Interventions introduced included revision of laundry practices, transport and storage of hospital linen and towels; bleach-based environmental cleaning; and upgrading of ventilation systems throughout the hospital. Clinical case numbers returned to baseline levels within three months, only to rise again following relaxation of laundry practices. CONCLUSIONS: Construction work beside this Singapore hospital encouraged heavy contamination of air and environment with Bacillus spp., assumed to be responsible for the outbreak described. Failure to maintain revised laundry practices allowed resurgence of clinical cases, particularly among immunocompromised patients.
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Bacillus cereus/aislamiento & purificación , Infección Hospitalaria/epidemiología , Brotes de Enfermedades , Infecciones por Bacterias Grampositivas/epidemiología , Arquitectura y Construcción de Hospitales , Servicio de Lavandería en Hospital , Antibacterianos/uso terapéutico , Infección Hospitalaria/microbiología , Microbiología Ambiental , Infecciones por Bacterias Grampositivas/microbiología , Hospitales Universitarios , Humanos , Singapur/epidemiología , Vancomicina/uso terapéuticoRESUMEN
Twenty-one novel human leukocyte antigen (HLA) class I and class II alleles are described: seven HLA-A alleles, five HLA-C alleles, five HLA-B alleles and four HLA-DRB1 alleles. Seventeen (â¼81%) of the 21 novel alleles are single nucleotide substitution variants when compared with their most homologous allele. Nine of these single nucleotide variants cause an amino acid substitution, while eight are silent substitutions. The remaining novel alleles differ from their most similar allele by two to three nucleotide substitutions. One novel HLA-C locus allele encodes an amino acid change at codon 10 that previously has not been reported to be polymorphic for this locus. Some of the new alleles encode novel codons and unique amino acid changes at polymorphic positions in the HLA-A (codons 24 and 156) and HLA-B (codons 40 and 115) loci.
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Alelos , Antígenos HLA-A/genética , Antígenos HLA-B/genética , Antígenos HLA-C/genética , Cadenas HLA-DRB1/genética , Sistema de Registros , Sustitución de Aminoácidos , Femenino , Sitios Genéticos/fisiología , Prueba de Histocompatibilidad/métodos , Humanos , Masculino , Mutación MissenseRESUMEN
INTRODUCTION: Childhood leukaemia accounts for more than 40% of new childhood cancer cases. Karyotyping of cytogenetic abnormalities in such cases continues to provide critical prognostic information which allows the delivery of an appropriate intensity of treatment. Unfortunately, karyotyping of childhood leukaemia is difficult, laborious and often unsuccessful. Banding resolution tends to be poor unlike routine antenatal cytogenetics. The aim of the study is to highlight the benefit of dedicated cytogenetics in improving karyotyping results. MATERIALS AND METHODS: We analysed the impact of setting up a team of cytogeneticists in the National University Hospital (NUH) on the success of karyotyping, evaluating cytogenetic data collected from 1989 to 2006. From 1989 to 2006, 4789 cases have been processed. Among them, 369 newly diagnosed and relapsed childhood acute leukaemia cases [281 acute lymphoblastic leukaemia (ALL) and 88 acute myeloid leukaemia (AML)] have been diagnosed at NUH. A dedicated cytogenetics laboratory with clearly defined standard operating procedures and quality control was set up in 2002. It used the established recommendation of a complete analysis of at least 20 metaphases per analysis. RESULTS: Overall, the frequency of successful karyotyping was significantly higher (P = 0.002) at 90.7% (185/204) from 2002-2006 compared to 79.4% (131/165) from 1989-2001. For ALL cases, the success rate improved from 77.6% (97/125) in 1989 to 2001 to 89.1% (139/156) in the 2002 to 2006 cohort. For AML, the success rate also was significantly improved (P = 0.04) from 85% (34/40) to 95.8% (46/48). Significantly, this high rate of success is still maintained despite a yearly increase in volume. CONCLUSION: The establishment of a dedicated cytogenetics service leads to an improvement in results.
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Análisis Citogenético/métodos , Leucemia Mieloide Aguda/diagnóstico , Leucemia Mieloide Aguda/genética , Adolescente , Niño , Preescolar , Aberraciones Cromosómicas , Humanos , Lactante , Recién Nacido , Cariotipificación/métodos , Laboratorios , Singapur , UniversidadesRESUMEN
Six novel alleles, three human leukocyte antigen (HLA)-B and three HLA-DRB1 alleles, are described. Five of the variants are single nucleotide substitutions from their most homologous allele, of which three result in amino acid changes (B*3572, *9509 and DRB1*1157) and two are silent substitutions (B*370103 and DRB1*150204). DRB1*0462 differs by three nucleotide substitutions that alter two amino acids.
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Antígenos HLA-B/genética , Antígenos HLA-DR/genética , Alelos , Secuencia de Aminoácidos , Sustitución de Aminoácidos , Cadenas HLA-DRB1 , Humanos , Datos de Secuencia Molecular , SingapurRESUMEN
Malaysia is confronted with an increasing incidence of HIV and AIDS among adolescents and young adults. The effectiveness of various programs offered to school going teenagers is unknown. The objective of this study is to measure the effectiveness of two hours talk on sex education offered by a non governmental organization (NGO) in improving youngsters' knowledge and perception towards HIV and AIDS. A cross sectional study was conducted among the adolescent students from a secondary school in Ipoh, Perak, a province of Malaysia. A total of 182 students participated in the study. A standard questionnaire consisting of demographic data, knowledge and perception towards HIV/ADIS were distributed before (pre-test) and after the intervention (post-test). Performance of participants was compared to establish the effectiveness of the intervention. Our findings suggests that there was a significant increase in participants' knowledge and perception after the intervention (p = 0.000). Knowledge improvement was found in both genders however, improvement in perception was higher among female students. Interestingly, 80% of participants disagree that sexual education will encourage sex among youngsters. NGOs are playing a supplementary role in providing sex education programs in schools. This program although of short duration but it is effective in enhancing adolescence awareness about HIV/AIDS.
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Síndrome de Inmunodeficiencia Adquirida/prevención & control , Infecciones por VIH/prevención & control , Conocimiento , Educación Sexual , Adolescente , Adulto , Estudios Transversales , Femenino , Humanos , Masculino , PercepciónRESUMEN
Based on unusual probe hybridization patterns, two human leukocyte antigen (HLA)-A, five HLA-B, and two HLA-C alleles (A*240208, A*3211Q; B*1822, B*3938Q, B*4606, B*4607N, B*5139; Cw*0321, Cw*0734) were identified in individuals from the Singapore Bone Marrow Donor Program and Singapore Cord Blood Bank. Eight of the nine alleles encode amino acid substitutions altering the antigen-binding region including three alleles with changes altering a cysteine at codon 164 (A*3211Q, B*3938Q, B*4607N). This substitution either eliminates a key disulfide bond or results in a stop codon, both likely affecting the expression of the HLA molecules. Only one allele (A*240208) carries a synonymous substitution.
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Alelos , Antígenos HLA/genética , Antígenos de Histocompatibilidad Clase I/genética , Bancos de Muestras Biológicas , Exones , Humanos , Sistema de Registros , Singapur , Trasplante de Células Madre , Donantes de TejidosRESUMEN
DNA technology provides a new avenue to perform neonatal screening tests for single-gene diseases in populations of high frequency. Thalassemia is one of the high-frequency single-gene disorders affecting Singapore and many countries in the malaria belt. The authors explored the feasibility of using PCR-based diagnostic screening on 1,116 unselected sequential cord blood samples for neonatal screening. The cord blood samples were screened for the most common reported alpha- and beta-thalassemia mutations in each ethnic group (Chinese, Malays, and Indians) in a multiracial population. The carrier frequency for alpha-thalassemia mutations was about 6.4% in the Chinese (alpha deletions = 3.9%, alpha deletions = 2.5%), 4.8% in Malays, and 5.2% in Indians. Only alpha deletions were observed in the Chinese. The carrier frequency for beta-thalassemia mutations was 2.7% in the Chinese, 6.3% in Malays, and 0.7% in Indians. Extrapolating to the population distribution of Singapore, the authors found a higher overall expected carrier frequency for alpha- and beta-thalassemia mutations of 9% compared with a previous population study of 6% by phenotype. The highly accurate results make this molecular epidemiologic screening an ideal method to screen for and prevent severe thalassemia in high-risk populations.