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1.
Plant Dis ; 104(10): 2541-2550, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32762502

RESUMO

Tar spot of corn has been a major foliar disease in several Latin American countries since 1904. In 2015, tar spot was first documented in the United States and has led to significant yield losses of approximately 4.5 million t. Tar spot is caused by an obligate pathogen, Phyllachora maydis, and thus requires a living host to grow and reproduce. Due to its obligate nature, biological and epidemiological studies are limited and impact of disease in corn production has been understudied. Here we present the current literature and gaps in knowledge of tar spot of corn in the Americas, its etiology, distribution, impact and known management strategies as a resource for understanding the pathosystem. This will in tern guide current and future research and aid in the development of effective management strategies for this disease.


Assuntos
Doenças das Plantas , Zea mays , América , Estados Unidos
2.
Blood Adv ; 2(22): 3163-3176, 2018 11 27.
Artigo em Inglês | MEDLINE | ID: mdl-30478153

RESUMO

Long-lived antibody-secreting cells (ASCs) are critical for the maintenance of humoral immunity through the continued production of antibodies specific for previously encountered pathogen or vaccine antigens. Recent reports describing humoral immune memory have suggested the importance of long-lived CD19- bone marrow (BM) ASCs, which secrete antibodies recognizing previously encountered vaccine antigens. However, these reports do not agree upon the unique contribution of the CD19+ BM ASC subset toward humoral immunity. Here, we found both CD19+ and negative ASCs from human BM were similar in functional capacity to react to a number of vaccine antigens via ELISpot assays. The CD19+ cells were the predominant ASC population found in lymphoid tissues, and unlike the CD19- ASCs, which were found only in spleen and BM, the CD19+ ASCs were found in tonsil and blood. CD19+ ASCs from the BM, spleen, and tonsil were capable of recognizing polio vaccine antigens, indicating the CD19+ ASC cells play a novel role in long-lasting immune defense. Comparative gene expression analysis indicated CD19+ and negative BM ASCs differed significantly by only 14 distinct messenger RNAs and exhibited similar gene expression for cell cycle, autophagy, and apoptosis control necessary for long life. In addition, we show identical CDR-H3 sequences found on both BM ASC subsets, indicating a shared developmental path. Together, these results provide novel insight for the distribution, function, genetic regulation, and development of long-lived ASCs and may not only impact improved cell therapies but also enhance strategies for vaccine development.


Assuntos
Células Produtoras de Anticorpos/metabolismo , Antígenos CD19/metabolismo , Memória Imunológica , Células Produtoras de Anticorpos/citologia , Antígenos/imunologia , Células da Medula Óssea/citologia , ELISPOT , Regulação da Expressão Gênica , Humanos , Imunidade Humoral , Imunoglobulinas/análise , RNA Mensageiro/metabolismo , Baço/citologia , Vacinas Sintéticas/imunologia
3.
J Environ Qual ; 47(5): 1205-1213, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-30272783

RESUMO

Row crop and livestock production contaminate soils and groundwater of the karst aquifers within south-central Kentucky's Pennyroyal Plateau. Transport of atrazine from field application to the epikarstic drainage system beneath a field with active row-crop farming was investigated. The Crumps Cave study site is a shallow autogenic drainage system with a recharge area of ∼1 ha that contains two epikarst drains (WF-1 and WF-2) which were monitored for atrazine, deethylatrazine (DEA), and deisopropylatrazine (DIA) concentrations from January 2011 to May 2012. Atrazine concentrations in both drains did not increase above winter background levels for nearly 2 mo after application when levels suddenly spiked and reached peak concentrations for the study during an event in May 2011. Atrazine, DEA, and DIA were detected in 100% of samples, and metabolites accounted for 54 to 94% of the monthly total loads, except in May 2011. Median dealkylated metabolite/atrazine ratios (DMAR) were ∼5:1 at both sites, and seasonal DMAR patterns corresponded with changes in soil temperature. These data support the hypothesis that a combination of sorption and degradation in the soil column above the epikarst controlled the transport of atrazine and its metabolites. This resulted in delayed atrazine transport after application and prolonged transport of atrazine and its weakly sorbed metabolites to the epikarst aquifer. Management practices that reduce herbicide inputs, such as diverse crop rotations, cover crops, and use of low-rate and strong-sorbing herbicides, would improve groundwater quality in areas of the Corn Belt with intensive row cropping on karst topography.


Assuntos
Atrazina/análise , Monitoramento Ambiental , Herbicidas/análise , Poluentes Químicos da Água/análise , Água Subterrânea
4.
Artigo em Inglês | MEDLINE | ID: mdl-29844928

RESUMO

STUDY DESIGN: Global mapping project of ISCoS for traumatic spinal cord injury (T-SCI) highlighted paucity of data from low and middle income countries (LMICs). Recognizing this gap, IDAPP study of one year duration was proposed as the first step to develop an International SCI database. OBJECTIVES: Primary objective was to assess database variables, processes involved and web platform for their suitability with a view to provide guidance for a large scale global project. Secondary objective was to capture demographic and selected injury/safety data on patients with T-SCI with a view to formulate prevention strategies. SETTING: Nine centers from Asia. METHODS: All patients with T-SCI admitted for first time were included. International SCI Core Data Set and especially compiled Minimal Safety Data Set were used as data elements. Questionnaire was used for feedback from centers. RESULTS: Results showed relevance and appropriateness of processes, data variables and web platform of the study. Ease of entering and retrieval of data from web platform was confirmed. Cost of one year IDAPP study was USD 7780. 975 patients were enrolled. 790 (81%) were males. High falls (n = 513, 52%) as a cause and complete injuries (n = 547, 56%) were more common. There was a higher percentage of thoracic and lumbar injuries (n = 516, 53%). CONCLUSIONS: The study confirms that establishing the SCI database is possible using the variables, processes and web platform of the pilot study. It also provides a low cost solution. Expansion to other centers/regions and including non-traumatic SCI would be the next step forward.

5.
Br J Hosp Med (Lond) ; 78(11): 642-646, 2017 Nov 02.
Artigo em Inglês | MEDLINE | ID: mdl-29111790

RESUMO

Perioperative medicine is an emerging specialty aimed at improving outcomes in the high-risk surgical population. The authors set out to characterize the demographics and determine the motivation of 'early adopters' of this specialty by retrospectively reviewing the application forms of students enrolled on the UCL Perioperative Medicine Masters Programme. A total of 139 applications were reviewed. The median age of applicants was 35 years; 81% were UK based, with the remainder from a worldwide distribution. Seventeen per cent were consultant anaesthetists and 64% anaesthetic trainees, with the remainder including doctors from other specialties (17%) and nurses (2%). Qualitative analysis using grounded theory methodology revealed common motivational themes: the belief that perioperative medicine would lead to better patient care, that it represents the future working practice for anaesthetists, a desire to be able to better lead local developments, and personal fulfilment and benefit. The responses provided insight into the motivation of an international cohort of professionals. Perioperative medicine was perceived as a developing multidisciplinary specialty that will lead to better patient care. Applicants understood the importance of perioperative care extending beyond the operating theatre which may explain the growing demand for training in perioperative medicine.


Assuntos
Competência Clínica , Consultores , Educação de Pós-Graduação em Medicina/normas , Cirurgia Geral/educação , Pesquisas sobre Atenção à Saúde/métodos , Motivação , Assistência Perioperatória/educação , Adulto , Feminino , Cirurgia Geral/normas , Humanos , Masculino , Salas Cirúrgicas/normas , Reprodutibilidade dos Testes , Estudos Retrospectivos , Reino Unido
6.
Spinal Cord ; 55(7): 705-710, 2017 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-28290470

RESUMO

STUDY DESIGN: Descriptive study. OBJECTIVES: To describe the epidemiological features of spinal cord injury (SCI) following the 2015 earthquakes in Nepal. SETTING: Spinal Injury Rehabilitation Centre, Kavre, Nepal. METHODS: Data were collected from the medical records of all earthquake-related patients seen from 25 April 2015 through to 16 June 2016. Data collected included patient demographics, mechanism of injury, initial medical treatment, neurological assessment, complications, neurological/functional outcomes and length of stay. RESULTS: Data from 117 earthquake-related SCI patients were evaluated, with a female-to-male ratio of 1.3:1. In total, 108 patients (92%) sustained vertebral fracture and/or dislocation. Seventy-seven patients had undergone surgical fixation. The majority of patients (81%) presented with paraplegia, of whom most (60%) were incomplete. Thirty-eight (33%) patients had documented pressure ulcers upon admission; six (5%) patients developed new pressure ulcers during their rehabilitation stay. Urinary tract infection was seen in 34 (29%) patients. Seven (6%) patients were diagnosed with deep vein thrombosis. One patient developed clinically significant heterotopic ossification. Significant improvements were seen in patients' functional outcomes before discharge. Two deaths occurred in this patient population. CONCLUSIONS: The Nepal earthquakes resulted in a significant number of SCIs, the majority occurring in women. Incomplete paraplegia was the most common presentation. Pressure ulcer, the most frequent complication, primarily occurred before rehabilitation admission. Continued efforts focused on comprehensive planning, and preparedness for SCI-specific interdisciplinary care following earthquakes, particularly in resource-limited settings, is critical to ensuring survival, preventing complications and optimizing functional outcomes in this patient population.


Assuntos
Terremotos , Traumatismos da Medula Espinal/epidemiologia , Traumatismos da Medula Espinal/etiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Países em Desenvolvimento , Feminino , Humanos , Tempo de Internação , Masculino , Pessoa de Meia-Idade , Nepal/epidemiologia , Fatores Sexuais , Traumatismos da Medula Espinal/complicações , Traumatismos da Medula Espinal/reabilitação , Tempo para o Tratamento , Resultado do Tratamento , Adulto Jovem
7.
Plant Dis ; 101(2): 344-353, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30681926

RESUMO

Sclerotinia sclerotiorum population variability directly affects Sclerotinia stem rot (SSR) resistance breeding programs. In the north-central United States, however, soybean germplasm selection has often involved only a single isolate. Forty-four S. sclerotiorum isolates from Illinois, Michigan, Minnesota, Nebraska, Wisconsin, Poland, and across 11 different host species were evaluated for variation in isolate in vitro growth, in vitro oxalate production, and in planta aggressiveness on the susceptible soybean 'Williams 82'. Significant differences (P < 0.0001) were detected in isolate in planta aggressiveness, in vitro growth, and in vitro oxalate production. Furthermore, diverse isolate characteristics were observed within all hosts and locations of collection. Aggressiveness was not correlated to colony growth and was only weakly correlated (r = 0.26, P < 0.0001) to isolate oxalate production. In addition, the host or location of collection did not explain isolate aggressiveness. Isolate oxalic acid production, however, may be partially explained by the host (P < 0.05) and location (P < 0.01) of collection. Using a representative subset of nine S. sclerotiorum isolates and soybean genotypes exhibiting susceptible or resistant responses (determined using a single isolate), a significant interaction (P = 0.04) was detected between isolates and genotypes when SSR severity was evaluated. Our findings suggest that screening of S. sclerotiorum-resistant soybean germplasm should be performed with multiple isolates to account for the overall diversity of S. sclerotiorum isolates found throughout the soybean-growing regions of the United States.

8.
Rep Prog Phys ; 80(2): 026502, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-27991440

RESUMO

Charge transport simulation can be a valuable tool to better understand, optimise and design organic transistors (OTFTs), photovoltaics (OPVs), and light-emitting diodes (OLEDs). This review presents an overview of common charge transport and device models; namely drift-diffusion, master equation, mesoscale kinetic Monte Carlo and quantum chemical Monte Carlo, and a discussion of the relative merits of each. This is followed by a review of the application of these models as applied to charge transport in organic semiconductors and devices, highlighting in particular the insights made possible by modelling. The review concludes with an outlook for charge transport modelling in organic electronics.

9.
Sci Rep ; 6: 32197, 2016 08 25.
Artigo em Inglês | MEDLINE | ID: mdl-27558444

RESUMO

Evolution-in-materio concerns the computer controlled manipulation of material systems using external stimuli to train or evolve the material to perform a useful function. In this paper we demonstrate the evolution of a disordered composite material, using voltages as the external stimuli, into a form where a simple computational problem can be solved. The material consists of single-walled carbon nanotubes suspended in liquid crystal; the nanotubes act as a conductive network, with the liquid crystal providing a host medium to allow the conductive network to reorganise when voltages are applied. We show that the application of electric fields under computer control results in a significant change in the material morphology, favouring the solution to a classification task.

10.
Clin Radiol ; 70(11): 1276-80, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26350147

RESUMO

AIM: To demonstrate the benefits of fluoroscopy-guided intra-articular steroid injection in the hip with varying degrees of disease severity, and to investigate the financial aspects of the procedure and impact on waiting time. MATERIALS AND METHODS: A prospective study was undertaken of patients who underwent fluoroscopic intra-articular steroid injection over the 9-month study period. Comparative analysis of the Oxford hip pain score pre- and 6-8 weeks post-intra-articular injection was performed. Hip radiographs of all patients were categorised as normal, mild, moderate, or severe disease (four categories) based on the modified Kellgren-Lawrence severity scale, and improvement on the Oxford hip pain score on each of these four severity categories were assessed. RESULTS: Within the study cohort of 100 patients, the mean increase in post-procedure hip score of 7.32 points confirms statistically significant benefits of the therapy (p<0.001, 95% confidence interval: 5.55-9.09). There was no significant difference in pre-injection hip score or change in score between the four severity categories (p=0.51). Significant improvement in hip score (p<0.05) was demonstrated in each of the four severity categories 6-8 weeks post-injection. No associated complications were observed. CONCLUSION: The present study confirms that fluoroscopy-guided intra-articular steroid injection is a highly effective therapeutic measure for hip osteoarthritis across all grades of disease severity with significant cost savings and the potential to reduce waiting times.


Assuntos
Anti-Inflamatórios/administração & dosagem , Osteoartrite do Quadril/tratamento farmacológico , Esteroides/administração & dosagem , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Análise de Variância , Feminino , Fluoroscopia , Humanos , Injeções Intra-Articulares/métodos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Radiografia Intervencionista , Tempo para o Tratamento , Resultado do Tratamento , Adulto Jovem
11.
J Am Pharm Assoc (2003) ; 55(3): 269-72, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25816340

RESUMO

OBJECTIVE: To evaluate potential cost savings based on estimated cost avoidance from medication therapy management (MTM) services delivered in safety-net clinics over 4 years. METHODS: High-risk patients taking multiple medications and with chronic conditions were referred for MTM services in primary care safety-net clinics in Maryland from October 1, 2009, to September 30, 2013. Medication-related problems (MRPs) were identified and pharmacists' costs determined to evaluate the estimated cost savings and return on investment (ROI). A range of potential economic outcomes for each MRP identified was assigned to a cost avoidance for outpatient visit, urgent care visit, emergency department visit, and/or hospitalization. RESULTS: Over 4 years, 246 patients received MTM, nearly 2,100 medications were reviewed, and 814 MRPs were identified. The most common MRPs identified were subtherapeutic doses, nonadherence, and untreated indications, with respective prevalences of 38%, 19%, and 16%. The corresponding costs of medical services were estimated at $115,220-$614,570 for all MRPs identified, yielding a mean of $141.55-$755.00 per identified MRP. Pharmacists' expenses for encounters were calculated at a total expenditure of $57,307.50 for 16,965 minutes. ROI based on the time spent during billable face-to-face encounters ranged from 1:5 to 1:25. CONCLUSION: Pharmacist-provided MTM in safety-net clinics yielded potential economic benefits to the organization. The Primary Care Coalition of Montgomery County plans to expand MTM services to additional clinics to improve patient care and increase cost savings through preventable medical services.


Assuntos
Redução de Custos/economia , Custos de Cuidados de Saúde/estatística & dados numéricos , Conduta do Tratamento Medicamentoso/economia , Assistência Farmacêutica/economia , Atenção Primária à Saúde/economia , Humanos , Maryland
12.
Clin Radiol ; 68(10): e552-9, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23927964

RESUMO

Anterior cruciate ligament (ACL) injuries occur most commonly in individuals between 18 and 29 years of age and are strongly correlated with sporting activity, with female athletes being at higher risk of ACL rupture than their male counterparts. ACL reconstruction is one of the most frequently performed procedures in orthopaedic surgery, having a reported incidence of 85 per 100,000 head of population in the at-risk age group. Subsequent graft failure is most commonly caused by recurrent trauma, followed by tunnel malpositioning, although the choice of graft type does not appear to affect outcome. The Danish ACL registry reported that ACL revisions accounted for 7.5% of all ACL reconstruction surgery performed between 2005 and 2008. Revision of ACL reconstruction is recognized to carry a worse outcome than primary reconstruction. Preoperative imaging has become a crucial part of surgical planning in these patients, with great reliance placed on computed tomography (CT). The radiologist should be able to recognize the types of primary repair and must be able to assess for the complications of primary surgery, such as tunnel malpositioning, tunnel widening, and fixation device failure. Revision is commonly a two-stage procedure with bone grafting of the tunnels prior to the definitive ligament repair. The radiologist should be able to asses for adequate bone graft incorporation. The purpose of this article is to present a review of the use of CT in the management of ACL revision surgery with examples of commonly used fixation devices; complications, such as tunnel widening and tunnel malpositioning; and bone graft incorporation.


Assuntos
Reconstrução do Ligamento Cruzado Anterior , Complicações Pós-Operatórias/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Humanos , Reoperação
14.
Diabetologia ; 56(2): 298-310, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23160641

RESUMO

AIMS/HYPOTHESIS: Human complex metabolic traits are in part regulated by genetic determinants. Here we applied exome sequencing to identify novel associations of coding polymorphisms at minor allele frequencies (MAFs) >1% with common metabolic phenotypes. METHODS: The study comprised three stages. We performed medium-depth (8×) whole exome sequencing in 1,000 cases with type 2 diabetes, BMI >27.5 kg/m(2) and hypertension and in 1,000 controls (stage 1). We selected 16,192 polymorphisms nominally associated (p < 0.05) with case-control status, from four selected annotation categories or from loci reported to associate with metabolic traits. These variants were genotyped in 15,989 Danes to search for association with 12 metabolic phenotypes (stage 2). In stage 3, polymorphisms showing potential associations were genotyped in a further 63,896 Europeans. RESULTS: Exome sequencing identified 70,182 polymorphisms with MAF >1%. In stage 2 we identified 51 potential associations with one or more of eight metabolic phenotypes covered by 45 unique polymorphisms. In meta-analyses of stage 2 and stage 3 results, we demonstrated robust associations for coding polymorphisms in CD300LG (fasting HDL-cholesterol: MAF 3.5%, p = 8.5 × 10(-14)), COBLL1 (type 2 diabetes: MAF 12.5%, OR 0.88, p = 1.2 × 10(-11)) and MACF1 (type 2 diabetes: MAF 23.4%, OR 1.10, p = 8.2 × 10(-10)). CONCLUSIONS/INTERPRETATION: We applied exome sequencing as a basis for finding genetic determinants of metabolic traits and show the existence of low-frequency and common coding polymorphisms with impact on common metabolic traits. Based on our study, coding polymorphisms with MAF above 1% do not seem to have particularly high effect sizes on the measured metabolic traits.


Assuntos
Exoma/genética , Polimorfismo Genético/genética , Diabetes Mellitus Tipo 2/genética , Frequência do Gene/genética , Genótipo , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Hipertensão/genética , Polimorfismo de Nucleotídeo Único/genética
15.
J Health Care Poor Underserved ; 23(3 Suppl): 114-24, 2012 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-22864492

RESUMO

As part of the Health Resources and Services Administration Patient Safety and Clinical Pharmacy Services Collaborative (PSPC), an interprofessional model with medication therapy management documentation and outcomes tracking tools (MTM-DOTT) is established to improve health care access and quality for underserved populations. Despite limitations, there have been positive outcomes and national recognitions.


Assuntos
Acessibilidade aos Serviços de Saúde/organização & administração , Relações Interprofissionais , Área Carente de Assistência Médica , Conduta do Tratamento Medicamentoso/organização & administração , Modelos Organizacionais , Garantia da Qualidade dos Cuidados de Saúde/organização & administração , Acessibilidade aos Serviços de Saúde/estatística & dados numéricos , Humanos , Conduta do Tratamento Medicamentoso/normas , Estados Unidos
16.
Diabetologia ; 54(9): 2272-82, 2011 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-21717116

RESUMO

AIMS/HYPOTHESIS: Studying gene-lifestyle interaction may help to identify lifestyle factors that modify genetic susceptibility and uncover genetic loci exerting important subgroup effects. Adequately powered studies with prospective, unbiased, standardised assessment of key behavioural factors for gene-lifestyle studies are lacking. This case-cohort study aims to investigate how genetic and potentially modifiable lifestyle and behavioural factors, particularly diet and physical activity, interact in their influence on the risk of developing type 2 diabetes. METHODS: Incident cases of type 2 diabetes occurring in European Prospective Investigation into Cancer and Nutrition (EPIC) cohorts between 1991 and 2007 from eight of the ten EPIC countries were ascertained and verified. Prentice-weighted Cox regression and random-effects meta-analyses were used to investigate differences in diabetes incidence by age and sex. RESULTS: A total of 12,403 verified incident cases of type 2 diabetes occurred during 3.99 million person-years of follow-up of 340,234 EPIC participants eligible for InterAct. We defined a centre-stratified subcohort of 16,154 individuals for comparative analyses. Individuals with incident diabetes who were randomly selected into the subcohort (n = 778) were included as cases in the analyses. All prevalent diabetes cases were excluded from the study. InterAct cases were followed-up for an average of 6.9 years; 49.7% were men. Mean baseline age and age at diagnosis were 55.6 and 62.5 years, mean BMI and waist circumference values were 29.4 kg/m(2) and 102.7 cm in men, and 30.1 kg/m(2) and 92.8 cm in women, respectively. Risk of type 2 diabetes increased linearly with age, with an overall HR of 1.56 (95% CI 1.48-1.64) for a 10 year age difference, adjusted for sex. A male excess in the risk of incident diabetes was consistently observed across all countries, with a pooled HR of 1.51 (95% CI 1.39-1.64), adjusted for age. CONCLUSIONS/INTERPRETATION: InterAct is a large, well-powered, prospective study that will inform our understanding of the interplay between genes and lifestyle factors on the risk of type 2 diabetes development.


Assuntos
Diabetes Mellitus Tipo 2/epidemiologia , Diabetes Mellitus Tipo 2/genética , Predisposição Genética para Doença/genética , Estilo de Vida , Estudos de Coortes , Diabetes Mellitus Tipo 2/fisiopatologia , Dieta , Europa (Continente)/epidemiologia , Feminino , Seguimentos , Humanos , Incidência , Cooperação Internacional , Masculino , Pessoa de Meia-Idade , Atividade Motora/fisiologia , Estudos Prospectivos , Estudos Retrospectivos , Fatores de Risco
17.
Clin Radiol ; 66(8): 778-87, 2011 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-21570065

RESUMO

Spondylitis is the most common osseous manifestation of Mycobacterium tuberculosis infection. Although treatable, it continues to cause significant mortality and morbidity. Early diagnosis through familiarity with its imaging characteristics is essential to permit rapid treatment and prevent potential life-limiting consequences. In this review, we demonstrate the key magnetic resonance imaging features of this disease.


Assuntos
Imageamento por Ressonância Magnética/métodos , Espondilite/diagnóstico , Tuberculose da Coluna Vertebral/diagnóstico , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Radiobiologia , Espondilite/patologia , Tuberculose da Coluna Vertebral/patologia
19.
Diabetologia ; 54(1): 111-9, 2011 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-20878384

RESUMO

AIMS/HYPOTHESIS: Rare mutations in the gene HNF4A, encoding the transcription factor hepatocyte nuclear factor 4α (HNF-4A), account for ~5% of cases of MODY and more frequent variants in this gene may be involved in multifactorial forms of diabetes. Two low-frequency, non-synonymous variants in HNF4A (V255M, minor allele frequency [MAF] ~0.1%; T130I, MAF ~3.0%)-known to influence downstream HNF-4A target gene expression-are of interest, but previous type 2 diabetes association reports were inconclusive. We aimed to evaluate the contribution of these variants to type 2 diabetes susceptibility through large-scale association analysis. METHODS: We genotyped both variants in at least 5,745 cases and 14,756 population controls from the UK and Denmark. We also undertook an expanded association analysis that included previously reported and novel genotype data obtained in Danish, Finnish, Canadian and Swedish samples. A meta-analysis incorporating all published association studies of the T130I variant was subsequently carried out in a maximum sample size of 14,279 cases and 26,835 controls. RESULTS: We found no association between V255M and type 2 diabetes in either the initial (p = 0.28) or the expanded analysis (p = 0.44). However, T130I demonstrated a modest association with type 2 diabetes in the UK and Danish samples (additive per allele OR 1.17 [95% CI 1.08-1.28]; p = 1.5 × 10⁻4), which was strengthened in the meta-analysis (OR 1.20 [95% CI 1.10-1.30]; p = 2.1 × 10⁻5). CONCLUSIONS/INTERPRETATION: Our data are consistent with T130I as a low-frequency variant influencing type 2 diabetes risk, but are not conclusive when judged against stringent standards for genome-wide significance. This study exemplifies the difficulties encountered in association testing of low-frequency variants.


Assuntos
Diabetes Mellitus Tipo 2/genética , Fator 4 Nuclear de Hepatócito/genética , Adulto , Idoso , Feminino , Predisposição Genética para Doença/genética , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Mutação
20.
Knee Surg Sports Traumatol Arthrosc ; 19(1): 108-11, 2011 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-20552160

RESUMO

Post-traumatic myositis ossificans is a benign condition of heterotopic ossification of unknown aetiology which typically is related to trauma from a single blow or repeated episodes of microtrauma. A case of myositis ossificans that developed after hamstring autograft harvest for an open cruciate ligament and posterolateral corner reconstruction is described, a previously unrecognised complication of this procedure.


Assuntos
Lesões do Ligamento Cruzado Anterior , Traumatismos do Joelho/cirurgia , Miosite Ossificante/etiologia , Ligamento Cruzado Posterior/lesões , Tendões/transplante , Coleta de Tecidos e Órgãos/efeitos adversos , Adolescente , Ligamento Cruzado Anterior/cirurgia , Feminino , Humanos , Imageamento por Ressonância Magnética , Miosite Ossificante/diagnóstico , Procedimentos Ortopédicos/efeitos adversos , Ligamento Cruzado Posterior/cirurgia , Transplante Autólogo
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