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1.
Exp Physiol ; 109(7): 1099-1108, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38763158

RESUMO

The premise of research in human physiology is to explore a multifaceted system whilst identifying one or a few outcomes of interest. Therefore, the control of potentially confounding variables requires careful thought regarding the extent of control and complexity of standardisation. One common factor to control prior to testing is diet, as food and fluid provision may deviate from participants' habitual diets, yet a self-report and replication method can be flawed by under-reporting. Researchers may also need to consider standardisation of physical activity, whether it be through familiarisation trials, wash-out periods, or guidance on levels of physical activity to be achieved before trials. In terms of pharmacological agents, the ethical implications of standardisation require researchers to carefully consider how medications, caffeine consumption and oral contraceptive prescriptions may affect the study. For research in females, it should be considered whether standardisation between- or within-participants in regards to menstrual cycle phase is most relevant. The timing of measurements relative to various other daily events is relevant to all physiological research and so it can be important to standardise when measurements are made. This review summarises the areas of standardisation which we hope will be considered useful to anyone involved in human physiology research, including when and how one can apply standardisation to various contexts.


Assuntos
Fisiologia , Humanos , Fisiologia/normas , Fisiologia/métodos , Projetos de Pesquisa/normas , Feminino , Ciclo Menstrual/fisiologia
2.
BJU Int ; 134(2): 141-147, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38637952

RESUMO

The Getting It Right First Time (GIRFT) programme is a quality improvement initiative covering the National Health Service in England. The programme aims to standardise clinical practices and improve patient and system level outcomes by utilising data-driven insights and clinically-led recommendations. There are GIRFT workstreams for every medical and surgical specialty, including urology. Defining features of the GIRFT methodology are that it is clinically led by experienced clinicians, data-driven, and specialty specific. Each specialty workstream conducts deep-dive visits to every hospital, analysing performance data and engaging with clinicians and management to identify and share improvement priorities. For urology, GIRFT has completed deep-dive visits and published reports outlining priority areas for development. Reports include recommendations pertaining to streamlining care pathways, reducing the acuity of care environments, enhancing emergency services, optimising utilisation of outpatient services, and workforce training and utilisation. The GIRFT academy provides guides for implementing best practices specific to priority areas of care. These include important disease pathways, and GIRFT-advocated innovations such as urology investigation units and urology area networks. GIRFT offers clinical transformation, cost reduction, equity in access to care, and leaner models of care that are often more environmentally sustainable. Evaluation efforts of the programme have focussed on assessing the adoption of GIRFT recommendations, understanding barriers to change, and modelling the climate impact of advocated practices.


Assuntos
Melhoria de Qualidade , Urologia , Humanos , Inglaterra , Medicina Estatal
3.
Clin Chem Lab Med ; 62(5): 824-829, 2024 Apr 25.
Artigo em Inglês | MEDLINE | ID: mdl-38295422

RESUMO

Thyroid-stimulating hormone (TSH) is an important clinical marker in the diagnosis and management of thyroid disease. TSH measurements are reported in milli-International Units per Litre (mIU/L), traceable to a World Health Organisation (WHO) reference material. There is a wide variety of commercial immunoassays for TSH measurements available, which have historically been poorly harmonised due to a lack of commutability of the WHO reference materials with patient samples. This led to the recent development of a serum-based reference panel for TSH, traceable to the WHO reference material, available via the International Federation for Clinical Chemistry and Laboratory Medicine (IFCC), aimed at harmonisation of TSH immunoassays. This report describes recent developments in the TSH reference system, including establishment of the 4th WHO International Standard for TSH, and aims to clarify the relationship between the available reference materials and their intended uses. This 4th WHO IS is widely available and defines the unit of TSH activity, therefore its continued existence is of paramount importance, however it continues to show a lack of commutability with patient in many TSH immunoassays. This makes the C-STFT TSH panel, albeit available in restricted numbers, a critical resource to ensure better TSH assay harmonisation.


Assuntos
Doenças da Glândula Tireoide , Tireotropina , Humanos , Padrões de Referência , Química Clínica , Imunoensaio , Valores de Referência
4.
Br J Anaesth ; 132(5): 1049-1062, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38448269

RESUMO

BACKGROUND: Artificial intelligence (AI) for ultrasound scanning in regional anaesthesia is a rapidly developing interdisciplinary field. There is a risk that work could be undertaken in parallel by different elements of the community but with a lack of knowledge transfer between disciplines, leading to repetition and diverging methodologies. This scoping review aimed to identify and map the available literature on the accuracy and utility of AI systems for ultrasound scanning in regional anaesthesia. METHODS: A literature search was conducted using Medline, Embase, CINAHL, IEEE Xplore, and ACM Digital Library. Clinical trial registries, a registry of doctoral theses, regulatory authority databases, and websites of learned societies in the field were searched. Online commercial sources were also reviewed. RESULTS: In total, 13,014 sources were identified; 116 were included for full-text review. A marked change in AI techniques was noted in 2016-17, from which point on the predominant technique used was deep learning. Methods of evaluating accuracy are variable, meaning it is impossible to compare the performance of one model with another. Evaluations of utility are more comparable, but predominantly gained from the simulation setting with limited clinical data on efficacy or safety. Study methodology and reporting lack standardisation. CONCLUSIONS: There is a lack of structure to the evaluation of accuracy and utility of AI for ultrasound scanning in regional anaesthesia, which hinders rigorous appraisal and clinical uptake. A framework for consistent evaluation is needed to inform model evaluation, allow comparison between approaches/models, and facilitate appropriate clinical adoption.


Assuntos
Anestesia por Condução , Inteligência Artificial , Humanos , Ultrassonografia , Simulação por Computador , Bases de Dados Factuais
5.
Br J Anaesth ; 132(5): 1016-1021, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38302346

RESUMO

A recent study by Suissa and colleagues explored the clinical relevance of a medical image segmentation metric (Dice metric) commonly used in the field of artificial intelligence (AI). They showed that pixel-wise agreement for physician identification of structures on ultrasound images is variable, and a relatively low Dice metric (0.34) correlated to a substantial agreement on subjective clinical assessment. We highlight the need to bring structure and clinical perspective to the evaluation of medical AI, which clinicians are best placed to direct.


Assuntos
Anestesia por Condução , Médicos , Humanos , Inteligência Artificial
6.
Arch Toxicol ; 98(4): 1111-1123, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38368582

RESUMO

While grouping/read-across is widely used to fill data gaps, chemical registration dossiers are often rejected due to weak category justifications based on structural similarity only. Metabolomics provides a route to robust chemical categories via evidence of shared molecular effects across source and target substances. To gain international acceptance, this approach must demonstrate high reliability, and best-practice guidance is required. The MetAbolomics ring Trial for CHemical groupING (MATCHING), comprising six industrial, government and academic ring-trial partners, evaluated inter-laboratory reproducibility and worked towards best-practice. An independent team selected eight substances (WY-14643, 4-chloro-3-nitroaniline, 17α-methyl-testosterone, trenbolone, aniline, dichlorprop-p, 2-chloroaniline, fenofibrate); ring-trial partners were blinded to their identities and modes-of-action. Plasma samples were derived from 28-day rat tests (two doses per substance), aliquoted, and distributed to partners. Each partner applied their preferred liquid chromatography-mass spectrometry (LC-MS) metabolomics workflows to acquire, process, quality assess, statistically analyze and report their grouping results to the European Chemicals Agency, to ensure the blinding conditions of the ring trial. Five of six partners, whose metabolomics datasets passed quality control, correctly identified the grouping of eight test substances into three categories, for both male and female rats. Strikingly, this was achieved even though a range of metabolomics approaches were used. Through assessing intrastudy quality-control samples, the sixth partner observed high technical variation and was unable to group the substances. By comparing workflows, we conclude that some heterogeneity in metabolomics methods is not detrimental to consistent grouping, and that assessing data quality prior to grouping is essential. We recommend development of international guidance for quality-control acceptance criteria. This study demonstrates the reliability of metabolomics for chemical grouping and works towards best-practice.


Assuntos
Espectrometria de Massa com Cromatografia Líquida , Metabolômica , Ratos , Masculino , Feminino , Animais , Reprodutibilidade dos Testes , Metabolômica/métodos , Fluxo de Trabalho
7.
BMC Public Health ; 24(1): 1627, 2024 Jun 18.
Artigo em Inglês | MEDLINE | ID: mdl-38890645

RESUMO

BACKGROUND: Stroke among younger age groups is increasing globally. While there is a focus on research conducted on people under 65 years who have had a stroke, there is a paucity of data on the incidence and risk factors of stroke among younger people (≤ 30 years). This scoping review examines evidence on incidence and risk factors for perinatal, paediatric and young adult stroke globally. METHODS: The review was guided by the Joanna Briggs Institute's scoping review methodology. A systematic search was conducted on 23rd March 2022 across Medline Ovid, Embase, PsycINFO and Cumulative Index to Nursing and Allied Health Literature (CINAHL). The eligibility criteria included all study designs providing information on the incidence and risk factors of stroke among young people (≤ 30 years) in the last ten years. RESULTS: A total of 5750 articles were identified. After screening, 471 articles (224 cohort studies (47.6%), 164 case studies/case series (34.8%), 35 reviews (7.4%), 30 case-control (6.4%) and 18 combinations of designs (3.8%) were included. There was data from 50 different countries, 199 studies were from high-income countries, upper and middle income (n = 38), lower middle-income (n = 39), low-income (n = 3) countries, international study (n = 7) and a further 185 articles did not state the country of research. Most of the studies (63%) focused on risk factors while incidence constituted 37%. Incidence data were reported heterogeneously across studies, leading to an inability to synthesise data. The three most frequently reported risk factors for perinatal stroke were infections, cardiac conditions, and intrapartum factors. Vasculopathies, infection and cardiac conditions accounted for most reported risk factors for paediatric stroke, while chronic conditions such as diabetes mellitus, vasculopathies and cardiac conditions accounted for the most reported risk factors among young adults. CONCLUSION: This review has highlighted different stroke risk factors for each age cohort of people under 30 years. The low number of epidemiological studies suggests that further research of this type is needed to fully understand the incidence and risk factors in young stroke. A standardised reporting of age groupings of incidence data is imperative to enable the comparison of data from different geographical locations.


Assuntos
Acidente Vascular Cerebral , Adulto , Feminino , Humanos , Masculino , Adulto Jovem , Fatores Etários , Saúde Global/estatística & dados numéricos , Incidência , Internacionalidade , Fatores de Risco , Acidente Vascular Cerebral/epidemiologia , Criança , Adolescente
8.
Adv Exp Med Biol ; 1435: 13-31, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38175469

RESUMO

Since the turn of the millennium, the epidemiology of Clostridioides difficile infection (CDI) has continued to challenge. Changes in clinical presentation, severity of disease, descriptions of new risk factors and the occurrence of outbreaks all emphasised the importance of early diagnosis and standardised surveillance systems. However, a lack of consensus on case definitions, clinical guidelines and optimal laboratory diagnostics across Europe has led to the underestimation of CDI and impeded comparison between countries. These inconsistencies have prevented the true burden of disease from being appreciated.Acceptance that a multi-country CDI surveillance program and optimised diagnostic strategies are required has built the foundations for a more robust, unified surveillance. The concerted efforts of the European Centre for Disease Prevention and Control (ECDC) CDI networks led to the development of the European surveillance protocol and an over-arching long-term CDI surveillance strategy for 2014-2020, which has been followed by the development of surveillance systems in at least 20 European countries. However, surveillance activities in individual countries have slowed during the COVID-19 pandemic as resources were diverted to the global health crisis. A renewed and strengthened focus on CDI surveillance and prevention is therefore urgently needed post COVID-19.


Assuntos
COVID-19 , Infecções por Clostridium , Humanos , Pandemias/prevenção & controle , COVID-19/epidemiologia , Infecções por Clostridium/diagnóstico , Infecções por Clostridium/epidemiologia , Infecções por Clostridium/prevenção & controle , Surtos de Doenças , Europa (Continente)/epidemiologia
9.
Sociol Health Illn ; 46(2): 315-332, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37699725

RESUMO

The post-racial discourse that permeates many Western European countries depicts society as having moved beyond race concepts and classifications. This article focuses on Sweden, a country that, in line with the post-racial thinking, declares race to be an offensive and unscientific concept. The article investigates what happens when this post-racial discourse meets clinical research standards that encourage, if not demand, the collection of data on patient race. Through an analysis of the reporting of patient race in 76 multinational trials with at least one study site in Sweden, and a review of the regulatory and medical standards and trial documents that direct the collection of patient race in trials, we show how race classification is kept intact in trials despite conflicting with post-racial norms and conventions. Notably, our findings diverge from the way racialisation is typically assumed to work in Sweden and related countries. We argue this is possible because the two incompatible understandings of race are 'distributed' (Mol, 2002, The body multiple: Ontology in medical practice, Duke University Press) among different social worlds. The distribution, we propose, is upheld through the paucity of major debate on why and how race classification should be carried out in clinical trials in Europe as this allows contradictions to remain unspoken.


Assuntos
Ensaios Clínicos como Assunto , Etnicidade , Grupos Raciais , Humanos , Europa (Continente) , Suécia
10.
J Intellect Disabil Res ; 68(8): 893-915, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38600638

RESUMO

This systematic review aimed to provide an overview of test protocols used to measure peak oxygen uptake (VO2peak) in adults with Down syndrome (DS) and to determine how generalisable the outcomes are for the entire population of adults with DS by describing the sample characteristics of these studies and their impact on VO2peak. A literature search (PROSPERO CRD42022309560) was performed (18 July 2023) using the following databases: PubMed, CINAHL, APA PsycINFO, Web of Science, Embase and SPORTDiscus. For articles to be included, they had to be peer-reviewed pubications, reporting VO2peak or VO2max for individuals with DS separately, with a sample of n ≥ 5 and a mean age ≥18 years. Systematic reviews and meta-analyses were excluded but their reference lists were searched for additional papers to include. Studies were evaluated for risk of bias following the guidelines of Kmet et al. The results were summarised with frequency statistics. Forty-three studies were included in this systematic review. Sample sizes of included adults with DS ranged from n = 4-226, with a total of n = 1498 adults with DS being included. Most studies (29/43) used the same standardised maximal exercise treadmill protocol to measure VO2peak in adults with DS, and 33 out of 43 studies used at least one objective criterion to determine a valid maximal effort. Participants were predominantly male, under 40 years old, and overweight or obese. Additionally, the diversity of study samples was lacking or not reported. The most widely used, standardised, maximal exercise test treadmill protocol is recommended for future use in research and practice, including objective criteria to determine valid maximal effort. The current study samples are not representative of the population of adults with DS in terms of sex, age and diverse backgrounds and therefore likely overestimate VO2peak of this population.


Assuntos
Síndrome de Down , Teste de Esforço , Consumo de Oxigênio , Humanos , Síndrome de Down/fisiopatologia , Consumo de Oxigênio/fisiologia , Adulto , Teste de Esforço/normas , Teste de Esforço/métodos , Adulto Jovem
11.
J Adv Nurs ; 80(2): 612-627, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37574768

RESUMO

AIM: To explore how nurses' professional discretion is operationalized in home care services that follow a purchaser-provider organization in Norway. DESIGN: A qualitative descriptive study. METHODS: Semi-structured interviews with open-ended questions were used, and data were collected from in-depth interviews with 15 registered nurses working in home care in four Norwegian local authority areas between April and November 2020. Braun and Clark's six-step analysis was used to analyse the empirical data. RESULTS: The analysis yielded two main themes, namely 'The purchaser's instructions: facilitating and constraining care' and 'Professional discretion meets the purchaser-provider organisation of healthcare,' with five associated codes. CONCLUSION: Nurses are dependent on an organizational framework due to the complexity of health care services and the number of tasks involved. At the same time, they perform considerable compensatory work and need the ability to be flexible to enable this work and to perform actions related to the unforeseen needs of individual patients or those involving professional discretion. IMPACT: The purchaser-provider model both facilitates and constrains nursing practice and professional responsibility in home nursing. Home nursing services need to be well organized because of their complexity and the wide variety of tasks they involve. In this context, the element of constraint is associated with the need for flexibility and professional discretion. Despite a strict framework, the nurses perform additional and compensatory tasks. Reforms inspired by 'New Public Management,' such as the purchaser-provider split, limit the workload for nurses; however, there is still a need to exercise discretion. The findings of this study may help home care managers and health policy-makers understand the interaction between management logic and health care logic, leading to a more appropriate organization of health care services where the nurses, as actors, gain more trust. IMPLICATIONS: This study highlights home care nurses' opportunities to exercise discretion in an organizational framework that strives towards standardization. The nurses' ability to exercise discretion is important for individual and holistic patient care. At the same time, an organizational framework is needed because nurses cannot attend to all the needs the patients may have, as this will overload both home health services and the nurses.


Assuntos
Serviços de Assistência Domiciliar , Enfermeiras e Enfermeiros , Humanos , Atenção à Saúde , Assistência Domiciliar , Noruega
12.
Int J Sport Nutr Exerc Metab ; 34(4): 242-250, 2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-38763509

RESUMO

The premise of research in human physiology is to explore a multifaceted system whilst identifying one or a few outcomes of interest. Therefore, the control of potentially confounding variables requires careful thought regarding the extent of control and complexity of standardisation. One common factor to control prior to testing is diet, as food and fluid provision may deviate from participants' habitual diets, yet a self-report and replication method can be flawed by under-reporting. Researchers may also need to consider standardisation of physical activity, whether it be through familiarisation trials, wash-out periods, or guidance on levels of physical activity to be achieved before trials. In terms of pharmacological agents, the ethical implications of standardisation require researchers to carefully consider how medications, caffeine consumption and oral contraceptive prescriptions may affect the study. For research in females, it should be considered whether standardisation between- or within-participants in regards to menstrual cycle phase is most relevant. The timing of measurements relative to various other daily events is relevant to all physiological research and so it can be important to standardise when measurements are made. This review summarises the areas of standardisation which we hope will be considered useful to anyone involved in human physiology research, including when and how one can apply standardisation to various contexts.


Assuntos
Projetos de Pesquisa , Feminino , Humanos , Pesquisa Biomédica/normas , Pesquisa Biomédica/ética , Pesquisa Biomédica/métodos , Cafeína/administração & dosagem , Cafeína/farmacologia , Dieta , Exercício Físico , Ciclo Menstrual , Projetos de Pesquisa/normas , Masculino
13.
Artigo em Alemão | MEDLINE | ID: mdl-38177604

RESUMO

Real-world data is increasingly becoming the focus of healthcare research in the context of digitization. The timely availability of large amounts of data gives hope that research questions can be answered quickly without additional data collection and that a direct benefit for the care of people can be achieved. Especially in acute care situations, such as heat waves or a pandemic, this can be crucial. But real-world data depend quite significantly on the quality and intent of data collection. It is also influenced by determinations on semantic and syntactic standards that are made for primary data - often considering different use cases. In the context of different initiatives on national and international levels, a holistic view on data collection and evaluation and a regular feedback mechanism between data evaluation and specifications for the collection should be established. By including requirements for secondary data evaluation in the definition processes for data collection, the informative value of the data for research can be increased in the long term.In this discussion paper, the activities for standardized data collection in the context of the digitization initiatives and the corresponding European approaches are first presented. After outlining the effects of these activities on the possibilities and difficulties of data consolidation for the analysis of real-world data, the article calls for an ongoing discourse between the different areas.


Assuntos
Confiabilidade dos Dados , Pesquisa sobre Serviços de Saúde , Humanos , Alemanha , Coleta de Dados
14.
Br J Nurs ; 33(7): 326-336, 2024 Apr 04.
Artigo em Inglês | MEDLINE | ID: mdl-38578934

RESUMO

BACKGROUND: UK healthcare expenditure is now £193.8 billion a year. The procurement function is seen as central to driving efficiencies within the NHS. This comes with an increasing onus on clinicians, including nurses and allied health professionals, to accept procurement outcomes to realise efficiency savings, with or without prior engagement. AIMS: This empirical study seeks to examine whether clinical engagement in the procurement of healthcare products in the NHS is necessary to achieve value, savings and standardisation; it will thereby address a gap in the research. METHODS: A multi-method qualitative case study design was used, which included a survey and eight semi-structured interviews. FINDINGS: Results identified three factors that influence the achievement of value, savings and standardisation around clinical engagement: micro-level processes for clinical engagement; clinical stakeholders and clinical procurement professionals as experts at the centre of procurement activity; and clinical value in standardisation. A shift away from standardisation to resilience was identified, resulting from current market supply pressures. CONCLUSION: This research brings empirically derived findings to address gaps in research, supports the benefit of clinical engagement through specific forums for collaboration at a trust level and provides a clinical/expert impact/preference matrix as a resource for procurement professionals to facilitate clinical engagement.


Assuntos
Atenção à Saúde , Medicina Estatal , Humanos , Padrões de Referência , Pesquisa Qualitativa
15.
Diabetologia ; 66(8): 1357-1377, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37222772

RESUMO

Patient-reported outcomes (PROs) are valuable for shared decision making and research. Patient-reported outcome measures (PROMs) are questionnaires used to measure PROs, such as health-related quality of life (HRQL). Although core outcome sets for trials and clinical practice have been developed separately, they, as well as other initiatives, recommend different PROs and PROMs. In research and clinical practice, different PROMs are used (some generic, some disease-specific), which measure many different things. This is a threat to the validity of research and clinical findings in the field of diabetes. In this narrative review, we aim to provide recommendations for the selection of relevant PROs and psychometrically sound PROMs for people with diabetes for use in clinical practice and research. Based on a general conceptual framework of PROs, we suggest that relevant PROs to measure in people with diabetes are: disease-specific symptoms (e.g. worries about hypoglycaemia and diabetes distress), general symptoms (e.g. fatigue and depression), functional status, general health perceptions and overall quality of life. Generic PROMs such as the 36-Item Short Form Health Survey (SF-36), WHO Disability Assessment Schedule (WHODAS 2.0), or Patient-Reported Outcomes Measurement Information System (PROMIS) measures could be considered to measure commonly relevant PROs, supplemented with disease-specific PROMs where needed. However, none of the existing diabetes-specific PROM scales has been sufficiently validated, although the Diabetes Symptom Self-Care Inventory (DSSCI) for measuring diabetes-specific symptoms and the Diabetes Distress Scale (DDS) and Problem Areas in Diabetes (PAID) for measuring distress showed sufficient content validity. Standardisation and use of relevant PROs and psychometrically sound PROMs can help inform people with diabetes about the expected course of disease and treatment, for shared decision making, to monitor outcomes and to improve healthcare. We recommend further validation studies of diabetes-specific PROMs that have sufficient content validity for measuring disease-specific symptoms and consider generic item banks developed based on item response theory for measuring commonly relevant PROs.


Assuntos
Diabetes Mellitus , Qualidade de Vida , Humanos , Medidas de Resultados Relatados pelo Paciente , Inquéritos e Questionários , Inquéritos Epidemiológicos , Diabetes Mellitus/terapia
16.
IUBMB Life ; 75(5): 380-389, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-35880706

RESUMO

The HUGO Gene Nomenclature Committee (HGNC) is the sole group with the authority to approve symbols for human genes, including long non-coding RNA (lncRNA) genes. Use of approved symbols ensures that publications and biomedical databases are easily searchable and reduces the risks of confusion that can be caused by using the same symbol to refer to different genes or using many different symbols for the same gene. Here, we describe how the HGNC names lncRNA genes and review the nomenclature of the seven lncRNA genes most mentioned in the scientific literature.


Assuntos
RNA Longo não Codificante , Humanos , RNA Longo não Codificante/genética , Bases de Dados Genéticas
17.
Neuropathol Appl Neurobiol ; 49(2): e12892, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36798010

RESUMO

The European Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative (ESMI) is a consortium established with the ambition to set up the largest European longitudinal trial-ready cohort of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease (SCA3/MJD), the most common autosomal dominantly inherited ataxia worldwide. A major focus of ESMI has been the identification of SCA3/MJD biomarkers to enable future interventional studies. As biosample collection and processing variables significantly impact the outcomes of biomarkers studies, biosampling procedures standardisation was done previously to study visit initiation. Here, we describe the ESMI consensus biosampling protocol, developed within the scope of ESMI, that ultimately might be translated to other neurodegenerative disorders, particularly ataxias, being the first step to protocol harmonisation in the field.


Assuntos
Ataxia Cerebelar , Doença de Machado-Joseph , Ataxias Espinocerebelares , Degenerações Espinocerebelares , Humanos , Biomarcadores
18.
Metabolomics ; 19(7): 62, 2023 Jun 23.
Artigo em Inglês | MEDLINE | ID: mdl-37351733

RESUMO

INTRODUCTION: Assessing intraspecific variation in plant volatile organic compounds (VOCs) involves pitfalls that may bias biological interpretation, particularly when several laboratories collaborate on joint projects. Comparative, inter-laboratory ring trials can inform on the reproducibility of such analyses. OBJECTIVES: In a ring trial involving five laboratories, we investigated the reproducibility of VOC collections with polydimethylsiloxane (PDMS) and analyses by thermal desorption-gas chromatography-mass spectrometry (TD-GC-MS). As model plant we used Tanacetum vulgare, which shows a remarkable diversity in terpenoids, forming so-called chemotypes. We performed our ring-trial with two chemotypes to examine the sources of technical variation in plant VOC measurements during pre-analytical, analytical, and post-analytical steps. METHODS: Monoclonal root cuttings were generated in one laboratory and distributed to five laboratories, in which plants were grown under laboratory-specific conditions. VOCs were collected on PDMS tubes from all plants before and after a jasmonic acid (JA) treatment. Thereafter, each laboratory (donors) sent a subset of tubes to four of the other laboratories (recipients), which performed TD-GC-MS with their own established procedures. RESULTS: Chemotype-specific differences in VOC profiles were detected but with an overall high variation both across donor and recipient laboratories. JA-induced changes in VOC profiles were not reproducible. Laboratory-specific growth conditions led to phenotypic variation that affected the resulting VOC profiles. CONCLUSION: Our ring trial shows that despite large efforts to standardise each VOC measurement step, the outcomes differed both qualitatively and quantitatively. Our results reveal sources of variation in plant VOC research and may help to avoid systematic errors in similar experiments.


Assuntos
Compostos Orgânicos Voláteis , Compostos Orgânicos Voláteis/análise , Reprodutibilidade dos Testes , Metabolômica , Terpenos/análise , Cromatografia Gasosa-Espectrometria de Massas/métodos , Plantas
19.
Eur J Vasc Endovasc Surg ; 65(6): 802-808, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-36736617

RESUMO

OBJECTIVE: The aim of this study was to propose computed tomography angiography (CTA) based anatomical segmentation of the superior mesenteric artery (SMA), in order to standardise the reporting of occlusive lesions in acute mesenteric ischaemia (AMI). METHODS: A retrospective CTA evaluation of patients with occlusive AMI admitted between 2016 and 2021. After the screening of 468 patients, 95 were included. The SMA was segmented into proximal (S1, ostium to the inferior pancreaticoduodenal artery), middle (S2, from the inferior pancreaticoduodenal to the ileocolic artery), and distal (S3, downstream the ileocolic artery) sections. The jejunal arteries were labelled J1 to J6, and the middle, right, and ileocolic arteries C1, C2, and C3. Two radiologists independently applied the proposed segmentation to a cohort of patients with occlusive AMI to describe occlusive lesions. Intra- and inter-rater agreement was assessed with kappa statistics. RESULTS: Occlusions involved one segment in 50 (53%) patients (S1, n = 27 [28%]; S2, n = 12 [13%]; S3, n = 11 [12%]); two segments in 37 (39%) patients (S2/S3, n = 31 [33%]; S1/S2, n = 3 [3%]; S1/S3, n = 3 [3%]); and all three segments in eight patients (S1/S2/S3, 8%). The median number of jejunal arteries was four (interquartile range 3, 4.5). C1 and C2 were present in 93 (98%) and 23 patients (24%), respectively. Almost perfect intra-rater agreement was obtained for S1 (91% agreement, κ = 0.82, 95% confidence interval [CI] 0.72 - 0.92); substantial agreement was obtained for S2 (90% agreement, κ = 0.80, 95% CI 0.68 - 0.92) and S3 (86% agreement, κ = 0.72, 95% CI 0.58 - 0.86). Almost perfect inter-rater agreement (with the second junior reading) was obtained for S1 (97% agreement, κ = 0.95, 95% CI 0.89 - 1.0), S2 (91% agreement, κ = 0.82, 95% CI 0.72 - 0.92), and S3 (agreement 96%, κ = 0.91, 95% CI 0.83 - 0.99). CONCLUSION: A standardised CTA based anatomical segmental description of SMA occlusive lesions in AMI is proposed; it provided substantial to almost perfect intra- and inter-rater agreement for most anatomical segments.


Assuntos
Isquemia Mesentérica , Humanos , Isquemia Mesentérica/diagnóstico por imagem , Artéria Mesentérica Superior/diagnóstico por imagem , Estudos Retrospectivos , Angiografia por Tomografia Computadorizada/métodos , Angiografia , Isquemia
20.
Int J Legal Med ; 137(4): 1193-1202, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-36862160

RESUMO

While human identification is a crucial aspect of medico-legal investigations, many individuals remain unidentified each year across the world. The burden of unidentified bodies is often referred to when motivating for improved methods of identification, and anatomical teaching, yet the actual burden is somewhat unclear. A systematic literature review was undertaken to identify articles that empirically investigate the number of unidentified bodies experienced. Despite the large number of articles returned, an alarmingly low number (24 articles) provided specific and empirical details on the number of unidentified bodies, demographics and trends thereof. It is possible that this lack of data is due to the variable definition of 'unidentified' bodies and the use of alternative terminology such as 'homelessness' or 'unclaimed' bodies. Nevertheless, the 24 articles provided data for 15 forensic facilities across ten countries of both developed and developing statuses. On average, developing countries experienced more than double (9.56%) the number of unidentified bodies when compared to developed nations (4.40%). While facilities were mandated under different legislations and infrastructures available varied greatly, the most common issue faced is the lack of standardised procedures for forensic human identification. Further to this, the need for investigative databases was highlighted. Through addressing the standardisation of identification procedures and terminology, alongside the appropriate utilisation of existing infrastructure and database creation, the number of unidentified bodies could be significantly reduced globally.


Assuntos
Antropologia Forense , Medicina Legal , Humanos , Bases de Dados Factuais
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