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1.
Future Healthc J ; 11(2): 100133, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38766626

RESUMO

Introduction: Low confidence in genomics knowledge among clinicians is a major barrier to the integration of genomics into mainstream medicine. Here, we assessed the genomics confidence of UK medical students approaching graduation. Methods: We conducted a web-based nationwide survey of UK medical students in the final 2 years of study where participants rated their confidence in genomics concepts. Results: In total, 145 medical students across 19 medical schools participated. The amount of genomics teaching students reported receiving was positively associated with genomics confidence, with the amount of basic science teaching having the strongest influence. While confidence was high in core genomics principles, such as the difference between DNA, genes and chromosomes (95%), confidence dropped in clinical applications of genomics - only 50% reported a good understanding of the genetic contribution to disease and 28% reported good knowledge of clinically used genomic tests. Overall, 59% reported a poor understanding of variant interpretation; however, over half who reported receiving 'lots' of genomic medicine teaching reported a good understanding of this topic. Conclusion: Gaps in genomics knowledge and drivers in confidence have been identified herein, highlighting the need for improvements in undergraduate genomics education to prepare future doctors to confidently practise in the genomics era.

2.
Eur Heart J ; 45(12): 998-1013, 2024 Mar 27.
Artigo em Inglês | MEDLINE | ID: mdl-38243824

RESUMO

BACKGROUND AND AIMS: Knowledge of quantifiable cardiovascular disease (CVD) risk may improve health outcomes and trigger behavioural change in patients or clinicians. This review aimed to investigate the impact of CVD risk communication on patient-perceived CVD risk and changes in CVD risk factors. METHODS: PubMed, Embase, and PsycINFO databases were searched from inception to 6 June 2023, supplemented by citation analysis. Randomized trials that compared any CVD risk communication strategy versus usual care were included. Paired reviewers independently screened the identified records and extracted the data; disagreements were resolved by a third author. The primary outcome was the accuracy of risk perception. Secondary outcomes were clinician-reported changes in CVD risk, psychological responses, intention to modify lifestyle, and self-reported changes in risk factors and clinician prescribing of preventive medicines. RESULTS: Sixty-two trials were included. Accuracy of risk perception was higher among intervention participants (odds ratio = 2.31, 95% confidence interval = 1.63 to 3.27). A statistically significant improvement in overall CVD risk scores was found at 6-12 months (mean difference = -0.27, 95% confidence interval = -0.45 to -0.09). For primary prevention, risk communication significantly increased self-reported dietary modification (odds ratio = 1.50, 95% confidence interval = 1.21 to 1.86) with no increase in intention or actual changes in smoking cessation or physical activity. A significant impact on patients' intention to start preventive medication was found for primary and secondary prevention, with changes at follow-up for the primary prevention group. CONCLUSIONS: In this systematic review and meta-analysis, communicating CVD risk information, regardless of the method, reduced the overall risk factors and enhanced patients' self-perceived risk. Communication of CVD risk to patients should be considered in routine consultations.


Assuntos
Doenças Cardiovasculares , Abandono do Hábito de Fumar , Humanos , Doenças Cardiovasculares/prevenção & controle , Fatores de Risco , Comunicação , Exercício Físico , Prevenção Primária/métodos
3.
Res Synth Methods ; 15(2): 257-274, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38044791

RESUMO

Predatory journals are a blemish on scholarly publishing and academia and the studies published within them are more likely to contain data that is false. The inclusion of studies from predatory journals in evidence syntheses is potentially problematic due to this propensity for false data to be included. To date, there has been little exploration of the opinions and experiences of evidence synthesisers when dealing with predatory journals in the conduct of their evidence synthesis. In this paper, the thoughts, opinions, and attitudes of evidence synthesisers towards predatory journals and the inclusion of studies published within these journals in evidence syntheses were sought. Focus groups were held with participants who were experienced evidence synthesisers from JBI (previously the Joanna Briggs Institute) collaboration. Utilising qualitative content analysis, two generic categories were identified: predatory journals within evidence synthesis, and predatory journals within academia. Our findings suggest that evidence synthesisers believe predatory journals are hard to identify and that there is no current consensus on the management of these studies if they have been included in an evidence synthesis. There is a critical need for further research, education, guidance, and development of clear processes to assist evidence synthesisers in the management of studies from predatory journals.


Assuntos
Publicações Periódicas como Assunto , Humanos , Inquéritos e Questionários , Pesquisa Qualitativa
4.
J Clin Epidemiol ; 165: 111197, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37879542

RESUMO

OBJECTIVE: To assess the replicability of a 2-week systematic review (index 2weekSR) created with the assistance of automation tools using the fidelity method. METHODS: A Preferred Reporting Items for Systematic reviews and Meta-Analyses compliant SR protocol was developed based on the published information of the index 2weekSR study. The replication team consisted of three reviewers. Two reviewers blocked off time during the replication. The total time to complete tasks and the meta-analysis results were compared with the index 2weekSR study. Review process fidelity scores (FSs) were calculated for review methods and outcomes. Barriers to completing the replication were identified. RESULTS: The review was completed over 63 person-hours (11 workdays/15 calendar days). A FS of 0.95 was achieved for the methods, with 3 (of 8) tasks only partially replicated, and an FS of 0.63 for the outcomes, with 6 (of 7) only partially replicated and one task was not replicated. Nonreplication was mainly caused by missing information in the index 2weekSR study that was not required in standard reporting guidelines. The replication arrived at the same conclusions as the original study. CONCLUSION: A 2weekSR study was replicated by a small team of three reviewers supported by automation tools. Including additional information when reporting SRs should improve their replicability.

5.
J Med Internet Res ; 25: e49942, 2023 11 17.
Artigo em Inglês | MEDLINE | ID: mdl-37976100

RESUMO

BACKGROUND: Telehealth has been used for health care delivery for decades, but the COVID-19 pandemic greatly accelerated the uptake of telehealth in many care settings globally. However, few studies have carried out a direct comparison among different telehealth modalities, with very few studies having compared the effectiveness of telephone and video telehealth modalities. OBJECTIVE: This study aimed to identify and synthesize randomized controlled trials (RCTs) comparing synchronous telehealth consultations delivered by telephone and those conducted by video with outcomes such as clinical effectiveness, patient safety, cost-effectiveness, and patient and clinician satisfaction with care. METHODS: PubMed (MEDLINE), Embase, and CENTRAL were searched via the Cochrane Library from inception until February 10, 2023, for RCTs without any language restriction. Forward and backward citation searches were conducted on included RCTs. The Cochrane Risk of Bias 2 tool was used to assess the quality of the studies. We included studies carried out in any health setting-involving all types of outpatient cohorts and all types of health care providers-that compared synchronous video consultations directly with telephone consultations and reported outcomes specified in the objective. We excluded studies of clinician-to-clinician telehealth consults, hospitalized patients, and asynchronous consultations. RESULTS: Sixteen RCTs-10 in the United States, 3 in the United Kingdom, 2 in Canada, and 1 in Australia involving 1719 participants-were included in the qualitative and quantitative analyses. Most of the telehealth interventions were for hospital-based outpatient follow-ups, monitoring, and rehabilitation (n=13). The 3 studies that were conducted in the community all focused on smoking cessation. In half of the studies, nurses delivered the care (n=8). Almost all included studies had high or unclear risk of bias, mainly due to bias in the randomization process and selection of reported results. The trials found no substantial differences between telephone and video telehealth consultations with regard to clinical effectiveness, patient satisfaction, and health care use (cost-effectiveness) outcomes. None of the studies reported on patient safety or adverse events. We did not find any study on telehealth interventions for diagnosis, initiating new treatment, or those conducted in a primary care setting. CONCLUSIONS: Based on a small set of diverse trials, we found no notable differences between telephone and video consultations for the management of patients with an established diagnosis. There is also a significant lack of telehealth research in primary care settings despite its high uptake.


Assuntos
Telemedicina , Telefone , Humanos , Telemedicina/métodos , Satisfação Pessoal , Austrália , Canadá , Ensaios Clínicos Controlados Aleatórios como Assunto
6.
Mol Genet Metab ; 140(4): 107713, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37922835

RESUMO

Neuronal ceroid lipofuscinosis type 2 (CLN2) is an autosomal recessive neurodegenerative disorder with enzyme replacement therapy available. We present two siblings with a clinical diagnosis of CLN2 disease, but no identifiable TPP1 variants after standard clinical testing. Long-read sequencing identified a homozygous deep intronic variant predicted to affect splicing, confirmed by clinical DNA and RNA sequencing. This case demonstrates how traditional laboratory assays can complement emerging molecular technologies to provide a precise molecular diagnosis.


Assuntos
Lipofuscinoses Ceroides Neuronais , Tripeptidil-Peptidase 1 , Humanos , Serina Proteases/genética , Aminopeptidases/genética , Dipeptidil Peptidases e Tripeptidil Peptidases/genética , Lipofuscinoses Ceroides Neuronais/genética
7.
Angew Chem Int Ed Engl ; 62(49): e202313880, 2023 Dec 04.
Artigo em Inglês | MEDLINE | ID: mdl-37871234

RESUMO

Atomically defined large metal clusters have applications in new reaction development and preparation of materials with tailored properties. Expanding the synthetic toolbox for reactive high nuclearity metal complexes, we report a new class of Fe clusters, Tp*4 W4 Fe13 S12 , displaying a Fe13 core with M-M bonds that has precedent only in main group and late metal chemistry. M13 clusters with closed shell electron configurations can show significant stability and have been classified as superatoms. In contrast, Tp*4 W4 Fe13 S12 displays a large spin ground state of S=13. This compound performs small molecule activations involving the transfer of up to 12 electrons resulting in significant cluster rearrangements.

8.
J Telemed Telecare ; : 1357633X231204071, 2023 Oct 13.
Artigo em Inglês | MEDLINE | ID: mdl-37828853

RESUMO

OBJECTIVE: This systematic review and meta-analysis compared the effectiveness of the delivery of care to patients with insomnia via telehealth to its delivery face-to-face. METHODS: We searched Medline, Embase, and Cochrane CENTRAL from inception to 11 January 2023, and conducted a citation analysis on 13 June 2023. No language restrictions were imposed. We included randomised controlled trials. Where feasible, mean differences were calculated; we used a random effects model. RESULTS: Four trials (239 patients) were included. There were no significant differences between telehealth and face-to-face for insomnia severity scores shortly post-intervention (MD 1.13, 95% CI -0.29-2.55) or at 3 months (mean difference (MD) 1.79, 95% CI -0.01-3.59). There were no differences in Short Form-36 physical and mental scores, Work and Social Adjustment scores, and sleep quality components. Depression scores did not differ post-intervention or at 3 months (MD 0.42, 95% CI -2.42-3.26). Functioning likewise did not differ post-intervention or at 3 months (standardised mean difference (SMD) 0.15, 95% CI -0.37-0.67, P = 0.58). Treatment satisfaction did not differ (one trial) or favoured the face-to-face group (one trial). CONCLUSIONS: Telehealth may be a viable alternative to the face-to-face provision of cognitive behavioural therapy for insomnia to patients with insomnia. However, the volume of the existing evidence is limited, therefore additional trials are needed, evaluating cognitive behavioural therapy for insomnia and other therapies for individuals for whom cognitive behavioural therapy for insomnia is not effective, and conducted with a wider range of populations, providers and settings.

9.
Health Expect ; 26(6): 2485-2499, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37589481

RESUMO

INTRODUCTION: We explored experiences of volunteering in Heritage at Risk (HAR) projects, intended to mitigate the deterioration to historic assets, and the relationship with wellbeing. We aimed to understand the value of HAR to volunteers' wellbeing and relationships between HAR programme characteristics such as location, asset type and type of activity. METHODS: We used a qualitative design with semi-structured interviews of a purposive sample of volunteers recruited via Historic England (HE), employing Systematic Grounded Theory involving open, axial and selective coding. FINDINGS: We interviewed 35 volunteers (18 male and 17 female) participating in 10 HAR projects. We identified six themes from the data analysis. (1) Purpose-was associated with volunteering motivations; there were some barriers to volunteering and many types of facilitators, including accessibility to local heritage sites. (2) Being-volunteers showed an appreciation and attachment to their place of residence. (3) Capacity-to learn heritage-specific skills and diversify experiences in learning new skills (life, technical and personal). (4) Sharing-community engagement, connectedness, and inclusivity captured diversity and inclusion within volunteers across age, ethnicity, ability, and gender. (5) Self-nurture-HAR volunteering created physical, psychological, and social benefits with limited risks and adverse outcomes. (6) Self-actualisation-described volunteers reflecting on their experiences. CONCLUSION: HAR volunteering was associated with positive physical, social and psychological wellbeing outcomes. The study provides an evidence base for specific wellbeing benefits of volunteering at Heritage at Risk sites, although we could not conclude that HAR project activity was the cause of increased wellbeing. PUBLIC CONTRIBUTION: Staff from HE were involved in designing the project brief. In selecting the HAR project sites, we took advice and recommendations from HE staff across all their six regional offices.


Assuntos
Motivação , Voluntários , Humanos , Masculino , Feminino , Pesquisa Qualitativa , Inglaterra , Voluntários/psicologia , Aprendizagem
10.
J Gen Intern Med ; 38(10): 2396-2404, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37231210

RESUMO

BACKGROUND: Cellulitis is a clinical diagnosis with several mimics and no gold standard diagnostic criteria. Misdiagnosis is common. This review aims to quantify the proportion of cellulitis misdiagnosis in primary or unscheduled care settings based on a second clinical assessment and describe the proportion and types of alternative diagnoses. METHODS: Electronic searches of Medline, Embase and Cochrane library (including CENTRAL) using MeSH and other subject terms identified 887 randomised and non-randomised clinical trials, and cohort studies. Included articles assessed the proportion of cellulitis misdiagnosis in primary or unscheduled care settings through a second clinical assessment up to 14 days post initial diagnosis of uncomplicated cellulitis. Studies on infants and patients with (peri-)orbital, purulent and severe or complex cellulitis were excluded. Screening and data extraction was conducted independently in pairs. Risk of bias was assessed using a modified risk of bias tool from Hoy et al. Meta-analyses were undertaken where ≥ 3 studies reported the same outcome. RESULTS: Nine studies conducted in the USA, UK and Canada, including a total of 1600 participants, were eligible for inclusion. Six studies were conducted in the inpatient setting; three were in outpatient clinics. All nine included studies provided estimates of the proportion cellulitis misdiagnosis, with a range from 19 to 83%. The mean proportion misdiagnosed was 41% (95% CI 28 to 56% for random effects model). Heterogeneity between studies was very high both statistically (I2 96%, p-value for heterogeneity < 0.001) and clinically. Of the misdiagnoses, 54% were attributed to three conditions (stasis dermatitis, eczematous dermatitis and edema/lymphedema). DISCUSSION: The proportion of cellulitis misdiagnosis when reviewed within 14 days was substantial though highly variable, with the majority attributable to three diagnoses. This highlights the need for timely clinical reassessment and system initiatives to improve diagnostic accuracy of cellulitis and its most common mimics. TRIAL REGISTRATION: Open Science Framework ( https://osf.io/9zt72 ).


Assuntos
Celulite (Flegmão) , Humanos , Celulite (Flegmão)/diagnóstico , Erros de Diagnóstico , Canadá
11.
J Gen Intern Med ; 38(8): 1894-1901, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-36971880

RESUMO

BACKGROUND: The ongoing COVID-19 pandemic has revealed gender-specific differences between general practitioners in adapting to the posed challenges. As primary care workforce is becoming increasingly female, in many countries, it is essential to take a closer look at gender-specific influences when the global health care system is confronted with a crisis. OBJECTIVE: To explore gender-specific differences in the perceived working conditions and gender-specific differences in challenges facing GPs at the beginning of the COVID-19 pandemic in 2020. DESIGN: Online survey in seven countries. PARTICIPANTS: 2,602 GPs from seven countries (Austria, Australia, Switzerland, Germany, Hungary, Italy, Slovenia). Of the respondents, 44.4% (n = 1,155) were women. MAIN MEASURES: Online survey. We focused on gender-specific differences in general practitioners' perceptions of working conditions at the beginning of the COVID-19 pandemic in 2020. KEY RESULTS: Female GPs rated their skills and self-confidence significantly lower than male GPs (f: 7.1, 95%CI: 6.9-7.3 vs. m: 7.6, 95%CI 7.4-7.8; p < .001), and their perceived risk (concerned about becoming infected or infecting others) higher than men (f: 5.7, 95%CI: 5.4-6.0 vs. m: 5.1, 95%CI: 4.8-5.5; p = .011). Among female GPs, low self-confidence in the treatment of COVID-19 patients appear to be common. Results were similar in all of the participating countries. CONCLUSIONS: Female and male GPs differed in terms of their self-confidence when dealing with COVID-19-related issues and their perceptions of the risks arising from the pandemic. To ensure optimal medical care, it is important that GPs realistically assess their own abilities and overall risk.


Assuntos
COVID-19 , Clínicos Gerais , Humanos , Masculino , Feminino , COVID-19/epidemiologia , Estudos Transversais , Pandemias , Fatores Sexuais , Condições de Trabalho
12.
J Clin Epidemiol ; 157: 112-119, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-36898508

RESUMO

OBJECTIVES: In 2019 we invented the 2-week systematic review (2weekSR) methodology, to complete full, Preferred Reporting Items for Systematic Reviews and Meta-Analyses-compliant systematic reviews in approximately 2 weeks. Since then we have continued to develop and adapt the 2weekSR methodology for completing larger and more complex systematic reviews, including less experienced or inexperienced team members. STUDY DESIGN AND SETTING: For ten 2weekSRs, we collected data on (1) systematic review characteristics; (2) systematic review teams; and (3) time to completion and publication. We have also continued to develop new tools and integrate them into the 2weekSR processes. RESULTS: The 10 2weekSRs addressed intervention, prevalence, and utilization questions, and included a mix of randomized and observational studies. Reviews involved screening from 458 to 5,471 references, and included between 5 and 81 studies. The median team size was 6. Most reviews (7/10) included team members with limited systematic review experience; three included team members with no prior experience. Reviews required a median of 11 workdays (range: 5-20) and 17 calendar days (range: 5-84) to complete; time from journal submission to publication ranged from 99 to 260 days. CONCLUSION: The 2weekSR methodology scales with review size and complexity, offering a considerable time-saving over traditionally conducted systematic reviews without relying on methodological shortcuts associated with "rapid reviews."


Assuntos
Pesquisa , Revisões Sistemáticas como Assunto
13.
Res Synth Methods ; 14(3): 370-381, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-36605026

RESUMO

Synthesizers of evidence are increasingly likely to encounter studies published in predatory journals during the evidence synthesis process. The evidence synthesis discipline is uniquely positioned to encounter novel concerns associated with predatory journals. The objective of this research was to explore the attitudes, opinions, and experiences of experts in the synthesis of evidence regarding predatory journals. Employing a descriptive survey-based cross-sectional study design, these experts were asked a series of questions regarding predatory journals to explore these attitudes, opinions, and experiences. Two hundred and sixty four evidence synthesis experts responded to this survey. Most respondents agreed with the definition of a predatory journal (86%), however several (19%) responded that this definition was difficult to apply practically. Many respondents believed that studies published in predatory journals are still eligible for inclusion into an evidence synthesis project. However, this was only after the study had been determined to be 'high-quality' (39%) or if the results were validated (13%). While many respondents could identify common characteristics of these journals, there was still hesitancy regarding the appropriate methods to follow when considering including these studies into an evidence synthesis project.


Assuntos
Publicações Periódicas como Assunto , Estudos Transversais , Inquéritos e Questionários
14.
Bull World Health Organ ; 101(1): 36-61D, 2023 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-36593777

RESUMO

Objective: To identify and summarize the evidence about the extent of overuse of medications in low- and middle-income countries, its drivers, consequences and potential solutions. Methods: We conducted a scoping review by searching the databases PubMed®, Embase®, APA PsycINFO® and Global Index Medicus using a combination of MeSH terms and free text words around overuse of medications and overtreatment. We included studies in any language published before 25 October 2021 that reported on the extent of overuse, its drivers, consequences and solutions. Findings: We screened 3489 unique records and included 367 studies reporting on over 5.1 million prescriptions across 80 low- and middle-income countries - with studies from 58.6% (17/29) of all low-, 62.0% (31/50) of all lower-middle- and 60.0% (33/55) of all upper-middle-income countries. Of the included studies, 307 (83.7%) reported on the extent of overuse of medications, with estimates ranging from 7.3% to 98.2% (interquartile range: 30.2-64.5). Commonly overused classes included antimicrobials, psychotropic drugs, proton pump inhibitors and antihypertensive drugs. Drivers included limited knowledge of harms of overuse, polypharmacy, poor regulation and financial influences. Consequences were patient harm and cost. Only 11.4% (42/367) of studies evaluated solutions, which included regulatory reforms, educational, deprescribing and audit-feedback initiatives. Conclusion: Growing evidence suggests overuse of medications is widespread within low- and middle-income countries, across multiple drug classes, with few data of solutions from randomized trials. Opportunities exist to build collaborations to rigorously develop and evaluate potential solutions to reduce overuse of medications.


Assuntos
Países em Desenvolvimento , Envio de Mensagens de Texto , Humanos , Anti-Hipertensivos
15.
J Am Chem Soc ; 145(1): 2-6, 2023 01 11.
Artigo em Inglês | MEDLINE | ID: mdl-36537723

RESUMO

The presence of a carbide ligand in the active site of nitrogenases remains an unusual example of organometallic chemistry employed by a protein. Carbide incorporation into the MFe7S9C cluster involves complex biosynthesis, but analogous synthetic methodologies are limited. Herein, we present a new synthetic strategy for incorporating carbon based bridging ligands into iron-sulfur clusters. Starting from a halide precursor, a WFe3S3 cluster displaying three terminal alkyl ligands and an open Fe3 face was prepared. Oxidation results in loss of alkane and formation of a µ3-carbyne. Characterization of these clusters and mechanistic studies are presented.


Assuntos
Proteínas Ferro-Enxofre , Ferro , Ferro/química , Ligantes , Oxirredução , Proteínas Ferro-Enxofre/química , Enxofre/química
16.
J Hum Nutr Diet ; 36(3): 1045-1067, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-36056610

RESUMO

BACKGROUND: There is little known about nutrition intervention research involving consumer co-design. The aim of this scoping review was to identify and synthesise the existing evidence on the current use and extent of consumer co-design in nutrition interventions. METHODS: This scoping review is in line with the methodological framework developed by Arksey and O'Malley and refined by the Joanna Briggs Institute using an adapted 2weekSR approach. We searched Medline, EMBASE, PsycInfo, CINAHL and Cochrane. Only studies that included consumers in the co-design and met the 'Collaborate' or 'Empower' levels of the International Association of Public Participation's Public Participation Spectrum were included. Studies were synthesised according to two main concepts: (1) co-design for (2) nutrition interventions. RESULTS: The initial search yielded 8157 articles, of which 19 studies were included (comprising 29 articles). The studies represented a range of intervention types and participants from seven countries. Sixteen studies were published in the past 5 years. Co-design was most often used for intervention development, and only two studies reported a partnership with consumers across all stages of research. Overall, consumer involvement was not well documented. No preferred co-design framework or approach was reported across the various studies. CONCLUSIONS: Consumer co-design for nutrition interventions has become more frequent in recent years, but genuine partnerships with consumers across all stages of nutrition intervention research remain uncommon. There is an opportunity to improve the reporting of consumer involvement in co-design and enable equal partnerships with consumers in nutrition research.

18.
Methods Mol Biol ; 2546: 501-508, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36127617

RESUMO

Abnormal accumulation of very-long-chain fatty acids (VLCFAs), defined as molecules with greater than 22 carbons, and branched-chain fatty acids, pristanic and phytanic acids, is characteristic of inborn errors of peroxisomal biogenesis or function. X-linked adrenoleukodystrophy, Zellweger spectrum disorders, rhizomelic chondrodysplasia punctata, and Refsum syndrome can be diagnosed biochemically by quantitation of these metabolites in plasma. Ratios of C24/C22 and C26/C22 can help improve detection of X-linked adrenoleukodystrophy. Analysis using gas-chromatography mass spectrometry (GC/MS) after acid/base hydrolysis, organic solvent extraction, and derivatization is an established method for clinical diagnostics. This chapter describes detailed steps to process plasma samples for GC/MS analysis.


Assuntos
Adrenoleucodistrofia , Adrenoleucodistrofia/diagnóstico , Adrenoleucodistrofia/metabolismo , Ácidos Graxos/metabolismo , Cromatografia Gasosa-Espectrometria de Massas , Humanos , Ácido Fitânico , Solventes
19.
BMJ Open ; 12(9): e055428, 2022 09 28.
Artigo em Inglês | MEDLINE | ID: mdl-36171042

RESUMO

OBJECTIVES: Organisations that develop clinical practice guidelines (CPGs) encourage involvement of patients and the publics in their development, however, there are no standard methodologies for doing so. To examine how CPGs report patient and public involvement (PPI), we conducted a scoping review of the evidence addressing the following four questions: (1) who are the patients and publics involved in developing the CPG?; (2) from where and how are the patients and publics recruited?; (3) at what stage in the CPG development process are the patients and publics involved? and (4) how do the patients and publics contribute their views? We also extracted data on the use of PPI reporting checklists by the included studies. DESIGN: We used the methodology developed by Arksey and O'Malley and refined by the Joanna Briggs Institute. We searched PubMed, Embase, CINAHL and PsycINFO, websites of national guideline bodies from the UK, Canada, Australia and the USA, and conducted a forward citation search. No language, date or participant demographics restrictions were applied. Data were synthesised narratively. RESULTS: We included 47 studies addressing 1 or more of the 4 questions. All included studies reported who the patient and publics involved (PPI members) were, and several studies reported PPI members from different groups. Patients were reported in 43/47 studies, advocates were reported in 22/47 studies, patients and advocates reported in 17/47 studies, and general public reported in 2/47 studies. Thirty-four studies reported from where the patients and publics were recruited, with patient groups being the most common (20/34). Stage of involvement was reported by 42/47 studies, most commonly at question identification (26/42) and draft review (18/42) stages. Forty-two studies reported how the patients contributed, most commonly via group meetings (18/42) or individual interviews. Ten studies cited or used a reporting checklist to report findings. CONCLUSIONS: Our scoping review has revealed knowledge gaps to inform future research in several ways: replication, terminology and inclusion. First, no standard approach to PPI in CPG development could be inferred from the research. Second, inconsistent terminology to describe patients and publics reduces clarity around which patients and publics have been involved in developing CPGs. Finally, the under-representation of research describing PPI in the development of screening, as opposed to treatment, CPGs warrants further attention.


Assuntos
Lista de Checagem , Austrália , Canadá , Humanos
20.
Psychol Med ; 52(14): 2852-2860, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-35959559

RESUMO

Ensuring continuity of care for patients with major depressive disorders poses multiple challenges. We conducted a systematic review and meta-analysis of randomised controlled trials comparing real-time telehealth to face-to-face therapy for individuals with depression. We searched Medline, Embase, and Cochrane Central (to November 2020), conducted a citation analysis (January 2021), and searched clinical trial registries (March 2021). We included randomised controlled trials comparing similar or identical care, delivered via real-time telehealth (phone, video) to face-to-face. Outcomes included: depression severity, quality of life, therapeutic alliance, and care satisfaction. Where data were sufficient, mean differences were calculated. Nine trials (1268 patients) were included. There were no differences between telehealth and face-to-face care for depression severity at post-treatment (SMD -0.04, 95% CI -0.21 to 0.13, p = 0.67) or at other time points, except at 9 months post-treatment (SMD -0.39, 95% CI -0.75 to -0.02, p = 0.04). One trial reported no differences in quality-of-life scores at 3- or 12-months post-treatment. One trial found no differences in therapeutic alliance at weeks 4 and 14 of treatment. There were no differences in treatment satisfaction between telehealth and face-to-face immediately post-treatment (SMD -0.14, 95% CI -0.56 to 0.28, p = 0.51) or at 3 or 12-months. Evidence suggests that for patients with depression or depression symptoms, the provision of care via telehealth may be a viable alternative to the provision of care face-to-face. However, additional trials are needed with longer follow-up, conducted in a wider range of settings, and with younger patients.


Assuntos
Transtorno Depressivo Maior , Telemedicina , Humanos , Depressão/terapia , Qualidade de Vida , Transtorno Depressivo Maior/terapia
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