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1.
Oncologist ; 2024 Jun 21.
Artigo em Inglês | MEDLINE | ID: mdl-38906704

RESUMO

INTRODUCTION: Early discontinuation of endocrine therapy (ET) is higher among patients with early breast cancer (EBC) compared to patients with metastatic hormone receptor-positive (HR+) breast cancer (MBC). In our clinical experience the reasons for this may include a significant burden of ET side effects impacting quality of life (QOL) in patients with EBC.  We hypothesized that QOL is lower in patients with HR + EBC compared to patients with HR + MBC on ET. METHODS: We conducted a cross-sectional observational study to assess QOL utilizing FACT-ES & EORTC QLQ C30 tools among patients with EBC and MBC receiving ET across 5 Irish hospitals. RESULTS: A total of 417 patients were enrolled-EBC (79% n = 331) and MBC 21% (n = 86). Using the FACT-ES, we found no difference in overall QOL by stage (139.2 vs 141, P  = .33). Patients with HR + MBC had a lower symptom burden from ET compared to HR + EBC (61.4 vs 54, P < .01). In adjusted multivariate linear regression models, there was no difference in QOL for patients with EBC and MBC receiving ET. CONCLUSIONS: There was no significant difference in overall QOL for patients with EBC and MBC. However, patients with EBC experienced more endocrine symptoms. In adjusted multivariate linear regression models, the stage did not predict QOL. Our results suggest that endocrine symptoms are significant contributors to impaired QOL for patients with EBC but the role of other determinants of QOL (eg, stage) is less clear. Future work could include the development of stage-specific QOL tools and utilization of electronic patient-reported outcomes (ePROs) to identify and manage emergent toxicities.

2.
Nat Rev Neurol ; 20(7): 426-439, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38866966

RESUMO

Anti-amyloid treatments for early symptomatic Alzheimer disease have recently become clinically available in some countries, which has greatly increased the need for biomarker confirmation of amyloid pathology. Blood biomarker (BBM) tests for amyloid pathology are more acceptable, accessible and scalable than amyloid PET or cerebrospinal fluid (CSF) tests, but have highly variable levels of performance. The Global CEO Initiative on Alzheimer's Disease convened a BBM Workgroup to consider the minimum acceptable performance of BBM tests for clinical use. Amyloid PET status was identified as the reference standard. For use as a triaging test before subsequent confirmatory tests such as amyloid PET or CSF tests, the BBM Workgroup recommends that a BBM test has a sensitivity of ≥90% with a specificity of ≥85% in primary care and ≥75-85% in secondary care depending on the availability of follow-up testing. For use as a confirmatory test without follow-up tests, a BBM test should have performance equivalent to that of CSF tests - a sensitivity and specificity of ~90%. Importantly, the predictive values of all biomarker tests vary according to the pre-test probability of amyloid pathology and must be interpreted in the complete clinical context. Use of BBM tests that meet these performance standards could enable more people to receive an accurate and timely Alzheimer disease diagnosis and potentially benefit from new treatments.


Assuntos
Doença de Alzheimer , Biomarcadores , Humanos , Doença de Alzheimer/diagnóstico , Doença de Alzheimer/sangue , Doença de Alzheimer/líquido cefalorraquidiano , Biomarcadores/sangue , Biomarcadores/líquido cefalorraquidiano , Tomografia por Emissão de Pósitrons/normas , Tomografia por Emissão de Pósitrons/métodos , Peptídeos beta-Amiloides/sangue , Peptídeos beta-Amiloides/líquido cefalorraquidiano
3.
Elife ; 122024 Feb 26.
Artigo em Inglês | MEDLINE | ID: mdl-38407224

RESUMO

The muscle synergy is a guiding concept in motor control research that relies on the general notion of muscles 'working together' towards task performance. However, although the synergy concept has provided valuable insights into motor coordination, muscle interactions have not been fully characterised with respect to task performance. Here, we address this research gap by proposing a novel perspective to the muscle synergy that assigns specific functional roles to muscle couplings by characterising their task-relevance. Our novel perspective provides nuance to the muscle synergy concept, demonstrating how muscular interactions can 'work together' in different ways: (1) irrespective of the task at hand but also (2) redundantly or (3) complementarily towards common task-goals. To establish this perspective, we leverage information- and network-theory and dimensionality reduction methods to include discrete and continuous task parameters directly during muscle synergy extraction. Specifically, we introduce co-information as a measure of the task-relevance of muscle interactions and use it to categorise such interactions as task-irrelevant (present across tasks), redundant (shared task information), or synergistic (different task information). To demonstrate these types of interactions in real data, we firstly apply the framework in a simple way, revealing its added functional and physiological relevance with respect to current approaches. We then apply the framework to large-scale datasets and extract generalizable and scale-invariant representations consisting of subnetworks of synchronised muscle couplings and distinct temporal patterns. The representations effectively capture the functional interplay between task end-goals and biomechanical affordances and the concurrent processing of functionally similar and complementary task information. The proposed framework unifies the capabilities of current approaches in capturing distinct motor features while providing novel insights and research opportunities through a nuanced perspective to the muscle synergy.


Assuntos
Músculos , Extremidade Superior
4.
Ann Surg ; 279(3): 501-509, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-37139796

RESUMO

OBJECTIVES: To develop and validate a predictive model to predict the risk of postoperative mortality after emergency laparotomy taking into account the following variables: age, age ≥ 80, ASA status, clinical frailty score, sarcopenia, Hajibandeh Index (HI), bowel resection, and intraperitoneal contamination. SUMMARY BACKGROUND DATA: The discriminative powers of the currently available predictive tools range between adequate and strong; none has demonstrated excellent discrimination yet. METHODS: The TRIPOD and STROCSS statement standards were followed to protocol and conduct a retrospective cohort study of adult patients who underwent emergency laparotomy due to non-traumatic acute abdominal pathology between 2017 and 2022. Multivariable binary logistic regression analysis was used to develop and validate the model via two protocols (Protocol A and B). The model performance was evaluated in terms of discrimination (ROC curve analysis), calibration (calibration diagram and Hosmer-Lemeshow test), and classification (classification table). RESULTS: One thousand forty-three patients were included (statistical power = 94%). Multivariable analysis kept HI (Protocol-A: P =0.0004; Protocol-B: P =0.0017), ASA status (Protocol-A: P =0.0068; Protocol-B: P =0.0007), and sarcopenia (Protocol-A: P <0.0001; Protocol-B: P <0.0001) as final predictors of 30-day postoperative mortality in both protocols; hence the model was called HAS (HI, ASA status, sarcopenia). The HAS demonstrated excellent discrimination (AUC: 0.96, P <0.0001), excellent calibration ( P <0.0001), and excellent classification (95%) via both protocols. CONCLUSIONS: The HAS is the first model demonstrating excellent discrimination, calibration, and classification in predicting the risk of 30-day mortality following emergency laparotomy. The HAS model seems promising and is worth attention for external validation using the calculator provided. HAS mortality risk calculator https://app.airrange.io/#/element/xr3b_E6yLor9R2c8KXViSAeOSK .


Assuntos
Laparotomia , Sarcopenia , Adulto , Humanos , Estudos Retrospectivos , Curva ROC , Medição de Risco
5.
PLoS One ; 18(10): e0293086, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37878634

RESUMO

BACKGROUND: Addressing violence related harm is a global public health priority. While violence is primarily managed in the criminal justice system, healthcare supports and manages those injured by violence. Emergency Departments (EDs), the primary destination for those seriously injured, have emerged as a candidate location for violence prevention initiatives. There is limited evaluation of ED-based violence prevention, and a lack of guidance for the implementation and delivery of them. Nurse-led Violence Prevention Teams (VPTs) have been developed and implemented in two EDs in Wales, UK. This protocol describes methods used in the process evaluation of these VPTs. AIM: To understand how VPTs function, how they were implemented, and mechanisms of impact, as well as the exploration of wider contextual factors influencing their function. METHODS: Adopting a critical realist approach and informed by the Medical Research Council (MRC) guidance for process evaluations, the process evaluation will employ qualitative methods to collect and analyse data: a scoping review of evidence of effectiveness that considers the causal mechanisms underpinning violence; a documentary analysis to determine operational considerations concerning the development, implementation and delivery of the VPTs; a descriptive analysis of routine ED data to characterise the prevalence of violence-related attendances in each ED; interviews with professional stakeholders (N = 60) from the violence prevention ecologies in which the VPTs are embedded. DISCUSSION: This protocol outlines a process evaluation of a novel, nurse led violence prevention intervention. Findings will be used to inform policy makers' decision making on whether and how VPTs should be used in practice in other EDs across the UK, and the extent that a single operational model should be adjusted to address the local characteristic of violence. To the authors knowledge, this is the first process evaluation of a UK-based, nurse led Emergency Department Violence Prevention Team. TRIAL REGISTRATION: Protocol registration ISRCTN: 15286575. Registered 13th March, 2023.


Assuntos
Serviço Hospitalar de Emergência , Violência , Violência/prevenção & controle , Registros , Coleta de Dados , Hospitais , Literatura de Revisão como Assunto
6.
Eur J Surg Oncol ; 49(12): 107103, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37890234

RESUMO

INTRODUCTION: Recurrence post hepatectomy for colorectal liver metastases (CRLM) occurs in 70 % of patients within two years. No established guidance on the method or intensity of follow-up currently exists. The aim of this systematic review was to summarise literature and determine whether it is possible to identify an optimal follow up regime. To this date there are no randomised prospective studies investigating this. METHODS: A systematic review was performed according to PRISMA guidelines. Outcomes included general demographics, method, frequency and duration of follow up, survival and recurrence data. Quality assessment of the papers was performed. RESULTS: Twenty-five articles published between 1994 and 2022 were included, including 9945 patients. CT was the most common imaging modality (n = 14) and CEA most common blood test (n = 11). Intensity of follow up was higher in the first two years post resection and only two papers continued follow up post 5 years resection. There was wide variation in outcome measures - Overall survival (OS) was most commonly reported. Nine papers reported OS ranging between 39 and 78.1 %. CONCLUSIONS: There is wide variation in follow up methods and outcome reporting. There is no strong evidence to support intensive follow up, and the benefits of long term follow up are also unknown due to the lack of patient centred data. High quality, prospective studies should be the focus of future research as further retrospective data is unlikely to resolve uncertainties around optimal follow up.


Assuntos
Neoplasias Colorretais , Neoplasias Hepáticas , Humanos , Seguimentos , Estudos Retrospectivos , Estudos Prospectivos , Neoplasias Colorretais/patologia , Neoplasias Hepáticas/secundário , Hepatectomia , Recidiva Local de Neoplasia/cirurgia
7.
Radiother Oncol ; 188: 109895, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37659657

RESUMO

BACKGROUND: Most radiotherapy structures contoured on CT scans during IMRT planning are defined by the ICRU, forming part of standard practice. Associated dose-volume constraints serve as parameters for dose computation algorithms to produce optimized dose maps. On the ground, however, physicists/dosimetrists routinely delineate auxiliary "non-standard" radiotherapy structures (nsRS). MATERIALS/METHODS: From 287 patients' data, five categories of nsRS were identified. Inter-center, inter-patient variability, and temporal trends in nsRS use were investigated. Relation of nsRS with topological complexity, plan quality, calculated quality assurance (QA) and expert QA, was investigated using machine learning classification. RESULTS: nsRS accounted for 19.2% of all structures. Average number of nsRS per patient was 8.92 ± 6.70. Variation coefficient across centers was > 70% for nsRS frequency. There was no effect of patient volume per center on averaged nsRS number between low, intermediate, and high-volume centers. No temporal trends in nsRS use were detected at the high-volume centers, except for an increase in 'forced-dose' nsRS (p = 3.08 × (10)^(-5)) at one center. Machine learning prediction accuracy including nsRS features were 0.70 ± 0.06 for topological complexity, 0.58 ± 0.05 for calculated QA and 0.72 ± 0.05 for expert QA. CONCLUSION: Use of nsRS is frequent but heterogeneous and should be standardized further in line with ICRU initiatives in IMRT planning. Use of nsRS should be documented with respect to the need for nsRS from dose computation algorithms of treatment planning systems and IMRT machines in terms of modulation capacity and plan robustness.

8.
Digit Health ; 9: 20552076231185428, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37426594

RESUMO

Purpose: To investigate the feasibility of implementing a remote patient monitoring system using an electronic patient-reported outcomes (ePROs) platform in a tertiary cancer center in the Republic of Ireland. Methods: Patients receiving oral chemotherapy and oncology clinicians were invited to participate in the study. Patients were asked to submit weekly symptom questionnaires through an ePRO mobile phone application (app)-ONCOpatient®. Clinical staff were invited to use the ONCOpatient® clinician interface. After 8 weeks all participants submitted evaluation questionnaires. Results: Thirteen patients and five staff were enrolled in the study. The majority of patients were female (85%) with a median age of 48 years (range 22-73). Most (92%) were enrolled over telephone requiring on average 16 minutes. Compliance with the weekly assessments was 91%. Alerts were triggered by 40% of patients who then required phone calls to aid with symptom management. At the end of study, 87% of patients reported they would use the app frequently, 75% reported that the platform met their expectations, and 25% that it exceeded their expectations. Similarly, 100% of staff reported they would use the app frequently, 60% reported that it met their expectations, and 40% that it exceeded their expectations. Conclusions: Our pilot study showed that it is feasible to implement ePRO platforms in the Irish clinical setting. Small sample bias was recognized as a limitation, and we plan to confirm our findings on a larger cohort of patients. In the next phase we will integrate wearables including remote blood pressure monitoring.

9.
Cancers (Basel) ; 15(11)2023 May 30.
Artigo em Inglês | MEDLINE | ID: mdl-37296957

RESUMO

Immunotherapy has revolutionised anti-cancer treatment in solid organ malignancies. Specifically, the discovery of CTLA-4 followed by PD-1 in the early 2000s led to the practice-changing clinical development of immune checkpoint inhibitors (ICI). Patients with lung cancer, including both small cell (SCLC) and non-small cell lung cancer (NSCLC), benefit from the most commonly used form of immunotherapy in immune checkpoint inhibitors (ICI), resulting in increased survival and quality of life. In NSCLC, the benefit of ICIs has now extended from advanced NSCLC to earlier stages of disease, resulting in durable benefits and the even the emergence of the word 'cure' in long term responders. However, not all patients respond to immunotherapy, and few patients achieve long-term survival. Patients may also develop immune-related toxicity, a small percentage of which is associated with significant mortality and morbidity. This review article highlights the various types of immunotherapeutic strategies, their modes of action, and the practice-changing clinical trials that have led to the widespread use of immunotherapy, with a focus on ICIs in NSCLC and the current challenges associated with advancing the field of immunotherapy.

10.
J Gastroenterol Hepatol ; 38(10): 1718-1733, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37366550

RESUMO

BACKGROUND AND AIM: The study aims to determine and quantify the stratified risk of recurrent pancreatitis (RP) after the first episode of acute pancreatitis in relation to etiology and severity of disease. METHODS: A systematic review and meta-analysis in compliance with PRISMA statement standards was conducted. A search of electronic information sources was conducted to identify all studies investigating the risk of RP after the first episode of acute pancreatitis. Proportion meta-analysis models using random effects were constructed to calculate the weighted summary risks of RP. Meta-regression was performed to evaluate the effect of different variables on the pooled outcomes. RESULTS: Analysis of 57,815 patients from 42 studies showed that the risk of RP after first episode was 19.8% (95% confidence interval [CI] 17.5-22.1%). The risk of RP was 11.9% (10.2-13.5%) after gallstone pancreatitis, 28.7% (23.5-33.9%) after alcohol-induced pancreatitis, 30.3% (15.5-45.0%) after hyperlipidemia-induced pancreatitis, 38.1% (28.9-47.3%) after autoimmune pancreatitis, 15.1% (11.6-18.6%) after idiopathic pancreatitis, 22.0% (16.9-27.1%) after mild pancreatitis, 23.9% (12.9-34.8%) after moderate pancreatitis, 21.6% (14.6-28.7%) after severe pancreatitis, and 6.6% (4.1-9.2%) after cholecystectomy following gallstone pancreatitis. Meta-regression confirmed that the results were not affected by the year of study (P = 0.541), sample size (P = 0.064), length of follow-up (P = 0.348), and age of patients (P = 0.138) in the included studies. CONCLUSIONS: The risk of RP after the first episode of acute pancreatitis seems to be affected by the etiology of pancreatitis but not the severity of disease. The risks seem to be higher in patients with autoimmune pancreatitis, hyperlipidemia-induced pancreatitis, and alcohol-induced pancreatitis and lower in patients with gallstone pancreatitis and idiopathic pancreatitis.


Assuntos
Pancreatite Autoimune , Cálculos Biliares , Hiperlipidemias , Pancreatite Alcoólica , Humanos , Doença Aguda , Análise de Regressão , Índice de Gravidade de Doença
11.
Am Soc Clin Oncol Educ Book ; 43: e389950, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37220324

RESUMO

For patients with non-small-cell lung cancer (NSCLC), the outcomes for patients with resectable disease are historically poor compared with other solid organ malignancies. In recent years, there have been significant advances in multidisciplinary care, which have resulted in improved outcomes. Innovations in surgical oncology include the use of limited resection and minimally invasive techniques. Recent data in radiation oncology have suggested refinements in pre- and postoperative radiation therapy, resulting in optimization of techniques in the curative setting. Finally, the success of immune checkpoint inhibitors and targeted therapies in the advanced setting has paved the way for inclusion in the adjuvant and neoadjuvant settings, resulting in recent regulatory approvals for four regimens (CheckMate-816, IMpower010, PEARLS, ADAURA). In this review, we will provide an overview of the seminal studies informing advancements in optimal surgical resection, radiation treatment, and systemic therapy for resectable NSCLC. We will summarize the key data on survival outcomes, biomarker analyses, and future directions for perioperative studies.


Assuntos
Carcinoma Pulmonar de Células não Pequenas , Neoplasias Pulmonares , Humanos , Terapia Neoadjuvante , Inibidores de Checkpoint Imunológico
12.
Langenbecks Arch Surg ; 408(1): 61, 2023 Jan 24.
Artigo em Inglês | MEDLINE | ID: mdl-36690777

RESUMO

AIM: To determine the risk of hepatic pseudoaneurysm after liver trauma in relation to the severity of liver injury. METHODS: We performed a systematic review and meta-analysis in compliance with PRISMA statement standards (Registration Number: CRD42022328834). A search of electronic information sources was conducted to identify all studies reporting the risk of hepatic pseudoaneurysm after liver trauma. The JBI assessment tool was used to assess the risk of bias of the included studies. Random-effects models were applied to calculate pooled outcome data. RESULTS: A total of 2030 patients from six studies were included. Based on the American Association for the Surgery of Trauma classification system, 21% had grade I injury; 33% grade II injury; 28% grade III injury; 12% grade IV injury and 5% grade V injury. The pooled risk of hepatic pseudoaneurysm was 1.8% (95% CI 1.1-2.5%). The risk was 0.4% (0-1.2%) in patients with grade I injury, 0.7% (0-1.7%) in patients with grade II injury; 1.5% (0.4-2.7%) in patients with grade III injury; 4.6% (1.4-7.7%) in patients with grade IV injury and 10.6% (1.8-22.9%) in patients with grade V injury. The average time between liver injury and detection of hepatic pseudoaneurysm was 6 days (95% CI 1-10) CONCLUSIONS: The risk of hepatic pseudoaneurysm after liver trauma increases as the severity of liver injury increases. Hepatic pseudoaneurysms are rare after grade I or grade II injuries, and increasingly common after grades III, IV and V injuries. We recommend routine surveillance imaging in patients with grade III to V injuries.


Assuntos
Falso Aneurisma , Ferimentos não Penetrantes , Humanos , Ferimentos não Penetrantes/cirurgia , Resultado do Tratamento , Fígado/lesões , Análise de Regressão , Estudos Retrospectivos , Escala de Gravidade do Ferimento
13.
Ir J Med Sci ; 192(2): 541-548, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35449390

RESUMO

INTRODUCTION/AIMS: There are disparities in the availability of systemic anticancer therapies (SACTs) globally. We set out to investigate the cost and reimbursement of SACTs in the United Kingdom (UK) and the Republic of Ireland (ROI) in conjunction with efficacy and licensing authority decisions in the United States (US) and the European Union (EU). METHODS: We sought data pertaining to licensing in the EU, reimbursement in ROI/UK and cost/efficacy of SACTs licensed by the Food and Drug Administration (FDA) between January 2015 and May 2021. Independent samples t tests, chi-square test and Pearson's correlation were used for statistical analysis. RESULTS: We identified that the majority of FDA-approved regimens are licensed by the European Medicines Agency (EMA) (n = 91, 67.9%). However, only a minority of these are currently reimbursed in the UK (n = 60, 45%) or the ROI (n = 28, 21%) as of the 1st of May 2021. In addition, only a minority of regimens have demonstrated a statistically significant OS benefit (n = 54, 40%). There was no association between cost of regimens and either the presence (t = 0.846, p = 0.40) or duration of OS benefit (t = - 0.84, p = 0.64). CONCLUSIONS: Our study highlights that many licensed systemic anticancer treatments are not currently reimbursed in ROI/UK. The high cost of these medicines is independent of the presence of an OS benefit. Collaboration between regulatory agencies, governments and industry partners is needed to ensure health expenditure is directed towards the most effective treatments.


Assuntos
Neoplasias , Humanos , Estados Unidos , Irlanda , Reino Unido , Neoplasias/tratamento farmacológico , Resultado do Tratamento , United States Food and Drug Administration
14.
Chemistry ; 29(13): e202203481, 2023 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-36478608

RESUMO

Understanding how charge and energy, as well as protons and hydrogen atoms, are transferred in molecular systems as a result of an electronic excitation is fundamental for understanding the interaction between ionizing radiation and biological matter on the molecular level. To localize the excitation at the atomic scale, it was chosen to target phosphorus atoms in the backbone of gas-phase oligonucleotide anions and cations, by means of resonant photoabsorption at the L- and K-edges. The ionic photoproducts of the excitation process were studied by a combination of mass spectrometry and X-ray spectroscopy. The combination of absorption site selectivity and photoproduct sensitivity allowed the identification of X-ray spectral signatures of specific processes. Moreover, charge and/or energy as well as H transfer from the backbone to nucleobases has been directly observed. Although the probability of one versus two H transfer following valence ionization depends on the nucleobase, ionization of sugar or phosphate groups at the carbon K-edge or the phosphorus L-edge mainly leads to single H transfer to protonated adenine. Moreover, our results indicate a surprising proton-transfer process to specifically form protonated guanine after excitation or ionization of P 2p electrons.


Assuntos
Hidrogênio , Oligonucleotídeos , Prótons , DNA/química , Análise Espectral
15.
Ir J Med Sci ; 192(4): 1607-1611, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-36260241

RESUMO

INTRODUCTION: Predictive testing for BRCA1 or BRCA2 allows at-risk individuals to engage with appropriate screening and treatment services if a pathogenic mutation is identified. Previous studies have shown uptake of predictive testing to most commonly range between 20% and 40% (Table 2). This represents a missed cancer prevention opportunity. Possible explanations for this low uptake include lack of disclosure of at-risk status to relatives, lack of awareness of cancer genetics services, or patient preference. The goal of the current study was to investigate the uptake of BRCA1 or BRCA2 predictive testing in an Irish population. METHODS: We performed a multicentre, retrospective analysis of 63 pedigrees from two Irish tertiary referral hospitals over a five-year period (2012-2017). Family pedigrees were reviewed to identify at-risk family members eligible for predictive BRCA1 or BRCA2 mutation testing as per international guidelines, and testing rates were determined. RESULTS: A total of 1048 eligible individuals were identified, 318 (30.4%) proceeded to BRCA1 or BRCA2 germline testing including [215 (37.5%) females and 99 males (21.5%)]. Women were significantly more likely to test than men (T = 3.7, p < .0002). Uptake of testing was significant higher amongst first-degree relatives 45% (150/323) compared to 20% (50/258) amongst second degree relatives, and 10 % (33/317) amongst more distant relatives (F = 25.32, p < 0.00001). CONCLUSIONS: Uptake of BRCA1 OR BRCA2 mutation testing in Ireland is suboptimal, particularly amongst Irish males and distant relatives. Further research is needed to identify strategies which may improve uptake within current legal and ethical frameworks.


Assuntos
Proteína BRCA1 , Proteína BRCA2 , Neoplasias , Feminino , Humanos , Masculino , Proteína BRCA1/genética , Proteína BRCA2/genética , Predisposição Genética para Doença , Testes Genéticos , Mutação , Neoplasias/genética , Estudos Retrospectivos
16.
Langenbecks Arch Surg ; 407(8): 3543-3551, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36258043

RESUMO

AIMS: To evaluate the patterns of overall survival (OS) and recurrence following surgical resection of colorectal liver metastases (CRLM). METHODS: In compliance with STROCSS guideline, a single-centre retrospective cohort study was conducted. All consecutive patients undergoing resection of CRLM between 2003 and 2019 were considered eligible for inclusion. The outcome measures included OS, recurrence-free survival (RFS), recurrence rate, time to recurrence (TTR) and longest TTR. Statistical analyses included simple descriptive statistics and Kaplan-Meier survival statistics. RESULTS: We included 486 liver resections in 472 patients. The estimated median OS and RFS were 5.1 years and 3.1 years, respectively. The probability of 1-year, 3-year, 5-year and 10-year OS was 93%, 69%, 50% and 34%, respectively. The probability of 1-year, 3-year, 5-year and 10-year RFS was 81%, 50%, 34% and 33%, respectively. Recurrence occurred in 56% (271/486) of patients, and the median TTR was 1.6 years (IQR: 0.8-2.7) with longest TTR of 4.8 years. Although there were no recurrences in the 66 patients that entered the 6th year, the 95% CI for true rate of recurrence in the population given these data is 0-5.4%. CONCLUSIONS: Our results suggest that recurrences that occur after operative management of CRLM are almost certain to occur within the first 5 years even for patients surviving longer than 5 years. This does not disprove the requirement for follow up beyond 5 years. However, based on this data, we have altered our follow up from 10 to 6 years. The need for the 6th year of follow up will be reassessed in light of further observations.


Assuntos
Neoplasias Colorretais , Neoplasias Hepáticas , Humanos , Neoplasias Colorretais/patologia , Estudos Retrospectivos , Estudos de Coortes , Seguimentos , Recidiva Local de Neoplasia/patologia , Hepatectomia , Neoplasias Hepáticas/patologia
17.
Rheumatol Adv Pract ; 6(3): rkac065, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36071947

RESUMO

Objectives: The objective of this evaluation was to assess the feasibility of implementing a fully integrated, automated, electronic patient-reported outcome measures (ePROM) system into a hospital electronic patient record (EPR; hospital-based clinical record). Additional objectives included evaluating the effect of the system on patient-reported outcome measures (PROM) completion rates and investigating the acceptability of the ePROM. Methods: The evaluation was conducted in a rheumatology clinic in a specialist children's hospital in the UK. Paper-based childhood HAQ PROMs were already used in the clinic, and an EPR was the main hospital information system. The technical feasibility of introducing the ePROM technology was assessed using a case study approach; the effect of the system on PROM completion rates was investigated using a before-after design; and acceptability was assessed using semi-structured questionnaires and a focus group. Results: An automated and integrated ePROM system was implemented successfully in April 2021. After implementation, ∼500 automated SMS text messaging invitations to complete ePROMs were sent to care-givers each month. PROM completion rates increased from 33 of 100 (33%) to 47 of 65 (72%) after the introduction of the ePROM system (χ2 = 11.51; P < 0.05). The ePROM system was highly acceptable to patients and clinical staff. Some clinical staff expressed a concern that an electronic system might represent a barrier to care for families with more limited resources. Conclusion: High levels of automation and integration with existing technology systems seemed to be key contextual factors associated with the successful implementation and adoption of the ePROM intervention in a paediatric rheumatology clinic.

18.
J Neural Eng ; 19(1)2022 02 18.
Artigo em Inglês | MEDLINE | ID: mdl-35108699

RESUMO

Objective. Current approaches to muscle synergy extraction rely on linear dimensionality reduction algorithms that make specific assumptions on the underlying signals. However, to capture nonlinear time varying, large-scale but also muscle-specific interactions, a more generalised approach is required.Approach. Here we developed a novel framework for muscle synergy extraction that relaxes model assumptions by using a combination of information and network theory and dimensionality reduction. We first quantify informational dynamics between muscles, time-samples or muscle-time pairings using a novel mutual information formulation. We then model these pairwise interactions as multiplex networks and identify modules representing the network architecture. We employ this modularity criterion as the input parameter for dimensionality reduction, which verifiably extracts the identified modules, and also to characterise salient structures within each module.Main results. This novel framework captures spatial, temporal and spatiotemporal interactions across two benchmark datasets of reaching movements, producing distinct spatial groupings and both tonic and phasic temporal patterns. Readily interpretable muscle synergies spanning multiple spatial and temporal scales were identified, demonstrating significant task dependence, ability to capture trial-to-trial fluctuations and concordance across participants. Furthermore, our framework identifies submodular structures that represent the distributed networks of co-occurring signal interactions across scales.Significance. The capabilities of this framework are illustrated through the concomitant continuity with previous research and novelty of the insights gained. Several previous limitations are circumvented including the extraction of functionally meaningful and multiplexed pairwise muscle couplings under relaxed model assumptions. The extracted synergies provide a holistic view of the movement while important details of task performance are readily interpretable. The identified muscle groupings transcend biomechanical constraints and the temporal patterns reveal characteristics of fundamental motor control mechanisms. We conclude that this framework opens new opportunities for muscle synergy research and can constitute a bridge between existing models and recent network-theoretic endeavours.


Assuntos
Movimento , Músculo Esquelético , Algoritmos , Eletromiografia/métodos , Humanos , Músculo Esquelético/fisiologia , Análise e Desempenho de Tarefas
19.
Front Psychol ; 13: 812483, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35197904

RESUMO

Despite evidence from cognitive psychology that men and women are equal in measured intelligence, gender differences in self-estimated intelligence (SEI) are widely reported with males providing systematically higher estimates than females. This has been termed the male hubris, female humility effect. The present study explored personality factors that might explain this. Participants (N = 228; 103 male, 125 female) provided self-estimates of their general IQ and for Gardner's multiple intelligences, before completing the Cattell Culture Fair IQ test as an objective measure of intelligence. They also completed the Bem Sex Role Inventory (BSRI) as a measure of sex-role identification, and measures of general and academic self-esteem. Both gender and sex-role differences were observed for SEI, with males and participants of both genders who scored high in masculinity offering higher self-estimates. By comparing estimated and observed IQ, we were able to rule out gender differences in overall accuracy but observed a pattern of systematic underestimation in females. An hierarchical multiple regression showed significant independent effects of gender, masculinity, and self-esteem. Mixed evidence was observed for gender differences in the estimation of multiple intelligences, though moderately sized sex-role differences were observed. The results offer a far more nuanced explanation for the male hubris, female humility effect that includes the contribution of sex role identification to individual and group differences.

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