bluuebunny/crossref_metadata_2025 huggingface dataset:
Open Seldinger-guided peripheral femoro-femoral cannulation technique for totally endoscopic cardiac surgery
Authors: Chen Yi , Chen Liang-wan , Dai Xiao-fu , Huang Xue-shan
Published: July 2021

Background

The cannulation technique used in totally endoscopic cardiac surgery has a significant impact on the overall prognosis of patients. However, there are no large cohort studies to discuss it. Here we report on our research of using open Seldinger-guided technique to establish femoro-femoral cardiopulmonary bypass during totally endoscopic cardiac surgery and evaluate its safety and efficacy.

Methods

The institutional database from 2017 to 2020 was retrospectively reviewed to find cases in which totally endoscopic cardiac surgery was performed. We identified 214 consecutive patients who underwent totally endoscopic cardiac surgery with peripheral femoro-femoral cannulation. All patients underwent femoral artery cannulation. Of these, 201 were cannulated in the femoral vein and 13 were cannulated in the femoral vein combined with internal jugular cannulation. The technique involves surgically exposing the femoral vessel, setting up purse-string over the vessels and then inserting a guidewire into the femoral vessel without a vascular incision, followed by exchange of the guidewire with a cannula.

Results

Surgery indications included mitral valve disease in 82.71% (177/214), atrial septal defect in 11.68% (25/214) and tricuspid regurgitation in the remaining 5.61% (12/214). Hospital survival was 98.60% (211/214). There were no cases of stroke and postoperative limb ischaemia. No femoral vessel injuries or wound infections was observed. No late pseudoaneurysms were evident.

Conclusion

The open Seldinger-guided femoro-femoral cannulation technique is effective and safe. We highly recommend this technique, given its safety, simplicity and speed under direct vision. The limited manipulation of the vessels under direct vision minimizes the risk of local complications.
Prophylactic nimodipine treatment for hearing preservation after vestibular schwannoma surgery: study protocol of a randomized multi-center phase III trial—AkniPro 2
Authors: Scheller Christian , Strauss Christian , Leisz Sandra , Hänel Pia , Klemm Ariane , Kowoll Simone , Böselt Iris , Rahne Torsten , Wienke Andreas
Published: July 2021

Background

A previously performed phase III trial on 112 subjects investigating prophylactic nimodipine treatment in vestibular schwannoma (VS) surgery showed no clear beneficial effects on preservation of facial and cochlear nerve functions, though it should be considered that protection of facial nerve function was the primary outcome. However, the risk for postoperative hearing loss was halved in the nimodipine group compared to the control group (OR 0.49; 95% CI 0.18–1.30; p = 0.15). Accordingly, this phase III extension trial investigates the efficacy and safety of prophylactic nimodipine for hearing preservation in VS surgery.

Methods

This is a randomized, multi-center, two-armed, open-label phase III trial with blinded expert review and two-stage with interim analysis. Three hundred thirty-six adults with the indication for microsurgical removal of VS (Koos I–IV) and serviceable preoperative hearing (Gardner-Robertson scale (GR) 1–3) are assigned to either the therapy (intravenous nimodipine 1–2 mg/h from the day before surgery until the fifth postoperative day and standard of care) or the control group (surgery only and standard of care). The primary endpoint of the trial is postoperative cochlear nerve function measured before discharge according to GR 1–3 versus GR 4–5 (binary). Hearing function will be determined by pre- and postoperative audiometry with speech discrimination, which will be evaluated by a blinded expert reviewer. Furthermore, patient-reported outcomes using standardized questionnaires will be analyzed.

Discussion

Prophylactic parenteral nimodipine treatment may have a positive effect on hearing preservation in VS surgery and would improve patient’s quality of life. Further secondary analyses are planned. Except for dose-depending hypotension, nimodipine is known as a safe drug. In the future, prophylactic nimodipine treatment may be recommended as a routine medication in VS surgery. VS can be considered as an ideal model for clinical evaluation of neuroprotection, since hearing outcome can be classified by well-recognized criteria. The beneficial effect of nimodipine may be transferable to other surgical procedures with nerves at risk and may have impact on basic research.

Trial registration

EudraCT 2019-002317-19, DRKS00019107. 8th May 2020.
Baidu Jieduan granules, traditional Chinese medicine, in the treatment of moderate coronavirus disease-2019 (COVID-19): study protocol for an open-label, randomized controlled clinical trial
Authors: Zhang Wen , Xie Qin , Xu Xiaoming , Sun Shuting , Fan Tian , Wu Xinxin , Qu Yao , Che Jinhua , Huang Tingrong , Li Huacheng , Zheng You , Jiang Chao , Fang Bangjiang , Zhou Shuang
Published: July 2021

Background

Currently, coronavirus disease-2019 (COVID-19) is continuously and rapidly circulating, resulting in serious and extensive effects on human health. Due to the absence of antiviral medicine for COVID-19 thus far, there is a desperate need to develop effective medicine. Traditional Chinese medicine (TCM) has been widely applied in the treatment of epidemic diseases in China, with the aim of achieving clinical efficacy and decreasing the use of antibiotics and glucocorticoids. The aim of this study was to evaluate the efficacy and safety of Baidu Jieduan granules in treating COVID-19.

Methods/design

This multicentre, open-label, randomized controlled trial will be conducted in 300 patients with COVID-19. The patients will be randomly (1:1) divided into a treatment group and a control group. All patients will receive standard therapy at the same time. Patients in the experimental group will receive Baidu Jieduan granule treatment twice a day for 14 days. The outcomes will be assessed at baseline and at 3, 5, 7 and 14 days after treatment initiation. The primary outcome will be the rate of symptom (fever, fatigue and coughing) recovery. Adverse events (AEs) will be monitored throughout the trial.

Discussion

The study will provide high-quality clinical evidence to support the efficacy and safety of Baidu Jieduan granules in the treatment of moderate COVID-19, and enrich the theory and practice of TCM in treating COVID-19.

Trial registration

Chinese Clinical Trial Registry ChiCTR2000029869. Registered on 15 February 2020
Effects of real-time feedback during decline walking on kinematic and kinetic gait parameters in a healthy population: study protocol for a randomized trial — up and down
Authors: Widhalm Klaus , Durstberger Sebastian , Putz Peter
Published: July 2021

Background

The control of the dynamic functional leg alignment (dFLA) and biomechanical load are important joint-related aspects regarding the development of osteoarthritis (OA). Research on level walking with feedback on load-related parameters has provided innovative treatment possibilities. With regard to walking on sloped surfaces, fundamental biomechanical knowledge exists. However, comprehensive data on the agreement of kinematics and kinetics of self-paced ramp versus sloped treadmill walking is lacking. Further, deeper insights into the control of the dFLA during decline walking and the usefulness of real-time feedback are missing.

Methods/design

Thirty healthy participants aged between 18 and 35 years will be included. They will complete a three-dimensional gait analysis walking self-paced up and down on a 5-m ramp with a 10° inclination. Subsequently, speed-matched to ramp-up walking and self-paced 10° incline split-belt treadmill walking will be assessed. Afterwards, the participants will be observed under four different conditions of 10° declined walking on the same treadmill (a) self-paced walking, (b) self-paced walking with an internal focus of attention, (c) self-paced walking with real-time feedback, and (d) condition c speed-matched walking. The primary outcome parameter will be the frontal knee range of motion (fKROM). Secondary outcomes include the ground reaction force loading rate, spatial-temporal parameters, as well as sagittal, frontal and transversal kinematics, and kinetics for the lower extremities.

Discussion

The findings aim at improving the understanding of the effects of real-time feedback on the control of the dFLA and lower limb loading. Following clinical practicable methods for effective feedback devices can be developed and evaluated. Additionally, the first dataset comparing kinematic and kinetic parameters for decline and incline ramp walking versus walking on an instrumented treadmill will be available for appropriate intervention planning.

Trial registration

ClinicalTrials.govNCT04763850. Prospectively registered on 21 February 2021.
The Core Outcome DEvelopment for Carrier Screening (CODECS) study: protocol for development of a core outcome set
Authors: Richardson Ebony , McEwen Alison , Newton-John Toby , Manera Karine , Jacobs Chris
Published: July 2021

Background

Reproductive genetic carrier screening is a type of genetic testing available to those planning a pregnancy, or during their first trimester, to understand their risk of having a child with a severe genetic condition. There is a lack of consensus for ‘what to measure’ in studies on this intervention, leading to heterogeneity in choice of outcomes and methods of measurement. Such outcome heterogeneity has implications for the quality and comparability of these studies and has led to a lack of robust research evidence in the literature to inform policy and decision-making around the offer of this screening. As reproductive genetic carrier screening becomes increasingly accessible within the general population, it is timely to investigate the outcomes of this intervention.

Objectives

The development of a core outcome set is an established methodology to address issues with outcome heterogeneity in research. We aim to develop a core outcome set for reproductive genetic carrier screening to clarify and standardise outcomes for research and practice.

Methods

In accordance with guidance from the COMET (Core Outcome Measures in Effectiveness Trials) Initiative, this study will consist of five steps: (i) a systematic review of quantitative studies, using narrative synthesis to identify previously reported outcomes, their definitions, and methods of measurement; (ii) a systematic review of qualitative studies using content analysis to identify excerpts related to patient experience and perspectives that can be interpreted as outcomes; (iii) semi-structured focus groups and interviews with patients who have undertaken reproductive genetic carrier screening to identify outcomes of importance to them; (iv) Delphi survey of key stakeholders, including patients, clinicians, and researchers, to refine and prioritise the list of outcomes generated from the previous steps; and (v) a virtual consensus meeting with a purposive sample of key stakeholders to finalise the core outcome set for reporting.

Discussion

This protocol outlines the core outcome set development process and its novel application in the setting of genetic testing. This core outcome set will support the standardisation of outcome reporting in reproductive carrier screening research and contribute to an evolving literature on outcomes to evaluate genetic testing and genetic counselling as health interventions.

COMET core outcome set registration

http://www.comet-initiative.org/Studies/Details/1381.
The pan HDAC inhibitor Givinostat improves muscle function and histological parameters in two Duchenne muscular dystrophy murine models expressing different haplotypes of the LTBP4 gene
Authors: Licandro Simonetta Andrea , Crippa Luca , Pomarico Roberta , Perego Raffaella , Fossati Gianluca , Leoni Flavio , Steinkühler Christian
Published: July 2021

Background

In the search of genetic determinants of Duchenne muscular dystrophy (DMD) severity, LTBP4, a member of the latent TGF-β binding protein family, emerged as an important predictor of functional outcome trajectories in mice and humans. Nonsynonymous single-nucleotide polymorphisms in LTBP4 gene associate with prolonged ambulation in DMD patients, whereas an in-frame insertion polymorphism in the mouse LTBP4 locus modulates disease severity in mice by altering proteolytic stability of the Ltbp4 protein and release of transforming growth factor-β (TGF-β). Givinostat, a pan-histone deacetylase inhibitor currently in phase III clinical trials for DMD treatment, significantly reduces fibrosis in muscle tissue and promotes the increase of the cross-sectional area (CSA) of muscles in mdx mice. In this study, we investigated the activity of Givinostat in mdx and in D2.B10 mice, two mouse models expressing different Ltbp4 variants and developing mild or more severe disease as a function of Ltbp4 polymorphism.

Methods

Givinostat and steroids were administrated for 15 weeks in both DMD murine models and their efficacy was evaluated by grip strength and run to exhaustion functional tests. Histological examinations of skeletal muscles were also performed to assess the percentage of fibrotic area and CSA increase.

Results

Givinostat treatment increased maximal normalized strength to levels that were comparable to those of healthy mice in both DMD models. The effect of Givinostat in both grip strength and exhaustion tests was dose-dependent in both strains, and in D2.B10 mice, Givinostat outperformed steroids at its highest dose. The in vivo treatment with Givinostat was effective in improving muscle morphology in both mdx and D2.B10 mice by reducing fibrosis.

Conclusion

Our study provides evidence that Givinostat has a significant effect in ameliorating both muscle function and histological parameters in mdx and D2.B10 murine models suggesting a potential benefit also for patients with a poor prognosis LTBP4 genotype.
N-staging in large cell neuroendocrine carcinoma of the lung: diagnostic value of [18F]FDG PET/CT compared to the histopathology reference standard
Authors: Hautzel Hubertus , Alnajdawi Yazan , Fendler Wolfgang P. , Rischpler Christoph , Darwiche Kaid , Eberhardt Wilfried E. , Umutlu Lale , Theegarten Dirk , Stuschke Martin , Schuler Martin , Aigner Clemens , Herrmann Ken , Plönes Till
Published: July 2021

Background

Large cell neuroendocrine carcinoma of the lung (LCNEC) is a rare entity occurring in less than 4% of all lung cancers. Due to its low differentiation and high glucose transporter 1 (GLUT1) expression, LCNEC demonstrates an increased glucose turnover. Thus, PET/CT with 2-[18F]-fluoro-deoxyglucose ([18F]FDG) is suitable for LCNEC staging. Surgery with curative intent is the treatment of choice in early stage LCNEC. Prerequisite for this is correct lymph node staging. This study aimed at evaluating the diagnostic performance of [18F]FDG PET/CT validated by histopathology following surgical resection or mediastinoscopy. N-staging interrater-reliability was assessed to test for robustness of the [18F]FDG PET/CT findings.

Methods

Between 03/2014 and 12/2020, 46 patients with LCNEC were included in this single center retrospective analysis. All underwent [18F]FDG PET/CT for pre-operative staging and subsequently either surgery (n = 38) or mediastinoscopy (n = 8). Regarding the lymph node involvement, sensitivity, specificity, accuracy, positive predictive value (PPV) and negative predictive value (NPV) were calculated for [18F]FDG PET/CT using the final histopathological N-staging (pN0 to pN3) as reference.

Results

Per patient 14 ± 7 (range 4–32) lymph nodes were resected and histologically processed. 31/46 patients had no LCNEC spread into the lymph nodes. In 8/46 patients, the final stage was pN1, in 5/46 pN2 and in 2/46 pN3. [18F]FDG PET/CT diagnosed lymph node metastasis of LCNEC with a sensitivity of 93%, a specificity of 87%, an accuracy of 89%, a PPV of 78% and a NPV of 96%. In the four false positive cases, the [18F]FDG uptake of the lymph nodes was 33 to 67% less in comparison with that of the respective LCNEC primary. Interrater-reliability was high with a strong level of agreement (κ = 0.82).

Conclusions

In LCNEC N-staging with [18F]FDG PET/CT demonstrates both high sensitivity and specificity, an excellent NPV but a slightly reduced PPV. Accordingly, preoperative invasive mediastinal staging may be omitted in cases with cN0 disease by [18F]FDG PET/CT. In [18F]FDG PET/CT cN1-cN3 stages histological confirmation is warranted, particularly in case of only moderate [18F]FDG uptake as compared to the LCNEC primary.
Can the cytokine adsorber CytoSorb® help to mitigate cytokine storm and reduce mortality in critically ill patients? A propensity score matching analysis
Authors: Scharf Christina , Schroeder Ines , Paal Michael , Winkels Martin , Irlbeck Michael , Zoller Michael , Liebchen Uwe
Published: July 2021

Background

A cytokine storm is life threatening for critically ill patients and is mainly caused by sepsis or severe trauma. In combination with supportive therapy, the cytokine adsorber Cytosorb® (CS) is increasingly used for the treatment of cytokine storm. However, it is questionable whether its use is actually beneficial in these patients.

Methods

Patients with an interleukin-6 (IL-6) > 10,000 pg/ml were retrospectively included between October 2014 and May 2020 and were divided into two groups (group 1: CS therapy; group 2: no CS therapy). Inclusion criteria were a regularly measured IL-6 and, for patients allocated to group 1, CS therapy for at least 90 min. A propensity score (PS) matching analysis with significant baseline differences as predictors (Simplified Acute Physiology Score (SAPS) II, extracorporeal membrane oxygenation, renal replacement therapy, IL-6, lactate and norepinephrine demand) was performed to compare both groups (adjustment tolerance: < 0.05; standardization tolerance: < 10%). U-test and Fisher’s-test were used for independent variables and the Wilcoxon test was used for dependent variables.

Results

In total, 143 patients were included in the initial evaluation (group 1: 38; group 2: 105). Nineteen comparable pairings could be formed (mean initial IL-6: 58,385 vs. 59,812 pg/ml; mean SAPS II: 77 vs. 75). There was a significant reduction in IL-6 in patients with (p < 0.001) and without CS treatment (p = 0.005). However, there was no significant difference (p = 0.708) in the median relative reduction in both groups (89% vs. 80%). Furthermore, there was no significant difference in the relative change in C-reactive protein, lactate, or norepinephrine demand in either group and the in-hospital mortality was similar between groups (73.7%).

Conclusion

Our study showed no difference in IL-6 reduction, hemodynamic stabilization, or mortality in patients with Cytosorb® treatment compared to a matched patient population.
Trademark infringement recognition assistance system based on human visual Gestalt psychology and trademark design
Authors: Hung Kuo-Ming , Chen Li-Ming , Chen Ting-Wen
Published: July 2021

Trademarks are common graphic signs in human society. People used this kind of graphic sign to distinguish the signs of representative significance such as individuals, organizations, countries, and groups. Under effective use, these graphic signs can bring maintenance and development resources and profits to the owner. In addition to maintenance and development, organizations that have obtained resources can further promote national and social progress. However, the benefits of these resources have also attracted the attention of unfair competitors. By imitating counterfeit trademarks that appear, unfair competitors can steal the resources of the original trademark. In order to prevent such acts of unfair competitors, the state has formulated laws to protect trademarks. In the past, there have also been researches on similar trademark searches to assist in trademark protection. Although the original trademark is protected by national laws, unfair competitors have recently used psychological methods to counterfeit the original trademark and steal its resources. Trademarks counterfeited through psychology have the characteristics of confuse consumers and do not constitute infringement under the law. Under the influence of such counterfeit trademarks, the original trademark is still not well protected. In order to effectively prevent such trademark counterfeiting through psychology, this article proposes new features based on trademark design and Gestalt psychology to assist legal judgments. These features correspond to a part of the process that is not fully understood in the human visual system and quantify them. In the experimental results, we used past cases to analyze the proposed assistance system. Discussions based on past judgments proved that the quantitative results of the proposed system are similar to the plaintiff or the judgment to determine the reasons for plagiarism. This result shows that the assistance system proposed in this article can provide visually effective quantitative data, assist the law to prevent malicious plagiarism on images by unfair competitors, and reduce the plagiarism caused by the similar design concepts of late trademark designers.
How do we measure attention? Using factor analysis to establish construct validity of neuropsychological tests
Authors: Treviño Melissa , Zhu Xiaoshu , Lu Yi Yi , Scheuer Luke S. , Passell Eliza , Huang Grace C. , Germine Laura T. , Horowitz Todd S.
Published: July 2021

We investigated whether standardized neuropsychological tests and experimental cognitive paradigms measure the same cognitive faculties. Specifically, do neuropsychological tests commonly used to assess attention measure the same construct as attention paradigms used in cognitive psychology and neuroscience? We built on the “general attention factor”, comprising several widely used experimental paradigms (Huang et al., 2012). Participants (n = 636) completed an on-line battery (TestMyBrain.org) of six experimental tests [Multiple Object Tracking, Flanker Interference, Visual Working Memory, Approximate Number Sense, Spatial Configuration Visual Search, and Gradual Onset Continuous Performance Task (Grad CPT)] and eight neuropsychological tests [Trail Making Test versions A & B (TMT-A, TMT-B), Digit Symbol Coding, Forward and Backward Digit Span, Letter Cancellation, Spatial Span, and Arithmetic]. Exploratory factor analysis in a subset of 357 participants identified a five-factor structure: (1) attentional capacity (Multiple Object Tracking, Visual Working Memory, Digit Symbol Coding, Spatial Span), (2) search (Visual Search, TMT-A, TMT-B, Letter Cancellation); (3) Digit Span; (4) Arithmetic; and (5) Sustained Attention (GradCPT). Confirmatory analysis in 279 held-out participants showed that this model fit better than competing models. A hierarchical model where a general cognitive factor was imposed above the five specific factors fit as well as the model without the general factor. We conclude that Digit Span and Arithmetic tests should not be classified as attention tests. Digit Symbol Coding and Spatial Span tap attentional capacity, while TMT-A, TMT-B, and Letter Cancellation tap search (or attention-shifting) ability. These five tests can be classified as attention tests.
Optimizing hospital-to-home transitions for older persons in rural communities: a participatory, multimethod study protocol
Authors: Fox Mary T. , Sidani Souraya , Butler Jeffrey I. , Skinner Mark W. , Macdonald Marilyn , Durocher Evelyne , Hunter Kathleen F. , Wagg Adrian , Weeks Lori E. , MacLeod Ann , Dahlke Sherry
Published: July 2021

Background

Transitional care involves time-limited interventions focusing on the continuity of care from hospital to home, to optimize patient functioning and management. Providing interventions, as part of transitional care, that optimize the functioning of older people with dementia is critical due to the small window of opportunity in which they can return to their baseline levels of functioning. Yet prior research on transitional care has not included interventions focused on functioning and did not target older people with dementia in rural communities, limiting the applicability of transitional care to this population. Accordingly, the goal of this study is to align hospital-to-home transitional care with the function-related needs of older people with dementia and their family-caregivers in rural communities.

Methods

In this multimethod study, two phases of activities are planned in rural Ontario and Nova Scotia.In phase I, a purposive sample of 15–20 people with dementia and 15–20 family-caregivers in each province will rate the acceptability of six evidence-based interventions and participate in semi-structured interviews to explore the interventions’ acceptability and, where relevant, how to improve their acceptability. Acceptable interventions will be further examined inphase II, in which a purposive sample of healthcare providers, stratified by employment location (hospital vs. homecare) and role (clinician vs. decision-maker), will (1) rate the acceptability of the interventions and (2) participate in semi-structured focus group discussions on the facilitators and barriers to delivering the interventions, and suggestions to enable their incorporation into rural transitional care. Two to three focus groups per stratum (8–10 healthcare providers per focus group) will be held for a total of 8–12 focus groups per province. Data analysis will involve qualitative content analysis of interview and focus group discussions and descriptive statistics of intervention acceptability ratings.

Discussion

Findings will (1) include a set of acceptable interventions for rural transitional care that promote older patients’ functioning and family-caregivers’ ability to support patients’ functioning, (2) identify resources needed to incorporate the interventions into rural transitional care, and (3) provide high-quality evidence to inform new transitional care practices and policies and guide future research.
Risk of Late-Onset Breast Cancer in Genetically Predisposed Women
Authors: Boddicker Nicholas J. , Hu Chunling , Weitzel Jeffrey N. , Kraft Peter , Nathanson Katherine L. , Goldgar David E. , Na Jie , Huang Hongyan , Gnanaolivu Rohan D. , Larson Nicole , Yussuf Amal , Yao Song , Vachon Celine M. , Trentham-Dietz Amy , Teras Lauren , Taylor Jack A. , Scott Christopher E. , Sandler Dale P. , Pesaran Tina , Patel Alpa V. , Palmer Julie R. , Ong Irene M. , Olson Janet E. , O'Brien Katie , Neuhausen Susan , Martinez Elena , Ma Huiyan , Lindstrom Sara , Le Marchand Loic , Kooperberg Charles , Karam Rachid , Hunter David J. , Hodge James M. , Haiman Christopher , Gaudet Mia M. , Gao Chi , LaDuca Holly , Lacey James V. , Dolinsky Jill S. , Chao Elizabeth , Carter Brian D. , Burnside Elizabeth S. , Bertrand Kimberly A. , Bernstein Leslie , Auer Paul W. , Ambrosone Christine , Yadav Siddhartha , Hart Steven N. , Polley Eric C. , Domchek Susan M. , Couch Fergus J.
Published: July 2021

PURPOSE

The prevalence of germline pathogenic variants (PVs) in established breast cancer predisposition genes in women in the general population over age 65 years is not well-defined. However, testing guidelines suggest that women diagnosed with breast cancer over age 65 years might have < 2.5% likelihood of a PV in a high-penetrance gene. This study aimed to establish the frequency of PVs and remaining risks of breast cancer for each gene in women over age 65 years.

METHODS

A total of 26,707 women over age 65 years from population-based studies (51.5% with breast cancer and 48.5% unaffected) were tested for PVs in germline predisposition gene. Frequencies of PVs and associations between PVs in each gene and breast cancer were assessed, and remaining lifetime breast cancer risks were estimated for non-Hispanic White women with PVs.

RESULTS

The frequency of PVs in predisposition genes was 3.18% for women with breast cancer and 1.48% for unaffected women over age 65 years. PVs in BRCA1, BRCA2, and PALB2 were found in 3.42% of women diagnosed with estrogen receptor (ER)–negative, 1.0% with ER-positive, and 3.01% with triple-negative breast cancer. Frequencies of PVs were lower among women with no first-degree relatives with breast cancer. PVs in CHEK2, PALB2, BRCA2, and BRCA1 were associated with increased risks (odds ratio = 2.9-4.0) of breast cancer. Remaining lifetime risks of breast cancer were ≥ 15% for those with PVs in BRCA1, BRCA2, and PALB2.

CONCLUSION

This study suggests that all women diagnosed with triple-negative breast cancer or ER-negative breast cancer should receive genetic testing and that women over age 65 years with BRCA1 and BRCA2 PVs and perhaps with PALB2 and CHEK2 PVs should be considered for magnetic resonance imaging screening.
Asthma in Youth and Early-onset Type 2 Diabetes: A Nationwide Study of 1.72 Million Israeli Adolescents
Authors: Shapiro Michael , Arbel Chen , Zucker Inbar , Balmor Gingy Ronen , Lutski Miri , Derazne Estela , Beer Zivan , Pinhas-Hamiel Orit , Mosenzon Ofri , Tzur Dorit , Afek Arnon , Tirosh Amir , Cukierman-Yaffe Tali , Gerstein Hertzel C , Rosenberg Vered , Chodick Gabriel , Raz Itamar , Twig Gilad
Published: July 2021

Background

The prevalence of both asthma and early-onset diabetes is on the rise; however, the association between them remains unclear. We examined a possible association of asthma at adolescence with type 2 diabetes in young adulthood.

Methods

This is a nationwide, population-based study of 1 718 541 Israeli adolescents (57% males; mean age 17.3 years; range 16-19 years), examined before compulsory military service between 1992 and 2016, with data linked to the Israeli National Diabetes Registry. Asthma diagnosis and severity were determined by a board-certified pulmonologist and based on spirometry tests.

Results

Type 2 diabetes developed in 58/9090 (0.64%), 507/97 059 (0.52%), 114/23 332 (0.49%), and 7095/1 589 060 (0.44%) persons with moderate-to-severe, mild, inactive, and no history of asthma, respectively, during a mean follow-up >13 years. The respective odds ratios (ORs) were 1.33 (95% CI, 1.02-1.74), 1.17 (1.06-1.28), and 1.09 (0.9-1.31), considering those without asthma history as the reference, in a model adjusted for birth year, sex, body mass index, and other sociodemographic variables. The association persisted when the analysis accounted for coexisting morbidities, and when persons without asthma, individually matched by age, sex, birth year, and body mass index were the reference. Both mild and moderate-to-severe asthma were associated with type 2 diabetes before age 35 years: ORs 1.18 (1.05-1.34) and 1.44 (1.05-2.00), respectively. The strength of the association was accentuated over time. The effect was unchanged when adjusted for oral and inhaled glucocorticoid use.

Conclusion

Adolescents with active asthma have higher risk to develop type 2 diabetes. This seems related to disease severity, independent of adolescent obesity status, apparent before age 35 years, and more pronounced in recent years.
Toward an Improved Classification of Type 2 Diabetes: Lessons From Research into the Heterogeneity of a Complex Disease
Authors: Redondo Maria J , Balasubramanyam Ashok
Published: July 2021

Context

Accumulating evidence indicates that type 2 diabetes (T2D) is phenotypically heterogeneous. Defining and classifying variant forms of T2D are priorities to better understand its pathophysiology and usher clinical practice into an era of “precision diabetes.”

Evidence Acquisition and Methods

We reviewed literature related to heterogeneity of T2D over the past 5 decades and identified a range of phenotypic variants of T2D. Their descriptions expose inadequacies in current classification systems. We attempt to link phenotypically diverse forms to pathophysiology, explore investigative methods that have characterized “atypical” forms of T2D on an etiological basis, and review conceptual frameworks for an improved taxonomy. Finally, we propose future directions to achieve the goal of an etiological classification of T2D.

Evidence Synthesis

Differences among ethnic and racial groups were early observations of phenotypic heterogeneity. Investigations that uncover complex interactions of pathophysiologic pathways leading to T2D are supported by epidemiological and clinical differences between the sexes and between adult and youth-onset T2D. Approaches to an etiological classification are illustrated by investigations of atypical forms of T2D, such as monogenic diabetes and syndromes of ketosis-prone diabetes. Conceptual frameworks that accommodate heterogeneity in T2D include an overlap between known diabetes types, a “palette” model integrated with a “threshold hypothesis,” and a spectrum model of atypical diabetes.

Conclusion

The heterogeneity of T2D demands an improved, etiological classification scheme. Excellent phenotypic descriptions of emerging syndromes in different populations, continued clinical and molecular investigations of atypical forms of diabetes, and useful conceptual models can be utilized to achieve this important goal.
Perioperative Pulmonary Optimization With Average Volume-Assured Pressure Support of a Pediatric Patient With Ullrich Congenital Muscular Dystrophy: A Case Report
Authors: Lovejoy Hannah , Geib Lauren Nicole , Walters Camila B.
Published: July 2021

Patients with preexisting respiratory compromise are at risk for perioperative respiratory failure. Adult literature has shown benefit with prophylactic postoperative use of noninvasive mechanical ventilation (NIMV). While pediatric literature has documented the increasing use of postoperative NIMV, there is no literature on prophylactic preoperative NIMV in patients with preexisting respiratory compromise. Further, surgical literature does not address preoperative prophylactic use of NIMV, as well as use of the newest modality of NIMV, average volume-assured pressure support (AVAPS). Here, we describe the first report of pre- and postoperative use of AVAPS in a pediatric patient with respiratory compromise from Ullrich disease.
Longitudinal Assessment of Quality of Life Following Molecular Testing for Indeterminate Thyroid Nodules
Authors: Schumm Max A. , Nguyen Dalena T. , Kim Jiyoon , Tseng Chi-Hong , Chow Amy Y. , Shen Na , Livhits Masha J.
Published: July 2021

Background

Molecular testing can refine the risk of malignancy in cytologically indeterminate thyroid nodules and can reduce the need for diagnostic thyroidectomy. However, quality of life (QOL) in patients mananged with molecular testing is not well studied.

Objective

We aimed to assess the QOL of patients undergoing surveillance after a benign molecular test result, or thyroidectomy after a suspicious molecular test result.

Methods

This prospective longitudinal follow-up of the Effectiveness of Molecular Testing Techniques for Diagnosis of Indeterminate Thyroid Nodules randomized trial utilized the Thyroid-Related Patient-Reported Outcome, 39-item version (ThyPro-39) to assess the QOL of patients with indeterminate cytology on thyroid fine needle aspiration (FNA) biopsy. All patients underwent molecular testing at the time of initial FNA. A mixed-effect model was used to determine changes in QOL over time.

Results

Of 252 eligible patients, 174 completed the assessment (69% response rate). Molecular test results included 72% (n = 124) benign and 28% (n = 50) suspicious. ThyPro-39 scores of benign molecular test patients were unchanged from baseline (following initial FNA and molecular test results) to 18 months of ultrasound surveillance. Baseline symptoms of goiter, anxiety, and depression were more severe for patients with suspicious compared with benign molecular test results. At a median of 8 months after thyroidectomy, suspicious molecular test patients reported improved symptoms of goiter, anxiety, and depression.

Conclusion

A benign molecular test provides sustained QOL throughout ultrasound surveillance, without worsening anxiety or depression relating to the risk of malignancy. Definitive surgery results in improvement of QOL in patients with suspicious molecular tests.
Twelve months into a feasibility trial: reflections on three experiences of public and patient involvement in research
Authors: Joyce Robert , Dwyer Christopher P. , Hynes Sinéad M.
Published: July 2021

In this Open Letter we present reflections from three different perspectives on the integration of public and patient involvement (PPI) in a research trial. We reflect on the experience of having a patient employed as a contract researcher, with no prior research experience, on a feasibility trial of cognitive rehabilitation in multiple sclerosis. This Open Letter is written by the PPI research team member with reflections from a researcher on the trial and the principal investigator. We will discuss some of the changes made and the impacts that have been resulted from of PPI input into the trial. We focus on PPI involvement in participant recruitment, the development of trial material, integration of PPI along the research cycle, and collaboration. We hope that this Open Letter will encourage principal investigators and groups to include PPI members as part of the research team and help patients and members of the public understand what the experience of PPI members is like.
Exploring the co-involvement of disabled adolescents in participatory action research; protocol for a critical interpretative synthesis
Authors: McDonald Fiona , Robinson Katie , Gallagher Aoife L. , Pettigrew Judith
Published: July 2021

Background: Participatory action research (PAR) provides an opportunity for academic researchers and adolescents to co-conduct research within an area of shared interest. Reciprocal learning occurs as co-researchers acquire research skills and knowledge, and academic researchers gain understanding of the issue being examined, from the perspective of those with lived experience. All members of the research team have a shared responsibility for the research and decision-making processes. PAR has predominantly involved adults as co-researchers. However, in recent years more effort has been made to co-conduct research with adolescents. The aim of this review is to interrogate the practices of academic researchers employing a PAR approach when working along-side disabled adolescents.

Methods/design: A critical interpretive synthesis (CIS) will be conducted, allowing for a diverse range of evidence to be drawn from. A systematic search of nine databases, from 1990 onwards, will be conducted first. Reference checking will occur to elicit further relevant data. Following screening, further purposive sampling will be completed to facilitate the development of concepts and theory in line with the on-going analysis and synthesis of findings. Data analysis will involve interpretation of included papers in relation to the principles of PAR and a ‘best-practice’ framework will be developed. During analysis particular emphasis will be given to the identification of potential social barriers to the participation of disabled adolescents in PAR.   

Discussion: PAR is widely employed but little is known about its use when working with disabled adolescents. This current CIS will critically question the current practices of academic researchers employing PAR when working along-side disabled adolescents and future research through the best practice framework we will develop.
Wolfram Mathematica Functional Possibilities for Curved Lines and Surfaces Visualization
Authors: Ignat'ev S. , Folomkin A. , Muratbakeev E.
Published: July 2021

The paper states that the current conditions in which the education system is located, and the rapid development of IT require constant improvement of methodological materials, taking into account the full capacity of the current software. Examples of programs necessary for preparation of methodological materials for high-quality classes are given. The purpose of the paper was to identify the Wolfram Mathematica didactic potential when conducting classes in the disciplines of the geometric and graphic profile at a technical high educational institution. In this paper has been performed analysis of literature sources both domestic and foreign ones on the Wolfram Mathematica system application in science and teaching of various disciplines. It has been shown that the program use scope is very wide, in fact, it is comprehensive and requires additional and in-depth study. Examples of Wolfram Mathematica using in mathematics, physics, chemistry, geometry, robotics, virology, and the humanities are given. In the paper have been provided examples for pedagogical design of simulation models for an electronic course on descriptive geometry in the Moodle system. An example of code written in the Wolfram Mathematica is provided. Interactive models developed during the design are presented, which allow the user to change the constructed curves and surfaces’ parameters. Have been defined some functional capabilities of the system, and has been revealed the Wolfram Mathematica didactic potential for teaching geometric and graphic disciplines. Have been considered other authors’ similar models, which can be used in the educational process to increase the clarity of the material presented in the classroom. In conclusion it is pointed out that interactive visualization in the "Descriptive Geometry" discipline, together with classical working practices, significantly enriches the content of geometric education.
Atividade física para crianças até 5 anos: Guia de Atividade Física para a População Brasileira
Authors: Silva Larissa Rosa da , Hardman Carla Menêses , Martins Clarice Lucena , Guerra Paulo Henrique , Souza Filho Anastacio Neco de , Queiroz Daniel da Rocha , Umpierre Daniel , Wanderley Junior Rildo de Souza , Cavalcante Fabiana Vieira Santos Azevedo , Sandreschi Paula Fabricio , Hallal Pedro Curi , Barros Mauro Virgilio Gomes de
Published: July 2021

Este artigo descreve o processo de construção das recomendações de atividade física para crianças de até cinco anos incluídas no Guia de Atividade Física para a População Brasileira. O desenvolvimento destas recomendações tomou por base as diretrizes propostas pela Organização Mundial da Saúde em 2019. Complementarmente, buscou-se suporte teórico nas seguintes estratégias: 1-revisão de escopo, conduzida de modo a atualizar o corpo de evidências acerca dos correlatos de determinantes da atividade física em crianças de até cinco anos; 2-síntese de guias nacionais de atividade física; 3-escuta com pais e professores, a fim de identificar o grau de dificuldade destes em entenderem as recomendações contidas na proposta apresentada pela Organização Mundial de Saúde, além de barreiras e estratégias para maior envolvimento das crianças em atividades físicas; e, 4-consulta pública. Todas as ações foram desenvolvidas no período de maio a dezembro de 2020, por um grupo de trabalho constituído por pesquisadores com experiência na temática e representantes do Ministério da Saúde. Como resultado, foram incluídas no Guia um total de 35 recomendações, sendo 10 relacionadas aos benefícios, quatro à dose, sete aos tipos de atividades, sete às orientações para prática e outras sete relacionadas à redução de comportamento sedentário. Quando pertinente e possível, estas recomendações foram diferenciadas para crianças do nascimento até um ano de vida, de um e dois anos e de três a cinco anos. A mensagem principal é de que qualquer atividade física é melhor do que nenhuma e de que o comportamento sedentário deve ser reduzido.
Atividade física para gestantes e mulheres no pós-parto: Guia de Atividade Física para a População Brasileira
Authors: Mielke Gregore Iven , Tomicki Camila , Botton Cíntia Ehlers , Cavalcante Fabiana Vieira Santos Azevedo , Borges Grasiely Faccin , Galliano Leony Morgana , Sandreschi Paula Fabricio , Pinto Stephanie Santana , Bezerra Thaynã Alves , Hallal Pedro Curi , Autran Roseanne
Published: July 2021

Este artigo tem por objetivo apresentar as recomendações de atividade física para gestantes e mulheres no pós-parto desenvolvidas para o Guia de Atividade Física para a População Brasileira. Para isso, utilizou-se uma abordagem de métodos mistos que incluiu quatro etapas: 1) levantamento das diretrizes internacionais mais recentes; 2) revisão narrativa de literatura sobre efeitos da prática de atividade física durante a gestação para a saúde da mulher e do bebê; 3) escuta com gestantes, mulheres no pós-parto, profissionais e pesquisadores; 4) consulta pública. As evidências sumarizadas suportam que a prática de atividade física durante a gestação e no período pós-parto é segura, traz benefícios à saúde da mãe e do bebê, e reduz os riscos de algumas complicações relacionadas à gestação. Gestantes devem ser incentivadas a realizar pelo menos 150 minutos por semana de atividade física de intensidade moderada. Gestantes com contraindicações devem procurar auxílio de profissionais qualificados. Em alguns casos, a prática de atividade física durante a gestação não é recomendada. Este documento servirá como ferramenta para nortear profissionais de saúde que atuam com gestantes e mulheres no pós-parto e irá orientar a população-alvo quanto a prática de atividade física.
Cardiology referrals before and during the COVID-19 pandemic: a health service evaluation
Authors: Kwok Chun Shing , Bennett Jessica , Curry Sonia , Jackson Debbie , Burke Hayley , Beeston Michelle , Powell Elizabeth , Gunter Bob , Cripps James , Jones Angela , Bethell Helen , Fogarty Lisa , Thomas Diane , Chell Sarah , Morgan-Smith Dot , Beynon Rhys
Published: July 2021

Background/Aims

The COVID-19 pandemic has resulted in unprecedented changes to healthcare services. This study aimed to evaluate the impact of the COVID-19 pandemic on referrals to cardiology services in a tertiary hospital.

Methods

Royal Stoke University Hospital has a cardiac assessment nurse team that provides rapid access to specialist cardiology opinion. All referrals are recorded on a database, which was used to determine how COVID-19 affected the number and types of referrals to cardiology during March–September 2019 and March–September 2020.

Results

A total of 12 447 referrals were made to the cardiac assessment nurse teams over the evaluation period. Compared to the average number of referrals across all months, there was a decline of 10.5%, 31.2% and 18.5% during March, April and May 2019 respectively. Comparing 2020 to 2019, there were more 999 calls (17.7% vs 15.7%) and accident and emergency referrals (46.5% vs 45.0%), and fewer interhospital referrals (16.0% vs 19.6%). In terms of advice provided for the 999 referrals, a greater number were advised to go to the accident and emergency department (10.5% vs 0%) and direct phone advice provided to those in other settings increased (11.7% vs 0.1%) in 2020.

Conclusions

The COVID-19 pandemic was associated with a reduction in the number of overall referrals to cardiology, while also demonstrating a shift towards more advice to attend the accident and emergency department for assessment or direct phone advice being provided about management in the community.
Journal scan
Authors: Welyczko Nikki
Published: July 2021

A brief overview of recently published articles on gastroenterology, hepatology and stoma care
The impact of chemotherapy on skin health in relation to stoma care
Authors: Goodey Ann
Published: July 2021

Between 30% and 40% of patients diagnosed with colorectal cancer go on to have adjuvant chemotherapy. Although patients have a dedicated oncology team throughout their chemotherapy, they often look to their stoma care nurse for advice on peristomal skin complications. Therefore, stoma care nurses require knowledge and understanding of the actions of chemotherapy and its potential effects on skin health. This article aims to prompt discussion and improve awareness of the impact of chemotherapy on skin health in relation to stoma care. This overview of commonly used chemotherapy drugs is intended to develop an improved understanding of the types available, their pharmacological action and their implications for skin health.
Plugging gaps in the system: hepatitis C follow-up from the prison to the community
Authors: Casley Iona
Published: July 2021

Iona Casley explains how HCV Action's ‘Follow Me’ programme has provided continuity of care for people in prisons who are affected by the hepatitis C virus