bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in
TNNI3
and
TNNT2
That Are Common in Chinese Patients
Authors: Pua Chee Jian , Tham Nevin , Chin Calvin W.L. , Walsh Roddy , Khor Chiea Chuen , Toepfer Christopher N. , Repetti Giuliana G. , Garfinkel Amanda C. , Ewoldt Jourdan F. , Cloonan Paige , Chen Christopher S. , Lim Shi Qi , Cai Jiashen , Loo Li Yang , Kong Siew Ching , Chiang Charleston W.K. , Whiffin Nicola , de Marvao Antonio , Lio Pei Min , Hii An An , Yang Cheng Xi , Le Thu Thao , Bylstra Yasmin , Lim Weng Khong , Teo Jing Xian , Padilha Kallyandra , Silva Gabriela V. , Pan Bangfen , Govind Risha , Buchan Rachel J. , Barton Paul J.R. , Tan Patrick , Foo Roger , Yip James W.L. , Wong Raymond C.C. , Chan Wan Xian , Pereira Alexandre C. , Tang Hak Chiaw , Jamuar Saumya Shekhar , Ware James S. , Seidman Jonathan G. , Seidman Christine E. , Cook Stuart A. 
Published: August 2020

Background:
To assess the genetic architecture of hypertrophic cardiomyopathy (HCM) in patients of predominantly Chinese ancestry.

Methods:
We sequenced HCM disease genes in Singaporean patients (n=224) and Singaporean controls (n=3634), compared findings with additional populations and White HCM cohorts (n=6179), and performed in vitro functional studies.

Results:

Singaporean HCM patients had significantly fewer confidently interpreted HCM disease variants (pathogenic/likely pathogenic: 18%,
P
<0.0001) but an excess of variants of uncertain significance (24%,
P
<0.0001), as compared to Whites (pathogenic/likely pathogenic: 31%, excess of variants of uncertain significance: 7%). Two missense variants in thin filament encoding genes were commonly seen in Singaporean HCM (TNNI3:p.R79C, disease allele frequency [AF]=0.018; TNNT2:p.R286H, disease AF=0.022) and are enriched in Singaporean HCM when compared with Asian controls (TNNI3:p.R79C, Singaporean controls AF=0.0055,
P
=0.0057, genome aggregation database-East Asian AF=0.0062,
P
=0.0086; TNNT2:p.R286H, Singaporean controls AF=0.0017,
P
<0.0001, genome aggregation database-East Asian AF=0.0009,
P
<0.0001). Both these variants have conflicting annotations in ClinVar and are of low penetrance (TNNI3:p.R79C, 0.7%; TNNT2:p.R286H, 2.7%) but are predicted to be deleterious by computational tools. In population controls, TNNI3:p.R79C carriers had significantly thicker left ventricular walls compared with noncarriers while its etiological fraction is limited (0.70 [95% CI, 0.35–0.86]) and thus TNNI3:p.R79C is considered variant of uncertain significance. Mutant TNNT2:p.R286H iPSC-CMs (induced pluripotent stem cells derived cardiomyocytes) show hypercontractility, increased metabolic requirements, and cellular hypertrophy and the etiological fraction (0.93 [95% CI, 0.83–0.97]) support the likely pathogenicity of TNNT2:p.R286H.

Conclusions:

As compared with Whites, Chinese HCM patients commonly have low penetrance risk alleles in
TNNT2
or
TNNI3
but exhibit few clinically actionable HCM variants overall. This highlights the need for greater study of HCM genetics in non-White populations.
Evaluating the Credibility of Downscaling: Integrating Scale, Trend, Extreme, and Climate Event into a Diagnostic Framework
Authors: Sun Fengyun , Mejia Alfonso , Sharma Sanjib , Zeng Peng , Che Yue 
Published: August 2020

AbstractBecause downscaling tools are needed to support climate change mitigation and adaptation practices, the guarantee of their credibility is of vital importance. To evaluate downscaling results, one needs to select a set of effective and nonoverlapping indices that reflect key system attributes. However, this subject is still insufficiently researched. With this study, we propose a diagnostic framework that evaluates the credibility of precipitation downscaling using five different attributes: spatial, temporal, trend, extreme, and climate event. A daily variant of the bias-corrected spatial downscaling approach is used to downscale daily precipitation from the GFDL-ESM2G climate model at 148 stations in the Yangtze River basin in China. Results prove that this framework is effective in systematically evaluating the performance of downscaling across the Yangtze River basin in the context of climate change and exacerbating climate extremes. Moreover, results also indicate that the downscaling approach adopted in this study yields good performance in correcting spatiotemporal bias, preserving trends, approximating extremes, and characterizing climate events across the Yangtze River basin. The proposed framework can be beneficial to planners and engineers facing issues relevant to climate change assessment.
Time-Resolved Luminescence Properties of Laser-Fabricated Nano-diamonds
Authors: Hao Juan , Pan Lingyun , An Minghui , Dai Yunzhi , Gao Bingrong 
Published: August 2020

AbstractIn the study, well-crystallized nano-diamonds with an average size of 3.8 nm are obtained via femtosecond laser ablation. Both steady-state and transient luminescence are observed. The luminescence peaks of nano-diamonds shift from 380 to 495 nm when the excitation wavelength changes from 280 to 420 nm. After passivation by polyethylene glycol-400N, the surface of nano-diamonds is significantly oxidized, which is verified by Raman and UV-Vis absorption spectra. Furthermore, there is no change in all the luminescence wavelengths, although the maximum intensity increases by 10 times. Time-resolved luminescence spectra reveal that trapping states can be modified by surface passivation, and this leads to stronger luminescence with a longer lifetime.
Admission fasting plasma glucose is associated with in-hospital outcomes in patients with acute coronary syndrome and diabetes: findings from the improving Care for Cardiovascular Disease in China - Acute Coronary Syndrome (CCC-ACS) project
Authors: Ye Nan , Yang Lijiao , Wang Guoqin , Bian Weijing , Xu Fengbo , Ma Changsheng , Zhao Dong , Liu Jing , Hao Yongchen , Liu Jun , Yang Na , Cheng Hong ,   on behalf of the CCC-ACS
Published: August 2020

Abstract
Background
The discrepancy between glycosylated hemoglobin (HbA1c) and fasting plasma glucose (FPG) in clinical practice may be related to factors such as acute stress, renal dysfunction, and anemia, and its relationship with in-hospital outcomes is uncertain. The aim of this study was to investigate the association between the type of discrepancy between HbA1c and FPG and in-hospital outcomes in patients with acute coronary syndrome (ACS) and diabetes.

Methods
The Improving Care for Cardiovascular Disease in China - Acute Coronary Syndrome (CCC-ACS) project is a national, hospital-based quality improvement project with an ongoing database. Patients with ACS, diabetes and complete HbA1c and FPG values at admission were included. The consistent group included patients with HbA1c < 6.5% and FPG < 7.0 mmol/L or HbA1c ≥ 6.5% and FPG ≥ 7.0 mmol/L. The discrepancy group included patients with HbA1c ≥ 6.5% and FPG < 7.0 mmol/L (increased HbA1c group) or HbA1c < 6.5% and FPG ≥ 7.0 mmol/L (increased FBG group).

Results
A total of 7762 patients were included in this study. The numbers of patients in the consistent and discrepancy groups were 5490 and 2272 respectively. In the discrepancy group, increased HbA1c accounted for 77.5% of discrepancies, and increased FPG accounted for 22.5% of discrepancies. After adjusting for confounders, patients in the increased FPG group had a 1.6-fold increased risk of heart failure (OR, 1.62; 95% CI, 1.08–2.44), a 1.6-fold increased risk of composite cardiovascular death and heart failure (OR, 1.63; 95% CI, 1.09–2.43), and a 1.6-fold increased risk of composite major adverse cardiovascular and cerebrovascular events (MACCEs) and heart failure (OR, 1.56; 95% CI, 1.08–2.24) compared to patients in the increased HbA1c group.

Conclusions
Patients with an increased FPG but normal HbA1c had a higher risk of in-hospital adverse outcomes than those with increased HbA1c but normal FPG. This result may indicate that when HbA1c and FPG are inconsistent in patients with ACS and diabetes, the increased FPG that may be caused by stress hyperglycemia may have a more substantial adverse effect than increased HbA1c, which may be caused by chronic hyperglycemia. These high-risk patients should be given more attention and closer monitoring in clinical practice.

Trial registry
Clinicaltrial.gov, NCT02306616. Registered 29 November 2014.
Cooperation networks of ambulatory health care providers: exploration of mechanisms that influence coordination and uptake of recommended cardiovascular care (ExKoCare): a mixed-methods study protocol
Authors: Arnold Christine , Hennrich Patrick , Koetsenruijter Jan , van Lieshout Jan , Peters-Klimm Frank , Wensing Michel 
Published: August 2020

Abstract
Background
As the number of elderly and multimorbid patients increases, healthcare has become more complex. This requires good coordination of treatment and care given the various health care professionals involved (e.g. general practitioners, medical specialists, physicians’ assistants). Lack of coordination jeopardizes seamless, evidence-based treatment and care, and eventually reduces clinical effectiveness. The aim of the study is a) to describe and explore information transfer and interprofessional collaboration in ambulatory cardiac care, b) to describe and explore the role of provider networks from the perspective of patients and providers, focusing on healthcare coordination and the uptake of recommended practices.

Methods
Two related studies are planned: a) an observational study of healthcare provider networks, involving 600 patients with chronic (atherosclerosis-related) cardiovascular disease from 40 general practices and up to 320 healthcare providers (general practitioners, medical specialist, physicians’ assistants), and b) a qualitative interview study with up to 80 healthcare professionals and patients. Furthermore, we will analyse claims data of a large German health insurer to explore provider networks in ambulatory cardiac care.

Discussion
The project aims to provide insight into factors, processes and mechanisms of information transfer and interprofessional collaboration, which affect seamless, evidence-based healthcare practice. This will contribute to the design of strategies for improving health care practice and to the development of measures of coordination for future research.

Trial registration
We registered the study prospectively on 7 November 2019 at the German Clinical Trials Register (DRKS, www.drks.de) under ID no. DRKS00019219.
Socioeconomic status and barriers for contacting the general practitioner when bothered by erectile dysfunction: a population-based cross-sectional study
Authors: Rasmussen Sanne , Balasubramaniam Kirubakaran , Jarbøl Dorte Ejg , Søndergaard Jens , Haastrup Peter Fentz 
Published: August 2020

Abstract
Background
Erectile dysfunction (ED) is common and impacts psychosocial wellbeing negatively. Many do not seek medical attention and several barriers for healthcare seeking with ED exist. Little is known about the association between socioeconomic characteristics of the patient and barriers for healthcare-seeking for men bothered by ED.
The objectives of the study were 1) to estimate the proportion of men bothered by ED, who do not contact the GP, 2) to analyse the frequencies of selected barriers for healthcare seeking and 3) to analyse associations between socioeconomic factors and barriers for contacting the GP.

Methods
Data derive from a nationwide survey of symptom experiences among 100,000 randomly selected individuals aged 20 years and above. The questionnaire comprises, among other, questions about ED. This study focuses on men who reported bothersome ED and further reported, that they did not contact a GP regarding the symptom. Questions addressing barriers regarding GP contact included embarrassment, worrying about wasting the doctor’s time, being too busy, and worrying about what the doctor might find. Information about socioeconomic characteristics was obtained from Statistics Denmark.

Results
A total of 4072 men (18.3%) reported that they had experienced ED within the past four weeks. Of those, 2888 (70.9%) were categorized as having bothersome ED. In the group of men with bothersome ED 1802 (62.4%) did not contact the GP and 60.5% reported barriers for GP-contact. Of the reported barriers, the most frequent was ‘being too embarrassed’ (29.7%). In general, respondents in the older age groups were less likely to report embarrassment, business and worrying what the doctor might find. Respondents with highest attained educational level were less likely to report embarrassment and worrying.

Conclusion
Nearly two third of the respondents with bothersome ED had not contacted their GP. More than half of those reported barriers towards GP contact with embarrassment as the most frequent barrier. In general, respondents in the older age groups and with high educational level were less likely to report barriers.
Experiences of participation in bereavement groups from significant others’ perspectives; a qualitative study
Authors: Näppä Ulla , Björkman-Randström Kerstin 
Published: August 2020

AbstractBackgroundWhen death ends a life, the impact of caring for person who suffered a period of illness or disease continues for significant others who are left to grieve. They should be offered support to avoid complicated grief. This can be provided in different ways and individually or in groups. This study aims to describe significant others’ experiences of participation in bereavement groups.MethodsTen bereavement groups that each met five times offered support for the significant others of deceased loved ones who had been cared for by a palliative-care team. After the five meetings, the grieving members (n = 46) completed written comments about the role of the groups; they also commented one year after participating (n = 39). Comments were analyzed with qualitative content analysis with a directed approach using the theory of a good death according to the 6S’s: self-image, self-determination, social relationships, symptom control, synthesis and summation, and surrender.ResultsBereavement groups were found to be a source for alleviating grief for some significant others, but not all experienced relief. Moreover, grief was found to persist during participation. Another finding involved the impact of the role of the palliative home-care team on bereavement support. To evaluate the experience of participating in a bereavement group, the use the 6S’s as a model was a strength of the analysis. Bereavement groups could enhance the self and offer relief from grief. Participation was described as social relationships that offered a sense of coherence and understanding in grief. The effects of participation were more meaningful close to the loss and could lose efficacy over time. Bereavement support provided before a loved one’s death was seen as valuable.ConclusionOverall, the bereavement groups eased the grief of significant others close to the death of their loved one. However, moving forward, several of the significant others were not sure that their participation eased their grief. To identify persons who may remain in a state of complicated grief, a routine of planned contacts with the bereaved should begin before death and be followed up later than six months after the death of a loved one.
Breast and prostate cancers harbor common somatic copy number alterations that consistently differ by race and are associated with survival
Authors: Chen Yalei , Sadasivan Sudha M. , She Ruicong , Datta Indrani , Taneja Kanika , Chitale Dhananjay , Gupta Nilesh , Davis Melissa B. , Newman Lisa A. , Rogers Craig G. , Paris Pamela L. , Li Jia , Rybicki Benjamin A. , Levin Albert M. 
Published: August 2020

Abstract
Background
Pan-cancer studies of somatic copy number alterations (SCNAs) have demonstrated common SCNA patterns across cancer types, but despite demonstrable differences in aggressiveness of some cancers by race, pan-cancer SCNA variation by race has not been explored. This study investigated a) racial differences in SCNAs in both breast and prostate cancer, b) the degree to which they are shared across cancers, and c) the impact of these shared, race-differentiated SCNAs on cancer survival.

Methods
Utilizing data from The Cancer Genome Atlas (TCGA), SCNAs were identified using GISTIC 2.0, and in each tumor type, differences in SCNA magnitude between African Americans (AA) and European Americans (EA) were tested using linear regression. Unsupervised hierarchical clustering of the copy number of genes residing in race-differentiated SCNAs shared between tumor types was used to identify SCNA-defined patient groups, and Cox proportional hazards regression was used to test for association between those groups and overall/progression-free survival (PFS).

Results
We identified SCNAs that differed by race in breast (n = 58 SCNAs; permutation p < 10− 4) and prostate tumors (n = 78 SCNAs; permutation p = 0.006). Six race-differentiated SCNAs common to breast and prostate found at chromosomes 5q11.2-q14.1, 5q15-q21.1, 8q21.11-q21.13, 8q21.3-q24.3, 11q22.3, and 13q12.3-q21.3 had consistent differences by race across both tumor types, and all six were of higher magnitude in AAs, with the chromosome 8q regions being the only amplifications. Higher magnitude copy number differences in AAs were also identified at two of these race-differentiated SCNAs in two additional hormonally-driven tumor types: endometrial (8q21.3-q24.3 and 13q12.3-q21.3) and ovarian (13q12.3-q21.3) cancers. Race differentiated SCNA-defined patient groups were significantly associated with survival differences in both cancer types, and these groups also differentiated within triple negative breast cancers based on PFS. While the frequency of the SCNA-defined patient groups differed by race, their effects on survival did not.

Conclusions
This study identified race-differentiated SCNAs shared by two related cancers. The association of SCNA-defined patient groups with survival demonstrates the clinical significance of combinations of these race-differentiated genomic aberrations, and the higher frequency of these alterations in AA relative to EA patients may explain racial disparities in risk of aggressive breast and prostate cancer.
Developing co-funded multi-sectoral partnerships for chronic disease prevention: a qualitative inquiry into federal governmental public health staff experience
Authors: Johnston Lee M. , Goldsmith Laurie J. , Finegood Diane T. 
Published: August 2020

Abstract
Background
Multi-sectoral partnerships (MSPs) are frequently cited as a means by which governments can improve population health while leveraging the resources and expertise of the private and non-profit sectors. As part of their efforts in this area, the Public Health Agency of Canada (the Agency) introduced a novel funding programme requiring applicants to procure matched resources from private sources to support large-scale interventions for chronic disease prevention. The current literature on MSPs is limited in its applicability to this model of multi-sectoral engagement. The purpose of this study was to explore the experiences of Agency staff working with potential partners to develop programme applications, such that we might identify lessons from adopting this type of partnership approach.

Methods
Semi-structured interviews were conducted with the 12 staff working in the MSP programme. Interviews were recorded, transcribed and analysed using thematic analysis. Preliminary themes were used to inform follow up focus-groups sessions. A second round of analysis was conducted guided by a coding paradigm focused on understanding process.

Results
We identified “experiencing uncertainty” to be a central concept in participants’ accounts of the MSP process, related specifically to the MSP programme’s novel conditions, shifts that occurred in sectoral roles and demands for new capacities. In response, Agency staff employed strategies to clarify partner interests, build trust in inter-sectoral relationships, and support internal and partner capacity. Outcomes associated with this process include impacts on trust between the Agency and potential partners, a deeper understanding of other sectors, and programme adaptations and refinements to address challenges related to the programme model.

Conclusions
The co-funding model employed by the Agency is a potentially popular one for government bodies wanting to leverage funding from private sector sources. Our study identifies the potential challenges that can occur under this model. Some challenges are related to addressing material conditions related to partner capacity, whereas other challenges speak to deeper and more difficult to address concerns regarding trust and alignment of motivations and interests between partners. Future research exploring the challenges associated with specific models of MSP engagement is necessary to inform approaches to addressing complex problems through collaborative efforts.
Evaluation of the analgesic effect of vertebral cancellous bone infiltration anaesthesia during vertebroplasty
Authors: Zhang Zhaofei , Jiao Feng , Feng Yonghui , Xie Chunliang , Qin Fengwei , Zhang Sineng , Liu Donghua , Tang Wang 
Published: August 2020

Abstract
Objective
To evaluate the analgesic effect of vertebral cancellous bone infiltration anaesthesia during percutaneous vertebroplasty (PVP).

Methods
Patients treated with vertebral cancellous bone infiltration anaesthesia (intervention group) or local anaesthesia alone (control group) during PVP at our institution during 2016–2018 were reviewed. The visual analogue scale (VAS) score before the operation, during establishment of the puncture channel, during pressure changes in the vertebral body (e.g., when removing or inserting pushers or needle cores), during bone cement injection, immediately after the operation, and at 2 h and 1 day postoperatively were compared between the groups. The patient’s satisfaction with the operation was recorded and compared between groups.

Results
A total of 112 patients were enrolled (59 cases in the intervention group and 53 cases in the control group). There was no difference in the VAS score between the groups before the operation or during establishment of the intraoperative puncture channel (P > 0.05). The VAS score in the intervention group was significantly lower than that in the control group during pressure changes in the vertebral body (removal or insertion of puncture needle cores or pushers) and bone cement injection (P < 0.05). Immediately after the operation and at 2 h postoperatively, the pain in the intervention group was also significantly lower than that in the control group (P < 0.05), but there was no significant difference between the groups at 1 day postoperatively (P > 0.05). The patient satisfaction rate was 88% (52/59) in the intervention group and 67% (35/53) in the control group (P < 0.05).

Conclusions
Vertebral cancellous bone infiltration anaesthesia may effectively relieve intraoperative pain and improve the surgical experience of patients without affecting the clinical effect of surgery.