bluuebunny/crossref_metadata_2025_split huggingface dataset:
Epidemiology of more than 50,000 ankle fractures in the Swedish Fracture Register during a period of 10 years
Authors: Rydberg Emilia Möller , Wennergren David , Stigevall Caroline , Ekelund Jan , Möller Michael 
Published: January 2023

Abstract
Background
Despite being one of the most common types of fracture, there is a lack of epidemiological studies involving ankle fractures of all kinds. Since 2012, the Swedish Fracture Register (SFR) has prospectively collected data on surgically and non-surgically treated ankle fractures. The aim of this study is to describe the epidemiology of ankle fractures between 2012 and 2022.

Methods
All ankle fractures registered in the SFR between 1 April 2012 and 31 March 2022 in patients aged 16 years or older were included. Information on age, sex, mechanism of injury, fracture classification according to AO/OTA and high- or low-energy trauma was retrieved from the SFR.

Results
During the study period, 56,439 patients sustained 57,443 ankle fractures. Women (61%) were more commonly affected than men (39%). The mean age at the time of injury was 55 years. Men were found to be younger at the time of injury compared with women. Women were found to sustain open fractures more frequently, whereas the men more frequently sustained high-energy trauma. The most common mechanism of injury for all ankle fractures and for each AO/OTA44 fracture group separately was a simple fall. A seasonal variation in ankle fractures was found, where the number of ankle fractures peaked during the between November and March.

Conclusions
This study presents the epidemiology of all AO/OTA types of ankle fractures. We have demonstrated that most ankle fractures are caused by a simple fall and occur during wintertime. Women are more commonly affected than men and are older at the time of injury. These findings indicate that age-related skeletal fragility, as well as an increasing risk of simple falls in the elderly, may be risk factors for ankle fractures. This study will contribute to the planning of primary prevention for ankle fractures.
Glutamate dehydrogenase hyperinsulinism: mechanisms, diagnosis, and treatment
Authors: Zeng Qiao , Sang Yan-Mei 
Published: January 2023

AbstractCongenital hyperinsulinism (CHI) is a genetically heterogeneous disease, in which intractable, persistent hypoglycemia is induced by excessive insulin secretion and increased serum insulin concentration. To date,15 genes have been found to be associated with the pathogenesis of CHI. Glutamate dehydrogenase hyperinsulinism (GDH-HI) is the second most common type of CHI and is caused by mutations in the glutamate dehydrogenase 1 gene. The objective of this review is to summarize the genetic mechanisms, diagnosis and treatment progress of GDH-HI. Early diagnosis and treatment are extremely important to prevent long-term neurological complications in children with GDH-HI.
Trem2 H157Y increases soluble TREM2 production and reduces amyloid pathology
Authors: Qiao Wenhui , Chen Yixing , Zhong Jun , Madden Benjamin J. , Charlesworth Cristine M. , Martens Yuka A. , Liu Chia-Chen , Knight Joshua , Ikezu Tadafumi C. , Kurti Aishe , Zhu Yiyang , Meneses Axel , Rosenberg Cassandra L. , Kuchenbecker Lindsey A. , Vanmaele Lucy K. , Li Fuyao , Chen Kai , Shue Francis , Dacquel Maxwell V. , Fryer John , Pandey Akhilesh , Zhao Na , Bu Guojun 
Published: January 2023

Abstract
Background
The rare p.H157Y variant of TREM2 (Triggering Receptor Expressed on Myeloid Cells 2) was found to increase Alzheimer’s disease (AD) risk. This mutation is located at the cleavage site of TREM2 extracellular domain. Ectopic expression of TREM2-H157Y in HEK293 cells resulted in increased TREM2 shedding. However, the physiological outcomes of the TREM2 H157Y mutation remain unknown in the absence and presence of AD related pathologies.

Methods
We generated a novel Trem2 H157Y knock-in mouse model through CRISPR/Cas9 technology and investigated the effects of Trem2 H157Y on TREM2 proteolytic processing, synaptic function, and AD-related amyloid pathologies by conducting biochemical assays, targeted mass spectrometry analysis of TREM2, hippocampal electrophysiology, immunofluorescent staining, in vivo micro-dialysis, and cortical bulk RNA sequencing.

Results
Consistent with previous in vitro findings, Trem2 H157Y increases TREM2 shedding with elevated soluble TREM2 levels in the brain and serum. Moreover, Trem2 H157Y enhances synaptic plasticity without affecting microglial density and morphology, or TREM2 signaling. In the presence of amyloid pathology, Trem2 H157Y accelerates amyloid-β (Aβ) clearance and reduces amyloid burden, dystrophic neurites, and gliosis in two independent founder lines. Targeted mass spectrometry analysis of TREM2 revealed higher ratios of soluble to full-length TREM2-H157Y compared to wild-type TREM2, indicating that the H157Y mutation promotes TREM2 shedding in the presence of Aβ. TREM2 signaling was further found reduced in Trem2 H157Y homozygous mice. Transcriptomic profiling revealed that Trem2 H157Y downregulates neuroinflammation-related genes and an immune module correlated with the amyloid pathology.

Conclusion
Taken together, our findings suggest beneficial effects of the Trem2 H157Y mutation in synaptic function and in mitigating amyloid pathology. Considering the genetic association of TREM2 p.H157Y with AD risk, we speculate TREM2 H157Y in humans might increase AD risk through an amyloid-independent pathway, such as its effects on tauopathy and neurodegeneration which merit further investigation.
CD146 expression profile in human skin and pre-vascularized dermo-epidermal skin substitutes in vivo
Authors: Nanni Monica , Rütsche Dominic , Bächler Curdin , Pontiggia Luca , Klar Agnes S. , Moehrlen Ueli , Biedermann Thomas 
Published: January 2023

Abstract
Background
CD146 is a cell adhesion molecule whose expression profile in human skin has not yet been elucidated. Here, we characterize CD146 expression pattern in human skin, in particular in blood endothelial cells (BECs) and lymphatic endothelial cells (LECs), which constitute human dermal microvascular endothelial cells (HDMECs), as well as in perivascular cells.

Results
We demonstrated that CD146 is a specific marker of BECs, but not of LECs. Moreover, we found CD146 expression also in human pericytes surrounding blood capillaries in human skin. In addition, we demonstrated that CD146 expression is up-regulated by the TNFα-IL-1β/NF-kB axis in both BECs and pericytes. Finally, we engineered 3D collagen hydrogels composed of HDMECs, CD146+ pericytes, and fibroblasts which developed, in vitro and in vivo, a complete microvasculature network composed of blood and lymphatic capillaries with pericytes investing blood capillaries.

Conclusions
Overall, our results proved that CD146 is a specific marker of BECs and pericytes, but not LECs in human skin. Further, the combination of CD146+ pericytes with HDMECs in skin substitutes allowed to bioengineer a comprehensive 3D in vitro and in vivo model of the human dermal microvasculature.
Expression of hormone receptors is associated with specific immunological profiles of the breast cancer microenvironment
Authors: Hanamura Toru , Kitano Shigehisa , Kagamu Hiroshi , Yamashita Makiko , Terao Mayako , Okamura Takuho , Kumaki Nobue , Hozumi Katsuto , Iwamoto Takayuki , Honda Chikako , Kurozumi Sasagu , Niikura Naoki 
Published: January 2023

AbstractBackgroundElucidating the unique immunoregulatory mechanisms in breast cancer microenvironment may help develop new therapeutic strategies. Some studies have suggested that hormone receptors also have immune regulatory functions, but their mechanisms are not fully understood. In this study, we have comprehensively analyzed the relationship between the expressions of estrogen (ER), progesterone (PgR), and androgen receptors (AR), and the immunological profile in breast cancer.MethodsUsing publicly available gene expression profile datasets, METABRIC and SCAN-B, the associations between the expressions of hormone receptors and the immune cell compositions in breast cancer tissue, estimated by CIBERSORTx algorithm, were analyzed. We histologically evaluated tumor-infiltrating lymphocytes (hTIL), PD-L1 (hPD-L1) expression, and the infiltration of 11 types of immune cells by flow cytometry (FCM) for 45 breast cancer tissue samples. The relationships between them and the expressions of ER, PgR, and AR of tumor tissues, evaluated immunohistochemically, were analyzed.ResultsExpressions ofESR1,PGR, andARwere negatively correlated with overall immune composition. Expressions of ER and AR, but not that of PgR, were inversely associated with hTIL and hPD-L1 expression. FCM analysis showed that the expressions of ER and AR, but not that of PgR, were associated with decreased total leukocyte infiltration. Both CIBERSORTx and FCM analysis showed that ER expression was associated with reduced infiltration of macrophages and CD4+ T cells and that of AR with reduced macrophage infiltration.ConclusionHormone receptor expression correlates with specific immunological profiles in the breast cancer microenvironment both at the gene and protein expression levels.
EffEctiveness of Prophylactic fOam dressings in the prevention of saCral pressure injuries in at-risk hospitalised patients: the EEPOC trial
Authors: Walker R. M. , Chaboyer W. , Cooke M. , Whitty J. A. , Thalib L. , Lockwood I. , Latimer S. , Campbell J. , Probert R. , Gillespie B. M. 
Published: January 2023

Abstract
Background
Prophylactic dressings are increasingly used to prevent pressure injuries in hospitalised patients. However, evidence regarding the effectiveness of these dressings is still emerging. This trial aims to determine the clinical and cost-effectiveness of a prophylactic silicone foam border dressing in preventing sacral pressure injuries in medical-surgical patients.

Methods
This is a multicentre, pragmatic, parallel group, randomised controlled trial. A sample size of 1320 was calculated to have >90% power to detect a 5% difference in the primary outcome at an alpha of 0.05. Adult patients admitted to participating medical-surgical wards are screened for eligibility: ≥18 years, admitted to hospital within the previous 36 h, expected length of stay of ≥24 h, and assessed high risk for hospital-acquired pressure injury. Consenting participants are randomly allocated to either prophylactic silicone foam dressing intervention or usual care without any dressing as the control group via a web-based randomisation service independent of the trial. Patients are enrolled across three Australian hospitals. The primary outcome is the cumulative incidence of patients who develop a sacral pressure injury. Secondary outcomes include the time to sacral pressure injury, incidence of severity (stage) of sacral pressure injury, cost-effectiveness of dressings, and process evaluation. Participant outcomes are assessed daily for up to 14 days by blinded independent outcome assessors using de-identified, digitally modified sacral photographs. Those who develop a sacral pressure injury are followed for an additional 14 days to estimate costs of pressure injury treatment. Analysis of clinical outcomes will be based on intention-to-treat, per-protocol, and sensitivity analyses.

Discussion
This trial aims to provide definitive evidence on the effect prophylactic dressings have on the development of hospital-acquired sacral pressure injuries in medical-surgical patients. A parallel economic evaluation of pressure injury prevention and treatment will enable evidence-informed decisions and policy. The inclusion of a process evaluation will help to explain the contextual factors that may have a bearing on trial results including the acceptability of the dressings to patients and staff. The trial commenced 5 March 2020 and has been significantly delayed due to COVID-19.

Trial registration
ANZCTR ACTRN12619000763145. Prospectively registered on 22 May 2019
Long-term secular trends in dermatomyositis and polymyositis mortality in the USA from 1981 to 2020 according to underlying and multiple cause of death mortality data
Authors: Qiao Pengyan , Guo Qianyu , Gao Jinfang , Ma Dan , Liu Sumiao , Gao Xiang , Lu Tsung-Hsueh , Zhang Liyun 
Published: January 2023

Abstract
Background
People
with dermatomyositis (DM) or polymyositis (PM) often die from cancer, pulmonary, cardiac complications, or infections. In such cases, DM or PM might not be designated as the underlying cause of death (UCD) for mortality tabulation. In this study, we investigated DM/PM mortality trends in the USA from 1981 to 2020 with respect to UCD and multiple causes of death (MCD) data.

Methods
We used the MCD data to identify all deaths with DM or PM mentioned anywhere on the death certificate and as the UCD in the USA from 1981–1982 to 2019–2020. We calculated age-adjusted mortality rates (AAMRs) and annual percentage changes (APCs) based on joinpoint regression analysis.

Results
We identified 12,249 (3985 with DM and 7097 with PM) and 23,608 (8264 with DM and 15,344 with PM) people who died between 1981 and 2020 according to the UCD and MCD data, respectively. For DM, the APC was − 6.7% (from 1981–1982 to 1985–1986), − 0.1% (from 1985–1986 to 2003–2004), and − 1.9% (from 2003–2004 to 2019–2020) according UCD and was − 1.2% (from 1981–1982 to 2003–2004), − 2.5% (from 2003–2004 to 2015–2016), and 2.8% (from 2015–2016 to 2019–2020) according MCD. For PM, the APC was 1.9% (from 1981–1982 to 1989–1990), − 2.3% (from 1989–1990 to 2005–2006), and − 5.2% (from 2005–2006 to 2019–2020) according UCD and was 1.3% (from 1981–1982 to 1991–1992) and − 4.1% (from 1991–1992 to 2019–2020) according MCD.

Conclusion
We identified two times as many DM/PM deaths using the MCD as those identified using the UCD. Similar downward DM/PM mortality trends were noted according to UCD and MCD. However, the year of significant decline in PM mortality was about 10 years earlier according to MCD than those according to UCD.
Variations in cumulative workload and anaerobic power in adolescent elite male football players: associations with biological maturation
Authors: Nobari Hadi , Gorouhi Armin , Mallo Javier , Lozano Demetrio , Prieto-González Pablo , Mainer-Pardos Elena 
Published: January 2023

Abstract
Background
It is considered that the maturity condition of young football players is related to their physical performance during short high-intensity efforts dependent on anaerobic power ability. Hence, the aim was to determine possible relationships between maturity status and training intensity by measuring the footballer´s peak height velocity (PHV), maturity offset and anaerobic power.

Methods
Seventeen youth male players of different playing positions participated in the study and performed tests at three different stages of the season (early-, mid- and end-season) All the anthropometric parameters and biomarkers related to maturation were controlled during the season. The training intensity and load was monitored and the anaerobic power of the players was assessed by a running-based anaerobic sprint test (RAST).

Results
The analysis of all the recorded data revealed a positive relationship between PHV and anaerobic power in the early- and end-season stages (p < 0.05). Maturity offset and anaerobic power (mean RAST) showed an absolute correlation in early- and end -season stages (r: − 0.39 to 0.91). The multiple linear regression analysis revealed that min RAST was the best predictor for both PHV and maturity offset. The analysis of the training intensity and workloads showed a positive effect on the performance in the fitness test (p < 0.05). Additionally, players experienced less fatigue at the end-season stage than at the early-season.

Conclusions
The results show that coaches might benefit from monitoring training loads and the maturity status of the players in order to enhance their physical performance during the season.
Epigenetic aging in patients diagnosed with coronary artery disease: results of the LipidCardio study
Authors: Banszerus Verena Laura , König Maximilian , Landmesser Ulf , Vetter Valentin Max , Demuth Ilja 
Published: January 2023

AbstractIntroductionPeople age biologically at different rates. Epigenetic clock-derived DNA methylation age acceleration (DNAmAA) is among the most promising markers proposed to assess the interindividual differences in biological age. Further research is needed to evaluate the characteristics of the different epigenetic clock biomarkers available with respect to the health domains they reflect best.MethodsIn this study, we have analyzed 779 participants of the LipidCardio study (mean chronological age 69.9 ± 11.0 years, 30.6% women) who underwent diagnostic angiography at the Charité University Hospital in Berlin, Germany. DNA methylation age (DNAm age) was measured by methylation-sensitive single nucleotide primer extension (MS-SNuPE) and calculated with the 7-CpG clock. We compared the biological age as assessed as DNAmAA of participants with an angiographically confirmed coronary artery disease (CAD,n = 554) with participants with lumen reduction of 50% or less (n = 90) and patients with a normal angiogram (n = 135).ResultsParticipants with a confirmed CAD had on average a 2.5-year higher DNAmAA than patients with a normal angiogram. This association did not persist after adjustment for sex in a logistic regression analysis. High-density lipoprotein, low-density lipoprotein, triglycerides, lipoprotein (a), estimated glomerular filtration rate, physical activity, BMI, alcohol consumption, and smoking were not associated with DNAmAA.ConclusionThe association between higher DNAmAA and angiographically confirmed CAD seems to be mainly driven by sex.
Penile gangrene due to improper application of a condom catheter: a case report
Authors: Chaker Kays , Ouanes Yassine , Rinchi Makram , Cherni Nizar , Bibi Mokhtar , Dali Kheireddine Mrad , Nouira Yassine 
Published: January 2023

Abstract
Background
Fournier’s gangrene is a rare, fulminant, and usually localized necrotizing soft tissue polymicrobial infection of the perineum, with occasional extension up to the abdominal wall.

Case presentation
We describe an unusual case of penile gangrene in a 64-year-old Tunisian man suffering from urinary incontinence secondary to cerebrovascular accident. Gangrene developed due to continuous tourniquet effect on the penis caused by a condom catheter. Although source control was achieved with aggressive debridement, careful wound care, and wide-spectrum antibiotherapy, the patient died due to septic shock.

Conclusion
Use of condom catheters is not without complications. Careful placement, strict hygiene, and regular monitoring of the local condition are necessary.
Book review of Masters of the Steppe: The Impact of the Scythians and Later Nomad Societies of Eurasia edited by Svetlana V Pankova and St John Simpson
Authors: Bendrey Robin 
Published: January 2023

Book detailsSvetlana V Pankova and St John Simpson (eds.) Masters of the Steppe: the Impact of the Scythians and Later Nomad Societies of Eurasia. Oxford: Archaeopress, 2020. Paperback; 802 pages; 604 figures, 21 tables, ISBN: 978-1-78969-647-9
A review of collaborative research practices with Indigenous Peoples in engineering, energy, and infrastructure development in Canada
Authors: Dimayuga Pia , Sur Shakya , Choi Alex , Greenwood Heather L. , Galloway Tracey , Bilton Amy M. 
Published: January 2023

AbstractBackgroundIndigenous Peoples in Canada have survived hundreds of years of colonization and systematic exploitation, including actions carried out in the pursuit of energy resources and infrastructure development in traditional Indigenous territories. Research has been a tool in this exploitation through its legacy of research ‘on’ rather than ‘with’ Indigenous Peoples. As societies grapple with reconciliation, including how to build partnerships for sustainable land and energy development, engineering and technical research must use respectful approaches that centre on Indigenous Peoples and Indigenous Knowledge Systems.Main textThis preliminary review aims to be a step to address the lack of literature on respectful research with Indigenous Peoples within the context of engineering, energy, and infrastructure. To this end, we: (a) summarize three key frameworks that have been used in technical research projects for carrying out research respectfully, as defined by Indigenous and Indigenist ways of knowing and doing (Research is Ceremony, Two-Eyed Seeing, and doing research in a “Good Way”) and derive from them overarching principles; (b) identify a sample of 13 engineering, energy and infrastructure research projects that report using an Indigenous-centred approach. These relate to five technical areas, whose relevance to Indigenous communities was verified through community partners: water, energy, housing, telecommunications, and food systems; (c) assess the extent to which these 13 projects applied the principles of respectful research when working with Indigenous communities. Among the 13 projects identified, it is evident that some researchers in the fields of engineering, energy, and infrastructure are struggling and striving to engage respectfully with Indigenous communities. However, few include full details of their relationships and interactions with Indigenous communities in their published work.ConclusionsThese findings suggest a lack of details on respectful collaboration with Indigenous communities in technical literature. Gaps include a scarcity of evidence that Indigenous communities were involved in high-level decision-making or provided post-project feedback. Further work is needed to embed respectful research principles into the training, processes, and institutions of technical fields. This is essential to ensure ethical partnerships between technical researchers and Indigenous communities.
Pan-cancer patterns of cuproptosis markers reveal biologically and clinically relevant cancer subtypes
Authors: Bu Fanqin , Li Xiangji , Zhao Yu , Bai Liyi , Zhang Shutian , Min Li 
Published: January 2023

AbstractCuproptosis is a newly discovered type of cell death triggered by copper accumulation. Here we exhibited the genetic profiles of 10 cuproptosis-associated genes (CuAGs) across 21 cancer types. Only 8.0% (627/7839) of tumors possessed at least 1 mutation on CuAGs, while the copy number amplifications or deletions on the alleles of CuAGs were ubiquitous. Generally, the expression of CuAGs showed heterogeneity across cancer types and the expression of CuAGs showed different correlations with MSI, TMB, immune and stromal features in different cancer types. Therefore, CuAGs were ubiquitously and heterogeneously dysregulated in pan-cancer. With a Non-negative Matrix Factorization method, we divided patients of each cancer type into cuproptosis-based subtypes, which showed a close but heterogeneous correlation with different biological and clinical features. Accordingly, we summarized all cancer types into four categories. The cancers in which cuproptosis subtypes correlated with MSI and TMB were annotated as Genomic disturbed. Those correlated with stromal scores were categorized as Stromal remolded. The others only associated with immune infiltration were labeled as Immune inhibited. A minor fraction of cancers not correlated with any biological indicators were marked as Cuproptosis inert. Together, we provided a pan-cancer overview of cuproptosis markers which revealed biologically and clinically relevant cancer subtypes in different cancers.