bluuebunny/crossref_metadata_2025 huggingface dataset:
Professional identity and workplace motivation: A case study of health information managers
Authors: Nexhip Abbey , Riley Merilyn , Robinson Kerin
Published: August 2022

Background

The professional identity and motivation of qualified health information managers (HIMs) is largely unexplored.

Objectives

A larger study has investigated the motivators of HIMs in the construction of their professional identity and associated relationships to job satisfaction and engagement with their profession. The aims of this component of the study were to: (i) identify and analyse the characteristics of members of the profession who have different motivation profiles; (ii) obtain HIMs’ perspectives on their professional identity; and (iii) measure correlation between HIMs’ professional identity and different motivating factors. Method: A cross-sectional study design, with a convergent mixed-methods approach to data collection was employed. An online survey was administered to the 1985, 1995, 2005 and 2015 Australian health information management and medical record administration graduate cohorts from one university in Victoria.

Results

Response rate: 72.7% ( n = 72). There were no statistically significant correlations between the HIMs’ motivation profile and professional identity. The HIMs were largely motivated by a need for achievement (striving for excellence) and continuous improvement; maintained high standards of work quality (95.8%); valued their work (94.4%) and work collaborations (84.7%); satisfactorily applied skills-knowledge (94%); demonstrated a very strong professional association (92% were proud to belong to the profession). Key factors in motivation that were consistently reported by members of all cohorts in the open-ended questions were as follows: intrinsic motivation; colleagues and teamwork; the variety of work performed; and contribution to the bigger picture. Overall, and notwithstanding between-cohort differences: 65.3% confidently directed others, 45.8% aspired to leadership and 38% actively networked. They related difficulty in explaining the profession to outsiders.

Conclusion

There was no correlation between motivation profile and professional identity. Significantly, the HIMs demonstrated exceptionally strong positive professional identity, reflected particularly in pride in membership of the profession and their belief in the importance of their professional work.
Aneurysmal bone cyst of the skull: A case report
Authors: Woldow Adam , Foy Valerie M
Published: August 2022

The authors present a case report of a 14-year-old male with a single temporal scalp nodule. After imaging and surgical resection, the diagnosis of an aneurysmal bone cyst was made. Although aneurysmal bone cysts are benign, they tend to grow rapidly and cause subsequent complications. In this case report, the authors explore the importance of physical examination in order to make more accurate diagnoses.
Tell me why or tell me to whom: Framing charitable solicitations based on political orientation
Authors: Denis Etienne , Leclercq Thomas , Ritondo Rafaël
Published: August 2022

Soliciting charitable giving is a day-to-day challenge for nonprofit organizations (NPOs); thus, scholars and practitioners are increasingly looking for reliable and practical segmentation variables that NPOs can use to optimize their communication to potential donors. The present research examines how the sociocultural dimension of a political orientation may affect their donations according to the communication framing used by an NPO. Combining secondary field data and experiments, we highlight approach–avoidance motivations as a relevant framework for NPOs in adapting their communication to the political orientation of their audience. This research contributes to the existing literature by highlighting the conditions under which liberals and conservatives may donate more. We show the efficacy of approach-based framing for liberals and avoidance-based framing for conservatives. We also point out the influence of the perceived proximity of the beneficiaries and the degree of social justice associated with the cause according to the political orientation of donors. This article provides strong insight for NPOs to segment, adapt, and improve their communication with their audience.
Human Papillomavirus Prevalence and Vaccination Rates Among Users of Pre-Exposure Prophylaxis for Human Immunodeficiency Virus Prevention
Authors: Rotert Paul , Wheldon Christopher , Kownack Jenn , Sullivan-Blum Zoe , Cokingtin Brendan , Khetani Karishma , Ndeti Kavindu , Skyes Kevin , Ramaswamy Megha
Published: August 2022

Introduction:

Our study provides data on the prevalence of human papillomavirus (HPV) related disease and vaccination rates among users of pre-exposure prophylaxis (PrEP) in a primary care clinic. Results highlight an opportunity to partner HIV and HPV prevention efforts.

Methods:

This is a retrospective chart review of PrEP patients in an urban Midwestern Family Medicine clinic. We conducted univariate analyses for HPV vaccination status and the prevalence of any HPV-related disease. We then examined bivariate relationships between vaccination status and insurance coverage, provider type, and age.

Results:

Of all 78 PrEP patients identified, 21.8% (n = 17) were vaccinated. Of the 59 patients 45 years or younger, 28.8% (n = 17) were vaccinated. There was no association between insurance or provider type and vaccination status. Patients 26 years or younger were 3 times more likely to be vaccinated than those ages 27 to 45 (56.3% vs 18.6%, P = .0011). Three unvaccinated patients had HPV-related disease.

Conclusions:

Despite ongoing risk of HPV infection and frequent interaction with the medical system, this study found most PrEP users continue to be unvaccinated. This is a significant missed opportunity for HPV prevention. With the FDA approval of the HPV vaccine for individuals age 9 to 45, PrEP patients in this age range would benefit from clinicians partnering HPV vaccination with PrEP prescribing.
Distance to the Neurovascular Bundle for Iliotibial Band Graft Passage During Anterior Cruciate Ligament Reconstruction: A Pediatric Cadaveric Study
Authors: Thomas Nicholas D. , Ayala Salvador , Rohde Matthew , Gupta Anshal , Sanchez Mark , Ellis Henry , Tompkins Marc , Wilson Phil , Sherman Seth , Green Daniel , Ganley Theodore J. , VandenBerg Curtis , Yen Yi-Meng , Shea Kevin G.
Published: August 2022

Background:

The Micheli technique for anterior cruciate ligament (ACL) reconstruction (ACLR) has proven to be a reliable method with a minimal risk for growth disturbance among skeletally immature patients.

Purposes:

To evaluate the Micheli technique of iliotibial band (ITB) graft passage for ACLR using cadaveric knee models and to measure the distance between the surgical instrument tip and the neurovascular bundle in the posterior knee joint: specifically, the peroneal nerve, tibial nerve, and popliteal artery.

Study Design:

Descriptive laboratory study.

Methods:

Gross dissection was performed on 17 pediatric cadaveric knees (12 male and 5 female) aged between 4 and 12 years. To simulate ITB graft passage, we passed a curved-tip hemostat clamp through the posterior capsule, with the knee flexed from 90° to 100°. Next, clinical photographs were taken, and digital imaging software was used to measure the distance in centimeters from the clamp tip to each respective neurovascular structure.

Results:

The mean distances from the clamp tip to the tibial nerve, popliteal artery, and peroneal nerve were 0.875 cm (range, 0.468-1.737 cm), 0.968 cm (range, 0.312-1.819 cm), and 1.149 cm (range, 0.202-2.409 cm), respectively. Mean values were further calculated for age groups of ≤8, 9-10, and 11-12 years. The mean distance from the clamp tip to the peroneal nerve was 1.400 cm larger for 11- to 12-year-old specimens than for ≤8-year-old specimens (95% CI, 0.6-2.2 cm; P = .005).

Conclusion:

The neurovascular structures in the posterior knee were in close proximity to the path of graft passage, with distances <1 cm in many specimens in this study. When passing the graft through the knee for an over-the-top position, surgeons should consider these small distances between the path of graft passage and critical neurovascular structures.

Clinical Relevance:

As the incidence of ACL tears is continuously increasing within the pediatric population, there are a larger number of ACLR procedures being performed. Although neurovascular injuries during ACLR are rare, this study clarifies the close proximity of neurovascular structures during ITB graft passage using the Micheli technique of ACLR.
Prevalence of gestational diabetes in Eastern Democratic Republic of Congo
Authors: Kisindja Rogatien Mwandjalulu , Tugirimana Pierrot Lundimu , Prudence Mitangala Ndeba , Bosunga Katenga , Sihalikyolo Jean-Jeannot Juakali , Kayamba Prosper Kalenga Muenze , Tambwe-A-Nkoy Albert Mwembo
Published: August 2022

Objective

To determine the prevalence of gestational diabetes and associated risk factors in the eastern region of the Democratic Republic of Congo (DRC).

Methods

A cross-sectional study was conducted in Goma city, Idjwi, Ngungu and Rutshuru districts between April 2019 and February 2021. Pregnant women between 24–28 weeks of amenorrhea who consented to participate in the study were included. Blood sugar, anthropometric parameters and obstetrical and family history were studied. Gestational diabetes was defined as blood glucose level between 92 and 125 mg/dL.

Results

The overall prevalence was 21.2% (n = 391) and was higher in Rutshuru [27.2% (n = 92)] and Goma [26.9% (n = 134)] compared to Ngungu [10.0% (n = 110)] (p = 0.005). An increased risk was associated with a history of a newborn weighing ≥ 4000 g [OR 2.4 95% CI (1.3 – 4.4)] or family diabetes [OR 2.9 95% CI (2.0 – 4.9)]. Median age in the pathological group was not different from that with normal blood glucose [25.0 (16.0 – 44.0) Vs 26.0 (16.0 – 44.0)] (p = 0.67). The prevalence tended to increase for pregnant women with a mid-upper arm circumference ≥ 280 mm [28.1% (n = 57)] Vs [19.3% (n = 322)] if < 280 mm, [OR (95% CI)] [1.5 (0.9—2.3)] (p = 0.13).

Conclusion

Gestational diabetes was found in one out of five pregnant women regardless their age. A history of macrosomia birth and diabetes in the family were the main risk factors.
Multiparameter diagnostic model based on 18F-FDG PET and clinical characteristics can differentiate thymic epithelial tumors from thymic lymphomas
Authors: Wang Guanyun , Du Lei , Lu Xia , Liu Jiajin , Zhang Mingyu , Pan Yue , Meng Xiaolin , Xu Xiaodan , Guan Zhiwei , Yang Jigang
Published: August 2022

Objective

To evaluate the diagnostic performance of combined multiparametric 18F-fluorodeoxyglucose positron emission tomography (18FDG PET) with clinical characteristics in differentiating thymic epithelial tumors (TETs) from thymic lymphomas.

Patients and methods

A total of 173 patients with 80 TETs and 93 thymic lymphomas who underwent 18F-FDG PET/CT before treatment were enrolled in this retrospective study. All patients were confirmed by pathology, and baseline characteristics and clinical data were also collected. The semi-parameters of 18F-FDG PET/CT, including lesion size, SUVmax (maximum standard uptake value), SUVmean (mean standard uptake value), TLG (total lesion glycolysis), MTV (metabolic tumor volume) and SUVR (tumor-to-normal liver standard uptake value ratio) were evaluated. The differential diagnostic efficacy was evaluated using the receiver operating characteristic (ROC) curve. Integrated discriminatory improvement (IDI) and net reclassification improvement (NRI), and Delong test were used to evaluate the improvement in diagnostic efficacy. The clinical efficacy was evaluated by decision curve analysis (DCA).

Results

Age, clinical symptoms, and metabolic parameters differed significantly between patients with TETs and thymic lymphomas. The ROC curve analysis of SUVR showed the highest differentiating diagnostic value (sensitivity = 0.763; specificity = 0.888; area under the curve [AUC] = 0.881). The combined diagnostics model of age, clinical symptoms and SUVR resulted in the highest AUC of 0.964 (sensitivity = 0.882, specificity = 0.963). Compared with SUVR, the diagnostic efficiency of the model was improved significantly. The DCA also confirmed the clinical efficacy of the model.

Conclusions

The multiparameter diagnosis model based on 18F-FDG PET and clinical characteristics had excellent value in the differential diagnosis of TETs and thymic lymphomas.
A latent class analysis of cognitive decline in US adults, BRFSS 2015-2020
Authors: Snead Ryan , Dumenci Levent , Jones Resa M.
Published: August 2022

Background

Cognitive decline can be an early indicator for dementia. Using quantitative methods and national representative survey data, we can monitor the potential burden of disease at the population-level.

Methods

BRFSS is an annual, nationally representative questionnaire in the United States. The optional cognitive decline module is a six-item self-reported scale pertaining to challenges in daily life due to memory loss and growing confusion over the past twelve months. Respondents are 45+, pooled from 2015-2020. Latent class analysis was used to determine unobserved subgroups of subjective cognitive decline (SCD) based on item response patterns. Multinomial logistic regression predicted latent class membership from socio-demographic covariates.

Results

A total of 54,771 reported experiencing SCD. The optimal number of latent classes was three, labeled as Mild, Moderate, and Severe SCD. Thirty-five percent of the sample belonged to the Severe group. Members of this subgroup were significantly less likely to be older (65+ vs. 45-54 OR = 0.29, 95% CI: 0.23-0.35) and more likely to be non-Hispanic Black (OR = 1.80, 95% CI: 1.53-2.11), have not graduated high school (OR = 1.60, 95% CI: 1.34-1.91), or earned <$15K a year (OR = 3.03, 95% CI: 2.43-3.77).

Conclusions

This study determined three latent subgroups indicating severity of SCD and identified socio-demographic predictors. Using a single categorical indicator of SCD severity instead of six separate items improves the versatility of population-level surveillance.
The accuracy of pulse oximetry in measuring oxygen saturation by levels of skin pigmentation: a systematic review and meta-analysis
Authors: Shi Chunhu , Goodall Mark , Dumville Jo , Hill James , Norman Gill , Hamer Oliver , Clegg Andrew , Watkins Caroline Leigh , Georgiou George , Hodkinson Alexander , Lightbody Catherine Elizabeth , Dark Paul , Cullum Nicky
Published: August 2022

Background

During the COVID-19 pandemic, there have been concerns regarding potential bias in pulse oximetry measurements for people with high levels of skin pigmentation. We systematically reviewed the effects of skin pigmentation on the accuracy of oxygen saturation measurement by pulse oximetry (SpO2) compared with the gold standard SaO2 measured by CO-oximetry.

Methods

We searched Ovid MEDLINE, Ovid Embase, EBSCO CINAHL, ClinicalTrials.gov, and WHO International Clinical Trials Registry Platform (up to December 2021) for studies with SpO2–SaO2 comparisons and measuring the impact of skin pigmentation or ethnicity on pulse oximetry accuracy. We performed meta-analyses for mean bias (the primary outcome in this review) and its standard deviations (SDs) across studies included for each subgroup of skin pigmentation and ethnicity and used these pooled mean biases and SDs to calculate accuracy root-mean-square (Arms) and 95% limits of agreement. The review was registered with the Open Science Framework (https://osf.io/gm7ty).

Results

We included 32 studies (6505 participants): 15 measured skin pigmentation and 22 referred to ethnicity. Compared with standard SaO2 measurement, pulse oximetry probably overestimates oxygen saturation in people with the high level of skin pigmentation (pooled mean bias 1.11%; 95% confidence interval 0.29 to 1.93%) and people described as Black/African American (1.52%; 0.95 to 2.09%) (moderate- and low-certainty evidence). The bias of pulse oximetry measurements for people with other levels of skin pigmentation or those from other ethnic groups is either more uncertain or suggests no overestimation. Whilst the extent of mean bias is small or negligible for all subgroups evaluated, the associated imprecision is unacceptably large (pooled SDs > 1%). When the extent of measurement bias and precision is considered jointly, pulse oximetry measurements for all the subgroups appear acceptably accurate (with Arms < 4%).

Conclusions

Pulse oximetry may overestimate oxygen saturation in people with high levels of skin pigmentation and people whose ethnicity is reported as Black/African American, compared with SaO2. The extent of overestimation may be small in hospital settings but unknown in community settings.

Review protocol registration

https://osf.io/gm7ty
Vectorial capacities for malaria in eastern Amazonian Brazil depend on village, vector species, season, and parasite species
Authors: Zimmerman Robert H. , Galardo Allan K. R. , Lounibos L Philip , Galardo Clicia , Bahar A. Kadir , van Santen Edzard
Published: August 2022

Background

The vector species in the Amazon River Basin are regionally and locally diverse, which makes it imperative to understand and compare their roles in malaria transmission to help select appropriate methods of intervention and evaluation. The major aim of this study was to measure the vectorial capacity of five Anopheles species in three neighbouring villages, for two Plasmodium parasite species affecting humans.

Methods

From 32 consecutive months of sampling in three villages, 1.5–7.0 km apart, on the Matapi River, Amapá State, Brazil, vectorial capacities (C) were estimated as time series for An. darlingi, An. marajoara, An. nuneztovari, An. triannulatus, and An. intermedius. Monthly parity measurements for each vector species were used to estimate daily survivorship and compared to estimates of survivorship from mark-release-recapture experiments. Gonotrophic cycle lengths were estimated through a time-series analysis of parity data, and durations of sporogony at study site temperatures for the two malaria parasite species were estimated from previous literature.

Results

The absolute abundances of five vector species were strongly tracked by the spatial variation in C among villages. Temporally, C varied between wet and dry seasons, with An. darlingi, An. marajoara and An. triannulatus exhibiting higher C in the dry season from August to December, and An. nuneztovari its highest C early in the rainy season in January and February. Anopheles intermedius exhibited higher C in the rainy season from April to June than in the dry season. Significant differences in overall survival for each independent variable, and a significant difference in C between wet and dry seasons, among villages, and among vector species for both Plasmodium falciparum and Plasmodium vivax. A generalized linear mixed model (GLMM) analysis by village showed significant effects of vector species on C in only one village, but significant effects of parasite species in all three. Although the GLMM analysis detected no significant parasite x vector species interaction effects on C, effects on C of spline regressions of C dynamics x vector species interactions were significant in all villages.

Conclusions

These detailed analyses of entomological and parasitological variables revealed hidden complexities of malaria epidemiology at local scales in neighbouring riverine villages of the Amazon Region.
Association between dietary inflammatory index scores and the increased disease activity of rheumatoid arthritis: a cross-sectional study
Authors: Nayebi Atiyeh , Soleimani Davood , Mostafaei Shayan , Elahi Negin , Pahlavani Naseh , Bagheri Amir , Elahi Homayoun , Mahmoudi Mahdi , Nachvak Seyyed Mostafa
Published: August 2022

Background

Diet plays an important role in regulating inflammation, which is a hallmark of rheumatoid arthritis (RA). Our aim was to investigate the association between the Dietary Inflammatory Index (DII) scores and RA activity.

Methods

This cross-sectional study was conducted on 184 patients with RA in rheumatology clinic in Kermanshah city, Iran, in 2020. RA was diagnosed according to the criteria of the 2010 American College of Rheumatology/ European League against Rheumatism. The overall inflammatory potential of the diet was extracted from a validated 168-item food frequency questioner (FFQ) using the DII. RA disease activity was assessed using Disease Activity Score 28 (DAS-28) scores. Logistic regression and one-way ANOVA/ ANCOVA were conducted.

Results

Individuals in the highest DII quartile had the significantly higher odds of positive C-reactive protein than those in the lowest quartile of the DII scores (OR 4.5, 95% CI 1.16 – 17.41, P = 0.029). A statistically significant downward linear trend in fat-free mass and weight were observed with increasing the DII quartiles (P = 0.003, P = 0.019, respectively). Patients in the highest DII quartile had higher DAS-28 scores than those in the first quartile (Mean difference: 1.16, 95% CI 0.51 – 1.81, P < 0.001) and second quartile of the DII scores (Mean difference: 1.0, 95% CI 0.34 – 1.65, P < 0.001).

Conclusion

Our results indicated that reducing inflammation through diet might be one of the therapeutic strategies to control and reduce the disease activity in RA patients.
i-CRISPR: a personalized cancer therapy strategy through cutting cancer-specific mutations
Authors: Jiang Junfeng , Chen Yuanyuan , Zhang Li , Jin Qishu , Wang Liujun , Xu Sha , Chen Kexin , Li Li , Zeng Tao , Fan Xingfei , Liu Tingting , Li Jiaxi , Wang Jinjiang , Han Chaofeng , Gao Fu , Yang Yanyong , Wang Yue
Published: August 2022

Developing a strategy to specifically kill cancer cells without inducing obvious damage to normal cells may be of great clinical significance for cancer treatment. In the present study, we developed a new precise personalized strategy named "i-CRISPR" for cancer treatment through adding DNA damage repair inhibitors(i) and inducing cancer cell-specific DNA double strand breaks by CRISPR. Through in vitro and in vivo experiments, we confirmed the efficacy of this strategy in multiple cancer models and revealed the mechanism of cell death. Our strategy might provide a novel concept for precise cancer therapy.
Usage and cost-effectiveness of elective oocyte freezing: a retrospective observational study
Authors: Yang Ih-Jane , Wu Ming-Yih , Chao Kuang-Han , Wei Shin-Yi , Tsai Yi-Yi , Huang Ting-Chi , Chen Mei-Jou , Chen Shee-Uan
Published: August 2022

Background

The previous model-based cost-effectiveness analyses regarding elective oocyte cryopreservation remained debatable, while the usage rate may influence the cost per live birth. The aim of this study is to disclose the usage and cost-effectiveness of the planned cryopreserved oocytes after oocyte thawing in real-world situations.

Methods

This was a retrospective single-center observational study. Women who electively cryopreserved oocytes and returned to thaw the oocytes were categorized as thawed group. The oocytes were fertilized at our center and the sperm samples for each individual was retrieved from their respective husbands. Clinical outcomes were traced and the cumulative live birth rate per thawed case was calculated. The costs from oocyte freezing cycles to oocyte thawing, and embryo transfer cycles were accordingly estimated. The cumulative cost per live birth was defined by the cumulative cost divided by the live births per thawed case.

Results

We recruited 645 women with 840 oocyte retrieval cycles for elective oocyte freezing from November 2002 to December 2020. The overall usage rate was 8.4% (54/645). After the storage duration exceeded ten years, the probabilities of thawing oocytes were 10.6%, 26.6%, and 12.7% from women who cryopreserved their oocytes at the age ≤ 35 years, 36–39 years, and ≥ 40 years, respectively (P = 0.304). Among women who thawed their oocytes, 31.5% (17/54) of women achieved at least one live birth. For the age groups of ≤ 35 years, 36–39 years, and ≥ 40 years, the cumulative live birth rates per thawed case were 63.6%, 42.3%, and 17.6%, respectively (P = 0.045), and the cumulative costs for one live birth were $11,704, $17,189, and $35,642, respectively (P < 0.001).

Conclusions

The overall usage rate was 8.4% in our cohort. The cumulative live birth rate was greatest in the youngest group and the cumulative cost per live birth was highest in the oldest group, which was threefold greater than that in the group aged ≤ 35 years. The findings added to the limited evidence of the usage rate in real-world situations, which could hopefully aid future analysis and decision-making in public health policy and for women willing to preserve fertility.

Trial registration

None.
Clinical features, molecular pathology, and immune microenvironmental characteristics of acral melanoma
Authors: Gui Jianping , Guo Zhen , Wu Di
Published: August 2022

Acral melanoma (AM) has unique biology as an aggressive subtype of melanoma. It is a common subtype of melanoma in races with darker skin tones usually diagnosed at a later stage, thereby presenting a worse prognosis compared to cutaneous melanoma. The pathogenesis of acral melanoma differs from cutaneous melanoma, and trauma promotes its development. Compared to cutaneous melanomas, acral melanomas have a significantly lighter mutational burden with more copy number variants. Most acral melanomas are classified as triple wild-type. In contrast to cutaneous melanomas, acral melanomas have a suppressive immune microenvironment. Herein, we reviewed the clinical features, genetic variants, and immune microenvironmental characteristics of limbic melanomas to summarise their unique features.
The amount of DNA combined with TP53 mutations in liquid biopsy is associated with clinical outcome of renal cancer patients treated with immunotherapy and VEGFR-TKIs
Authors: Del Re Marzia , Crucitta Stefania , Paolieri Federico , Cucchiara Federico , Verzoni Elena , Bloise Francesco , Ciampi Raffaele , Mercinelli Chiara , Capuano Annalisa , Sportiello Liberata , Martinetti Antonia , Procopio Giuseppe , Galli Luca , Porta Camillo , Bracarda Sergio , Danesi Romano
Published: August 2022

Background

Despite the increasing number of treatment options, reliable prognostic/predictive biomarkers are still missing for patients affected by metastatic clear cell renal cell carcinoma (mccRCC).

Methods

Patients with mccRCC undergoing standard first line treatment were enrolled. Blood (12 ml) was drawn at treatment baseline and circulating free DNA (cfDNA) was extracted from plasma. Next-generation sequencing (NGS) was performed on cfDNA using the Oncomine Pan-Cancer Cell-Free Assay and clinical outcomes were correlated with liquid biopsy findings.

Results

A total of 48 patients were enrolled, 12 received immunotherapy and 36 received a vascular endothelial growth factor receptor (VEGFR) tyrosine kinase inhibitor (TKI). A cfDNA cut-off of 0.883 ng/μl stratified patients based on progression-free survival (PFS) and overall survival (OS) (p = 0.001 and p = 0.008, respectively). cfDNA amount was also correlated with best response (p = 0.006). Additional cfDNA cut-points divided patients into short, intermediate and long responders, with PFS of 4.87 vs 9.13 vs 23.1 months, respectively (p < 0.001). PFS resulted to be significantly shorter in carriers of mutant TP53 compared to not carriers (p = 0.04). Patients with high cfDNA levels and mutant TP53 have the worst PFS, while patients with low cfDNA amounts and no mutations in TP53 displayed the longest PFS (p = 0.004).

Conclusions

The present study demonstrates that cfDNA and TP53 are potential predictive biomarkers of response in mccRCC to be further explored in larger and/or prospective studies.
Gene expression and methylation profiles show the involvement of POMC in primary hyperparathyroidsm
Authors: Zhou Wen-Xuan , Wang Shu , Wu Ting-Chao , Cheng Ling-Chao , Du Yao , Wu Wei , Lin Chen , Li Xin-Ying , Hu Zhong-Liang
Published: August 2022

Primary hyperparathyroidism (PHPT) is mainly caused by parathyroid adenoma, which produces excess parathyroid hormones. Its pathogenic mechanisms have not yet been fully understood. To investigate the mechanism in the pathogenesis of PHPT, the transcriptome and genome-wide DNA methylation profiles of parathyroid adenoma were analyzed. The candidate genes that may be involved in the PHPT were verified via qRT-PCR, immunohistochemistry, western blot, and methylation-specific PCR. A total of 1650 differentially expressed genes and 2373 differentially methylated regions were identified. After the integration of its transcriptome and DNA methylation data, IL6, SYP, GNA01, and pro-opiomelanocortin (POMC) were the candidate genes that demonstrated a similar pattern between their mRNA expression and DNA methylation status. Of the 4 candidate genes, POMC, a pro-peptide which is processed to a range of bioactive peptide products like ACTH, was further confirmed to be expressed at low levels at both the mRNA and protein levels, which may be due to POMC promoter hypermethylation. Hypermethylation of the POMC promoter may contribute to its low expression, which may be involved in the pathogenesis of PHPT.
ExerG: adapting an exergame training solution to the needs of older adults using focus group and expert interviews
Authors: Ringgenberg Nathalie , Mildner Sarah , Hapig Marcia , Hermann Sarah , Kruszewski Katharina , Martin-Niedecken Anna Lisa , Rogers Katja , Schättin Alexandra , Behrendt Frank , Böckler Sonja , Schmidlin Stefan , Jurt Roman , Niedecken Stephan , Brenneis Christian , Bonati Leo H. , Schuster-Amft Corina , Seebacher Barbara
Published: August 2022

Background

Exergames are playful technology-based exercise programs. They train physical and cognitive functions to preserve independence in older adults (OAs) with disabilities in daily activities and may reduce their risk of falling. This study gathered in-depth knowledge and understanding of three different user groups’ experiences in and relevant needs, worries, preferences, and expectations of technology-based training, to develop an exergame training device for OAs.

Methods

We conducted a qualitative study using semi-structured focus group interviews of primary (OAs in geriatric or neurological rehabilitation) and secondary (health professionals) end users, as well as expert interviews of tertiary end users (health insurance experts or similar), exploring user perspectives on adjusting an existing exergame to OAs’ needs. Voice-recorded interviews were transcribed by researchers and analyzed using thematic analysis (TA) following an inductive, data-driven, iterative approach.

Results

We interviewed 24 primary, 18 secondary, and 9 tertiary end users at two rehabilitation centers in Austria and Switzerland. Our TA approach identified five to six themes per user group. Themes in the primary end user group reflected aspects of safety, training goals, individuality, game environment, social interactions, and physical and technical overload. Themes in the secondary end user group comprised facets of meaningfulness, distraction through the game environment, safety, gamification elements, the availability and accessibility of the exergame. Tertiary end users’ themes addressed aspects of financial reimbursement, suitable target populations, professional training for the handling of exergame devices, training goals, and concerns about the use of exergames in geriatric rehabilitation.

Conclusions

In conclusion, an exergame for OAs must be safe, motivating and fully adaptable to the target group while promoting the return to or preservation of autonomy and independence in daily life. Our findings contribute to developing hard- and software extensions for the ExerG training device. Further research is needed to expand the validity of our findings to larger populations.
PerSVade: personalized structural variant detection in any species of interest
Authors: Schikora-Tamarit Miquel Àngel , Gabaldón Toni
Published: August 2022

Structural variants (SVs) underlie genomic variation but are often overlooked due to difficult detection from short reads. Most algorithms have been tested on humans, and it remains unclear how applicable they are in other organisms. To solve this, we develop perSVade (personalized structural variation detection), a sample-tailored pipeline that provides optimally called SVs and their inferred accuracy, as well as small and copy number variants. PerSVade increases SV calling accuracy on a benchmark of six eukaryotes. We find no universal set of optimal parameters, underscoring the need for sample-specific parameter optimization. PerSVade will facilitate SV detection and study across diverse organisms.
A survey of contextual factors and psychological needs satisfaction as correlates of youth athletes’ developmental outcomes in the Ethiopian sports academy context
Authors: Tadesse Tefera , Asmamaw Aemero , H/Mariam Sirak , Edo Beshir
Published: August 2022

Background

This study examined the contextual factors associated with psychological need satisfaction (PNS) and the predictability of the PNS components, together with the contextual factors, on the developmental outcomes of elite young athletes in the Ethiopian sports academies, and further identified differences in perception of PNS from a comparative perspective. The study used a cross-sectional survey design applying developmental and PNS theories as guiding frameworks. Samples of elite young Ethiopian athletes participated (n = 257, 47.47% were women with a mean age of 17.44 years and SD = 0.87, and 52.53% were men with a mean age of 18.25 years and SD = 1.14).

Results

Structural equation modeling showed that the three PNS domains, together with the five contextual factors positively predicted the three developmental outcomes measured (41–54% explained variance). Moreover, there were higher differences in PNS (0.55 ≤ Cohen’s d ≥ 0.71) among young athletes classified by the sport types.

Discussion

As per the findings of this study, young athletes may differ in the levels of PNS they obtained depending on the type of sports enrolled in sports academies. Also, the results of this study indicated that PNS attained may be modestly influenced by some contextual factors. It also evidenced that those developmental outcomes in elite young athletes are significantly positively associated with contextual and PNS factors. Stakeholders such as young athlete coaches, parents, sports psychologists, and administrators must consider the differing implications of program type during the elite young athletes’ participation in sports academics and the significant positive association between contextual factors, PNS, and developmental outcomes of elite young athletes.

Conclusions

In sum, the PNS of youth athletes may differ across sports types and the talent development of elite young athletes should emphasize the individual nature of the processes. Also, it can be concluded that the PNS components than the contextual factors had higher predictions of developmental outcomes.
Expanding ACMG variant classification guidelines into a general framework
Authors: Masson Emmanuelle , Zou Wen-Bin , Génin Emmanuelle , Cooper David N. , Le Gac Gerald , Fichou Yann , Pu Na , Rebours Vinciane , Férec Claude , Liao Zhuan , Chen Jian-Min
Published: August 2022

Background

The American College of Medical Genetics and Genomics (ACMG)-recommended five variant classification categories (pathogenic, likely pathogenic, uncertain significance, likely benign, and benign) have been widely used in medical genetics. However, these guidelines are fundamentally constrained in practice owing to their focus upon Mendelian disease genes and their dichotomous classification of variants as being either causal or not. Herein, we attempt to expand the ACMG guidelines into a general variant classification framework that takes into account not only the continuum of clinical phenotypes, but also the continuum of the variants’ genetic effects, and the different pathological roles of the implicated genes.

Main body

As a disease model, we employed chronic pancreatitis (CP), which manifests clinically as a spectrum from monogenic to multifactorial. Bearing in mind that any general conceptual proposal should be based upon sound data, we focused our analysis on the four most extensively studied CP genes, PRSS1, CFTR, SPINK1 and CTRC. Based upon several cross-gene and cross-variant comparisons, we first assigned the different genes to two distinct categories in terms of disease causation: CP-causing (PRSS1 and SPINK1) and CP-predisposing (CFTR and CTRC). We then employed two new classificatory categories, “predisposing” and “likely predisposing”, to replace ACMG’s “pathogenic” and “likely pathogenic” categories in the context of CP-predisposing genes, thereby classifying all pathologically relevant variants in these genes as “predisposing”. In the case of CP-causing genes, the two new classificatory categories served to extend the five ACMG categories whilst two thresholds (allele frequency and functional) were introduced to discriminate “pathogenic” from “predisposing” variants.

Conclusion

Employing CP as a disease model, we expand ACMG guidelines into a five-category classification system (predisposing, likely predisposing, uncertain significance, likely benign, and benign) and a seven-category classification system (pathogenic, likely pathogenic, predisposing, likely predisposing, uncertain significance, likely benign, and benign) in the context of disease-predisposing and disease-causing genes, respectively. Taken together, the two systems constitute a general variant classification framework that, in principle, should span the entire spectrum of variants in any disease-related gene. The maximal compliance of our five-category and seven-category classification systems with the ACMG guidelines ought to facilitate their practical application.
Pathological changes induced by Alzheimer’s brain inoculation in amyloid-beta plaque-bearing mice
Authors: Lam Suzanne , Hérard Anne-Sophie , Boluda Susana , Petit Fanny , Eddarkaoui Sabiha , Cambon Karine ,   The Brainbank Neuro-CEB Neuropathology Network, Letournel Franck , Martin-Négrier Marie-Laure , Faisant Maxime , Godfraind Catherine , Boutonnat Jean , Maurage Claude-Alain , Deramecourt Vincent , Duchesne Mathilde , Meyronet David , Fenouil Tanguy , de Paula André Mauès , Rigau Valérie , Vandenbos-Burel Fanny , Seilhean Danielle , Duyckaerts Charles , Boluda Susana , Plu Isabelle , Chiforeanu Dan Christian , Laquerrière Annie , Marguet Florent , Lannes Béatrice , Lhermitte Benoît , Picq Jean-Luc , Buée Luc , Duyckaerts Charles , Haïk Stéphane , Dhenain Marc
Published: August 2022

Alzheimer's disease (AD) is characterized by intracerebral accumulations of extracellular amyloid-β (Aβ) plaques and intracellular tau pathology that spread in the brain. Three types of tau lesions occur in the form of neuropil threads, neurofibrillary tangles, and neuritic plaques i.e. tau aggregates within neurites surrounding Aβ deposits. The cascade of events linking these lesions and synaptic or memory impairments are still debated. Intracerebral infusion of human AD brain extracts in Aβ plaque-bearing mice that do not overexpress pathological tau proteins induces tau pathologies following heterotopic seeding of mouse tau protein. There is however little information regarding the downstream events including synaptic or cognitive repercussions of tau pathology induction in these models. In the present study, human AD brain extracts (ADbe) and control-brain extracts (Ctrlbe) were infused into the hippocampus of Aβ plaque-bearing APPswe/PS1dE9 mice. Memory, synaptic density, as well as Aβ plaque and tau aggregate loads, microgliosis, astrogliosis at the inoculation site and in connected regions (perirhinal/entorhinal cortex) were evaluated 4 and 8 months post-inoculation. ADbe inoculation produced the following effects: (i) memory deficit; (ii) increased Aβ plaque deposition in proximity to the inoculation site; (iii) tau pathology induction; (iv) appearance of neuropil threads and neurofibrillary tangles next to the inoculation site with a spreading to connected regions. Neuritic plaque pathology was detected in both ADbe- and Ctrlbe-inoculated animals but ADbe inoculation increased the severity close to and at distance of the inoculation site. (v) Finally, ADbe inoculation reduced synaptic density in the vicinity to the inoculation site and in connected regions as the perirhinal/entorhinal cortex. Synaptic impairments were correlated with increased severity of neuritic plaques but not to other tau lesions or Aβ lesions, suggesting that neuritic plaques are a culprit for synaptic loss. Synaptic density was also associated with microglial load.

Graphical abstract
Targeted policy intervention for reducing red meat consumption: conflicts and trade-offs
Authors: James William H.M. , Lomax Nik , Birkin Mark , Collins Lisa M.
Published: August 2022

Background

There are a range of policies and guidelines focused on meat consumption which aim to tackle health and environmental issues. Policies are often siloed in nature and propose universal limits on consumption. Despite this, there will be a number of conflicts and trade-offs between interest groups. This study explores secondary impacts associated with guidelines issued by the World Cancer Research Fund and assesses the utility of a targeted policy intervention strategy for reducing red meat consumption.

Methods

We used highly detailed consumption data of over 5,000 individuals from the National Diet and Nutrition Survey. We firstly compared individual consumption against the policy guidelines to identify demographic groups most likely to consume above recommended levels. We then synthetically modified the food diary data to investigate the secondary impacts of adherence to the recommendations by all individuals. We assessed changes in overall consumption, nutrient intake (iron, zinc, vitamin B12, vitamin B3, fat and saturated fat) and global warming potential. We also projected future impacts under various population projections.

Results

We found that certain demographic groups are much more likely to exceed the recommendations and would therefore benefit from a targeted intervention approach. Our results provide a baseline for which the impacts of any meat substitute diets can be assessed against. Whilst secondary health benefits may be realised by reducing intake of certain nutrients (e.g. fats), negative impacts may occur due to the reduced intake of other nutrients (e.g. iron, zinc). Reduced overall consumption is likely to have implications for the wider meat industry whilst complementary impacts would occur in terms of reduced greenhouse gas emissions. Impacts will be counteracted or maybe even reversed by any substitute products, highlighting the need to carefully consider the suitability and impacts of meat-replacements.

Conclusion

The future structure of the meat industry will depend on how conflicts and trade-offs are addressed and how more holistic policy ideas are implemented. This research provides a framework for using demographic and consumption data to reduce negative trade-offs and improve policy effectiveness.
How to evaluate surgical tourism service organizations in China: indicators system development and a pilot application
Authors: Zhang Dan , Yan Yue , Liao Mei-xia , Liu Ting-fang
Published: August 2022

Background

Surgical tourism is an emerging economic sector, with the most growth potential demonstrated in China's health industry before the COVID-19 pandemic. Surgical tourism accounts for a large part of medical tourism services in China, with high requirements in terms of quality and safety. By contrast, China suffers from insufficient measurement tools and theoretical research. The aim of this study was to develop a set of reliable and feasible indicators by augmenting the Donabedian model to evaluate the quality of surgical tourism services.

Methods

A literature review and focus group interview were used to generate indicators for the quality of surgical tourism services. The basic framework of the evaluation system was based on the structure–process–outcome Donabedian model. The screening and weight setting were conducted through an analytical hierarchy process (AHP) and a two-round Delphi consultation with 13 panelists. The validity and reliability of experts were tested by the experts' positive coefficient, authority coefficient, and coordination coefficient. The reliability of the questionnaire was assessed by a pre-test distributed within an International Medical Department of a public hospital in China.

Results

Based on the Donabedian quality theory, a novel evaluation system of surgical tourism service institutions was constructed with three dimensions, nine first-level items and 39 second-level items. The three dimensions consisted of the structure (0.315), process (0.287), and outcome (0.398), with several indicators for each dimension and each indicator was given a weight. Of the two rounds of Delphi consultation, the response rates were 86.67% and 100%. The coordination coefficient of expert opinions in the two rounds of consultation were 0.49 and 0.65 (p < 0.05). For the empirical study, the self-evaluation score of a public hospital was 86, which could rate as a two-star institution.

Conclusions

Our evaluation system identified three suitable quality dimensions of surgical tourism services to improve the safety and quality of practical healthcare. It reflects the access criterion of surgical tourism institutions, provides references for the best choice of surgical services for tourists, and can be applied by healthcare managers and policy makers to allocate resources more efficiently and promote more surgical tourism services with international standards.
Functional diversification and molecular mechanisms of FLOWERING LOCUS T/TERMINAL FLOWER 1 family genes in horticultural plants
Authors: Wang Shuang , Yang Yiman , Chen Fadi , Jiang Jiafu
Published: August 2022

Flowering is an important process in higher plants and is regulated by a variety of factors, including light, temperature, and phytohormones. Flowering restriction has a considerable impact on the commodity value and production cost of many horticultural crops. InArabidopsis, theFT/TFL1gene family has been shown to integrate signals from various flowering pathways and to play a key role in the transition from flower production to seed development. Studies in several plant species of theFT/TFL1gene family have revealed it harbors functional diversity in the regulation of flowering. Here, we review the functional evolution of theFT/TFL1gene family in horticulture plants and its unique regulatory mechanisms; in addition, theFT/TFL1family of genes as an important potential breeding target is explored.