bluuebunny/crossref_metadata_2025_split huggingface dataset:
Spectrum of Germline RET variants identified by targeted sequencing and associated Multiple Endocrine Neoplasia type 2 susceptibility in China
Authors: Qi Xiao-Ping , Zhao Jian-Qiang , Fang Xu-Dong , Lian Bi-Jun , Li Feng , Wang Hui-Hong , Cao Zhi-Lie , Zheng Wei-Hui , Cao Juan , Chen Yu 
Published: April 2021

Abstract
Background
Germline RET mutations and variants are involved in development of multiple endocrine neoplasia type 2 (MEN2). The present study investigated a spectrum of RET variants, analyzed genotype-phenotype relationships, and evaluated their effect on the MEN2 phenotype in Han Chinese patients.

Methods
Targeted sequencing detected germline RET variants in 697 individuals, including 245 MEN2, 120 sporadic medullary thyroid cancer (MTC), and 15 pheochromocytoma (PHEO) patients and their 493 relatives. In silico analyses and classifications following ACMG-2015 were performed. Demographic, clinical variant types, and endocrine neoplasia molecular diagnosis records were also analyzed.

Results
Nineteen different RET mutations (18 point and 1 del/ins mutations) in 214 patients with MEN2A (97.7%) or MEN2B (2.3%) were found, of which exon 11/10 mutations accounted for 79% (169/214). Nineteen compound mutations were found in 31 patients with MEN2A. Twenty-three variants (18 single and 5 double base substitution/compound variants) non-classification were also found. Of these, 17 (3 of pathogenic, 10 of uncertain significance, 2 of likely benign and 2 as benign) were found in 31 patients with MTC/PHEO. The remaining 6 variants (4 of uncertain significance and 2 of likely benign) found in 8 carriers had no evidence of MEN2. The entire cohort showed MEN2A-related PHEO, all occurring in exons 11/10, particularly at C634. Kaplan-Meier curves showed age-dependent penetration rates of MTC and PHEO, and occurrence rates of PHEO in patients with exon 11 mutations were all higher than those within exon 10; these bilateral PHEO were always associated with exon 11 mutations (all P < 0.05). While patient offspring had PHEO, parents with MEN2A had none, the frequency was approximately 10%. Interestingly, at least 6.8% of families were adoptive. Also, 3 non-hotspot RET variants (R114H, T278N, and D489N) appeared with high frequency. Conversely, polymorphism S836S was absent.

Conclusions
These data are largely consistent with current evidence-based recommendations in the clinical practice guidelines. Diversity of RET variants or carriers may involve a different natural disease course. Further large-scale targeted sequencing studies will serve as an accurate and cost-effective approach to investigating MEN2 genotype-phenotype correlations for discovery of rare or unknown variants of RET.
Predicting cell invasion in breast tumor microenvironment from radiological imaging phenotypes
Authors: Arefan Dooman , Hausler Ryan M. , Sumkin Jules H. , Sun Min , Wu Shandong 
Published: April 2021

Abstract
Background
The abundance of immune and stromal cells in the tumor microenvironment (TME) is informative of levels of inflammation, angiogenesis, and desmoplasia. Radiomics, an approach of extracting quantitative features from radiological imaging to characterize diseases, have been shown to predict molecular classification, cancer recurrence risk, and many other disease outcomes. However, the ability of radiomics methods to predict the abundance of various cell types in the TME remains unclear. In this study, we employed a radio-genomics approach and machine learning models to predict the infiltration of 10 cell types in breast cancer lesions utilizing radiomic features extracted from breast Dynamic Contrast Enhanced Magnetic Resonance Imaging.

Methods
We performed a retrospective study utilizing 73 patients from two independent institutions with imaging and gene expression data provided by The Cancer Imaging Archive (TCIA) and The Cancer Genome Atlas (TCGA), respectively. A set of 199 radiomic features including shape-based, morphological, texture, and kinetic characteristics were extracted from the lesion volumes. To capture one-to-one relationships between radiomic features and cell type abundance, we performed linear regression on each radiomic feature/cell type abundance combination. Each regression model was tested for statistical significance. In addition, multivariate models were built for the cell type infiltration status (i.e. “high” vs “low”) prediction. A feature selection process via Recursive Feature Elimination was applied to the radiomic features on the training set. The classification models took the form of a binary logistic extreme gradient boosting framework. Two evaluation methods including leave-one-out cross validation and external independent test, were used for radiomic model learning and testing. The models’ performance was measured via area under the receiver operating characteristic curve (AUC).

Results
Univariate relationships were identified between a set of radiomic features and the abundance of fibroblasts. Multivariate models yielded leave-one-out cross validation AUCs ranging from 0.5 to 0.83, and independent test AUCs ranging from 0.5 to 0.68 for the multiple cell type invasion predictions.

Conclusions
On two independent breast cancer cohorts, breast MRI-derived radiomics are associated with the tumor’s microenvironment in terms of the abundance of several cell types. Further evaluation with larger cohorts is needed.
Experiences with Individual Placement and Support and employment – a qualitative study among clients and employment specialists
Authors: Vukadin Miljana , Schaafsma Frederieke G. , Michon Harry W. C. , de Maaker-Berkhof Marianne , Anema Johannes R. 
Published: April 2021

Abstract
Background
Individual Placement and Support (IPS) is an evidence-based, effective approach to help people with severe mental illness (SMI) achieve competitive employment. The aim of the present study is to explore experiences with Individual Placement and Support using a multifaceted implementation strategy (IPS + MIS), and competitive employment. The goal of this strategy was to improve IPS implementation by enhancing collaboration between mental health care and vocational rehabilitation stakeholders, and realizing a secured IPS funding with a ‘pay for performance’ element.

Methods
A qualitative, exploratory study was performed using semi-structured interviews with IPS clients (n = 10) and two focus groups with IPS employment specialists (n = 7 and n = 8) to collect rich information about their experiences with IPS + MIS and competitive employment. Thematic content analysis was used to analyse the data.

Results
Themes related to experiences with IPS and the multifaceted implementation strategy were identified, including the importance of discussing the client’s motivation and motives to work, facilitators and barriers to obtaining and maintaining employment, facilitators to collaboration between stakeholders, barriers to benefits counselling, organizational barriers to IPS execution and collaboration between stakeholders, financial barriers to IPS execution and experiences with the pay for performance element.

Conclusions
Although the multifaceted implementation strategy seems to contribute to an improved IPS implementation, the barriers identified in this study suggest that further steps are necessary to promote IPS execution and to help people with SMI obtain and maintain competitive employment.
Telepsychiatry adoption across hospitals in the United States: a cross-sectional study
Authors: Li Zhong , Harrison Sayward E. , Li Xiaoming , Hung Peiyin 
Published: April 2021

Abstract
Background
Access to psychiatric care is critical for patients discharged from hospital psychiatric units to ensure continuity of care. When face-to-face follow-up is unavailable or undesirable, telepsychiatry becomes a promising alternative. This study aimed to investigate hospital- and county-level characteristics associated with telepsychiatry adoption.

Methods
Cross-sectional national data of 3475 acute care hospitals were derived from the 2017 American Hospital Association Annual Survey. Generalized linear regression models were used to identify characteristics associated with telepsychiatry adoption.

Results
About one-sixth (548 [15.8%]) of hospitals reported having telepsychiatry with a wide variation across states. Rural noncore hospitals were less likely to adopt telepsychiatry (8.3%) than hospitals in rural micropolitan (13.6%) and urban counties (19.4%). Hospitals with both outpatient and inpatient psychiatric care services (marginal difference [95% CI]: 16.0% [12.1% to 19.9%]) and hospitals only with outpatient psychiatric services (6.5% [3.7% to 9.4%]) were more likely to have telepsychiatry than hospitals with neither psychiatric services. Federal hospitals (48.9% [32.5 to 65.3%]), system-affiliated hospitals (3.9% [1.2% to 6.6%]), hospitals with larger bed size (Quartile IV vs. I: 6.2% [0.7% to 11.6%]), and hospitals with greater ratio of Medicaid inpatient days to total inpatient days (Quartile IV vs. I: 4.9% [0.3% to 9.4%]) were more likely to have telepsychiatry than their counterparts. Private non-profit hospitals (− 6.9% [− 11.7% to − 2.0%]) and hospitals in counties designated as whole mental health professional shortage areas (− 6.6% [− 12.7% to − 0.5%]) were less likely to have telepsychiatry.

Conclusions
Prior to the Covid-19 pandemic, telepsychiatry adoption in US hospitals was low with substantial variations by urban and rural status and by state in 2017. This raises concerns about access to psychiatric services and continuity of care for patients discharged from hospitals.
Determinants of infant feeding practices among Black mothers living with HIV: a multinomial logistic regression analysis
Authors: Etowa Josephine , Hannan Jean , Etowa Egbe B. , Babatunde Seye , Phillips J. Craig 
Published: April 2021

Abstract
Background
Infant feeding practices are imperative for babies’ and mothers’ health and emotional wellbeing. Although infant feeding may seem simple, the decisions surrounding it are complex and have far-reaching implications for women globally. This is an especially difficult concern among mothers living with HIV because breastfeeding can transmit HIV from mother to child. This is further complicated by cultural expectations in case of Black mothers living with HIV. This paper discusses determinants of infant feeding practices among Black mothers living with HIV who were on anti-retroviral therapy (ART) in two North American cites and one African city.

Methods
A cross-sectional, multi-country survey using venue-based convenience sampling of Black mothers living with HIV was employed. The effective response rates were 89% (n = 89) in Ottawa, Canada; 67% (n = 201) in Miami, Florida, US; and 100% (n = 400) in Port Harcourt, Nigeria, equaling a total sample size of 690. Data were collected in Qualtrics and managed in Excel and SPSS. Multinomial logistic regression analyses were used to determine the factors influencing the mothers’ infant feeding practices (Exclusive Formula Feeding [EFF] = 1; Mixed Feeding [MF] = 2; and Exclusive Breastfeeding [EBF while on ART] =3).

Results
The results highlight socio-demographics, EFF determinants, and EBF determinants. The statistically significant determinants of infant feeding practices included national guideline on infant feeding, cultural beliefs and practices, healthcare systems, healthcare personnel, infant feeding attitudes, social support, and perceived stress. Mothers’ mean ages were Ottawa (36.6 ± 6.4), Miami (32.4 ± 5.8), and Port Harcourt (34.7 ± 5.7). All sampled women gave birth to least one infant after their HIV diagnoses. Statistically significant (p < .05) determinants of EFF relative to MF were the national guideline of EFF (relative risk [RR] = 218.19), cultural beliefs (RR = .15), received healthcare (RR = 21.17), received healthcare through a nurse/midwife (RR = 3.1), and perceived stress (RR = .9). Statistically significant determinants of EBF relative to MF were received healthcare (RR = 20.26), received healthcare through a nurse/midwife (RR = 2.31), functional social support (RR = 1.07), and perceived stress (RR = .9).

Conclusion
While cultural beliefs and perceived stress favoured MF over EFF, advice of healthcare workers, and the care received from a nurse/midwife improved EFF over MF. Also while the mothers’ perceived stress favoured MF over EBF, advice of their nurses or midwife and the social support improved EBF over MF. The providers advice was congruent with WHO and national guidelines for infant feeding among mothers living with HIV. These results have implications for nursing, healthcare practice, and policies on infant feeding practices for mothers living with HIV.
History for some or lesson for all? A systematic review and meta-analysis on the immediate and long-term mental health impact of the 2002–2003 Severe Acute Respiratory Syndrome (SARS) outbreak
Authors: Chau Steven W. H. , Wong Oscar W. H. , Ramakrishnan Rema , Chan Sandra S. M. , Wong Evelyn K. Y. , Li Pinky Y. T. , Raymont Vanessa , Elliot Kathryn , Rathod Shanaya , Delanerolle Gayathri , Phiri Peter 
Published: April 2021

AbstractBackgroundThe aims of this systematic review and meta-analysis are to examine the prevalence of adverse mental health outcomes, both short-term and long-term, among SARS patients, healthcare workers and the general public of SARS-affected regions, and to examine the protective and risk factors associated with these mental health outcomes.MethodsWe conducted a systematic search of the literature using databases such as Medline, Pubmed, Embase, PsycInfo, Web of Science Core Collection, CNKI, the National Central Library Online Catalog and dissertation databases to identify studies in the English or Chinese language published between January 2003 to May 2020 which reported psychological distress and mental health morbidities among SARS patients, healthcare workers, and the general public in regions with major SARS outbreaks.ResultsThe literature search yielded 6984 titles. Screening resulted in 80 papers for the review, 35 of which were included in the meta-analysis. The prevalence of post-recovery probable or clinician-diagnosed anxiety disorder, depressive disorder, and post-traumatic stress disorder (PTSD) among SARS survivors were 19, 20 and 28%, respectively. The prevalence of these outcomes among studies conducted within and beyond 6 months post-discharge was not significantly different. Certain aspects of mental health-related quality of life measures among SARS survivors remained impaired beyond 6 months post-discharge. The prevalence of probable depressive disorder and PTSD among healthcare workers post-SARS were 12 and 11%, respectively. The general public had increased anxiety levels during SARS, but whether there was a clinically significant population-wide mental health impact remained inconclusive. Narrative synthesis revealed occupational exposure to SARS patients and perceived stigmatisation to be risk factors for adverse mental health outcomes among healthcare workers, although causality could not be determined due to the limitations of the studies.ConclusionsThe chronicity of psychiatric morbidities among SARS survivors should alert us to the potential long-term mental health complications of covid-19 patients. Healthcare workers working in high-risk venues should be given adequate mental health support. Stigmatisation against patients and healthcare workers should be explored and addressed. The significant risk of bias and high degree of heterogeneity among included studies limited the certainty of the body of evidence of the review.
Drivers and consequences of child marriage in a context of protracted displacement: a qualitative study among Syrian refugees in Egypt
Authors: Elnakib Shatha , Hussein Salma Abou , Hafez Sali , Elsallab May , Hunersen Kara , Metzler Janna , Robinson W. Courtland 
Published: April 2021

Abstract
Background
Child marriage is a human rights violation disproportionately impacting girls in low- and middle-income countries. In the Middle East region, conflict and displacement have prompted concerns that families are increasingly resorting to child marriage to cope with economic insecurity and fears from sexual violence. This study set out to examine child marriage among Syrian refugees residing in Egypt with the aim of understanding drivers of child marriage in this context of displacement as well as how child marriage affects refugee girls’ wellbeing.

Methods
This analysis draws from 15 focus group discussions (FGD) conducted with married and unmarried girls, as well as parents of adolescent girls in three governorates in Egypt. FGDs included a participatory ranking exercise and photo-elicitation. Additionally, we conducted 29 in-depth interviews with girls and mothers, as well as 28 key informant interviews with health providers, community leaders, and humanitarian actors. The data was thematically analyzed using a combination of inductive and deductive coding.

Results
A prevalent phenomenon in pre-war Syria, child marriage has been sustained after the influx of Syrian refugees into Egypt by pre-existing cultural traditions and gender norms that prioritize the role of girls as wives and mothers. However, displacement into Egypt engendered different responses. For some families, displacement-specific challenges such as disruptions to girls’ education, protection concerns, and livelihood insecurity were found to exacerbate girls’ vulnerability to child marriage. For others, however, displacement into urban areas in Egypt may have contributed to the erosion of social norms that favored child marriage, leading to marriage postponement. Among girls who were married early, we identified a range of negative health and social consequences, including lack of family planning use, disruption to schooling and curtailment of girls’ mobility as well as challenges with marriage and birth registration which accentuated their vulnerability.

Conclusion
Efforts to address child marriage among Syrian refugees must acknowledge the different ways in which displacement can influence child marriage attitudes and practices and should capitalize on positive changes that have the potential to catalyze social norm change. Moreover, targeted, focused and contextualized interventions should not only focus on preventing child marriage but also on mitigating its impacts.
Learning about COVID-19: a qualitative interview study of Australians’ use of information sources
Authors: Lupton Deborah , Lewis Sophie 
Published: April 2021

AbstractBackgroundA multitude of information sources are available to publics when novel infectious diseases first emerge. In this paper, we adopt a qualitative approach to investigate how Australians learnt about the novel coronavirus and COVID-19 and what sources of information they had found most useful and valuable during the early months of the pandemic.MethodsIn-depth semi-structured telephone interviews were conducted with a diverse group of 40 Australian adults in mid-2020 about their experiences of the COVID-19 crisis. Participants were recruited through Facebook advertising. Detailed case studies were created for each participant, providing the basis of a thematic analysis which focused on the participants’ responses to the questions about COVID-19-related information sources.ResultsDiverse sources of COVID-19-related information, including traditional media, online media and in-person interactions, were actively accessed, appraised and engaged with by participants. There was a high level of interest in COVID-19 information as people grappled with uncertainty, anxiety and feeling overwhelmed. Certain key events or experiences made people become aware that the outbreak was threatening Australia and potentially themselves. Most people demonstrated keen awareness that misinformation was rife in news outlets and social media sites and that they were taking steps to determine the accuracy of information. High trust was placed in health experts, scientists and government sources to provide reliable information. Also important to participants were informal discussions with friends and family members who were experts or working in relevant fields, as well as engaging in-person in interactions and hearing from friends and family who lived overseas about what COVID-19 conditions were like there.ConclusionA constantly changing news environment raises challenges for effective communication of risk and containment advice. People can become confused, distressed and overwhelmed by the plethora of information sources and fast-changing news environment. On the other hand, seeking out information can provide reassurance and comfort in response to anxiety and uncertainty. Clarity and consistency in risk messaging is important, as is responding quickly to changes in information and misinformation. Further research should seek to identify any changes in use of and trust in information sources as time goes by.
Chronic type C3 distal humeral fracture associated with massive bone defects treated by open reduction and internal fixation with iliac crest autografts: a case report
Authors: Zha Yejun , Hua Kehan , Gong Maoqi , Jiang Xieyuan 
Published: April 2021

Abstract
Background
Chronic intercondylar fractures of the distal humerus with massive bone defects and severe comminution in the metaphysis are rare and complex injuries that are challenging for surgeons to treat, as reconstructing the triangular structure of the distal humerus is difficult and may have a severe impact on functional outcomes, especially in young patients, for whom total elbow arthroplasty is usually not a suitable option due to significant impairment in upper limb strength. Here, we report a patient in such scenario who was young and active and was treated by structural iliac bone autografting and internal fixation.

Case presentation
A 26-year-old male patient experienced a major car accident and was diagnosed with an open fracture (Gustilo-Anderson type IIIB) of the right distal humerus with massive bone defects and severe intra-articular involvement, without neurovascular injuries or other associated injuries. Surgical debridement, negative pressure vacuum sealing drainage, and immobilization by braces were initially performed, and the wound was closed after 15 days. When the wound had finally healed and the soft tissue was in good condition without infection or effusion 45 days later, this young and active patient was diagnosed with a chronic type C3 distal humeral fracture associated with massive bone defects at the supracondylar level in both columns and severe comminution at the trochlear groove. We performed surgical debridement and arthrolysis around the fracture site, and then, we successfully reconstructed the triangular structure of the distal humerus using structural iliac crest autografts in both columns as well as in the defective trochlear groove. Finally, internal fixation via a parallel double-plate configuration was performed. Over a follow-up period of 3 years, the patient achieved almost full recovery of range of motion and an excellent functional score, without minor or major postoperative complications.

Conclusion
In this study, we proposed a surgical reconstruction strategy for complex chronic distal humeral fractures associated with massive bone defects and severe articular involvement in young and active patients using metaphyseal shortening and structural iliac crest bone autografting together with open reduction and internal fixation via a parallel configuration.