bluuebunny/crossref_metadata_2025_split huggingface dataset:
Microsatellite Instability Is Insufficiently Used as a Biomarker for Lynch Syndrome Testing in Clinical Practice
Authors: Papadopoulou Eirini , Rigas George , Fountzilas Elena , Boutis Anastasios , Giassas Stylianos , Mitsimponas Nikolaos , Daliani Danai , Ziogas Dimitrios C , Liontos Michalis , Ramfidis Vasileios , Christophilakis Charalampos , Matthaios Dimitris , Floros Theofanis , Florou-Chatzigiannidou Chrysiida , Agiannitopoulos Konstantinos , Meintani Angeliki , Tsantikidi Aikaterini , Katseli Anastasia , Potska Kevisa , Tsaousis Georgios , Metaxa-Mariatou Vasiliki , Nasioulas George 
Published: January 2024

PURPOSE The pan-cancer presence of microsatellite instability (MSI)–positive tumors demonstrates its clinical utility as an agnostic biomarker for identifying immunotherapy-eligible patients. Additionally, MSI is a hallmark of Lynch syndrome (LS), the most prevalent cancer susceptibility syndrome among patients with colorectal and endometrial cancer. Therefore, MSI-high results should inform germline genetic testing for cancer-predisposing genes. However, in clinical practice, such analysis is frequently disregarded. METHODS A next-generation sequencing (NGS)–based technique was used for MSI analysis in 4,553 patients with various tumor types. Upon request, somatic BRAF gene analysis was conducted. In addition, hereditary testing of cancer-associated genes was performed in MSI-high cases using a capture-based NGS protocol. MLH1 promoter methylation analysis was conducted retrospectively in patients with colorectal and endometrial cancer to further investigate the origin of MSI at the tumor level. RESULTS The MSI positivity rate for the entire cohort was 5.27%. Endometrial, gastric, colorectal, urinary tract, and prostate cancers showed the highest proportion of MSI-high cases (15.69%, 8.54%, 7.40%, 4.55%, and 3.19%, respectively). A minority of 45 patients (22.73%) among the MSI-high cases underwent germline testing to determine whether the mismatch repair pathway deficiency was inherited. 24.44% of those who performed the genetic test carried a pathogenic variant in an LS-associated gene. Three MSI-high individuals had non-LS gene alterations, including BRCA1, BRCA2, and CDKN2A pathogenic variants, indicating the presence of non–LS-associated gene alterations among MSI-high patients. CONCLUSION Although MSI analysis is routinely performed in clinical practice, as many as 77% of MSI-high patients do not undergo LS genetic testing, despite international guidelines strongly recommending it. BRAF and MLH1 methylation analysis could shed light on the somatic origin of MSI in 42.50% of the MSI-high patients; however, MLH1 analysis is barely ever requested in clinical practice.
Effect of a 6-Week Carbohydrate-Reduced High-Protein Diet on Levels of FGF21 and GDF15 in People With Type 2 Diabetes
Authors: Richter Michael M , Thomsen Mads N , Skytte Mads J , Kjeldsen Sasha A S , Samkani Amirsalar , Frystyk Jan , Magkos Faidon , Holst Jens J , Madsbad Sten , Krarup Thure , Haugaard Steen B , Wewer Albrechtsen Nicolai J 
Published: January 2024

Abstract

Context
Fibroblast growth factor 21 (FGF21) and growth differentiation factor 15 (GDF15) are increased in type 2 diabetes and are potential regulators of metabolism. The effect of changes in caloric intake and macronutrient composition on their circulating levels in patients with type 2 diabetes are unknown.

Objective
To explore the effects of a carbohydrate-reduced high-protein diet with and without a clinically significant weight loss on circulating levels of FGF21 and GDF15 in patients with type 2 diabetes.

Methods
We measured circulating FGF21 and GDF15 in patients with type 2 diabetes who completed 2 previously published diet interventions. Study 1 randomized 28 subjects to an isocaloric diet in a 6 + 6-week crossover trial consisting of, in random order, a carbohydrate-reduced high-protein (CRHP) or a conventional diabetes (CD) diet. Study 2 randomized 72 subjects to a 6-week hypocaloric diet aiming at a ∼6% weight loss induced by either a CRHP or a CD diet. Fasting plasma FGF21 and GDF15 were measured before and after the interventions in a subset of samples (n = 24 in study 1, n = 66 in study 2).

Results
Plasma levels of FGF21 were reduced by 54% in the isocaloric study (P &lt; .05) and 18% in the hypocaloric study (P &lt; .05) in CRHP-treated individuals only. Circulating GDF15 levels increased by 18% (P &lt; .05) following weight loss in combination with a CRHP diet but only in those treated with metformin.

Conclusion
The CRHP diet significantly reduced FGF21 in people with type 2 diabetes independent of weight loss, supporting the role of FGF21 as a “nutrient sensor.” Combining metformin treatment with carbohydrate restriction and weight loss may provide additional metabolic improvements due to the rise in circulating GDF15.
Βιβλιοκρισία: Δ. ΚΑΚΛΑΜΑΝΟΣ, Ο Άγιος Θεόδωρος ο Στουδίτης και το αγιολογικό του έργο. Συμβολή στη μελέτη της εκκλησιαστικής γραμματείας της μεσοβυζαντινής περιόδου, [Ανάλεκτα Βλατάδων 70], Πατριαρχικόν Ίδρυμα Πατερικών Μελετών, Θεσσαλονίκη 2018
Authors: ΠΕΤΡΟΥΓΑΚΗ-ΚΑΛΑΪΤΖΑΝΤΩΝΑΚΗ Δέσποινα 
Published: January 2024

Βιβλιοκρισία: Δ. Κακλαμάνος, Ο Άγιος Θεόδωρος ο Στουδίτης και το αγιολογικό του έργο. Συμβολή στη μελέτη της εκκλησιαστικής γραμματείας της μεσοβυζαντινήςπεριόδου, [Ανάλεκτα Βλατάδων 70], Πατριαρχικόν Ίδρυμα Πατερικών Μελετών, Θεσσαλονίκη 2018
The Gender-Sensitive Depression Screening GSDS-26 – Polish adaptation and validation of the tool and links to gender stereotypes
Authors: Chodkiewicz Jan , Joanna Miniszewska , Monika Talarowska , Michał Seweryn Karbownik , Anne Maria Möller-Leimkühler 
Published: January 2024

Cel pracyBadanie miało na celu stworzenie polskiej wersji skali do badania depresji u mężczyzn GSDS 26 AM Möller-Leimkühler i współpracowników oraz ocenę jej trafności i rzetelności. Narzędzie mierzy ogólny poziom depresji oraz następujące czynniki: depresyjność, odczuwanie stresu, agresywność, kontrola emocji, spożywanie alkoholu oraz zachowania ryzykowne. Sprawdzono również związki depresji mierzonej GSDS 25 z dostosowaniem się do stereotypowych ról męskich.MetodaW badaniu wzięło udział 1087 osób - 746 mężczyzn oraz 341 kobiet z grupy nieklinicznej. Obok adaptowanej metody zastosowano Skalę Depresji Becka – BDI, Gotland Male Depression Scale GMDS Rutza, Conformity to Masculine Norms Inventory CMNI 22 Mahalika.WynikiWyniki eksploracyjnej i konfirmacyjnej analizy czynnikowej potwierdziły przyjętą strukturę sześcioczynnikową. Współczynniki alfa Cronbacha były zadawalające i porównywalne z wersją oryginalną – wynik ogólny wynosił α =0,92, wynik dla pięciu z sześciu podskal α pomiędzy 0,80 a 0,85, a dla podskali spożywanie alkoholu α= 0,63. Wyniki GSDS 26, podobnie jak w oryginale, wykazywały słabe i umiarkowane związki z dostosowywaniem się do stereotypowych ról męskichWnioskiGSDS ma zadawalające właściwości psychometryczne i nadaje się do wykorzystania w badaniach poziomu depresji charakterystycznej dla mężczyzn.
Península de Baja California: mamíferos y garrapatas
Authors: Meza Beatriz , Galván Carolina , Rojas Mario 
Published: January 2024

Descubre la península de Baja California, un mosaico de biodiversidad en México. Desde montañas hasta costas, este lugar único revela cómo la vida silvestre, desde microorganismos hasta mamíferos, contribuyen a la salud del ecosistema.
The experiences of internationally educated nurses who joined the nursing workforce in England
Authors: Lanada Jose Ariel , Culligan Kate 
Published: January 2024

Objectives: There is limited literature on the experiences of internationally educated nurses (IENs) who have joined NHS trusts in England in the past 20 years. The objectives of this integrative review included exploring and analysing the experiences of IENs in the NHS in England and identifying the cultural, pastoral and training needs of IENs during their first 2 years working in England and providing research-informed recommendations to better support IENs. Design: An integrative review of primary research studies using quantitative, qualitative, and mixed methods of data collection. Data source: CINAHL, British Nursing Index and Google Scholar. Results: Nine articles met the inclusion criteria for this integrative review. All articles contributed to the findings of three main analytical themes: expectations, challenges and belongingness. Conclusion: Limited research fully met the search criteria. This was concerning since IENs have been working in the NHS for decades, yet so few primary studies have been conducted into their experiences. The findings were in line with previous studies, which found that IENs faced challenges both in the workplace and in settling into an English way of life, and often reported feeling that they were not treated equally to their English counterparts. This integrative review raises issues and increases awareness of how the NHS in England can better support IENs transitioning into their new life and ways of working, to further aid recruitment and retention of the international nursing workforce.
Longitudinal analysis of antibody responses to Plasmodium vivax sporozoite antigens following natural infection
Authors: Thawornpan Pongsakorn , Nicholas Justin , Malee Chayapat , Kochayoo Piyawan , Wangriatisak Kittikorn , Tianpothong Pachara , Ntumngia Francis Babila , J. Barnes Samantha , H. Adams John , Chootong Patchanee 
Published: January 2024

Background
P. vivax malaria is a major global health burden hindering social and economic development throughout many tropical and sub-tropical countries. Pre-erythrocytic (PE) vaccines emerge as an attractive approach for the control and elimination of malaria infection. Therefore, evaluating the magnitude, longevity and prevalence of naturally acquired IgG antibody responses against PE candidate antigens is useful for vaccine design.

Methodology/Principal findings
The antigenicity of five recombinant PE antigens (PvCSP-VK210, PvSSP3, PvM2-MAEBL, PvCelTOS and PvSPECT1) was evaluated in plasma samples from individuals residing in low transmission areas in Thailand (Ranong and Chumphon Provinces). The samples were collected at the time of acute vivax malaria and 90, 270 and 360 days later. The prevalence, magnitude and longevity of total IgG and IgG subclasses were determined for each antigen using the longitudinal data. Our results showed that seropositivity of all tested PE antigens was detected during infection in at least some subjects; anti-PvCSP-VK210 and anti-PvCelTOS antibodies were the most frequent. Titers of these antibodies declined during the year of follow up, but notably seropositivity persisted. Among seropositive subjects at post-infection, high number of subjects possessed antibodies against PvCSP-VK210. Anti-PvSSP3 antibody responses had the longest half-life. IgG subclass profiling showed that the predominant subclasses were IgG1 and IgG3 (cytophilic antibodies), tending to remain detectable for at least 360 days after infection.

Conclusions/Significance
The present study demonstrated the magnitude and longevity of serological responses to multiple PE antigens of P. vivax after natural infection. This knowledge could contribute to the design of an effective P. vivax vaccine.
Protocol for a scoping review on technology use and sexual and gender minority youth and mental health
Authors: Doll Kaitrin , Craig Shelley , Lee Yoonhee , Kourgiantakis Toula , Lee Eunjung , Dicesare Dane , Pearson Ali , Vo Tin 
Published: January 2024

Introduction
Research indicates that sexual and gender minority youth [SGMY] may engage more with information communication technologies [ICTs] more than their non-SGMY counterparts Craig SL et al. 2020. While scholarship generally explores youth’s use of ICTs, there are gaps in scholarship that connect SGMY, their ICT engagement and influences to mental health. This scoping review will synthesize the literature that connects these core concepts in order to better understand the influence ITCs have on the mental health of SGMY and to develop a more fulsome understanding of this emerging area of literature.

Methods and analysis
Following the scoping review framework of Arksey and O’Malley, the search will be conducted in the PsycINFO [Ovid interface, 1980-], MEDLINE [Ovid interface, 1948-], CINAHL [EBSCO interface, 1937-], Sociological Abstracts [ProQuest interface, 1952-], Social Services Abstracts [ProQuest interface, 1979-], and Scopus. Descriptive summaries and thematic analysis will summarize the articles that meet the inclusion criteria using an extraction table.

Ethics and dissemination
The review outlined in this paper provides an overview of information that exists on the technology use of SGMY, ICTs and the interconnection with mental health. Results will be disseminated through peer reviewed journals and national and international conferences. As information collected for this paper as is retrieved from publicly available sources, ethics approval is not required.
Expressive suppression moderates the relationship between PTSD from COVID-19 and somatization and validation of the Arabic version of Patient Health Questionnaire-15 (PHQ-15)
Authors: Nehme Antonio , Moussa Sara , Fekih-Romdhane Feten , Yakın Ecem , Hallit Souheil , Obeid Sahar , Haddad Georges 
Published: January 2024

Background
Lebanese adults have been crippled for years by several crises, including the lately COVID-19 pandemic. These massive civilian traumas have increased the risk of post-traumatic stress disorder (PTSD) in this population. Extensive literature pointed to the association between PTSD and somatization; however, the nature of this relationship remains unknown. We sought to contribute further to work in this area by testing the moderating role of emotion regulation in the relationship between COVID-19- related PTSD and somatization. As a secondary objective, we aimed to examine the psychometric properties of an Arabic translation of the somatization measure Patient Health Questionnaire-15 (PHQ-15) in terms of factorial validity and internal consistency before its use in the present study.

Methods
This cross-sectional study was conducted between September and October 2021. A total of 403 Lebanese adults residing in Lebanon were recruited. Eligible participants received an online link to the survey. The Patient Health Questionnaire-15 was used to assess somatization, PTSD Checklist–Civilian Version for PTSD and Emotion Regulation Questionnaire for emotion regulation.

Results
The results of the exploratory factor analysis (EFA) revealed a three-factor solution explaining 48.79% of the common variance. Confirmatory Factor Analysis results of the three-factor model obtained in the EFA indicated a good fit with a significant CFI of 0.98, TLI 0.98 and a GFI of .97, a RMSEA of .04 [90% CI .01, .06]. Higher PTSD symptoms were associated with somatization. In addition, we found that one specific ER component, i.e. expressive suppression, significantly moderated the relationship between PTSD from the COVID pandemic and somatization. In particular, the interaction PTSD from the COVID-19 pandemic by expressive suppression was significantly associated with somatization; at low, medium and high levels of expressive suppression, higher PTSD from the COVID-19 pandemic was significantly associated with higher somatization scores. As for our secondary objective, findings revealed that the Arabic version of the PHQ-15 exhibited good psychometric properties. In particular, the scale yielded a three-factor structure, and good internal consistency (Cronbach’s alpha = 0.87).

Conclusion
The moderating role of expressive suppression on the link between PTSD and somatization presents a novel finding in the field of trauma. Additionally, making a psychometrically sound Arabic version of the PHQ-15 available is a valuable addition to the literature.
Application of elastic net regression for modeling COVID-19 sociodemographic risk factors
Authors: Moxley Tristan A. , Johnson-Leung Jennifer , Seamon Erich , Williams Christopher , Ridenhour Benjamin J. 
Published: January 2024

Objectives
COVID-19 has been at the forefront of global concern since its emergence in December of 2019. Determining the social factors that drive case incidence is paramount to mitigating disease spread. We gathered data from the Social Vulnerability Index (SVI) along with Democratic voting percentage to attempt to understand which county-level sociodemographic metrics had a significant correlation with case rate for COVID-19.

Methods
We used elastic net regression due to issues with variable collinearity and model overfitting. Our modelling framework included using the ten Health and Human Services regions as submodels for the two time periods 22 March 2020 to 15 June 2021 (prior to the Delta time period) and 15 June 2021 to 1 November 2021 (the Delta time period).

Results
Statistically, elastic net improved prediction when compared to multiple regression, as almost every HHS model consistently had a lower root mean square error (RMSE) and satisfactory R2 coefficients. These analyses show that the percentage of minorities, disabled individuals, individuals living in group quarters, and individuals who voted Democratic correlated significantly with COVID-19 attack rate as determined by Variable Importance Plots (VIPs).

Conclusions
The percentage of minorities per county correlated positively with cases in the earlier time period and negatively in the later time period, which complements previous research. In contrast, higher percentages of disabled individuals per county correlated negatively in the earlier time period. Counties with an above average percentage of group quarters experienced a high attack rate early which then diminished in significance after the primary vaccine rollout. Higher Democratic voting consistently correlated negatively with cases, coinciding with previous findings regarding a partisan divide in COVID-19 cases at the county level. Our findings can assist regional policymakers in distributing resources to more vulnerable counties in future pandemics based on SVI.
Tuberculous pericarditis in adolescents: A case series
Authors: Paramitha Winda , Murni Indah Kartika , Arguni Eggi , Setyowireni Dwikisworo 
Published: January 2024

Tuberculosis (TB) is one of the major causes of childhood mortality, especially in endemic areas. In 2013, the World Health Organization (WHO) estimated 550,000 new cases and 80,000 deaths due to TB among children. Around 70-80% of the cases were pulmonary TB, while the rest were extra-pulmonary TB.1
Tuberculous pericarditis accounts for only 8% of all TB cases, however, tuberculosis is the main cause of pericarditis in high-TB-burden countries, including Indonesia.2 The mortality rate reached 17-40% and is affected by treatment adequacy.3 Without adequate therapy, the mean life expectancy is 3.7 months, with only 20% surviving to the sixth month.4 A 2004 study reported that successful treatment of TB in children depends on several factors, such as treatment compliance, timing and accuracy of diagnosis, concurrent human immunodeficency virus (HIV) infection and its clinical stage of disease, malnutrition, and drug resistance.5 Adolescents and young adults are at the highest risks of having TB.6 We report here on three cases of tuberculous pericarditis in adolescents and their outcomes following pericardiocentesis and medication.
Bowel Stiffness Assessed by Shear-wave Ultrasound Elastography Predicts Disease Behavior Progression in Patients with Crohn’s Disease
Authors: Chen Yu-Jun , He Jin-Shen , Xiong Shan-Shan , Li Man-Ying , Chen Shu-Ling , Chen Bai-Li , Qiu Yun , Xia Qing-Qing , He Yao , Zeng Zhi-Rong , Chen Min-Hu , Xie Xiao-Yan , Mao Ren 
Published: January 2024

Objectives:
There is a lack of reliable predictors of disease behavior progression in patients with Crohn’s disease (CD). Real-time shear-wave elastography (SWE) is a novel method for evaluating tissue stiffness. However, its value for assessing CD has not yet been investigated. We aimed to explore the value of SWE and other ultrasound parameters at diagnosis in predicting CD behavior progression.

Methods:
We retrospectively collected data from CD patients with the non-stenotic non-penetrating disease (B1 phenotype based on the Montreal classification). All patients underwent intestinal ultrasound at baseline and were followed up. The endpoint was defined as disease behavior progression to stricturing (B2) or penetrating (B3) disease. Cox regression analysis was performed for the association between baseline characteristics and subsequent endpoints. Additionally, a multivariate nomogram was established to predict the risk of disease behavior progression quantitatively.

Results:
A total of 130 CD patients with B1 phenotype were enrolled. Twenty-seven patients (20.8%) developed B2 or B3 disease, with a median follow-up of 33 months. Multivariate analysis identified that SWE was the only independent predictor of disease behavior progression (HR 1.08, 95% CI 1.03–1.12, P=0.001). A reverse of the hazard ratio appeared at the cut-off 12.75 kPa. The nomogram incorporating SWE and other clinical characteristics showed a good prediction performance (AUC=0.792).

Conclusions:
Intestinal stiffness assessed using SWE is an independent predictor of disease behavior progression in patients with CD. CD patients with SWE >12.75 kPa at diagnosis are prone to progress toward stricturing or penetrating diseases.
Steroid metabolites producing adenoma: a case report
Authors: Ivashchenko K. V. , Komshilova K. A. , Molashenko N. V. , Lavreniuk A. A. , Lapshina A. M. , Kim I. V. , Ioutsi V. A. , Antsupova M. A. , Utkina M. V. , Platonova N. M. , Troshina E. A. , Mokrysheva N. G. 
Published: January 2024

Hyperandrogenism is the most prevalent cause of menstrual cycle abnormalities and infertility in women. Here, we present a case of a 32-year-old woman with a 7-year history of menstrual irregularity and infertility. Laboratory test results revealed elevated 17-hydroxyprogesterone, progesterone 21-deoxycortisol. Abdominal computed tomography found a 3,9х2,9х2,6 cm left adrenal tumor. Non-classic congenital adrenal hyperplasia was diagnosed initially, however, treatment with supraphysiological doses of dexamethasone proved ineffective and progesterone and 17-hydroxyprogesterone levels remained high. Genetic testing revealed no 21-hydroxylase deficiency. Laparoscopic adrenalectomy was performed with subsequent pathological report being compatible with an adrenal cortical adenoma. 17-hydroxyprogesterone, progesterone 21-deoxycortisol levels returned to the normal range postoperatively and the patient’s menstrual cycle normalized without additional medication. Steroid metabolites producing adenomas are also extremely rare with only a few cases found in patients without previous CAH diagnosis. When a patient with clinically and biochemically diagnosed NCCAH demonstrate no typical features and shows poor response to steroid therapy, the patient should receive multisteroid LC–MS/MS assay for glucocorticoids and androgens, adrenal and ovarian imaging and undergo CYP21A2 gene mutation analysis.