bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical features, treatment, and survival outcome of primary pulmonary NUT midline carcinoma
Authors: Xie Xiaohong , Wang Liqiang , Qin Yinyin , Lin Xinqing , Xie Zhanhong , Liu Ming , Zhang Jiexia , Ouyang Ming , Liu Jun , Gu Yingying , Li Shiyue , Zhou Chengzhi 
Published: January 2020

Abstract
Objective: NUT midline carcinoma (NMC), a rare type of squamous cell carcinoma, is genetically characterised by NUT midline carcinoma family member 1 (NUTM1) gene rearrangement. NMC can arise from the lungs; however, there is no standard for the management of primary pulmonary NMC. This study aimed to confirm the clinical features and report the treatments, especially with immune checkpoint inhibitors (ICIs), and outcomes of patients with primary pulmonary NMC. Methods: A retrospective review of patients with primary pulmonary NMC was performed in the First Affiliated Hospital of Guangzhou Medical University between January 2015 and December 2018. Clinical manifestations as well as radiographic and pathological findings were recorded. Whole-exome sequencing (WES), a predictor for ICI response, was used to determine the tumour mutational burden (TMB). Treatments, especially by immune checkpoint blockade, and patient survival were analysed. Results: Seven patients with primary pulmonary mass (four men and three women) with a mean age of 42 years (range, 23–74) who were diagnosed with NMC according to NUT immunohistochemistry staining were included for analysis. One patient had a rare fusion of CHRM5-NUTM1 by tumour sequencing. A wide range of TMB (1.75–73.81 mutations/Mbp) was observed. The initial treatments included chemotherapy (5/7, 71.4%), surgery (1/7, 14.3%), and radiotherapy (1/7, 14.3%). Five patients (5/7, 71.4%) received ICIs ( programmed cell death protein 1 [ PD1]/ programmed cell death ligand 1 [ PDL1] monoclonal antibody) as second- or higher-line treatments. The median overall survival (OS) was 4.1 months (range, 1.5–26.7 months). Conclusions: Patients with primary pulmonary NMC have a poor prognosis and chemotherapy is often preferred. Checkpoint immunotherapy is a good option as the second- or higher-line treatment. TMB seems to be not associated with OS.
Sporadic and Familial Variants in NF1: An Explanation of the Wide Variability in Neurocognitive Phenotype?
Authors: Biotteau Maelle , Déjean Sébastien , Lelong Sandrine , Iannuzzi Stéphanie , Faure-Marie Nathalie , Castelnau Pierre , Rivier François , Lauwers-Cancès Valérie , Baudou Eloïse , Chaix Yves 
Published: January 2020

Abstract

Background: Cognitive impairment is the most common neurological manifestation in NF1 and occurs in 30–70% of NF1 cases. The onset and severity of each specific cognitive deficit varies greatly from child to child, with no apparent external causes. The wide variability of phenotype is the most complex aspect in terms of management and care. Despite multiple research, the mechanism underlying the high heterogeneity in NF1 has not yet been elucidated. While many studies have focused on the effects of specific and precise genetic mutations on the NF1 phenotype, little has been done on the impact of NF1 transmission (sporadic vs. familial cases). Method: We used a complete neuropsychological evaluation designed to assess five large cognitive areas: general cognitive functions (WISC-IV and EVIP); reading skills (“L’Alouette”, ODEDYS-2 and Lobrot French reading tests); phonological process (ODEDYS-2 test); visual perceptual skills (JLO, Thurstone and Corsi block tests) and attention (CPT-II), as well as psychosocial adjustments (CBCL) to explore the impact of NF1 transmission on cognitive disease manifestation in 96 children affected by NF1 (55 sporadic cases (29♀,26♂); 41 familial cases (24♀,17♂)). Results: Familial and Sporadic form of NF1 only differ in IQ expression. The families' SES impacts IQ performance but not differently between sporadic and familial variants. However, SES is lower in familial variants than in the sporadic variant of NF1. No other cognitive differences emerge between sporadic and familial NF1. Conclusions: Inheritance in NF1 failed to explain the phenotype variability in its entirety. IQ differences between groups seems in part linked to the environment where the child grows up. Children with NF1, and especially those that have early diagnoses (most often in inherited cases), must obtain careful monitoring from their early childhood, at home to strengthen investment in education and in school to early detect emerging academic problems and to quickly place them into care.
WITHDRAWN: Case-control study about the acceptance of Pegvaliase in Phenylketonuria
Authors: Krämer Johannes 
Published: January 2020

Abstract

Introduction Pegvaliase is a novel enzyme substitution therapy approved by the European Drug Administration (EDA) in May 2019 for the treatment of Phenylketonuria (PKU) in adults and children ≥16 years of age. The pegylated phenylalanine ammonia lyase is isolated from bacteria and therefore provokes multifarious immunogenic reactions. Thus, the selection of the right patient for a potential harmful treatment is essential for patient’s contentedness and long-term therapy compliance.Methods and Results 101 patients with PKU were screened for eligibility for an additional treatment with Pegvaliase. 51 patients were included in the study, 26 received a structural information about the new treatment for in mean 43±12 minutes and clinical data and plasma Phe-levels were assessed. After 4 weeks of consideration the willing of treatment initiation as well as reasons for denial are registered. 7 patients (27%) concluded in beginning of treatment. Phe-level in this (acceptance) group were higher (1180±231µmol/l) compared to the denial group (930±278µmol/l, p=0.01). After 4 weeks Phe-levels in the acceptance group remained stable (1264±311µmol/l, p=26) while Phe-levels in the denial group decreased (779±226µmol/l, p<0.01). Main reasons for denial of therapy were fear of adverse effects (47%), no need for additional treatment (26%) and the subcutaneous way of application (21%).Conclusion PKU patients have reservations against an invasive subcutaneous treatment for their disease. This is mainly caused by the form of application by syringe and the potential harmful side effects. Only less than one-third of the patients in our cohort are willing to start treatment. Besides that, most PKU patients seem to have untapped potential for self-contained reduction of Phe-levels only by being focused on their diet.
Simulation Education to Advance Emergency Medicine and Pediatric Critical Care in Nepal
Authors: Shrestha Roshana , Alianiello Lisa , Aouthmany Shaza , Kholwadwala Fenil , Deluga Nicholas , Nguyen Kevin , Shrestha Anmol , Brickman Kris 
Published: January 2020

Abstract
Background: Internationally emergency medicine is a relatively young specialty that is increasingly recognized for its potential for growth. In low middle-income countries (LMICs) like Nepal resources are quite limited and the development of new specialties such as emergency medicine can be slow to evolve. Specific areas of emergency care, including pediatric critical care have significant challenges due to clinical and educational limitations in countries like Nepal. Countries with robust healthcare systems like the United States can play a significant role in bridging this education and clinical divide in LMICs. In 2018 and 2019 the University of Toledo Medical Center in collaboration with Dhulikhel Hospital-Kathmandu University Hospital School of Medicine developed adult and pediatric critical emergency care workshops and educational sessions in an effort to improve the development of emergency medicine in Nepal. These sessions included hands-on workshops, educational lectures, and simulation participation environments in critical care procedures and decision making for both adult and pediatric emergencies. In these two workshops a total of 71 participants, including Nepalese emergency care providers ranging from pre-hospital personnel to faculty, engaged in these sessions. Results: Pre and post-workshop surveys were provided and this subjective data showed significant improvement in confidence levels along with procedural skills technique and knowledge as a result of the educational sessions provided. Conclusion: Multidisciplinary education and workshops to LMIC are necessary for development of emergency medicine and pediatric critical care. Simulation education and workshop training are highly valuable “hands on” methods to educate these healthcare providers. Highly developed healthcare systems in emergency and critical care must assist in the world wide development acute care management in these poorly resourced countries
A Community–Based System Dynamics Approach for Understanding Factors Affecting Mental Health and Health Seeking Behaviors in Beirut and Beqaa Regions of Lebanon
Authors: Noubani Aya , Diaconu Karin , ghandour Lilian , Koussa Maria El , Loffreda Giulia , Saleh Shadi 
Published: January 2020

Abstract
Background Available evidence on mental health and psychosocial problems in Lebanon is limited. Recent quantitative data suggests a high prevalence among Syrian refugees and their Lebanese host communities, with significant treatment gaps in both populations. This study aims to determine how Lebanese host and Syrian refugee communities perceive mental health, and identify health seeking behaviors and barriers to health access in two contrasting contexts of fragility.Methods A comparative qualitative study design was adopted whereas a total of 36 semi-structured interviews with Lebanese host and Syrian refugees’ community members were conducted followed by a series of four participatory group model building (GMB) sessions. Participants were recruited from two contrasting fragility contexts: Beirut and Beqaa regions. During these sessions, causal loop diagrams were elicited depicting shared understandings of factors prompting the onset of mental health and psychosocial issues; health seeking behaviors, pathways and elements affecting the rate of health improvement and maintenance were also identified.Results Community members in both settings had similar perceptions of factors contributing to mental health. Participants named long-term effects of exposure to wars, political and social effects of conflicts and financial constraints at the household level as precipitating factors prompting the onset of mental health and psychosocial stressors. Gender and integration related challenges between communities were identified as factors that affect condition onset and associated care seeking. Pathways for health seeking were found to be shaped by trust, the advice and support of loved ones, and the need to ensure confidentiality of affected individuals. Recurrent themes in discussion included significant delays in health seeking from the formal health system and widespread social stigma, prohibitive service costs, lack of health coverage, limited awareness of mental health service availability and trust in the quality of service as major barriers to access.Conclusion Mental health and psychosocial support strategies need to be gender- and integration-sensitive, primarily focused on condition prevention and awareness raising in order to strengthen health-seeking behaviors.
Optimal cut-off values for anthropometric indices of obesity as discriminators of cardiovascular risk factors in a Health Examinees study: a cross-sectional study
Authors: Cho Sooyoung , Shin Aesun , Choi Ji-Yeob , Park Sang Min , Kang Daehee , Lee Jong-Koo 
Published: January 2020

Abstract
Background Obesity is well known as a risk factor for cardiovascular disease. We aimed to determine the performance of and the optimal cutoff value for obesity indices to discriminate the presence of cardiovascular risk factors in a Health Examinees study.Methods The current study analyzed 134,195 participants with complete anthropometric and laboratory information in a Health Examinees study. The presence of cardiovascular risk factors was defined as having at least one of the following: hypertension, hyperglycemia or hyperlipidemia. The area under the receiver operating characteristic curve (AUC) and 95% confidence intervals were calculated for body mass index (BMI), waist to hip ratio (WHR), waist to height ratio (WHtR), waist circumference (WC) and conicity index (C index).Results AUC of cardiovascular risk factors was the highest for WHtR (0.677 [0.672-0.683] among men; 0.691 [0.687-0.694] among women), and the lowest for the C index (0.616 [0.611-0.622] among men; 0.645 [0.641-0.649] among women) among both men and women. The optimal cutoff values were 24.3kg/m 2 for BMI, 0.887 for WHR, 0.499 for WHtR, 84.4cm for WC and 1.20m 3/2 /kg 1/2 for the C index among men, compared with 23.4kg/m 2 for BMI, 0.832 for WHR, 0.496 for WHtR, 77.0 cm for WC and 1.18m 3/2 /kg 1/2 for the C index among women.Conclusion Obesity indices can be considered a plausible discriminator of metabolic risks.
Women’s Economic Empowerment, Participation In Decision-Making And Exposure To Violence As Risk Indicators For Early Childhood Caries
Authors: Folayan Morenike Oluwatoyin , Tantawi Maha El , Vukovic Ana , Schroth Robert , Gaffar Balgis , Al-Batayneh Ola B. , Amalia Rosa , Arheiam Arheiam , Obiyan Mary , Daryanavard Hamideh 
Published: January 2020

Abstract
Objectives In view of the association between early childhood caries [ECC] and maternal social risk factors, this study tried to determine if there were associations between indicators of processes, outputs and outcomes of women’s empowerment, and the prevalence of ECC.Methods This was an ecological study. Indicators measuring the explanatory variables - economic empowerment, decision-making and violence against women - were selected from the Integrated Results and Resources Framework of the UN-Women Strategic Plan 2018-2021 and WHO database. Indicators measuring the outcome variables - the prevalence of ECC for children aged 0 to 2 years, and 3 to 5 years - were extracted from a published literature. The general linear models used to determine the association between the outcome and explanatory variables were adjusted for economic level of countries. Regression estimates (B), 95% confidence intervals and partial eta squared (η 2 ) were calculated.Results Countries with more females living under 50% of median income had higher prevalence of ECC for 3 to 5-year olds (B= 1.82, 95% CI= 0.12, 3.52). Countries with higher percentage of women participating in their own health care decisions had higher prevalence of ECC for 0 to 2-year-olds (B= 0.85, 95% CI= 0.03, 1.67). Countries with higher percentage of women participating in decisions related to visiting family, relatives and friends had higher prevalence of ECC for 3 to 5-year-olds (B= 0.67, 95% CI= 0.03, 1.32). None of the indicators for violence against women was significantly associated with the prevalence of ECC.Conclusion Empowerment of women is a welcome social development that may have some negative impact on children’s oral health. Changes in policies and norms are needed to protect children’s oral health while empowering women.
Adverse Drug Reaction Reporting by Patients: Experience of 12 European Countries
Authors: Valinciute-Jankauskiene Agne , Kubiliene Loreta 
Published: January 2020

Abstract
Background Spontaneous reporting of suspected adverse drug reactions (ADRs) by a patient is an important method in minimizing safety risks related to medicine use. Patients as reporters of suspected ADRs are valuable participants of pharmacovigilance system. The aim of this study to examine the contribution of the patients to pharmacovigilance in European countries that started patient reporting schemes in 2012-2013 and to compare different tools used by their authorities to promote patients’ reporting.Methods A web-based questionnaire was sent to the NCAs of the Europe countries. The received answers were systematized and compared with each other through meta-analysis. Pooled standardized mean difference (SMD) with 95% confidence interval (CI) was calculated in a random or fixed-effects model. Heterogeneity was determined using the Cochrane Q-Test.Results The performed meta-analysis demonstrates that the changes in the number of received ADR report over the analyzed period increased significantly in each country. The reported statistic from Ireland and Finland significantly differ from other reviewed countries. Personalized feedback is a part of the pharmacovigilance system in 5 (41,6%) countries. Only Finland and Ireland (16,6%) do not offer specific reporting forms to patients. The common source of information on direct patient reporting is the websites of NCAs. Other tools in use are information on social media pages, leaflets, posters, etc.Conclusions This is the first insight into patients reporting schemes implemented after the significant reform of the European regulatory system for pharmacovigilance. The statistical data received from the interviewed countries indicate that it is essential for countries with minimal experience in pharmacovigilance systems with direct patient reporting schemes to organize comprehensive campaigns on ADR reporting. However, some countries do not promote the patient’s reporting schemes actively, which implies that the patient reporting is considered as mandatory and not as a supporting tool for safer medicines to consumers.
Jakyakgamcho-tang in the Relief of Delayed-Onset Muscle Soreness in Healthy Adults: study protocol for a randomized, double-blind, placebo-controlled, cross-over design clinical trial
Authors: Han Kyungsun , Kwon Ojin , Jung So-Young , Park In-hwa , Hwang Man-Suk , Park Sun-Young , Hwang Eui-Hyoung , Lee Jun-Hwan 
Published: January 2020

Abstract
Background Muscle soreness after exercise, or so-called delayed onset muscle soreness (DOMS), may cause significant changes to muscle function and may increase the risk of sports injuries. Therefore, various therapeutic strategies have been studied to help recovery after exercise. Jakyakgamcho-tang (JGT) is a widely prescribed herbal medicine to treat muscle pain and cramps in traditional Eastern medicine. The aim of this study was to evaluate the effect of JGT for reducing pain and improving muscle damage after exercise. Methods This study is a randomized, double-blind, placebo-controlled, cross-over design clinical trial. A total of 30 healthy male adults will be recruited. Subjects who voluntarily wish to participate in this study will be hospitalized for 4 days. On the first day, the subjects will perform a standardized treadmill exercise for 1 hour to induce DOMS. After the exercise, the subjects will take either JGT or a placebo for 3 days. After a more than 1 week wash-out period, the subjects will repeat the same process with the other drug. Pain intensity, calf circumference, and pain threshold will be measured as outcome measures. Blood tests and blood pressure will be measured as safety assessments. In addition, blood tests for muscle damage and inflammation markers, such as creatine kinase, interleukin-6, and C-reactive protein will be analyzed. Discussion This will be the first trial to assess the effect of JGT on exercise-induced muscle soreness. Our findings will provide valuable data to determine the clinical effects of JGT on DOMS.
An evolutionary system of mineralogy. Part I: Stellar mineralogy (&gt;13 to 4.6 Ga)
Authors: Hazen Robert M. , Morrison Shaunna M. 
Published: January 2020

AbstractMinerals preserve records of the physical, chemical, and biological histories of their origins and subsequent alteration, and thus provide a vivid narrative of the evolution of Earth and other worlds through billions of years of cosmic history. Mineral properties, including trace and minor elements, ratios of isotopes, solid and fluid inclusions, external morphologies, and other idiosyncratic attributes, represent information that points to specific modes of formation and subsequent environmental histories—information essential to understanding the co-evolving geosphere and biosphere. This perspective suggests an opportunity to amplify the existing system of mineral classification, by which minerals are defined solely on idealized end-member chemical compositions and crystal structures. Here we present the first in a series of contributions to explore a complementary evolutionary system of mineralogy—a classification scheme that links mineral species to their paragenetic modes.The earliest stage of mineral evolution commenced with the appearance of the first crystals in the universe at &gt;13 Ga and continues today in the expanding, cooling atmospheres of countless evolved stars, which host the high-temperature (T &gt; 1000 K), low-pressure (P &lt; 10-2 atm) condensation of refractory minerals and amorphous phases. Most stardust is thought to originate in three distinct processes in carbon- and/or oxygen-rich mineral-forming stars: (1) condensation in the cooling, expanding atmospheres of asymptotic giant branch stars; (2) during the catastrophic explosions of supernovae, most commonly core collapse (Type II) supernovae; and (3) classical novae explosions, the consequence of runaway fusion reactions at the surface of a binary white dwarf star. Each stellar environment imparts distinctive isotopic and trace element signatures to the micro- and nanoscale stardust grains that are recovered from meteorites and micrometeorites collected on Earth’s surface, by atmospheric sampling, and from asteroids and comets. Although our understanding of the diverse mineral-forming environments of stars is as yet incomplete, we present a preliminary catalog of 41 distinct natural kinds of stellar minerals, representing 22 official International Mineralogical Association (IMA) mineral species, as well as 2 as yet unapproved crystalline phases and 3 kinds of non-crystalline condensed phases not codified by the IMA.
A structural study of size-dependent lattice variation: In situ X-ray diffraction of the growth of goethite nanoparticles from 2-line ferrihydrite
Authors: Heaney Peter J. , Oxman Matthew J. , Chen Si Athena 
Published: January 2020

AbstractUnlike most native metals, the unit cells of metal oxides tend to expand when crystallite sizes approach the nanoscale. Here we review different models that account for this behavior, and we present structural analyses for goethite (α-FeOOH) crystallites from ~10 to ~30 nm. The goethite was investigated during continuous particle growth via the hydrothermal transformation of 2-line ferrihydrite at pH 13.6 at 80, 90, and 100 °C using time-resolved, angle-dispersive synchrotron X-ray diffraction. Ferrihydrite gels were injected into polyimide capillaries with low background scattering, increasing the sensitivity for detecting diffraction from goethite nanocrystals that nucleated upon heating. Rietveld analysis enabled high-resolution extraction of crystallographic and kinetic data. Crystallite sizes for goethite increased with time at similar rates for all temperatures.With increasing crystallite size, goethite unit-cell volumes decreased, primarily as a result of contraction along the c-axis, the direction of closest-packing (space group Pnma). We introduce the coefficient of nanoscale contraction (CNC) as an analog to the coefficient of thermal expansion (CTE) to compare the dependence of lattice strain on crystallite size for goethite and other metal oxides, and we argue that nanoscale-induced crystallographic expansion is quantitatively similar to that produced when goethite is heated. In addition, our first-order kinetic model based on the Johnson-Mehl-Avrami-Kolmogorov (JMAK) equation yielded an activation energy for the transformation of ferrihydrite to goethite of 72.74 ± 0.2 kJ/mol, below reported values for hematite nucleation and growth.