bluuebunny/crossref_metadata_2025_split huggingface dataset:
Aberrant Splicing of SDHC in Families With Unexplained Succinate Dehydrogenase-Deficient Paragangliomas
Authors: De Sousa Sunita M C , Toubia John , Hardy Tristan S E , Feng Jinghua , Wang Paul , Schreiber Andreas W , Geoghegan Joel , Hall Rachel , Rawlings Lesley , Buckland Michael , Luxford Catherine , Novos Talia , Clifton-Bligh Roderick J , Poplawski Nicola K , Scott Hamish S , Torpy David J 
Published: June 2020

Abstract

Context
Germline mutations in the succinate dehydrogenase genes (SDHA/B/C/D, SDHAF2—collectively, “SDHx”) have been implicated in paraganglioma (PGL), renal cell carcinoma (RCC), gastrointestinal stromal tumor (GIST), and pituitary adenoma (PA). Negative SDHB tumor staining is indicative of SDH-deficient tumors, usually reflecting an underlying germline SDHx mutation. However, approximately 20% of individuals with SDH-deficient tumors lack an identifiable germline SDHx mutation.

Methods
We performed whole-exome sequencing (WES) of germline and tumor DNA followed by Sanger sequencing validation, transcriptome analysis, metabolomic studies, and haplotype analysis in 2 Italian-Australian families with SDH-deficient PGLs and various neoplasms, including RCC, GIST, and PA.

Results
Germline WES revealed a novel SDHC intronic variant, which had been missed during previous routine testing, in 4 affected siblings of the index family. Transcriptome analysis demonstrated aberrant SDHC splicing, with the retained intronic segment introducing a premature stop codon. WES of available tumors in this family showed chromosome 1 deletion with loss of wild-type SDHC in a PGL and a somatic gain-of-function KIT mutation in a GIST. The SDHC intronic variant identified was subsequently detected in the second family, with haplotype analysis indicating a founder effect.

Conclusions
This is the deepest intronic variant to be reported among the SDHx genes. Intronic variants beyond the limits of standard gene sequencing analysis should be considered in patients with SDH-deficient tumors but negative genetic test results.
VLDLR is not essential for reelin-induced neuronal aggregation but suppresses neuronal invasion into the marginal zone
Authors: Hirota Yuki , Nakajima Kazunori 
Published: June 2020

ABSTRACT
In the developing neocortex, radially migrating neurons stop migration and form layers beneath the marginal zone (MZ). Reelin plays essential roles in these processes via its receptors, apolipoprotein E receptor 2 (ApoER2) and very low density lipoprotein receptor (VLDLR). Although we recently reported that reelin causes neuronal aggregation via ApoER2, which is thought to be important for the subsequent layer formation, it remains unknown what effect reelin exerts via the VLDLR. Here, we found that ectopic reelin overexpression in the Vldlr-mutant mouse cortex causes neuronal aggregation, but without an MZ-like cell-sparse central region that is formed when reelin is overexpressed in the normal cortex. We also found that both the early-born and late-born Vldlr-deficient neurons invade the MZ and exhibit impaired dendrite outgrowth from before birth. Rescue experiments indicate that VLDLR suppresses neuronal invasion into the MZ via a cell-autonomous mechanism, possibly mediated by Rap1, integrin and Akt. These results suggest that VLDLR is not a prerequisite for reelin-induced neuronal aggregation and that the major role of VLDLR is to suppress neuronal invasion into the MZ during neocortical development.
Evaluation of the Rational Analgesic use in elderly adults: A cross-sectional study
Authors: Mercan Baspınar Melike , Basat Okcan 
Published: June 2020

Objectives: To assess inappropriate analgesic use (IAU) by comparison of STOPP/START Version-2 and Beers 2019 criteria.
Methods: This is a cross-sectional study of 331 elderly patients admitted to family medicine clinics at a tertiary hospital between February and July 2018. Data were collected from face-to-face surveys, including informed patient consent and electronic drug monitoring databases.
Results: The presence of IAU by STOPP version2 was higher than the Beers criteria (19.6%, 14.5%, respectively; P<0.04; Z= –2.5) with a moderate agreement (Kappa= 0.458). The number of drugs and pain score were predictors of IAU. The most commonly caused IAU was diclofenac, although naproxen was the most used analgesic. Almost 39% of diclofenac use, 18.5% of naproxen use, and 33% of etodolac use were IAU. Most commonly, IAU reasons were; (i) NSAID use in hearth failure (Beers) (ii) NSAID use with an antiplatelet agent(s) without PPI (STOPP).
Conclusions: The difference between criteria in terms of IAU was significant in favor of STOPP V2.
doi: https://doi.org/10.12669/pjms.36.5.2331
How to cite this:Baspınar MM, Basat O. Evaluation of the Rational Analgesic use in elderly adults: A cross-sectional study. Pak J Med Sci. 2020;36(5):1063-1068. doi: https://doi.org/10.12669/pjms.36.5.2331
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Evaluation of gender equality attitudes of Turkish and Foreign Nursing Students at a Private University
Authors: Tekbaş Serap , Pola Ganna 
Published: June 2020

Objective: To determine the gender equality attitudes of nursing students studying at a private university, the sociodemographic factors affecting gender equality, and the difference in gender attitudes between Turkish and foreign students.
Methods: This cross-sectional study was carried out in the Faculty of Nursing at Near East University in March and April 2019. Three hundred six students studying in Turkish and English nursing programs in the thirdyear of study were included in the research. A sociodemographic questionnaire and the GEM scale were used as the data collection tools.
Results: The mean age of the participants was 21.11±3.88. 76.1% of the students were female and 33.3 students were foreign. The Gender Equality Men scores of the Turkish and foreign students were significantly different (p=0.001). Gender, the educational level of the father, a history of violence in the family, and talking about family and sexual issues affected the gender attitudes of all students.
Conclusion: The results of the present study indicate that culture, gender, family education, and a history of violence in the family affected the gender equality scores of the nursing students.
doi: https://doi.org/10.12669/pjms.36.5.2365
How to cite this:Tekbas S, Pola G. Evaluation of gender equality attitudes of Turkish and Foreign Nursing Students at a Private University. Pak J Med Sci. 2020;36(5):884-889. doi: https://doi.org/10.12669/pjms.36.5.2365
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Seeking motivation for selecting Medical Profession as a Career Choice
Authors: Hassan Madeeha , Shahzad Fatima , Waqar SH 
Published: June 2020

Objective: To determine the motivational factors of medical students for selecting medical career as a profession.
Methods: This was a survey based cross-sectional study. Medical students of first and second year from private and public medical colleges of Rawalpindi and Islamabad were recruited via convenient sampling and a self-based questionnaire was distributed to them. Besides demographics, questions were based on factors influencing medical students to pursue medical career. Data was collected and descriptive analysis was done using SPSS 21.
Results: A total of 300 medical students participated in the study; 129 (43%) of them were males and 171 (57%) were females with mean age of 19.35 years. Among Humanitarian based questions; Serving Humanity gained highest percentage, followed by sympathies for mankind and health for everyone sequentially. In Societal factors, Prestigious Profession and in Scientific factors based questions Challenging Field ranked first. Amongst all the questions Prestigious Profession takes the lead.
Conclusion: Major motivation behind selecting medical field was prestigious profession followed by altruism. By understanding medical students’ motivational factors for pursuing medical field we would be able to analyze the future trend of professionals.
doi: https://doi.org/10.12669/pjms.36.5.2799
How to cite this:Hassan M, Shahzad F, Waqar SH. Seeking motivation for selecting Medical Profession as a Career Choice. Pak J Med Sci. 2020;36(5):941-945. doi: https://doi.org/10.12669/pjms.36.5.2799
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Happy 2 Smell (H2S)
Authors: Santos S. , Pereira A. , Duarte D. , Fortunato J. 
Published: June 2020

A problem was initially identified: the emission of polluting gases into the atmosphere, namely hydrogen sulphide, H2S, by the tanneries close to our school district. After carrying out theoretical investigations in Biology and Chemistry, the students developed an idea for a project, which consisted of creating a biological filter, with a porous matrix that could be easily traversed by the H2S gas, using, for this purpose, the dry fruit of the plant Luffa aegyptiaca. This material possesses a high porosity and good physical and chemical resistance, serving as a support matrix for sulphur bacteria and, initially, also their culture medium. In collaboration with Alcanena's Wastwater Treatment Plant, sludge from different treatment stages containing sulphurous bacteria were collected. These bacteria manage to transform H2S into sulphur and water. Finally, in collaboration with CTIC (Technological Center for the Leather Industry), iodometric titrations were carried out, proving the effectiveness of the produced filter.
Cost effectiveness of intraoperative laparoscopic ultrasound for suspected choledocholithiasis; outcomes from a specialist benign upper gastrointestinal unit
Authors: Donoghue S , Jones RM , Bush A , Srinivas G , Bowling K , Andrews S 
Published: June 2020

Introduction Common bile duct stones are present in 10% of patients with symptomatic gallstones. One-third of UK patients undergoing cholecystectomy will have preoperative ductal imaging, commonly with magnetic resonance cholangiopancreatography. Intraoperative laparoscopic ultrasound is a valid alternative but is not widely used. The primary aim of this study was to assess cost effectiveness of laparoscopic ultrasound compared with magnetic resonance cholangiopancreatography. Materials and methods A prospective database of all patients undergoing laparoscopic cholecystectomy between 2015 and 2018 at a district general hospital was assessed. Inclusion criteria were all patients, emergency and elective, with symptomatic gallstones and suspicion of common bile duct stones (derangement of liver function tests with or without dilated common bile duct on preoperative ultrasound, or history of pancreatitis). Patients with known common bile duct stones (magnetic resonance cholangiopancreatography or failed endoscopic retrograde cholangiogram) were excluded. Ninety-day morbidity data were also collected. Results A total of 420 (334 elective and 86 emergency) patients were suspected to have common bile duct stones and were included in the study. The cost of a laparoscopic ultrasound was £183 per use. The cost of using the magnetic resonance cholangiopancreatography unit was £365 per use. Ten postoperative magnetic resonance cholangiopancreatographies were performed for inconclusive intraoperative imaging. The estimated cost saving was £74,650. Some 128 patients had common bile duct stones detected intraoperatively and treated. There was a false positive rate of 4.7%, and the false negative rate at 90 days was 0.7%. laparoscopic ultrasound use saved 129 bed days for emergency patients and 240 magnetic resonance cholangiopancreatography hours of magnetic resonance imaging. Conclusion The use of laparoscopic ultrasound during laparoscopic cholecystectomy for the detection of common bile duct stone is safe, accurate and cost effective. Equipment and maintenance costs are quickly offset and hospital bed days can be saved with its use.
Endoscopic Botulinum toxin as a treatment for delayed gastric emptying following oesophagogastrectomy
Authors: Nevins EJ , Rao R , Nicholson J , Murphy KD , Moore A , Smart HL , Stephens N , Grocock C , Kaul A , Gunasekera RT , Hartley MN , Howes NR 
Published: June 2020

Introduction The incidence of delayed gastric emptying (DGE) following oesophagogastrectomy with gastric conduit reconstruction is reported to be between 1.7% and 50%. This variation is due to differing practices of intraoperative pylorus drainage procedures, which increase the risk of postoperative biliary reflux and dumping syndrome, resulting in significant morbidity. The aim of our study was to establish rates of DGE in people undergoing oesophagogastrectomy without routine intraoperative drainage procedures, and to evaluate outcomes of postoperative endoscopically administered Botulinum toxin into the pylorus (EBP) for people with DGE resistant to systemic pharmacological treatment. Methods All patients undergoing oesophagogastrectomy between 1 January 2016 and 31 March 2018 at our unit were included. No intraoperative pyloric drainage procedures were performed, and DGE resistant to systemic pharmacotherapy was managed with EBP. Results Ninety-seven patients were included. Postoperatively, 29 patients (30%) were diagnosed with DGE resistant to pharmacotherapy. Of these, 16 (16.5%) were diagnosed within 30 days of surgery. The median pre-procedure nasogastric tube aspirate was 780ml; following EBP, this fell to 125ml (p<0.001). Median delay from surgery to EBP in this cohort was 13 days (IQR 7–16 days). Six patients required a second course of EBP, with 100% successful resolution of DGE before discharge. There were no procedural complications. Conclusions This is the largest series of patients without routine intraoperative drainage procedures. Only 30% of patients developed DGE resistant to pharmacotherapy, which was managed safely with EBP in the postoperative period, thus minimising the risk of biliary reflux in people who would otherwise be at risk following prophylactic pylorus drainage procedures.
Integrated compensation-based laser sensor system for in-plane and out-of-plane target tracking
Authors: Csencsics Ernst 
Published: June 2020

This paper presents the development of a compensation-based laser sensor system, capable of sensing in-plane as well as out-of-plane displacements of a target. The sensor design integrates principles of laser triangulation and objective laser speckle measurement into a single device and provides an in-plane and out-of-plane resolution of 3 µm and 1 µm, respectively. The compensation-based operation keeps the variation of distance and lateral position relative to the target close to zero by actively following the target motion using feedback control. This enables a large operation range of the resulting sensing and tracking system, limited only by the range of the actuation system. Accurate tracking of target motions is demonstrated in an area of

1

×

1

m

m
2

with a small remaining spatial rms tracking error between 8.75 µm and 13.25 µm.
Thin-film InAs/GaAs quantum dot solar cell with planar and pyramidal back reflectors
Authors: Aho Timo , Elsehrawy Farid , Tukiainen Antti , Ranta Sanna , Raappana Marianna , Isoaho Riku , Aho Arto , Hietalahti Arttu , Cappelluti Federica , Guina Mircea 
Published: June 2020

Quantum dot solar cells are promising for next-generation photovoltaics owing to their potential for improved device efficiency related to bandgap tailoring and quantum confinement of charge carriers. Yet implementing effective photon management to increase the absorptivity of the quantum dots is instrumental. To this end, the performance of thin-film InAs/GaAs quantum dot solar cells with planar and structured back reflectors is reported. The experimental thin-film solar cells with planar reflectors exhibited a bandgap-voltage offset of 0.3 V with an open circuit voltage of 0.884 V, which is one of the highest values reported for quantum dot solar cells grown by molecular beam epitaxy to our knowledge. Using measured external quantum efficiency and current-voltage characteristics, we parametrize a simulation model that was used to design an advanced reflector with diffractive pyramidal gratings revealing a 12-fold increase of the photocurrent generation in the quantum dot layers.
Atendimento remoto na APS no contexto da COVID-19: a experiência do Ambulatório da Comunidade da Escola Bahiana de Medicina e Saúde Pública em Salvador, Bahia
Authors: Santos Andreia Beatriz Silva dos , França Marcus Viniicius Sacramento , Santos Juliane Lopes Ferreira dos 
Published: June 2020

A COVID-19 é uma doença causada pelo SARS CoV-2, de variado espectro clínico, com alta transmissibilidade por via respiratória. No momento, a prevenção mostra-se essencial para enfrentamento dessa pandemia, assim como são necessários o distanciamento e regras de higiene. O novo coronavírus imprimiu uma realidade que demandou rápida adaptação do processo de trabalho dos profissionais nas unidades de saúde no que diz respeito aos cuidados primários em saúde. A telemedicina e suas modalidades vêm se destacando como meio de garantia da continuidade da assistência à saúde da comunidade, bem como para orientação e monitoramento de sintomáticos respiratórios, ratificando o papel da Atenção Primária e seus principais atributos, com destaque para o primeiro contato, a longitudinalidade e a integralidade. Este relato apresenta uma forma de organização da unidade docente-assistencial da Escola Bahiana de Medicina e Saúde Pública, em Salvador, Bahia, tendo o atendimento remoto como um dos instrumentos utilizados, revelando um novo caminho para a continuidade do cuidado da população, bem como um momento de aprendizado para os residentes do Programa de Residência em Medicina de Família e Comunidade, para a preceptoria e usuários do serviço durante a pandemia e que poderá ser incorporada no pós-pandemia por COVID - 19.
Factors affecting the intake of fermented milk products among university students: a cross-sectional study from Poland and Turkey
Authors: Skowrońska Magdalena , Kaner Gulsah , Całyniuk Beata , Kardas Marek , Skrzypek Michał , Grochowska-Niedworok Elżbieta 
Published: June 2020

Introduction: The aim of the study is to present fermented milk products intake and related factors by Turkish and Polish students of dietetics.Material and methods: Dietetics students of both Medical University of Silesia in Katowice (SUM), Poland and Izmir Katip Celebi University in Izmir (IKCU), Turkey were kindly requested to fill up an on-line questionnaire. The questionnaire consisted of 23 questions about personal data, consumer preferences, substantive knowledge and assessment of factors conditioning the purchase of fermented milk products. Statistical significance between the groups were checked with the Mann-Whitney U test, t test and Chi squared χ2 test. A statistically significant difference met the p<0.05 condition.Results: There were 162 Polish and 181 Turkish respondents taking part in the research. The most common fermented milk product among both the SUM and IKCU students was plain yoghurt. Its intake was declared by over 95% of the respondents in both groups. In the group of the Polish students, fermented milk products are consumed mainly for breakfast (61.11%) and as a snack between meals (58.02%). Turkish students significantly more frequently prefer to eat them for dinner (50.28%) and lunch (48%). Only 21.06% of the Polish students and 29.3% of the Turkish students consume fermented milk products every day. Products with no colour additives and preservatives are selected by 67.9% of the SUM students, while IKCU students more often choose products with probiotics and prebiotics (43.10%) as well as products with reduced fat content (40.3%). Quality, composition of products, manufacturer, packaging, advertisement were determined the significant factors that preconditioning the selection of fermented milk products.Conclusions: Cultural differences concerning fermented milk products are reflected in eating habits and consumer preferences. Plain yoghurt is a frequently chosen product by both the SUM and IKCU students. There were differences between the respondents in terms of times of the day, amount and types of consumed fermented milk products. Moreover, factors preconditioning their selection vary between the two groups.
Prevalencia del consumo de bebidas energéticas, motivación y factores asociados en alumnos de medicina: estudio transversal
Authors: Pintor Holguín Emilio , Rubio Alonso Margarita , Grille Álvarez Carmen , Álvarez Quesadi Carmen , Herrreros Ruiz-Valdepeñas Benjamín 
Published: June 2020

Introducción: Los objetivos de este estudio son: descubrir el nivel y la intensidad del consumo de bebidas energéticas (BE), conocer la motivación y analizar los factores asociados al consumo en una muestra de estudiantes de Medicina de 1º y 2º curso. Material y métodos: Estudio observacional y transversal. Se incluyeron todos los alumnos de 1º y 2º curso de Medicina en la Universidad Europea de Madrid en los cursos 2017-2018 y 2018-19. Se elaboró una encuesta, no validada, basada en otras tres publicadas (Universidad de West Indies, la de Palermo e Informe EFSA) con 20 ítems: 7 preguntas sobre datos sociodemográficos y de estilo de vida y 13 preguntas sobre conocimiento y hábitos de consumo de BE. Los alumnos rellenaron la encuesta de forma voluntaria, anónima y autoadministrada. Se realizó una estadística descriptica y para la comparación de variables cualitativas en diferentes grupos se utilizó la prueba χ2 o el test exacto de Fisher en caso necesario. Resultados: Respondieron a la encuesta el 80% (353 alumnos de 440) siendo la mayoría mujeres (70%). 115 alumnos (32,6% de la muestra) señalaron que consumían al menos una lata al mes (consumidores). De ellos, el 66% (77 alumnos), ingería menos de una a la semana, el 22,4% (26) entre una y dos por semana. Las mezclaban con bebidas alcohólicas en el 53% de los casos. Las tres justificaciones más importantes para su consumo fueron: estar despierto para estudiar, el sabor y mantenerse despierto para actividades lúdicas. El sexo masculino y ser fumador se asoció con una mayor frecuencia de consumo. Conclusiones: Los alumnos de 1º y 2º de Medicina indicaron consumir bebidas energéticas con frecuencia, en especial los varones. Los motivos más importantes para el consumo fueron aumentar la concentración para estudiar, el sabor y para mantenerse más tiempo despierto de fiesta. El consumo de fin de semana se asoció al consumo de BE mezcladas con alcohol.
Social Norms in Experimental Economics: Towards a Unified Theory of Normative Decision Making
Authors: Vostroknutov Alexander 
Published: June 2020

Abstract
Even though standard economic theory traditionally ignored any motives that may drive incentivized social decision making except for the maximization of personal consumption utility, the idea that ‘preferences for fairness’ (following social norms) might have an economically tangible impact appeared relatively early. I trace the evolution of these ideas from the first experiments on bargaining to the tests of the hypothesis that pro-sociality in general is driven by the desire to adhere to social norms. I show how a recent synthesis of economics approach with psychology, sociology, and evolutionary human biology can give rise to a mathematically rigorous, psychologically plausible, and falsifiable theory of social norms. Such a theory can predictwhich norms should emerge in each specific (social) context and is capable of organizing diverse observations in economics and other disciplines. It provides the first glimpse at how a unified theory of normative decision making might look like.