bluuebunny/crossref_metadata_2025_split huggingface dataset:
Gonadal function in adult male patients with congenital adrenal hyperplasia
Authors: Engels M , Gehrmann K , Falhammar H , Webb E A , Nordenström A , Sweep F C , Span P N , van Herwaarden A E , Rohayem J , Richter-Unruh A , Bouvattier C , Köhler B , Kortmann B B , Arlt W , Roeleveld N , Reisch N , Stikkelbroeck N M M L , Claahsen-van der Grinten H L , _ _ , _ _ , Cohen-Kettenis Peggy , de Vries Annelou , Wiesemann Claudia , Slowikowska-Hilczer Jolanta , Brac de la Perriere Aude , Sultan Charles , Paris Francoise , Thyen Ute , Pienkowski Catherine , Szarras-Czapnik Maria 
Published: January 2018

ContextCurrent knowledge on gonadal function in congenital adrenal hyperplasia (CAH) is mostly limited to single-center/country studies enrolling small patient numbers. Overall data indicate that gonadal function can be compromised in men with CAH.ObjectiveTo determine gonadal function in men with CAH within the European ‘dsd-LIFE’ cohort.DesignCross-sectional clinical outcome study, including retrospective data from medical records.MethodsFourteen academic hospitals included 121 men with CAH aged 16–68 years. Main outcome measures were serum hormone concentrations, semen parameters and imaging data of the testes.ResultsAt the time of assessment, 14/69 patients had a serum testosterone concentration below the reference range; 7 of those were hypogonadotropic, 6 normogonadotropic and 1 hypergonadotropic. In contrast, among the patients with normal serum testosterone (55/69), 4 were hypogonadotropic, 44 normogonadotropic and 7 hypergonadotropic. The association of decreased testosterone with reduced gonadotropin concentrations (odds ratio (OR) = 12.8 (2.9–57.3)) was weaker than the association between serum androstenedione/testosterone ratio ≥1 and reduced gonadotropin concentrations (OR = 39.3 (2.1–732.4)). Evaluation of sperm quality revealed decreased sperm concentrations (15/39), motility (13/37) and abnormal morphology (4/28). Testicular adrenal rest tumor (TART)s were present in 39/80 patients, with a higher prevalence in patients with the most severe genotype (14/18) and in patients with increased current 17-hydroxyprogesterone 20/35) or androstenedione (12/18) serum concentrations. Forty-three children were fathered by 26/113 patients.ConclusionsMen with CAH have a high risk of developing hypothalamic-pituitary-gonadal disturbances and spermatogenic abnormalities. Regular assessment of endocrine gonadal function and imaging for TART development are recommended, in addition to measures for fertility protection.
The Genomes of Four Meyerozyma caribbica Isolates and Novel Insights into the Meyerozyma guilliermondii Species Complex
Authors: De Marco Leone , Epis Sara , Capone Aida , Martin Elena , Bozic Jovana , Crotti Elena , Ricci Irene , Sassera Davide 
Published: January 2018

Abstract
Yeasts of the Meyerozyma guilliermondii species complex are widespread in nature and can be isolated from a variety of sources, from the environment to arthropods to hospital patients. To date, the species complex comprises the thoroughly studied and versatile M. guilliermondii, the hard to distinguish M. caribbica, and Candida carpophila. Here we report the whole genome sequencing and de novo assembly of four M. caribbica isolates, identified with the most recent molecular techniques, derived from four Diptera species. The four novel assemblies present reduced fragmentation and comparable metrics (genome size, gene content) to the available genomes belonging to the species complex. We performed a phylogenomic analysis comprising all known members of the species complex, to investigate evolutionary relationships within this clade. Our results show a compact phylogenetic structure for the complex and indicate the presence of a sizable core set of genes. Furthermore, M. caribbica, despite a broad literature on the difficulties of discerning it from M. guilliermondii, seems to be more closely related to C. carpophila. Finally, we believe that there is evidence for considering these four genomes to be the first published for the species M. caribbica. Raw reads and assembled contigs have been made public to further the study of these organisms.
A Population Phylogenetic View of Mitochondrial Heteroplasmy
Authors: Wilton Peter R , Zaidi Arslan , Makova Kateryna , Nielsen Rasmus 
Published: January 2018

AbstractThe mitochondria contained within the human body are genetically diverse. This type of variation, called heteroplasmy, is emerging as an important factor...The mitochondrion has recently emerged as an active player in myriad cellular processes. Additionally, it was recently shown that &gt;200 diseases are known to be linked to variants in mitochondrial DNA or in nuclear genes interacting with mitochondria. This has reinvigorated interest in its biology and population genetics. Mitochondrial heteroplasmy, or genotypic variation of mitochondria within an individual, is now understood to be common in humans and important in human health. However, it is still not possible to make quantitative predictions about the inheritance of heteroplasmy and its proliferation within the body, partly due to the lack of an appropriate model. Here, we present a population-genetic framework for modeling mitochondrial heteroplasmy as a process that occurs on an ontogenetic phylogeny, with genetic drift and mutation changing heteroplasmy frequencies during the various developmental processes represented in the phylogeny. Using this framework, we develop a Bayesian inference method for inferring rates of mitochondrial genetic drift and mutation at different stages of human life. Applying the method to previously published heteroplasmy frequency data, we demonstrate a severe effective germline bottleneck comprised of the cumulative genetic drift occurring between the divergence of germline and somatic cells in the mother, and the separation of germ layers in the offspring. Additionally, we find that the two somatic tissues we analyze here undergo tissue-specific bottlenecks during embryogenesis, less severe than the effective germline bottleneck, and that these somatic tissues experience little additional genetic drift during adulthood. We conclude with a discussion of possible extensions of the ontogenetic phylogeny framework and its possible applications to other ontogenetic processes in addition to mitochondrial heteroplasmy.
Estimación de la carga global de enfermedad en Colombia 2012: nuevos aspectos metodológicos
Authors: Rodríguez-García Jesús , Peñaloza-Quintero Rolando E. , Amaya-Lara Jeannette L. 
Published: January 2018

La nueva metodología de carga global de enfermedad (GBD, 2010) resulta difícil de reproducir completamente en Colombia. En este trabajo se presentan los resultados de utilización parcial de esta metodología para estimar los años perdidos por muerte prematura (APMP) y los vividos con discapacidad (AVD). La redistribución de códigos inútiles produce incrementos importantes en las causas de muerte, que es preferible a un análisis de causas de muerte con un 15,6 % de códigos inútiles que aportarían poca o ninguna información estadística. La cardiopatía isquémica, eventos cerebrovasculares y la cardiopatía hipertensiva causan el mayor riesgo de mortalidad (164,2 muertes por 100 000). Las agresiones por arma de fuego y objeto cortante, las lesiones auto-infligidasy las provocadas por vehículos de tres y cuatro ruedas, causan el mayor riesgo de APMP (34,3 APMP por 1000). Enfermedades de piel como la dermatitis, eritemas, la pediculosis y la pitiriasis, causan el mayor riesgo de AVD (51,3 AVD por 1000). Este grupo de enfermedades de la piel también resultan la principal causa de AVISAs Totales (51,4 AVISAs Totales por 1000). Los departamentos con las tasas más elevadas de mortalidad y APMP para las causas del grupo I (enfermedades transmisibles) son Guainía, Amazonas, Vaupés, Cauca, Vichada, Putumayo, Nariño, Chocó, Córdoba, La Guajira, Guaviare y Caquetá, que están entre los de más baja cobertura de la mortalidad.
Experiencias departamentales en la construcción, divulgación y uso del análisis de situación de salud, Colombia 2016
Authors: Escobar Diaz Fabio Alberto , Castillo Santana Paula Tatiana , Rodriguez Salazar Nohora Mercedes , Quintero Cabezas Cindy Johana , Castañeda Orjuela Carlos Andres 
Published: January 2018

Objetivo El Análisis de Situación de Salud (ASIS) es una metodología que se encuentra en implementación recientemente en Colombia. Este estudio buscó comprender la experiencia de construcción, divulgación y uso del ASIS para la toma de decisiones en algunas entidades territoriales (ET).Métodos Entrevistas semiestructuradas a funcionarios de las entidades departamentales de salud; la información fue analizada de acuerdo a un conjunto de categorías establecidas previamente.Resultados Las ET implementan el ASIS incorporando el enfoque de los Determinantes Sociales de la Salud; sin embargo, las capacidades técnicas, económicas y humanas son desiguales para la elaboración de este tipo de análisis; la participación intersectorial y social aún es débil y los resultados generados todavía no orientan latoma de decisiones a nivel territorial.Conclusiones La metodología ASIS aspira a posicionarse como uno de los mecanismos oficiales para generar evidencia que oriente las políticas y la toma de decisiones en salud a nivel nacional, regional y local; existen desafíos a nivel económico, institucional y político para su consolidación como estrategia de útil en la planificación en salud. El ASIS es una metodología de gran relevancia para las ET y debe seguir fortaleciéndose su implementación.
Learning from History: union tactics that contributed to the labor counter-reform / Aprendendo com a História: táticas sindicais que contribuíram para a contrarreforma trabalhista
Authors: Hillesheim Jaime 
Published: January 2018

This article analyzes the tactics adopted by the Brazilian trade union movement in recent times, particularly between 2003 and 2015/2016, during the PT (Worker's Party) governments, in order to deal with conflicts arising from the relationship between capital and labor. Based on the research, it is possible to affirm that the prospects for negotiation and conciliation of the interests of classes assimilated by workers' representative organizations in the face of capital, created the necessary conditions to carry out the recently approved labor counter-reforms, whose content materializes the agenda of the national bourgeoisie to face the fall of the rates of profit in the context of the structural crisis of capitalism. The reconstruction of the social processes which culminated in this counter- reform is essential for workers to be able to assess the negative impact of those tactics on the collection of historically conquered rights, and elaborate answers that effectively contribute toward social emancipation.
Arquitectura y “Cognoscimiento” Los Fenómenos Interpretativos involucrados en el Aprendizaje de los Procesos Proyectuales
Authors: Masis Morales Adriana 
Published: January 2018

En el campo de la Arquitectura, es común que las temáticas giren en torno a un proyecto (obra edificada o edificable), una intervención u otros objetos físicos y sus respectivos diseños, pues en la academia se tiende a inculcar que la labor del arquitecto está en dar soluciones a las necesidades de la sociedad a través de obras edilicias. Esto nos ha conducido a sobrevalorar lo tangible y los resultados, por encima de lo metafísico y los procesos, de manera que en ocasiones los estudiantes visualizan su quehacer arquitectónico como un acto mecánico, meramente práctico y enfocado en la obtención de un producto, más que en el aprovechamiento del proyecto de diseño, como herramienta de aprendizaje. A raíz de esta inquietud, surge la idea de reivindicar la importancia de lo cognitivo, representado en este ensayo a través de los conceptos de: el asombro, la experimentación y el compartir descubrimientos, como un medio para dar valor a las inquietudes intelectuales de los futuros arquitectos y de esta manera estimular el emprendedurismo y el auto-cuestionamiento; generándose un cambio en el paradigma de ‘enseñar a través del método’, a ‘aprender a través de la experiencia’. Esto último quiere decir: dejar de visualizar el aprendizaje como una sucesión de lineamientos a satisfacer, para comenzar a fomentar el uso de valores cognitivos y vivenciales, ya que al concientizarse sobre ellos se da un acercamiento más integral a las variables implícitas en el diseño y se aviva el rol de los estudiantes, los docentes y el sistema educativo como constructores de nuevos conocimientos.
The effectiveness of a parental guide for prevention of problematic video gaming in children: A public health randomized controlled intervention study
Authors: Krossbakken Elfrid , Torsheim Torbjørn , Mentzoni Rune Aune , King Daniel Luke , Bjorvatn Bjørn , Lorvik Ingjerd Meen , Pallesen Ståle 
Published: January 2018

Background and aims
Excessive use of video games among children and adolescents is a growing concern. The aim of this study was to investigate the effectiveness of a brief parental guide with advices and strategies for regulating video gaming in children.

Methods
A random sample of guardians of children between the age of 8–12 years old (N = 5,864) was drawn from the Norwegian Population Registry and equally randomized into an intervention and a control condition. A parental guide based on clinical and research literature was distributed by postal mail to those in the intervention condition. A 4-month follow-up survey comprising questions about problematic video gaming, gaming behavior, sleep activity, and parental video game regulation behavior was administered.

Results
Independent t-tests revealed no significant differences between the two conditions (N = 1,657, response rate 30.1%) on any outcome measure. An ANOVA with planned comparisons showed that respondents who reported that they had read and followed the parental guide reported more video game problems and used more parental mediation strategies than those who did not read and follow the guide.

Conclusions
We found no evidence for the effectiveness of the psychoeducational parental guide on preventing problematic video gaming in children. However, the guide was read and positively assessed by a significant proportion of guardians. Differences between those who studied the guide and those who did not may indicate that parental guides are better aimed at providing important information to those who already have problems rather than as a mean of primary prevention.
Five-year overall survival of metastatic renal cell carcinoma patients treated with everolimus after progression on bevacizumab: a prospective multicenter study CRAD001LRU02T
Authors: Safina S. Z. , Varlamov S. A. , Snegovoy A. V. , Varlamov I. S. , Gurina L. I. , Manzuk L. V. , Tsimafeyeu I. V. 
Published: January 2018

Background. In a CRAD001LRU02T study of everolimus for metastatic renal cell carcinoma patients previously treated with bevacizumab ± interferon, median overall survival (OS) was 17.4 months (95 % confidence interval 13.5–21.3 month).Objective of final analysis was to evaluate 5-year OS and long-term toxicity in this study.Materials and methods. Survival data were collected from 37 patients with bevacizumab-refractory metastatic renal cell carcinoma who received everolimus in a completed prospective multicenter study. Patients were predominantly male, 89 % had ECOG performance status of 0/1, 51 % received previous bevacizumab in combination with interferon, and 38/62% had MSKCC favorable/intermediate risk disease.Results. The 5-year survival rate was 16.2% (95 % confidence interval 14.1–18.3 %), with a median follow-up of 5 years. The 1-, and 3-year OS rates were 81.0 and 43.0 %, respectively. The median duration of second-line of everolimus was 315 (range 61–569) days. 11 (29.7 %) patients received third-line therapy with a median duration of 3.6 months. Confirmed objective tumor responses were seen in 5 (14.0 %) patients. 70.0 % (n = 26) patients had a stable disease. 1 (2.7 %) patient achieved complete response after 4 years of therapy. One (2.7 %) patient discontinued everolimus therapy on their own accord due to relapse of systemic lupus erythematosus and one (2.7 %) patient had 14-days interruption of an everolimus therapy due to grade 3 hyperglycemia. No grade 4 treatment-related toxicity was found.Conclusions. Everolimus provided an estimated 5-year survival rate of 16.2 % for bevacizumab-resistant metastatic renal cell carcinoma. Prolonged everolimus was not associated with new types or increased severity of adverse events.
The Relationship between the Level of Glycosylated hemoglobin (HbA1c) with The Incidence Rate of Diabetic Foot in H. Adam Malik General Hospital
Authors: Marshal, Fernando Silalahi , Pohan Doddy Prabisma , Lelo Aznan 
Published: January 2018

Background : Diabetes Mellitus (DM) is a group of metabolic diseases characterized by hyperglycemia that occurs due to insulin secretion abnormalities, insulin work or both. Most Diabetes Melitus treatments are always associated with diabetic ulcers. Death rates and amputation rates are still high, respectively at 32.5% and 23.5%. The fate of patients with post-amputation Diabetes Melitus is still very bad, as many as 14.3% will die within a year after amputation and 37% will die 3 years after amputation. It has been mentioned in previous clinical studies that uncontrolled diabetes mellitus was associated with elevated HbA1c levels associated with the development of retinopathy as well as other complications, with a research reference value r = 0.079.
Methods : The study involved Diabetes Melitus patients with diabetic foot diagnosis in Thoracic, Cardiac, and Vascular Surgery Polyclinic Department of Surgical and Inpatient Surgery RSUP H. Adam Malik Medan period January 2014- December 2016 with a total sample of 70 people.
Result : The mean age of study subjects was 55.65 + 12.25. In the table shows that the study subjects based on the most gender were men with 47 subjects (67%). The mean of Glycosilated hemoglobin (HbA1c) was 6.4 + 2.44 mg / dL with the most patients found at HbA1c <7 mg / dL level of 49 patients (70%). The result of the analysis is p = 0.0001 (p <0,05) this means there is significant relation between Glycosilated hemoglobin (HbA1c) and diabetic foot. Also obtained OR = 3.1 (CI = 95%, p <0.05).
Conclusion: Bivariatically there was a significant correlation between Glycosilated hemoglobin (HbA1c) and diabetic foot with p = 0.0001 and Odd Ratio of OR = 3,1 (CI = 95%, p <0,05). For the mean result of Glycosilated hemoglobin (HbA1c) was 6.4 + 2.44 mg / dL with the highest HbA1c <7 mg / dL of 49 patients (70%).
Prostate Specific Antigen Values of Geriatric Individuals Visiting a Tertiary Care Hospital in Southern India for Comprehensive Check Up
Authors: Unnikrishnan Rahul , Paul George , Senan Sunil K , Vijayakumar Priya 
Published: January 2018

Prostate Specific Antigen (PSA) has become the most commonly used tumour marker for prostate cancer. Studies have suggested that age specific cutoff values for PSA screening are better than the currently used standard cutoff of 4.0ng/ml and different races have their own reference ranges. The objective of this study was to measure the PSA values of elderly individuals attending a tertiary care centre in southern India and postulate the possible normal values of PSA in different age groups of elderly. A total of 1038 males over the age of 60 years presenting to the Elderly Comprehensive Health clinic at the Department of Geriatrics of a tertiary hospital in Southern India between March 2009 and February 2011were studied. 4ml blood was collected and PSA was estimated by Chemiluminiscent Micro-particle Immunoassay. PSA values were analyzed in terms of mean, standard deviation and 5th and 95th percentiles. Results showed that 5th and 95th percentile values were 0.27 and 3.82 among those who were 60-69 years, 0.28 and 3.43 among those who were 70-79 years and 0.26 and 3.95 among those who were more than 80 years. 10 % of the elderly population in all age subsets had PSA values over the normal. This study showed that the PSA values from South India are similar to the expected. The age specific Indians being ethnically distinct, need to have separate PSA reference ranges which need to be established with large community-based multicentre Indian studies.
Crianças, dispositivos móveis e aprendizagens formais e informais
Authors: Fantin Mônica 
Published: January 2018

As mudanças nos lugares que as crianças ocupam na sociedade, suas formas de socialização e suas práticas lúdicas e culturais contribuem para a construção de novos modos de aprendizagem, cada vez mais mediados pelo uso de dispositivos móveis que desencadeiam a emergência de novas metodologias e espaços de formação. Nesse sentido, desenvolvemos uma pesquisa qualitativa com crianças sobre as práticas de multiletramentos e aprendizagens formais e informais na cultura digital, a fim de identificar e fortalecer os diálogos entre os contextos escolares e culturais com a aplicação da metodologia dos Episódios de Aprendizagem Situados, EAS. A investigação envolveu observações, intervenções didáticas, entrevistas e grupos focais com crianças de diferentes faixas etárias em duas escolas públicas de Florianópolis, SC/Brasil, entre 2014/2015. Análises parciais revelam que as práticas midiáticas das crianças com dispositivos móveis fora da escola, quando articuladas às propostas mídia-educativas, podem desencadear aprendizagens significativas e deslocar os protagonismos dos dispositivos em busca de novas possibilidades de autoria infantil. Práticas que interpelam os que atuam com educação e desafiam a pensar em novas formas de mediação diante dos contornos dessa nova paisagem cultural. Neste texto discutimos os fundamentos teóricos da relação crianças, dispositivos móveis e aprendizagens, a metodologia da pesquisa com o foco na estratégia de aprendizagem learning by doing, algumas narrativas dos episódios e as considerações sobre as práticas dos estudantes com os dispositivos móveis.
Knowledge Management in Digital Library and Institutional Repository for Supporting Information Literacy
Authors: Munawaroh Munawaroh 
Published: January 2018

The Information has not become knowledge until it has a value for the users, that is the reason we need knowledge management (KM) as the contents in digital library and institutional repository. Knowledge management (KM) refers to the tools, technologies, practices and cognitive. Knowledge management (KM) is a capability that manages an organization’s knowledge, systematic processes for acquiring, organizing, sustaining, applying, sharing and renewing both tacit and explicit knowledge to enhance organizational performance and create a value. Digital library and institutional repository is a managed knowledge as a collection in digital format for knowledge information sharing. The objective of this paper is to explain web-based digital library and web-based institutional repository as a knowledge management to assist sharing knowledge information for supporting information literacy. The web-based consists of contents full text information, user friendly searching, and services. This study used web-based of digital library and institutional repository data by searching on internet and it is qualitative descriptive. The judgment is based on whether the contents are fully texted or not fully texted. The fully texted indicates that the contents can support sharing knowledge or the other way around. It shows that the content of digital library and institutional repository for encouraging is to develop information literacy skill. It can be viewed from digital library and institutional repository as an alternative study e-learning that collaborates between teachers, librarians, and people who are capable in knowledge management for supporting information literacy. It can be concluded that digital library and institutional repository must have information literacy