bluuebunny/crossref_metadata_2025_split huggingface dataset:
Application of bioethical principles in nursing students
Authors: Zamora Ruiz Kimberly Sabrina , Chileno Camacho Luis Felipe 
Published: May 2024

Introduction: there are very few studies related to bioethical principles, despite the fact that these are fundamental in the execution of clinical practice. Methodology: applied research of quantitative type, with a non-experimental, cross-sectional design and descriptive approach, the sample size is 80 people determined by a simple random sampling, among seventh semester students at the Technical University of Ambato. Results: the results were that 80 % of students performed the activities corresponding to the principle of autonomy, 80 % of participants applied the principle of non-maleficence, 85,4 % of people developed the activities for the principle of justice, and 83 % of participants applied the necessary activities on the principle of beneficence. Discussion: bioethics is known to have 4 principles that have an important role in nursing practice, these are non-maleficence, beneficence, autonomy, justice the principles should be used not only by nurses if not by all health personnel, to provide adequate care. Conclusions: Within this study it was determined that students apply bioethical principles in their externship practices through the activities determined by the questionnaire
Accidentes de tránsito, un problema de salud púbica: revisión sistemática
Authors: Alvia Párraga Adriana Elizabeth , Linares Giler Sandra 
Published: May 2024

Los accidentes de tránsito representan un desafío significativo para la salud pública en todo el mundo. Cada año, millones de personas resultan heridas o fallecen debido a colisiones de vehículos en las carreteras, lo que provoca una carga considerable en los sistemas de atención médica y una pérdida irreparable de vidas humanas. El objetivo de este trabajo fue analizar los resultados sobre accidentes de tránsito y la afectación en la salud pública, mediante una revisión de la evidencia disponible. El diseño del estudio fue de tipo exploratorio, documental, de carácter descriptivo mediante una búsqueda bibliográfica sistemática de artículos a texto completo, publicados en los últimos 5 años, en revistas indexadas en las bases de datos científicas y buscadores PubMed, MEDLINE, Cochrane, Google Scholar, Scielo, Scopus, Redalyc, Elsevier y WOS, así como páginas web oficiales de salud, bajo criterios de inclusión y exclusión, utilizando palabras clave: “traffic accident”, “costs”, “public health”, “rehabilitation”, unidos por el conector AND y OR con los términos "traffic accident" relation "costs", "public health", public health traffic accidents, rehabilitation costs to public health traffic accidents, finalmente se seleccionaron 21 artículos. Los accidentes de tráfico representan un desafío global con variaciones geográficas significativas. Aunque los hombres suelen ser más afectados, en Zambia las mujeres tienen un mayor riesgo. La prevención dirigida a grupos demográficos específicos y la consideración de factores como el estado del vehículo y el comportamiento del conductor son cruciales para mejorar la seguridad vial.
Alternative Solutions to Increase Pension Security Participation in Indonesia
Authors: Meutia Astrid , Hamzah Muhammad Zilal , Rumondang Haiyani 
Published: May 2024

This study aims to analyze alternative solutions to increase the number of pension security participation in Indonesia. The analysis method used in this study is Panel Data Regression. The data used in the panel data analysis are Number of Pension Security Participants, Human Development Index (HDI), Gross Regional Domestic Product (GRDP), Open Unemployment Rate (TPT), Information and Communication Technology Development Index (IPTIK), Young age (15-24) who are not in school, working or training (NEET), Proportion of Average Hourly Wages to Provincial Minimum Wage (Wages), Gini Ratio, Labor Force Participation Rate (TPAK) from 2017-2022 in 33 Provinces in Indonesia. The results of panel data processing, the best model is the Fixed Effect Model with regression results showing that only GRDP variables have a significant positive influence. While the Wage variable has a significant negative effect and the IPM, TPT, IPTIK, NEET, Gini Ratio, TPAK variables have no influence on the Number of Pension Security Participants.
Measuring the Effectiveness of Learning Based on Supporting Facilities and Teacher Motivation
Authors: . Nataliningsih , Suseno Gijanto Purbo , . Wahyudin , Efendi Deny 
Published: May 2024

The Minimum Completion Criteria (KKM) is a reflection of success in learning. A student who scores below KKM is said to have not been completed which must be improved in order to achieve minimal completion. The research method used is the census method with a quantitative descriptive approach. The research is carried out in XYZ Junior High Schools in West Java. As the object of research is all teaching teachers. The purpose of the study is to measure the effectiveness of learning based on school facilities and teacher motivation in work. The results showed that simultaneously learning facilities together with teacher motivation had a direct positive effect on learning effectiveness with the equation Y = 0.199 X1 + 0.628 X2 + 0.255. Partially school facilities had a direct effect on the effectiveness of learning and teacher motivation had a direct effect on the effectiveness of learning, because to meet KKM it was necessary to support facilities and teacher motivation. Suggestions need to improve the school atmosphere, a sense of loyalty to peers and the continuous development of teacher competencies.
Modelo para estimar o risco de ruptura pela falta de abastecimento de insumos, com base em simulação digital: caso de uma indústria de eletroeletrônicos
Authors: Brandão Edio Paulo Segnini , Rodriguez Carlos Manuel Taboada 
Published: May 2024

O fluxo de suprimento de componentes para a fabricação de produtos de tecnologia vem sofrendo restrições em sua dinâmica de abastecimento, por fatores complexos que envolvem as incertezas no fornecimento dos insumos. Este contexto agravou-se com a crise de fornecimento global para a indústria de bens eletroeletrônicos, em especial para as indústrias do setor automotivo, a partir de 2020. Diante desse cenário de incertezas, a pesquisa apoia-se no estudo de caso para criar um modelo, com base em simulação digital, que estima o risco de ruptura do processo produtivo de uma indústria de eletroeletrônicos, por falta de abastecimento de componentes. O desenvolvimento do trabalho verificou como os sistemas tradicionais de planejamento e controle de produção estão sendo integrados às novas tecnologias da informação e como esse fato possibilita obter dados assertivos para prever riscos de ruptura. O modelo baseia-se em dados reais das necessidades geradas pelo PCP (Planejamento e Controle da Produção) e pelo cálculo do MRP (Manufacturing Resource Planning) para determinar o ponto de ruptura, combinados em uma plataforma digital LCDP (Low Code Development Plataform). Os resultados alcançados no estudo de caso evidenciaram a capacidade da proposta, tais como o cálculo das datas da ruptura e o volume de produção afetado pela ruptura.
Cramming Analysis Based on Time to Start Studying and Time the Exam being Held
Authors: Daroedono Ekarini , Fachly Alifa Hasna Ramadhani , Salshabila Ayu Aulia , Pasoro Debora Iriani Sanda , Kambu Gabriella Hillary , Destrian Fachrul , Fatimatuzzahra Restu , Siagian Forman Erwin 
Published: May 2024

Aims: to explore the time that crammer start to study and the time of exam being held and relate this two with the result of the remedial exams which conducted electronically (computer based).
Study Design: simple descriptive cross sectional study
Place and Duration of Study: conducted during January to February 2024 in the faculty of Medicine, Universitas Kristen Indonesia, Jakarta-Indonesia. Sample: respondents who join the remedial exam during 2022.
Methodology: electronic questionnaire regarding time to start studying being distributed prior the exam/test. Sufficient explanation regarding the research is given before consent is politely requested to each exam’s participant. Data obtained from questionnaire were combined with demography data (gender, place of residence) and the result of the exam.
Results: Cramming conducted by 69.7% of our respondents, with the involvement of male student is more common compared to female student and regarding their place of residence, more student that live in their own house with their family do the cramming. Most of the perpetrator started studying at 20.00 – 24.00 pm. Students passing rate in this study were low. Female students score better when they did not cram while only male students who conduct cramming and still fail the exam get a slightly higher mean score than male students who fail the exam and did not cram. Female students got a slightly higher mean score than male students.
Conclusion: Cramming is risk taking like gambling behavior. It can give negative impact to the perpetrator’s mental health. The phenomenon of cramming is quite common, especially among male student, but the passing rate was poor. Cramming mostly started late at night. Male students who fail the exam tend to get higher grades if they cramming while on the other hand our female student tend to get higher score in they did not cram.
Paranormal belief and the conjunction fallacy: Controlling for temporal relatedness and potential surprise differentials in component events
Authors: Rogers Paul , Fisk John E. , Wiltshire Dawn 
Published: July 2010

AbstractRecent research suggests paranormal believers are especially prone to the ‘conjunction fallacy’. The current study extends this work by presenting believers and non‐believers with eight paranormal plus eight non‐paranormal scenarios. Participants were given either a paranormal or virtually identical non‐paranormal version of each scenario. Of these, half incorporated component events which were (virtually) co‐occurring with half including components which were temporally disjointed. Analysis of Covariance (ANCOVA; controlling for gender and maths/stats/psychology qualifications) found believers made more conjunction errors than non‐believers. Neither event type (paranormalvs. non‐paranormal) nor components' temporal relationship (co‐occurringvs. disjointed) had a significant effect on conjunction biases. Believers' tendency to produce larger conjunctive estimates was unrelated to group differences in component probability estimates (surprise values) and further, could not be attributed to group differences in the perceived functional relationship between component and conjunctive events. Possible explanations are discussed. Copyright © 2010 John Wiley & Sons, Ltd.
Array‐CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum
Authors: Rooryck Caroline , Souakri Noui , Cailley Dorothée , Bouron Julie , Goizet Cyril , Delrue Marie‐Ange , Marlin Sandrine , Lacombe Feclad Didier , Arveiler Benoît 
Published: July 2010

AbstractOculoauriculovertebral spectrum (OAVS) is a clinically and genetically heterogeneous congenital disorder. We performed high density oligonucleotide array‐CGH on 86 OAVS patients and identified in 11 patients 12 novel genomic rearrangements (4 deletions and 8 duplications) ranging in size from 2.7 kb to 2.3 Mb. We discuss the potential pathogenic role of these chromosomal aberrations, and describe new candidate regions for OAVS. © 2010 Wiley‐Liss, Inc.
Homozygous nonsense mutation in WNT10B and sporadic split‐hand/foot malformation (SHFM) with autosomal recessive inheritance
Authors: Blattner Ariane , Huber Andreas R. , Röthlisberger Benno 
Published: July 2010

AbstractSplit‐hand/foot malformation (SHFM) is a limb malformation affecting the central rays of the hands and/or feet. Isolated SHFM occurs within families but more often sporadically. Since most families with more than one patient show dominant inheritance with reduced penetrance, sporadic SHFM is generally considered to be due to dominantly inherited new mutations. Recently, recessive inheritance of SHFM was proposed in a highly consanguineous family with a homozygous missense mutation in WNT10B. Nevertheless, the assumption of a second locus was necessary to explain the observed phenotypes in this family. To date, no other family and no case of sporadic SHFM with WNT10B mutations are known. By examining WNT10B in a patient with sporadic SHFM, we identified a homozygous 4‐bp duplication resulting in a premature termination codon. Nine heterozygous relatives show no sign of SHFM. These findings have profound implications for genetic counseling. Obviously, sporadic SHFM may show recessive rather than dominant inheritance resulting in a 25% recurrence risk for sibs instead of a very low‐recurrence risk as generally presumed. Likewise, there is a very low‐recurrence risk for offspring of patients (unless there is consanguinity) instead of an estimated risk between 30% and 50%. It can be concluded that sporadic SHFM is not always a dominant trait. To determine the recurrence risk, patients affected with sporadic SHFM should be tested for mutations in WNT10B. © 2010 Wiley‐Liss, Inc.
TBX2 gene duplication associated with complex heart defect and skeletal malformations
Authors: Radio Francesca Clementina , Bernardini Laura , Loddo Sara , Bottillo Irene , Novelli Antonio , Mingarelli Rita , Dallapiccola Bruno 
Published: July 2010

AbstractWe report on a patient with mild mental retardation, prenatal onset growth retardation, cerebellar hypoplasia, and complex heart defect including: interventricular septal defect, patent foramen ovale, aortic coarctation, tricuspid valve insufficiency, mitral valve stenosis, and minor skeletal anomalies with hypo‐aplasia of the distal phalanges. A SNP‐array analysis detected a de novo duplication of 17q23.2, encompassing the TBX2 gene. Animal models argue for a key role of Tbx2 during cardiac and limb development. Accordingly, we hypothesize that the heart malformation and mild digital anomalies found in this patient could be related to TBX2 gene overexpression, suggesting parallel consequences of TBX2 gene dosage imbalances in animals and in humans. © 2010 Wiley‐Liss, Inc.
Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in “paternal age‐effect” syndromes
Authors: Goriely Anne , Lord Helen , Lim Jasmine , Johnson David , Lester Tracy , Firth Helen V. , Wilkie Andrew O.M. 
Published: July 2010

AbstractCrouzon syndrome is a dominantly inherited disorder characterized by craniosynostosis and facial dysostosis, caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene; it belongs to a class of disorders that mostly arise as de novo mutations and exhibit a near‐exclusive paternal origin of mutation and elevated paternal age (“paternal age effect”). However, even if this is the major mode of origin of mutations in paternal age‐effect disorders, germline mosaicism may also occur. Here we describe the first molecularly documented evidence of germline and somatic mosaicism for FGFR2 mutation, identified in the mother of a child with Crouzon syndrome caused by a heterozygous c.1007A>G (p.Asp336Gly) substitution. Levels of maternal somatic mosaicism for this mutation, estimated by pyrosequencing, ranged from 3.3% in hair roots to 14.1% in blood. Our observation underlines the importance of parental molecular testing for accurate genetic counseling of the risk of recurrence for Crouzon, and other paternal age‐effect syndromes. © 2010 Wiley‐Liss, Inc.
Trisomy 16q21 → qter: Seven‐year follow‐up of a girl with unusually long survival
Authors: de Carvalho Acácia Fernandes Lacerda , da Silva Bellucco Fernanda Teixeira , dos Santos Normeide Pedreira , Pellegrino Renata , de Azevedo Moreira Lília Maria , Toralles Maria Betania Pereira , Kulikowski Leslie Domenici , Melaragno Maria Isabel 
Published: July 2010

AbstractThe 16q21 → qter duplication is a chromosomal abnormality rarely found in liveborn infants, with only four published cases. We report here on the 7‐year follow‐up of a female patient with trisomy 16q21 → qter due to a maternal balanced translocation t(4;16)(q35.2;q21). The patient shows severe mental retardation, congenital heart malformations, nephropathy, and other congenital anomalies. The derivative chromosome was characterized by GTG banding, fluorescent in situ hybridization (FISH) with different BAC probes and the array technique, in order to map the breakpoints. The patient has a 16q21 → qter duplication, with a 4q35 → qter monosomy, which we assume does not contribute to the abnormal phenotype. This is the first reported case of postnatal survival to the age of 7 years, an unusually long time in this chromosomal syndrome. © 2010 Wiley‐Liss, Inc.
Pontocerebellar hypoplasia type 6: A British case with PEHO‐like features
Authors: Rankin Julia , Brown Ruth , Dobyns William B. , Harington Judith , Patel Jay , Quinn Michael , Brown Garry 
Published: July 2010

AbstractSix subtypes of autosomal recessive pontocerebellar hypoplasia (PCH) have been identified and the genetic basis of four of these (PCH1, PCH2, PCH4, and PCH6) is known. PCH6 is associated with cerebral atrophy and multiple but variable respiratory chain defects in muscle and has been reported in one consanguineous Sephardic Jewish family. It is caused by mutations in the RARS2 gene which encodes mitochondrial arginine‐transfer RNA synthetase. Here we describe a female patient born to nonconsanguineous British parents. She presented in the neonatal period with increased respiratory rate, poor feeding and transiently elevated blood and CSF lactate levels. She went on to manifest profound developmental delay and severe microcephaly. Edema of the hands, feet, and face were suggestive of a PEHO‐like condition (progressive encephalopathy, edema, hypsarrhythmia and optic atrophy), although optic atrophy and hypsarrhythmia were absent. Cranial MRI at age 14 months showed generalized cerebral atrophy, thinning of the pons and gross atrophy and flattening of the cerebellar hemispheres. Muscle biopsies on two occasions were normal with normal respiratory chain studies. Despite the absence of respiratory chain defects, the phenotype was felt to be consistent with PCH6 and indeed two novel pathogenic RARS2 mutations were identified. Ours is the second report of PCH6 due to RARS2 mutations and demonstrates that respiratory chain abnormalities are not obligatory, whereas some features of PEHO might be present. © 2010 Wiley‐Liss, Inc.
The consequences of consanguinity on the rates of malformations and major medical conditions at birth and in early childhood in inbred populations
Authors: Zlotogora Joël , Shalev Stavit A. 
Published: July 2010

AbstractThe rate of malformations and major medical conditions in early childhood was analyzed in a single village according to the degree of relationship between the parents. In the village, 70–80% of the marriages are between descendants of the founders and therefore consanguineous. In the period 1992–2003, in 99 of 2,610 children, a major malformation was diagnosed at birth and seven additional fetuses were aborted because of a severe malformation. A significant medical condition was diagnosed in 38 additional children in early childhood. The total of 144 cases with malformations or a major medical condition represented 5.52% (95% CI: 4.64–6.4) of the live births. Three malformations/disorders were relatively frequent: Down syndrome, esophageal atresia, and profound deafness. The rate of malformations and significant medical conditions was 7.77% (95 CI: 5.68–9.86) when the parents were first cousins and 3.63% (95% CI: 2.11–5.15) when they were not related (P = 0.002, Fisher's exact test). Offspring of parents that were second cousins or closer but less than first cousin had a risk that was similar to the one of offspring of couples that were more distantly related. We propose therefore, that in inbred populations, all the couples that are not related as first cousins but in which the spouses are both descendants of the founders should be considered as related. The high prevalence of profound deafness in the village is due to mutations in the Connexin 26 gene, while the relatively high frequency of Down syndrome is not explained by maternal age only. © 2010 Wiley‐Liss, Inc.
X chromosome monosomy restricted to the left ventricle is not a major cause of isolated hypoplastic left heart
Authors: Bernardini Laura , Giuffrida Maria Grazia , Francalanci Paola , Capalbo Anna , Novelli Antonio , Callea Francesco , Dallapiccola Bruno 
Published: July 2010

AbstractHypoplastic left heart sequence (HLHS) encompasses obstructive lesions of the left side of the heart accompanied by varying degrees of underdevelopment of the mitral valve, either atresia or stenosis, left ventricle, aortic valve, and ascending aorta. HLHS has an incidence of 0.016–0.036% live births and can occur as an isolated defect or several different chromosome abnormalities. In particular, about 20% of patients with monosomy X, have HLHS, suggesting a relationship between this form of aneuploidy and this congenital heart defect (CHD). Somatic mutations restricted to the cardiac affected structure have been considered a mechanism of CHD. The aim of this study was to evaluate if monosomy X restricted to the left ventricle causes isolated HLHS. Formalin‐fixed, paraffin‐embedded cardiac tissue obtained from 19 patients with HLHS (10 males and 9 females) without extra cardiac anomalies and with a normal constitutional karyotype, were investigated by FISH analysis, using X/Y/18 centromeric probes. The results of this analysis were compared with those obtained by examining the heart specimens of 15 chromosomally normal pediatric patients affected by either restrictive or dilated cardiomyopathy, which were used as negative controls. Mosaic monosomy X was detected in the cardiac tissue nuclei of both groups, with similar frequencies (6–16% and 12–16%, respectively), suggesting that chromosome X monosomy is not rare in this tissue, but is not a major cause of isolated HLHS. © 2010 Wiley‐Liss, Inc.
Discordant phenotype and sterol biochemistry in Smith–Lemli–Opitz syndrome
Authors: Koo Grace , Conley Sandra K. , Wassif Christopher A. , Porter Forbes D. 
Published: July 2010

AbstractSmith–Lemli–Opitz syndrome (SLOS) is a malformation syndrome resulting from mutations of the 7‐dehydrocholesterol reductase (DHCR7) gene. During cholesterol biosynthesis, DHCR7 catalyzes the conversion of 7‐dehydrocholesterol (7DHC) to cholesterol. A clinical diagnosis of SLOS is confirmed biochemically by the presence of elevated levels of 7DHC. Phenotypic severity of SLOS has previously been shown to correlate with the 7DHC/cholesterol ratio. We describe a patient with a severe SLOS phenotype, but a very low serum 7DHC/cholesterol ratio. We show that this discordance is due to alternative splicing of a previously unreported IVS5+3 A>T mutation. This mutation results in the transcription of both normal and mutant mRNA transcripts. We postulate that alternative splicing of the IVS5+3 A>T results in insufficient DHCR7 activity during embryogenesis, but sufficient DHCR7 activity once cholesterol synthetic rates decrease postnatally. This unique case underscores the adjunctive use of fibroblast and molecular testing in ambiguous cases of SLOS and may provide insight into the potential efficacy of therapeutic interventions altering postnatal cholesterol biosynthesis. Published 2010 Wiley‐Liss, Inc.