bluuebunny/crossref_metadata_2025_split huggingface dataset:
Functional characterizations of rare UBA1 variants in X-linked Spinal Muscular Atrophy
Authors: Balak Chris D. , Hunter Jesse M. , Ahearn Mary E. , Wiley David , D'urso Gennaro , Baumbach-Reardon Lisa 
Published: September 2017

Background:X-linked spinal muscular atrophy (XL-SMA) results from mutations in the Ubiquitin-Like Modifier Activating Enzyme 1 (UBA1). Previously, four novel closely clustered mutations have been shown to cause this fatal infantile disorder affecting only males. These mutations, three missense and one synonymous, all lie within Exon15 of theUBA1gene, which contains the active adenylation domain (AAD).Methods:In this study, our group characterized the three known missense variantsin vitro. Using a novel Uba1 assay and other methods, we investigated Uba1 adenylation, thioester, and transthioesterification reactionsin vitroto determine possible biochemical effects of the missense variants.Results:Our data revealed that only one of the three XL-SMA missense variants impairs the Ubiquitin-adenylating ability of Uba1. Additionally, these missense variants retained Ubiquitin thioester bond formation and transthioesterification rates equal to that found in the wild type.Conclusions:Our results demonstrate a surprising shift from the likelihood of these XL-SMA mutations playing a damaging role in Uba1’s enzymatic activity with Ubiquitin, to other roles such as alteringUBA1 mRNA splicing via the disruption of splicing factor binding sites, similar to a mechanism in traditional SMA, or disrupting binding to other importantin vivobinding partners. These findings help to narrow the search for the areas of possible dysfunction in the Ubiquitin-proteasome pathway that ultimately result in XL-SMA. Moreover, this investigation provides additional critical understanding of the mutations’ biochemical mechanisms, vital for the development of future effective diagnostic assays and therapeutics.
The age of heterozygous telomerase mutant parents influences the adult phenotype of their offspring irrespective of genotype in zebrafish
Authors: Scahill Catherine M. , Digby Zsofia , Sealy Ian M. , White Richard J. , Collins John E. , Busch-Nentwich Elisabeth M. 
Published: September 2017

Background: Mutations in proteins involved in telomere maintenance lead to a range of human diseases, including dyskeratosis congenita, idiopathic pulmonary fibrosis and cancer. Telomerase functions to add telomeric repeats back onto the ends of chromosomes, however non-canonical roles of components of telomerase have recently been suggested.Methods: Here we use a zebrafish telomerase mutant which harbours a nonsense mutation intertto investigate the adult phenotypes of fish derived from heterozygous parents of different ages. Furthermore we use whole genome sequencing data to estimate average telomere lengths.Results: We show that homozygous offspring from older heterozygotes exhibit signs of body wasting at a younger age than those of younger parents, and that offspring of older heterozygous parents weigh less irrespective of genotype. We also demonstrate thatterthomozygous mutant fish have a male sex bias, and that clutches from older parents also have a male sex bias in the heterozygous and wild-type populations. Telomere length analysis reveals that the telomeres of younger heterozygous parents are shorter than those of older heterozygous parents.Conclusions: These data indicate that the phenotypes observed in offspring from older parents cannot be explained by telomere length. Instead we propose that Tert functions outside of telomere length maintenance in an age-dependent manner to influence the adult phenotypes of the next generation.
Which resuscitated patients benefit from PPCI after out-of-hospital cardiac arrest?
Authors: Hobson Mark 
Published: September 2017

Background: Survival of prehospital cardiac arrest remains low and variable. Angiography in cardiac arrest survivors shows a high incidence of ischaemic heart disease and myocardial infarction (MI) which are treated at regional ambulance centres in the UK. Methods: A literature search was performed using the health-care databases, Medline and CINAHL, in order the answer the question: ‘Which resuscitated patients benefit from PPCI after out of hospital cardiac arrest?’. There was a screening process to ensure precise relevance to the research question. Findings: 163 articles were found using Medline and CINAHL. After screening, 11 articles were reviewed in text. The evidence favours the intervention and demonstrates increased survival rates when PPCI is available for patients with cardiac arrest following an MI. The ECG is useful to predict coronary occlusion, but cannot rule it out. Increased journey time to reach a regional PPCI centre appears unlikely to impact negatively upon prognosis. Conclusions: There are currently no randomised controlled trials answering this question, and the evidence that is available is frequently influenced by selection bias. There is a need to identify patients who will not benefit from the intervention so that a clinical decision rule can be developed to guide practice.
Kandungan Tembaga (Cu) dan Timbal (Pb) pada Lamun Enhalus accoroides dari Perairan Batam, Kepulauan Riau, Indonesia
Authors: Ismarti Ismarti , Ramses Ramses , Amelia Fitrah , Suheryanto Suheryanto 
Published: September 2017

The objective of the present study was to analyze the metal content of copper and lead in Enhalus accoroides seagrass in Batam Island waters. Samples of seagrass (E. accoroides) were collected from six locations along the western region of Batam Island then dried and performed with acid destruction. The measurements of Cu and Pb in the samples were conducted by Atomic Absorption Spectrophotometer. The result showed that there was an increasing of copper and lead contaminant level on sample E accoroides during two periods in a year. The Cu level ranged from 0.63 to 46.1 mg/kg, meanwhile, lead level ranged from 2.14 to 10.52mg/kg respectively. The highest accumulation of copper and lead were recorded on leaves, it was reached 10.81 mg/kg and 5.98mg/kg, respectively.Penelitian ini bertujuan menganalisis kandungan logam tembaga (Cu) dan timbal (Pb) pada lamun Enhalus accoroides di sepanjang perairan barat Pulau Batam. Sampel lamun dikumpulkan dari enam lokasi kemudian dikeringkan dan dilakukan destruksi dengan asam. Penentuan kadar logam tembaga dan timbal dalam sampel dilakukan dengan spektrometri serapan atom. Hasil penelitian menunjukan adanya peningkatan kadar logam Cu dan Pb pada sampel lamun E. accoroides selama 2 periode sampling dalam 1 tahun. Kadar logam Cu dan Pb pada lamun secara berturut berada pada rentang 0.63-46.1 mg/kg dan 2.14-10.52mg/kg. Akumulasi logam Cu dan Pb dalam lamun E. accoroides tertinggi pada bagian daun sebanyak 10.81 mg/kg Cu dan 5.98 mg/kg Pb.
Analisis kualitas perairan berdasarkan metode indeks pencemaran di Pesisir Timur Kota Surabaya
Authors: Guntur Guntur , Yanuar Adi Tiya , Sari Syarifah H. J. , Kurniawan Andi 
Published: September 2017

Pollution has become the serious problem in aquatic ecosystems in Indonesia including east part of the coastal area of Surabaya City. One of the methods that can be used to analyze water quality in the coastal area is pollution index method. The method can provide information related to existing water quality in respect of utilization plan. The purpose of this study is to analyze the water quality in the coastal area in East part of Surabaya City based on the physical and chemical parameters, and then, analyze the data using pollution index method. The sampling points of this study are 10 areas in the coastal area in East Part of Surabaya City. The result of this study showed that the water parameters in the sampling points are described as follows: salinity (23.2 ± 7.33‰), pH (7.156 ± 0.356), dissolved oxygen (9.46 ± 3.364 mg/L), temperature (29 ± 1.4 °C), total suspended solid (91.9 ± 109.3 mg/L), fisibility (25.15 ± 8.9 cm), ammonia (1.3 ± 1.1 mg/L), nitrate (0.095 ± 0.14 mg/L) dan biological oxygen demand (3.738 ± 0.956 mg/L). This study indicated that the value of pollution index in East Part of Surabaya City coastal area is 4.6 that indicated the areas are slightly polluted.Pencemaran merupakan sebuah permasalahan bagi sebagian besar wilayah perairan di Indonesia termasuk wilayah perairan di pesisir timur kota Surabaya. Salah satu cara untuk menganalisis kualitas perairan di wilayah pesisir adalah dengan menggunakan metode Indeks Pencemaran. Metode ini dapat memberikan informasi mengenai kondisi perairan sesuai peruntukannya. Tujuan dari penelitian adalah menganalisis kondisi perairan Pesisir Timur Kota Surabaya berdasarkan parameter fisika dan kimia serta menganalisa nilai indeks pencemaran Perairan Pesisir Timur Kota Surabaya. Penelitian ini dilakukan dengan mengambil sampel di 10 titik di Perairan Pesisir Timur Kota Surabaya. Hasil dari penelitian ini menunjukkan nilai rata-rata parameter fisika dan kimia adalah sebagaimana berikut: salinitas 23,2 ± 7,33‰, derajat keasaman (pH) 7,156 ± 0,356, dissolved oxygen 9,46 ± 3,364 mg/L, suhu 29 ± 1,4 °C, total padatan tersuspensi 91,9 ± 109,3 mg/L, kecerahan 25,15 ±8,9 cm, amoniak 1,3 ± 1,1 mg/L, nitrat 0,095 ± 0,14 mg/L dan Biological Oxygen Demand 3,738 ± 0,956 mg/L. Penelitian ini menunjukkan kalau nilai indeks pencemaran di Perairan Pesisir Timur Kota Surabaya adalah 4,6 yang mengindikasikan perairan ini dalam kondisi tercemar ringan
Moving Towards Legitimate Participation. A Venezuelan Girl Learning English in an Iowa City Elementary School
Authors: Plata-Ramíez José Miguel 
Published: September 2017

This qualitative case study seeks to understand and describe, in depth, the different learning processes in which a nine-year old, Venezuelan girl (Victoria) engaged to reaffirm her identity as a language learner and become a legitimate member of a community of practice during the first six months in an Iowa City Elementary School. Data collection included observations in class and at home, field notes, interviews, oral and written artifacts and e-mails. Analysis was made through a constant comparison of the data to reflect on the potential categorizations of the artifacts considering mainly two theoretical constructs: “legitimate peripheral participation” (Lave & Wenger, 1991) and “collaborative relations of power” (Cummins, 1996). Results suggest that students engage more actively in activities, which are designed to construct meaning through social participation. Legitimate participation in school activities helped Victoria improve her English language ability and reaffirm her identity. The speed with which she learned English at school is mainly due to the solid community of practice she had the fortune to participate in and Mrs. Brown’s mediation. The more she interacted, the better she performed; and the better she performed, the more she interacted. This research offers alternative ways to understand Victoria’s experience as a language learner, the complexity of a second language learning process, and the fundamental role teachers need to perform to mediate in the students’ learning to reaffirm their identities. This study represents an exemplary reflection of what we, as classroom teachers, SL/foreign language teachers, should do in our classrooms if we really want to offer students real opportunities to learn the language and help them reaffirm their identity as language learners.
ESPECTRO DE FUČIK PARA EL PROBLEMA DE VALOR FRONTERA STURM-LIOUVILLE
Authors: Rojas Romero Santiago César 
Published: September 2017

En este trabajo consideramos la ecuación de fučik en Ω = < 0, π > con condiciones de frontera Sturm-Liouville. Obtenemos su espectro de Fučik, así como la descripción completa y las propiedades de las curvas contenidas en él
Relaciones entre ética profesional y desempeño laboral en profesores de un distrito del cono norte de Lima
Authors: Torres Valladares Manuel , Lajo Lazo Rosario 
Published: September 2017

El propósito fundamental del presente trabajo de investigación fue obtener una descripción de cómo percibe el docente su ética profesional y cómo este se relaciona con su desempeño laboral. Este tema es trascendente en tanto estamos en una época en la cual se dice que se han perdido los valores. Se busca, por tanto, propiciar que estos sean retomados en el aula para que los estudiantes, al egresar, sean personas comprometidas no solo con su quehacer profesional sino también con su entorno: su comunidad, su país y el planeta mismo, y en este aspecto la ética y el quehacer profesional del docente son fundamentales.En el desarrollo de la presente investigación se utilizó el Inventario de comportamiento ético docente de Ana Hirsch Adler y el inventario de desempeño laboral de Manuel Torres. Los análisis estadísticos a los que fueron sometidas las pruebas nos indican que los instrumentos son validos y confiables. Estas pruebas fueron aplicadas a 304 docentes de un distrito de Lima. Los resultados estadísticos nos indican que la ética profesional se encuentra relacionada significativamente al desempeño laboral de los docentes, así mismo se encontró que existen diferencias entre los docentes de las instituciones educativas de la muestra respecto de las variables en estudio.
Actitudes de creatividad y emprendimiento y la intención de desarrollar un negocio en estudiantes de la Universidad Nacional Agraria - La Molina
Authors: Loli Alejandro , Del Carpio G. Javier , Aliaga G. Jorge , Vergara V. Arturo 
Published: September 2017

El presente estudio tiene por objetivo conocer las actitudes de creatividad y emprendimiento y la intención de desarrollar un negocio de los estudiantes de la Universidad Nacional Agraria - Molina, Lima - Perú, en una muestra de 262 sujetos que estudian diversas especialidades, encontrándose todos ellos entre el primer y décimo ciclo de estudios.Los resultados nos indican que la mayoría de estudiantes tienen una actitud positiva hacia la creatividad y el emprendimiento. De allí que se encuentre una asociación igualmente significativa con la intención de desarrollar un negocio. Igualmente, un análisis separado de los componentes del emprendimiento con la intención de desarrollar un negocio arrojó una correlación significativa y positiva, aunque no así con optimismo, capacidad de adaptación y visión del futuro. Respecto de las variables demográficas y sociales y su relación con el emprendimiento (bajo, normal y alto), existe diferencia significatica con la experiencia laboral y ciclos de estudio en los que se encuentran; es decir, la intervención de dichas variablespermiten inferir diferencias de percepción en los niveles de creatividad y el empredimiento; en cambio, no existe asociación significativa con las variables como la edad, el género y el estado civil.
Recommendations for Prevention and Control of Influenza in Children, 2017 – 2018
Authors:   COMMITTEE ON INFECTIOUS DISEASES, Byington Carrie L. , Maldonado Yvonne A. , Barnett Elizabeth D. , Campbell James D. , Davies H. Dele , Edwards Kathryn M. , Lynfield Ruth , Munoz Flor M. , Nolt Dawn L. , Nyquist Ann- Christine , O’Leary Sean T. , Rathore Mobeen H. , Sawyer Mark H. , Steinbach William J. , Tan Tina Q. , Zaoutis Theoklis E. 
Published: September 2017

This statement updates the recommendations for routine use of the seasonal influenza vaccine and antiviral medications for the prevention and treatment of influenza in children. The American Academy of Pediatrics recommends annual seasonal influenza immunization for everyone 6 months and older, including children and adolescents. Highlights for the upcoming 2017–2018 season include the following:
1. Annual universal influenza immunization is indicated with either a trivalent or quadrivalent (no preference) inactivated vaccine;
2. The 2017–2018 influenza A (H1N1) vaccine strain differs from that contained in the 2016–2017 seasonal vaccines. The 2017–2018 influenza A (H3N2) vaccine strain and influenza B vaccine strains included in the trivalent and quadrivalent vaccines are the same as those contained in the 2016–2017 seasonal vaccines:
a. trivalent vaccine contains an A/Michigan/45/2015 (H1N1)pdm09-like virus, an A/Hong Kong/4801/2014 (H3N2)-like virus, and a B/Brisbane/60/2008-like virus (B/Victoria lineage); and
b. quadrivalent vaccine contains an additional B virus (B/Phuket/3073/2013-like virus [B/Yamagata lineage]);
3. Quadrivalent live attenuated influenza vaccine (LAIV4) is not recommended for use in any setting in the United States during the 2017–2018 influenza season. This interim recommendation, originally made in 2016, followed observational data from the US Influenza Vaccine Effectiveness Network revealing that LAIV4 performed poorly against influenza A (H1N1)pdm09 viruses in recent influenza seasons;
4. All children with an egg allergy of any severity can receive an influenza vaccine without any additional precautions beyond those recommended for any vaccine;
5. All health care personnel should receive an annual seasonal influenza vaccine, a crucial step in preventing influenza and reducing health care–associated influenza infections, because health care personnel often care for individuals at high risk for influenza-related complications; and
6. Pediatricians should attempt to promptly identify children suspected of having influenza infection for timely initiation of antiviral treatment, when indicated, to reduce morbidity and mortality. Best results are seen when treated within 48 hours of symptom onset.
A laparoszkópos és nyitott radikális hysterectomia összehasonlítása a méhnyakrák műtéti ellátásában
Authors: Lampé Rudolf , Póka Róbert 
Published: September 2017

Abstract: Introduction: Cervical cancer is one of the most common causes of death among women with malignant tumours. The two most common ways of surgical technique of early stage cervical cancer is the laparoscopy and the laparotomy. Aim: Our aim was to compare the intra- and postoperative results of total laparoscopic radical hysterectomy and abdominal radical hysterectomy. Method: Ten nerve sparing laparoscopic and 11 abdominal radical hysterectomies were performed from June 2016 until June 2017 because of early stage cervical cancer. Results were analysed retrospectively. Results: There was no significant difference between the two groups in the length of the operation, in blood loss and in intra- and postoperative complications. Significantly more lymph nodes were harvested by abdominal surgery and the length of hospitalisation was significantly shorter in the laparoscopy group. Conclusion: Results of total laparoscopic radical hysterectomy are comparable and not worse than abdominal radical hysterectomy. Laparoscopic way may have a priority because of the general advantages of laparoscopic surgery in the surgical treatment of early stage cervical cancer. Orv Hetil. 2017; 158(36): 1403–1409.
A komplikált gyász felismerése az orvos szemszögéből
Authors: Zelena András 
Published: September 2017

Abstract: By reviewing two bereavement support group cases I wish to demonstrate the important role a doctor, also receptive of his patients’ non-verbal signals, has in the early recognition of complicated grief and halted grief process. Doctors are aware of individual traumas and destinies, and general practitioners are familiar with the details of their patients’ life and home circumstances, could be catalysts for the continuation of the halted grief process. They discover the real cause of trauma behind several psychosomatic symptoms. For professionals working with bereavement support groups and meeting a number of different manifestations of the experience of absence and loss in people facing complicated grief (by its former, stigmatizing term: pathological or distorted grief), synchronizing the work of such heterogeneous groups of people, who have diverse loss history and individual (grief) habitus, is a real professional challenge. In such a work process the activity of doctors and health care workers can be supportive and could facilitate progress. Orv Hetil. 2017; 158(36): 1426–1431.
A perindopril/amlodipin szabad és fix kombinációk egyéves terápiahűsége
Authors: Simonyi Gábor , Ferenci Tamás , Medvegy Mihály , Gasparics Roland , Finta Ervin 
Published: September 2017

Abstract: Introduction: In management of hypertension patient adherence is one of the most important factors. In hypertension the cardiovascular risk reduction can be reached only by prolonged and effective pharmacotherapy. Aim: To evaluate the persistence of one-year treatment of free and fixed-dose combination of perindopril/amlodipine in hypertension. Method: Information from the National Health Insurance of Hungary prescriptions database on pharmacy claims between October 1, 2012 and September 30, 2013 was analysed. Authors identified patients who filled prescriptions for free and fixed-dose combination of perindopril/amlodipine, prescribed for the first time for hypertension. Patients have not received antihypertensive therapy with similar active substances during the one year before. Apparatus of survival analysis was used, where “survival” was the time to abandon the medication. As it was available to month precision, discrete time survival analysis was applied. Results: 109,248 patients met the inclusion criteria. Combination antihypertensive therapy with perindopril/amlodipine was started with a free or a fixed-dose combination of these agents in 19,365 and 89,883 patients, respectively. One year persistence rate in patients taking perindopril/amlodipine as a free combination was 27.15%, whereas it was 46.89% in those on the fixed-dose combination. Mean duration of persistence was 177.6 days in patients on the perindopril/amlodipine free, whereas 245.7 days on fixed-dose combination. Actual rate of discontinuation was approximately twice higher with the treatment of free, compared with the use of the fixed-dose combination (hazard ratio =1.94 [95% CI: 1.91–1.98], p<0.001). Orv Hetil. 2017; 158(36): 1421–1425.
Overview medical evidence of infanticide that examined in sanglah hospital forensic medical installation on year period 2010 - 2015
Authors: Loka Tika Pitha , Alit Ida Bagus Putu 
Published: September 2017

Background: Infanticide is intentional killing of newborns by their own mothers soon after they were born (< 24 hours) due to the fear of getting caught giving birth by other people. The evidence of infanticide can be found in some aspects such as the condition of the newborn (alive or dead), viability of the newborn, newbornâ€™s sign of being taken care of, sign of abuse, and the cause of death. Â Objective: This research aims to know the evidence of infanticide investigated in Forensic Medicine Installation of Sanglah hospital in 2010-2015. Methods: The method used in this research paper is cross-sectional descriptive. This research is also a retrospective study due to the time the infanticide case occurs which is in the past. Secondary data used in this research paper is taken from the medical records and the visum et repertum of infanticide cases in Forensic Medicine Installation of Sanglah hospital occur in 2010-2015. Results: shows only 18 out from 51 samples are met the criteria of inclusion. From those 18 samples of dead newborns data, all of them were live birth and viable (able to live outside the womb), 88.9% of newborns were not taken care of, 38.9% of abuse were in the form of contusion, and the most common (72.2%) cause of death in newborn was blunt injury such as strangulation, smothering, and compression of the chest. Conclusion: Signs of violence in infants that most commonly found are bruises injury while the most common cause of death in baby are due to blunt violence.