bluuebunny/crossref_metadata_2025_split huggingface dataset:
Impact of a novel 14 bp MEN1 deletion in a patient with hyperparathyroidism and gastrinoma
Authors: Birla Shweta , P Jyotsna Viveka , Singla Rajiv , Tripathi Madhavi , Sharma Arundhati 
Published: June 2015

Summary
Multiple endocrine neoplasia type 1 (MEN-1) is a rare autosomal-dominant disease characterized by tumors in endocrine and/or non endocrine organs due to mutations in MEN1 encoding a nuclear scaffold protein‘menin’ involved in regulation of different cellular activities. We report a novel 14 bp MEN1 deletion mutation in a 35-year-old female with history of recurrent epigastric pain, vomiting, loose stools and weight loss. On evaluation she was diagnosed to have multifocal gastro-duodenal gastrinoma with paraduodenal lymph nodes and solitary liver metastasis. She was also found to have primary hyperparathyroidism with bilateral inferior parathyroid adenoma. Pancreatico-duodenectomy with truncalvagotomy was performed. Four months later, radiofrequency ablation (RFA) of segment 4 of the liver was done followed by three and a half parathyroidectomy. MEN1 screening was carried out for the patient and her family members. MEN-1 sequencing in the patient revealed a heterozygous 14 bp exon 8 deletion. Evaluation for pathogenicity and protein structure prediction showed that the mutation led to a frameshift thereby causing premature termination resulting in a truncated protein. To conclude, a novel pathogenic MEN1 deletion mutation affecting its function was identified in a patient with hyperparathyroidism and gastrinoma. The report highlights the clinical consequences of the novel mutation and its impact on the structure and function of the protein. It also provides evidence for co-existence of pancreatic and duodenal gastrinomas in MEN1 syndrome. MEN1 testing provides important clues regarding etiology and therefore should be essentially undertaken in asymptomatic first degree relatives who could be potential carriers of the disease.

Learning points

Identification of a novel pathogenic MEN1 deletion mutation.

MEN1 mutation screening in patients with pituitary, parathyroid and pancreatic tumors, and their first degree relatives gives important clues about the etiology.

Pancreatic and duodenal gastrinomas may co-exist simultaneously in MEN1 syndrome.
Spontaneous cervical haemorrhage of a parathyroid adenoma
Authors: Ulrich Lara , Knee Graham , Todd Colin 
Published: June 2015

Summary
Haemorrhage of a parathyroid adenoma is a rare clinical presentation. This report describes a previously fit and well 54-year-old woman who presented with acute neck swelling and pain with an overlying ecchymosis. Admission laboratory tests revealed a raised parathyroid hormone and hypercalcaemia. A computed tomography (CT) scan showed widespread anterior cervical haemorrhage and a lesion at the inferior pole of the left thyroid gland. A working diagnosis of spontaneous haemorrhage from a parathyroid adenoma was made. As she was haemodynamically stable, she was treated conservatively with a period of observation in hospital to monitor for signs of neck organ compression. Follow-up imaging with CT, ultrasound and sestamibi confirmed the likely source of haemorrhage as a parathyroid nodule with significant vascularity. The diagnosis was confirmed on histopathological analysis after elective surgical exploration of the neck 6 months after her presentation. This revealed a benign parathyroid adenoma with evidence of acute and chronic bleeding. The patient made a full recovery with immediate normalisation of her biochemistry post-operatively. Despite developing a hoarse voice in the immediate post-operative period, this resolved completely within 1 month. This case report provides further evidence to support a minimal delay for elective surgery after conservative management to reduce the risks associated with recurrent bleeding.

Learning points

Haemorrhage of a parathyroid adenoma should be a differential for all cases of acute cervical swelling or ecchymosis with no precipitating factor.

The clerking should identify any risk factors for endocrine disease.

Blood tests to screen for abnormal parathyroid biochemistry should be performed on admission.

Detailed imaging of the neck is essential to identify the source of haemorrhage and risk of compression to vital neck organs.

Conservative management is a suitable option for patients who remain haemodynamically stable but all should undergo a period of observation in hospital.

Conservatively managed patients should be considered for definitive surgical exploration within a month of presentation to avoid the risks of recurrent bleeding.
STAT5B mutations in heterozygous state have negative impact on height: another clue in human stature heritability
Authors: Scalco Renata C , Hwa Vivian , Domené Horacio M , Jasper Héctor G , Belgorosky Alicia , Marino Roxana , Pereira Alberto M , Tonelli Carlos A , Wit Jan M , Rosenfeld Ron G , Jorge Alexander A L 
Published: June 2015

Context and objectiveGH insensitivity with immune dysfunction caused by STAT5B mutations is an autosomal recessive condition. Heterozygous mutations in other genes involved in growth regulation were previously associated with a mild height reduction. Our objective was to assess for the first time the phenotype of heterozygous STAT5B mutations.MethodsWe genotyped and performed clinical and laboratory evaluations in 52 relatives of two previously described Brazilian brothers with homozygous STAT5B c.424_427del mutation (21 heterozygous). Additionally, we obtained height data and genotype from 1104 adult control individuals from the same region in Brazil and identified five additional families harboring the same mutation (18 individuals, 11 heterozygous). Furthermore, we gathered the available height data from first-degree relatives of patients with homozygous STAT5B mutations (17 individuals from seven families). Data from heterozygous individuals and non-carriers were compared.ResultsIndividuals carrying heterozygous STAT5B c.424_427del mutation were 0.6 SDS shorter than their non-carrier relatives (P=0.009). Heterozygous subjects also had significantly lower SDS for serum concentrations of IGF1 (P=0.028) and IGFBP3 (P=0.02) than their non-carrier relatives. The 17 heterozygous first-degree relatives of patients carrying homozygous STAT5B mutations had an average height SDS of −1.4±0.8 when compared with population-matched controls (P< 0.001).ConclusionsSTAT5B mutations in the heterozygous state have a significant negative impact on height (∼3.9 cm). This effect is milder than the effect seen in the homozygous state, with height usually within the normal range. Our results support the hypothesis that heterozygosity of rare pathogenic variants contributes to normal height heritability.
Personal Belief Exemptions to Vaccination in California: A Spatial Analysis
Authors: Carrel Margaret , Bitterman Patrick 
Published: June 2015

BACKGROUND:
School vaccination rates in California have fallen as more parents opt for personal belief exemptions (PBEs) for their children. Our goals were to (1) spatially analyze PBE patterns over time, (2) determine correlates of PBEs, and (3) examine their spatial overlap with personal medical exemptions (PMEs).

METHODS:
PBE and PME data for California kindergarten classes from the 2001/2002 to 2013/2014 school years were matched to the locations of schools. Nonspatial clustering algorithms were implemented to group 5147 schools according to their trends in PBE percentages among kindergartners. Cluster assignments were mapped and hotspot analysis was performed to find areas in California where schools sharing trends in PBEs over time were colocated. Schools were further associated both with school-level data on minority enrollment and free and reduced price lunch participation and with charter/private and rural/urban status. Spatial regression was implemented to determine which school-level variables were correlated with PBE rates in the 2013/2014 school year.

RESULTS:
Distinct spatial patterns are observed in California when PBE cluster assignments are mapped. Results indicate that schools belonging to the “high PBE” cluster are spatially buffered from those in “low PBE” areas by “medium PBE” schools. Further, PBE rates are positively associated with the percentage of white students, charter status, and private schools.

CONCLUSIONS:
Hotspots of high PBE schools are in some cases colocated with schools that have elevated PME rates, prompting concern that herd immunity is diminished for school populations where students have no choice but to remain unvaccinated.
p-type nc-SiOx:H emitter layer for silicon heterojunction solar cells grown by rf-PECVD
Authors: Gatz Henriette A. , Kuang Yinghuan , Verheijen Marcel A. , Rath Jatin K. , Kessels Wilhelmus M.M. (Erwin) , Schropp Ruud E. I. 
Published: June 2015

ABSTRACTSilicon heterojunction solar cells (SHJ) with thin intrinsic layers are well known for their high efficiencies. A promising way to further enhance their excellent characteristics is to enable more light to enter the crystalline silicon (c-Si) absorber of the cell while maintaining a simple cell configuration. Our approach is to replace the amorphous silicon (a-Si:H) emitter layer with a more transparent nanocrystalline silicon oxide (nc-SiOx:H) layer. In this work, we focus on optimizing the p-type nc-SiOx:H material properties, grown by radio frequency plasma enhanced chemical vapor deposition (rf PECVD), on an amorphous silicon layer.20 nm thick nanocrystalline layers were successfully grown on a 5 nm a-Si:H layer. The effect of different ratios of trimethylboron to silane gas flow rates on the material properties were investigated, yielding an optimized material with a conductivity in the lateral direction of 7.9×10-4 S/cm combined with a band gap of E04 = 2.33 eV. Despite its larger thickness as compared to a conventional window a-Si:H p-layer, the novel layer stack of a-Si:H(i)/nc-SiOx:H(p) shows significantly enhanced transmission compared to the stack with a conventional a-Si:H(p) emitter. Altogether, the chosen material exhibits promising characteristics for implementation in SHJ solar cells.
A relação entre liderança e cultura organizacional: um estudo realizado em uma IES
Authors: Gonçalves Andressa , Trevisol Nicole Pasini , Lopes Mauricio Capobianco , Soethe Joseane da Silva 
Published: June 2015

A realização desta pesquisa teve como objetivo identificar os estilos de liderança e qual o tipo de cultura organizacional presente na instituição de ensino superior pesquisada, bem como a relação entre esses dois artefatos no contexto educacional estudado. Para tal, buscou-se como referenciais teóricos o conceito de cultura organizacional, liderança transacional e transformacional e ainda, a relação entre cultura e liderança. Os dados foram coletados por meio da aplicação de um questionário “in loco” com 94 gestores de uma das unidades da instituição estudada, a fim de compreender as relações entre quatro tipos de cultura: clã, hierárquica, inovativa e de mercado - juntamente com dois estilos de liderança: a transacional e a transformacional. Os resultados indicaram que a cultura de clã foi a que mais representa a instituição estudada, conforme os seus respondentes e o estilo de liderança dos seus gestores é representado pela liderança transformacional. A pesquisa revelou ainda quais os tipos de cultura são mais ou menos toleráveis a determinado estilo de liderança, por meio da técnica estatística de correlação de Spearman.Palavras-chave: Níveis de Cultura. Liderança. Gestão. Instituição de Ensino Superior.
A influência do compromisso e da confiança para a efetividade de um arranjo produtivo local: um estudo do arranjo produtivo local de hortifrutigranjeiros de Veranópolis-RS
Authors: Breitenbach Renato , Bencke Fernando Fantoni , Breitenbach Ilciane Maria Sganzerla 
Published: June 2015

O presente artigo aborda um estudo de caso sobre a prática do marketing de relacionamento entre os membros da cadeia de suprimentos de um arranjo produtivo local de hortifruticultura na cidade de Veranópolis-RS. Objetiva analisar as relações de compromisso e confiança como base de fortalecimento das relações entre os atacadistas, distribuidores e varejistas, de acordo com as práticas do marketing de relacionamento. Como método de pesquisa, utiliza abordagem qualitativa, de caráter exploratório e descritivo. Foram realizadas entrevistas individuais em profundidade com os principais executivos das empresas estudadas, observação não participante e análise documental. A técnica de análise utilizada foi análise de conteúdo. Pelos resultados é possível concluir que a presença das variáveis confiança e compromisso nas relações pesquisadas é resultado de investimentos relevantes e significativos de longo prazo, envolvendo planejamento conjunto. No ambiente estudado, por vezes, as relações de confiança e comprometimento estão presentes, além do oportunismo percebido em algumas relações.Palavras-chave: Compromisso. Confiança. Marketing de Relacionamentos. Arranjos Produtivos. Cadeia de Suprimentos.
Estudo sobre o histórico de atuação do Sebrae na consultoria para micro e pequenas empresas brasileiras
Authors: Ralio Vanise Rafaela Zivieri , Donadone Julio Cesar 
Published: June 2015

No cenário organizacional brasileiro destaca-se a presença e cada vez maior das micro e pequenas empresas (MPEs), tendo como consequência a crescente demanda por serviços de suporte à sua gestão. Nesse sentido, o presente artigo visa contribuir para o entendimento do espaço de consultoria brasileiro, principalmente no que se refere a sua relação com as MPEs, particularmente analisando as formas de atuação do Sebrae, desde seu surgimento dentro deste espaço e sua participação no fortalecimento deste segmento. Trata-se de uma pesquisa exploratória, partindo-se de revisão bibliográfica sobre o tema e de realização de entrevistas semiestruturadas com funcionários, consultores e ex-presidentes da instituição. A análise se deu de forma qualitativa considerando como base a análise cronológica dos dados. Os resultados permitem notar os principais produtos oferecidos pelo Sebrae, ao longo de seu histórico, e identifica-se o seu papel no fornecimento de consultoria para as MPEs e como grande produtor de conhecimento acerca do setor e também como agente articulador entre as instituições que se relacionam com o segmento.Palavras-chave: Micro e Pequenas Empresas. Consultoria Organizacional. Espaço de Consultoria Brasileiro. Sebrae.
Análise da contribuição do business to business na gestão de cadeias de suprimentos
Authors: Nunes Rodolfo Modrigais Strauss , Mollo Neto Mario 
Published: June 2015

Este artigo analisa a contribuição do comércio eletrônico Business to Business (B2B) na gestão de cadeias de suprimentos, identificando os principais processos desenvolvidos por meio de tais ferramentas nas operações de grandes corporações brasileiras, destacando suas vantagens e desvantagens. Para tanto, pesquisaram-se temas como e-commerce, gerenciamento de cadeias de suprimentos e redes de negócios. Com base no referencial teórico levantado, realizou-se uma pesquisa de campo tipo survey baseada em questionários com formulários disponibilizados pela Internet. Dez empresas importantes da região metropolitana de São Paulo, que utilizam aplicações de B2B, participaram da pesquisa, e dentre os vários resultados obtidos, constatou-se que o e-commerce B2B está consolidado como um importante suporte à gestão de cadeias de suprimentos ou redes de empresas, aperfeiçoando os relacionamentos, a troca de informações e as operações entre as empresas envolvidas, aumentando o potencial de competitividade.Palavras-chave: E-commerce B2B. Gestão de Cadeias de Suprimentos. Redes de Empresas.
Gender and Care in Mediterranean Societies, two case studies (Italy, Spain): analysis, diagnostic, new proposals
Authors: Del Prete Annachiara , Cuadrada Coral 
Published: June 2015

<p>Empezando en los años 70 y siguiendo las huellas dejadas por los movimientos por los derechos de las mujeres, los varones comenzaron a cuestionarse y reflexionar sobre su experiencia sexual, y el significado de ser masculino, su manera de desconstrucción de muchos de los roles dominantes de virilidad, y en su su lugar la construcción de una demanda por libertad y de una redefinición simbólica de masculinidad. En su redefeinición simbólica encontramos el rol del hombre cariñoso, opuesto al estereótipo prediminante que le limita como el sostén de la familia en exclusiva. En este papel analizamos, en diversos niveles interpretativos, la situación real de la práctica del cariño, especialmente qué entienden por ello las sociedades españolas e italianas, con la ayuda de dos estudios de caso. Nuestra propuesta está basada en el deseo de verificar en el campo el alcance en las sociedades estuidadas (que podría ser plenamente representativa de las sociedades mediterraneas en general) de la asunción o no de la aproximción feminista, al objeto de ofrecer una propuesta inovadora basada en evidencias teóricas y empíricas.</p><p> </p>
Las actitudes hacia las necesidades educativas especiales en función del género: Implementación y evaluación de un programa de ApS en el ámbito universitario
Authors: Liesa Orús Marta , Vázquez Toledo Sandra , Arranz Martínez Pilar , Otal Piedrafita Pilar 
Published: June 2015

<p>En esta investigación analizamos los resultados de la implementación de un programa educativo. Este programa pretende completar la formación en atención a la diversidad de los alumnos y alumnas del Grado de Maestro de Educación Primaria apoyándose en la metodología de aprendizaje servicio. Los resultados muestran que los alumnos de Magisterio varones presentan actitudes menos positivas hacia la inclusión de las personas con necesidades educativas especiales, basadas en la teoría y en el modelo del déficit. Estas actitudes se corrigen cuando se ha implementado el programa a través de las estrategias de formación y contacto con personas con discapacidad. Planteamos una investigación cuasi-experimental pretest-postest con grupo de control no equivalente, la muestra son los alumnos y alumnas de segundo de Magisterio del curso 2012-2013.</p><p> </p>
Renovación tipológica y funcional en cascos históricos: participación, conflictos y resultados. Un análisis a través de estudios de caso en las ciudades de Cáceres y Badajoz
Authors: Barrado Timón Diego A. , García Baltodano Kenia , Porras Alfaro David 
Published: June 2015

El presente texto estudia los procesos de integración y aceptación social de nuevas funciones y lenguajes arquitectónicos en conjuntos históricos con un alto grado de protección, con una imagen y un simbolismo muy consolidados en relación con el espacio urbano y con gran significado para la mayor parte de la población. A partir de los estudios de caso del hotel Atrio Relais &amp; Châteaux de Cáceres y de la Facultad de Biblioteconomía y Documentación de Badajoz, se profundiza en las posturas de los agentes sobre dichos proyectos, así como en los procesos de conflicto y negociación derivados. Con base en este análisis empírico se sistematizan las posiciones a favor y en contra, y se plantean conclusiones referidas al papel que dicha participación social ha tenido tanto en la configuración final de cada uno de los proyectos como en cuanto a la aceptación social de los mismos. El texto se cierra con una valoración de los casos analizados desde el punto de vista social y ambiental, y con una serie de conclusiones y elementos para posteriores investigaciones y debates.
Ventajas competitivas y desarrollo metropolitano. El caso del sistema manufacturero turinés
Authors: Conti Sergio 
Published: June 2015

<p>Este artículo plantea el problema de la competitividad local/regional en la era de la globalización económica contextualizado en el ámbito del debate abierto en la ciencia geográfica y la ciencia social en general. Se presta especial atención en buscar un nexo claro con el fenómeno típico de la economía contemporánea, en la que se observa, de un lado, una creciente desindustrialización de la economía occidental, y de otro lado, la búsqueda paralela de actividad y actores dentro de su propio ámbito de referencia y acción.</p> <p>Este cuadro dialéctico y contradictorio se ilustra de forma empírica con la referencia al caso de la región manufacturera de Turín, un área altamente industrializada que ha representado en el siglo que termina uno de los modelos más notables de organización fordista del trabajo, centrado en la producción automovilística. La transición hacia una economía post-fordista muestra en particular la ruptura con aquella lógica organizativa y la afirmación de nuevos sistemas productivos que reclaman, consiguientemente, nuevos modos de conocimiento y políticas.</p>
Historias de la Meibukan Gojyu Ryu Karate según Yagi Meitatsu
Authors: Toth Robert 
Published: June 2015

<p class="MsoNormal" style="text-align: justify; margin: 0cm 0cm 6pt;"><span style="mso-ansi-language: EN-US;" lang="EN-US"><span style="font-size: small;"><span style="font-family: Calibri;">Gojyu-ryu karate has the distinction of being the first of the Okinawan karate styles to be officially named (Higaonna, 1995: 68). Miyagi Chojun created the style and formally registered the name with the Japanese Government in 1933 (Hiagonna, 1985: 28). The late<span style="mso-spacerun: yes;"> </span>Yagi Meitoku was Miyagi Chojun’s most senior karate student. After Miyagi Chojun’s death, the Miyagi family chose Yagi Meitoku to carry on the style’s traditions. Yagi taught the system to his two sons. The oldest son, Meitatsu, carries on not only the style’s technical finesses and its philosophy, but also the stories that make up its history.</span></span></span></p>
La Regla Taiji: el legado del Inmortal Durmiente
Authors: Cohen Kenneth S. 
Published: June 2015

<p class="MsoNormal" style="text-align: justify; margin: 0cm 0cm 6pt;"><span style="mso-ansi-language: EN-GB;" lang="EN-GB"><span style="font-size: small;"><span style="font-family: Calibri;">This article describes the history, development, and principles of the two major Taiji Ruler lineages: one associated with the Song Dynasty (960-1279 CE) imperial family, and the other lesser known, Daoist lineage, transmitted by Hu Yaozhen and his successors, including the well known Chen Style Taijiquan teacher, Feng Zhiqiang. The Taiji Ruler is a traditional system of health-enhancing qigong that is attributed to the Song Dynasty Daoist recluse Chen Xiyi and was first taught publicly in the 1950s. The exercises may be practiced while holding a foot-long wooden object, the Ruler, or with a variety of training devices, such as a wooden or stone ball. Mr. Cohen began studying Taji Ruler with various teachers more than 30 years ago, but also bases his research on works in Chinese and English. Both the teachers and literature agree that the ultimate goal of the Ruler is to blend with the original qi of the universe and, in the process, to achieve vitality and longevity. <span style="mso-spacerun: yes;"> </span></span></span></span></p>
Manadas & lobos solitarios. Entrevista con Ellis Amdur sobre las tradiciones marciales japonesas
Authors: Hobart Peter 
Published: June 2015

<p>There are some significant differences in the manner that the classical Japanese martial arts are practiced in the East and in the West. Among these are the student-teacher relationship, the degree of formality and the level of emphasis on etiquette in the dojo. In this interview, noted martial arts teacher Ellis Amdur, who spent thirteen of his more than forty years of martial practice studying in Japan, explores these and other concepts, vital to anyone who wishes to understand the way these arts are (or were) taught in the country of their origin. He also discusses the two particular martial systems (<em>koryu</em>) which he is licensed to teach: Araki-ryu, a rugged system that emphasizes close combat; and Toda-ha Buko-ryu, a system specializing in the use of the naginata against a variety of weapons.</p>