bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prevalence of hereditary transthyretin amyloid polyneuropathy in idiopathic progressive neuropathy in conurban areas
Authors: Thimm Andreas , Bolz Saskia , Fleischer Michael , Stolte Benjamin , Wurthmann Sebastian , Totzeck Andreas , Carpinteiro Alexander , Luedike Peter , Papathanasiou Maria , Rischpler Christoph , Herrmann Ken , Rassaf Tienush , Steinmüller-Magin Lars , Kleinschnitz Christoph , Hagenacker Tim 
Published: September 2019

AbstractBackgroundHereditary transthyretin amyloidosis (ATTR amyloidosis) is a rare, genetically heterogenous, and clinically variable autosomal dominant disease that severely reduces life expectancy. As treatment options grow, a proper diagnostic approach is mandatory especially in non-endemic regions with diverse genetic backgrounds.MethodsWe examined 102 neuropathy patients at a German neuromuscular centre. Common causes of polyneuropathy were ruled out by medical history and extensive laboratory testing to define a cohort of patients with progressive polyneuropathy classified as idiopathic. Molecular genetic testing of the entireTTRgene was performed, and the detected amyloidogenic and non-amyloidogenic variants were associated with the observed clinical phenotypes and results of prior diagnostic testing.ResultsTwo of 102 patients tested positive for amyloidogenic mutations (p.Ile127Val and p.Glu81Lys), while a variant of unknown significance, p.Glu26Ser, was found in 10 cases. In both positive cases, previous negative biopsy results were proved by gene sequencing to be false negative. In case of the p.Glu81Lys mutation we detected clinical presentation (combination of severe polyneuropathy and cardiomyopathy), ethnic background (patient of polish origin, mutation only reported in Japanese families before), and disease course clearly differed from well-known cases of the same mutation in the literature.ConclusionsIn conclusion, transthyretin hereditary amyloid polyneuropathy (ATTR-PN) should be considered in cases of otherwise idiopathic polyneuropathy. Sequencing of the four exons of theTTRgene should be considered the key step in diagnosis, while tissue biopsy possibly leads to false negative results.
Continuous Free Cortisol Profiles in Healthy Men
Authors: Bhake Ragini , Russell Georgina M , Kershaw Yvonne , Stevens Kara , Zaccardi Francesco , Warburton Viktoria E C , Linthorst Astrid C E , Lightman Stafford L 
Published: September 2019

Abstract

Context
In humans, approximately 95% of circulating cortisol is bound to corticosteroid-binding globulin and albumin. It is only the free fraction that is biologically active and can activate signaling pathways via glucocorticoid hormone receptors in cells. Microdialysis is a well-established technique that enables the sampling of molecules in different compartments of the body, including extracellular fluid. This is the first study validating a rapid sampling microdialysis method measuring free cortisol in the subcutaneous and blood compartments of healthy volunteers.

Methods
Healthy nonsmoking volunteers (42 men, aged 18–24 years; body mass index 18–25 kg/m2) received placebo (saline), 250 μg Synacthen, or 1 mg dexamethasone with 10-minute sampling to measure total and free cortisol (subcutaneous, intravenous, and saliva) for an hour before and 4 hours after administration.

Results
Following stimulation by Synacthen, total serum cortisol and free cortisol in both compartments rose significantly, achieving and maintaining maximum levels between 2 and 3 hours following the stimulus. A decline in cortisol levels was evident after the administration of dexamethasone or placebo, but there was a clear pulsatile activity around lunchtime in the latter group, which was prominent in the blood compartment (total and free cortisol). There was good correlation between serum total and free cortisol (subcutaneous and intravenous) in the Synacthen and dexamethasone groups with no significant delay (less than 5 minutes) between total and free cortisol.

Conclusions
This seminal study demonstrated the dynamic responses of total blood cortisol and microdialysis derived free cortisol in blood, subcutaneous tissue, and saliva in men.
Cortisol and Aldosterone Responses to Hypoglycemia and Na Depletion in Women With Non-Classic 21-Hydroxylase Deficiency
Authors: Kamenický Peter , Blanchard Anne , Lamaziere Antonin , Piedvache Céline , Donadille Bruno , Duranteau Lise , Bry Hélène , Gautier Jean-François , Salenave Sylvie , Raffin-Sanson Marie-Laure , Genc Seray , Pietri Laurence , Christin-Maitre Sophie , Thomas Julien , Lorthioir Aurelien , Azizi Michel , Chanson Philippe , Le Bouc Yves , Brailly-Tabard Sylvie , Young Jacques 
Published: September 2019

Abstract

Background
Non-classic 21-hydroxylase deficiency is usually diagnosed in post-pubertal women because of androgen excess. Indication of systematic steroid replacement therapy is controversial because the risk of acute adrenal insufficiency is unknown. In order to specify this risk we evaluated the cortisol and aldosterone secretions in response to appropriate pharmacologic challenges.

Methods
In this prospective case–control non-inferiority study we investigated 20 women with non-classic 21-hydroxylase deficiency carrying biallelic CYP21A2 mutations and with serum 17-hydroxyprogesterone (17OHP) &gt;10 ng/mL after stimulation with Synacthen® (tetracosactrin) and 20 age- and body mass index-matched healthy women with 17OHP after Synacthen® &lt;2 ng/mL. Each participant underwent sequentially an insulin tolerance test to evaluate cortisol secretion and a sodium depletion test, obtained by oral administration of 40 mg of furosemide under low sodium diet (&lt;20 mmol during 24 hours), to evaluate renin and aldosterone secretion.

Findings
The peak serum cortisol concentration after insulin hypoglycemia was lower in patients than in controls (mean difference –47 ng/mL, 90% CI, –66, P = 0.0026). A peak serum cortisol above a cutoff value of 170 ng/mL was obtained in all controls but only in 55% of patients (P = 0.0039). Twenty-four hours after sodium depletion, blood pressure, plasma sodium, potassium, and serum aldosterone concentrations were comparable between the two groups, but patients had higher stimulated renin concentrations than controls (P = 0.0044).

Interpretation
Patients with non-classic 21-hydroxylase deficiency frequently display partial cortisol insufficiency and compensated defect in aldosterone secretion. Their clinical management should systematically include assessment of adrenal functions.
Sitagliptin Decreases Visceral Fat and Blood Glucose in Women With Polycystic Ovarian Syndrome
Authors: Devin Jessica K , Nian Hui , Celedonio Jorge E , Wright Patricia , Brown Nancy J 
Published: September 2019

Abstract

Context
Women with polycystic ovarian syndrome (PCOS) have decreased growth hormone (GH), which can result in increased visceral adiposity (VAT) and impaired vascular function. GH-releasing hormone, a dipeptidyl peptidase-4 (DPP4) substrate, stimulates GH secretion.

Objective
We tested the hypothesis that DPP4 inhibition increases GH and improves glucose levels and vascular function in women with PCOS.

Methods
Eighteen women with PCOS participated in a double-blind, crossover study. They received sitagliptin either 100 mg or placebo daily for 1 month, with crossover treatments separated by an 8-week washout. During each treatment, women underwent a 75-gram oral glucose tolerance test (OGTT) and assessments of vascular function and body composition. Overnight GH secretion was assessed via venous sampling every 10 minutes for 12 hours and analyzed using an automated deconvolution algorithm.

Results
During OGTT, sitagliptin increased glucagon-like peptide-1 (P &lt; 0.001), early insulin secretion (from mean [± SD] insulinogenic index 1.9 ± 1.2 to 3.2 ± 3.1; P = 0.02), and decreased peak glucose (mean −17.2 mg/dL [95% CI, −27.7 to −6.6]; P &lt; 0.01). At 1 month, sitagliptin decreased VAT (from 1141.9 ± 700.7 to 1055.1 ± 710.1 g; P = 0.02) but did not affect vascular function. Sitagliptin increased GH half-life (from 13.9 ± 3.6 to 17.0 ± 6.8 min, N = 16; P = 0.04) and interpulse interval (from 53.2 ± 20.0 to 77.3 ± 38.2 min, N = 16; P &lt; 0.05) but did not increase mean overnight GH (P = 0.92 vs placebo).

Conclusions
Sitagliptin decreased the maximal glucose response to OGTT and VAT. Sitagliptin did not increase overnight GH but increased GH half-life and the interpulse interval.

Clinical Trial Registration
This study was registered at www.clinicaltrials.gov as NCT02122380 prior to enrollment of the first participant.
Association between Body Mass Index and Stroke Risk Among Patients with Type 2 Diabetes
Authors: Shen Yun , Shi Lizheng , Nauman Elizabeth , Katzmarzyk Peter T , Price-Haywood Eboni G , Bazzano Alessandra N , Nigam Somesh , Hu Gang 
Published: September 2019

Abstract

Context
Very few studies focused on the association between body mass index (BMI) and stroke risk among patients with diabetes.

Objective
We aimed to investigate the association between BMI and stroke risk in patients with type 2 diabetes.

Design
Demographic, anthropometric, laboratory, and medication information were extracted from the National Patient-Centered Clinical Research Network common data model.

Participants
We performed a retrospective cohort study of 67 086 patients with type 2 diabetes.

Main Outcome Measures
Incident stroke including both ischemic and hemorrhagic stroke were defined.

Results
During a mean follow up of 3.74 years. 8918 incident stroke events occurred. Multivariable-adjusted hazard ratios across different categories of BMI at baseline (18.5–24.9 [reference group], 25.0–29.9, 30.0–34.9, 35.0–39.9, and ≥40 kg/m2) were 1.00, 0.92, 0.85, 0.74, and 0.63 (Ptrend &lt;0.001) for total stroke; 1.00, 0.93, 0.88, 0.77, and 0.65 (Ptrend &lt;0.001) for ischemic stroke; and 1.00, 0.79, 0.50, 0.50, and 0.41 (Ptrend &lt;0.001) for hemorrhagic stroke, respectively. When we used an updated mean value of BMI, the graded inverse association of body mass index with stroke risk did not change. This linear association was consistent among patients of different subgroups. Further sensitivity analysis excluding patients who were diagnosed stroke within 6 months after first diagnosis of type 2 diabetes or including non-smokers only also confirmed our findings.

Conclusion
The present study found an inverse association between BMI and the risk of total, ischemic, and hemorrhagic stroke among patients with type 2 diabetes. More clinical and molecular insights are still needed in explaining these findings.
Função de controle externo e função administrativa: separação e colaboração na Constituição de 1988
Authors: Heller Gabriel , Sousa Guilherme Carvalho e 
Published: September 2019

The function of external oversight and the administrative function: separation and cooperation in the 1988 Constitution O presente artigo versa sobre a autonomia e especificidade da função de controle externo na Constituição de 1988, que resulta na impossibilidade de se classificar como administrativos os Tribunais de Contas, as competências que lhes foram cometidas e os processos que as instrumentalizam. Para tanto, a partir da diferenciação das funções estatais pelas finalidades específicas que lhes são subjacentes, demonstra-se a insuficiência do dogma da tripartição de poderes para explicar o policentrismo institucional traçado pelo constituinte. Distinguindo-se os meios empregados e os fins visados no exercício das funções de controle externo e de administração, e apresentando-se o dever de cooperação interorgânica estabelecido como parte do mecanismo de checks and balances da Carta Fundamental, evidencia-se a inconfundibilidade entre as duas funções. This paper regards the autonomy and specificity of the function of external control in the Constitution of 1988, which results in the impossibility of classifying the Court of Auditors as administrative, as well as its jurisdiction and processes. In order to provide necessary evidence for this approach, it considers the differentiation of state functions based on their specific aims, and demonstrates the insufficiency of the traditional separation of powers to explain the institutional polycentrism devised by the constitution makers. By distinguishing the means employed and the purposes envisaged in the exercise of the functions of external control and administration, and presenting the duty of inter-organic cooperation established as part of the constitutional checks and balances, it reaches the conclusion that those functions cannot be confounded nor mixed.
A.3. The "dioceses" of Hispania citerior in the High Empire. A historiographic invention
Authors: Ozcáriz Gil Pablo 
Published: September 2019

This article presents the historiographic evolution of the "dioceses" of Hispania citerior in the High Roman Empire. From their creation by Mommsen to their total disappearance in the 1980s, they are mentioned very often in the bibliography of the Roman administration of that province. This is the first time that the development of this historiographic construction is presented.
Sofrimento psíquico e a universidade em tempos de crise estrutural
Authors: Leão Thiago Marques , Ianni Aurea Maria Zöllner , Goto Carine Sayuri 
Published: September 2019

O artigo discute o impacto subjetivo das transformações sociais contemporâneas, pelo fenômeno do sofrimento psíquico na universidade. A sociedade contemporânea é marcada pelos processos de individualização e subjetivação dos riscos socialmente produzidos, conforme as instituições típicas da sociedade industrial se mostram incapazes de lidar com os riscos que produzem. Tendo em vista a perda de referências de significação social e de instituições mediadoras das relações entre o indivíduo e a sociedade, há um crescente sentimento de insegurança e sofrimento. As contradições e impasses socialmente produzidos são percebidos como fracasso pessoal, e é por esta perspectiva que se tentará lidar com o sofrimento psíquico também na universidade, seja pelo viés clínico institucional ou transformando o sofrimento em um objeto de gestão empresarial nas universidades operacionais. Para lidar com o sofrimento entre estudantes é preciso pensá-lo para além de sua dimensão individual e compreender os processos sociais de gênese e significação da experiência de sofrimento. Palavras-Chave: sofrimento psíquico; individualização; universidade; sociedade de risco; contrarreformas.
El botín de los vencedores. La doble paradoja de la educación superior “pública” y el Trabajo Social Chileno
Authors: Matus Teresa , Orellana Víctor , Urquieta María Antonieta 
Published: September 2019

El artículo desarrolla la siguiente premisa: para hablar de educación superior “pública” en Chile es preciso usar comillas. El desmonte de lo público practicado en Dictadura (años ’80) y su prolijo perfeccionamiento en los gobiernos civiles (‘90s hasta el presente), configuran un escenario donde lo que se instala es, más bien, un lucrativo modelo de negocios en reemplazo de un proyecto de educación superior pública para el país. Al colocar como filtro para comprender lo “público” tres requisitos: financiamiento estatal y gratuidad para un porcentaje de estudiantes, procesos democráticos para elecciones internas y propiedad legal pública; la cantidad de “universidades públicas” se reduce drásticamente, conduciendo a un cuadro paradojal. En ese contexto, la formación universitaria del Trabajo Social chileno, expresa una doble contradicción, ya que adicionalmente al contexto de mercantilización de la educación superior, se le suma una distribución asimétrica de cuerpos académicos con nivel de doctorado e investigaciones, la presencia aún mayoritaria de formaciones disciplinarias tradicionales, la existencia de dicotomías clásicas en las propuestas curriculares y también la emergencia minoritaria y consistente de innovaciones y enfoques pluralmente críticos en la formación, tanto en universidades públicas como privadas. Lo anterior no permite sacar conclusiones fáciles o directamente proporcionales en términos de la correspondencia de la crisis de la educación y las respuestas acerca del actual estado de la formación en el Trabajo Social chileno. Palabras claves: Educación Superior, Política Pública, Trabajo Social.
Autonomia feminina e concepções de direito entre mulheres beneficiárias do Programa Bolsa Família
Authors: Mariano Silvana , De Souza Márcio Ferreira 
Published: September 2019

O presente artigo trata do tema da autonomia feminina e objetiva compreender a percepção de mulheres beneficiárias do Programa Bolsa Família em torno das concepções políticas como direito e cidadania. Para tanto, inferimos o modo como elas interpretam a relação com o Estado, o acesso às políticas públicas e o seu agenciamento nesse processo. Buscamos captar e dimensionar a autonomia dessas mulheres para a tomada de decisões no espaço doméstico e em aspectos relativos à individualização feminina, tanto no contexto das relações familiares como das relações sociais mais amplas. As análises foram calcadas em estudos de caso realizados em Curitiba (Paraná) e Fortaleza (Ceará), no ano de 2013, por meio de uma amostragem constituída por cento e noventa entrevistas, sendo noventa e cinco em cada cidade. Palavras-Chave: autonomia feminina; cidadania; espaço doméstico; Programa Bolsa Família.
A crise do capital e relações de trabalho: considerações sobre “consultorias sociais” em empresas
Authors: Gomes Márcia Regina Botão 
Published: September 2019

Neste artigo, abordaremos especificamente as chamadas “consultorias” especializadas em programas de assistência ao empregado (PAE), que consistem em formas de terceirização e quarteirização do trabalho do assistente social, como expressão dos processos de precarização do trabalho de assistentes sociais em empresas. Trata-se de resultados parciais de nossa pesquisa de doutorado (2015), realizada na Universidade do Estado do Rio de Janeiro, que teve como método de coleta de dados qualitativos entrevistas semiestruturadas e pesquisas bibliográficas de orientação marxista. Palavras-Chave: crise do capital; Serviço Social; consultoria empresarial.
Modelo de ajuste nos governos petistas em meio à ideologia da conciliação de classes: chão histórico do Golpe de 2016 no Brasil Contemporâneo
Authors: De Carvalho Alba Maria Pinho , Rodrigues Júnior Natan Dos Santos 
Published: September 2019

Nesta produção acadêmica, o foco analítico incide no modelo de ajuste encarnado nos governos petistas, enfatizando a ideologia da conciliação de classes como sustentáculo desta versão do modelo rentista-neoextrativista, no período em que o PT ocupou a presidência da República. Enfocamos, de modo especial, o momento de hibridização das políticas de ajuste com o chamado neodesenvolvimentismo, resgatando polêmicas ideológicas que demarcam esta perspectiva do neodesenvolvimento no século XXI. Para circunscrever este período da contemporaneidade brasileira, efetivamos um recuo histórico, contemplando os percursos do ajuste do Brasil ao capitalismo financeirizado, em seus diferentes ciclos. Sustentamos a tese de um esgotamento da versão petista desse modelo de ajuste com a debacle desta ideologia da conciliação de classes, a marcar o cenário de meados da segunda década do século XXI, a partir da ofensiva das próprias elites, deflagrando, assim, a crise brasileira contemporânea, chão histórico do Golpe de 2016. Palavras-Chave: Ideologia da conciliação de classes; ajuste brasileiro; governos petistas; neodesenvolvimentismo; golpe de 2016.
Developmental dysplasia of the hip: update of management
Authors: Vaquero-Picado Alfonso , González-Morán Gaspar , Garay Enrique Gil , Moraleda Luis 
Published: September 2019

The term ‘developmental dysplasia of the hip’ (DDH) includes a wide spectrum of hip alterations: neonatal instability; acetabular dysplasia; hip subluxation; and true dislocation of the hip. DDH alters hip biomechanics, overloading the articular cartilage and leading to early osteoarthritis. DDH is the main cause of total hip replacement in young people (about 21% to 29%). Development of the acetabular cavity is determined by the presence of a concentrically reduced femoral head. Hip subluxation or dislocation in a child will cause an inadequate development of the acetabulum during the remaining growth. Clinical screening (instability manoeuvres) should be done universally as a part of the physical examination of the newborn. After two or three months of life, limited hip abduction is the most important clinical sign. Selective ultrasound screening should be performed in any child with abnormal physical examination or in those with high-risk factors (breech presentation and positive family history). Universal ultrasound screening has not demonstrated its utility in diminishing the incidence of late dysplasia. Almost 90% of patients with mild hip instability at birth are resolved spontaneously within the first eight weeks and 96% of pathologic changes observed in echography are resolved spontaneously within the first six weeks of life. However, an Ortolani-positive hip requires immediate treatment. When the hip is dislocated or subluxated, a concentric and stable reduction without forceful abduction needs to be obtained by closed or open means. Pavlik harness is usually the first line of treatment under the age of six months. Hip arthrogram is useful for guiding the decision of performing a closed or open reduction when needed. Acetabular dysplasia improves in the majority due to the stimulus provoked by hip reduction. The best parameter to predict persistent acetabular dysplasia at maturity is the evolution of the acetabular index. Pelvic or femoral osteotomies should be performed when residual acetabular dysplasia is present or in older children when a spontaneous correction after hip reduction is not expected. Avascular necrosis is the most serious complication and is related to: an excessive abduction of the hip; a force closed reduction when obstacles for reduction are present; a maintained dislocated hip within the harness or spica cast; and a surgical open reduction. Cite this article: EFORT Open Rev 2019;4:548-556. DOI: 10.1302/2058-5241.4.180019
IMPACT OF THERAPY ON HEALTH-RELATED QUALITY OF LIFE IN PATIENTS WITH SYSTEMIC LUPUS ERYTHEMATOSUS (ACCORDING TO THE RENAISSANCE REGISTER)
Authors: Vorobyeva L. D. , Aseeva E. A. , Solovyev S. K. , Koilubaeva G. M. , Glukhova S. I. 
Published: September 2019

Objective: to assess changes in health-related quality of life (HRQoL) in patients with systemic lupus erythematosus (SLE) during performed therapy.Subjects and methods. The investigation included 128 patients with reliable SLE who fulfilled the 2012 SLICC criteria. Sixty-eight patients received standard therapy; 60 used biological agents (BA). During the first visit and at 12 months, all the patients were assessed for disease activity using by SLEDAI-2K and for organ damage employing the SLICC damage index (DI). HRQoL was assessed by the LupusQoL questionnaire that was filled out by the patients independently.Results and discussion. At Visit 1, the disease activity index averaged 8.0±7.3 in the standard therapy group and 15.4±7.6 in the BA group (p≤0.001); DI was 1.2±0.9 and 1.8±1.8, respectively (p=0.008). BA-treated patients had significantly lower HRQoL scores on all questionnaire scales, except «dependence on others» and «emotional health» ones Both the standard therapy and BA groups showed significantly lower disease activity during Visit 2 at 12 months. HRQoL assessment revealed significant improvements in the scales «pain», «planning», «intimate relationships», «emotional health», «body image», and «fatigue» in the BA group. The standard therapy group had a statistically significant improvement in the scale «dependence on others». All the other scales of the questionnaire displayed a positive change in HRQoL; however, it did not reach statistical significance.