bluuebunny/crossref_metadata_2025_split huggingface dataset:
Patients’ Medical and Psychosocial Experiences After Detection of a CDH1 Variant With Multigene Panel Testing
Authors: Hamilton Jada G. , Long Jessica M. , Brandt Amanda C. , Brower Jamie , Symecko Heather , Salo-Mullen Erin E. , Christian Stephanie N. , Harstad Tricia , Couch Fergus J. , Garber Judy E. , Offit Kenneth , Robson Mark E. , Domchek Susan M. 
Published: March 2019

PURPOSE Germline CDH1 pathogenic variants (PV) are associated with hereditary diffuse gastric cancer and lobular breast cancer. Although prevalence of CDH1 PV is low in the general population, detection of these variants is increasing with the growing use of multigene panel testing. Little is known about the experiences of individuals tested for CDH1 variants in the multigene panel testing era. METHODS Participants recruited from the Prospective Registry of Multiplex Testing completed a cross-sectional self-report survey regarding CDH1 genetic testing experiences, medical management, and psychosocial adaptation. RESULTS Discordance existed in interpretations of CDH1 results; 13.3% of cases had disagreements in variant classifications among commercial laboratories, and 21.4% had disagreements between participant self-report and ClinVar classification. Survey data were available from 57 individuals reporting either PV (n = 16) or variants of uncertain significance (VUS; n = 41). Those with PV were more likely than those with VUS to report receiving a recommendation for prophylactic gastrectomy, although only 40.0% of those with PV received this recommendation. Participants with VUS were less satisfied with their health care providers’ knowledge and reported less CDH1 knowledge, distress, and worry about discrimination. Participants with PV perceived greater breast cancer risks, but similar gastric cancer risks, as those with VUS. CONCLUSION Few individuals with CDH1 PV report receiving recommendations for prophylactic gastrectomy, and no differences in perceived gastric cancer risk were observed based on participants’ CDH1 results, suggesting serious unmet informational needs.
The Liver–α-Cell Axis and Type 2 Diabetes
Authors: Wewer Albrechtsen Nicolai J , Pedersen Jens , Galsgaard Katrine D , Winther-Sørensen Marie , Suppli Malte P , Janah Lina , Gromada Jesper , Vilstrup Hendrik , Knop Filip K , Holst Jens J 
Published: March 2019

AbstractBoth type 2 diabetes (T2D) and nonalcoholic fatty liver disease (NAFLD) strongly associate with increasing body mass index, and together these metabolic diseases affect millions of individuals. In patients with T2D, increased secretion of glucagon (hyperglucagonemia) contributes to diabetic hyperglycemia as proven by the significant lowering of fasting plasma glucose levels following glucagon receptor antagonist administration. Emerging data now indicate that the elevated plasma concentrations of glucagon may also be associated with hepatic steatosis and not necessarily with the presence or absence of T2D. Thus, fatty liver disease, most often secondary to overeating, may result in impaired amino acid turnover, leading to increased plasma concentrations of certain glucagonotropic amino acids (e.g., alanine). This, in turn, causes increased glucagon secretion that may help to restore amino acid turnover and ureagenesis, but it may eventually also lead to increased hepatic glucose production, a hallmark of T2D. Early experimental findings support the hypothesis that hepatic steatosis impairs glucagon’s actions on amino acid turnover and ureagenesis. Hepatic steatosis also impairs hepatic insulin sensitivity and clearance that, together with hyperglycemia and hyperaminoacidemia, lead to peripheral hyperinsulinemia; systemic hyperinsulinemia may itself contribute to worsen peripheral insulin resistance. Additionally, obesity is accompanied by an impaired incretin effect, causing meal-related glucose intolerance. Lipid-induced impairment of hepatic sensitivity, not only to insulin but potentially also to glucagon, resulting in both hyperinsulinemia and hyperglucagonemia, may therefore contribute to the development of T2D at least in a subset of individuals with NAFLD.
Electroencephalography in Epilepsy Evaluation
Authors: Chen Hai , Koubeissi Mohamad Z. 
Published: March 2019

ABSTRACT

PURPOSE OF REVIEW
Epilepsy is a heterogeneous disorder that is often associated with abnormal electroencephalogram (EEG) findings. This article provides an overview of common EEG findings in epileptic disorders. The physiologic basis of EEG and intracranial EEG studies is also discussed.

RECENT FINDINGS
EEG is widely used in clinical practice. Because of the paroxysmal nature of seizure disorders, interictal epileptiform discharges, such as spikes and sharp waves, are often used to support the diagnosis of epilepsy when a habitual seizure is not captured by EEG. Interictal and ictal EEG findings also underlie the classification of seizures and epilepsy. Continuous critical care EEG monitoring has become an invaluable study in the diagnosis and treatment of subclinical seizures and nonconvulsive status epilepticus. Intracranial EEG with subdural or intraparenchymal electrodes is warranted when localization of the seizure focus and mapping of eloquent brain areas are required to plan epilepsy surgery.

SUMMARY
The EEG is a key tool in the diagnosis of epilepsy. Interictal and ictal EEG findings are crucial for the confirmation and classification of seizure disorders. Intracranial EEG monitoring is also indispensable for planning surgery for some patients.
Epilepsy Overview and Revised Classification of Seizures and Epilepsies
Authors: Pack Alison M. 
Published: March 2019

ABSTRACTPURPOSE OF REVIEWThe classification of seizures, epilepsies, and epilepsy syndromes creates a framework for clinicians, researchers, and patients and their families. This classification has evolved over the years, and in 2017 the International League Against Epilepsy (ILAE) published an operational classification of seizures and epilepsies. Understanding this classification is important in the diagnosis, treatment, and understanding of seizures and epilepsies, including epilepsy incidence.RECENT FINDINGSThe 2017 ILAE classification system builds on newly formulated definitions of seizures and epilepsy. Seizure classification begins by determining whether the initial manifestations of the seizure are focal or generalized. If the onset of the seizure is missed or unclear, the seizure is of unknown onset. Focal seizures are classified according to the individual’s level of awareness, the most prominent motor or nonmotor features of the seizure, and whether the focal seizure evolves to a bilateral tonic-clonic seizure. Similarly, generalized seizures are classified according to motor or nonmotor manifestations. Motor seizures are either tonic-clonic or other motor seizures. Nonmotor generalized seizures primarily refer to absence seizures. Similar to seizure classification, the epilepsies can be classified as focal or generalized. In addition, the new classification system recognizes two new categories: combined generalized and focal epilepsy and unknown epilepsy. The concept of an epilepsy syndrome has been introduced under the new classification system and refers to a cluster of features incorporating seizure types, EEG, imaging, and other features including genetics. The new classification system emphasizes the etiology of seizures and epilepsies.SUMMARYThe recent ILAE seizure and epilepsy classification system aims to create a framework to better classify seizures and the epilepsies. Universal adoption and implementation of this system will enable patients, their families, clinicians, and researchers to better define and treat the epilepsies. Incidence studies have not generally classified seizures and the epilepsies, and use of this classification system, which emphasizes etiology, will lead to a better understanding of epilepsy incidence.
Identification and Treatment of Drug-Resistant Epilepsy
Authors: Yoo Ji Yeoun , Panov Fedor 
Published: March 2019

ABSTRACTPURPOSE OF REVIEWDrug-resistant epilepsy is a potentially life-threatening condition affecting one-third of people living with epilepsy. Despite existing evidence of improved outcomes in patients who received surgical treatment compared to continued medical treatment, epilepsy surgery remains underused in patients with drug-resistant epilepsy. This article discusses the gap between evidence and practice and common misconceptions about epilepsy surgery and reviews the current diagnostic and therapeutic surgical options.RECENT FINDINGSThree randomized controlled trials comparing the medical versus surgical treatment for patients with drug-resistant epilepsy have shown the superiority of surgery in controlling seizures and improving patients’ quality of life. In addition to resective surgery, neuromodulation through devices such as responsive neurostimulation and vagal nerve stimulation have also shown efficacy in seizure control that increases over time. Diagnostic and therapeutic surgical tools are tailored to the needs of each patient.SUMMARYAppropriate patients with drug-resistant epilepsy benefit more from epilepsy surgery than from continuing medical treatment. These patients should be referred to comprehensive epilepsy centers where a thorough presurgical workup and surgical options can be provided. The gap between evidence and practice can be bridged by education, community outreach, and providers’ earnest efforts to improve the quality of life of patients with epilepsy.
Impact of Eccentric or Concentric Training on Body Composition and Energy Expenditure
Authors: TOURON JULIANNE , PERRAULT HÉLÈNE , JULIAN VALÉRIE , MAISONNAVE LAURA , DEAT PHILIPPE , AUCLAIR-RONZAUD JULIETTE , SALLES JÉRÔME , WALRAND STÉPHANE , HERMET JULIEN , RIGAUDIERE JEAN-PAUL , LEBECQUE PATRICE , MALPUECH-BRUGERE CORINNE , MONTAURIER CHRISTOPHE , PEREIRA BRUNO , COXAM VÉRONIQUE , COSTES FRÉDÉRIC , RICHARD RUDDY 
Published: March 2019

ABSTRACT

Purpose
To compare the effects of 8-wk eccentric (ECC) versus concentric (CON) training using downhill and uphill running in rats on whole body composition, bone mineral density (BMD), and energy expenditure.

Methods
Animals were randomly assigned to one of the following groups: 1) control (CTRL), 2) +15% uphill-running slope (CON), 3) −15% downhill-running slope (ECC15), and 4) −30% downhill-running slope (ECC30). Those programs enabled to achieve conditions of isopower output for CON and ECC15 and of iso-oxygen uptake (V˙O2) for CON and ECC30. Trained rats ran 45 min at 15 m·min−1 five times per week. Total body mass, fat body mass, and lean body mass (LBM) measured through EchoMRI™, and 24-h energy expenditure including basal metabolic rate (BMR) assessed using PhenoMaster/LabMaster™ cage system were obtained before and after training. At sacrifice, the right femur was collected for bone parameters analysis.

Results
Although total body mass increased in all groups over the 8-wk period, almost no change occurred for fat body mass in exercised groups (CON, −4.8 ± 6.18 g; ECC15, 0.6 ± 3.32 g; ECC30, 2.6 ± 6.01 g). The gain in LBM was mainly seen for ECC15 (88.9 ± 6.85 g) and ECC30 (101.6 ± 11.07 g). ECC was also seen to positively affect BMD. An increase in BMR from baseline was seen in exercise groups (CON, 13.9 ± 4.13 kJ·d−1; ECC15, 11.6 ± 5.10 kJ·d−1; ECC30, 18.3 ± 4.33 kJ·d−1) but not in CTRL one. This difference disappeared when BMR was normalized for LBM.

Conclusions
Results indicate that for iso-V˙O2 training, the impact on LBM and BMD is enhanced with ECC as compared with CON, and that for isopower but lower V˙O2 ECC, an important stimulus for adaptation is still observed. This provides further insights for the use of ECC in populations with cardiorespiratory exercise limitations.
Características obstétricas das gestantes submetidas à cesariana segundo a classificação de Robson
Authors: Abreu Liendne Penha , Lira Filho Rivaldo , Santana Roseane Lustosa de 
Published: March 2019

Objetivo: Descrever as características obstétricas das gestantes submetidas à cesariana segundo a Classificação de Robson em um Hospital Universitário. Métodos: Pesquisa de campo, descritiva, retrospectiva, com abordagem quantitativa, com dados secundários de 294 prontuários de gestantes submetidas à cesariana no Hospital Universitário da Universidade Federal do Maranhão, no período de janeiro a dezembro de 2015. Resultados: Analisados 294 prontuários; predominância de nulíparas (51%), submetidas à cesárea antes do início do trabalho de parto (57%), com gestação à termo (38%), com feto único (96%), em apresentação cefálica (91%). O grupo da Classificação de Robson com maior prevalência de cesarianas foi o grupo 5 (28,23%). Conclusão: o hospital apresenta uma alta taxa de cesariana, totalizando 49,3%, mesmo se tratando de um estudo realizado em uma maternidade referência para gestantes de alto risco. A pesquisa permitiu conhecer o perfil sociodemográfico e as características obstétricas das usuárias, dados importantes para o planejamento da assistência.
Childsmile after 10 years part 2: programme development, implementation and evaluation
Authors: Macpherson Lorna MD , Rodgers Jennifer , Conway David I 
Published: March 2019

Childsmile is the national child oral health improvement programme for Scotland. It was developed as pilot studies from 2006/7, building on an established national supervised toothbrushing programme in nursery schools. By 2011, an integrated programme was in place in all NHS Boards across the country. The importance of a multi-agency, common risk factor approach is acknowledged and the programme continues to evolve through learning from the embedded process evaluation. The development and implementation of Childsmile has been associated with major improvements in child oral health. However, clear health inequalities remain and the future focus of the programme will aim to reduce further the social gradient of child oral health in Scotland. CPD/Clinical Relevance: This paper describes the development, implementation and evaluation of Childsmile, utilizing the theories and approaches outlined in Part 1.
The Influence of Residence Type on Personal Outcomes
Authors: Friedman Carli 
Published: March 2019

Abstract
Over the last 5 decades, the state institution census has decreased 85% in the United States. Despite these radical shifts away from institutionalization, people with intellectual and developmental disabilities (IDD) continue to struggle to be meaningfully included in the community. For these reasons, the aim of this study was to explore if and how residence type affects attainment of quality of life outcomes of people with IDD in the United States. To do so, we analyzed Personal Outcome Measures® interviews from approximately 1,350 people with IDD. Findings suggest much of what has historically been considered deinstitutionalization of people with IDD is transinstitutionalization, particularly with provider-owned or -operated settings. A systemic overhaul is needed to create an effective community infrastructure.
Iron Metabolism, Hepcidin, and Mortality (the Ludwigshafen Risk and Cardiovascular Health Study)
Authors: Grammer Tanja B , Scharnagl Hubert , Dressel Alexander , Kleber Marcus E , Silbernagel Günther , Pilz Stefan , Tomaschitz Andreas , Koenig Wolfgang , Mueller-Myhsok Bertram , März Winfried , Strnad Pavel 
Published: March 2019

AbstractBACKGROUNDAnemia has been shown to be a risk factor for coronary artery disease (CAD) and mortality, whereas the role of iron metabolism remains controversial.METHODSWe analyzed iron metabolism and its associations with cardiovascular death and total mortality in patients undergoing coronary angiography with a median follow-up of 9.9 years. Hemoglobin and iron status were determined in 1480 patients with stable CAD and in 682 individuals in whom significant CAD had been excluded by angiography.RESULTSMultivariate-adjusted hazard ratios (HRs) for total mortality in the lowest quartiles of iron, transferrin saturation, ferritin, soluble transferrin receptor (sTfR), and hemoglobin were 1.22 (95% CI, 0.96–1.60), 1.23 (95% CI, 0.97–1.56), 1.27 (95% CI, 1.02–1.58), 1.26 (95% CI, 0.97–1.65), and 0.99 (95% CI, 0.79–1.24), respectively, compared to the second or third quartile, which served as reference (1.00) because of a J-shaped association. The corresponding HRs for total mortality in the highest quartiles were 1.44 (95% CI, 1.10–1.87), 1.37 (95% CI, 1.05–1.77), 1.17 (95% CI, 0.92–1.50), 1.76 (95% CI, 1.39–2.22), and 0.83 (95% CI, 0.63–1.09). HRs for cardiovascular death were similar. For hepcidin, the adjusted HRs for total mortality and cardiovascular deaths were 0.62 (95% CI, 0.49–0.78) and 0.70 (95% CI, 0.52–0.90) in the highest quartile compared to the lowest one.CONCLUSIONSIn stable patients undergoing angiography, serum iron, transferrin saturation, sTfR, and ferritin had J-shaped associations and hemoglobin only a marginal association with cardiovascular and total mortality. Hepcidin was continuously and inversely related to mortality.
Reviews
Authors: Johnson Rachel , Syrimis Michael , Faggella Chiara , Benecchi Eleonora , Masini Leonora 
Published: March 2019

Italian Pop Culture: Media, Products, Imageries, Fabio Corsini (ed.) (2018) Rome: Viella Libreria editrice, 192 pp., ISBN: 9788867289394, p/bk, €25.00
Reframing Luchino Visconti: Film and Art, Ivo Blom (2017) Leiden: Sidestone Press, 314 pp., ISBN 9789088905483, p/bk, €39.95
Film, Fashion, and the 1960s, Eugenia Paulicelli, Drake Stutesman and Louise Wallenberg (eds) (2017) Bloomington: Indiana University Press, 231 pp., ISBN: 9780253026101, p/bk, $35.00
Mazinga Nostalgia: Storia, valori e linguaggi della Goldrake-generation dal 1978 al nuovo secolo, Marco Pellitteri (2018), 4th ed. Latina: Tunué, 2 vols, 1580 pp., ISBN 9788867902996, h/bk, €59.80
Lo schermo e lo spettro: sguardi postcoloniali su Africa e afrodiscendenti, Leonardo De Franceschi (2017) Milano and Udine: Mimesis Edizioni, 310 pp., ISBN 9788857541945, €26.00
UMA CENA POUCO “MALUQUINHA”: apontamentos sobre relações de gênero e sexualidade
Authors: Friederichs Marta , Soares Rosângela 
Published: March 2019

Este texto, ao tomar como ponto de apoio uma cena de um audiovisual, promove um exercício de pensamento sobre temas como violência e diversidade de gênero e sexualidade no cotidiano da educação básica. Mesmo que esses temas não sejam recentes, são ainda relevantes e necessários de serem pensados e discutidos na (e com a) escola. Para tanto, a partir da Análise Cultural, pontuamos que em um tempo de profundas mudanças sociais, culturais e estéticas não é possível discutir educação, violência e diversidade sem problematizar tais mudanças e os impactos disso nos sujeitos sociais. Permanece a questão: o que tem impedido que as discussões sobre gênero e sexualidade se efetivem no contexto escolar?
MAIS EDUCADAS DO QUE INSTRUÍDAS: RECORTES SOBRE A ESCOLARIZAÇÃO FEMININA
Authors: De Vargas Juliana Ribeiro 
Published: March 2019

Analiso, neste estudo, discursos circulantes nos processos de escolarização da população feminina encaminharam um modo específico para que meninas e jovens constituíssem determinados comportamentos entendidos como adequados para “o ser mulher”. Como referencial teórico, valho-me dos Estudos Culturais em Educação, dos Estudos de Gênero. Como ferramenta metodológica, articulo pressupostos da análise do discurso, a partir de Foucault. Desta forma, apresento inicialmente, considerações acerca da constituição de um ideário de feminilidade, problematizando-o através das perspectivas teóricas elencadas. Posteriormente, destaco discursos e enunciados sobre a feminilidade constituídos sobre a análise dos processos de escolarização feminina retomando práticas iniciadas no Brasil Colônia e reiteradas até do século XX no contexto brasileiro. Por fim, encerro este estudo com a certeza de que outros discursos aceca das feminilidades poderiam ser problematizados na procura de visibilidade para dimensões sobre o tema.
Angiotensin II Type 1 Receptor rs5186 Gene Variant Predicts Incident NAFLD and Associated Hypertension: Role of Dietary Fat-Induced Pro-Inflammatory Cell Activation
Authors: Musso Giovanni , Saba Francesca , Cassader Maurizio , Paschetta Elena , De Michieli Franco , Pinach Silvia , Framarin Luciana , Berrutti Mara , Leone Nicola , Parente Renato , Ayoubi Khajekini Mohammad Taghi , Zarovska Adriana , Gambino Roberto 
Published: March 2019

OBJECTIVES:
Hypertension has been linked to the presence and severity of nonalcoholic fatty liver disease (NAFLD) through unclear mechanisms. The gain-of-function rs5186 A1166C variant in angtiotensin receptor type 1 (AGTR1) gene has been linked to hypertension, cardiovascular disease and metabolic syndrome. We assessed the impact of AGTR1 A1166C variant on NAFLD incidence and severity and on glucose and lipid metabolism and explored the underlying mechanisms.

METHODS:
We followed up 314 healthy nonobese, nondiabetic, nonhypertensive, insulin-sensitive participants in a population-based study, characterized for AGTR1 rs5186 A1166C variant, adipokine profile, inflammatory and endothelial dysfunction markers. An independent cohort of 78 biopsy-proven nondiabetic NAFLD patients and controls underwent an oral glucose tolerance test with Minimal Model analysis of glucose homeostasis, and an oral fat tolerance test with measurement of plasma lipoproteins, adipokines, MCP-1, calprotectin, and nuclear factor-κB activation in circulating mononuclear cells.

RESULTS:
AGTR1 A1166C polymorphism predicted 9.8-year incident NAFLD (odds ratio: 1.67, 95% CI: 1.26–2.21) and hypertension (odds ratio: 1.49, 95% CI: 1.12–2.63) and 9-year increase in cardiovascular disease risk and endothelial dysfunction markers. In the cross-sectional cohort, AGTR1 C allele carriers had higher insulin resistance. Despite comparable fasting lipid profiles, AGTR1 C allele carriers showed postprandial triglyceride-rich and cholesterol-rich VLDL lipoprotein accumulation, higher resistin, MCP-1 and calprotectin responses and nuclear factor-κB activation in mononuclear cells, and a blunted postprandial adiponectin response to fat, which predicted liver histology, hepatocyte apoptosis activation, insulin resistance, and endothelial dysfunction.

DISCUSSION:
AGTR1 A1166C variant affects liver disease, insulin resistance, and endothelial dysfunction in NAFLD, at least in part by modulating adipokine, chemokine, and pro-inflammatory cell activation in response to fat ingestion.