bluuebunny/crossref_metadata_2025_split huggingface dataset:
Antiphospholipid syndrome: a case report with an unusual wide spectrum of clinical manifestations
Authors: Mazzoccoli Carmela , Comitangelo Domenico , D’Introno Alessia , Mastropierro Valeria , Sabbà Carlo , Perrone Antonio 
Published: October 2019

Abstract

Background
Antiphospholipid syndrome (APS) is an autoimmune disease characterized by the occurrence of venous and/or arterial thrombosis, and the detection of circulating antiphospholipid antibodies. The classification criteria for definite APS are actually met when at least one clinical criterion (thrombosis or pregnancy morbidity) is present in association of one laboratory criterion (LAC, aCL antibody or aβ2GPI antibody present on two or more occasions, at least 12 weeks a part), and thrombosis should be confirmed by objective validated criteria. The average age of primary APS patients has been reported to be about 35–40 years and the disease is more common in women than in men.

Case presentation
In this report, we described a rare case of an adult male who presented over a period of 9 years with a wide spectrum of clinical manifestations involving different organs that were not initially diagnosed as APS. Dizziness and syncope were his first clinical symptoms, and a non-bacterial thrombotic endocarditis (NBTE) involving the mitral valve was at first diagnosed. Subsequently, the patient also presented with generalized seizures and subsequent head injury. When the patient was admitted to our clinic with bilateral epistaxis and fever, thrombocytopenia was revealed. Moreover, laboratory examinations showed acute pancreatitis with an increase of levels of inflammation markers.

Conclusion
Based on the patient’s medical history and all the examination results, it was possible to make a diagnosis of primary APS and, starting from diagnosis of thrombocytopenia, we were allowed to conclude that all of manifestation were epi-phenomena of a unique clinical entity, rather than unrelated diseases. Though APS is one of the most common thrombocytophilias, unfortunately, it is not recognized often enough. The lack of prevention in undiagnosed patients may cause severe complications which can in turn result in the death of those patients.
Smart literature review: a practical topic modelling approach to exploratory literature review
Authors: Asmussen Claus Boye , Møller Charles 
Published: October 2019

Abstract
Manual exploratory literature reviews should be a thing of the past, as technology and development of machine learning methods have matured. The learning curve for using machine learning methods is rapidly declining, enabling new possibilities for all researchers. A framework is presented on how to use topic modelling on a large collection of papers for an exploratory literature review and how that can be used for a full literature review. The aim of the paper is to enable the use of topic modelling for researchers by presenting a step-by-step framework on a case and sharing a code template. The framework consists of three steps; pre-processing, topic modelling, and post-processing, where the topic model Latent Dirichlet Allocation is used. The framework enables huge amounts of papers to be reviewed in a transparent, reliable, faster, and reproducible way.
A technical and socioeconomic approach to estimate forest residues as a feedstock for bioenergy in northern Mexico
Authors: Carrasco-Diaz Guadalupe , Perez-Verdin Gustavo , Escobar-Flores Jonathan , Marquez-Linares Marco Antonio 
Published: October 2019

Abstract

Background
Forest residues can be a feasible alternative for converting energy into fuels, electricity, or heat. Compared to other second-generation bioenergy sources, they do not compete for food, are relatively cheap, abundant in forest-rich areas, and more importantly their energy balance is close to zero. Biomass estimations can help design energy strategies to reduce fossil fuels dependency. Because of the land property distribution in Mexico, biomass estimations should consider not only the physical availability, but also the willingness of landowners to extract such raw materials.

Methods
This study presents a methodological approach for evaluating the potential use of forest residues as a feedstock to generate bioenergy in northern Mexico. Remote sensing and field forest inventory were used to estimate the quantity and distribution of forest residues. In addition, a discrete choice analysis evaluated landowners’ preferences towards bioenergy development, including the most important factors that influence their willingness to extract their products and the expected price.

Results and conclusions
Considering both physical and socio-economic aspects, results showed that about 59,000 metric tons per year could be available in the study area. The vast majority of landowners surveyed are willing to extract forest residues, as long as they are presented with extraction plans with the highest income. However, many showed concerns about the environmental impacts this activity can have on soils, plants, and fauna. These results can help evaluate the potential of these resources for bioenergy development.
Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage
Authors: Visuttijai Kittichate , Hedberg-Oldfors Carola , Thomsen Christer , Glamuzina Emma , Kornblum Cornelia , Tasca Giorgio , Hernandez-Lain Aurelio , Sandstedt Joakim , Dellgren Göran , Roach Peter , Oldfors Anders 
Published: October 2019

Abstract

Context
Glycogenin is considered to be an essential primer for glycogen biosynthesis. Nevertheless, patients with glycogenin-1 deficiency due to biallelic GYG1 (NM_004130.3) mutations can store glycogen in muscle. Glycogenin-2 has been suggested as an alternative primer for glycogen synthesis in patients with glycogenin-1 deficiency.

Objective
The objective of this article is to investigate the importance of glycogenin-1 and glycogenin-2 for glycogen synthesis in skeletal and cardiac muscle.

Design, Setting, and Patients
Glycogenin-1 and glycogenin-2 expression was analyzed by Western blot, mass spectrometry, and immunohistochemistry in liver, heart, and skeletal muscle from controls and in skeletal and cardiac muscle from patients with glycogenin-1 deficiency.

Results
Glycogenin-1 and glycogenin-2 both were found to be expressed in the liver, but only glycogenin-1 was identified in heart and skeletal muscle from controls. In patients with truncating GYG1 mutations, neither glycogenin-1 nor glycogenin-2 was expressed in skeletal muscle. However, nonfunctional glycogenin-1 but not glycogenin-2 was identified in cardiac muscle from patients with cardiomyopathy due to GYG1 missense mutations. By immunohistochemistry, the mutated glycogenin-1 colocalized with the storage of glycogen and polyglucosan in cardiomyocytes.

Conclusions
Glycogen can be synthesized in the absence of glycogenin, and glycogenin-1 deficiency is not compensated for by upregulation of functional glycogenin-2. Absence of glycogenin-1 leads to the focal accumulation of glycogen and polyglucosan in skeletal muscle fibers. Expression of mutated glycogenin-1 in the heart is deleterious, and it leads to storage of abnormal glycogen and cardiomyopathy.
Aldosterone Reduction Rate After Saline Infusion Test May Be a Novel Prediction in Patients With Primary Aldosteronism
Authors: Nagano Hidekazu , Kono Takashi , Saiga Atsushi , Kubota Yoshihiro , Fujimoto Masanori , Felizola Saulo J A , Ishiwata Kazuki , Tamura Ai , Higuchi Seiichiro , Sakuma Ikki , Hashimoto Naoko , Suzuki Sawako , Koide Hisashi , Takeshita Nobushige , Sakamoto Shinichi , Ban Toshiaki , Yokote Koutaro , Nakamura Yasuhiro , Ichikawa Tomohiko , Uno Takashi , Tanaka Tomoaki 
Published: October 2019

Abstract

Objective
Accurate assessment and localization of aldosterone-producing adenomas (APAs) are essential for the treatment of primary aldosteronism (PA). Although adrenal venous sampling (AVS) is the standard method of reference for subtype diagnosis in PA, controversy exists concerning the criteria for its interpretation. This study aims to determine better indicators that can reliably predict subtypes of PA.

Method
Retrospective, single-cohort analysis including 209 patients with PA who were subjected to AVS. Eighty-two patients whose plasma aldosterone concentrations (PAC) were normalized after surgery were histopathologically or genetically diagnosed with APA. The accuracy of image findings was compared to AVS results. Receiver operating characteristic (ROC) curve analysis between the operated and the no-apparent laterality groups was performed using AVS parameters and loading test for diagnosis of PA.

Result
Agreement between image findings and AVS results was 56.3%. ROC curve analysis revealed that the lateralization index (LI) after adrenocorticotropin stimulation cutoff was 2.40, with 98.8% sensitivity and 97.1% specificity. The contralateral suppression index (CSI) cutoff value was 1.19, with 98.0% sensitivity and 93.9% specificity. All patients over the LI and CSI cutoff values exhibited unilateral subtypes. Among the loading test, the best classification accuracy was achieved using the PAC reduction rate after a saline infusion test (SIT) &gt;33.8%, which yielded 87.2% sensitivity or a PAC after a SIT &lt;87.9 pg/mL with 86.2% specificity for predicting bilateral PA.

Conclusion
The combined criteria of the PAC reduction rate and PAC after the SIT can determine which subset of patients with APA who should be performed AVS for validation.
Effects of Peptide YY on the Hypothalamic-Pituitary-Gonadal Axis in Healthy Men
Authors: Izzi-Engbeaya Chioma , Jones Sophie , Crustna Yoshibye , Machenahalli Pratibha C , Papadopoulou Deborah , Modi Manish , Panayi Christos , Starikova Jessica , Eng Pei Chia , Phylactou Maria , Mills Edouard , Yang Lisa , Ratnasabapathy Risheka , Sykes Mark , Plumptre Isabella , Coumbe Ben , Wing Victoria , Pacuszka Ewa , Bech Paul , Minnion James , Tharakan George , Tan Tricia , Veldhuis Johannes , Abbara Ali , Comninos Alexander N , Dhillo Waljit S 
Published: October 2019

Abstract

Context
Central and peripheral administration of peptide YY (PYY) has potent anorectic effects, and PYY analogs are under development as antiobesity treatments. Recent animal data suggest PYY may also influence the reproductive axis; however the effects of PYY on the human reproductive system are unknown.

Objective
To investigate the effects of PYY administration on the reproductive axis in healthy young men.

Design
Single-blind, randomized, placebo-controlled crossover study.

Setting
Clinical Research Facility, Imperial College Healthcare NHS Trust.

Participants
Eighteen healthy eugonadal men (mean age 24.1 ± 0.9 years, mean body mass index 22.2 ± 0.4 kg/m2).

Intervention
Eight-hour intravenous infusion of 0.4 pmol/kg/min PYY3-36 or rate-matched vehicle infusion.

Main Outcome Measures
Number of luteinizing hormone (LH) pulses, LH, follicle stimulating hormone (FSH), and testosterone levels.

Results
The number of LH pulses (mean number of LH pulses/8 hours: PYY 4.4 ± 0.3 vs vehicle 4.4 ± 0.4, P &gt; .99), LH area under the curve (AUC) (PYY 1503 ± 79 IU.min/L vs vehicle 1574 ± 86 IU.min/L, P = .36), FSH AUC (PYY 1158 ± 513 IU.min/L vs vehicle 1199 ± 476 IU.min/L, P = .49) and testosterone AUC (PYY 10 485 ± 684 IU.min/L vs vehicle 11 133 ± 803 IU.min/L, P = .24) were similar during PYY and vehicle infusions.

Conclusions
Acute intravenous infusion of 0.4 pmol/kg/min PYY does not affect the reproductive axis in healthy men.
Lipid Metabolism Links Nutrient-Exercise Timing to Insulin Sensitivity in Men Classified as Overweight or Obese
Authors: Edinburgh Robert M , Bradley Helen E , Abdullah Nurul-Fadhilah , Robinson Scott L , Chrzanowski-Smith Oliver J , Walhin Jean-Philippe , Joanisse Sophie , Manolopoulos Konstantinos N , Philp Andrew , Hengist Aaron , Chabowski Adrian , Brodsky Frances M , Koumanov Francoise , Betts James A , Thompson Dylan , Wallis Gareth A , Gonzalez Javier T 
Published: October 2019

Abstract

Context
Pre-exercise nutrient availability alters acute metabolic responses to exercise, which could modulate training responsiveness.

Objective
To assess acute and chronic effects of exercise performed before versus after nutrient ingestion on whole-body and intramuscular lipid utilization and postprandial glucose metabolism.

Design
(1) Acute, randomized, crossover design (Acute Study); (2) 6-week, randomized, controlled design (Training Study).

Setting
General community.

Participants
Men with overweight/obesity (mean ± standard deviation, body mass index: 30.2 ± 3.5 kg⋅m-2 for Acute Study, 30.9 ± 4.5 kg⋅m-2 for Training Study).

Interventions
Moderate-intensity cycling performed before versus after mixed-macronutrient breakfast (Acute Study) or carbohydrate (Training Study) ingestion.

Results
Acute Study—exercise before versus after breakfast consumption increased net intramuscular lipid utilization in type I (net change: –3.44 ± 2.63% versus 1.44 ± 4.18% area lipid staining, P &lt; 0.01) and type II fibers (–1.89 ± 2.48% versus 1.83 ± 1.92% area lipid staining, P &lt; 0.05). Training Study—postprandial glycemia was not differentially affected by 6 weeks of exercise training performed before versus after carbohydrate intake (P &gt; 0.05). However, postprandial insulinemia was reduced with exercise training performed before but not after carbohydrate ingestion (P = 0.03). This resulted in increased oral glucose insulin sensitivity (25 ± 38 vs –21 ± 32 mL⋅min-1⋅m-2; P = 0.01), associated with increased lipid utilization during exercise (r = 0.50, P = 0.02). Regular exercise before nutrient provision also augmented remodeling of skeletal muscle phospholipids and protein content of the glucose transport protein GLUT4 (P &lt; 0.05).

Conclusions
Experiments investigating exercise training and metabolic health should consider nutrient-exercise timing, and exercise performed before versus after nutrient intake (ie, in the fasted state) may exert beneficial effects on lipid utilization and reduce postprandial insulinemia.
Nonalcoholic Fatty Liver Disease in Adults: Current Concepts in Etiology, Outcomes, and Management
Authors: Marjot Thomas , Moolla Ahmad , Cobbold Jeremy F , Hodson Leanne , Tomlinson Jeremy W 
Published: October 2019

AbstractNonalcoholic fatty liver disease (NAFLD) is a spectrum of disease, extending from simple steatosis to inflammation and fibrosis with a significant risk for the development of cirrhosis. It is highly prevalent and is associated with significant adverse outcomes both through liver-specific morbidity and mortality but, perhaps more important, through adverse cardiovascular and metabolic outcomes. It is closely associated with type 2 diabetes and obesity, and both of these conditions drive progressive disease toward the more advanced stages. The mechanisms that govern hepatic lipid accumulation and the predisposition to inflammation and fibrosis are still not fully understood but reflect a complex interplay between metabolic target tissues including adipose and skeletal muscle, and immune and inflammatory cells. The ability to make an accurate assessment of disease stage (that relates to clinical outcome) can also be challenging. While liver biopsy is still regarded as the gold-standard investigative tool, there is an extensive literature on the search for novel noninvasive biomarkers and imaging modalities that aim to accurately reflect the stage of underlying disease. Finally, although no therapies are currently licensed for the treatment of NAFLD, there are interventions that appear to have proven efficacy in randomized controlled trials as well as an extensive emerging therapeutic landscape of new agents that target many of the fundamental pathophysiological processes that drive NAFLD. It is highly likely that over the next few years, new treatments with a specific license for the treatment of NAFLD will become available.
High-Throughput Mass Spectrometry Assay for Quantifying β-Amyloid 40 and 42 in Cerebrospinal Fluid
Authors: Weber Darren M , Tran Diana , Goldman Scott M , Taylor Steven W , Ginns Edward I , Lagier Robert J , Rissman Robert A , Brewer James B , Clarke Nigel J 
Published: October 2019

AbstractBACKGROUNDThe ratio of β-amyloid 1–42 (Aβ42) to Aβ40 in cerebrospinal fluid (CSF) may be useful for evaluating Alzheimer disease (AD), but quantification is limited by factors including preanalytical analyte loss. We developed an LC-MS/MS assay that limits analyte loss. Here we describe the analytical characteristics of the assay and its performance in differentiating patients with AD from non-AD dementia and healthy controls.METHODSTo measure Aβ42/Aβ40, we used unique proteolytically derived C-terminal peptides as surrogate markers of Aβ40 and Aβ42, which were analyzed and quantified by LC-MS/MS. The assay was analytically validated and applied to specimens from individuals with clinically diagnosed AD (n = 102), mild cognitive impairment (n = 37), and non-AD dementias (n = 22), as well as from healthy controls (n = 130). Aβ42/Aβ40 values were compared with APOE genotype inferred from phenotype, also measured by LC-MS/MS.RESULTSThe assay had a reportable range of 100 to 25000 pg/mL, a limit of quantification of 100 pg/mL, recoveries between 93% and 111%, and intraassay and interassay CV &lt;15% for both peptides. An Aβ42/Aβ40 ratio cutoff of &lt;0.16 had a clinical sensitivity of 78% for distinguishing patients with AD from non-AD dementia (clinical specificity, 91%) and from healthy controls (clinical specificity, 81%). The Aβ42/Aβ40 ratio decreased significantly (P &lt; 0.001) with increasing dose of APOE4 alleles.CONCLUSIONSThis assay can be used to determine Aβ42/Aβ40 ratios, which correlate with the presence of AD.
Multicenter Evaluation of Circulating Cell-Free DNA Extraction and Downstream Analyses for the Development of Standardized (Pre)analytical Work Flows
Authors: Lampignano Rita , Neumann Martin H.D , Weber Sabrina , Kloten Vera , Herdean Andrei , Voss Thorsten , Groelz Daniel , Babayan Anna , Tibbesma Marco , Schlumpberger Martin , Chemi Francesca , Rothwell Dominic G , Wikman Harriet , Galizzi Jean-Pierre , Riise Bergheim Inger , Russnes Hege , Mussolin Benedetta , Bonin Serena , Voigt Christine , Musa Hanny , Pinzani Pamela , Lianidou Evi , Brady Ged , Speicher Michael R , Pantel Klaus , Betsou Fay , Schuuring Ed , Kubista Mikael , Ammerlaan Wim , Sprenger-Haussels Markus , Schlange Thomas , Heitzer Ellen 
Published: October 2019

AbstractBACKGROUNDIn cancer patients, circulating cell-free DNA (ccfDNA) can contain tumor-derived DNA (ctDNA), which enables noninvasive diagnosis, real-time monitoring, and treatment susceptibility testing. However, ctDNA fractions are highly variable, which challenges downstream applications. Therefore, established preanalytical work flows in combination with cost-efficient and reproducible reference materials for ccfDNA analyses are crucial for analytical validity and subsequently for clinical decision-making.METHODSWe describe the efforts of the Innovative Medicines Initiative consortium CANCER-ID (http://www.cancer-id.eu) for comparing different technologies for ccfDNA purification, quantification, and characterization in a multicenter setting. To this end, in-house generated mononucleosomal DNA (mnDNA) from lung cancer cell lines carrying known TP53 mutations was spiked in pools of plasma from healthy donors generated from 2 different blood collection tubes (BCTs). ccfDNA extraction was performed at 15 partner sites according to their respective routine practice. Downstream analysis of ccfDNA with respect to recovery, integrity, and mutation analysis was performed centralized at 4 different sites.RESULTSWe demonstrate suitability of mnDNA as a surrogate for ccfDNA as a process quality control from nucleic acid extraction to mutation detection. Although automated extraction protocols and quantitative PCR-based quantification methods yielded the most consistent and precise results, some kits preferentially recovered spiked mnDNA over endogenous ccfDNA. Mutated TP53 fragments derived from mnDNA were consistently detected using both next-generation sequencing-based deep sequencing and droplet digital PCR independently of BCT.CONCLUSIONSThis comprehensive multicenter comparison of ccfDNA preanalytical and analytical work flows is an important contribution to establishing evidence-based guidelines for clinically feasible (pre)analytical work flows.
Education markets and schools’ mechanisms of exclusion: The case of Chile
Authors: Zancajo Adrián 
Published: October 2019

Education market advocates frequently argue that socioeconomically disadvantaged students could be the main beneficiaries of privatization and market policies. However, the international evidence has shown how privatization and pro-market policies have a negative impact in terms of equity, which particularly affect socioeconomically disadvantaged populations, increase school segregation and stratification, and foster educational inequalities. The main objective of this paper is to analyze how the responses developed by educational providers in marketized environments especially impact poor populations and can act as mechanisms of exclusion. In this context, Chile is an optimal case study due to the extreme version of privatization and market policies it adopted four decades ago. Based on the case study of two municipalities in Chile, which represent two local education markets, the presented evidence combines in-depth interviews with school principals and families. The paper analyses how schools’ responses in the context of a competitive environment produce, among other effects, processes of exclusion affecting students from low socioeconomic backgrounds, foster school segregation and increase educational inequalities. Finally, the paper elaborates on the limits of education markets and privatization policies, as well as market regulation reforms, in providing better educational opportunities to socioeconomically disadvantaged students.
Motivations to set up and manage low-fee private schools in India
Authors: Mond Hannah , Prakash Poorvaja 
Published: October 2019

Low-fee private schools (LFPS) educate some of India’s poorest children. They have grown dramatically over the last decade in India and have changed the country’s educational landscape (Srivastava, 2016), yet there is little conclusive evidence that the schools significantly help their students. Our study aims to better understand why and how the schools have grown, and we use a social entrepreneurship theory – the push and pull theory – to guide our research questions. We interviewed eight owners and asked: “what are the motivations of individual actors in setting up low fee private schools?” and “how do these actors justify continuing their work when presented with empirical research on these schools’ mixed impact on the quality of education they provide? There were more pull than push factors. Owners’ distrust of government schools, and the characteristically low-income nature of the communities drove them to choose the low-fee private school model. They justified their work despite evidence of these schools’ mixed impact, arguing that their schools were different from the regular LFPS and that there is high parental support for their schools. We recommend policies to better support such individuals and provide them with an awareness of alternative paths to contribute to improving education.