bluuebunny/crossref_metadata_2025_split huggingface dataset:
Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants
Authors: Marguet Florent , Vezain Myriam , Marcorelles Pascale , Audebert-Bellanger Séverine , Cassinari Kévin , Drouot Nathalie , Chambon Pascal , Gonzalez Bruno J. , Horowitz Arie , Laquerriere Annie , Saugier-Veber Pascale 
Published: June 2021

AbstractThe prevalence of congenital hydrocephalus has been estimated at 1.1 per 1000 infants when including cases diagnosed before 1 year of age after exclusion of neural tube defects. Classification criteria are based either on CSF dynamics, pathophysiological mechanisms or associated lesions. Whereas inherited syndromic hydrocephalus has been associated with more than 100 disease-causing genes, only four genes are currently known to be linked to congenital hydrocephalus either isolated or as a major clinical feature: L1CAM, AP1S2, MPDZ and CCDC88C. In the past 10 years, pathogenic variants in CCDC88C have been documented but the neuropathology remains virtually unknown. We report the neuropathology of two foetuses from one family harbouring two novel compound heterozygous pathogenic variants in the CCDC88C gene: a maternally inherited indel in exon 22, c.3807_3809delinsACCT;p.(Gly1270Profs*53) and a paternally inherited deletion of exon 23, c.3967-?_c.4112-?;p.(Leu1323Argfs*10). Medical termination of pregnancy was performed at 18 and 23 weeks of gestation for severe bilateral ventriculomegaly. In both fetuses, brain lesions consisted of multifocal atresia-forking along the aqueduct of Sylvius and the central canal of the medulla, periventricular neuronal heterotopias and choroid plexus hydrops. The second fetus also presented lumbar myelomeningocele, left diaphragmatic hernia and bilateral renal agenesis. CCDC88C encodes the protein DAPLE which contributes to ependymal cell planar polarity by inhibiting the non-canonical Wnt signaling pathway and interacts with MPDZ and PARD3. Interestingly, heterozygous variants in PARD3 result in neural tube defects by defective tight junction formation and polarization process of the neuroepithelium. Besides, during organ formation Wnt signalling is a prerequisite for planar cell polarity pathway activation, and mutations in planar cell polarity genes lead to heart, lung and kidney malformations. Hence, candidate variants in CCDC88C should be carefully considered whether brain lesions are isolated or associated with malformations suspected to result from disorders of planar cell polarity.
α-Synuclein pathology in Parkinson disease activates homeostatic NRF2 anti-oxidant response
Authors: Delaidelli Alberto , Richner Mette , Jiang Lixiang , van der Laan Amelia , Bergholdt Jul Christiansen Ida , Ferreira Nelson , Nyengaard Jens R. , Vægter Christian B. , Jensen Poul H. , Mackenzie Ian R. , Sorensen Poul H. , Jan Asad 
Published: June 2021

AbstractCircumstantial evidence points to a pathological role of alpha-synuclein (aSyn; gene symbol SNCA), conferred by aSyn misfolding and aggregation, in Parkinson disease (PD) and related synucleinopathies. Several findings in experimental models implicate perturbations in the tissue homeostatic mechanisms triggered by pathological aSyn accumulation, including impaired redox homeostasis, as significant contributors in the pathogenesis of PD. The nuclear factor erythroid 2-related factor (NRF2/Nrf2) is recognized as ‘the master regulator of cellular anti-oxidant response’, both under physiological as well as in pathological conditions. Using immunohistochemical analyses, we show a robust nuclear NRF2 accumulation in post-mortem PD midbrain, detected by NRF2 phosphorylation on the serine residue 40 (nuclear active p-NRF2, S40). Curated gene expression analyses of four independent publicly available microarray datasets revealed considerable alterations in NRF2-responsive genes in the disease affected regions in PD, including substantia nigra, dorsal motor nucleus of vagus, locus coeruleus and globus pallidus. To further examine the putative role of pathological aSyn accumulation on nuclear NRF2 response, we employed a transgenic mouse model of synucleionopathy (M83 line, expressing the mutant human A53T aSyn), which manifests widespread aSyn pathology (phosphorylated aSyn; S129) in the nervous system following intramuscular inoculation of exogenous fibrillar aSyn. We observed strong immunodetection of nuclear NRF2 in neuronal populations harboring p-aSyn (S129), and found an aberrant anti-oxidant and inflammatory gene response in the affected neuraxis. Taken together, our data support the notion that pathological aSyn accumulation impairs the redox homeostasis in nervous system, and boosting neuronal anti-oxidant response is potentially a promising approach to mitigate neurodegeneration in PD and related diseases.
Anti-Tr/DNER antibody paraneoplastic cerebellar degeneration preceding a very late relapse of Hodgkin Lymphoma after 12 years
Authors: Christensen Peter Broegger , Gregersen Henrik , Almasi Charlotte 
Published: June 2021

Abstract
Background
Paraneoplastic cerebellar degeneration (PCD) is a classic neurological syndrome where the presence of Anti-Tr/DNER antibodies is strongly associated with Hodgkin Lymphoma (HL). Awareness of the syndrome is important because with prompt treatment the prognosis of HL is good. The diagnosis can be a challenge in some patients. The importance of PCD in the detection of a cancer relapse is not clarified. We report the case of a 76-year-old man where a PCD, initially misdiagnosed as a stroke led to a diagnosis of a very late relapse of HL after 12 years.

Case presentation
A 76-year-old male with a 3-week history of unstable walking, slow speech and dizziness was admitted to our stroke unit apparently because the symptoms started acutely. With a diagnostic delay of 3–4 weeks a correct diagnosis of relapse HL was made based on cerebrospinal fluid changes with a strong positive reaction to anti-Tr/DNER antibodies, FDG-PET/CT scan, and biopsy findings. The medical history revealed that the patient had been diagnosed with HL previously, but has been in complete remission for 12 years. The patient was treated with intravenous immunoglobulin, chemo- and radiation therapy. Over the following 6–8 weeks he improved.

Conclusions
Late relapse in HL is very rare. If it occurs it presents as a symptomatic lymphadenopathy. Our case shows, that PCD can be the only presenting symptom of a very late relapse of HL. Paraneoplastic neurological syndromes (PNS) should be considered even in patients with very long cancer remission. PCD can in rare cases mimic a stroke within the posterior circulation. If MR imaging in severe acute/subacute cerebellar syndrome is normal further investigation is mandatory to rule out a PNS, particular in patients with a previous cancer.
Protein secondary structure prediction (PSSP) using different machine algorithms
Authors: Afify Heba M. , Abdelhalim Mohamed B. , Mabrouk Mai S. , Sayed Ahmed Y. 
Published: June 2021

Abstract
Background
The computational biology approach has advanced exponentially in protein secondary structure prediction (PSSP), which is vital for the pharmaceutical industry. Extracting protein structure from the laboratory has insufficient information for PSSP that is used in bioinformatics studies. In this paper, the support vector machine (SVM) model and decision tree are presented on the RS126 dataset to address the problem of PSSP. A decision tree is applied for the SVM outcome to obtain the relevant guidelines possible for PSSP. Furthermore, the number of produced rules was fairly small, and they show a greater degree of comprehensibility compared to other rules. Several of the proposed principles have compelling and relevant biological clarification.

Results
The results confirmed that the existence of a particular amino acid in a protein sequence increases the stability for the forecast of protein secondary structure. The suggested algorithm achieved 85% accuracy for the E|~E classifier.

Conclusions
The proposed rules can be very important in managing wet laboratory experiments intended at determining protein secondary structure. Lastly, future work will focus mainly on large protein datasets without overfitting and expand the amount of extracted regulations for PSSP.
Association Between Serum 25-hydroxyvitamin D Concentrations and Mortality Among Adults With Prediabetes
Authors: Lu Qi , Wan Zhenzhen , Guo Jingyu , Liu Liegang , Pan An , Liu Gang 
Published: June 2021

Abstract

Objectives
To investigate the association of circulating 25-hydroxyvitamin D [25(OH)D] levels with mortality among adults with prediabetes.

Methods
This retrospective cohort study included 15,195 adults with prediabetes (aged ≥20 years) from the National Health and Nutrition Examination Survey (NHANES) III and NHANES 2001-2014. Mortality from all causes, cardiovascular disease (CVD), and cancer was linked to National Death Index mortality data.

Results
The median (interquartile range) concentration of serum 25(OH)D was 60.5 (45.3, 77.4) nmol/L, and only 23.1% had sufficient vitamin D (≥75 nmol/L). Elevated serum 25(OH)D concentrations were significantly associated with lower levels of insulin, homeostasis model assessment of insulin resistance, triglyceride, and C-reactive protein, and higher levels of high-density lipoprotein at baseline (all Ptrend &lt; 0.05). During a median follow up of 10.7 years, 3765 deaths (including 1080 CVD deaths and 863 cancer deaths) were identified. Compared with participants with 25(OH)D &lt;30 nmol/L, the multivariate-adjusted hazard ratios and 95% confidence intervals for participants with 25(OH)D ≥ 75 nmol/L were 0.66 (0.53, 0.82) for all-cause mortality (Ptrend &lt; 0.001), 0.66 (0.48, 0.89) for CVD mortality (Ptrend = 0.001), and 0.82 (0.49, 1.35) for cancer mortality (Ptrend = 0.32). For per-unit increment in ln-transformed 25(OH)D, there was a 27% lower risk of all-cause mortality and a 34% lower risk of CVD mortality (both P &lt; 0.01).

Conclusions
These findings suggested that higher serum 25(OH)D concentrations were associated with lower all-cause and CVD mortality among individuals with prediabetes.
Resistance to Song: A Modernist View of Early Modern Lyric
Authors: Altieri Charles 
Published: June 2021

AbstractIn Theory of the Lyric Jonathan Culler makes powerful arguments for analogies between lyric and song, especially with regard to each medium’s commitment to producing pleasure and separating the speaking voice from individual psychology. But his case runs the risk of avoiding or oversimplifying lyric poems that resist these analogies. These poems call for interpretive acts that fully engage the work of syntax and structure in establishing distinctive modes of experience. Here Shakespeare’s sonnets demonstrate the roles syntax and structure can play, especially in cultivating complex acts of self-consciousness for which Hegel provides our best critical lens. With this focus, some important roles played by metaphysical conceits also become clear. The conceit forces acts of intense reflection. In the poetry, quintessentially in Donne’s “The Extasie,” there emerges a drama of the agents carrying out distinctive acts of self-interpretation: the fullness of love depends on hearing themselves speak and trying to imagine the objective difference that hearing is making in their behavior toward the other lover.
Survey on Strategies to Promote Social Inclusion Through Sports
Authors: Grandisson Marie , Chrétien-Vincent Myriam , Ouellet Béatrice , Marcotte Justine , Lamontagne Marie-Eve , Milot Élise 
Published: June 2021

AbstractA survey was conducted to document the perspectives of stakeholders in Quebec (Canada) on seven strategies that could promote social inclusion of people with intellectual disability through sports and physical activities. These strategies are associated with Unified Sports, awareness raising, training to coaches, supports through a companion, a peer or a resource person, and involvement in another role. A total of 229 individuals completed the survey. Their openness and desire to be involved was generally high for all seven strategies. Two strategies came out as most frequently prioritized: providing training to coaches and reinforcing awareness raising activities.
General Educators' Involvement in Interventions for Students With Intellectual Disability
Authors: Kuntz Emily M. , Carter Erik W. 
Published: June 2021

Abstract
General educators are crucial players in efforts to support inclusive education for students with intellectual disability. In this systematic review, we examined the roles of general educators within interventions delivered and evaluated in their middle and high school classrooms. Among these 40 intervention studies, the involvement of general educators could be characterized as mixed and often minimal. Across studies, general educator involvement spanned six different areas: developing the intervention, arranging peer involvement, implementing intervention components, providing perspectives, collecting data, and delivering class instruction. The ways in which general educators have contributed to the delivery of interventions in their classrooms remains uneven. We offer recommendations for research and practice aimed at increasing the involvement of general educators in providing support to students with intellectual disability.
Choosing Home: The Impact of Choosing Where to Live on People With Intellectual and Developmental Disabilities' Emergency Department Utilization
Authors: Friedman Carli 
Published: June 2021

Abstract
Social determinants of health are conditions, factors, and environments that impact people's health. One such metric of people's health is emergency department utilization, but there is less research exploring how social determinants impact the emergency department use of people with intellectual and developmental disabilities (IDD). This exploratory study examined the relationship between people with IDD choosing where and with whom to live—a social determinant of health—and emergency department utilization. We analyzed secondary Personal Outcome Measures data, and emergency department data from 251 people with IDD. Our findings revealed people with IDD who chose where and with whom to live had a 74% decrease in emergency department visits, regardless of their impairment severity. Choice in housing may improve people with IDD's health outcomes.
The interaction of intestinal bacteria and feed: a case study of intensive-duck husbandry in Central Java
Authors: Susanti R. , Dafip M. , Christijanti W. , Yuniastuti A. 
Published: June 2021

This study was aimed to compare sugars and amino acid content in duck’s feed and the intestinal bacteria's effects to improve ducks' quality. This research was an observational exploration involving five duck husbandries from Semarang, Temanggung, Magelang, Pati, and Salatiga District, Central Java. A total of 5 g of intestinal contents were collected from each of the five ducks randomly selected from each husbandry. The feed and intestinal contents were then analyzed using high-performance liquid chromatography (HPLC). The highest amino acid types were glutamate, aspartate, lysine, valine, and isoleucine, while the lowest was asparagine found in all sample farms. Intestinal contents freshly extracted then placed in dark bottles sterile for microbiome analysis with primers 6S rRNA V3-V4 genome identification. The concentration of glucose, fructose, and galactose in the intestine has increased significantly caused by digested polysaccharides. The composition of bacteria plays a vital role in digesting polysaccharides, makes them quickly absorbed by duck’s intestine cells. The abundance of bacteria in all sample locations was dominated by the phylum Firmicutes, especially Lactobacilalles, Bacilalles, and Clostridialles. Over feeding may not effective in sugar and essential amino acid absorption, however, it may play an essential role in the diversity of gut bacteria to produce necessary component for duck’s physiology.
The thermostable 4,6-α-glucanotransferase of Bacillus coagulans DSM 1 synthesizes isomaltooligosaccharides
Authors: Xiang Gang , Buwalda Piet L. , van der Maarel Marc J.E.C , Leemhuis Hans 
Published: June 2021

Abstract
The 4,6-α-glucanotransferases of the glycoside hydrolase family 70 can convert starch into isomaltooligosaccharides (IMOs). However, no thermostable 4,6-α-glucanotransferases have been reported to date, limiting their applicability in the starch conversion industry. Here we report the identification and characterization of a thermostable 4,6-α-glucanotransferase from Bacillus coagulans DSM 1. The gene was cloned and the recombinant protein, called BcGtfC, was produced in Escherichia coli. BcGtfC is stable up to 66 °C in the presence of substrate. It converts debranched starch into an IMO product with a high percentage of α-1,6-glycosidic linkages and a relatively high molecular weight compared to commercially available IMOs. Importantly, the product is only partly and very slowly digested by rat intestine powder, suggesting that the IMO will provide a low glycaemic response in vivo when applied as food ingredient. Thus, BcGtfC is a thermostable 4,6-α-glucanotransferase suitable for the industrial production of slowly digestible IMOs from starch.
Quality, Location and Collusion under Spatial Price Discrimination
Authors: Heywood John S. , Wang Zheng 
Published: June 2021

Abstract
We present the first demonstration of the influence of a quality rivalry on location choices under spatial price discrimination. The rivalry is shown to generate the socially efficient quality but to push locations inefficiently close together, a result not found under Hotelling pricing. We apply this new equilibrium to the anti-trust policy issue of collusion showing that introducing the quality rivalry reduces the likelihood of collusion.
Alberto Blest Gana and the Sensory Appeal of Wealth
Authors: Vilches Patricia 
Published: June 2021

AbstractThis essay explores sensory stimuli inLa aritmética en el amor[Arithmetic in Love/Economics of Love] (1860) as they relate to the consumer preferences (for clothing, furniture, jewellery) and purchasing practices of nineteenth-century Santiago, Chile. The novel presents detailed descriptions, for example, of fine fabrics, emphasising the sounds that the wearers of such fabric reproduce as they move about. Wealthy or not, people feel the pressure to present themselves in their best garments, but the “best noise” is made by the rich, who transmit the affect of opulence to the less fortunate. Overall, to radiate a sensory appeal, characters frequent the city of Santiago and patronise the finest clothing stores. From our very first encounter with the protagonist Fortunato Esperanzano, he is dressed accordingly, engaging with Santiago and showing in his persona that he shops only for nice clothes and the best cigars. From a Lefebvrian perspective, Fortunato represents how Chile’s modernisation transforms the capital’s “marketplace” as a social space where a new luxury economy flourishes and a traditional, rigid social order is maintained.
Multi-objective optimal planning of fast charging stations by considering various load models in distribution system
Authors: Battapothula Gurappa , Yammani Chandrasekhar , Maheswarapu Sydulu 
Published: June 2021

Abstract
Electric vehicles (EVs) load and its charging methodologies play a significant role in distribution system planning. The inaccurate modelling of EV load may overload the distribution system components, increase in Network Power Loss (NPL) and Maximum Voltage Deviation (MVD). The Constant Power (CP) load model is more popularly used to model both the conventional and EV loads in the distribution system. But the CP load modelling cannot provide accurate information of EV charging process. In this paper, the EV load is modelled as constant Impedance-constant Current-constant Power (ZIP), Exponential, Constant Current and Constant Power load models and the conventional loads are modelled as Residential–Industrial–Commercial (RIC) and Constant Power load models. With these EV and conventional load models, the optimal site and size of Fast Charging Stations (FCSs) in the distribution system have been determined. Further, to analyse the impact of load of FCSs in the distribution system, the distribution indices are calculated. The multi-objective hybrid SFL-TLBO algorithm has been used to determine the optimal location and size FCSs with the minimization of NPL, MVD and EV User Cost (EVUC) in the distribution system. To consider the uncertainty of the initial SOC of EVs, the Monte-Carlo simulation technique has been used. These studies have been carried out on 38-bus distribution system and substantiate results are presented.
Establishing osteopathic assessments to fulfill osteopathic recognition standards: a model for dermatology and other subspecialties
Authors: Mahlberg Scott J. , Liou Yujie Linda , Lloyd Jenifer 
Published: June 2021

Abstract
The 5 year transition period for American Osteopathic Association (AOA) training programs to apply for and receive Accreditation Council for Graduate Medical Education (ACGME) accreditation (i.e., the single graduate medical education system) was completed June 30, 2020. Of the previously AOA accredited programs that applied for or received osteopathic recognition (OR), only 24.5% are nonprimary care specialty programs according to the ACGME. The reluctance of specialty programs to apply for OR may be because osteopathic principles and practices (OPP) are not assessed. In order for programs to receive OR, they must have a standard method of assessment to assess osteopathic knowledge, including OPP and osteopathic manipulative treatment. In this Commentary, based on our assessment of the results of a literature review, we propose a model to provide a focused osteopathic assessment for the purposes of maintaining OR within residency training based on the ACGME six core competencies. Examples of multiple choice and essay questions are provided, as is a rubric for grading. The model is applied to the field of dermatology in this article and could serve as a blueprint to other subspecialties. With this framework, collaboration among programs will streamline the process to obtain OR in the ACGME single accreditation system.
Road surface influence on electric vehicle noise emission at urban speed
Authors: Cesbron Julien , Bianchetti Simon , Pallas Marie-Agnès , Le Bellec Adrien , Gary Vincent , Klein Philippe 
Published: June 2021

Abstract
Considering the relative quietness of electric motors, tyre/road interaction has become the prominent source of noise emission from Electric Vehicles (EVs). This study deals with the potential influence of the road surface on EV noise emission, especially in urban area. A pass-by noise measurement campaign has been carried out on a reference test track, involving six different road surfaces and five electric passenger car models in different vehicle segments. The immunity of sound recordings to background noise was considered with care. The overall and spectral pass-by noise levels have been analysed as a function of the vehicle speed for each couple of road surface and EV model. It was found that the type of EV has few influence on the noise classification of the road surfaces at 50 km/h. However, the noise level difference between the quietest and the loudest road surface depends on the EV model, with an average close to 6 dBA, showing the potential effect of the road surface on noise reduction in the context of growing EV fleet in urban area. The perspective based on an average passenger EV in a future French or European electric fleet is addressed.