bluuebunny/crossref_metadata_2025_split huggingface dataset:
Comprehensive investigation of RNF213 nonsynonymous variants associated with intracranial artery stenosis
Authors: Hongo Hiroki , Miyawaki Satoru , Imai Hideaki , Shimizu Masahiro , Yagi Shinichi , Mitsui Jun , Ishiura Hiroyuki , Yoshimura Jun , Doi Koichiro , Qu Wei , Teranishi Yu , Okano Atsushi , Ono Hideaki , Nakatomi Hirofumi , Shimizu Tsuneo , Morishita Shinichi , Tsuji Shoji , Saito Nobuhito 
Published: July 2020

AbstractIntracranial artery stenosis (ICAS) is the most common cause of ischemic stroke worldwide. RNF213 single nucleotide variant c.14429G > A (p.Arg4810Lys, rs112735431) was recently reported to be associated with ICAS in East Asians. However, the disease susceptibility of other RNF213 variants has not been clarified. This study comprehensively investigated ICAS-associated RNF213 variants in a pool of 168 Japanese ICAS patients and 1,194 control subjects. We found 138 nonsynonymous germline variants by target resequencing of all coding exons in RNF213. Association study between ICAS patients and control subjects revealed that only p.Arg4810Lys had significant association with ICAS (P = 1.5 × 10–28, odds ratio = 29.3, 95% confidence interval 15.31–56.2 [dominant model]). Fourteen of 138 variants were rare variants detected in ICAS patients not harboring p.Arg4810Lys variant. Two of these rare variants (p.Cys118Arg and p.Leu2356Phe) consistent with variants previously reported in moyamoya disease patients characterized by stenosis of intracranial artery and association with RNF213, and three rare variants (p.Ser193Gly, p.Val1817Leu, and p.Asp3329Tyr) were found neither in control subjects and Single Nucleotide Polymorphism Database. The present findings may improve our understanding of the genetic background of intracranial artery stenosis.
Prediction of breeding regions for the desert locust Schistocerca gregaria in East Africa
Authors: Kimathi Emily , Tonnang Henri E. Z. , Subramanian Sevgan , Cressman Keith , Abdel-Rahman Elfatih M. , Tesfayohannes Mehari , Niassy Saliou , Torto Baldwyn , Dubois Thomas , Tanga Chrysantus M. , Kassie Menale , Ekesi Sunday , Mwangi David , Kelemu Segenet 
Published: July 2020

AbstractDesert locust outbreak in East Africa is threatening livelihoods, food security, environment, and economic development in the region. The current magnitude of the desert locust invasion in East Africa is unprecedented and has not been witnessed for more than 70 years. Identifying the potential breeding sites of the pest is essential to carry out cost-effective and timely preventive measures before it inflicts significant damage. We accessed 9,134 desert locust occurrence records and applied a machine-learning algorithm to predict potential desert locust breeding sites in East Africa using key bio-climatic (temperature and rainfall) and edaphic (sand and moisture contents) factors. Ten days greenness maps from February 2020 to April 2020 were overlaid in model outputs to illustrate the temporal evolution of breeding site locations. This study demonstrated that vast areas of Kenya and Sudan, north eastern regions of Uganda, and south eastern and northern regions of South Sudan are at high risk of providing a conducive breeding environment for the desert locust. Our prediction results suggest that there is need to target these high-risk areas and strengthen ground surveillance to manage the pest in a timely, cost-effective, and environmentally friendly manner.
Unravelling the different causes of nitrate and ammonium effects on coral bleaching
Authors: Fernandes de Barros Marangoni Laura , Ferrier-Pagès Christine , Rottier Cécile , Bianchini Adalto , Grover Renaud 
Published: July 2020

AbstractMass coral bleaching represents one of the greatest threats to coral reefs and has mainly been attributed to seawater warming. However, reduced water quality can also interact with warming to increase coral bleaching, but this interaction depends on nutrient ratios and forms. In particular, nitrate (NO3−) enrichment reduces thermal tolerance while ammonium (NH4+) enrichment tends to benefit coral health. The biochemical mechanisms underpinning the different bleaching responses of corals exposed to DIN enrichment still need to be investigated. Here, we demonstrated that the coral Stylophora pistillata underwent a severe oxidative stress condition and reduced aerobic scope when exposed to NO3− enrichment combined with thermal stress. Such condition resulted in increased bleaching intensity compared to a low-nitrogen condition. On the contrary, NH4+ enrichment was able to amend the deleterious effects of thermal stress by favoring the oxidative status and energy metabolism of the coral holobiont. Overall, our results demonstrate that the opposite effects of nitrate and ammonium enrichment on coral bleaching are related to the effects on corals’ energy/redox status. As nitrate loading in coastal waters is predicted to significantly increase in the future due to agriculture and land-based pollution, there is the need for urgent management actions to prevent increases in nitrate levels in seawater. In addition, the maintenance of important fish stocks, which provide corals with recycled nitrogen such as ammonium, should be favoured.
Changes in immune parameters between pre-treatment and recurrence after (chemo) radiation therapy in patients with head and neck cancer
Authors: Ono Takeharu , Azuma Koichi , Kawahara Akihiko , Kakuma Tatsuyuki , Sato Fumihiko , Kawaguchi Toshihiko , Akiba Jun , Umeno Hirohito 
Published: July 2020

AbstractSquamous cell carcinoma of the head and neck (SCCHN) has a high recurrence rate after (chemo) radiation therapy [(C)RT]. The relationship between the changing levels of immune checkpoint molecules and immune cells in pre-(C)RT tissues and locally recurrent tissues in the irradiated field, after (C)RT completion, is not known. This study aimed to assess the changes in these immune parameters between pre-(C)RT tissue and the same area after local recurrence post-(C)RT. We retrospectively reviewed 30 (C)RT-treated patients with SCCHN. We performed immunohistochemical analyses on these immune parameters using paired tissue samples obtained pre-(C)RT and at local recurrence sites post-(C)RT. No significant changes in immune parameters were found between the pre-(C)RT and locally recurrent tissues. An increased density of CD8+ tumor-infiltrating lymphocytes (TILs) showed a significantly positive correlation with PD-L expression on tumor cells (TC-PD-L1). Patients with increased TC-PD-L1 expression and CD8+TIL density showed favourable prognosis, and one of them showed a favourable response to nivolumab therapy. Our study shows a positive association between TC-PD-L1 upregulation and increased CD8+TIL density, and demonstrates that patients with these changes have a favourable survival outcome.
Endogenous neurotoxin-like protein Ly6H inhibits alpha7 nicotinic acetylcholine receptor currents at the plasma membrane
Authors: Moriwaki Yasuhiro , Kubo Natsuki , Watanabe Mizuho , Asano Shinsuke , Shinoda Tomoki , Sugino Taro , Ichikawa Daiju , Tsuji Shoutaro , Kato Fusao , Misawa Hidemi 
Published: July 2020

Abstractα7 nicotinic acetylcholine receptors (nAChRs) are widely expressed in the central nervous system and regarded as potential therapeutic targets for neurodegenerative conditions, such as Alzheimer’s disease and schizophrenia. Yet, despite the assumed pathophysiological importance of the α7 nAChR, molecular physiological characterization remains poorly advanced because α7 nAChR cannot be properly folded and sorted to the plasma membranes in most mammalian cell lines, thus preventing the analyses in heterologous expression system. Recently, ER-resident membrane protein NACHO was discovered as a strong chaperone for the functional expression of α7 nAChR in non-permissive cells. Ly6H, a brain-enriched GPI-anchored neurotoxin-like protein, was reported as a novel modulator regulating intracellular trafficking of α7 nAChR. In this study, we established cell lines that stably and robustly express surface α7 nAChR by introducing α7 nAChR, Ric-3, and NACHO cDNA into HEK293 cells (Triple α7 nAChR/RIC-3/NACHO cells; TARO cells), and re-evaluated the function of Ly6H. We report here that Ly6H binds with α7 nAChRs on the cell membrane and modulates the channel activity without affecting intracellular trafficking of α7 nAChR.
The impact of vitamin D supplementation on VDR gene expression and body composition in monozygotic twins: randomized controlled trial
Authors: Medeiros Jeane Franco Pires , de Oliveira Borges Michelle Vasconcelos , Soares Aline Alves , dos Santos Jessica Cavalcante , de Oliveira Ana Beatriz Bezerra , da Costa Conceição Horrana Belo , Cruz Marina Sampaio , Bortolin Raul Hernandes , de Freitas Renata Caroline Costa , Dantas Paulo Moreira Silva , Hirata Mario Hiroyuki , Silbiger Vivian Nogueira , Luchessi André Ducati 
Published: July 2020

AbstractVitamin D supplementation is widely used. However, there is no consensus on the use and dosage of this supplement and the existing recommendations arise from studies based on the benefits that this nutrient can facilitate in bones. In addition, individual genetics can influence the response to supplementation, therefore, research involving monozygotic twins aims to reduce these differences in phenotypic responses. The objective of this randomised controlled study is to examine the effect of vitamin D supplementation on body composition and the expression of the vitamin D receptor (VDR) mRNA. An intervention was performed through supplementation with cholecalciferol at the concentration of 2000 IU in 90 healthy adult monozygotic twins (male or female pairs) for 2 months. The findings showed that serum vitamin D concentration increased by 65% and VDR gene expression sixty times (p = 0.001). Changes in body composition parameters were observed regarding body fat and lean mass. Our results indicate that an increase in serum vitamin D concentration may have potential therapeutic implications.
Geometry of the X-ray source 1H 0707–495
Authors: Szanecki Michał , Niedźwiecki Andrzej , Done Chris , Klepczarek Łukasz , Lubiński Piotr , Mizumoto Misaki 
Published: July 2020

Aims. We investigate the constraints on the size and location of the X-ray source in 1H 0707–495 determined from the shape of the relativistically smeared reflection from the accretion disc.
Methods. We developed a new code to model an extended X-ray source and we applied this code to all archival XMM observations of 1H 0707–495.
Results. In contrast to earlier works we find that the relativistic reflection in this source is not consistent with an extended uniform corona. Instead, we find that the X-ray source must be very compact, at most a gravitational radius in size, and located at most a few gravitational radii from the black-hole horizon. A uniform extended corona produces an emissivity that is similar to a twice-broken power-law, but the inner emissivity is fixed by the source geometry rather than being a free parameter. In 1H0707–495, the reflection from the inner disc is much stronger than expected for a uniformly extended source. Including the effect of ionised absorption from the wind does not change this conclusion, but including scattered emission (and more complex absorption) from the wind can dramatically change the reflection parameters.
Selbst- und Fremdwahrnehmung von Genesungsbegleitenden im klinisch-psychiatrischen Alltag
Authors: Groß Sophie E. , Zielasek Jürgen , Kitzig Friedhelm , Schröder Monika , Jahnke Bettina , Gouzoulis-Mayfrank Euphrosyne 
Published: July 2020

Zusammenfassung
Ziel Seit 2016 sind Genesungsbegleitende (GB) in einem Klinikverbund mit 9 psychiatrischen Kliniken im Einsatz. Ziel dieser Untersuchung war es, Erwartungen und Erfahrungen mit Genesungsbegleitung zu erheben.
Methodik Bei einem Projekttag erfolgte eine anonyme Befragung von 12 GB und 32 klinisch tätigen Personen (Schlüsselpersonen: SP) aus allen Kliniken.
Ergebnisse Die Bedeutung der Genesungsbegleitung, die Zusammenarbeit mit Stationsteams und die Unterstützung durch Vorgesetzte wurden positiv bewertet. SP schätzten die Bedeutung der GB höher ein als die GB selbst. GB wünschten sich tendenziell mehr Selbstständigkeit als von SP gewünscht. Im Vergleich zur Selbstwahrnehmung erlebten SP die GB als etwas unsicherer und belasteter.
Schlussfolgerung Es zeigte sich eine hohe Zufriedenheit mit der Arbeit der GB, aber auch Unterschiede zwischen Fremd- und Selbstwahrnehmung. Benötigt werden qualitative und umfangreichere quantitative Befragungen.
White Matter Lesions in Adults – a Differential Diagnostic Approach
Authors: Weidauer Stefan , Wagner Marlies , Hattingen Elke 
Published: July 2020

Objective Cerebral white matter lesions on MRI in adults are a common finding. On the one hand, they may correspond to a clinically incidental feature, be physiologically or age-associated, or on the other hand they may be the overture to a severe neurological disease. With regard to pathophysiological aspects, practical hints for the differential diagnostic interpretation of lesions in daily clinical practice are presented.Material and Methods With special regard to the vascular architecture and supply of the cerebral white matter, physiological structures are schematically represented and pathophysiological processes are highlighted by comparative image analysis of equally angulated MR sequences.Results The most frequent vascular, inflammatory, metabolic, and neoplastic disease entities are presented on the basis of characteristic imaging findings and corresponding clinical- neurological constellations. The details of signal intensities and localization essential for differential diagnosis are highlighted.Conclusion By means of comparative image analysis and the recognition of characteristic lesion patterns, taking into account anatomical principles and pathophysiological processes, the differential diagnostic classification of cerebral white matter lesions and associated diseases can be significantly facilitated. The additional consideration of clinical and laboratory findings is essential.Key Points: Citation Format
Ultrasound Examination of the Pupil – A New Tool for the Neuro-Ophthalmological Assessment
Authors: Farina Filippo , Vosko Milan R. , Baracchini Claudio , Ermani Mario , Sommer Peter , Greisenegger Stefan , Laubichler Peter , Struhal Walter , Kellermair Lukas , Ransmayr Gerhard , Brunner Cornelia 
Published: July 2020

Abstract
Background Pupil examination represents a diagnostic and prognostic test in the management of several neurological diseases. Infrared video pupillometry (IVP) is the gold standard, since it is not routinely available, a noninvasive bedside ultrasound assessment has been proposed as an alternative. The aim of this study was to assess the feasibility and reproducibility of ultrasound pupillometry (UP) in comparison with IVP.
Materials and Methods 81 subjects (43 men and 38 women, mean age: 52 ± 20 years and 49 ± 19 years, respectively) with no history of neurophthalmologic disease were enrolled. UP was performed with a 12-MHz linear probe according to current guidelines for orbital insonation. Light and painful stimuli were applied to test pupillary light reflex (PLR) and ciliospinal reflex (CR). In 30 of these subjects IVP examination was performed additionally to obtain intra-observer and inter-observer agreement.
Results Increasing age was associated with a decreased pupillary diameter (PD) at rest, after PLR and CR (R –0.728, p < 0.01, R –0.643, p < 0.01, R 0.674, p < 0.001 respectively), while no association was noticed with time to constriction/dilation. UP measurements were reproducible (rate of inter- and intra-observer agreement: R 0.979, p < 0.01, R 0.946, p < 0.01 respectively) and concordant with IVP (PLR R 0.831, p < 0.01; CR R 0.879, p < 0.01).
Conclusion According to our study, ultrasound pupillometry is a feasible and reliable technique for bedside pupillary function assessment, and is a good alternative to infrared video pupillometry. Moreover, it represents the only way for functional pupillary assessment in patients with periorbital hematoma.
From Enantioselective to Regiodivergent Epoxide Opening and Radical Arylation – Useful or Just Interesting?
Authors: Gansäuer Andreas 
Published: July 2020

It is shown how the simple titanocene(III)-catalyzed reductive opening of epoxides has developed from a highly selective desymmetrizing opening of meso-epoxides. The combination of the origins of regioselectivity with atom-economic catalysis in single electron steps results in a highly selective regiodivergent epoxide opening (REO).1	Introduction2	Regiodivergent Epoxide Opening3	Atom Economy and Epoxide Arylation4	REO Arylation5	Words about the Wording6	Conclusion
Reintroducción de la circuncisión como una técnica quirúrgica reconstructiva
Authors: Moreno Bencardino Camila , Fernandez Jose Nicolas 
Published: July 2020

ResumenLa circuncisión es una cirugía practicada frecuentemente en urología. Sin tener en cuenta los principios básicos de la cirugía reconstructiva, puede generar procesos de cicatrización anómalos, con resultados estéticos y funcionales inadecuados, fimosis secundaria, cicatrización hipertrófica, queloide o “pene enterrado.” El objetivo de este video es recordar la importancia de operar con las directrices de una cirugía reconstructiva, resaltando el cuidado de los tejidos y el uso de suturas de bajo calibre, para prevenir complicaciones y resultados insatisfactorios, resaltando la preservación de las zonas postuladas por Firlit. Se sospecha que las complicaciones de este procedimiento son subestimadas por los especialistas. El manejo cuidadoso de los tejidos, el uso de suturas de bajo calibre y los puntos subcuticulares con poca tensión, son medios para optimizar el proceso de cicatrización, evitando la isquemia y las cicatrices hipertróficas, basados en el fundamento de que esta es una cirugía no solo funcional, sino reconstructiva y estética. La circuncisión es un procedimiento que debe conservar la funcionalidad y estética del pene, por lo que debe ser realizado bajo las directrices de una cirugía reconstructiva.
NAXD Deficiency Associated with Perinatal Autoinflammation, Pancytopenia, Dermatitis, Colitis, and Cystic Encephalomalacia
Authors: Lucas Nadja , Dückers Gregor , Speckmann Carsten , Ehl Stephan , Utz Norbert , Cheng Bochen , Fang Mingyan , Niehues Tim , Lee-Kirsch Min Ae 
Published: July 2020

AbstractNAD(P)HX dehydratase (NAXD) catalyzes the recovery of toxic derivatives of nicotinamide adenine dinucleotides which play an essential role in mitochondrial metabolism. Mutations in NAXD were recently shown to cause early-onset neurodegeneration exacerbated by febrile illness. Here, we report a novel homozygous stop-gain variant in NAXD in an infant who presented with a fulminant course of autoinflammation, dermatitis, colitis, and cystic encephalomalacia beginning at 3 weeks of age. Our findings support the central role of NAXD-mediated metabolite repair for normal tissue function and implicate innate immune processes in the pathogenesis of NAXD deficiency.
Transcranial Approaches to the Orbit
Authors: Gardner Paul A. , Zenonos Georgios A. , Formentin Cleiton , Pichugin Arseniy 
Published: July 2020

AbstractTranscranial approaches to the orbit provide familiar and flexible approaches with wide access to the majority of the orbit, only limited in the inferomedial orbit. A pterional craniotomy is the predominant approach but can be expanded with an orbital or zygomatic osteotomy for even wider access. Minimally invasive approaches, such as the lateral supraorbital or “eyebrow” supraorbital approach, are options for selected pathologies and minimize morbidity related to the approach.
Periostin: Immunomodulatory Effects on Oral Diseases
Authors: Khurshid Zohaib , Mali Maria , Adanir Necdet , Zafar Muhammad Sohail , Khan Rabia Sannam , Latif Muhammad 
Published: July 2020

AbstractPeriostin is a microcellular adapter protein. It plays a wide range of essential roles during the development and in immunomodulation. Periostin is a prominent contributor during the process of angiogenesis, tumorigenesis, and cardiac repair. It is expressed in periodontal ligaments, tendons, skin, adipose tissues, muscle, and bone. This is a protein-based biomolecule that has the diagnostic and monitoring capability and can potentially be used as a biomarker to detect physiological and pathological conditions. The aim of the present review was to explore the periostin morphology and associated structural features. Additionally, periostin’s immunomodulatory effects and associated biomarkers in context of oral diseases have been discussed.
Role of Hydroxyapatite and Ellagic Acid in the Osteogenesis
Authors: Wardhana Agung Satria , Nirwana Intan , Budi Hendrik Setia , Surboyo Meircurius Dwi Condro 
Published: July 2020

Abstract
Objective Ellagic acid (EA), a phenolic antioxidant, has benefits in bone health and wound healing. The combination of EA and hydroxyapatite (HA) (EA-HA) is expected to increase osteogenesis. The aim of this study was to analyze osteogenesis after application of EA-HA according to the number of osteoblasts and osteoclasts in the bone and the expression of the receptor activator of nuclear factor kappa-β ligand (RANKL), osteoprotegerin (OPG), and osteocalcin (OCN) protein.
Materials and Methods Thirty Wistar rats were assessed with bone defects created in the left femur. The defects were filled with EA-HA and then sutured. Control groups were filled with polyethylene glycol (PEG) or HA. Each group was sacrificed either 7 or 14 days after treatment.
Results The defects filled with EA-HA exhibited the highest number of osteoblasts and the greatest expression of OPG and OCN at both day 7 and day 14 (p = 0.000). Conversely, treatment with EA-HA resulted in lower numbers of osteoclasts and reduced RANKL staining at both time points (p = 0.000).
Conclusions EA-HA can increase osteogenesis in bone defects by increasing the number of osteoblasts and the expression of OPG and OCN.
Diffuse Alveolar Damage Correlation with Clinical Diagnosis of Pediatric Acute Respiratory Distress Syndrome
Authors: Serdaroglu Esra , Kesici Selman , Bayrakci Benan , Kale Gulsev 
Published: July 2020

AbstractDiffuse alveolar damage (DAD) is one of the pathological hallmarks of acute respiratory distress syndrome (ARDS). We aimed to compare pathological findings of DAD with clinical ARDS criteria. We re-evaluated 20 patients whose clinical autopsy revealed DAD. Total 11/20 patients with DAD (55%) met the 1994 American–European Consensus Conference and 7/17 (41%) met the 2012 Berlin clinical criteria. DAD showed only moderate correlation with current clinical ARDS definition. Oxygenation index (OI), seems to be the most valuable tool in predicting pulmonary damage severity, though OI is not listed in either of the previous definitions. We support the recommended use of OI by 2015 consensus conference.