bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of a novel deletion mutation in DPY19L2 from an infertile patient with globozoospermia: a case report
Authors: Li You-zhu , Wu Rong-feng , Zhu Xing-shen , Liu Wen-sheng , Ye Yuan-yuan , Lu Zhong-xian , Li Na 
Published: June 2020

Abstract
Background
Male infertility is an increasing medical concern worldwide. In most cases, genetic factors are considered as the main cause of the disease. Globozoospermia (MIM102530) (also known as round-headed sperm) is a rare and severe malformed spermatospermia caused by acrosome deficiency or severe malformation. A subset of genetic mutations, such as DNAH6, SPATA16, DPY19L2, PICK1, and CCIN related to globozoospermia, have been reported in the past few years. The DPY19L2 mutation is commonly found in patients with globozoospermia. Herein, a 180-kbp homozygote deletion at 12q14.2 (g.63950001–64130000) was identified by copy number variation sequencing (CNVseq) in a patient with a globozoospermia, including the complete deletion of DPY19L2.

Case presentation
A 27-year-old patient at the First Affiliated Hospital of Xiamen University was diagnosed with infertility because, despite normal sexual activity for 4 years, his wife did not conceive. The patient was in good health with no obvious discomfort, no history of adverse chemical exposure, and no vices, such as smoking and drinking. The physical examination revealed normal genital development. However, semen tests showed a normal sperm count of 0% and the morphology was the round head. Sperm cytology showed that acrosomal enzyme was lower than normal. Reproductive hormones were in the normal range. B ultrasound did not show any abnormal seminal vesicle, prostate, bilateral testis, epididymis, and spermatic veins. The karyotype was normal, 46, XY, and no microdeletion of Y chromosome was detected. However, a homozygous deletion mutation was found in DPY19L2, which was further diagnosed as globozoospermia.

Conclusions
The present study reported a male infertility patient who was diagnosed with globozoospermia. The analysis of gene mutations revealed that DPY19L2 had a homozygous mutation, which was the primary cause of globozoospermia.
IL-33/ST2 axis is involved in disease progression in the spleen during Leishmania donovani infection
Authors: Lamberet Aurore , Rostan Octavie , Dion Sarah , Jan Aurélien , Guegan Hélène , Manuel Christelle , Samson Michel , Gangneux Jean-Pierre , Robert-Gangneux Florence 
Published: June 2020

AbstractBackgroundDuring infection withLeishmania donovani, parasite control is linked to the systemic Th1 immune response, but in infected organs (liver, spleen and bone marrow), the response differs according to the micro-environment. The pleiomorphic cytokine interleukin-33 (IL-33) exerts various roles during infection, either protective or detrimental. In this study, we explored the role of IL-33 in the outcome ofLeishmaniainfection in the spleen.MethodsWe used several mouse models, on BALB/c and C57BL/6 (B6) backgrounds, infected withL. donovaniand sacrificed at 15, 30 or 60 days after infection and characterized mRNA expression of immune markers, immune cell populations, histological response, and parasite loads.ResultsDuring infection IL-33 and ST2 mRNA increased in parallel in the spleen of wild type (wt) animals and paralleled the immunodetection of ST2+ and IL-33+ cells; their expression was twice as high in BALB/c, compared to B6 mice. Mice treated with twice-weekly injections of rIL-33 had higher splenic parasite burdens on D15 (BALB/c) or on D60 (B6). In BALB/c, IL-33 treatment led to immune exhaustion with abolition of Th1 cytokine expression (IFN-γ and IL-12) in the spleen and higher serum levels of Th2 cytokines (IL-4, IL-5 and IL-13). In B6, IL-33 treatment induced the Treg cell pathway with a dramatic increase of FoxP3 mRNA induction and expression on tissue sections. IL-33-KO mice had lower parasite loads and a higher Th1 response than their wt counterparts.ConclusionsIL-33 appears as a factor of aggravation of the disease in the spleen tissue of mice infected withL. donovani.
DNA vaccine encoding heat shock protein 90 protects from murine lupus
Authors: Liu Aijing , Shi Fu-Dong , Cohen Irun R. , Castaldo Giuseppe , Matarese Giuseppe , Quintana Francisco J. , La Cava Antonio 
Published: June 2020

Abstract
Background
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease characterized by the presence of autoantibodies to multiple self-antigens, including heat shock proteins (HSP). Because of the increased expression of HSP90 and abnormal immune responses to it in SLE, we investigated whether an HSP90 DNA vaccine could modulate the development and clinical manifestations of SLE in lupus-prone mice.

Methods
(NZB x NZW)F1 (NZB/W) mice were vaccinated with DNA constructs encoding HSP90 or control plasmids or vehicle. The mice were then monitored for survival, circulating anti-dsDNA autoantibodies, and immune phenotypes. Renal disease was evaluated by immunohistochemistry and by the measurement of proteinuria.

Results
Vaccination with HSP90 DNA reduced lupus disease manifestations and prolonged the survival of NZB/W mice. The protective effects of the HSP90 DNA vaccine associated with the induction of tolerogenic dendritic cells (DCs) and an expansion of T regulatory cells (Tregs).

Conclusions
The beneficial effects of DNA vaccination with HSP90 in murine SLE support the possibility of HSP90-based therapeutic modalities of intervention in SLE.
A novel Cas9-targeted long-read assay for simultaneous detection of IDH1/2 mutations and clinically relevant MGMT methylation in fresh biopsies of diffuse glioma
Authors: Wongsurawat Thidathip , Jenjaroenpun Piroon , De Loose Annick , Alkam Duah , Ussery David W. , Nookaew Intawat , Leung Yuet-Kin , Ho Shuk-Mei , Day John D. , Rodriguez Analiz 
Published: June 2020

AbstractMolecular biomarkers provide both diagnostic and prognostic results for patients with diffuse glioma, the most common primary brain tumor in adults. Here, we used a long-read nanopore-based sequencing technique to simultaneously assessIDHmutation status andMGMTmethylation level in 4 human cell lines and 8 fresh human brain tumor biopsies. Currently, these biomarkers are assayed separately, and results can take days to weeks. We demonstrated the use of nanopore Cas9-targeted sequencing (nCATS) to identifyIDH1andIDH2mutations within 36 h and compared this approach against currently used clinical methods. nCATS was also able to simultaneously provide high-resolution evaluation ofMGMTmethylation levels not only at the promoter region, as with currently used methods, but also at CpGs across the proximal promoter region, the entirety of exon 1, and a portion of intron 1. We compared the methylation levels of all CpGs toMGMTexpression in all cell lines and tumors and observed a positive correlation between intron 1 methylation andMGMTexpression. Finally, we identified single nucleotide variants in 3 target loci. This pilot study demonstrates the feasibility of using nCATS as a clinical tool for cancer precision medicine.
Analysis of firefighting skill with a teleoperated robot
Authors: Tamura Yoshihiro , Amano Hisanori , Ota Jun 
Published: June 2020

AbstractTeleoperated robots are expected to perform tasks in extreme environments such as disaster sites. However, only few teleoperated robots are used for this purpose because their usability is poor compared to human skill in such tasks. Further, the use of human–machine interfaces used by teleoperated robots is in itself a human skill. In this study, we compare the skills of firefighters (experts) when using teleoperated robots and that of firefighters (novice) and analyze the results. Firefighters gain technical skills required for fighting fires from practical experiences; in comparison, novice firefighters have trouble acquiring these skills. We conducted a comparative experiment of the reconnaissance skills of firefighters in which ten firefighters (five novices and five experts) reconnoiter two simulated fire sites (one in a residential area and the other in a commercial facility area) with a teleoperated robot. The experimental results indicated that experts were more multifaceted in their evaluation of reconnaissance areas as compared to novices.
Role of beneficial fungi in managing diseases and insect pests of tea plantation
Authors: Kumhar Kishor Chand , Babu Azariah , Arulmarianathan John Peter , Deka Bhabesh , Bordoloi Mitali , Rajbongshi Hirakjyoti , Dey Pritam 
Published: June 2020

AbstractThe effectiveness of Trichoderma atroviride, T. asperellum, T. harzianum, against targeted tea disease causing pathogen, Fusarium solani (dieback), Beauveria bassiana against tea mosquito (Helopeltis theivora), and Metarhizium anisopliae against the red spider mite, Oligonychus coffeae Nietner, and the live wood eating termite (Microcerotermes beesoni Snyder), respectively were evaluated under laboratory and field conditions. The Trichoderma isolates showed effective control of F. solani (64.6 to 71.7%) under laboratory conditions, while the wettable powder (WP) formulation could reduce dieback disease incidence (57.1 to 77.7%) over control, under field conditions. The post prune application of Trichoderma asperellum on light pruned (LP) and application of T. asperellum as well as T. harzianum on deep skiffed (DS) tea fields showed a significant growth promotional response. The treated bushes could produce an average number of 421.2 and 398.4 shoots when it was applied 7.5 and 5.0% (w/v), respectively, which was higher than the number of shoots recorded in the control plots (259.4). The antagonist also induced comparatively higher shoot length (6.85–7.99 cm) than the untreated control plots (5.13–6.38 cm). The B. bassiana isolates (2 × 109 conidia/ml) exhibited 71.5 to 93.0% control of 2nd instar nymphs of H. theivora under in vitro conditions. However, addition of different adjuvants resulted in enhanced mortality. Under field conditions, the highest reduction of tea mosquito population of 52.3% was noted when B. bassiana (1 × 109cfu/ml) was sprayed along with Tween 20 plus and crude sugar. However, the wettable powder formulation of this EPF along with jaggery reduced the insect incidence. The M. anisopliae effectively controlled the red spider mite to the tune of 46.3 to 63.8% under laboratory conditions, while the wettable powder formulation of this isolate was more effective against the termite, resulting in the reduction of infestation to the tune of 84.2% under field conditions.
Pediatric Reference Ranges for Ultradistal Radius Bone Density: Results from the Bone Mineral Density in Childhood Study
Authors: Kindler Joseph M , Kalkwarf Heidi J , Lappe Joan M , Gilsanz Vicente , Oberfield Sharon , Shepherd John A , Kelly Andrea , Winer Karen K , Zemel Babette S 
Published: June 2020

Abstract

Context
The ultradistal (UD) radius is rich in trabecular bone and is easily measured by dual energy X-ray absorptiometry (DXA). UD radius areal bone mineral density (aBMD) may help identify trabecular bone deficits, but reference data are needed for research and clinical interpretation of this measure.

Objective
We developed age-, sex-, and population ancestry-specific reference ranges for UD radius aBMD assessed by DXA and calculated Z-scores. We examined tracking of UD radius aBMD Z-scores over 6 years and determined associations between UD radius aBMD Z-scores and other bone measures by DXA and peripheral quantitative computed tomography.

Design
Multicenter longitudinal study.

Participants
A total of 2014 (922 males, 22% African American) children ages 5 to 19 years at enrollment who participated in the Bone Mineral Density in Childhood Study.

Main Outcome Measure
UD radius aBMD.

Results
UD radius aBMD increased nonlinearly with age (P &lt; 0.001) and tended to be greater in males versus females (P = 0.054). Age-, sex-, and ancestry-specific UD radius aBMD reference curves were constructed. UD radius aBMD Z-scores positively associated with Z-scores at other skeletal sites (r = 0.54-0.64, all P &lt; 0.001) and peripheral quantitative computed tomography measures of distal radius total volumetric BMD (r = 0.68, P &lt; 0.001) and trabecular volumetric BMD (r = 0.70, P &lt; 0.001), and was weakly associated with height Z-score (r = 0.09, P = 0.015). UD radius aBMD Z-scores tracked strongly over 6 years, regardless of pubertal stage (r = 0.66-0.69; all P &lt; 0.05).

Conclusion
UD radius aBMD Z-scores strongly associated with distal radius trabecular bone density, with marginal confounding by stature. These reference data may provide a valuable resource for bone health assessment in children.
Development of the cochlea
Authors: Driver Elizabeth Carroll , Kelley Matthew W. 
Published: June 2020

ABSTRACT
The cochlea, a coiled structure located in the ventral region of the inner ear, acts as the primary structure for the perception of sound. Along the length of the cochlear spiral is the organ of Corti, a highly derived and rigorously patterned sensory epithelium that acts to convert auditory stimuli into neural impulses. The development of the organ of Corti requires a series of inductive events that specify unique cellular characteristics and axial identities along its three major axes. Here, we review recent studies of the cellular and molecular processes regulating several aspects of cochlear development, such as axial patterning, cochlear outgrowth and cellular differentiation. We highlight how the precise coordination of multiple signaling pathways is required for the successful formation of a complete organ of Corti.
Tranexamic acid and international ambulance services
Authors: Spaans Adam , Martin Jake , Ebbs Phillip 
Published: June 2020

Introduction: Severe haemorrhage may lead to pathologic release of fibrinolytic enzymes, which break down blood clots. Tranexamic acid (TXA) is a drug that inhibits the fibrinolysis of blood clots. Aim: The purpose of this review is to explore current literature regarding prehospital TXA administration for patients suffering severe haemorrhage following trauma, and to discuss whether this drug should be more widely used across modern international ambulance services. Methods: Literature searches of EBSCO Host, ProQuest and PubMed databases were conducted in August, 2019. Results: TXA administration within 3 hours following injury is associated with improved outcomes for severe haemorrhage patients. However, there are reservations that the success of TXA in developing countries and military settings may not be directly transferrable to the modern civilian healthcare systems. Discussion: The benefits of prehospital TXA administration appear compelling. Further studies will help guide wider international implementation of this drug in paramedic practice.
Nursing implications of over-breeding brachycephalic canines, focusing on British and French Bulldogs
Authors: Campbell Hannah 
Published: June 2020

Background: Within the veterinary field there are currently limited data on the role of registered veterinary nurses (RVNs) in improving the health of brachycephalic canines. To tackle this the veterinary team must discourage further breeding of those with predisposed health conditions. This can be done through raising awareness. Aims: The purpose of this study was to determine the nursing implications of overbreeding French and British Bulldogs. RVNs completed an online questionnaire on brachycephalic canines and clinical occurrence in practice. Data collected were extracted from NoviSurvey and analysed using Excel and Minitab 15. Results: Out of 103 participants, 67 responses were valid. Results showed a high prevalence of brachycephalic canines in practice, with 79% of RVNs treating them at least once a day. Caesarean sections were common, with 43% of RVNs identifying genetic abnormalities in brachycephalic litters on a frequent basis. Social media was identified as a cause for the increase in ownership. Conclusion: The veterinary profession must now play a larger role in public education to assist in improving welfare in these breeds.
Watershed Scale Nitrate-N Abatement of Instream Wetlands: An Appraisal Using the Soil and Water Assessment Tool
Authors: Sohoulande Djebou Dagbegnon Clement , Szogi Ariel A. , Stone Ken C. , Novak Jeffery M. 
Published: June 2020

HighlightsSWAT used to address watershed scale nitrate-N abatement of instream wetlands (ISWs).Experimental ISW results were incorporated into the watershed modeling framework.SWAT successfully captured and reproduced ISW impact on nitrate-N at sub-basin level.Scenarios of ISWs implementation were simulated, effects on nitrate-N export were evaluated.Results show ISWs can be used as conservation structures aimed at enhancing water quality.Abstract. In watersheds under high agricultural production, nitrate nitrogen (nitrate-N) pollution often originates from intensive application of fertilizers and animal manure to croplands. Surface runoff and nitrate-N export from farmlands contributes to the pollution of nearby reaches which flow into the watershed stream network. Experimental studies reported significant nitrate removal capacities of constructed instream wetlands (ISWs). However, cases of large-scale implementations of ISWs are uncommon, probably due to a paucity of watershed-scale studies which highlight the influence of ISWs on riverine water quality. To elucidate the ISWs nitrate-N abatement potential at the watershed scale, the Soil and Water Assessment Tool (SWAT) was used to model nitrate-N export in a highly agricultural watershed located in the Coastal Plain of North Carolina. SWAT was first calibrated and validated for streamflow and for nitrate-N export using data collected from the inlet and outlet of an experimental instream wetland. The validated SWAT model was used to simulate a decade of nitrate-N export under two scenarios: 1) watershed with ISWs implemented; and 2) watershed without ISWs. The results of the case study indicated that a watershed-wide implementation of ISWs is likely to curtail annual nitrate-N export by 49%. The study also evaluated cases where ISWs are implemented in selected percentage of sub-basins across the watershed. The outcomes show higher increments of nitrate-N curtailment when ISWs are implemented in the first top agricultural sub-basins. Hence, implementation of ISWs on selected sub-basins can mitigate nitrate-N from non-point sources and enhance water quality in the watershed’s stream network. Keywords: Runoff, Croplands, Instream wetland, Nitrate-N export, Denitrification, SWAT model, Watershed.
Morphological and crystallographic analysis of kidney stones in Eastern Morocco
Authors: El guerrouj Bouchra , Bouhrim Mohamed , Bencheikh Noureddine , Imtara Hamada , Kharchoufa Loubna , Ouassou Hayat , Bentata Yassamine , Daudon Michel , Melhaoui Mohammed 
Published: June 2020

<p><strong>Abstract</strong>:<strong> </strong>Renal lithiasis is a common disease in the eastern region of Morocco, as it threatens the public health because of its repetitive nature as well as the complications it can cause in the kidney. <strong></strong></p><p><strong>Objective</strong>: This study aims to investigate the morphological, molecular, and crystallographic characteristics of kidney stones affecting patients, specifically in the eastern region of Morocco.</p><p><strong>Methods</strong>: Morphological and constitutional analyses of 239 renal lithiases made it possible to identify the various crystalline forms present, to assess the structure of the stones and to determine the composition of their nucleation zone. </p><p><strong>Results</strong>: It appears that calcium oxalate is the main component of the analyzed stones. It represents 70.5 % of the stones, which 55.5 % are majority whewellite and 15 % in weddellite. In comparison, calcium phosphates and magnesium (carbapatite and struvite) are the majority in only 8.9 % of cases, uric acid in 19.8 % of stones, and ammonium acid urate in 0.8 %. Calcium oxalate is predominant in the core of 52.5 % of the stones, carbapatite in 24.1 %, and uric acid in 20.3 % and struvite in 2.9 %. Most of the stones analyzed consist of a mixture of different crystalline constituents. Only 9.3 % of the stones analyzed have a homogeneous composition. Several types of associations were identified, the main ones being whewellite-carbapatite and whewellite-weddellite-carbapatite. <strong>Conclusion</strong>:<strong> </strong>The present study shows that calcium oxalate is the most common compound in the samples studied, followed by the uric acid compound.</p>
Original process for Thymol Para-sulfonation: A Preliminary Optimization Study
Authors: Abderrahman Sabour , Abdelhafed El Asbahani , Abdellah Lacherai , Brahim El Ouadi , Abderrahim Jilale 
Published: June 2020

<p class="ElsKeyword">In this study, we described an original, new, simple, and productive one-pot method for Thymol para-sulfonation by using thionyl chloride (SOCl<sub>2</sub>) as a sulfonating agent under mild conditions. Spectroscopic analysis by FT-IR, mass spectrometry, and NMR 1H and 13C confirmed the structure of the parasulfonated derivative of Thymol: the 4-hydroxy-5-isopropyl-2-methylbenzenesulfonic acid. An optimization study was carried out to perform and improve the yield of this new para-sulfonation method by studying the effect of three parameters: temperature, the molar ratio (η) of the reactants, and solvents. The obtained results showed that the use of cyclohexane as a solvent, a molar ratio greater or equal than 3, and working under low temperatures increase the yield of this parasulfonation considerably to reach adequately 91.3%.</p>
Time-resolved characterization of ultrafast electrons in intense laser and metallic-dielectric target interaction
Authors: Galletti M. , Bisesto F. G. , Anania M. P. , Ferrario M. , Pompili R. , Poyé A. , Zigler A. 
Published: June 2020

High-intensity ultrashort laser pulses interacting with thin solid targets are able to produce energetic ion beams by means of extremely large accelerating fields set by the energetic ejected electrons. The characterization of such electrons is thus important in view of a complete understanding of the acceleration process. Here, we present a complete temporal-resolved characterization of the fastest escaping hot electron component for different target materials and thicknesses, using temporal diagnostics based on electro-optical sampling with 100 fs temporal resolution. Experimental evidence of scaling laws for ultrafast electron beam parameters have been retrieved with respect to the impinging laser energy (0.4–4 J range) and to the target material, and an empirical law determining the beam parameters as a function of the target thickness is presented.
Pemahaman Hadis Doa Pengalihan Hujan Pendekatan Geografis Jakarta menurut Ali Mustafa Yaqub
Authors: Anis Fatihunnada , Uyun Afaf Nazrat 
Published: June 2020

This article will explain and analyze Ali Mustafa Yaqub’s hadith understanding on the hadith of transferring a heavy rain with a geographical approach. The author observes that there are still many problems of misunderstanding on this type of hadith that are apparent among Indonesian Muslim communities, especially the citizen of Jakarta when facing heavy rains and floods in early 2020. The geography science is not a source of Islamic law, but this science can be one of the instruments on understanding the hadith correctly. Based on the geomorphology of geography, the hadith prayer for transferring a heavy rain cannot be practiced by the Jakarta residents because that prayer will only cause floods in Jakarta due to heavy rain that came down in Bogor and return to Jakarta. Ali Mustafa offered a prayer for the citizens of Jakarta when facing heavy rain with the phrase "O Allah, send down a rain at the sea, not to us and around us". This kind of understanding is only applicable to the residents of Jakarta and other cities that have a form of land like Jakarta like Bekasi. For the cities which have landforms like Madinah can recite the prayer because it was indeed recited by the Prophet when heavy rains and floods occurred in the Medina.