bluuebunny/crossref_metadata_2025_split huggingface dataset:
X-linked Alport Syndrome
Authors: JAIS JEAN PHILIPPE , KNEBELMANN BERTRAND , GIATRAS IANNIS , MARCHI MARIO DE , RIZZONI GIANFRANCO , RENIERI ALESSANDRA , WEBER MANFRED , GROSS OLIVER , NETZER KAI-OLAF , FLINTER FRANCES , PIRSON YVES , VERELLEN CHRISTINE , WIESLANDER JÖRGEN , PERSSON ULF , TRYGGVASON KARL , MARTIN PAULA , HERTZ JENS MICHAEL , SCHRÖDER CORNELIS , SANAK MAREK , KREJCOVA SARKA , CARVALHO MARIA FERNANDA , SAUS JUAN , ANTIGNAC CORINNE , SMEETS HUBERT , GUBLER MARIE CLAIRE 
Published: April 2021

Abstract.
Alport syndrome (AS) is a type IV collagen hereditary disease characterized by the association of progressive hematuric nephritis, hearing loss, and, frequently, ocular changes. Mutations in the COL4A5 collagen gene are responsible for the more common X-linked dominant form of the disease. Considerable allelic heterogeneity has been observed. A “European Community Alport Syndrome Concerted Action” has been established to delineate accurately the AS phenotype and to determine genotype-phenotype correlations in a large number of families. Data concerning 329 families, 250 of them with an X-linked transmission, were collected. Characteristics of the 401 male patients belonging to the 195 families with COL4A5 mutation are presented. All male patients were hematuric, and the rate of progression to end-stage renal failure and deafness was mutation-dependent. Large deletions, nonsense mutations, or small mutations changing the reading frame conferred to affected male patients a 90% probability of developing end-stage renal failure before 30 yr of age, whereas the same risk was of 50 and 70%, respectively, in patients with missense or splice site mutation. The risk of developing hearing loss before 30 yr of age was approximately 60% in patients with missense mutations, contrary to 90% for the other types of mutations. The natural history of X-linked AS and correlations with COL4A5 mutations have been established in a large cohort of male patients. These data could be used for further evaluation of therapeutic approaches.
The Maternity Leave and Cash Benefit Payment System for Readymade Garment (RMG) Sector of Bangladesh
Authors: Akter Salma 
Published: April 2021

Maternity leave means the period of paid absence from work. This type of leave is allowed to a mother before and after the birth of a child. Naturally, the term maternity benefit is applied in case of working women. Mostly, it is related to readymade garment (RDM). It indicates the payment made to a woman for giving birth of a child. The duration of maternity leave for female worker in RMG sector of Bangladesh is 4 months (16 weeks) according to Labor Act 2006. The purpose of this study is to show the application of RMG sector’s maternity leave and to assess the level of cash benefit payment for maternity leave. The main purpose of this study is to show the discrimination between two kinds of factories (foreign owned and local owned) about the proper application of rules and Act. The information collected from those who are experienced to take maternity leave and recently take the leave and also who are preparing for the leave.
Frequency distribution has been used on the data extracted from female worker who have experience maternity leave and cash benefit payment. The result of this study is that there are two kinds of RMG sectors situations: one is called foreigner owned factory and another one is Bangali factory (local owner).Evidently, 60% get the cash payment with two terms before & after child born and 100% get the maternity leave. So, this paper will discuss about the differences of facilities, job security, cash payment, others opportunities for female in RMG sector.
A Bird's Eye View: More-Than-Human Migrations
Authors: Lee Carol M. 
Published: April 2021

With a focus on bird migrations, this essay seeks to understand Derrida’s (2000) concept of hospitality and its corollary, the relationship between guest and host, in the more-than-human world. The essay begins by considering the implications of migratory movement on the more-than-human “hosts” residing in both summer and winter habitats. It then considers how, depending on one’s perspective, migratory bird populations might be considered both guests and hosts simultaneously in/of two locals, and yet also foreigners as they move out, through, and into various territories. I use this three-part paradox to tease out subtle distinctions toward an understanding of hospitality in relation to both humans and more-than-human contexts. This essay also draws on key related concepts from Deleuze and Guattari (1987) and uses Barad’s (2007) diffractive methodology to understand the intersection of hospitality and migration in more-than-human and human landscapes.
A clinical case of cystic fibrosis patient with pathogenic N1303K genotype variant with assessment of the CFTR channel function by intestinal current measurement and forskolin-induced swelling in rectal organoids
Authors: Kondratyeva E. I. , Odinaeva N. D. , Sherman V. D. , Efremova A. S. , Melyanovskaya Yu. L. , Bulatenko N. V. , Bukharova T. B. , Goldshtein D. V. 
Published: April 2021

Rationale: Cystic fibrosis is a common monogenic disease related to pathogenic nucleotide sequence variants in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) (ABCC7) gene. The CFTR gene consists of 27 exons and is located in the 31.1 region on the long arm of chromosome 7 (7q31.1). The use of the sequencing method has led to the accumulation of new information about the diversity of genetic variants in cystic fibrosis. This information is important considering approaches to the development of targeted therapy for the disease, based on an individual genotype. No targeted therapy has been developed for the N1303K class II genetic variant. The function of the chloride channel in this mutation has not been compared with that in class II mutations like F508del.Materials and methods: We have analyzed medical files of a patient with cystic fibrosis and F508del/N1303K CFTR genotypes, including the results of rectal biopsy samples. The assessments included measurement of the intestinal potential difference and forskolin-induced swelling assay (FIS) in rectal organoids, with the results being analyzed in relation to the clinical data.Results: The results of intestinal current measurements (ICM) confirm that the N1303K genetic variant is “severe” and leads to the loss of the working CFTR protein, which is consistent with the clinical manifestations. The mean short circuit currency density (ΔISC) in response to amiloride (sodium channel stimulation) was -39 ± 1.22 µA/cm2, to forskolin (chloride channel stimulation) 3.83 ± 1.43 µA/cm2, to carbachol 6 ± 2.47 µA/cm2, and to histamine 8.5 ± 3.02 µA/cm2.FIS results indicate that the VX-770 potentiator and the VX-809 corrector have a weak effect on the stimulation of organoids by forskolin in the genetic variant N1303K: organoid swelling was non-significant (about 20% from their baseline size).Conclusion: The use of the ICM method and FIS assay in human intestinal organoids makes it possible to quantify the work of the CFTR protein and determine the in vitro effectiveness of targeted therapy in patients with cystic fibrosis. CFTR modulators are ineffective in patients with N1303K mutation in the compound-heterozygous condition with F508del, despite both pathogenic variants belong to class II.
The prognostic role of aberrant copy number of <i>DDB1, PRPF19, CDKN1B, с-Myc</i> genes in ovarian cancer patients
Authors: Verenikina E. V. , Petrusenko N. A. , Kecheryukova M. M. 
Published: April 2021

Rationale: Ovarian cancer is the leading death cause in gynecological malignancies. More than 70% of the patients are diagnosed with progressing disease extending to outside the true pelvis. The 5-year survival of ovarian cancer patients remains low (about 47%) due to frequent relapses and drug resistance. Identification of markers for early diagnosis and relapse prediction could improve the outcomes of the disease.Aim: To assess relative copy number of cancer-associated genetic loci c-Myc, CDK12, CDKN1B, PRPF19, ERBB2, DDB1, GAB2, COL6A3 in the tumor cells of ovarian cancer, in order to identify potential prognostic oncomarkers in ovarian cancer patients.Materials and methods: The study included 50 women aged 27 to 70 years with ovarian cancer T1-3cN0-1M0-1, Gr. 2 (stages I—IV), who received their elective treatment in the National Medical Research Centre for Oncology in 2015 to 2019. The study was based on samples of genomic DNA from paraffinized blocks of tumor and “healthy” tissues. Relative copy numbers of 8 genetic loci (c-Myc, CDK12, CDKN1B, PRPF19, ERBB2, DDB1, GAB2, COL6A3) was assessed by RT-qPCR technique. Relative copy quantitation of a genetic locus was calculated as 2-ΔCt. The dose of the locus studied was considered equal to diploid set (2n) if RCQtumor/healthy was about 1. If RCQtumor/healthy was > 1.5 or < 0.5, then the locus dose was considered increased (≥ 3n) or decreased (≤ 1n), respectively.Results: For all genetic loci, an increase of relative copy quantitation in the ovarian tumor cells was observed compared to that in “healthy” tissues. There was a significant (р<0.05) aberrant copy quantitation of 4 genes: c-Myc (р = 0.001), DDB1 (р = 0.002), PRPF19 (р = 0.0001), and CDKN1B (р = 0.001). We identified differential thresholds for these genes that made it possible to predict an unfavorable disease course in the patients (р < 0.05). The strongest association with the risk of adverse outcomes was found for increased copy number of PRPF19 (odds ratio (OR) 7.3; р = 0.0001) and c-Myc (OR 6.8; р = 0.001).Conclusion: In this study, we determined the prognostic value of 4 oncogenic drivers, namely, DDB1, PRPF19, CDKN1B, and с-Myc, whose increased copy number was associated with an adverse disease prognosis in ovarian cancer patients.
Total Shoulder Arthroplasty Is Cost-Effective Compared with Hemiarthroplasty
Authors: Lapner Peter , Kumar Srishti , van Katwyk Sasha , Thavorn Kednapa 
Published: April 2021

Background:
Although outcome studies generally demonstrate the superiority of a total shoulder arthroplasty (TSA) over a hemiarthroplasty (HA), comparative cost-effectiveness has not been well studied. From a publicly funded health-care system’s perspective, this study compared the costs and quality-adjusted life-years (QALYs) in patients who underwent TSA with those in patients who underwent HA.

Methods:
We conducted a cost-utility analysis using a Markov model to simulate the costs and QALYs for patients undergoing either TSA or HA over a lifetime horizon to account for costs and medically important events over the patient lifetime. Subgroup analyses by age groups (≤50 or >50 years) were performed. A series of sensitivity analyses were performed to assess robustness of study findings. The results were presented in 2019 U.S. dollars.

Results:
TSA was dominant as it was less costly ($115,785 compared with $118,501) and more effective (10.21 compared with 8.47 QALYs) than HA over a lifetime horizon. Changes to health utility values after TSA and HA had the largest impact on the cost-effectiveness findings. At a willingness-to-pay (WTP) threshold of $50,000 per QALY gained, HA was not found to be cost-effective. The probability that TSA was cost-effective was 100%.

Conclusions:
Based on a WTP of $50,000 per QALY gained, from the perspective of Canada’s publicly funded health-care system, TSA was found to be cost-effective in all patients, including those ≤50 years of age, compared with HA.

Level of Evidence:
Economic and Decision Analysis Level II. See Instructions for Authors for a complete description of levels of evidence.
Causal Language in Observational Orthopaedic Research
Authors: Varady Nathan H. , Feroe Aliya G. , Fontana Mark Alan , Chen Antonia F. 
Published: April 2021

Abstract:
With the increasing availability of large clinical registries and administrative data sets, observational (i.e., nonexperimental) orthopaedic research is being performed with increased frequency. While this research substantially advances our field, there are fundamental limitations to what can be determined through a single observational study. Avoiding overstatements and misstatements is important for the sake of accuracy, particularly for ensuring that clinical care is not inadvertently swayed by how an observational study is written up and described. We have noticed that causal language is frequently misused in observational orthopaedic research—that is, language that says or implies that 1 variable definitively causes another, despite the fact that causation can generally only be determined with randomization. In this data-backed commentary, we examine the prevalence of causal language in a random sample of 400 observational orthopaedic studies; we found that causal language was misused in 60% of them. We discuss the implications of these results and how to report observational findings more accurately: the word “association” (and its derivatives) can almost always replace or reframe a causal phrase.
Gold and Porphyry Cu–Mo Mineralization of the Bumbat Ore Cluster and Its Relationship with the Early Paleozoic Magmatism of the Lake Zone (Western Mongolia)
Authors: Borisenko A.S. , Gas’kov I.V. , Babich V.V. , Borovikov A.A. 
Published: April 2021

Abstract
––Geological, mineralogical, and geochemical studies of copper and gold mineralization in the Bumbat ore district of Mongolia have shown its association with igneous rocks of different ages formed under different geodynamic, geologic, and geochemical conditions. Copper ore occurrences (site 98 and Altan Gadas site) with an age of 518.0 ± 4.9 Ma have similar mineralogical and geochemical features and seem to be related to plagiogranite-porphyry stocks formed at the late island arc stage (524.5 Ma). The ores were deposited from weakly concentrated solutions with a low content of СО2 at 240–230 °С under subsurface conditions. The association of mineralization with plagiogranites, its localization predominantly in veins, and its essentially copper composition, with high contents of Zn, Mn, Ba, and, in some samples, Ag and Bi, permit us to assign this mineralization to the vein quartz–sulfide type. Its commercial value has yet to be assessed. Gold mineralization of the Three Hills and Darvi sites formed later (455.9 ± 4.3 Ma), during the formation of the final granitoid phases at the accretion–collision stage (511–465 Ma). These sites are mineralized crushing zones composed of hydrothermally altered rocks of sericite–quartz composition with veinlet and disseminated (stockwork) sulfide mineralization and gold-bearing quartz veins. The content of gold in the ores varies from tenths to tens of ppm, and its fineness varies from 700 to 1000‰. The ores of both sites have high contents of Cu, Zn, Mn, Ba, and, in places, Mo. Mineralization formed from hydrothermal solutions with TDS = 9.5–12.0 wt.% NaCl eq. at medium temperatures (230–300 °C) under subsurface conditions. The above specific features of gold mineralization are typical of the flank zones of porphyry Cu–(Mo) deposits.
Challenging Issues of the Earth’s History and the Central Asian and Circum-Pacific Tectonics, Geodynamics, and Metallogeny (on the 85th Birthday of Academician Nikolai L. Dobretsov)
Authors: Shatsky V.S. , Metelkin D.V. 
Published: April 2021

Abstract
—This Special Issue celebrates the 85th birthday of Nikolai Leontievich Dobretsov, Full Member of the Russian Academy of Sciences. The opening paper presents a brief outline of the contributions related to the scientific interests of the hero, which, however, far transcend this limited scope. Hardly there is a field in geosciences where Nikolai Dobretsov would not leave a significant footprint. All over the course of his scientific carrier, he has been prolific in generating new ideas, which he shared generously with the colleagues and numerous disciples. Their papers published in this volume concern key issues of the deep structure and general evolution theory of the planet Earth, including various historic aspects of the geomagnetic field, its relation with the gravity field and with the periodicity of geologic processes, as well as global plate tectonics and plume activity through the Earth’s history. The problems of deep structure are discussed for the cases of the Central Asian Orogenic Belt and the magmatic system feeding the Kamchatka volcanoes. The volume is completed with several papers on metallogeny of the Central Asian orogen and the Russian Far East, especially gold mineralization, which was among principal subjects investigated by N. Dobretsov.
Silica Gel Fracturing Fluids an Alternative to Guar Systems that Allows the use of West Texas Produced Water
Authors: Harman Carl , McDonald Michael , Short Paul , Ott William 
Published: April 2021

Abstract
The use of freshwater, near freshwater, or treated water in hydraulic fracturing represents an ever-increasing cost in the Permian Basin. Environmental concerns add to the pressure to develop methods to use significantly higher volumes of produced water in hydraulic fracture fluids. To solve the challenge of viscosifying untreated, high total dissolved solids water a move was made away from organic-based viscosifiers to silica-based technology.
Fumed silica is highly effective as a viscosifier for high-density brines that has demonstrated excellent low-end rheology, exceptional suspending ability, and a nominal filter cake. However, the high cost of fumed silica and operational challenges have precluded commercial adoption. This paper describes thatsimilar rheology is achievable at a fraction of the cost using a silica gel.
The focus of the paper is on the field trials in West Texas where untreated produced water was viscosified with silica gel and run as alternatives to a standard 20 lb/Mgal crosslinked guar fluid made with fresh water. Low cost and operational efficiencies were obtained bypreparingthe silica gel on-location using standard and readily available hydraulic fracturing equipment. Procedures for making the silica gel-based frac fluid were similar to those of making a crosslinked guar fluid.
Field trials have demonstrated that silica-gel carries high loadings of 20/40 mesh sand even at low pump rates. Production data from the trials has varied from exceeding expectations to being similar to existing production results.On a chemical cost basis, silica gel is comparable to a borate-cross-linked guar frac fluid. The economics tip very much in favor of silica gel when factoring in the savings using untreated produced water.
Rapid Completion Design Changes with Fiber Optics
Authors: Tran John-Bosco , Mientka Matthew , Mogck Drew , Stark Price 
Published: April 2021

Abstract
One of the latest developments in permanent fiber optics is ability to install and complete a well in rapidly based on the needs of the program. This paper will present the drivers leading into the operation, the data collected and the completion advances resulting from a permanent fiber conceived and executed in under four weeks. Completion changes were conceived following direct observations of distribution of flow rate, defined in a Uniformity Index. The resulting changes were cost neutral to the overall program but showed improved completion results and well performance.
Ultra-Fast, Pad-Scale Modeling of Hydraulic Fracturing and Depletion for Optimizing Development Plans in the Eagle Ford Play
Authors: Dontsov Egor , Suarez-Rivera Roberto , Panse Rohit , Quinn Christopher , LaReau Heather , Suter Kirke , Hines Chris , Montgomery Ryan , Koontz Kyle 
Published: April 2021

Abstract
As the number of wells drilled in regions with existing producing wells increases, understanding the detrimental impact of these by the depleted zone around parent wells becomes more urgent and important. This understanding should include being able to predict the extent and heterogeneity of the depleted region near the pre-existing wells, the resulting altered stress field, and the effect of this on newly created fractures from adjacent child wells. In this paper we present a workflow that addresses the above concern in the Eagle Ford shale play, using numerical simulations of fracturing and reservoir flow, to define the effect of the depletion zone on child wells and match their field production data. We utilize an ultra-fast hydraulic fracture and depletion model to conduct several hundred numerical simulations, with varying values of permeability and surface area, seeking for cases that match the field production data. Multiple solutions exist that match the field data equally well, and we used additional field production data of parent-child well-interaction, to select the most plausible model. Results show that the depletion zone is strongly non-uniform and that large reservoir regions remain undepleted. We observe two important effects of the depleted zone on fractures from child wells drilled adjacent to the parents. Some fractures propagate towards low pressure zones and do not contribute to production. Others are repelled by the higher stress region that develops around the depletion zone, propagate into undepleted rock, and have production rates commensurate to that from other child wells drilled away from depleted region. The observations are validated by the field data. Results are being used to optimize well placement and well spacing for subsequent field operations, with the objective to increase the effectiveness of the child wells.
Vertical Growth of Hydraulic Fractures in Layered Formations
Authors: Pandey Vibhas J. , Rasouli Vamegh 
Published: April 2021

Abstract
Fracture growth in layered formations with depth-dependent properties has been a topic of interest amongst researchers because of its critical influence on well performance. This paper revisits some of the existing height-growth models and discusses the evaluation process of a new and modified model developed after incorporating additional constraints.The net-pressure is the primary driver behind fracture propagation and the pressure distribution in the fracture plays an important role in vertical propagation, as it supplies the necessary energy for fracture advancement in the presence of opposing forces. The workflow adopted for this study included developing a preliminary model that solves a system of non-linear equations iteratively to arrive at fracture height versus net pressure mapping. The theoretical results were then compared to those available in the literature. The solution set was then extended to a 100-layer model after incorporating additional constraints using superposition techniques.The predicted outcomes were finally compared to the fracture height observations made in the field on several treatments.
A reasonable agreement between model-predicted and observed height was observed when a comparison between the two was made, for most cases.The majority of these treatments were pumped in vertical wells, at low injection rates of up to 8.0 bbl/min (0.021 m3/s) where net pressures were intentionally restricted to 250 psi (1.72 MPa) in order to prevent fracture rotation to the horizontal plane.The leak-off was minimal given the low permeability formations. In some cases, however, the pumping parameters and fluid imparted pressure distribution appeared to dominate. Overall, it was apparent that for a slowly advancing fracture front, which is the case in low injection rate treatments, the fracture height could be predicted with reasonable accuracy. This condition could also be met in high rate treatments pumped down multiple perforation clusters such as in horizontal wells, though fracture-height measurement may not be as straightforward as in vertical wells.
The model developed under the current study is suitable for vertical wells where fracture treatments are pumped at low injection rates. The solid-mechanics solution that is presented here is independent of pumping parameters and can be readily implemented to assist in selection of critical design parameters prior to the job, with a wide range of applicability worldwide.