bluuebunny/crossref_metadata_2025_split huggingface dataset:
Incomplete masculinisation of XX subjects carrying the SRY gene on an inactive X chromosome
Authors: Kusz Kamila , Kotecki Maciej , Wojda Alina , Szarras-Czapnik Maria , Latos-Bielenska Anna , Warenik-Szymankiewicz Alina , Ruszczynska-Wolska Anna , Jaruzelska Jadwiga 
Published: July 2022

46,XX subjects carrying the testis determining SRY gene usually have a completely male phenotype. In this study, five very rare cases of SRY carrying subjects (two XX males and three XX true hermaphrodites) with various degrees of incomplete masculinisation were analysed in order to elucidate the cause of sexual ambiguity despite the presence of the SRY gene. PCR amplification of 20 Y chromosome specific sequences showed the Yp fragment to be much longer in XX males than in true hermaphrodites. FISH analysis combined with RBG banding of metaphase chromosomes of four patients showed that in all three true hermaphrodites and in one XX male the Yp fragment was translocated onto a late replicating inactive X chromosome in over 90% of their blood lymphocytes. However, in a control classical XX male with no ambiguous features, the Yp fragment (significantly shorter than in the XX male with sexual ambiguity and only slightly longer than in XX hermaphrodites) was translocated onto the active X chromosome in over 90% of cells.These studies strongly indicate that inactivation on the X chromosome spreading into a translocated Yp fragment could be the major mechanism causing a sexually ambiguous phenotype in XX (SRY+) subjects.
Genetic analysis of the guanylate cyclase activator 1B (GUCA1B) gene in patients with autosomal dominant retinal dystrophies: Table 1
Authors: Payne Annette M , Downes Susan M , Bessant David A R , Plant Catherine , Moore Tony , Bird Alan C , Bhattacharya Shomi S 
Published: July 2022

The guanylate cyclase activator proteins (GCAP1 and GCAP2) are calcium binding proteins which by activating Ret-GC1 play a key role in the recovery phase of phototransduction. Recently a mutation in theGUCA1A gene (coding for GCAP1) mapping to the 6p21.1 region was described as causing cone dystrophy in a British family. In addition mutations in Ret-GC1have been shown to cause Leber congenital amaurosis and cone-rod dystrophy. To determine whether GCAP2 is involved in dominant retinal degenerative diseases, the GCAP2 gene was screened in 400 unrelated subjects with autosomal dominant central and peripheral retinal dystrophies.A number of changes involving the intronic as well as the coding sequence were observed. In exon 1 a T to C nucleotide change was observed leaving the tyrosine residue 57 unchanged. In exon 3 a 1 bp intronic insertion, a single nucleotide substitution G to A in the intron 3′ of this exon, and a GAG to GAT change at codon 155 were observed. This latter change results in a conservative change of glutamic acid to aspartic acid. In exon 4 a 7 bp intronic insertion, a single nucleotide A to G substitution in the intron 5′ of this exon, and a single base pair change C to G in the intron 3′ of exon 4 were seen. None of these changes would be expected to affect correct splicing of this gene. All these changes were observed in controls. The results of this study do not show any evidence so far that GCAP2 is involved in the pathogenesis of autosomal dominant retinal degeneration in this group of patients. All the changes detected were found to be sequence variations or polymorphisms and not disease causing.
Mapping access to endovascular stroke care in the USA and implications for transport models
Authors: Aldstadt Jared , Waqas Muhammad , Yasumiishi Misa , Mokin Maxim , Tutino Vincent M , Rai Hamid H , Chin Felix , Levy Bennett R , Rai Ansaar T , Mocco J , Snyder Kenneth V , Davies Jason M , Levy Elad I , Siddiqui Adnan H 
Published: July 2022

BackgroundThe purpose of this cross-sectional study was to determine the percentage of the US population with 60 min ground or air access to accredited or state-designated endovascular-capable stroke centers (ECCs) and non-endovascular capable stroke centers (NECCs) and the percentage of NECCs with an ECC within a 30 min drive.MethodsStroke centers were identified and classified broadly as ECCs or NECCs. Geographic mapping of stroke centers was performed. The population was divided into census blocks, and their centroids were calculated. Fastest air and ground travel times from centroid to nearest ECC and NECC were estimated.ResultsOverall, 49.6% of US residents had 60 min ground access to ECCs. Approximately 37.7% (113 million) lack 60 min ground or air access to ECCs. Approximately 84.4% have 60 min access to NECCs. Ground-only access was available to 77.9%. Approximately 738 NECCs (45.4%) had an ECC within a 30 min drive.ConclusionNearly one-third of the US population lacks 60 min access to endovascular stroke care, but this is highly variable. Transport models and planning of additional centers should be tailored to each state depending on location and proximity of existing facilities.
Fast and slow progressors of infarct growth in basilar artery occlusion strokes
Authors: Desai Shashvat M , Tonetti Daniel A , Jovin Tudor G , Jadhav Ashutosh P 
Published: July 2022

BackgroundHeterogeneity in the infarct growth rate among anterior circulation large vessel occlusion (LVO) strokes has triage and treatment implications. Such data are lacking for basilar artery occlusion (BAO) strokes. We aim to describe the variability in brainstem infarct volume at presentation and compute the distribution of the infarct growth rate (IGR) and rate of loss of neurons during BAO strokes.MethodsA retrospective review of consecutive patients with BAO stroke with pretreatment MRI was performed. Ischemic core volume was manually calculated (product of slice thickness and sum of area of region of interests) for the brainstem lesion. The distribution of various brainstem infarct volume groups was analyzed and the IGR (including rate of loss of neurons) was computed.ResultsFifty-nine patients were included. Mean age was 64±13 and 34% were men. Mean National Institutes of Health Stroke Scale score was 20±11 and time to MRI was 9±5 hours. Mean brainstem ischemic core volume was 4.5±4.6 mL. According to predefined thresholds, 13% and 6% of patients with BAO stroke in the 0–6 hour time window were fast (5–10 mL) and ultra-fast progressors (>10 mL), respectively, and 14% of patients in the 6–24 hour time window were slow progressors (<1 mL). Median and mean rate of loss of neurons was 146 300 neurons/min and 261 300 (±400 000) neurons/min, respectively, and ranged from <19 400 to >2.12 million.ConclusionApproximately 14% of BAO strokes are slow progressors and 19% are fast/ultra-fast progressors, with the rate of loss of neurons ranging from <19 000 to >2.1 million/min. Large heterogeneity exists in brainstem infarct volume at presentation and IGR among patients with BAO stroke.
OPTIMIZATION OF PROCESS PARAMETERS FOR THE A-TIG WELDING OF INCONEL 617 USING PARTICLE SWARM OPTIMIZATION AND GENETIC ALGORITHM
Authors: KUMAAR S. SENTHIL , KORRA NANDA NAIK , DEVAKUMARAN K. , KUMAR K. GANESH 
Published: July 2022

Inconel 617 alloy has been included in the boiler and pressure vessel (BPV) code of the American society of mechanical engineers (ASME) for its effectiveness in nuclear applications due to its ability to maintain strength at elevated temperatures. This study is based on the optimization of process parameters for activated flux tungsten inert gas (A-TIG) welding of 10-mm thick Inconel 617 material. Process parameters considered in this study include weld current (A), weld torch travel speed (mm/min), arc gap (mm) and flux powder (silicon dioxide (SiO[Formula: see text] and titanium dioxide (TiO[Formula: see text] combination. The bead on plate welding experiment was carried out by varying the combination of process parameters in each experimental trial. The Taguchi L16 orthogonal array was the design matrix used for the design of experiments (DOE). In the bead on plate welding experiment, a total of 16 experimental trials, each having a different set of process parameters was conducted. The weld bead samples corresponding to each trial were prepared for measurement of the responses which were measured from each of the 16 weld bead samples and included depth of penetration (DOP), bead width (BW), depth to width ratio (DWR), weld cross-sectional area (WA), and bead height (BH). The objective of this work was to maximize DOP, DWR, WA, BH and minimize BW. Analysis of variance (ANOVA) was used to identify the significance of process parameters. Optimization techniques including particle swarm optimization (PSO) and genetic algorithm (GA) were used in the study. The optimized process parameters and optimal solutions attained from each optimization technique were compared. It was found from the study that weld current was the most significant process parameter for all responses followed by weld torch travel speed, flux powder combination and arc gap. Optimal process parameters to achieve maximum DOP, DWR and WA were found to be weld current of 290 A, weld torch travel speed of 50[Formula: see text]mm/min along with an arc gap of 1[Formula: see text]mm and 100% TiO2 as flux. The optimal solution for DOP, DWR and WA was found to be 7.04[Formula: see text]mm, 0.437 and 7.619[Formula: see text]mm2 respectively. The optimal solution for BW and BH was 6.302 and 0.677[Formula: see text]mm, respectively. A confirmation test was conducted to validate the optimal solution obtained from this study. The results from the confirmation test agreed with the solution obtained by optimization techniques.
Auditor Legal Liability and Stock Price Crash Risk: Evidence from Organizational Transformation of Chinese Audit Firms
Authors: Chu Jian , Weng Chia-Hsiang 
Published: July 2022

Synopsis The research problem This study examines whether and how the increase in auditors’ legal liability affects their clients’ stock price crash risk. Motivation Previous studies have shown that auditors have the incentive to reduce potential litigation risk by improving clients’ financial reporting quality, which in turn limits their clients’ ability to withhold bad news; however, the literature does not provide direct evidence on the relationship between auditor litigation risk and client crash risk. Besides, most studies have focused on auditors’ impact on clients’ financial statements but seldom have investigated auditors’ impact on clients’ other information-disclosure channels. This study attempts to provide evidence showing that auditor legal liability could indirectly affect clients’ crash risk by influencing clients’ conservatism in accounting practices and optimism in information disclosure. The test hypotheses H1: Clients experience declines in future stock price crash risk after their auditors change from the limited liability company (LLC) form to the limited liability partnership (LLP) form. H2: After changing to the LLP form, auditors enhance clients’ accounting conservatism and decrease clients’ optimism in management earnings forecasts and MD&A disclosures, thereby lowering clients’ future stock price crash risk. Target population This study should be of interest to auditors, firm managers, investors, and policy makers. Adopted methodology We adopted Ordinary Least Squares (OLS) regressions and path analysis. Analyses We utilized the staggered organizational transformation of Chinese audit firms — i.e., from LLCs to LLPs — to identify the increase in auditors’ legal liability. Using a sample of Chinese public-listed firms, we performed cross-sectional regressions to examine how clients’ crash risk changes after their auditors transform to LLPs. Next, we conducted a path analysis to show how auditor litigation risk affected client crash risk. Findings We found that after auditors transform into LLPs, their clients demonstrate lower crash risk. We further found that accounting conservatism, optimism in management earnings forecasts, and optimism in management discussion and analysis (MD&A) disclosures explained the negative relationship between auditor legal liability and client crash risk.
Lessons Learned From a Patient‐Centered, Team‐Based Intervention for Patients With Type 2 Diabetes at High Cardiovascular Risk: Year 1 Results From the CINEMA Program
Authors: Neeland Ian J. , Al‐Kindi Sadeer G. , Tashtish Nour , Eaton Elke , Friswold Janice , Rahmani Sara , White‐Solaru Khendi T. , Rashid Imran , Berg Diamond , Rana Mariam , Sullivan Claire , Hatipoglu Betul , Pronovost Peter , Rajagopalan Sanjay 
Published: July 2022

Background
The care for patients with type 2 diabetes necessitates a multidisciplinary team approach to reduce cardiovascular risk, but implementation of effective integrated strategies has been limited.

Methods and Results

We conceptualized and initiated a patient‐centered, team‐based intervention called Center for Integrated and Novel Approaches in Vascular‐Metabolic Disease (CINEMA) at University Hospitals Cleveland Medical Center. Patients with type 2 diabetes at high risk for cardiovascular events, including those with established atherosclerotic cardiovascular disease, elevated coronary artery calcium score >100, chronic heart failure with reduced ejection fraction, and/or chronic kidney disease stages 2 to 4 were included. Herein, we present the year 1 results for the program. From May 2020 through August 2021, there were 417 referrals. Among 206 eligible patients, 113 (55%) completed a baseline and ≥1 follow‐up visit through December 2021, with mean (SD) time of 105 (34) days between baseline and first follow‐up visits. Mean age was 59 years, with 49% women and 37% Black patients. Patients had significant reductions from baseline in glycosylated hemoglobin (−10.8%), total cholesterol (−7.9%), low‐density lipoprotein cholesterol (−13.5%), systolic blood pressure (−4.0%), and body mass index (−2.7%) (
P
≤0.001 for all). In addition, among the 129 (63%) eligible patients not on sodium‐glucose cotransporter 2 inhibitor or glucagon‐like peptide‐1 receptor agonist at baseline, 81% were prescribed evidence‐based therapy with sodium‐glucose cotransporter 2 inhibitor (n=66 [51%]) and/or glucagon‐like peptide‐1 receptor agonist (n=67 [52%]) to reduce the risk of cardiovascular disease in the initial 3‐month follow‐up period.

Conclusions
A team‐based, patient‐centered approach to high‐risk disease management appears to be a promising paradigm for care delivery associated with greater use of evidence‐based therapies and improved control of multiple cardiovascular risk factors.
Genetic Evidence for a Causal Role of Serum Phosphate in Coronary Artery Calcification: The Rotterdam Study
Authors: Campos‐Obando Natalia , Bosman Ariadne , Kavousi Maryam , Medina‐Gomez Carolina , van der Eerden Bram C. J. , Bos Daniel , Franco Oscar H. , Uitterlinden André G. , Zillikens M. Carola 
Published: July 2022

Background
Hyperphosphatemia has been associated with coronary artery calcification (CAC) mostly in chronic kidney disease, but the association between phosphate levels within the normal phosphate range and CAC is unclear. Our objectives were to evaluate associations between phosphate levels and CAC among men and women from the general population and assess causality through Mendelian randomization.

Methods and Results

CAC, measured by electron‐beam computed tomography, and serum phosphate levels were assessed in 1889 individuals from the RS (Rotterdam Study). Phenotypic associations were tested through linear models adjusted for age, body mass index, blood pressure, smoking, prevalent cardiovascular disease and diabetes, 25‐hydroxyvitamin D, total calcium, C‐reactive protein, glucose, and total cholesterol : high‐density lipoprotein cholesterol ratio. Mendelian randomization was implemented through an allele score including 8 phosphate‐related single‐nucleotide polymorphisms. In phenotypic analyses, serum phosphate (per 1 SD) was associated with CAC with evidence for sex interaction (
P
interaction
=0.003) (men β, 0.44 [95% CI, 0.30–0.59];
P
=3×10
−9
; n=878; women β, 0.24 [95% CI, 0.08–0.40];
P
=0.003; n=1011). Exclusion of hyperphosphatemia, chronic kidney disease (estimated glomerular filtration rate <60 mL/min per 1.73 m
2
) and prevalent cardiovascular disease yielded similar results. In Mendelian randomization analyses,
instrumented
phosphate was associated with CAC (total population β, 0.93 [95% CI: 0.07–1.79];
P
=0.034; n=1693), even after exclusion of hyperphosphatemia, chronic kidney disease and prevalent cardiovascular disease (total population β, 1.23 [95% CI, 0.17–2.28];
P
=0.023; n=1224).

Conclusions

Serum phosphate was associated with CAC in the general population with stronger effects in men. Mendelian randomization findings support a causal relation, also for serum phosphate and CAC in subjects
without
hyperphosphatemia, chronic kidney disease, and cardiovascular disease. Further research into underlying mechanisms of this association and sex differences is needed.
Usefulness of B‐Type Natriuretic Peptide for Predicting the Risk of Stroke in Patients With Heart Failure With Preserved Ejection Fraction
Authors: Liu Xiao , Abudukeremu Ayiguli , Yu Peng , Cao Zhengyu , Sun Runlu , Wu Maoxiong , Chen Zhiteng , Ma Jianyong , Zhu Wengen , Chen Yangxin , Zhang Yuling , Wang Jingfeng 
Published: July 2022

Background
B‐type natriuretic peptide (BNP) is a well‐known biomarker for prognosis in heart failure with patients with preserved ejection fraction. However, the clinical predictive ability of BNP for the risk of stroke in HFpEF is not clear.

Methods and Results

A total of 799 patients with HFpEF from the TOPCAT (Treatment of Preserved Cardiac Function Heart Failure With an Aldosterone Antagonist) trial were included. Association of baseline BNP with risk of stroke was assessed using the Cox proportional hazard model. The discriminatory ability of BNP was expressed using the C index. The improvement in 5‐year stroke prediction was assessed by C statistic, categorical net reclassification improvement index, and relative integrated discrimination improvement. A total of 34 (4.3%) patients among the 799 patients with HFpEF experienced stroke events over a median of 2.85 years of follow‐up. The stroke group showed a higher BNP level than the nonstroke group (375 pg/mL versus 241 pg/mL, respectively;
P
=0.006). Higher BNP levels were associated with increased risk of stroke after multivariable adjustment (hazard ratio, 3.29 [95% CI, 1.51–7.16]) and had a moderate performance for stroke prediction (C index, 0.67). Adding BNP to CHADS
2
/CHA
2
DS
2
‐VASc/R
2
CHADS
2
scores improved their predictive value for stroke (CHADS
2
: C index, 0.67; BNP+CHADS
2
: C index, 0.77; net reclassification improvement, 40.9%; integrated discrimination improvement, 3.0%; CHA
2
DS
2
‐VASc: C index, 0.64; BNP+CHA
2
DS
2
‐VASc: C index, 0.74; net reclassification improvement, 41.4%; integrated discrimination improvement, 2.2%; R
2
CHADS
2
: C index, 0.70; BNP+R
2
CHADS
2
: C index, 0.78; net reclassification improvement, 40.9%; integrated discrimination improvement, 3.2%).

Conclusions
BNP is associated with an increased risk of stroke in patients with HFpEF and may be a valuable biomarker for stroke prediction in HFpEF.
Rethinking Land Reform and Its Contribution to Livelihoods in South Africa
Authors: Rusenga Clemence 
Published: July 2022

Abstract
Land reform in South Africa has been criticised for its failure to significantly improve beneficiaries’ livelihoods. Among the reasons is the government’s stubborn enforcement of large-scale farming on land reform projects. This article presents the experiences of land reform beneficiaries on a single case farm in Limpopo Province, confirming, on one hand, that indeed the capital-intensive model of production negatively affects their production and livelihoods. On the other, the article shows that where alternative land uses are introduced, even alongside large-scale farming, land contributes to beneficiaries’ livelihoods. The article argues that a nuanced analysis that goes beyond the narrow commercial and econometric value of land, to include its social value, allows us to comprehend the full extent of land’s contribution to rural livelihoods in South Africa.
Populist Diaspora Engagement
Authors: Böcü Gözde , Panwar Nidhi 
Published: July 2022

Abstract
How and why do right-wing populist parties engage in diaspora outreach? This article uses populism as a lens through to study diaspora engagement, and compares strategies used by right-wing parties in power (Turkey’s AKP and India’s BJP) to access their diasporas. While we find that polarising and civilisationist discourses are adopted in both cases for uniting the diaspora behind the populist in power, we argue that these strategies are implemented for different purposes. In the Turkish case, the promotion of Turkish and Sunni-Muslim identification serves the purpose of garnering electoral support behind the ruling party, while in the Indian case, identification with Hindutva is used to achieve the financial and developmental goals of the ruling party. By comparing outreach strategies through the analysis of policies and practices employed by the parties as well as the activities of their diasporic organisations, the article contributes to debates on party-led diaspora engagement.
Migration, Discrimination and Assimilation in the State of Israel
Authors: Rajan Kadanthodu Suraj 
Published: July 2022

Abstract
The coalescence of Jews from across the world to form a unified Jewish nation-state has been the dream of many Jewish and Zionist leaders. With the gathering of immigrants after the State of Israel was established, the founders strived for a ‘fusion of exiles’ (mizug hagaluyot), where individual migrant cultural identities would assimilate to form a new Israeli identity that was predominantly European. Though the idea of a ‘New State’ appealed to Indian Jews, the promises that were made before they migrated from India did not materialise once they arrived in Israel, and they had to undergo several challenges, including discrimination based on colour and ethnicity, thus delaying their assimilation within Israeli society. This paper tries to understand the migration patterns of the Bene Israeli and Cochin Jewish communities and the prejudices enforced by the Israeli government and its agencies on them, which challenged their integration into mainstream Israeli society.
Exploring human factors of wildlife conservation along a forest gap using a participatory design-build canopy bridge
Authors: Fan Yibo , Lindshield Stacy 
Published: July 2022

Abstract
This paper reports the social-cultural findings from building an artificial canopy bridge for mantled howler monkeys (Alouatta palliata) and other arboreal mammals in Puerto Viejo, Costa Rica. We analyzed participatory observation results from participatory designing and building, and camera trap data from monitoring the bridge. This article also discusses how local perceptions towards monkeys, regional developments, and bridge functions inform primate conservation in that region. It examines a broader primate conservation strategy that addresses entangled values and bridge design in a human-centered, peri-urban, and coastal evergreen forest. We found that artificial canopy bridge design is a complex problem related to humans and targeted species. Connecting habitat with artificial canopy bridges in this context is part of a more significant urban planning problem. Bridge material and design are related to animal usage and existing infrastructure and can shape public views that build or jeopardize public trust.