bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic variants in FH are associated with renal histopathologic subtypes of lupus nephritis: a large cohort study from China
Authors: Tan M , Hao J-b , Chu H , Wang F-m , Song D , Zhu L , Yu F , Li Y-z , Song Y , Zhao M-h 
Published: April 2017

Objective Genetic variants in FH (complement factor H) were reported to associate with susceptibility to systemic lupus erythematosus (SLE). This study proposed that the genetic defects of FH in the susceptibility and in the development of lupus nephritis might be different. Methods This study enrolled 334 lupus nephritis patients, 269 SLE patients without clinical renal involvement and 350 controls. Two-step genotyping was performed. First, all the exons of the FH gene were fully sequenced in 100 lupus nephritis patients and 100 healthy controls. Second, genotyping of three common variants reported to be functional, rs1061170, rs800292 and rs6677604, was conducted in all the recruited individuals. Further, analysis of their associations with SLE/lupus nephritis susceptibility and the clinico-pathological parameters in the lupus nephritis group was performed. Results No significant differences were observed in allele and genotype frequencies of the three single nucleotide polymorphisms between lupus patients and controls. There was a significantly higher ratio of CC/CT genotypes of rs1061170 in lupus nephritis patients with class III than in the other two classes (class III vs. class IV vs. class V: 21.0% vs. 9.7% vs. 9.4%; P = .044). The rs6677604-GG genotype was observed to be associated with the absence of anti-ds DNA antibody ( P = .021), and the rs800292-TT genotype was associated with a higher level of circulating C3 ( P = 0.20) in lupus nephritis. Conclusion In an independent cohort, this is the first genetic association analysis focusing on FH genetic variants in Chinese lupus nephritis patients. It was found that the variants in the FH gene might affect the histopathologic subtypes and some clinical features of the disease.
Telemedicine consultation for patients with diabetes mellitus: a cluster randomised controlled trial
Authors: Sood Ajay , Watts Sharon A , Johnson Julie K , Hirth Stacey , Aron David C 
Published: April 2017

Introduction There is a widening discrepancy between the increasing number of patients with diabetes mellitus and the health care resources available to manage these patients. Telemedicine has been used in a number of instances to improve and deliver health care where traditional care delivery methods may encounter difficulty. We conducted a cluster randomised controlled trial of telemedicine consultation to manage patients with diabetes mellitus. Methods Eleven primary care centres attached to one Veteran Administration tertiary care centre were randomised to provide patients with diabetes consultation referral either by usual consultation in diabetes clinic or telemedicine consultations via videoconference. Results Altogether, 199 patients were managed by telemedicine consultation and 83 by usual consultation. Patients in both groups showed a small decrease in haemoglobin A1c, with no statistical difference between the groups (telemedicine consultation −1.01% vs usual consultation −0.68%, p = 0.19). Surveys of patients and semi-structured interviews with primary care providers showed better response and satisfaction with telemedicine consultations. Discussion This study shows similar clinical outcomes as measured by glycaemic control for patients with diabetes mellitus having a specialist consultation using real-time telemedicine consultation as compared to in-clinic consultation. Telemedicine consultation was also associated with better patient and primary care provider satisfaction.
Morpho-syntactic properties of simultaneous bilingualism: Evidence from bilingual English-Turkish
Authors: Haznedar Belma 
Published: April 2017

Aims and Objectives/Purpose/Research Questions: A number of studies on the acquisition of non-null subject languages in child grammars have suggested that while overt subjects are mainly used with finite forms, null subjects co-occur with non-finite forms. The purpose of this study is to explore the proposed relationship between subject realization and verbal morphology in a simultaneous bilingual context. Design/Methodology/Approach: Longitudinal case study Data and Analysis: The present study analyses longitudinal data from an English-Turkish bilingual child (2;4–3;9), with special reference to the distribution of finite forms and the suppliance of overt subjects on the one hand, and subject drop and the use of non-finite forms, on the other. The English/Turkish data comprise 37 recordings collected regularly for nearly 18 months. Findings/Conclusions: English-Turkish bilingual data show that the majority of the overt subjects in the English language of the bilingual child occur both with inflected and uninflected verb forms. At a time the child has consistent and productive suppliance of overt subjects in his English, he uses uninflected verb forms with overt subjects, suggesting that the proposed association discussed in the literature does not necessarily hold. Moreover, around the same time the bilingual child’s Turkish presents robust evidence for the productive and systematic use of inflected forms as well as omission of subjects. Originality and significance/implications: These data, based on a less commonly studied language pair, English-Turkish, challenge previous research that postulates an association between overt subjects and finite forms versus null subjects and non-finite root forms. Overall, there appears to be a relationship between the acquisition of subject–verb agreement in the bilingual child’s Turkish and the correct suppliance of overt subjects in his English, suggesting language-particular devices for the realization of person deixis.
A Methodology to Compare Insulin Dosing Recommendations in Real-Life Settings
Authors: Groat Danielle , Grando Maria A. , Thompson Bithika , Neto Pedro , Soni Hiral , Boyle Mary E. , Bailey Marilyn , Cook Curtiss B. 
Published: April 2017

Background:We propose a methodology to analyze complex real-life glucose data in insulin pump users.Methods:Patients with type 1 diabetes (T1D) on insulin pumps were recruited from an academic endocrinology practice. Glucose data, insulin bolus (IB) amounts, and self-reported alcohol consumption and exercise events were collected for 30 days. Rules were developed to retrospectively compare IB recommendations from the insulin pump bolus calculator (IPBC) against recommendations from a proposed decision aid (PDA) and for assessing the PDA’s recommendation for exercise and alcohol.Results:Data from 15 participants were analyzed. When considering instances where glucose was below target, the PDA recommended a smaller dose in 14%, but a larger dose in 13% and an equivalent IB in 73%. For glucose levels at target, the PDA suggested an equivalent IB in 58% compared to the subject’s IPBC, but higher doses in 20% and lower in 22%. In events where postprandial glucose was higher than target, the PDA suggested higher doses in 25%, lower doses in 13%, and equivalent doses in 62%. In 64% of all alcohol events the PDA would have provided appropriate advice. In 75% of exercise events, the PDA appropriately advised an IB, a carbohydrate snack, or neither.Conclusions:This study provides a methodology to systematically analyze real-life data generated by insulin pumps and allowed a preliminary analysis of the performance of the PDA for insulin dosing. Further testing of the methodological approach in a broader diabetes population and prospective testing of the PDA are needed.
Altered mental status predicts mortality in cardiogenic shock – results from the CardShock study
Authors: Kataja Anu , Tarvasmäki Tuukka , Lassus Johan , Køber Lars , Sionis Alessandro , Spinar Jindrich , Parissis John , Carubelli Valentina , Cardoso Jose , Banaszewski Marek , Marino Rossella , Nieminen Markku S , Mebazaa Alexandre , Harjola Veli-Pekka 
Published: April 2017

Background: Altered mental status is among the signs of hypoperfusion in cardiogenic shock, the most severe form of acute heart failure. The aim of this study was to investigate the prevalence of altered mental status, to identify factors associating with it, and to assess the prognostic significance of altered mental status in cardiogenic shock. Methods: Mental status was assessed at presentation of shock in 215 adult cardiogenic shock patients in a multinational, prospective, observational study. Clinical picture, biochemical variables, and short-term mortality were compared between patients presenting with altered and normal mental status. Results: Altered mental status was detected in 147 (68%) patients, whereas 68 (32%) patients had normal mental status. Patients with altered mental status were older (68 vs. 64 years, p=0.04) and more likely to have an acute coronary syndrome than those with normal mental status (85% vs. 74%, p=0.04). Altered mental status was associated with lower systolic blood pressure (76 vs. 80 mmHg, p=0.03) and lower arterial pH (7.27 vs. 7.35, p<0.001) as well as higher levels of blood lactate (3.4 vs. 2.3 mmol/l, p<0.001) and blood glucose (11.4 vs. 9.0 mmol/l, p=0.01). Low arterial pH (adjusted odds ratio 1.6 (1.1–2.2), p=0.02) was the only factor independently associated with altered mental status. Ninety-day mortality was significantly higher (51% vs. 22%, p<0.001) among patients with altered mental status. Conclusions: Altered mental status is a common clinical sign of systemic hypoperfusion in cardiogenic shock and is associated with poor outcome. It is also associated with several biochemical findings that reflect inadequate tissue perfusion, of which low arterial pH is independently associated with altered mental status.
Impact of liver volume on polycystic liver disease-related symptoms and quality of life
Authors: Neijenhuis Myrte K , Kievit Wietske , Verheesen Stef MH , D’Agnolo Hedwig M , Gevers Tom JG , Drenth Joost PH 
Published: April 2017

Background Symptoms in polycystic liver disease (PLD) are thought to be caused by compression of organs and structures by the enlarged liver. Aim The aim of this article is to assess the impact of liver volume on symptoms and quality of life (QoL) in PLD. Methods We included PLD patients from two prospective studies that used the PLD-questionnaire (PLD-Q) for symptom assessment. QoL was assessed through SF-36, summarized in a physical (PCS) and mental (MCS) component score. Liver volume was correlated with PLD-Q total scores. Patients were classified based on height-corrected liver volume in mild (<1600 ml), moderate (1600–3200 ml), and severe (>3200 ml) disease. PLD-Q and QoL (PCS and MCS) scores were compared across disease stages. Results We included 82 of 131 patients from the original studies (disease stages; mild n = 26, moderate n = 33, and severe n = 23). Patients with larger liver volume reported higher symptom burden ( r = 0.516, p < 0.001). Symptom scores increased with disease progression, except for abdominal pain ( p = 0.088). PCS decreased with advancing disease ( p < 0.001), in contrast to MCS ( p = 0.055). Moderate ( p = 0.007) and severe ( p < 0.001) PLD patients had lower PCS scores than the general population. Conclusion PLD with larger liver volume is more likely to be symptomatic and is associated with lower QoL.
Modified supine percutaneous nephrolithotomy with combined fluoroscopy and ultrasound-guided renal puncture: Initial single-surgeon experience at a UK teaching hospital
Authors: Nkwam N , Khan MA 
Published: April 2017

Objective: The purpose of this article is to report the outcomes of our initial experience of performing percutaneous nephrolithotomy in the supine position using ultrasound guidance in addition to fluoroscopy for renal access. Patients and methods: The first 34 consecutive modified supine percutaneous nephrolithotomy cases performed by a single consultant urologist inserting their own percutaneous tracts using ultrasound-guidance and fluoroscopy were evaluated. Operative data was collected prospectively over a 10-month period including any complications. The stone-free rate was evaluated three months post-operatively with a plain film or non-contrast computed tomography of the kidneys, ureters and bladder. Results: Renal access was achieved in all 34 cases. Mean age was 57 years (19–82) with 14 males and 20 females. Mean stone size 37.2 mm (20–72 mm). Overall stone-free rate was 85.3% at a mean follow up of 11.2 months. There was one Clavien Grade I, and three Clavien Grade II complications of post-operative fever requiring treatment with intravenous antibiotics. No patients developed urosepsis, required blood transfusion or sustained any visceral injury. Median in-patient stay was one night (1–4). Conclusion: Modified supine percutaneous nephrolithotomy with combined fluoroscopy and ultrasound-guided renal access has a low incidence of complications allowing for short hospital stay.
Relationship Between the Lateral Center-Edge Angle and 3-Dimensional Acetabular Coverage
Authors: Wylie James D. , Kapron Ashley L. , Peters Christopher L. , Aoki Stephen K. , Maak Travis G. 
Published: April 2017

Background: The lateral center-edge angle (LCEA) is an important measurement in understanding acetabular morphology and has had multiple interpretations. Misunderstanding of the LCEA and its relationship with acetabular 3-dimensional (3D) morphology may result in misdiagnosis and poor outcomes. Purpose: To determine the discrepancy between bone-edge and sourcil-edge LCEA measurements on anteroposterior (AP) radiographs and to determine the 3D anatomic location of the sourcil-edge and bone-edge LCEA measurements. Study Design: Cohort study (diagnosis); Level of evidence, 2. Methods: The LCEA was measured on radiographs to both the sourcil-edge and bone-edge on AP images of 60 symptomatic hips. On computed tomography (CT), coronal slices producing an LCEA matching the magnitude of each AP LCEA were identified. These coronal slices were mapped to a sagittal image of the acetabulum, which was divided into a standard clockface (3 = anterior, 12 = superior). We identified clockface locations corresponding to the AP sourcil-edge and bone-edge LCEA measurements. Paired t tests identified differences in magnitude and location of the bone and sourcil LCEAs. Limits of agreement were calculated for the differences between measures. Intraclass correlation coefficients (ICCs) assessed inter- and intraobserver repeatability. Results: On the AP radiographs, the bone-edge LCEA was a mean 4.7° (95% CI, −4.0° to 13.3°) greater than the sourcil-edge LCEA ( P < .001). On CT, the sagittal clockface location of the sourcil-edge LCEA was more anterior compared with the sagittal clockface location of the maximum bone-edge LCEA (1:03 ± 0:42 vs 12:06 ± 0:30, respectively; P < .001). In hips with a difference >5° between sourcil-edge and bone-edge measurements, the coronal CT slice corresponding to the sourcil-edge LCEA was significantly more anterior (1:26 ± 0:35) than the CT slice corresponding to the bone-edge LCEA (11:46 ± 0:29; P < .001). This significant difference was similar in location but less pronounced in hips with a difference ≤5°: the sourcil-edge LCEA occurred at 12:50 ± 0:40, while the bone-edge LCEA occurred at 12:00 ± 0:11 ( P < .001). Interobserver repeatability was excellent for all LCEA and clockface location measurements (all ICCs >0.82). Conclusion: The sourcil-edge LCEA represents anterosuperior acetabular coverage while the bone-edge LCEA represents superior/lateral coverage. This information can be used in preoperative evaluation of and perioperative planning for hip preservation procedures.
What Collaborators Want: Planning, Monitoring and Evaluating Research Collaborations
Authors: Fisher N. I. , Peacock A. J. 
Published: April 2017

This article describes an approach to planning, monitoring and evaluating research collaborations based on a structured approach to eliciting and measuring the value that each partner seeks to derive from the collaboration. During the phase of formulating the collaborative arrangements, the process can bring clarity to the initial expectations of each partner and so, possibly avoid prospective difficulties from the outset. During the course of the collaboration, it provides a means of assessing where improvements in the relationship might be needed. And at the end of the project, it provides a basis for assessing what has worked well, and what might need to be considered carefully in a future collaboration. The process also provides a basis for benchmarking collaborative ventures, based on ratings associated with the critical drivers of successful partnerships. Part of the process is studied in the context of the formation of a collaboration relating to cyber security research.
Targetable kinase gene fusions in high-risk B-ALL: a study from the Children’s Oncology Group
Authors: Reshmi Shalini C. , Harvey Richard C. , Roberts Kathryn G. , Stonerock Eileen , Smith Amy , Jenkins Heather , Chen I-Ming , Valentine Marc , Liu Yu , Li Yongjin , Shao Ying , Easton John , Payne-Turner Debbie , Gu Zhaohui , Tran Thai Hoa , Nguyen Jonathan V. , Devidas Meenakshi , Dai Yunfeng , Heerema Nyla A. , Carroll Andrew J. , Raetz Elizabeth A. , Borowitz Michael J. , Wood Brent L. , Angiolillo Anne L. , Burke Michael J. , Salzer Wanda L. , Zweidler-McKay Patrick A. , Rabin Karen R. , Carroll William L. , Zhang Jinghui , Loh Mignon L. , Mullighan Charles G. , Willman Cheryl L. , Gastier-Foster Julie M. , Hunger Stephen P. 
Published: April 2017

Key Points
Ph-like ALL is characterized by a diverse array of genetic alterations activating cytokine receptor and tyrosine kinase signaling. Pediatric patients with Ph-like ALL can be identified in real time for effective treatment stratification.
Can histologic transformation of follicular lymphoma be predicted and prevented?
Authors: Kridel Robert , Sehn Laurie H. , Gascoyne Randy D. 
Published: April 2017

Abstract
Transformation to aggressive lymphoma is a critical event in the clinical course of follicular lymphoma (FL) patients. Yet, it is a challenge to reliably predict transformation at the time of diagnosis. Understanding the risk of transformation would be useful for guiding and monitoring patients, as well as for evaluating novel treatment strategies that could potentially prevent transformation. Herein, we review the contribution of clinical, pathological, and genetic risk factors to transformation. Patients with multiple clinical high-risk factors are at elevated risk of transformation but we are currently lacking a prognostic index that would specifically address transformation rather than disease progression or overall survival. From the biological standpoint, multiple studies have correlated individual biomarkers with transformation. However, accurate prediction of this event is currently hampered by our limited knowledge of the evolutionary pathways leading to transformation, as well as the scarcity of comprehensive, large-scale studies that assess both the genomic landscape of alterations within tumor cells and the composition of the microenvironment. Liquid biopsies hold great promise for achieving precision medicine. Indeed, mutations detected within circulating tumor DNA may be a better reflection of the inherent intratumoral heterogeneity than the biopsy of a single site. Last, we will assess whether evidence exists in the literature that transformation might be prevented altogether, based on the choice of therapy for FL.
Asymmetry in acute exacerbation of idiopathic pulmonary fibrosis
Authors: Sokai Akihiko , Tanizawa Kiminobu , Handa Tomohiro , Kubo Takeshi , Hashimoto Seishu , Ikezoe Kohei , Nakatsuka Yoshinari , Aihara Kensaku , Taguchi Yoshio , Muro Shigeo , Oga Toru , Nagai Sonoko , Izumi Takateru , Hirai Toyohiro , Chin Kazuo , Mishima Michiaki 
Published: April 2017

Acute exacerbation (AE) of idiopathic pulmonary fibrosis (IPF) results in poor survival. The objective of the present study was to elucidate the impact of asymmetrical ground-glass opacity (GGO) and/or consolidation on outcomes in patients with AE-IPF.The cases of 59 consecutive patients with AE-IPF were retrospectively reviewed. High-resolution computed tomography (HRCT) at diagnosis of an AE was assessed to determine the disease extent and asymmetry. Asymmetrical AE was defined as a right-to-left ratio of GGO and consolidation ≥2.0 or ≤0.5. The impacts of HRCT indices and other clinical parameters on 180-day mortality were analysed.The overall 180-day mortality rate was 59.2%, and asymmetrical AE was observed in 13 patients (22.0%). A multivariate analysis revealed that asymmetrical AE was a significant predictor of 180-day mortality (hazard ratio=0.36, p=0.047), long-term oxygen therapy before AE and serum lactate dehydrogenase levels. The 180-day mortality of patients with asymmetrical AE was significantly lower than that of patients with symmetrical AE (asymmetrical AE 30.8%versussymmetrical AE 68.2%, p=0.03).An asymmetrical distribution of GGO and/or consolidation is a predictor of survival in patients with AE-IPF.
Transcriptome profiling reveals expression signatures of cranial neural crest cells arising from different axial levels
Authors: Lumb Rachael , Buckberry Sam , Secker Genevieve , Lawrence David , Schwarz Quenten 
Published: April 2017

Abstract
Background
Cranial neural crest cells (NCCs) are a unique embryonic cell type which give rise to a diverse array of derivatives extending from neurons and glia through to bone and cartilage. Depending on their point of origin along the antero-posterior axis cranial NCCs are rapidly sorted into distinct migratory streams that give rise to axial specific structures. These migratory streams mirror the underlying segmentation of the brain with NCCs exiting the diencephalon and midbrain following distinct paths compared to those exiting the hindbrain rhombomeres (r). The genetic landscape of cranial NCCs arising at different axial levels remains unknown.

Results
Here we have used RNA sequencing to uncover the transcriptional profiles of mouse cranial NCCs arising at different axial levels. Whole transcriptome analysis identified over 120 transcripts differentially expressed between NCCs arising anterior to r3 (referred to as r1-r2 migratory stream for simplicity) and the r4 migratory stream. Eight of the genes differentially expressed between these populations were validated by RT-PCR with 2 being further validated by in situ hybridisation. We also explored the expression of the Neuropilins (Nrp1 and Nrp2) and their co-receptors and show that the A-type Plexins are differentially expressed in different cranial NCC streams.

Conclusions
Our analyses identify a large number of genes differentially regulated between cranial NCCs arising at different axial levels. This data provides a comprehensive description of the genetic landscape driving diversity of distinct cranial NCC streams and provides novel insight into the regulatory networks controlling the formation of specific skeletal elements and the mechanisms promoting migration along different paths.