bluuebunny/crossref_metadata_2025_split huggingface dataset:
A novel missense mutation of CRYBB1 causes congenital cataract in a Chinese family
Authors: Ji Yanan , Zhao Xiangyu , Zhang Juanmei , Zhang Dan , Tian Chunliu , Zhang Linlin , Zhao Youcai , Zhao Jun 
Published: March 2020

Objective of the study: To identify the pathogenic gene and mutation site of a Chinese family with congenital cataract. Methods: Eight family members and 100 controls were employed, and targeted exome sequencing was used to identify the genetically pathogenic factor of the proband. Results: Targeted next-generation sequencing identified a novel missense mutation c.209A>C (p.Q70P) of CRYBB1 gene in the family. Sanger sequencing results showed that this heterozygous mutation was a causative mutation, which was not found in unaffected family members and healthy controls. Bioinformatics predicts that the effect of this mutation on protein function is probably harmful. Conclusion: We demonstrate that c.209A>C of CRYBB1 gene is a pathogenic mutation in the family of congenital nuclear cataract in this study. This is the first report that this mutation leads to congenital nuclear cataract, which broadens the mutation spectrum of CRYBB1 gene in congenital nuclear cataract.
Dementia awareness, beliefs and barriers among family caregivers in Pakistan
Authors: Balouch Sara , Zaidi Asghar , Farina Nicolas , Willis Rosalind 
Published: March 2020

Objectives Dementia research and services in Pakistan are limited. The following was explored in experiences of family caregivers of people with dementia in Pakistan: (a) to determine whether culture and religion play a role in caregiving; (b) to draw insights on how family caregivers cope, what barriers they face and what help they would be willing to accept and (c) to determine how these findings could be used to raise awareness and influence public policies in improving the lives of families living with dementia. Methods The experiences of family caregivers of people with dementia in Pakistan were explored via semi-structured interviews (10 in Lahore; 10 in Karachi). This was part of a larger qualitative study conducted about dementia in Pakistan. Caregivers interviewed were aged 35–80 (14 female). Most caregivers in the study were educated and affluent. Interviews were conducted in Urdu, translated into English and thematically analysed. Results Five themes emerged: knowledge and awareness; stigma; importance of religion and duty to care; use of day care centres and home-help; and barriers. A lack of dementia awareness exists in Pakistan. The religious duty to care for family influenced caregiving decisions. Day care centres and home-help were accessed and viewed positively. The caregivers also wanted extracurricular activities for people with dementia, support groups for caregivers and better training for healthcare staff. Novel findings included that caregivers felt that dementia should not be stigmatised, and awareness should be raised in Pakistan via TV, radio and social media, but not inside mosques. Discussion Additional research is necessary to determine if positive views of day care centres and home-help exist more widely. Attitudes and experiences regarding stigma may be different for caregivers of people with more advanced dementia. We recommend raising dementia awareness, allocating more funds to dementia services and an emphasis on home-based care.
Inhibition of myeloperoxidase increases revascularization and improves blood flow in a diabetic mouse model of hindlimb ischaemia
Authors: Weihrauch Dorothee , Martin Dustin P , Jones Deron , Krolikowski John , Struve Janine , Naylor Stephen , Pritchard Kirkwood A 
Published: March 2020

Objective: Diabetes mellitus is a significant risk factor for peripheral artery disease. Diabetes mellitus induces chronic states of oxidative stress and vascular inflammation that increase neutrophil activation and release of myeloperoxidase. The goal of this study is to determine whether inhibiting myeloperoxidase reduces oxidative stress and neutrophil infiltration, increases vascularization, and improves blood flow in a diabetic murine model of hindlimb ischaemia. Methods: Leptin receptor–deficient ( db/db) mice were subjected to hindlimb ischaemia. Ischaemic mice were treated with N-acetyl-lysyltyrosylcysteine-amide (KYC) to inhibit myeloperoxidase. After ligating the femoral artery, effects of treatments were determined with respect to hindlimb blood flow, neutrophil infiltration, oxidative damage, and the capability of hindlimb extracellular matrix to support human endothelial cell proliferation and migration. Results: KYC treatment improved hindlimb blood flow at 7 and 14 days in db/db mice; decreased the formation of advanced glycation end products, 4-hydroxynonenal, and 3-chlorotyrosine; reduced neutrophil infiltration into the hindlimbs; and improved the ability of hindlimb extracellular matrix from db/db mice to support endothelial cell proliferation and migration. Conclusion: These results demonstrate that inhibiting myeloperoxidase reduces oxidative stress in ischaemic hindlimbs of db/db mice, which improves blood flow and reduces neutrophil infiltration such that hindlimb extracellular matrix from db/db mice supports endothelial cell proliferation and migration.
Relationship of Nurse-Led Education Interventions to Liver Transplant Early Readmission
Authors: Dols Jean Dowling , Chargualaf Katie A. , Gordon Amy , Pomerleau Theresa , Mendoza Anna , Schwarzbach Clare , Gonzalez Marcela 
Published: March 2020

Introduction: Early hospital readmission following liver transplantation is associated with lower survival and worse long-term graft function. Language, cultural practices, and health literacy influence patient understanding of posttransplant care education. Complex medication regimes, changes in metabolism and nutrition absorption, and infection/rejection further complicate the prevention of readmission. Purpose: The purpose of this study was to compare the 30-day readmissions of single-organ liver transplant recipients for 1-year prior and 1-year following the implementation of nurse-led education. The study examined the demographics, clinical characteristics, and 30-day readmissions of 35 liver transplant recipients who participated in the newly designed nurse-led education and 51 liver transplant recipients who experienced the prior post-liver transplant education. Design: A single-center, correlational study with a convenience sample was conducted at a Hispanic-serving South Texas hospital. The new education intervention maintained the standard education and added twice-daily mutual patient-focused goal setting between the nurse and the recipient that aligned with readiness for discharge activities/goals, structured education using abbreviated handouts written at a second-grade level available in both English and Spanish, and the use of repetition through multimodal methods. Results: The odds for 30-day readmissions the year prior to the nurse-led patient education intervention were 2.088 times greater than the year following the implementation. Thirty-day readmissions were reduced by 16.3% from the 2017 cohort to the 2018 cohort. Discussion: Understanding unique risk factors facilitates structured patient education which can be individualized to the patient and caregiver including collaborative nurse–patient goals.
Vitamin D deficiency and total shoulder arthroplasty complications
Authors: Smith J Michael , Cancienne Jourdan M , Brockmeier Stephen F , Werner Brian C 
Published: March 2020

Introduction The primary objective of this study was to examine the relationship between vitamin D deficiency and implant-related and medical complications following total shoulder arthroplasty. Methods Using the PearlDiver database, patients who underwent total shoulder arthroplasty from 2005 to 2016 with vitamin D deficiency were identified. These were compared to a 3:1 control group matched by age, sex, and presence of a concomitant osteoporosis diagnosis. Primary outcome measures were implant-related complications (loosening, periprosthetic fracture, periprosthetic joint infection, and revision total shoulder arthroplasty) in addition to medical complications within 90 days of surgery. A multivariable logistic regression analysis was utilized to control for patient demographics and comorbidities. Results One thousand and six hundred and seventy-four patients with vitamin D deficiency were identified and compared to 5022 controls. There was a significantly higher rate of revision total shoulder arthroplasty in the vitamin D deficient patients compared to controls (2.3% versus 0.8%, odds ratio 3.3, p < 0.0001). After controlling for confounding variables, there were no significant differences in any of the remaining implant-related or medical complications with the exception of higher rates of urinary tract infections in patients with vitamin D deficiency. Conclusions Vitamin D deficiency is associated with a higher rate of all-cause revision total shoulder arthroplasty but not medical complications compared to controls. Level of evidence: Level III case control study
Rivaroxaban plus aspirin for the prevention of ischaemic events in patients with cardiovascular disease: a cost-effectiveness study
Authors: Petersohn Svenja , Pouwels Xavier , Ramaekers Bram , ten Cate-Hoek Arina , Joore Manuela 
Published: March 2020

BackgroundDual pathway inhibition with 2.5 mg rivaroxaban twice daily plus 100 mg aspirin once daily may be a promising alternative to 100 mg aspirin antiplatelet therapy for the prevention of cardiovascular events in patients with coronary artery disease and/or peripheral arterial disease. However, treatment costs and bleeding risks are higher, and there is another treatment option for peripheral arterial disease, 75 mg clopidogrel. A comprehensive assessment of benefits, risks and costs of dual pathway inhibition versus standard of care is needed.MethodsWe used a state transition model including cardiovascular, ischaemic limb and bleeding events to compare dual pathway inhibition to aspirin antiplatelet therapy in coronary artery disease, and additionally to clopidogrel antiplatelet therapy in peripheral arterial disease patients. We calculated the incremental cost-effectiveness ratio from costs and quality-adjusted life-years of lifelong treatment, and the cost-effectiveness probability at a €50,000/quality-adjusted life-year threshold.ResultsQuality-adjusted life-years and costs of dual pathway inhibition were highest, the incremental cost-effectiveness ratios versus aspirin were €32,109 in coronary artery disease and €26,381 in peripheral arterial disease patients, with 92% and 56% cost-effectiveness probability, respectively (clopidogrel was extendedly dominated). Incremental cost-effectiveness ratios were below €20,000 in comorbid peripheral arterial disease patients and coronary artery disease patients younger than 65 years, incremental cost-effectiveness ratios were above €50,000 in carotid artery disease patients and coronary artery disease patients older than 75 years.ConclusionLifelong preventive treatment of coronary artery disease and peripheral arterial disease patients at risk of cardiovascular events with dual pathway inhibition improves health outcomes and seems overall cost-effective relative to aspirin antiplatelet therapy and also to clopidogrel antiplatelet therapy for peripheral arterial disease, particularly in comorbid patients, but not in older patients and in carotid artery disease patients. These findings may warrant a targeted approach.
Authorship growth in contemporary medical literature
Authors: An Julie Y , Marchalik Rachel J , Sherrer Rachael L , Baiocco Joseph A , Rais-Bahrami Soroush 
Published: March 2020

Objectives: The aims of this study were to investigate authorship trends among publications in high-impact, peer-reviewed specialty journals published within the last decade and to assess how publication practices differ among medical specialties. Methods: The National Institutes of Health’s Portfolio Analysis platform, iCite, was queried for PubMed-indexed case reports, review articles, and original research articles published between 2005 and 2017 in 69 high-impact, clinical journals encompassing 23 medical specialties. Overall, 121,397 peer-reviewed publications were evaluated—of which, 45.1% were original research, 28.7% were review articles, and 26.3% were case reports. Multivariable regression was used to evaluate the magnitude of association of publication year on the number of authors per article by specialty and article type. Results: Original research articles have the greatest increase in authorship (0.23 more authors per article per year), as compared with review articles (0.18 authors per article per year) and case reports (0.01 authors per article per year). Twenty-two of the 23 specialties evaluated had increase in authorship in high-impact specialty journals. Specialty growth rates ranged from 0.42 authors/year (Neurology), Psychiatry (0.35 authors/year), General Surgery (0.29 authors/year), Urology (0.27 authors/year), and Pathology (0.27 authors/year). Specialties with a greater percentage of graduates entering academics had more authors per article; surgical specialties and length of residency were not found to be predictive factors. Conclusion: There has been substantial growth in the authorship bylines of contemporary medical literature, much of which cannot be explained by increased complexity or collaboration alone.
Spinal Surgery in Patients Aged 80 Years and Older: Risk Stratification Using the Modified Frailty Index
Authors: Kweh Barry , Lee Hui , Tan Terence , O’Donohoe Tom , Mathew Joseph , Fitzgerald Mark , Gantner Dashiell , Kambourakis Tony , Tew Kim , Hunn Martin , Rosenfeld Jeffrey , Tee Jin 
Published: March 2020

Study Design: This was an ambispective clinical quality registry study. Objective: To evaluate utility of 11-variable modified Frailty Index (mFI) in predicting postoperative outcomes among patients ≥80 years undergoing spinal surgery. Methods: Consecutive patients ≥80 years who underwent spinal surgery between January 1, 2013, and June 30, 2018, were included. Primary outcome measure was rate of major complication. Secondary outcome measures were (1) overall complication rate, (2) surgical site infection, and (3) 6-month mortality. Results: A total of 121 operations were performed. Demographic metrics were (1) age (mean ± SD) = 83.1 ± 2.8 years and (2) mFI (mean ± SD) = 2.1 ± 1.4 variables. As mFI increased from 0 to ≥4 variables, risk of major complication increased from 18.2% to 40.0% ( P = .014); overall complication increased from 45.5% to 70.0% ( P = .032); surgical site infection increased from 0.0% to 25.0% ( P = .007). There were no significant changes in risk of 6-month mortality across mFIs ( P = .115). Multivariate analysis showed that a higher mFI score of ≥3 variables was associated with a significantly higher risk of (1) major complication ( P = .025); (2) overall complication ( P = .015); (3) surgical site infection ( P = .007); and (4) mortality ( P = .044). Conclusions: mFI scores of ≥3/11 variables were associated with a higher risk of postoperative morbidity in patients aged ≥80 years undergoing spinal surgery. The mFI-associated risk stratification provides a valuable adjunct in surgical decision making for this rapidly growing subpopulation of patients.
Effects of malalignment and disease activity on osteophyte formation in knees of rheumatoid arthritis patients
Authors: Okumura Noriaki , Kawasaki Taku , Kubo Mitsuhiko , Yayama Takafumi , Mimura Tomohiro , Kumagai Kosuke , Maeda Tsutomu , Imai Shinji 
Published: March 2020

Purpose: Rheumatoid arthritis (RA) patients with secondary osteoarthritis (OA) in a knee joint following a total knee arthroplasty (TKA) procedure have been increasing. Here, we investigated osteophyte formation in knee joints of RA patients and associated factors. Methods: We retrospectively examined findings of 35 knees in 30 RA patients (26 females, 4 males; mean age: 63.0 years; median disease duration: 15 years) who underwent TKA, including preoperative anteroposterior view radiographs of the knee joint. Using the ImageJ software package, osteophyte size in the medial femur (MF), medial tibia (MT), lateral femur (LF), and lateral tibia (LT) regions was also determined. Results: The mean femorotibial angle was 179°, while Larsen grade was 2 in 1, 3 in 12, 4 in 18, and 5 in 2 patients. Osteophyte sizes in the MF, MT, LF, and LT regions were 37.2, 17.0, 27.2, and 4.57 mm2, respectively, and significantly greater in the medial compartment (MC; MF+MT) than the lateral compartment (LC; LF+LT) ( p < 0.001). In varus cases, osteophyte size in the MC was significantly larger than normal and valgus cases ( p = 0.0016). Furthermore, osteophyte size in the MC was negatively correlated with the inflammatory markers C-reactive protein ( r = −0.492, p = 0.0027) and erythrocyte sedimentation rate ( r = −0.529, p = 0.0016), whereas that in the LC was negatively correlated with disease activity ( r = −0.589, p = 0.0023). Conclusion: Our results suggest that alignment and disease activity influence osteophyte formation in RA patients, with secondary OA a more prominent symptom in RA patients with controlled inflammation.
Diagnosis of deep vein thrombosis of the lower extremity: a systematic review and meta-analysis of test accuracy
Authors: Bhatt Meha , Braun Cody , Patel Payal , Patel Parth , Begum Housne , Wiercioch Wojtek , Varghese Jamie , Wooldridge David , Alturkmani Hani J. , Thomas Merrill , Baig Mariam , Bahaj Waled , Khatib Rasha , Kehar Rohan , Ponnapureddy Rakesh , Sethi Anchal , Mustafa Ahmad , Nieuwlaat Robby , Lim Wendy , Bates Shannon M. , Lang Eddy , Le Gal Grégoire , Righini Marc , Husainat Nedaa M. , Kalot Mohamad A. , Al Jabiri Yazan Nayif , Schünemann Holger J. , Mustafa Reem A. 
Published: March 2020

Abstract
Deep vein thrombosis (DVT) of the lower extremities can be associated with significant morbidity and may progress to pulmonary embolism and postthrombotic syndrome. Early diagnosis and treatment are important to minimize the risk of these complications. We systematically reviewed the accuracy of diagnostic tests for first-episode and recurrent DVT of the lower extremities, including proximal compression ultrasonography (US), whole leg US, serial US, and high-sensitivity quantitative D-dimer assays. We searched Cochrane Central, MEDLINE, and EMBASE for eligible studies, reference lists of relevant reviews, registered trials, and relevant conference proceedings. Two investigators screened and abstracted data. Risk of bias was assessed using Quality Assessment of Diagnostic Accuracy Studies-2 and certainty of evidence using the Grading of Recommendations Assessment, Development and Evaluation framework. We pooled estimates of sensitivity and specificity. The review included 43 studies. For any suspected DVT, the pooled estimates for sensitivity and specificity of proximal compression US were 90.1% (95% confidence interval [CI], 86.5-92.8) and 98.5% (95% CI, 97.6-99.1), respectively. For whole-leg US, pooled estimates were 94.0% (95% CI, 91.3-95.9) and 97.3% (95% CI, 94.8-98.6); for serial US pooled estimates were 97.9% (95% CI, 96.0-98.9) and 99.8% (95% CI, 99.3-99.9). For D-dimer, pooled estimates were 96.1% (95% CI, 92.6-98.0) and 35.7% (95% CI, 29.5-42.4). Recurrent DVT studies were not pooled. Certainty of evidence varied from low to high. This systematic review of current diagnostic tests for DVT of the lower extremities provides accuracy estimates. The tests are evaluated when performed in a stand-alone fashion, and in a diagnostic pathway. The pretest probability of DVT often assessed by a clinical decision rule will influence how, together with sensitivity and specificity estimates, patients will be managed.
Organic Phosphorous and Calcium Source Induce the Synthesis of Yolk-Shell Structured Microspheres of Calcium Phosphate with High-Specific Surface Area: Application in HEL Adsorption
Authors: Cao Xianshuo , Wang Guizhen , Wang Kai , Guo Lan , Cao Yang , Cao Xianying , Yang Yong 
Published: March 2020

AbstractYolk-shell-structured calcium phosphate microspheres have a great potential for medical applications due to their excellent physicochemical properties and biocompatibility. However, developing a yolk-shell-structured calcium phosphate with high adsorption capability remains a challenge. Herein, a porous yolk-shell-structured microsphere (ATP-CG) of calcium phosphate with high-specific surface area [SBET = 143 m2 g−1, which is approximately three times as high as that of ATP-CL microspheres synthesized by replacing calcium source with calcium l-lactate pentahydrate (CL)] was successfully synthesized by using adenosine 5'-triphosphate disodium salt (ATP) as the phosphorous source and calcium gluconate monohydrate (CG) as calcium source through a self-templating approache. The influences of molar ratio of Ca to P (Ca/P), hydrothermal temperature, and time on the morphology of ATP-CG microspheres were also investigated. It is found that the organic calcium source and organic phosphorous source play a vital role in the formation of yolk-shell structure. Furthermore, a batch of adsorption experiments were investigated to illuminate the adsorption mechanism of two kinds of yolk-shell-structured microspheres synthesized with different calcium sources. The results show that the adsorption capacity of ATP-CG microspheres (332 ± 36 mg/g) is about twice higher than that of ATP-CL microspheres (176 ± 33 mg/g). Moreover, the higher-specific surface area caused by the calcium source and unique surface chemical properties for ATP-CG microspheres play an important role in the improvement of HEL adsorption capability. The study indicates that the as-prepared yolk-shell-structured microsphere is promising for application in drug delivery fields and provides an effective approach for improving drug adsorption capability.
Antimicrobial peptide and sequence variation along a latitudinal gradient in two anurans
Authors: Cortázar-Chinarro Maria , Meyer-Lucht Yvonne , Van der Valk Tom , Richter-Boix Alex , Laurila Anssi , Höglund Jacob 
Published: March 2020

AbstractBackgroundWhile there is evidence of both purifying and balancing selection in immune defense genes, large-scale genetic diversity in antimicrobial peptides (AMPs), an important part of the innate immune system released from dermal glands in the skin, has remained uninvestigated. Here we describe genetic diversity at three AMP loci (Temporin, Brevinin and Palustrin) in two ranid frogs (Rana arvalisandR. temporaria) along a 2000 km latitudinal gradient. We amplified and sequenced part of the Acidic Propiece domain and the hypervariable Mature Peptide domain (~ 150-200 bp) in the three genes using Illumina Miseq and expected to find decreased AMP genetic variation towards the northern distribution limit of the species similarly to studies on MHC genetic patterns.ResultsWe found multiple loci for each AMP and relatively high gene diversity, but no clear pattern of geographic genetic structure along the latitudinal gradient. We found evidence of trans-specific polymorphism in the two species, indicating a common evolutionary origin of the alleles. Temporin and Brevinin did not form monophyletic clades suggesting that they belong to the same gene family. By implementing codon evolution models we found evidence of strong positive selection acting on the Mature Peptide. We also found evidence of diversifying selection as indicated by divergent allele frequencies among populations and high Theta k values.ConclusionOur results suggest that AMPs are an important source of adaptive diversity, minimizing the chance of microorganisms developing resistance to individual peptides.