bluuebunny/crossref_metadata_2025_split huggingface dataset:
Whole-Brain Metabolic Abnormalities Are Associated With Mobility in Older Adults With Multiple Sclerosis
Authors: Mueller Christina , Baird Jessica F. , Motl Robert W. 
Published: February 2022

Background Older adults with multiple sclerosis (MS) experience mobility impairments, but conventional brain imaging is a poor predictor of walking abilities in this population. Objective To test whether brain metabolites measured with Magnetic Resonance Spectroscopy (MRS) are associated with walking performance in older adults with MS. Methods Fifteen older adults with MS (mean age: 60.9, SD: 5.1) and 22 age-matched healthy controls (mean age: 64.2, SD: 5.7) underwent whole-brain MRS and mobility testing. Levels of N-acetylaspartate (NAA), myo-inositol (MI), choline (CHO), and temperature in 47 brain regions were compared between groups and correlated with walking speed (Timed 25 Foot Walk) and walking endurance (Six-Minute Walk). Results Older adults with MS had higher MI in 23 areas, including the bilateral frontal (right: t (21.449) = −2.605, P = .016; left: t (35) = −2.434, P = .020), temporal (right: t (35) = −3.063, P = .004; left: t (35) = −3.026, P = .005), and parietal lobes (right: t (21.100) = −2.886, P = .009; left: t (35) = −2.507, P = .017), and right thalamus (t (35) = −2.840, P = .007). MI in eleven regions correlated with walking speed, and MI in twelve regions correlated with walking endurance. NAA was lower in MS in the bilateral thalami (right: t (35) = 3.449, P < .001; left: t (35) = 2.061, P = .047), caudate nuclei (right: t (33) = 2.828, P = .008; left: t (32) = 2.132, P = .041), and posterior cingulum (right: t (35) = 3.077, P = .004; left: t (35) = 2.972, P = .005). NAA in four regions correlated with walking speed and endurance. Brain temperature was higher in MS patients in four regions, but did not correlate with mobility measures. There were no group differences in CHO. Conclusion MI and NAA may be useful imaging end-points for walking ability as a clinical outcome in older adults with MS.
Inclusive Trial Designs in Acute Spinal Cord Injuries: Prediction–Based Stratification of Clinical Walking Outcome and Projected Enrolment Frequencies
Authors: Cathomen Adrian , Sirucek Laura , Killeen Tim , Abel Rainer , Maier Doris , Weidner Norbert , Rupp Rüdiger , Hothorn Torsten , Steeves John D. , Curt Armin , Bolliger Marc 
Published: February 2022

Background New therapeutic approaches in neurological disorders are progressing into clinical development. Past failures in translational research have underlined the critical importance of selecting appropriate inclusion criteria and primary outcomes. Narrow inclusion criteria provide sensitivity, but increase trial duration and cost to the point of infeasibility, while broader requirements amplify confounding, increasing the risk of trial failure. This dilemma is perhaps most pronounced in spinal cord injury (SCI), but applies to all neurological disorders with low frequency and/or heterogeneous clinical manifestations. Objective Stratification of homogeneous patient cohorts to enable the design of clinical trials with broad inclusion criteria. Methods Prospectively–gathered data from patients with acute cervical SCI were analysed using an unbiased recursive partitioning conditional inference tree (URP–CTREE) approach. Performance in the 6-minute walk test at 6 months after injury was classified based on standardized neurological assessments within the first 15 days of injury. Functional and neurological outcomes were tracked throughout rehabilitation up to 6 months after injury. Results URP–CTREE identified homogeneous outcome cohorts in a study group of 309 SCI patients. These cohorts were validated by an internal, yet independent, validation group of 172 patients. The study group cohorts identified demonstrated distinct recovery profiles throughout rehabilitation. The baseline characteristics of the analysed groups were compared to a reference group of 477 patients. Conclusion URP–CTREE enables inclusive trial design by revealing the distribution of outcome cohorts, discerning distinct recovery profiles and projecting potential patient enrolment by providing estimates of the relative frequencies of cohorts to improve the design of clinical trials in SCI and beyond.
Assessing Preferences and Perceived Restorative Qualities of Break Spaces for Nurses in China
Authors: Zhu Xiaoyi , Shepley Mardelle McCuskey 
Published: February 2022

Objective: This study investigated Chinese nurses’ preferences for (a) proximity of break areas, (b) functionality of break areas, (c) amenities, and (d) nature-related environmental features. Background: While nurses in China need support to adequately perform their jobs, little is known about how restorative spaces impact their mental and physical health. Methods: Data were collected through interviews ( N = 12), survey questionnaires ( N = 88), and visual assessments ( N = 88) from nurses who worked in inpatient settings in China. Results: Nurses preferred the break room to be close to nursing stations; to have visual privacy from patients; and to provide space and facilities for drinking, taking naps, dining, and chatting with colleagues. Balconies and windows were shown to have a significant restorative effect. Well-designed break areas were perceived to have positive impacts on nurse perceived levels of well-being and increase nurses’ satisfaction levels with their work environment. Conclusion: The study outcomes emphasize the importance of restorative spaces for inpatient nurses and recommend including natural elements in the break rooms.
Skeletal radiographic manifestations of GM2 gangliosidosis variant 0 (Sandhoff disease) in two Japanese domestic cats
Authors: Yu Yoshihiko , Hasegawa Daisuke , Hamamoto Yuji , Mizoguchi Shunta , Fujimori Toshiki , Kubo Yoshiaki , Islam Md Shafiqul , Yamato Osamu 
Published: February 2022

Case series summary Two Japanese domestic cats with GM2 gangliosidosis variant 0, diagnosed at different times, are included in this case series. Both cats were diagnosed by genetic analysis and had the HEXB:c.667C>T pathogenic genetic variant, which have been previously reported in Japanese domestic cats with GM2 gangliosidosis variant 0. Clinical signs and the identification of vacuolation in circulating lymphocytes were consistent with those in previous reports of feline GM2 gangliosidosis variant 0. Radiography showed that both cases had similar skeletal radiographic manifestations, which has not been previously reported in Japanese domestic cats with GM2 gangliosidosis variant 0. Radiographic findings included abnormally shaped vertebral bodies, obscure or irregular endplates (both of which were seen especially in the cervical and thoracic vertebrae), generalised osteopenia and new bone proliferation around articular facets. Relevance and novel information To the best of our knowledge, this is the first report to present the skeletal radiographic abnormalities of Japanese domestic cats with GM2 gangliosidosis variant 0 caused by the HEXB:c.667C>T pathogenic genetic variant. Furthermore, together with a report published in 2015 on the radiographic findings of feline GM2 gangliosidosis variant 0 caused by another pathogenic genetic variant, this report suggests that these findings may be indicators of feline GM2 gangliosidosis variant 0. The easily obtained radiographic findings described in this report may be useful as a finding suggestive of feline GM2 gangliosidosis variant 0, in addition to the cytological finding of the vacuolated cells. The report emphasises the utility of radiography for diagnosis of cases with suspected progressive neurodegenerative diseases.
Pathogenesis and Staging of Craniovertebral Tuberculosis: Radiographic Evaluation, Classification, and Natural History
Authors: Chaudhary Kshitij , Pennington Zach , Rathod Ashok K. , Laheri Vinod , Bapat Mihir , Sciubba Daniel M. , Suratwala Sanjeev J 
Published: February 2022

Study Design Retrospective cohort. Objective To radiographically evaluate Craniovertebral junction (CVJ) tuberculosis infection pathogenesis and to propose a modification to the Lifeso classification. Methods A cohort of patients with radiologically or microbiologically identified CVJ tuberculosis treated at a single tertiary referral center in a TB endemic area was queried for characteristics about clinical presentation, treatment, and radiographic evidence of bone destruction and abscess formation were included. Disease was classified according to the Lifeso grading system and bony lesions were classified as either type 1 (preservation of underlying structure) or type 2 (damage of underlying structure). Results 52 patients were identified (mean age 28.5 ± 13.4yr, 48% male; 14% with a prior history of tuberculosis). All presented with neck pain at presentation, 29% with rotatory pain, and 37% with myelopathy. Comparison by Lifeso type showed Lifeso III lesions had longer symptom durations ( P = .03) and more commonly had periarticular or predental abscess formation ( P < .05), spinal cord compression ( P < .01), and more commonly involved the C2 body and atlanto-dental joint. Underlying bony destruction was more common for lesions of the lateral atlantoaxial joints and atlanto-dental joints in Lifeso III cases than in either Lifeso I or II (all P < .05). Conclusions The radiologic findings of the present series suggest CVJ TB infection may originate in the periarticular fascia with subsequent invasion into the adjacent atlanto-dental and lateral atlantoaxial joints in later disease. To reflect this proposed etiology, we present a modified Lifeso classification to describe the radiologic pathogenesis of CVJ TB.
Periacetabular Osteotomy in United States Military Personnel: Results From an Interservice Hip Preservation Practice
Authors: Murtha Andrew S. , Schmitz Matthew R. 
Published: February 2022

Background: Untreated or residual developmental dysplasia of the hip may cause significant morbidity. Periacetabular osteotomy (PAO) allows for surgical reorientation of the acetabulum but requires a significant recovery period. Because of the physical demands of active military service, hip dysplasia or its treatment with PAO may cause a significant impact on the careers of affected personnel. Purpose: To measure the impact of symptomatic acetabular dysplasia and its treatment with PAO on the physical readiness of personnel in the United States Armed Forces. Study Design: Case series; Level of evidence, 4. Methods: Records from an interservice hip-preservation practice were reviewed for all patients who underwent PAO while on active duty from January 2014 through April 2017. Collected information included branch of service, military occupation, preoperative duty restrictions related to the hip, and concomitant surgical procedures. Patients were evaluated for a minimum of 24 months and assessed for their time to return to duty, continued duty restrictions, and referrals to the medical evaluation board. Results: Twenty patients (15 female, 5 male) underwent a PAO while on active duty during the period assessed. The mean patient age at surgery was 25.9 years, and the mean follow-up was 3.3 years (range, 2.3-5.4 years). In the 6 months preceding surgery, 94% of the 17 patients with available records were on duty restrictions specific to their hip (14 temporary, 2 permanent). After PAO, 35% of patients (n = 7) returned to full duty and 85% were able to remain on active duty (n = 12) or complete their military service commitments (n = 5) without noted medical disability. Three patients were medically discharged after PAO, with 1 patient referred due to hip pathology. Conclusion: Acetabular dysplasia significantly affects physical readiness in affected servicemembers, with 94% requiring duty restrictions. PAO allowed 85% of patients to return to military service, and 1 in 3 were able to return to full duty.
Co-Relation of Hormonal Profile and BRCA1 in Sporadic Breast Carcinoma: A Single Institutional Experience of 303 Patients
Authors: Agarwal Preeti , Khan Fatima , Gupta Sameer , Bhalla Shalini , Thomas Ann , Anand Akshay , Singh Kulranjan , Sonkar Abhinav Arun 
Published: February 2022

Introduction: Invasive Breast carcinoma—No special type (NST) is the most common breast malignancy accounting for 95% of breast cancers. Study of predictive and prognostic immunohistochemical markers estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (Her2neu) expression are crucial for treatment planning. Materials and Methods: In the present study we studied the hormonal profile in 303 sporadic breast cancers and BRCA1 protein expression in these patients along with its clinico-pathological correlation. Results: In our patient population, Triple negative Breast carcinoma (TNBC) (104/303; 34.3%) was the most common luminal subtype followed by Luminal A 74/303; 24.4%), Her2 enriched (65/303; 21.5%), and Luminal B (60/303; 19.8%) respectively. This contrasts with many western studies which commonly report Luminal A being the largest subgroup. BRCA1 protein loss was more prominently seen in TNBC (64/104;61.5%) highlighting the possibility that high grade tumors are more susceptible to some epigenetic modifications leading to higher likelihood of loss of BRCA1 protein. Conclusion: Hence, we conclude that like hereditary cases of breast carcinoma with BRCA1 mutation; BRCA1 loss is also more likely in sporadic TNBC cases.
Guiding the global evolution of cytogenetic testing for hematologic malignancies
Authors: Akkari Yassmine M. N. , Baughn Linda B. , Dubuc Adrian M. , Smith Adam C. , Mallo Mar , Dal Cin Paola , Diez Campelo Maria , Gallego Marta S. , Granada Font Isabel , Haase Detlef T. , Schlegelberger Brigitte , Slavutsky Irma , Mecucci Cristina , Levine Ross L. , Hasserjian Robert P. , Solé Francesc , Levy Brynn , Xu Xinjie 
Published: February 2022

Abstract
Cytogenetics has long represented a critical component in the clinical evaluation of hematologic malignancies. Chromosome banding studies provide a simultaneous snapshot of genome-wide copy number and structural variation, which have been shown to drive tumorigenesis, define diseases, and guide treatment. Technological innovations in sequencing have ushered in our present-day clinical genomics era. With recent publications highlighting novel sequencing technologies as alternatives to conventional cytogenetic approaches, we, an international consortium of laboratory geneticists, pathologists, and oncologists, describe herein the advantages and limitations of both conventional chromosome banding and novel sequencing technologies and share our considerations on crucial next steps to implement these novel technologies in the global clinical setting for a more accurate cytogenetic evaluation, which may provide improved diagnosis and treatment management. Considering the clinical, logistic, technical, and financial implications, we provide points to consider for the global evolution of cytogenetic testing.
Safety and efficacy of tisagenlecleucel in primary CNS lymphoma: a phase 1/2 clinical trial
Authors: Frigault Matthew J. , Dietrich Jorg , Gallagher Kathleen , Roschewski Mark , Jordan Justin T. , Forst Deborah , Plotkin Scott R. , Cook Daniella , Casey Keagan S. , Lindell Kevin A. , Depinho Gabriel D. , Katsis Katelin , Elder Eva Lynn , Leick Mark B. , Choi Bryan , Horick Nora , Preffer Frederic , Saylor Meredith , McAfee Steven , O’Donnell Paul V. , Spitzer Thomas R. , Dey Bimalangshu , DeFilipp Zachariah , El-Jawahri Areej , Batchelor Tracy T. , Maus Marcela V. , Chen Yi-Bin 
Published: February 2022

AbstractCD19-directed chimerical antigen receptor T-cell (CAR-T) products have gained US Food and Drug Administration approval for systemic large B-cell lymphoma. Because of concerns about potential immune cell-associated neurotoxicity syndrome (ICANS), patients with primary central nervous system (CNS) lymphoma (PCNSL) were excluded from all pivotal CAR-T studies. We conducted a phase 1/2 clinical trial of tisagenlecleucel in a highly refractory patients with PCNSL and significant unmet medical need. Here, we present results of 12 relapsed patients with PCNSL who were treated with tisagenlecleucel and followed for a median time of 12.2 months (range, 3.64-23.5). Grade 1 cytokine release syndrome was observed in 7/12 patients (58.3%), low-grade ICANS in 5/12 (41.6%) patients, and only 1 patient experienced grade 3 ICANS. Seven of 12 patients (58.3%) demonstrated response, including a complete response in 6/12 patients (50%). There were no treatment-related deaths. Three patients had ongoing complete remission at data cutoff. Tisagenlecleucel expanded in the peripheral blood and trafficked to the CNS. Exploratory analysis identified T-cell, CAR T, and macrophage gene signatures in cerebrospinal fluid following infusion when compared with baseline. Overall, tisagenlecleucel was well tolerated and resulted in a sustained remission in 3/7 (42.9%) of initial responders. These data suggest that tisagenlecleucel is safe and effective in this highly refractory patient population. This trial was registered at www.clinicaltrials.gov as #NCT02445248.
Automatic classification of nerve discharge rhythms based on sparse auto-encoder and time series feature
Authors: Jiang Zhongting , Wang Dong , Chen Yuehui 
Published: February 2022

Abstract
Background
Nerve discharge is the carrier of information transmission, which can reveal the basic rules of various nerve activities. Recognition of the nerve discharge rhythm is the key to correctly understand the dynamic behavior of the nervous system. The previous methods for the nerve discharge recognition almost depended on the traditional statistical features, and the nonlinear dynamical features of the discharge activity. The artificial extraction and the empirical judgment of the features were required for the recognition. Thus, these methods suffered from subjective factors and were not conducive to the identification of a large number of discharge rhythms.

Results
The ability of automatic feature extraction along with the development of the neural network has been greatly improved. In this paper, an effective discharge rhythm classification model based on sparse auto-encoder was proposed. The sparse auto-encoder was used to construct the feature learning network. The simulated discharge data from the Chay model and its variants were taken as the input of the network, and the fused features, including the network learning features, covariance and approximate entropy of nerve discharge, were classified by Softmax. The results showed that the accuracy of the classification on the testing data was 87.5%, which could provide more accurate classification results. Compared with other methods for the identification of nerve discharge types, this method could extract the characteristics of nerve discharge rhythm automatically without artificial design, and show a higher accuracy.

Conclusions
The sparse auto-encoder, even neural network has not been used to classify the basic nerve discharge from neither biological experiment data nor model simulation data. The automatic classification method of nerve discharge rhythm based on the sparse auto-encoder in this paper reduced the subjectivity and misjudgment of the artificial feature extraction, saved the time for the comparison with the traditional method, and improved the intelligence of the classification of discharge types. It could further help us to recognize and identify the nerve discharge activities in a new way.
Prediction of liquid–liquid phase separating proteins using machine learning
Authors: Chu Xiaoquan , Sun Tanlin , Li Qian , Xu Youjun , Zhang Zhuqing , Lai Luhua , Pei Jianfeng 
Published: February 2022

Abstract
Background
The liquid–liquid phase separation (LLPS) of biomolecules in cell underpins the formation of membraneless organelles, which are the condensates of protein, nucleic acid, or both, and play critical roles in cellular function. Dysregulation of LLPS is implicated in a number of diseases. Although the LLPS of biomolecules has been investigated intensively in recent years, the knowledge of the prevalence and distribution of phase separation proteins (PSPs) is still lag behind. Development of computational methods to predict PSPs is therefore of great importance for comprehensive understanding of the biological function of LLPS.

Results
Based on the PSPs collected in LLPSDB, we developed a sequence-based prediction tool for LLPS proteins (PSPredictor), which is an attempt at general purpose of PSP prediction that does not depend on specific protein types. Our method combines the componential and sequential information during the protein embedding stage, and, adopts the machine learning algorithm for final predicting. The proposed method achieves a tenfold cross-validation accuracy of 94.71%, and outperforms previously reported PSPs prediction tools. For further applications, we built a user-friendly PSPredictor web server (http://www.pkumdl.cn/PSPredictor), which is accessible for prediction of potential PSPs.

Conclusions
PSPredictor could identifie novel scaffold proteins for stress granules and predict PSPs candidates in the human genome for further study. For further applications, we built a user-friendly PSPredictor web server (http://www.pkumdl.cn/PSPredictor), which provides valuable information for potential PSPs recognition.
Mid- and long-term responses of land snail communities to the intensification of mountain hay meadows management
Authors: Martínez-De León Gerard , Dani Lauriane , Hayoz-Andrey Aline , Humann-Guilleminot Ségolène , Arlettaz Raphaël , Humbert Jean-Yves 
Published: February 2022

AbstractBackgroundSpecies-rich semi-natural grasslands are impacted by the severe land-use changes that are affecting mountain regions, compromising their high biodiversity value. In particular, sprinkler irrigation and increased fertilisation stimulate vegetation growth, modifying and homogenising habitat conditions for ground-dwelling invertebrates. Among them, land snails have been largely understudied despite their commonness and vulnerability to small-scale habitat alteration. This study investigated the mid- and long-term responses of land snail communities to management intensification of montane and subalpine hay meadows. Mid-term effects were studied using a randomised block design experiment, mimicking an intensification gradient with different levels of irrigation and fertilisation applied during 5 years. Long-term effects were examined relying on an observational approach that consisted in comparing snail communities in meadows managed intensively for > 20 years with those from the 5-year experimental module.ResultsWe show that management intensification initially boosts snail densities, but erodes species richness by − 35% in intensively-managed meadows in the long term. Contrary to our expectations, drought-tolerant (xerophilous) snails benefitted from grassland intensification, whereas mesophilous species accounted for most species losses due to intensification in the long run, indicating that the latter may be especially sensitive to the hostile microclimate conditions abruptly prevailing in a meadow after mowing. Soil pH was also a principal determinant of land snail occurrence, with almost no specimen recorded in acidic meadows (pH < 5.5), while plant diversity favoured overall snail abundance.ConclusionsDespite the fact that xerophilous snails appear tolerant to management intensification, we found that several drought-sensitive species are lost in the long term. We conclude that the preservation of species-rich land snail communities in mountain hay meadows requires the conservation and restoration of low-input grasslands on basic soils for preventing further species losses of gastropod fauna.