bluuebunny/crossref_metadata_2025_split huggingface dataset:
Disease burden byALPLvariant number in patients with non-life-threatening hypophosphatasia in the Global HPP Registry
Authors: Kishnani Priya S , Seefried Lothar , Dahir Kathryn M , Martos-Moreno Gabriel Á , Högler Wolfgang , Greenberg Cheryl R , Fang Shona , Petryk Anna , Mowrey William R , Linglart Agnès , Ozono Keiichi 
Published: February 2025

BackgroundHypophosphatasia (HPP) is a rare metabolic disease caused by autosomal dominant or recessive inheritance ofALPLvariants resulting in low alkaline phosphatase activity. The objective of this analysis was to compare HPP disease burden between patients with non-life-threatening disease in the Global HPP Registry who have oneALPLvariant versus two or more ALPLvariants.MethodsPatients were included if they had one or more ALPLvariants identified through genetic testing and first HPP manifestations after 6 months of age. Assessments included history of HPP manifestations, Brief Pain Inventory-Short Form (BPI-SF), Health Assessment Questionnaire-Disability Index (HAQ-DI), 6-Min Walk Test (6MWT), Paediatric Quality of Life Inventory (PedsQL) and 36-Item Short-Form Survey V.2 (SF-36v2).ResultsOf 685 included patients, 568 (82.9%) had oneALPLvariant, 116 (16.9%) had two variants, and one (0.1%) had three variants. Patients with two or more ALPLvariants had higher proportions of skeletal (52.1% vs 32.6%), dental (73.5% vs 56.0%), muscular (36.8% vs 23.6%) and neurological (22.2% vs 8.8%) manifestations at last assessment. BPI-SF, HAQ-DI, PedsQL and SF-36v2 scores were similar between groups. Distances walked on the 6MWT were similar between groups for children. Distance walked was lower among adults with two or more variants (293 m (n=8)) than adults with one variant (466 m (n=103)), although the former group was very small.ConclusionHPP disease burden is high in patients with HPP, regardless ofALPLvariant number. While prevalence of HPP-specific manifestations was higher in patients with two or more variants than those with one variant, patient-reported outcomes were similar between groups.Trial registration numberNCT02306720; EUPAS13514.
Symptom reduction in advanced cancer from multi-session mindful breathing: randomised controlled study
Authors: Tung Yu Zhen , Ng Diana Leh Ching , Lai Natalie Zi , Ang Chui Munn , Lim Poh Khuen , Zainuddin Sheriza Izwa , Lam Chee Loong , Loh Ee Chin , Chai Chee Shee , Tan Seng Beng 
Published: February 2025

ObjectivesWhile single-session mindful breathing shows symptom reduction in palliative care, data on multi-session efficacy is lacking. This study aimed to determine the effectiveness of multi-session mindful breathing in reducing symptoms among patients with advanced cancer.MethodsAdult patients with advanced cancer who scored ≥4 in at least two or more symptoms based on the Edmonton Symptom Assessment Scale (ESAS) were recruited from January to March 2020 at the University of Malaya Medical Centre, Malaysia. Participants were randomly assigned to receive either four daily sessions of 30 min mindful breathing and standard care (intervention) or standard care alone (control). The outcome measured was the change in the ESAS score after each session.Results80 patients were recruited and randomised equally into the intervention and control groups. The demographic and clinical characteristics between the two groups were not statistically different. For the intervention group, there were statistically significant reductions in the total ESAS scores following all four sessions of 30 min mindful breathing (n1=40: z1=−5.09, p<0.001; z2=−3.77, p<0.001; z3=−4.38, p<0.001; z4=−3.27, p<0.05). For the control group, statistically significant reductions in the total ESAS scores were seen only after sessions 1 and 3 (n2=40: z1=−4.04, p<0.001; z3=−4.53, p<0.001).ConclusionsOur result provides evidence that four daily sessions of 30 min mindful breathing may be effective in reducing multiple symptoms rapidly in patients with advanced cancer.Trial registration numberNCT05910541.
Efficacy and Safety of Gabapentinoids in the Treatment of Carpal Tunnel Syndrome: A Systematic Review and Meta-Analysis
Authors: RAATIKAINEN Saara , JAATINEN Kati , KARJALAINEN Teemu , LUSA Vieda 
Published: February 2025

Background: The off-label use of gabapentinoids for carpal tunnel syndrome (CTS) is increasing despite limited evidence of efficacy and known risks of adverse effects. This systematic review and meta-analysis aimed to synthesise the evidence of the benefits and harms of oral gabapentinoids in treating CTS. Methods: We searched Medline and Cochrane Central Register of Controlled Trials for randomised controlled trials (RCT). Based on the search results, we formed three comparisons assessing the effect of oral gabapentinoid interventions against (1) placebo (primary comparison), (2) open label no-treatment (with co-interventions in both arms) or (3) splinting. The primary outcome was symptom severity. The secondary outcomes were pain, function, clinical improvement, health-related quality of life, adverse effects and need for surgery. We adhered to the Cochrane and GRADE methodology throughout conducting this systematic review and meta-analysis. Results: Gabapentinoids probably do not improve CTS symptoms (moderate certainty) compared with placebo. The benefit was 0.08 points better (95% confidence interval [CI] 0.33 better to 0.17 worse; two studies, 286 randomised participants) expressed on the Boston Carpal Tunnel Syndrome Questionnaire (BCTQ) Symptom Severity Scale (1–5 points, lower is better; minimal clinically important difference [MCID] 1.14 points) with gabapentinoids at 8 weeks. Secondary comparison to no treatment aligned with this finding. Gabapentinoids probably cause more fatigue (risk ratio [RR] 1.67 [95% CI 1.06–2.63]) and may cause more dizziness (RR 1.96 [95% CI 0.93–4.13]) compared to placebo. When compared to no-treatment at short term, gabapentinoids may provide minor benefits for pain but not for hand function. Conclusions: Current evidence does not support the use of oral gabapentinoids for CTS. There were no clinically important benefits in symptom relief when compared to placebo or no-treatment, and gabapentinoids caused adverse effects, particularly fatigue and maybe also dizziness. Level of Evidence: Level II (Therapeutic)
Silicone Locking-Liner Socket with a Lightweight Aesthetic Prosthesis for Short Congenital Forearm Stumps: A Report of Two Patients
Authors: LEOW Michael El , PUHAINDRAN Mark E. , CHONG Alphonsus K. S. 
Published: February 2025

Conventional prosthetic sockets can be uncomfortable and restrictive to elbow flexion when fitted on short forearm stumps due to their high trimline. We report improved patient experience after switching to a locking silicone-liner socket in conjunction with a lightweight aesthetic prosthesis in two congenital transradial amputees with short stumps who were previously dissatisfied with their conventional prosthesis. To reduce weight, the forearm section of the prosthesis was constructed using a lightweight design. Seven of eight attributes, namely aesthetics, comfort, suspension, ease of donning/doffing, weight, range of motion, skin issues and overall satisfaction, were rated by both patients as having improved versus their conventional prosthesis, with no change reported regarding issues of the skin. Our experience suggests that transradial amputees with short stumps who had problems with conventional fittings due to socket impingement and prosthesis weight may benefit from an approach combining a locking-pin liner suspension with a lightweight prosthesis. Level of Evidence: Level V (Therapeutic)
Challenges and Solutions for Fuel Cell stacks in Transportation
Authors: Xiao Yang , Wang Jie , Zhang Tianyao , Yang Faqing , Liu Mengjun , Kou Zitao 
Published: February 2025

Abstract
Due to the advantages of environmental friendliness and high energy density, fuel cells have broad application prospects in many fields, such as automobiles, ships, aerospace, etc. However, commercial applications of fuel cells also face challenges of durability and reliability, especially in shock and vibration environments. Here, the electrochemical and mechanical behaviours of fuel cells under vibration environments are described, and the effects of vibration and shock conditions on the electrochemical, mechanical, water and gas transport, and durability performance of fuel cells are systematically reviewed, involving the variation laws of assembly torque, sealing, relative slippage between cells, water and gas transport, electrical resistance, and membrane electrodes. In addition, the methods that can mitigate the effects of vibration on fuel cells in existing studies are summarised. Finally, discussions and perspectives on the research methods of fuel cell performance under vibration are presented. It is hoped that the review can provide a systematic comprehension and direction for vibration protection of fuel cells.
Clinical and Translational Results from PORTER, a Multi-cohort Phase 1 Platform Trial of Combination Immunotherapy in Metastatic Castration-Resistant Prostate Cancer
Authors: Galsky Matthew D. , Autio Karen A. , Cabanski Christopher R. , Wentzel Kristopher , Graff Julie N. , Friedlander Terence W. , Howes Timothy R. , Shotts Kristin M. , Densmore Julie , Spasic Marko , Da Silva Diane M. , Chen Richard O. , Lata Jennifer , Skolnik Jeffrey , Keler Tibor , Yellin Michael J. , LaVallee Theresa M. , Fairchild Justin , Boffo Silvia , O'Donnell-Tormey Jill , Dugan Ute , Bhardwaj Nina , Subudhi Sumit K. , Fong Lawrence 
Published: February 2025

Abstract
Purpose: Current immune checkpoint therapies offer limited benefits for metastatic castration-resistant prostate cancer (mCRPC). Novel combinations may enhance immunotherapy efficacy. Patients and Methods: We conducted an open-label, non-comparative platform trial (NCT03835533) in mCRPC to assess nivolumab-based combinations. The cohorts were: A) bempegaldesleukin 0.006 mg/kg and nivolumab 360 mg intravenously Q3W, B) stereotactic body radiation therapy 30-50 Gray, CDX-301 75 μg/kg subcutaneously for 5 days, poly-ICLC 1 mg intramuscularly twice weekly for 3 weeks, and nivolumab 480 mg Q4W, and C) CDX-301 75 μg/kg for 10 days, INO-5151 3 mg intramuscularly on Lead-in Day 8, Day 1 of Cycles 1-3, then Q12W, and nivolumab 480 mg Q4W. The primary endpoint was safety; secondary endpoints included composite response rate (radiographic, PSA, or circulating tumor cell responses), 6-month disease control rate, progression-free survival, and overall survival. Serial blood and tissue samples were analyzed for pharmacodynamics and association with disease control. Results: 43 patients enrolled (N = 14, 15, 14 in Cohorts A, B, C). Grade 3-4 treatment-related adverse events (TRAEs) occurred in 10 (71%), 2 (13%), and 2 (14%) patients, respectively, with one Grade 5 TRAE in Cohort A. Composite response rates were 7% (1/14), 33% (5/15), and 7% (1/14). Across cohorts, 6-month disease control was associated with pre-existing memory/regulatory T cells, TNFα, and other inflammatory pathways. Conclusions: Cohort B, which combined radiation therapy with CDX-301, poly-ICLC, and nivolumab, demonstrated encouraging clinical activity. Pre-existing rather than treatment-induced immune activation was associated with clinical benefit across cohorts, highlighting the importance of baseline immune fitness.
Decolonization, Heritage, And Problems of Forgetting
Authors: Nugent Gabriella 
Published: February 2025

Abstract
As art historians and curators have attempted to foreground African artists in the name of decolonization, there has been a certain forgetfulness of previous postcolonial attempts to reckon with colonial knowledge production. Questions around the relationship between political decolonization, postcolonialism, decoloniality, and current demands to decolonize have come to the fore in recent years. Nugent addresses these concerns as they relate to African art through two studies: Pierre-Philippe Fraiture's Past Imperfect: Time and African Decolonization 1945–1960 and Ferdinand de Jong's Decolonizing Heritage: Time to Repair in Senegal. Both books intervene in such instances of forgetting by looking to the past to challenge many of the constructs and assumptions around African art that continue to be taken for granted today. They invite us to consider alternate ways of imaging art and history through the dialogue between modern African intellectuals and European scholars.
Caring for Children in Lower-SES Contexts: Recognizing Parents' Agency, Adaptivity & Resourcefulness
Authors: Ellwood-Lowe Monica E. , Reyes Gabriel , DeJoseph Meriah L. , Frankenhuis Willem E. 
Published: February 2025

Abstract
From public policy to the social sciences, parenting in low-resource contexts is often viewed through a lens of deficit: there is a focus on what parents should be doing differently. We challenge this idea, highlighting the deliberate and rational choices parents with low socioeconomic status often make to navigate their circumstances and give their children the best lives possible under significant constraints. These parenting decisions may go beyond simply ensuring children's survival in harsh contexts. In some cases, they might give children the best shot at upward mobility. This view broadens our scientific understanding of good care, and implies that children may be best served when resources are spent on meeting families' needs, rather than instructing parents on how to care.
Expanding the Community of Fate by Expanding the Community of Care
Authors: Levi Margaret 
Published: February 2025

Abstract
All of us need or give care-or both-over the course of our lives. Thus, care is a widely shared interest that can become the basis of an expanded and inclusive community of fate in which people take responsibility for those in need, even if they are strangers or unlikely to be able to reciprocate. This essay explores this claim and some of the conditions for creating such an expanded and inclusive community of fate.
Short association fibres form topographic sheets in the human
V1–V2 processing stream
Authors: Movahedian Attar Fakhereh , Kirilina Evgeniya , Chaimow Denis , Haenelt Daniel , Schneider Christian , Edwards Luke J. , Pine Kerrin J. , Jäger Carsten , Reimann Katja , Pohlmann Andreas , Periquito João , Streubel Tobias , Trampel Robert , Mohammadi Siawoosh , Niendorf Thoralf , Morawski Markus , Weiskopf Nikolaus 
Published: February 2025

Abstract
Despite the importance of short association fibres (SAF) for human brain function their structures remain understudied. It is not known how SAF are organised across the brain, and how consistent their geometries and locations are across individuals. To address this gap, we mapped the precise structures of SAF in the primary (V1) and secondary (V2) visual cortex in a group of participants in vivo and a post mortem specimen. We assessed the consistency of SAF geometries and their expected structural and functional topography using probabilistic tractography on sub-millimetre resolution diffusion-weighted MRI combined with functional MRI retinotopic maps in vivo. We found that dense SAF connected V1 and V2, forming sheet structures with retinotopic topography and bearing consistent geometries that resembled the local V1–V2 cortical folding. In vivo findings were corroborated by the robust and fine-grained post mortem reference. Our in vivo approach provides important insights into SAF organisation and could be applied to studies across species on cortical and SAF reorganisation and support neuronavigation.
Quantifying the influence of biophysical factors in shaping brain communication through remnant functional networks
Authors: Nakuci Johan , Garcia Javier , Bansal Kanika 
Published: February 2025

Abstract
Functional connectivity (FC) reflects brain-wide communication essential for cognition, yet the role of underlying biophysical factors in shaping FC remains unclear. We quantify the influence of physical factors–structural connectivity (SC) and Euclidean distance (DC), which capture anatomical wiring and regional distance–and molecular factors–gene expression similarity (GC) and neuroreceptor congruence (RC), representing neurobiological similarity–on resting-state FC. We assess how these factors impact graph-theoretic and gradient features, capturing pairwise and higher-order interactions. By generating remnant functional networks after selectively removing connections tied to specific factors, we show that molecular factors, particularly RC, dominate graph-theoretic features, while gradient features are shaped by a mix of molecular and physical factors, especially GC and DC. SC has a surprisingly minor role. We also link FC alterations to biophysical factors in schizophrenia, bipolar disorder, and ADHD, with physical factors differentiating these groups. These insights are key for understanding FC across various applications, including task performance, development, and clinical conditions.
Quality of life is decreased in persons with relapsing-remitting multiple sclerosis experiencing progression independent of relapse activity
Authors: Lindberg Sarah , Sandgren Sofia , Axelsson Markus , Rosenstein Igal , Lycke Jan , Novakova Lenka 
Published: February 2025

Introduction: Reduced quality of life (QoL) is an early feature of multiple sclerosis (MS). The effect of progression independent of relapse activity (PIRA) on QoL is poorly investigated. Objective: To assess the impact of PIRA on QoL using patient-reported outcome measures (PROMs). Methods: In a prospective observational study, 125 newly diagnosed persons with relapsing-remitting MS (PwRRMS) were assessed over 5 years with: EuroQoL-5-Dimension-3-level (EQ-5D-3L), EQ-visual-analogous-scale (EQ-VAS) and 29-item-MS-Impact-Scale (MSIS-29). PwRRMS were dichotomized: PIRA (worsening of expanded disability status scale (EDSS), timed-25-foot-walk or 9-hole-peg-test, independent of relapses) versus non-PIRA. PwRRMS were compared at baseline, year 5 (y5) and delta values (baseline scores subtracted from y5 scores) and annually using linear-mixed-effects-models. Results: At y5, 19.2% had PIRA. PIRA versus non-PIRA PwRRMS were older ( p < 0.001). At y5 PIRA PwRRMS had lower EQ-5D-3L ( p = 0.001), higher MSIS-29-PHYS ( p < 0.001), delta values showed lower EQ-5D-3L ( p < 0.001) and EQ-VAS ( p = 0.010), higher MSIS-29-PHYS ( p = 0.004) and MSIS-29-PSYCH ( p = 0.036). Linear-mixed-effects-models showed that, compared to PIRA, non-PIRA PwRRMS had an improvement in QoL: EQ-5D-3L: β = 0.039, p < 0.001; EQ-VAS: β = 2.401, p < 0.001; MSIS-29-PHYS: β = −0.107, p < 0.001; MSIS-29-PSYCH, β = −0.115, p < 0.001, during the 5-year study period. Conclusion: Deteriorating QoL in the early course of relapsing-remitting multiple sclerosis (RRMS) is strongly associated with PIRA. Our results suggest that QoL PROMs should be monitored and recognized as an important aspect of progression.
Autopsy-proven patient with corticobasal degeneration presenting with visuo-constructive disorders as initial symptoms: How advanced MRI sequences can help clinical practice
Authors: Salman Yasmine , Huyghe Lara , Quenon Lisa , Ghysens Olivia , Malotaux Vincent , Tomé Sandra O , Thal Dietmar Rudolf , Hanseeuw Bernard J 
Published: February 2025

Background Cortico-basal degeneration (CBD) is a neurodegenerative disease typically responsible for cortico-basal syndrome (CBS) or progressive limb apraxia. Half of CBD patients, however, present atypical symptoms, making the diagnosis difficult. Objective We reported the case of a woman in her late sixties (BM208), an unusual case of autopsy-proven CBD, showing early signs of Benson's syndrome or posterior cortical atrophy. In addition, we compared cognitive performance and atrophy in different brain regions of BM208 with other neurodegenerative diseases patients to highlight clinical signs that could have guided the diagnosis earlier. Methods We retrospectively compared BM208 to patients with typical amnestic Alzheimer's disease (AD) (n = 18, Mini-Mental State Exam (MMSE) scores between 18 and 24), Benson's syndrome due to AD (n = 3), CBS/progressive supranuclear palsy (PSP) syndrome (n = 5), and Lewy body dementia (LBD) patients (n = 3) and a control group (n = 24). All these participants underwent an MMSE, a complete neuropsychological examination and 3DT1 MRI. Results Although BM208 was more severely cognitively impaired overall, her cognitive performance was more similar to Benson's syndrome patients’ cognitive profile compared to CBS patients or any other degenerative pathology (typical AD/LBD). Consistently, although BM208 was more atrophic than all other groups, she showed cortical atrophy that matched a Benson's syndrome pattern more than typical AD or CBS. However, the analysis of subcortical atrophy revealed atrophy of the basal ganglia corresponding CBS cases. Furthermore, visual analyses on sagittal T1 images showed atrophy of the midbrain, characteristic of CBS/PSP syndrome. Conclusions These results highlight the additive value of fine-grained MRI subcortical quantification to diagnose non-AD rare neurodegenerative disorders.
To assess the usefulness of 6-min walk test for determining autonomic dysfunction in diabetic patients compared with non-diabetic patients during preoperative evaluation: A prospective observational controlled study
Authors: Noorain Naqiya , Nizami Mohammed Ismail , Padhy Shibani , Jayaram Kavitha 
Published: February 2025

Background: The incidence of perioperative cardiovascular morbidity and mortality in diabetic patients is due to impaired cardiovascular response to exercise caused by impairment in peripheral blood flow and oxygen diffusion to the exercising muscle. Preoperative bedside testing by 6-min walk for autonomic dysfunction in diabetic patients might reduce haemodynamic instability and cardiovascular complications. Methods and materials: Sixty patients with American Society of Anaesthesiologists grade 1 classification and 60 diabetic patients (total of 120) of age 30–60 years, of either sex, undergoing elective surgery under general anaesthesia were recruited. A 6-min walk test, breath-holding time and five clinical bedside tests for autonomic dysfunction were performed. Based on that, patients were classified into non-diabetic patients (group C), diabetic patients without autonomic dysfunction (group D) and diabetic patients with autonomic dysfunction (group A). Results: The incidence of autonomic dysfunction was 31.7%. Among all the parameters, breath-holding time, steps and distance covered by 6-min walk test was significantly less in group A. The incidence of intraoperative tachycardia and hypotension was significantly higher (78.9% and 57.9%, respectively) in group A. Conclusion: The 6-min walk test can be used as one of the preliminary tests for detection of cardiac autonomic neuropathy in diabetes since it had association with distance covered and intraoperative haemodynamic disturbances.