bluuebunny/crossref_metadata_2025_split huggingface dataset:
Multimodal Outcomes of Early Open Extended Midline Strip Craniectomy With Bilateral Microbarrel Staving for Correction of Isolated Nonsyndromic Sagittal Synostosis
Authors: Plonczak Agata M. , Hennedige Anusha , Kearney Anna , Blumenow Wendy , Piggott Katie , Garvie Laura , Milligan Claudine , Duncan Christian , Parks Chris James 
Published: October 2024

Aim:
Sagittal synostosis is the most common craniosynostosis. The aim of surgery is to preserve cognitive function and to correct the morphologic changes. In our unit, the authors offer strip craniectomy and microbarrel staving (SMB) performed at 16 to 22 weeks. This study aims to ascertain the 7-year outcome of scaphocephaly correction by SMB. The authors investigate whether the improvement in cranial index (CI) is sustained over time, and report speech and language and neurodevelopmental outcomes.

Methods:
All nonsyndromic patients with sagittal synostosis who underwent SMB between 2009 and 2012 were identified from a prospectively created database that recorded anthropometric measurements, quality metrics, and neurodevelopmental outcomes.

Results:
A total of 27 patients were analyzed. The mean CI preoperatively was 67.5% (±3.5), and at 7 years 78% (±4.8). Regarding neurodevelopmental outcomes at 7 years, SDQ responses did not highlight any concerns for social, emotional, or behavioral outcomes. The vast majority of those who completed a WASI-II assessment performed within the average ranges in terms of cognitive ability. In terms of speech and language 70% of subjects demonstrated receptive language within normal level (WNL). Seventy-seven percent of subjects demonstrated expressive language WNL.

Conclusions:
In conclusion, after 7 years of follow-up, early open extended SMB is a safe and effective method for correction of isolated nonsyndromic isolated sagittal synostosis. Across the neurodevelopmental measures and assessments, the children in the current study appeared to perform within expected ranges. Speech and language problems are more prevalent than in the general population.
Postpartum hormonal contraceptive use and risk of depression
Authors: Larsen Søren Vinther , Ozenne Brice , Mikkelsen Anders Pretzmann , Liu Xiaoqin , Madsen Kathrine Bang , Munk-Olsen Trine , Lidegaard Øjvind , Frokjaer Vibe G 
Published: October 2024

AbstractImportanceHormonal contraceptive (HC) use is associated with depression. It is, however, unknown whether this is also true in the postpartum period where women have a heightened depression risk and are routinely offered to start HC.ObjectiveTo determine if HC initiation postpartum is associated with depression development within 12 months postpartum.DesignA cohort study based on Danish register data.SettingNationwide population-based.ParticipantsAll primiparous women in Denmark who gave birth from 1997 through 2022. Women were excluded if they had a depression within 24 months prior to delivery, had multiple birth or stillbirth, or a diagnosis of breast cancer or liver tumor.ExposureHC initiation within 12 months postpartum treated as a time-varying exposure. HC types were categorized as combined oral contraceptives (COCs), combined non-oral contraceptives (CNOCs), progestogen-only pills (POPs), and progestogen-only non-oral contraceptives (PNOCs).Main Outcome and MeasureDepression defined as filling an antidepressant prescription or receiving a hospital depression diagnosis. Adjusted hazards ratios (HRs) and average absolute risks of depression within 12 months postpartum were estimated using Cox regression and a G-formula estimator.ResultsOf 610,038 first-time mothers, 41% initiated HC within 12 months postpartum (mean [SD] age; 27.6 [4.3] years for HC users vs. 29.6 [4.8] years for non-users). HC initiation was associated with subsequent depression with a HR of 1.49 (95% CI, 1.42;1.56) compared to no use resulting in an increase in the 12-month absolute risk from 1.36% (1.32;1.39) to 1.54% (1.50;1.57).The HR for COC was 1.72 (1.63;1.82); CNOC 1.97 (1.64;2.36); PNOC 1.40 (1.25;1.56). POP exposure was associated with an initially reduced instantaneous risk but it was increased late postpartum. Investigating the impact of timing of initiation showed that the earlier COC was initiated postpartum the higher the associated rate ratio of depression.Conclusions and RelevanceHC initiation postpartum was associated with 49% higher instantaneous depression risk resulting in an increase in 12-month risk from 1.36% to 1.54% in the observed population. Such associated risk was higher the earlier it was initiated postpartum, at least for COC. This raises the question if depression incidence postpartum is inflated by routine HC initiation after childbirth.
FBXO22deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature
Authors: Ramakrishna Navin B. , Johmura Yoshikazu , Ali Nur Ain , Mohamad Sahari Umar Bin , Alghamdi Malak , Bauer Peter , Khan Suliman , Ordoñez Natalia , Ferreira Mariana , Pinto Basto Jorge , Alkuraya Fowzan S. , Faqeih Eissa Ali , Mori Mari , Almontashiri Naif A. M. , Al Shamsi Aisha , ElGhazali Gehad , Abu Subieh Hala , Al Ojaimi Mode , El-Hattab Ayman W. , Al-Kindi Said Ahmed Said , Alhashmi Nadia , Alhabshan Fahad , Al Saman Abdulaziz , Tfayli Hala , Arabi Mariam , Khalifeh Simone , Taylor Alan , Alfadhel Majid , Jain Ruchi , Sinha Shruti , Shenbagam Shruti , Ramachandran Revathy , Altunoğlu Umut , Jacob Anju , Thalange Nandu , Shin Jay W. , Al-Maawali Almundher , Al-Shidhani Azza , Al-Futaisi Amna , Rabea Fatma , Chekroun Ikram , Al Marri Mohamed , Ohta Tomohiko , Nakanishi Makoto , Alsheikh-Ali Alawi , Ali Fahad R. , Bertoli-Avella Aida M. , Reversade Bruno , Abou Tayoun Ahmad 
Published: October 2024

ABSTRACTFBXO22encodes an F-box protein which acts as a substrate-recognition component of the SKP1-CUL1-F-box (SCF) E3 ubiquitin ligase complex. Despite its known roles in the post-translational ubiquitination and degradation of specific substrates, including histone demethylases, the impact of FBXO22 on human development remains unknown. Here, we characterize a pleiotropic syndrome with prominent prenatal onset growth restriction and notable neurodevelopmental delay across 14 cases from 12 families. Through exome and genome sequencing, we identify three distinct homozygous loss-of-functionFBXO22variants segregating with the disease: p.(Arg53Serfs*13), p.(Pro3Leufs*3) and p.(Val240Alafs*6), all predicted to lead to premature translation termination due to frameshift effects. We confirm that patient-derived primary fibroblasts are bereft of FBXO22 and show increased levels of the known substrate histone H3K9 demethylase KDM4B. Accordingly, we delineate a unique epigenetic signature for this disease in peripheral blood. Altogether, we identify and demonstrate that FBXO22 deficiency leads to a pleiotropic syndrome in humans encompassing growth restriction and neurodevelopmental delay, the pathogenesis of which may be explained by broad chromatin alterations.
Racialised experience of detention under the Mental Health Act: a photovoice investigation of practice, policy and legislation
Authors: Bhui Kamaldeep , Mooney Roisin , Joseph Doreen , McCabe Rose , Newbigging Karen , McCrone Paul , Raghavan Ragu , Keating Frank , Husain Nusrat 
Published: October 2024

AbstractBackgroundThe rates of compulsory admission and treatment (CAT) are rising in mental health systems in the UK. These disparities are reported among migrants and black and ethnic minorities in Europe and North America. Lived experience perspectives from marginalised and multiple disadvantaged people are neglected in research yet may offer vital and novel insights into preventive opportunities to reduce coercive careMethodsWe conducted a participatory photovoice research process to assemble the life- experiences of people within two years of receiving CAT. We purposively sampled to maximise diversity by age, ethnicity, and different ‘sections’ of the Mental Health Act (England & Wales, 1983, 2007) from 8 health systems in England. The images, captions, and reflective narratives were deepened over 3 workshops before thematic analysis.OutcomesForty-eight ethnically diverse people with lived experience of CAT contributed over 500 images and 30 hours of transcribed narratives. Participants lives showed significant complexity in terms of multimorbidity, adverse childhood experiences, and carer roles. The findings suggest insufficient co-ordination to prevent CAT despite early help-seeking, not being taken seriously when seeking help, hostility and dismissive responses from professionals; unnecessary police involvement which was distressing, stigmatising, and risked criminalisation. Participants wanted more advocacy given their vulnerability and inability to process information in crisis, as well as therapeutic and creative activities in inpatient environments. Participants recommended more family and carer involvement, and more appropriate, frequent and personalised information about care options, appeals processes, levels of restriction, and seclusion. A major concern was the lack of highly skilled staff, trauma-informed care, and therapies into the community.InterpretationWe showed epistemic injustice in care processes and recommend better standards for essential skills, prevention, trauma informed care and therapies. Criminalising and coercive responses must also be reduced.FundingThis study/project is funded by the National Institute for Health Research (NIHR) Policy Research Programme [NIHR201704]. The views expressed are those of the author and not necessarily those of the NIHR or the Department of Health and Social Care
End-to-End Machine Learning based Discrimination of Neoplastic and Non-neoplastic Intracerebral Hemorrhage on Computed Tomography
Authors: Nawabi Jawed , Schulze-Weddige Sophia , Baumgärtner Georg Lukas , Orth Tobias , Dell Orco Andrea , Morotti Andrea , Mazzacane Federico , Kniep Helge , Hanning Uta , Scheel Michael , Fiehler Jens , Penzkofer Tobias 
Published: October 2024

AbstractPurposeTo develop and evaluate an automated segmentation and classification tool for the discrimination of neoplastic and non-neoplastic intracerebral hemorrhage (ICH) on admission Computed Tomography (CT) utilizing images containing hemorrhage and perihematomal edema.Materials and MethodsThe models were developed and evaluated using a retrospective dataset of patients who presented with acute ICH of unknown cause upon admission, using CT scans obtained from a single institution between January 2016 and May 2020 for both training and testing. Etiology of ICH were binarized into non-neoplastic and neoplastic ICH according to follow-up MRI results based on the ATOMIC ICH classification. Masks for ICH and PHE were manually segmented. Two separate models were trained: 1) An nnU-Net segmentation model 2) A ResNet-34 classification model. An end-to-end tool was evaluated by concatenating the two models which allowed the segmentation model to preprocess the images for the classification model. Performance enhancement was assessed by fine-tuning the model on a randomly selected, small subset of the external cohort. To assess the model’s generalizability, the performance was additionally validated on an external dataset. Evaluation metrics were accuracy (Acc), area under the curve (AUC) and corresponding sensitivities and specificities.ResultsA total of 291 patients were included of whom 116 (39.86%) presented with neoplastic and 175 (60.14%) with non-neoplastic ICH. The end-to-end classification tool achieved an Acc of 86% and an AUC of 85% with a sensitivity and specificity of 80% and 93% in the test set. On the external validation cohort (n=58), the classification pipeline achieved an AUC of 68% and Acc of 66% (sensitivity 64%; specificity 67%). Fine-tuning on a selected small subset of the external cohort enhanced performance, achieving an AUC and accuracy of 70% (sensitivity 70%; specificity 71%).ConclusionAn end-to-end classification tool achieved a high diagnostic performance and generalizability in classifying neoplastic from non-neoplastic ICH on CT, suggesting a robust framework for a potential clinical implementation as a decision-aided tool in early ICH management.
Outcomes of endoscopic ultrasound-guided transmural drainage for postoperative peripancreatic fluid collection with an external drainage-first approach
Authors: Noda Jun , Takano Yuichi , Tamai Naoki , Yamawaki Masataka , Azami Tetsushi , Niiya Fumitaka , Nishimoto Fumiya , Nagahama Masatsugu 
Published: October 2024

AbstractObjectivesEndoscopic ultrasound-guided transmural drainage (EUS-TD) is widely performed to treat postoperative peripancreatic fluid collection (POPFC). Recent reports on EUS-TD lack a consensus on stent selection. This study aimed to assess the efficacy of EUS-TD for POPFC using an external drainage-first approach.MethodsWe retrospectively examined the medical records of patients with POPFC treated with EUS-TD using external drainage between October 2016 and July 2024. Technical success was defined as successful placement of the external drainage. Clinical success was defined as the disappearance of fluid collection on follow-up computed tomography without additional intervention.ResultsThis study included 14 patients. The median duration from surgery to endoscopic treatment was 13 (range: 11–26) days. The median procedural time was 26 (range: 13–35) min. The technical success rate was 100%, and 6 Fr endoscopic nasocystic drainage was performed in all patients. The clinical success rate was 64.3%, and no adverse events were observed. In 35.7% (5/14) of the patients, additional endoscopic internal drainage was required; the POPFC was successfully controlled in all patients. The reasons for conversion to internal drainage were prolonged inflammation in one patient, remaining fluid collection in one patient, and requests from surgeons in three patients.ConclusionsEUS-TD for POPFC with external drainage proved to be safe and effective, with a short procedure time. However, in certain patients, additional internal drainage is required.
Social Determinants of Health and Functional Brain Connectivity Predict Long-Term Physical Activity in Older Adults with a New Cardiovascular Diagnosis
Authors: Thovinakere Nagashree , Ghosh Satrajit S. , Itturia-Medina Yasser , Geddes Maiya R. 
Published: October 2024

AbstractBackgroundPhysical activity is essential for preventing cognitive decline, stroke and dementia in older adults. A new cardiovascular diagnosis offers a critical window for positive lifestyle changes. However, sustaining physical activity behavior change remains challenging and the underlying mechanisms are poorly understood.MethodsTo identify the neural, behavioral and contextual predictors of successful longer-term behavior change after a new cardiovascular diagnosis, we used support vector machine learning to predict changes in moderate-to-vigorous physical activity over four years in 295 cognitively unimpaired older adults from the UK Biobank, testing three models that incorporated baseline: (i) demographic, cognitive, and contextual factors, (ii) baseline resting-state functional connectivity alone, and (iii) combined multimodal features across all predictors.ResultsThe combined multi-modal model had the highest predictive power (r=0.28, p=0.001). Key predictors included greenspace access, social support, retirement status, executive function, and between-network functional connectivity within the default mode, frontoparietal control and salience/ventral attention networks.ConclusionsThese findings underscore the importance of social and structural determinants of health and uncover neural mechanisms that may support lifestyle modifications. In addition to furthering our understanding of the mechanisms underlying successful physical activity behavior change, these findings help to guide the design of interventions and health policy with the ultimate goal of preventing cardiovascular disease burden and late-life cognitive decline.
Mental Effort and Counterfactuals Modulate Language Understanding: ERP Evidence in Older Adults
Authors: Salas-Herrera José Luis , Martínez Mabel Urrutia , Hinrichs Nicolás Andrés 
Published: October 2024

AbstractThe relationship between language and physical effort in older adults is a field that is scarcely explored in the literature associated with embodiment. An electrophysiological experiment was conducted to explore the modulation of two linguistic contexts: factual and counter-factual, in relation to physical and mental effort using electrophysiological components. 27 older adults (M = 70.34 years, SD = 4.82, 15 women and 12 men) read sentences on a computer screen and responded to an activation test. The results indicate that the linguistic, factual, and counterfactual contexts, as well as the embodiment parameter of mental effort modulate the understanding of language and participate with variable preponderance in different time windows. Furthermore, counterfactuality seems to facilitate the processing of high mental effort, and both factual and counterfactual language elicit the N400 component. These findings contribute to the growing body of research on embodied cognition by providing novel insights into the nuances of cognitive demands involved in language processing in aging population, paving the way for developing targeted interventions aimed at improving communication and cognitive well-being in older adults.
A novel method for harmonization of PET image spatial resolution without phantoms
Authors: Carbonell Felix , Zijdenbos Alex P. , Hempel Evan , Hajós Mihály , Bedell Barry J. ,   Alzheimer’s Disease Neuroimaging Initiative
Published: October 2024

AbstractThe most common approach for estimating the spatial resolution of PET images in multi-center studies typically uses Hoffman phantom data as a surrogate. Specifically, the phantom-based matching resolution approach assumes that scanned phantom PET images are well approximated by a ground truth, noise-free digital phantom convolved with a Gaussian kernel of unknown size. The size of the kernel is then estimated by an exhaustive search on the amount of blurring needed to match the smoothed digital phantom to a particular scanned phantom image. Unfortunately, Hoffman phantom images may not always be readily available, and phantom-based approaches may yield sub-optimal results. We propose a new, computational approach that allows estimation of spatial resolution directly from the PET image itself. We generalized the so-called logarithmic intensity plots method to the 3D case to perform a spatial resolution estimation in both axial and in-plane directions of the PET images. The proposed approach was applied to two different cohorts. The first cohort consisted of [18F]florbetapir amyloid PET images and matching phantoms coming from a Phase II clinical trial and includes different scanner models and/or orientation and grid reconstructions. The second cohort included β-amyloid, FDG and tau PET images from the Alzheimer’s Disease Neuroimaging Initiative (ADNI) study. We obtained in-plane and axial resolution estimators that vary between 3.5 mm and 8.5 mm for both PET and matching phantom images. In both cases, we obtained small across-subject variability in groups of images sharing the same PET scanner model and reconstruction parameters. For human PET images, we also obtained a strong cross-tracer and longitudinal consistency in the spatial resolution estimators. Our novel approach does not only eliminate the need for surrogate brain phantom data, but also provides a general framework that can be applied to a wide range of tracers and other image modalities, such as SPECT.
Maintenance of neuronal TDP-43 expression requires axonal lysosome transport
Authors: Ryan Veronica H. , Lawton Sydney , Reyes Joel F. , Hawrot James , Frankenfield Ashley M. , Seddighi Sahba , Ramos Daniel M. , Faghri Faraz , Johnson Nicholas L. , Zou Jizhong , Kampmann Martin , Replogle John , Yuan Hebao , Johnson Kory R. , Maric Dragan , Hao Ling , Nalls Mike A. , Ward Michael E. 
Published: October 2024

AbstractTDP-43 mislocalization and pathology occurs across a range of neurodegenerative diseases, but the pathways that modulate TDP-43 in neurons are not well understood. We generated a Halo-TDP-43 knock-in iPSC line and performed a genome-wide CRISPR interference FACS-based screen to identify modifiers of TDP-43 levels in neurons. A meta-analysis of our screen and publicly available screens identified both specific hits and pathways present across multiple screens, the latter likely responsible for generic protein level maintenance. We identified BORC, a complex required for anterograde lysosome transport, as a specific modifier of TDP-43 protein, but not mRNA, levels in neurons. BORC loss led to longer half-life of TDP-43 and other proteins, suggesting lysosome location is required for proper protein turnover. As such, lysosome location and function are crucial for maintaining TDP-43 protein levels in neurons.
Population genomics uncover loci for trait improvement in the indigenous African cereal tef (Eragrostis tef)
Authors: Jones Maximillian R. W. , Kebede Worku , Teshome Abel , Girija Aiswarya , Teshome Adanech , Girma Dejene , Brown James K. M. , Quiroz-Chavez Jesus , Jones Chris S. , Wulff Brande B. H. , Assefa Kebebew , Tadele Zerihun , Mur Luis A. J. , Chanyalew Solomon , Uauy Cristobal , Shorinola Oluwaseyi 
Published: October 2024

AbstractTef (Eragrostis tef) is an indigenous African cereal that is gaining global attention as a gluten-free “superfood” with high protein, mineral, and fibre contents. However, tef yields are limited by lodging and by losses during harvest owing its small grain size (150x lighter than wheat). Breeders must also consider a strong cultural preference for white-grained over brown-grained varieties. Tef is relatively understudied with limited “omics” resources. Here, we resequenced 220 tef accessions from an Ethiopian diversity collection and also conducted multi-locational phenotyping for 25 agronomic and grain traits. Grain metabolome profiling revealed differential accumulation of fatty acids and flavonoids between white and brown grains. We conductedk-mer and SNP-based genome wide association and uncovered novel marker-trait associations. A significant 70 kb peak for panicle morphology contained the tef orthologue of riceqSH1, a transcription factor regulating inflorescence morphology in cereals. We also observed a previously unknown relationship between grain size, colour, and fatty acids. These traits were highly associated with retrotransposon insertions in homoeologues ofTRANSPARENT TESTA 2, a known regulator of grain colour. Our study provides valuable resources for tef research and breeding, facilitating the development of improved cultivars with desirable agronomic and nutritional properties.