bluuebunny/crossref_metadata_2025_split huggingface dataset:
C9orf72 Gene-Associated Frontotemporal Dementia Mimicking Autoimmune Pathology
Authors: Hoshina Yoji , Moser Clark , Wright Melissa A. , Sunderman Elizabeth , Livsey Charles T. , Spoth Emily , Clardy Stacey L. , Cliatt Brown Christine J. 
Published: October 2024

Introduction:
The C9orf72 mutation can manifest in diverse clinical ways, including rapid cognitive decline, parkinsonism, or late-life neuropsychiatric symptoms, sometimes mimicking autoimmune encephalitis.

Case Report:
A 64-year-old female presented to the autoimmune neurology clinic with rapidly progressive dementia (RPD) associated with episodes of headache, confusion, auditory hallucinations, and abnormal electroencephalogram. She was treated empirically at an outside hospital for possible autoimmune encephalitis with intravenous methylprednisolone, but there was no improvement, and rapid cognitive decline continued. Family history was notable for RPD with akinetic mutism in her sister, sudden severe depression followed by parkinsonism with progressive dementia in her father in his 60s, and late-life gradually progressive dementia in her mother. Additional testing revealed a low titer positive contactin-associated protein-like 2 (CASPR2) immunoglobulin G (IgG) in the serum and elevated CSF 14-3-3 protein. CSF CASPR2 IgG and real-time quaking-induced conversion for Creutzfeldt-Jakob disease were negative. Brain MRI showed normal parenchymal volume. Genetic testing was conducted, which identified a heterozygous pathogenic hexanucleotide tandem repeat expansion in the C9orf72 gene.

Conclusion:
This case underscores the phenotypic variability of C9orf72 mutation and the importance of a detailed family history exploring young or atypical deaths and neuropsychiatric symptoms or behavioral changes. Genetic etiologies are crucial to consider in those with a family history concerning autosomal dominant inheritance patterns of early-onset dementia, parkinsonism, or late-onset psychiatric disease. Emphasis is placed on considering alternative etiologies early, particularly when there is no response to first-line immunomodulation for suspected autoimmune dementia.
Descriptive Study of GoBabyGo Program Practices and Evaluation Processes
Authors: Ziegler Kelsey , Da Silva Carolyn P. , Mitchell Katy , Baxter Mary F. , Bickley Christina 
Published: October 2024

Purpose:
The aim of this study was to describe existing GoBabyGo (GBG) programs with physical or occupational therapist (PT or OT) involvement and identify eligibility criteria and evaluation processes of organizations that build modified ride-on cars (MROCs).

Methods:
Forty-four PTs and OTs completed a survey including descriptive information about GBG programs, barriers and facilitators, and functional aspects of the programs such as inclusion and exclusion criteria, outcome measure use, and follow-up practices.

Results:
Findings demonstrated the heterogeneous nature of GBG programs. GBG programs most commonly serve 2 to-5-year-olds with cerebral palsy, spina bifida, and chromosomal abnormalities. Outcome measure use and follow-up was minimal, and successful MROC use definitions varied from independent driving to passive use.

Conclusions:
Clinicians can use this information to help improve existing GBG programs and start new chapters as well as make appropriate referrals for clients who may benefit from a MROC.
Assessment of Emphysema on X-ray Equivalent Dose Photon-Counting Detector CT
Authors: Kerber Bjarne , Ensle Falko , Kroschke Jonas , Strappa Cecilia , Larici Anna Rita , Frauenfelder Thomas , Jungblut Lisa 
Published: October 2024

Objectives
The aim of this study was to evaluate the feasibility and efficacy of visual scoring, low-attenuation volume (LAV), and deep learning methods for estimating emphysema extent in x-ray dose photon-counting detector computed tomography (PCD-CT), aiming to explore future dose reduction potentials.

Methods
One hundred one prospectively enrolled patients underwent noncontrast low- and chest x-ray dose CT scans in the same study using PCD-CT. Overall image quality, sharpness, and noise, as well as visual emphysema pattern (no, trace, mild, moderate, confluent, and advanced destructive emphysema; as defined by the Fleischner Society), were independently assessed by 2 experienced radiologists for low- and x-ray dose images, followed by an expert consensus read. In the second step, automated emphysema quantification was performed using an established LAV algorithm with a threshold of −950 HU and a commercially available deep learning model for automated emphysema quantification. Automated estimations of emphysema extent were converted and compared with visual scoring ratings.

Results
X-ray dose scans exhibited a significantly lower computed tomography dose index than low-dose scans (low-dose: 0.66 ± 0.16 mGy, x-ray dose: 0.11 ± 0.03 mGy, P < 0.001). Interreader agreement between low- and x-ray dose for visual emphysema scoring was excellent (κ = 0.83). Visual emphysema scoring consensus showed good agreement between low-dose and x-ray dose scans (κ = 0.70), with significant and strong correlation (Spearman ρ = 0.79). Although trace emphysema was underestimated in x-ray dose scans, there was no significant difference in the detection of higher-grade (mild to advanced destructive) emphysema (P = 0.125) between the 2 scan doses. Although predicted emphysema volumes on x-ray dose scans for the LAV method showed strong and the deep learning model excellent significant correlations with predictions on low-dose scans, both methods significantly overestimated emphysema volumes on lower quality scans (P < 0.001), with the deep learning model being more robust. Further, deep learning emphysema severity estimations showed higher agreement (κ = 0.65) and correlation (Spearman ρ = 0.64) with visual scoring for low-dose scans than LAV predictions (κ = 0.48, Spearman ρ = 0.45).

Conclusions
The severity of emphysema can be reliably estimated using visual scoring on CT scans performed with x-ray equivalent doses on a PCD-CT. A deep learning algorithm demonstrated good agreement and strong correlation with the visual scoring method on low-dose scans. However, both the deep learning and LAV algorithms overestimated emphysema extent on x-ray dose scans. Nonetheless, x-ray equivalent radiation dose scans may revolutionize the detection and monitoring of disease in chronic obstructive pulmonary disease patients.
Ventral Hernia Repair With a Hybrid Absorbable-permanent Preperitoneal Mesh
Authors: Goldblatt Matthew I. , Reynolds Matthew , Doerhoff Carl R. , LeBlanc Karl , Leyba Mario , Mallico Eric J. , Linn John G. 
Published: October 2024

Objective:
To analyze device safety and clinical outcomes of ventral hernia repair with the GORE SYNECOR Preperitoneal Biomaterial (PRE device), a permanent high-strength mesh with bioabsorbable web scaffold technology.

Materials and Methods:
This multicenter retrospective review analyzed device/procedure endpoints and patient-reported outcomes in patients treated for hernia repair ≥1 year from study enrollment.

Results:
Included in this analysis were 148 patients with a mean age of 56 years; 66.2% met the Ventral Hernia Working Group grade 2 classification. Median hernia size was 30.0 cm2 and 58.8% of patients had an incisional hernia. Repairs were primarily a robotic (53.4%) or open approach (41.9%). All meshes were placed extraperitoneal. Procedure-related adverse events within 30 days occurred in 13 (8.8%) patients and included 7 (4.8%) patients with surgical site infection, 2 (1.4%) with surgical site occurrence (SSO), 4 (2.7%) requiring readmission, and 3 (2.0%) who had reoperation. The rate of SSO events requiring procedural intervention was 2.7% (4 patients) through 30 days and 3.4% (5 patients) at 12 months. The rate of procedure-related surgical site infection remained at 4.8% through 12 months (no further reports after 30 d) and 3.4% for SSO (2 reports after 30 d). There were no site-reported clinically diagnosed hernia recurrences throughout the study. Median patient follow-up including in-person visit, physical examination, reported adverse event, explant, death, and questionnaire response was 28 months (n = 148). Median patient follow-up with patient questionnaire was 36 months (n = 88).

Conclusions:
Use of the PRE device, which incorporates the proven advantages of both an absorbable synthetic mesh and the long-term durability of a permanent macroporous mesh, is safe and effective in complex ventral hernia repairs. When used in the retromuscular space, the combination of these 2 materials had lower wound complications and recurrence rates than either type of material alone.
Artificial intelligence and machine learning in disorders of consciousness
Authors: Lee Minji , Laureys Steven 
Published: October 2024

Purpose of review
As artificial intelligence and machine learning technologies continue to develop, they are being increasingly used to improve the scientific understanding and clinical care of patients with severe disorders of consciousness following acquired brain damage. We here review recent studies that utilized these techniques to reduce the diagnostic and prognostic uncertainty in disorders of consciousness, and to better characterize patients’ response to novel therapeutic interventions.

Recent findings
Most papers have focused on differentiating between unresponsive wakefulness syndrome and minimally conscious state, utilizing artificial intelligence to better analyze functional neuroimaging and electroencephalography data. They often proposed new features using conventional machine learning rather than deep learning algorithms. To better predict the outcome of patients with disorders of consciousness, recovery was most often based on the Glasgow Outcome Scale, and traditional machine learning techniques were used in most cases. Machine learning has also been employed to predict the effects of novel therapeutic interventions (e.g., zolpidem and transcranial direct current stimulation).

Summary
Artificial intelligence and machine learning can assist in clinical decision-making, including the diagnosis, prognosis, and therapy for patients with disorders of consciousness. The performance of these models can be expected to be significantly improved by the use of deep learning techniques.
Impact of Head and Neck Multidisciplinary Clinic on Treatment Package Time During 2 Years of the COVID-19 Pandemic: A Single-Institution Experience
Authors: Khaja Sobia F , Wilke Christopher T 
Published: October 2024

BACKGROUND:
Prolongation of treatment package time is strongly associated with inferior oncologic outcomes. We examine the effect of creation of a multidisciplinary head and neck clinic on treatment package times.

STUDY DESIGN:
This was a retrospective cohort study evaluating treatment package time in patients receiving adjuvant radiation through a multidisciplinary clinic compared with standard clinics at a single academic institution between July 31, 2020, and July 31, 2022.

RESULTS:
Adjuvant radiotherapy was administered to 23 patients in multidisciplinary clinic, 68 patients in standard clinic and 17 patients in satellite clinics. Patients seen in multidisciplinary clinic began adjuvant radiation sooner (median 35 vs 41 vs 48 days, p = 0.01) with more compact treatment package times (median 78 vs 84 vs 86 days, p = 0.003). Nine patients (13%) in standard clinics and 4 patients (24%) at the satellite clinics had adjuvant treatment package times exceeding 100 days. No patient seen in multidisciplinary clinic had treatment package times exceeding 100 days.

CONCLUSIONS:
Colocalization of radiation oncology and otolaryngology care in multidisciplinary clinic substantially improved time to postoperative radiotherapy and treatment package times. This is likely due to the identification of patients requiring adjuvant radiation earlier in their clinical presentation which in turn allowed for advanced planning and minimization of delays in initiation of adjuvant radiation.
Focal persistence and phylodynamics of Heartland virus in Georgia
Authors: Bellman Stephanie , Shariatzadeh Nima , Ferrell Tyshawn , Long Audrey , Aeschleman Leah , Fausett Ellie , Walsh Tim , Cleary Seana , Roeske Isabella , Ojeda Erick , Schwab Madison , Dakanay Hannah , Telford Sam R , Goethert Heidi K , Vazquez-Prokopec Gonzalo , Piantadosi Anne 
Published: October 2024

AbstractHeartland virus (HRTV) is an emerging tick-bone virus associated with severe illness in the U.S. There are large gaps in knowledge of HRTV diversity, evolution, and transmission due to a paucity of HRTV-positive samples and genome sequences. We identified a focal site of HRTV- positiveAmblyomma americanumticks in central Georgia and developed a novel multiplex- amplicon sequencing assay to generate full HRTV genome sequences. By screening over 21,000 field-collected ticks from 2021-2023, we identified six positive pools. Five were collected from the site in central Georgia where our group first detected HRTV-positive ticks in 2019, and one from a site in western Georgia approximately 175 km away. The HRTV genome sequences from Georgia were highly related, even across this distance and over five years. Reference HRTV genome sequences from across the U.S. were also geographically clustered. Time-scaled phylogenetic analysis suggested recent spread of HRTV in the U.S., with all available sequences sharing a common ancestor within the last 300 years, and sequences from Georgia sharing a common ancestor within the last 40 years. Our observed spatial clustering of HRTV and the high degree of genetic conservation in our persistent focus suggest the importance of small spatial dynamics in HRTV transmission ecology.Author SummaryHeartland virus (HRTV) was first discovered in humans in 2009 and has since caused over 60 cases of severe and fatal disease in the United States. HRTV is transmitted by the lone star tick,Amblyomma americanum, across the Southeast, East coast, and Midwest. Little information is known about how this virus circulates and changes across time and space due to a lack of genetic data. Here, we created a new procedure to generate more genetic sequence data for HRTV and collected over 21,000 ticks to screen for HRTV across three years in Georgia. We generated 6 new HRTV sequences and compared them to existing sequences from our group in Georgia, and across the country, finding evidence of regional clustering of HRTV and highly related HRTV across time in Georgia. Our analyses additionally found that this virus was likely introduced to the U.S. in the last 300 years. Our study provides new context and information in understanding the landscape and transmission of HRTV in the U.S.
Virological Characterization of a New Isolated Strain of Andes Virus Involved in the Recent Person-to-Person Transmission Outbreak Reported in Argentina
Authors: Coelho Rocío M. , Kehl Sebastian , Periolo Natalia , Biondo Emiliano , Alonso Daniel O. , Perez Celeste , Do Porto Darío Fernández , Palacios Gustavo , Edelstein Alexis , Bellomo Carla , Martinez Valeria P. 
Published: October 2024

SummaryOn November 2018, a person-to-person transmission outbreak of Andes virus (ANDV) began in the small town of Epuyen, Argentina. The strain involved demonstrated a high capacity for sustained transmission among the human population requiring the implementation of quarantine measures, rigorous contact tracing, isolation of close contacts, and active clinical monitoring to prevent further spread. In this study, we report the isolation of this strain, which we name the ARG-Epuyen after just three passages in cell culture. Complete sequencing revealed only a single amino acid change post-isolation, revealing that it is a non-adapted, wild-type ANDV strain, and its isolation probably represents a critical step toward the development of medical countermeasures against this emerging pathogen. The pathogenicity and transmissibility potential of ARG-Epuyen were evaluated in hamsters, the only animal model for Hantavirus Pulmonary Syndrome. Additionally, this strain was compared with ARG, an ANDV strain previously isolated from the same geographical area in the Argentinian Patagonia, from a rodent specimen. Our findings revealed high infectiousness and efficient hamster-to-hamster transmission through direct contact experiments, although ARG-Epuyen appeared to be less pathogenic than ARG.
The Food, Activity, Screens, and Teens (FAST) Study; Design and protocol
Authors: Sirard John R. , Sibeko Lindiwe , Pachucki Mark C. , Kitts James A. 
Published: October 2024

ABSTRACTThe Food, Activity, Screens, and Teens (FAST) Study was a school-based prospective cohort study, aiming to identify mechanisms of peer influence on weight-related behaviors (WRBs) among early adolescents. In 2017-18, FAST investigators conducted focus group interviews and field observations of sixth grade students at four ethnoracially diverse urban middle schools, then administered pilot surveys in two of the schools. In Fall 2018, investigators recruited a cohort of sixth graders in the same four schools for a three-year panel study, with four waves per year. Each wave measured height and weight, demographic characteristics, WRBs (physical activity, screen time, and dietary patterns), classes and activities, and social networks among peers. Peer network measures included friendship, social sentiments (liking/disliking), online and face to face interaction, kinship, cohabiting, and shared WRBs. The pandemic school closure in March 2020 interrupted fieldwork after wave 6, and the next five waves employed online and mail surveys while schools operated remotely. In Spring 2022, after schools reopened, investigators followed a subset of students into high school to collect a twelfth wave of data.
Computer-Aided Reading of Chest Radiographs for Pediatric Tuberculosis: Current Status and Future Directions
Authors: DuPont Mackenzie , Castro Robert , Kik Sandra V. , Palmer Megan , Seddon James A. , Jaganath Devan 
Published: October 2024

SUMMARYComputer-aided detection (CAD) systems for automated reading of chest X-rays (CXRs) have been developed and approved for tuberculosis (TB) triage in adults, but not in children. However, CXR is frequently the only adjunctive tool to clinical assessment for the evaluation of pediatric TB in primary health settings, and children would benefit from CAD models that can detect their unique clinical and radiographic features. The current literature on CAD CXR algorithms for detecting TB and other pulmonary infections in children is limited, but highlights promising models and approaches. To advance CAD for childhood TB, large, diverse, pediatric CXR datasets are required that are linked to standardized clinical and radiographic TB classifications. These datasets could be used to train or fine-tune existing algorithms for TB screening, diagnosis and severity stratification. It is critical to include children in CAD models to increase equity and reduce the global burden of TB disease.
Mitigating nitrous oxide emission by an ultra-fast bioprocess enabling the removal of high concentration N2O
Authors: Maeda Ryota , Sato Mikiko , Minamisawa Kiwamu , Kubota Kengo 
Published: October 2024

AbstractNitrous oxide (N₂O) is known as a greenhouse gas as well as an ozone-depleting substance. Wastewater treatment process is one of the sources of N2O emission, and the high concentrations of N₂O in off-gas were reported from an anaerobic ammonium oxidation process. This study developed a novel N₂O removal process using a down-flow hanging sponge reactor to remove high concentrations of N₂O. More than 96% removal efficiencies were achieved for up to 300 ppm N₂O with 3 min gas retention time (GRT), and more than 99% removal efficiency was obtained for 2,000 ppm N2O with 18 min GRT. A maximum removal rate of 161 ± 26 mg-N/L-reactor/day was achieved, that was over 10 times faster than the pioneering process. Kinetic analysis indicated that the N₂O dissolution rate is a crucial factor in determining the N₂O removal rate in the reactor. Various N₂O reducers belonging to both clade I and II were detected in reactors, andAzonexuswas thought to play a key role.
Enhancement of Enzymatic Activity by Biomolecular Condensates through pH Buffering
Authors: Stoffel F. , Papp M. , Küffner A. M. , Benítez-Mateos A. , Jacquat R. P. B. , Gil-Garcia M. , Galvanetto N. , Faltova L. , Arosio P. 
Published: October 2024

AbstractBiomolecular condensates can affect enzymatic reactions by locally changing not only concentrations of molecules but also their environment. Since protein conformations can differ between the dense and dilute phase, phase separation can particularly modulate enzymes characterized by a conformation-dependent activity. Here, we generate enzymatic condensates based on a lipase fromBacillus thermocatenulatus, which exhibits an equilibrium between a closed, inactive state, and an open, active conformation. We show that the activity of the enzyme increases inside the dense phase, leading to an enhancement of the overall reaction rate in the phase-separated system. Moreover, we demonstrate that these condensates can generate a more basic environment compared to the surrounding solution. As a consequence, the phase-separated system maintains a high enzymatic activity even in acidic conditions that would be otherwise less favourable for the lipase. We further show that the formation of two phases with distinct pH values optimizes a cascade reaction involving two enzymes with different optimal pH conditions. Our results demonstrate that biomolecular condensates can also affect the dependence of enzymatic rates on solution pH, thereby expanding the accessible pH interval and enabling network reactions with enzymes that require distinct pH values. These findings have crucial implications in biology and biotechnology for biocatalytic engineering.
A robust synthetic biology toolkit to advance carboxysome study and redesign
Authors: Trettel Daniel S. , Hoang Y , Vecchiarelli Anthony G. , Gonzalez-Esquer Cesar R. 
Published: October 2024

AbstractCarboxysomes are polyhedral protein organelles that microorganisms use to facilitate carbon dioxide assimilation. They are composed of a modular protein shell which envelops an enzymatic core mainly comprised of physically coupled Rubisco and carbonic anhydrase. While the modular construction principles of carboxysomes make them attractive targets as customizable metabolic platforms, their size and complexity can be a hinderance. In this work, we design and validate a plasmid set – the pXpressome toolkit -in which α-carboxysomes are robustly expressed and remain intact and functional after purification. We tested this toolkit by introducing mutations which influence carboxysome structure and performance. We find that deletion of vertex-capping genes results in formation of larger carboxysomes while deletion of facet forming genes produces smaller particles, suggesting that adjusting the ratio of these proteins can rationally affect morphology. Through a series of fluorescently labeled constructs, we observe this toolkit leads to more uniform expression and better cell health than previously published carboxysome expression systems. Overall, the pXpressome toolkit facilitates the study and redesign of carboxysomes with robust performance and improved phenotype uniformity. The pXpressome toolkit will support efforts to remodel carboxysomes for enhanced carbon fixation or serve as a platform for other nanoencapsulation goals.