bluuebunny/crossref_metadata_2025_split huggingface dataset:
TAD‐dependent sub‐TAD is required for enhancer–promoter interaction enabling the β‐globin transcription
Authors: Lee Dasoul , Kang Jin , Kim AeRi 
Published: November 2024

AbstractTopologically associating domains (TADs) are chromatin domains in the eukaryotic genome. TADs often comprise several sub‐TADs. The boundaries of TADs and sub‐TADs are enriched in CTCF, an architectural protein. Deletion of CTCF‐binding motifs at one boundary disrupts the domains, often resulting in a transcriptional decrease in genes inside the domains. However, it is not clear how TAD and sub‐TAD affect each other in the domain formation. Unaffected gene transcription was observed in the β‐globin locus when one boundary of TAD or sub‐TAD was destroyed. Here, we disrupted β‐globin TAD and sub‐TAD by deleting CTCF motifs at both boundaries in MEL/ch11 cells. Disruption of TAD impaired sub‐TAD, but sub‐TAD disruption did not affect TAD. Both TAD and sub‐TAD disruption compromised the β‐globin transcription, accompanied by the loss of enhancer–promoter interactions. However, histone H3 occupancy and H3K27ac were largely maintained across the β‐globin locus. Genome‐wide analysis showed that putative enhancer–promoter interactions and gene transcription were decreased by the disruption of CTCF‐mediated topological domains in neural progenitor cells. Collectively, our results indicate that there is unequal relationship between TAD and sub‐TAD formation. TAD is likely not sufficient for gene transcription, and, therefore, sub‐TAD appears to be required. TAD‐dependently formed sub‐TADs are considered to provide chromatin environments for enhancer–promoter interactions enabling gene transcription.
Correlation between severity of knee joint osteoarthritis and alignment of patellofemoral and patellar height on radiographs
Authors: Yang Zhenlei , Shen Mingjie , Xie Deshun , Zhang Junzhe , Wei Qingjun 
Published: November 2024

Abstract

Background:
The correlation between the morphological structure of the patellofemoral joint (PFJ) and the severity of knee joint osteoarthritis (KOA) remains uncertain. This study aims to investigate the correlation between the severity of knee joint osteoarthritis and the alignment of patellofemoral and patellar height on radiographs.

Methods:
This multi-center, retrospective study analyzed the magnetic resonance imaging (MRI) scans and anteroposterior radiographs of 534 adult outpatients with KOA. To evaluate the radiographic severity of KOA, anteroposterior radiographs of the knee and the Kellgren-Lawrence (K-L) grade were used. Knee MRI scans were used to measure the patellar length ratio (PLR), sulcus angle (SA), lateral patellar tilt angle (LPTA), and the distance between tibial tuberosity and trochlear groove (TT-TG). We examined the association between the configuration of the PFJ, arrangement, and harshness of the KOA. Information on participants’ demographics, such as age, sex, side, height, and weight, was collected. A chi-squared test was used for the correlation of radiographic severity of KOA with sex and the affected side. Spearman correlation was used for patellofemoral alignment or morphology and the radiographic severity of lateral KOA. Multiple linear regression models were used for the association between LPTA, SA, TT-TG, and severity of KOA after accounting for demographic variables.

Results:
The study comprised of 534 patients; of these, 339 (63%) were female. A total of 586 knees were evaluated in this study. Age showed a strong positive correlation with KOA severity (r = 0.516, P <0.01), whereas LPTA showed a strong negative correlation (r = –0.662, P <0.01). Additionally, SA (r = 0.616, P <0.05), and TT-TG showed a strong positive correlation (r = 0.770, P <0.01) with tibiofemoral osteoarthritis (TFOA) severity. Multiple linear regression analysis indicated that knee osteoarthritis severity (β = –2.946, P <0.001) and side (β = –0.839, P = 0.001) was associated with LPTA; knee osteoarthritis severity (β = 5.032, P <0.001) and age (β = –0.095, P <0.001) was associated with SA; knee osteoarthritis severity (β = 2.445, P <0.001), sex (β = –0.326, P = 0.041), body mass index (β = –0.061, P = 0.017) and age (β = –0.025, P <0.001) was associated with TT-TG. The radiographic severity of KOA positively correlated with PLR, SA, and TT-TG, but negatively correlated with LPTA.

Conclusions:
Radiographic severity of KOA was positively associated with age, SA, and TT-TG but negatively associated with LPTA.
Implementation of laparoscopic colorectal surgery in a spoke hospital: Analysis of the results from a dedicated unit in a spoke center
Authors: Provenzano Daniele , Mercurio Paola , Cannistrà Marco , Mahli Sam , Vindigni Angelo , Rugiero Giovanni , Cariati Maria , Antonella Lucia , Capoano Angelo , Peta Giuseppina , Bernardi Simone , Sorrentino Tommaso , Castaldo Pasquale 
Published: November 2024

Introduction:
Despite its operative benefits and oncological noninferiority, video-laparoscopic colorectal surgery is still underutilized. This study analyses the results of a program for the implementation of video-laparoscopic colorectal surgery in a spoke hospital after the COVID-19 outbreak.

Methods:
Patients were enrolled between January 2022 and May 2024 in a single center. The procedures encompassed all sections of the colon and rectum. The same team performed all the surgical treatments. The same team performed all surgeries, which were elective.

Results:
Right hemicolectomy was the most common operation performed. Intestinal continuity was restored through extracorporeal anastomosis. The laparoscopic approach was used in 98 operations (76%), while 30 operations (24%) were performed using the open technique. The conversion rate was 18.75%.

Conclusions:
Currently, 83% of colorectal surgeries in Italy use a laparoscopic technique. Our study shows an increasing trend in the minimally invasive approach (76%), which is almost in line with the national average, despite the sample coming from a spoke hospital.
Factors Influencing Preoperative Psychological Resilience in Patients With Traumatic Lower Extremity Fractures
Authors: Jiang Yiwen , Ying Dinong , Xu Shuqin , Cao Wenting , Liu Liting , Zhou Qianqian 
Published: November 2024

BACKGROUND:
The psychological resilience of patients with traumatic lower extremity fractures is relevant and has been studied in the postoperative rehabilitation phase; yet, few studies have focused on the early preoperative phase.

OBJECTIVE:
This study aims to explore preoperative psychological resilience in patients with traumatic lower extremity fractures.

METHODS:
This single-center cross-sectional survey design study was conducted over 5 months from December 2022 to April 2023 in a tertiary hospital in Shanghai, China. We used a convenience sampling method to assess psychological resilience in traumatic lower extremity fracture patients electronically. We administered the online surveys using the Questionnaire Star applet prior to surgery using the following tools: (a) general information questionnaire, (b) Numerical Rating Scale, (c) Connor–Davidson Resilience Scale, and (d) General Self-Efficacy Scale.

RESULTS:
A total of N = 175 patients were studied, of which n = 166 patients fully completed the survey for a response rate of 95%. Patients with traumatic lower extremity fractures demonstrated a low degree of psychological resilience preoperatively (M = 49.28, SD = 13.64). Patients’ psychological resilience and self-efficacy showed a significant positive correlation (r = .577). Factors associated with patients’ psychological resilience in multivariate linear analyses included level of education, medical insurance, and self-efficacy (p < .05).

CONCLUSION:
We found that preoperative psychological resilience in patients with traumatic lower-extremity fractures is poor and influenced by various factors; thus, future efforts should focus on providing timely, targeted interventions.
Trauma Patient Transitional Work: A Multidisciplinary Feasibility Survey of Planned Behavior Elements
Authors: Saucier Jason A. , Dietrich Mary S. , Maxwell Cathy , Lane-Fall Meghan B. , Messing Jonathan A. , Minnick Ann 
Published: November 2024

Background:
Patient transitions in critical care require coordination across provider roles and rely on the quality of providers’ actions to ensure safety. Studying the behavior of providers who transition patients in critical care may guide future interventions that ultimately improve patient safety in this setting.

Objective:
To establish the feasibility of using the Theory of Planned Behavior in a trauma environment and to describe provider behavior elements during trauma patient transfers (de-escalations) to non-critical care units.

Methods:
This cross-sectional study surveyed a convenience sample of 103 multidisciplinary providers who do the cognitive and physical work of transitioning trauma patients from critical care to another non-critical care unit at a U.S. Level I trauma center. Descriptive methods for survey development, analysis, and administration were evaluated.

Results:
A total of 72 respondents completed the survey; they included registered nurses, nurse practitioners, and medical doctors, demonstrating a 70% response rate. Statistically significant differences among ICU roles were observed in perceived control (Eta-squared = 0.09, p = .001) and in several anchors in the attitude, subjective norms, and behavioral intent theoretical domains (Cohen’s d ranging from 0.36 to 2.03, p < .05).

Conclusions:
This study demonstrated variability in theory domains, signaling an opportunity to study a representative sample. It can serve as a blueprint for future behavioral studies designed to examine the Theory of Planned Behavior elements in trauma critical care providers.
Omaha System-Based Extended Nursing Care in Hypertensive Cerebral Hemorrhage: A Randomized Study
Authors: Xiao Yamei , Wang Xiaohui 
Published: November 2024

BACKGROUND:
Traditional nursing care often fails to meet the complex needs of hypertensive cerebral hemorrhage patients. Limited evidence exists on the efficacy of structured nursing frameworks such as the Omaha System in postoperative care for these patients.

OBJECTIVE:
This study aims to evaluate the efficacy of Omaha-based extended nursing care in improving patients’ outcomes.

METHODS:
This randomized controlled trial included 53 patients with hypertensive cerebral hemorrhage admitted to the neurosurgical department of a large tertiary hospital in Chengdu, China, from March to September 2023. Participants were randomly assigned to either the traditional nursing care (n = 26) or the Omaha-based nursing care in addition to the traditional nursing care (n = 27). Outcomes included self-health management abilities, anxiety and depression levels, quality-of-life, and functional independence. Data were collected before nursing care and 1- and 3-months post-nursing care.

RESULTS:
Omaha-based nursing care demonstrated improvements in self-health management abilities, with cognition scores increasing from a baseline of 31.65 (4.37) to 57.32 (5.11) at 3-months (mean difference: 25.67, 95%CI [23.45, 27.89], p = .01). Anxiety levels decreased in the Omaha-based nursing group, with SAS scores reducing from 45.71 (3.48) to 28.26 (2.74) at 3-months (mean difference: −17.45, 95% CI [−19.02, −15.88], p < .01). Quality-of-life scores improved in the Omaha-based nursing group, increasing from 6.3 (1.2) to 7.9 (0.9) at 3-months (mean difference: 1.6, 95% CI [1.12, 2.08], p = .03). Functional independence scores were also higher in the Omaha-based nursing group at 3-months (mean difference: 9.2, 95% CI [6.11, 12.29], p = .03).

CONCLUSION:
Our findings support the integration of the Omaha System into postoperative care protocols for this patient population. However, further validation is warranted by larger trials.
Prehospital Interventions to Reduce Discomfort From Spinal Immobilization in Adult Trauma Patients: A Scoping Review
Authors: Mota Mauro , Melo Filipe , Santos Eduardo , Abrantes Tito , Monteiro Mariana P. , Cunha Madalena , Santos Margarida R. 
Published: November 2024

Background:
Spinal immobilization, a widely used trauma prehospital intervention, is known to cause discomfort, yet little is known about interventions to reduce this discomfort.

Objective:
This scoping review aims to evaluate prehospital interventions to reduce discomfort from spinal immobilization in adult trauma patients.

Method:
This scoping review assessed prehospital pharmacological and nonpharmacological interventions to address discomfort from spinal immobilization in adult trauma patients. We searched sources published in English, French, Spanish, and Portuguese without time restrictions. Two reviewers independently screened sources against the inclusion criteria and extracted data using a specified extraction instrument. The databases MEDLINE, CINAHL, Scopus, Embase, APA PsycINFO, International Paramedic Practice, Amber: the Home of Ambulance Service Research, JBI Evidence Synthesis, Cochrane Database of Systematic Reviews, Cochrane Central Register of Controlled Trials, RCAAP, and CAPES Thesis Bank were used.

Results:
Two articles were deemed eligible, identifying two interventions. One focused on the choice of immobilization device, while the other addressed the hemodynamic implications of immobilization discomfort, considering factors such as oxygen saturation, blood pressure, and pulse.

Conclusions:
Only two interventions were found, and both only indirectly addressed spinal immobilization discomfort. More well-designed research is needed to address patient-centered concerns regarding the discomfort from spinal immobilization in trauma care.
Need for individualized counseling regarding psoriasis systemic therapy in women of childbearing age: analysis of the PsoFem study at the University Medical Center Hamburg
Authors: Stephan Brigitte , Sommer Rachel , Augustin Matthias , Ganjuur Nomun , da Silva Neuza 
Published: November 2024

Background:
For patients with moderate-to-severe psoriasis and current childbearing/pregnancy, the choice of therapy is limited.

Objectives:
The present study compared the disease burden and treatment choices in women of childbearing age (WoCBA) with and without a current wish for pregnancy.

Methods:
Female patients aged 18 to 45 years, with moderate-to-severe psoriasis vulgaris, were consecutively recruited. The patients reported on sociodemographic/reproductive characteristics and quality of life impairments. The physicians assessed disease severity, comorbidities, and current treatment(s). Both patients’ and dermatologists’ perceptions of shared decision-making for the current systemic treatment were surveyed.

Results:
Participants were 145 WoCBA with psoriasis: 73 were pregnant or reported a desire to conceive (group CB+) and 72 reported no wish to have (more) children (group CB−). Patients without childbearing wishes were older and often had previous children; no significant differences in clinical features or quality of life impairments were found. A significantly higher proportion of patients in the CB+ group were prescribed tumor necrosis factor alpha blockers, particularly certolizumab pegol. This treatment option was associated with previous children and the desire to conceive, but not with disease variables. Family planning was more often discussed and considered in the clinical decision for the CB+ group, but patient-doctor agreement for shared decision-making was fair-to-moderate.

Limitations:
The small sample size prevented comparative analyses between patients planning a pregnancy in the short- vs long-term future. In addition, specific variables related to the decision-making process for the current therapy need to be assessed and examined in more detail in further research.

Conclusion:
For WoCBA with childbearing wishes, tumor necrosis factor alpha blockers were most frequently prescribed, in accordance with current guidelines/recommendations. Decision-making for continuing or changing systemic therapy during pregnancy must take into account medication specificities and the vulnerable stages in pregnancy, as well as the limited amount of pregnancy-compatible drugs.
Germline DDX41 mutations in myeloid neoplasms: the current clinical and molecular understanding
Authors: Kida Junichiro , Chlon Timothy M. 
Published: November 2024

Purpose of review

DDX41 mutations are the most common cause of germline predisposition to adult-onset myeloid neoplasms. The unique mutational landscape and clinical features indicate a distinct molecular pathogenesis, but the precise mechanism by which DDX41 mutations cause disease is poorly understood, owing to the multitude of DDX41 functions. In this review, we will update DDX41's known functions, present unique clinical features and treatment considerations, and summarize the current understanding of the molecular pathogenesis of the disease.

Recent findings
Large cohort studies have revealed that germline DDX41 variants are heterozygous and predominantly loss-of-function. Acquired mutation of the contralateral DDX41 allele, typically R525H, is present in more than half of patients at disease onset, which occurs after age 50. DDX41 is essential for hematopoiesis and has versatile functions in RNA metabolism and innate immune sensing. Experimental models have suggested that innate immune activation downstream of defects in R-loop resolution and ribosome biogenesis plays a key role in the pathogenesis.

Summary
While intensive investigations unveiled a strong genotype–phenotype relationship, the optimal therapeutic approach and long-term outcome are undefined. There is an urgent need to scrutinize the patients at single cell and multiomics level and to advance experimental animal and human models to fully elucidate the molecular pathogenesis.
Sclerosing encapsulating peritonitis (Abdominal Cocoon) associated with Non-Hodgkin’s lymphoma of bowel wall: a rare case report
Authors: Khanal Kunjan , Pandey Asim , Dangol Raj B. , Sherpa Pasang L. , Jaiswal Roshan , Parajuli Samriddhi , Singh Pradeep , Shakya Sudip R. 
Published: November 2024

Introduction:
Sclerosing encapsulating peritonitis (SEP) is a rare condition causing intestinal obstruction. A thick fibrous membrane envelops abdominal organs. SEP is classified into two types: abdominal cocoon syndrome (ACS), also called idiopathic or primary SEP, and secondary SEP. Symptoms range from subacute to acute intestinal blockage, and diagnosis is usually confirmed during laparotomy.

Case presentation:
The authors present a case of a 32-year-old woman who presented with intermittent per-vaginal bleeding for 1 month, abdominal distension, decreased appetite, and significant weight loss over 5 months. Examination revealed pallor and a palpable 12×12 cm mass in the right lower abdomen. Imaging revealed a lobulated mass in the mid-ileum with bowel wall thickening. She underwent laparotomy, revealing fibrous tissue, and a nodular mass on the distal ileum. Histopathology confirmed non-Hodgkin’s lymphoma.

Discussion:
Sclerosing encapsulating peritonitis is a rare chronic inflammatory condition affecting the peritoneum. Primary SEP, also known as abdominal cocoon or idiopathic SEP, lacks a definitive cause, while secondary SEP results from conditions like peritoneal dialysis, liver cirrhosis, and malignancies. It involves peritoneal irritation leading to inflammation, fibrin-like material release, and subsequent bowel encasement and fibrosis. Diagnosis is typically made during laparotomy, though contrast-enhanced CT scan aids in presumptive diagnosis.

Conclusion:
This case report highlights a rare occurrence of abdominal cocoon syndrome in a patient with non-Hodgkin B-cell lymphoma, presenting with abdominal pain, distension, and bowel obstruction. Diagnosing this condition early is crucial, especially in patients with underlying malignancies. More research is needed to improve management.
Sortilin C-terminal fragment deposition depicts tangle-related nonamyloid neuritic plaque growth in Alzheimer’s disease
Authors: Zhang Qi-Lei , Wang Yan , Coulibaly Sidiki , Sun Zhong-Ping , Cai Xiao-Lu , Tu Tian , Liu Yu , Pan Aihua , Cui Meng-Chao , Manavis Jim , Wang Jian , Zhang Yang , Wang Xiao-Pin , Yan Xiao-Xin 
Published: November 2024

AbstractSortilin C-terminal fragments (sorfra) can co-deposit in β-amyloid (Aβ) plaques in human brain. However, sorfra plaques develop in the cerebrum with a spatiotemporal trajectory as of tauopathy. Here we examined sorfra pathogenesis relative to neuritic plaque evolution in the human brains with amyloid and tau pathologies converged in the neocortex and hippocampus. Sorfra plaques occurred in correlation with pTau/tangle, but not Aβ, pathologies across cerebral regions, neighboring cortical/hippocampal areas, and along the sulcal valley to gyral hilltop transition. Sorfra plaques and neuritic plaques were matchable in location, shape and size between consecutive sections, and were colocalized in double-labeling preparations. Microscopical study and tissue clearance three-dimensional imaging revealed sorfra/Aβ colocalized as well as independent plaques. Among the former, sorfra labeling correlated negatively to Aβ/amyloid labeling and β-secretase-1 labeling in dystrophic neurites. Sorfra plaques were depleted of microtubule-associated protein 2 (MAP2) labeled neuronal somata and dendrites, whereas normal looking MAP2/sortilin co-labeled profiles occurred nearby. Sorfra deposits were seen in astrocytes but not microglia around the plaques. Taken together, sorfra plaques are anatomically matchable to silver stained neuritic plaques. They develop with tangle-related somatodendritic degeneration, presenting as nonamyloid growth of the Aβ plaques and formation of Aβ-independent neuritic plaques during Alzheimer’s disease pathogenesis.
The impact of FreeSurfer versions on structural neuroimaging analyses of Parkinson’s disease
Authors: Sokołowski Andrzej , Bhagwat Nikhil , Kirbizakis Dimitrios , Chatelain Yohan , Dugré Mathieu , Poline Jean-Baptiste , Sharp Madeleine , Glatard Tristan 
Published: November 2024

AbstractImage processing software impacts the quantification of brain measures, playing an important role in the search for clinical biomarkers. We investigated the impact of the variability between FreeSurfer releases on the estimation of structural brain measures in Parkinson’s disease (PD). Structural brain scans from 106 controls and 209 patients were analyzed with FreeSurfer versions 5.3, 6.0.1, and 7.3.2, including longitudinal data from 125 patients. First, we measured the differences in the estimation of volume, surface area, and cortical thickness between FreeSurfer versions. Second, we focused on the relationship between MRI-derived brain measures and group differences as well as disease severity clinical outcomes, which were evaluated both cross-sectionally and longitudinally. We found high software-induced variability in the estimation of all three structural measures, which impacted clinical outcomes. There were differences between software versions in group differences between patients and healthy controls in subcortical volume and vertex-wise cortical thickness. Software variability also impacted the estimated relationship between brain structure and disease severity in patients. Hence, software variability not only relates to the estimation of structural measures, but it also impacts clinically- relevant MRI measures. Our study provides insight into the reproducibility of structural neuroimaging studies in PD populations.