bluuebunny/crossref_metadata_2025_split huggingface dataset:
Adenomatous Polyposis Coli Gene Mutations, Risk Factors, and Long-term Outcomes Associated With Desmoid Tumors in Patients With Familial Adenomatous Polyposis After Colectomy in Japan
Authors: Kojima Tadahiro , Kurachi Kiyotaka , Iwaizumi Moriya , Tatsuta Kyota , Sugiyama Kosuke , Akai Toshiya , Sakata Mayu , Morita Yoshifumi , Kikuchi Hirotoshi , Hiramatsu Yoshihiro , Takeuchi Hiroya 
Published: October 2024

Goals:
To clarify the characteristics of desmoid tumors in Japanese patients with familial adenomatous polyposis after colectomy.

Background:
Few comprehensive reports have been published on desmoid tumors in Asian patients with familial adenomatous polyposis.

Study:
This retrospective study included the data of 81 patients with familial adenomatous polyposis who underwent surgery between 1978 and 2021. The adenomatous polyposis coli gene mutation sites, risk factors, and long-term outcomes associated with desmoid tumors in Japanese patients with familial adenomatous polyposis after colectomy were analyzed.

Results:
No association was observed between the gene mutation sites and desmoid tumor development in 40 patients who underwent genetic analyses. The rate of desmoid tumor development was 30.3% in 66 patients. Multivariate analysis revealed that age below 32 years at colectomy (hazard ratio = 5.491, 95% confidence interval 1.820-16.50, P < 0.001) and familial adenomatous polyposis-related malignancies other than colorectal cancer (hazard ratio = 5.574, 95% confidence interval 2.075-14.98, P < 0.001) were independent risk factors for desmoid tumor development following colectomy. The 10-year disease-specific survival and overall survival rates for desmoid tumors were 92.9% and 76.9%, respectively. The median surveillance duration was 90 months.

Conclusions:
Adenomatous polyposis coli gene mutation sites alone were not considered a factor for delaying or avoiding colectomy to prevent desmoid tumors in Japanese patients with familial adenomatous polyposis. The timing of colectomy and careful surveillance should be considered for managing patients at a high risk of developing desmoid tumors. Desmoid tumors in patients with familial adenomatous polyposis did not significantly impact prognosis, and pharmacological treatments are important for disease control.
Comparison of predictors of survival among fulminant myocarditis patients undergoing veno-arterial extracorporeal membrane oxygenation in the adult and pediatric populations
Authors: Dean Yomna E. , Doma Mohamed , Afzal Ahson , Elawady Sameh Samir , Elmezayen Rafeek W. , Bamousa Bdoor Ahmed A. , Iqbal Naila , Megiso Muluken Zeleke , Kodurum Sriharsha , Ramadan Adham , El Bahaie Mahmoud , Magdi Ahmed , Afzal Fatima , Badr Helmy , Katamesh Basant , Ismail Dina , Etman Yasser , Hazimeh Yusef , Darling Edward , Aiash Hani 
Published: October 2024

Background:
Fulminant myocarditis (FM) is a potentially life-threatening disease that requires emergency care. The authors’ study aims to explore clinical outcomes and predictors of survival when using veno-arterial extracorporeal membrane oxygenation (VA-ECMO) support for the treatment of FM in adult and pediatric patients to analyze differences between both populations.

Methods:
PubMed, Scopus, Web of Science, and Cochrane databases were searched for studies reporting the effect of VA-ECMO on patients diagnosed with fulminant myocarditis. Statistical analysis was performed using R version 4.2.2.

Results:
Forty-three studies were included in our analysis with a total of 1268 patients. Survival rates were 65% and 71% among adult and pediatric patients, respectively. Patients who didn’t suffer from cardiac arrest prior to VA-ECMO had better chances of survival in both populations; adults (OR 0.44; P<0.01) and pediatric (OR = 0.32; P= 0.006). Younger age was associated with higher survival among the adults (MD= −8.81; P<0.01). Additionally, pre-ECMO LVEF was higher among survivors in the pediatric group (MD= 8.23; P<0.01). Furthermore, no significant association was detected between sex, VA-ECMO duration, systolic blood pressure, lactate levels, and survival rates among both groups.

Conclusion:
Using VA-ECMO in patients with fulminant myocarditis can significantly improve survival outcomes, with improved prognosis observed with younger age among adults and absence of prior history of cardiac arrest in both groups.
Anterior communicating artery aneurysm with concomitant A2 segment triplication and anterior communicating artery fenestration, A rare case series on microsurgical treatment
Authors: Hosseini Ehsan Mohammad , Aghamiri Seyed Hossein , Haridas Abilash , Natarajan Sabareesh , Peyvandi Maryam , Sourani Arman 
Published: October 2024

Introduction and importance:
There are few cases of multiple simultaneous anterior communicating artery (AComA) aneurysms with A2 triplication and AComA duplication.

Cases presentation:
(1) A fenestrated AComA with a saccular aneurysm (neck diameter 9 mm; dome height 8 mm) projecting superiorly from the distal AComA branch, as well as an anomalous artery arising from the posterior surface of the same AComA. (2) A duplicate AComA with a saccular aneurysm (neck diameter of 5 mm; dome height of 9 mm) projecting superioposteriorly from the distal AComA branch, as well as an anomalous artery arising from the anterior surface of the same AComA was diagnosed. Both were treated by microsurgical titanium clip occlusion.

Clinical discussion:
Anatomical variations are believed to enhance the risk of anterior communicating artery (AComA) aneurysms, accounting for ~30% of all intracranial aneurysms. In such circumstances, the goal is to occlude the aneurysmal lesions safely while preserving the patency of other branches.

Conclusion:
AComA aneurysms accompanied by anomalous triplicated A2 and fenestrated AComA are rare and challenging. Such complex cases response best using microsurgery using titanium clip occlusion with durable favorable outcomes.
Clinical diagnosis and management of spinocerebellar ataxia in a resource-constrained setting: a case report from Eastern Nepal
Authors: Adhikari Nabin , Pokhrel Popular , KC Priyanka , Kumar Sah Navin , Shah Bhupendra 
Published: October 2024

Introduction:
Spinocerebellar ataxias (SCA) are a diverse group of neurodegenerative disorders with autosomal dominant inheritance, primarily affecting the cerebellum and its connections. Diagnosis typically involves genetic testing, but in resource-limited settings, clinical and neuroimaging assessments become critical. This case report highlights the role of nongenetic methods in diagnosing SCA and outlines management strategies in such settings.

Case Presentation:
A 41-year-old male presented with a 2-year history of progressive gait imbalance, headache, and abnormal speech. He had a family history of similar symptoms in two siblings, but no significant past medical history. Clinical examination revealed scanning speech, dysmetria, and a broad-based gait. Clinical and neuroimaging findings, including cerebellar atrophy, led to a diagnosis of SCA in the absence of genetic testing. Patient management with speech, occupational, and physical therapies, showed gradual improvement.

Discussion:
SCA, characterized by cerebellar atrophy and a range of clinical symptoms, is typically diagnosed through genetic testing, but clinical and imaging assessments are crucial when genetic resources are limited. This case illustrates that a comprehensive clinical evaluation, including neuroimaging, can support the diagnosis of SCA even without genetic testing. Strategic management emphasizing symptomatic relief and functional improvement through a multidisciplinary approach, including regular follow-up and personalized therapy, are crucial, as evidenced by the timely improvement observed in our case.

Conclusion:
In resource-limited settings, a comprehensive clinical and neuroimaging assessment is essential for diagnosing spinocerebellar ataxia when genetic testing is not feasible. Effective management through multidisciplinary therapies can improve patient outcomes, underscoring the need for innovative strategies to enhance diagnostic and treatment capabilities in such environments.
Hoyeraal–Hreidarsson syndrome: a case report of dyskeratosis congenita with a novel PARN gene mutation
Authors: Çalişkan Kamiş Şule , Çil Metin , Yağci-Küpeli Begül 
Published: October 2024

Introduction and importance:
Dyskeratosis congenita (DC) is a rare multisystem disorder primarily characterized by bone marrow failure due to telomere shortening. Typical clinical features include oral leukoplakia, skin hyperpigmentation, and nail dystrophy, along with an increased risk of malignancies. Hoyeraal–Hreidarsson syndrome (HH), a severe variant of DC, is associated with profound neurological and immunological complications, emphasizing the importance of early diagnosis and genetic evaluation to guide appropriate management.

Case presentation:
The authors present a case of a 2-year-old girl diagnosed with Hoyeraal–Hreidarsson syndrome, linked to a newly discovered mutation in the poly (A)-specific ribonuclease (PARN) gene. The patient exhibited intrauterine growth retardation (IUGR), congenital cytomegalovirus (CMV) infection, immunodeficiency, microcephaly, and cerebellar hypoplasia. Whole-exome sequencing (WES) identified a novel mutation in the PARN gene.

Clinical discussion:
Hoyeraal–Hreidarsson syndrome, a severe form of DC, manifests with multisystem involvement and is genetically heterogeneous. Early genetic testing through techniques such as WES can aid in diagnosing rare syndromes like HH and guide treatment strategies, including bone marrow transplantation.

Conclusion:
This case underscores the importance of genetic evaluation in complex, rare syndromes like HH. Whole-exome sequencing plays a crucial role in identifying pathogenic mutations and tailoring management. The patient’s prognosis is being closely monitored following bone marrow transplantation.
Burnout among Nurses, Midwives, and Physicians in Maternity Care Exposed to Traumatic Childbirth Events
Authors: Robinson Keisha A. , Atlas Robert O. , Storr Carla L. , Gaitens Joanna M. , Blanchard May , Ogbolu Yolanda 
Published: October 2024

Abstract

Purpose:
To describe the relationship between experiencing traumatic childbirth events and burnout.

Study Designs and Methods:
This descriptive cross-sectional study used an anonymous online survey to assess traumatic childbirth event exposure and the three independent constructs of burnout: emotional exhaustion, depersonalization, and personal accomplishment. Participants were a convenience sample of registered nurses, obstetric residents, family medicine residents, and attending obstetricians across five hospitals from December 2020 through June 2021. The traumatic childbirth event questionnaire measured the frequency of traumatic childbirth event exposure, perception of severity, and perceived influence on the participant's professional practice and personal life.

Results:
Data were analyzed from 150 participants. Registered nurses represented the largest percentage of participants (66%). Components of burnout varied according to race and occupation. Asian/Pacific Islanders had significantly higher mean depersonalization scores at 10.1 (SD = 6.0). Resident physicians had the highest emotional exhaustion scores (M = 34.6, SD = 8.8). Traumatic childbirth events perceived influence on practice correlates with personal accomplishments. Yet, no relationship was observed between traumatic childbirth events, emotional exhaustion, and depersonalization. Linear mixed analysis revealed that hospitals account for 7.5% of the variance in emotional exhaustion scores, 11.1% in depersonalization scores, and 1.3% in personal accomplishments scores.

Clinical Implications:
Maternity clinicians experience burnout at similar rates to those in other specialties. Although traumatic childbirth events are infrequent and not strongly correlated with emotional exhaustion and depersonalization, hospitals should implement effective strategies to support clinicians after such events. Educational interventions can enhance knowledge and resilience, whereas specialized training effectively alleviates burnout. Development of evidence-based strategies that prioritize the wellbeing of clinicians and patients is crucial.
Labor Nurses' Experiences During the COVID-19 Pandemic
Authors: Eanes Linda , Mathew Liji , Philips Betty , Paul Dalia , Mathews Moncy 
Published: October 2024

Abstract

Purpose:
The purpose of this study was to describe labor and delivery nurses' experiences in caring for patients during the COVID-19 pandemic.

Methods:
We used a descriptive phenomenological design and purposeful sampling to recruit experienced labor and delivery nurses for flexible semi-structured face-to-face audiotaped interviews. Constant comparison was used to analyze data.

Results:
Ten nurses employed in a labor and delivery unit in two acute care hospitals in southern Texas participated and were interviewed from June through August 2022. The mean age of nurse participants was 36.5 years. Seven had over 5 years' experience as a labor and delivery nurse before the pandemic. Five distinct themes were identified: Psychological stress during COVID-19; Feelings of satisfaction and gratitude; Resilience and readiness for positive change; Patient-centered care; and Interprofessional collaboration.

Clinical Implications:
These findings build on our understanding of key determinants contributing to labor and delivery nurses' ability to adjust to the unprecedented and chaotic working conditions during the COVID-19 pandemic and highlighted several factors that could influence nurses' resilience and job satisfaction.
A Systematic Review of Worldwide Female Enrollment in Randomized Controlled Trials of Post-Stroke Lower Extremity Rehabilitation
Authors: Safaei-Qomi Mohammad R. , Mehrabi Sarvenaz , Fleet Jamie L , Peters Sue , Viana Ricardo , Payne Michael W. , Tang Ada , Teasell Robert 
Published: October 2024

Abstract
This review systematically examined the reporting of sex and female participation in post-stroke lower extremity (LE) motor rehabilitation randomized controlled trials (RCTs) over time and identified differences in female participation across RCTs conducted in low-and-middle-income countries (LMICs), high-income-countries (HICs), and HIC-regions. Systematic searches were conducted of MEDLINE, Embase, CINAHL and PsycINFO from 1970 to May 2022. RCTs in English were included if they examined post-stroke LE motor rehabilitation interventions in adults diagnosed with stroke. A total of 1,285 RCTs were analyzed; 4.5% of RCTs did not report sex, and the overall female participation was 39.4%. The percentage of female participants did not significantly differ between HICs and LMICs. Within HICs, the percentage of female participants was significantly higher in European RCTs than RCTs in Asia & Oceania (P = 0.008). No significant changes in female participation were found for any of the countries or regions over the last two decades. Female participation was significantly higher in RCTs conducted in the acute phase compared to those in the chronic phase (p < 0.001). More research is needed to understand the reasons behind female under-enrollment and further efforts are required to ensure adequate enrollment of males and females.
Cytokine trajectory over time in men and women with HIV on long-term ART
Authors: Vanpouille Christophe , Wells Alan , DeGruttola Victor , Lynch Miranda , Zhang Xinlian , Fitzgerald Wendy , Tu Xin , Chaillon Antoine , Landay Alan , Weber Kathleen , Scully Eileen , Karn Jonathan , Gianella Sara 
Published: October 2024

Objective:
Although antiretroviral therapy (ART) suppresses viral replication and reduces inflammation, it does not lead to the normalization of cytokines. The long-term effects of ART beyond viral suppression have not been studied and are mostly limited to cross-sectional research.

Design:
The impact of long-term ART on the trajectory of 40 cytokines/chemokines in 31 men and 59 women who maintained viral suppression over a median period of 6 years (317 visits ranging 24 to 384 weeks post ART initiation) were measured by Luminex.

Methods:
We used a generalized additive model with a Gaussian distribution and identity link function to model concentrations over time and investigate sex and race differences.

Results:
While most cytokine/chemokine trajectories remained stable, the trajectory of 9 markers of monocyte/macrophage activation (IP-10, I-TAC, MIG, sCD163, sCD14, MCP-1, MIP-3β, CXCL13, TNF-α) decreased over time (adj. p < 0.05). Despite continuous viral suppression, M-CSF, IL-15, and LBP increased over time (adj. p < 0.05). sCD14 was the only cytokine whose trajectory differed by sex (adj. p = 0.033). Overall, women had lower mean levels of IL-18 but higher levels of sCD14 than did men (adj. p < 0.05). GROα, LBP and sCD14 showed significant differences between races (adj. p < 0.05). No association between cytokines and cellular HIV DNA/RNA was found.

Conclusions:
Our study reveals a continuous decline in markers of monocyte/macrophage activation over six years of suppressive ART, indicating that long-term treatment may mitigate inflammaging and cardiovascular-related outcomes. The higher levels of sCD14 observed in women are consistent with them having greater innate immune activation than men do.
Evaluation of the Effect of Pre-bent Z-shaped Titanium Plate on Narrowing of Zygomatic Arch in L-shaped Reduction Malarplasty
Authors: Shu Kai-yi , Li Xi-yuan , Zhao Jiu-li , Zhang Zhi-yong 
Published: October 2024

Objective:
Pre-bent titanium plates are widely used for internal fixation in L-shaped zygomatic reduction. The aim is to evaluate the effect of pre-bent Z-shaped titanium plate on the narrowing of the zygomatic arch in L-shaped reduction malarplasty.

Methods:
Thirty cosmetic female patients were selected and scanned using computed tomography (CT). The CT images of pre-operation (T1) and post-operation(T2) were re-established through MIMICS26.0 (Materialise). After the 2 images were registered based on the skull base, the narrowing distance (ZRN) at the posterior end of the free zygomatic arch, as well as the preoperative and postoperative cross-sectional dimensions of the zygomatic arch, were measured. The ZRN and the altitude of the pre-bent titanium plate (TA) were compared using an independent t test, and their correlation was also analyzed using the Pearson coefficient. The preoperative and postoperative longest diameter (L1) and shortest diameter (L2) of the posterior zygomatic arch were compared using a paired t test.

Results:
The TA was 3.80±0.82 mm and the ZRN was 3.21±0.82 mm. The difference value was 0.59±0.41 mm, which was statistically significant. TA showed a strong correlation with ZRN (r=0.916, P=0.002). The L1 and L2 of the zygomatic arch root were slightly reduced postoperatively.

Conclusion:
The pre-bent Z-shaped titanium plate does not completely correspond to the zygomatic arch narrowing distance in the actual application of L-shaped reduction malarplasty. However, it can control the narrowing distance of the zygomatic arch predictably, and achieve satisfactory surgical outcomes.
Morphologic Characterization of Pancreatic Ductal Adenocarcinoma following Post-neoadjuvant Pancreatectomy and Clinical value of Intratumor Heterogeneity
Authors: Lionetto Gabriella , Mattiolo Paola , Ciulla Calogero , Savegnago Giulia , Casciani Fabio , De Pastena Matteo , Paiella Salvatore , Pea Antonio , Esposito Alessandro , Crovetto Anna , Donadelli Massimo , Franzina Carlotta , Fassan Matteo , Scarpa Aldo , Salvia Roberto , Malleo Giuseppe , Luchini Claudio 
Published: October 2024

Objective:
To evaluate the morphologic landscape of pancreatic ductal adenocarcinoma (PDAC), intratumor spatial heterogeneity, and the resulting clinical impact following post-neoadjuvant pancreatectomy.

Summary Background Data:
The clinical value of PDAC morphologic subtypes and intratumor spatial heterogeneity post-treatment remains an open issue.

Materials and Methods:
The study cohort included patients who underwent post-neoadjuvant pancreatectomy for PDAC at the University of Verona Hospital Trust between 2013 and 2019. All hematoxylin and eosin-stained slides were reviewed to assess PDAC histomorphology and intratumor heterogeneity. The relationship with other clinicopathological variables, overall survival (OS), and recurrence-free (RFS) survival was evaluated using standard statistics.

Results:
The study cohort included 400 patients. Histological revision identified ten different morphologic subtypes. Gland-forming PDAC with a conventional pattern was the most frequently identified subtype (41.8%). Overall, 247 tumors (61.7%) showed only one histological pattern and were classified as homogeneous, whereas 153 (38.3%) showed different morphologies and were classified as heterogeneous tumors. The median post-resection survival was 30.1 months (95%CI 26.6-33.5). There was a substantial survival variability according to the morphologic subtype, ranging from 19.1 months in the gyriform subtype to 47.0 months in the papillary subtype. Tumors with a heterogeneous morphology displayed a higher rate of nodal metastases, worse tumor regression metrics, and worse oncologic outcomes relative to spatially homogeneous tumors.

Discussion:
This paper provided a morphological taxonomy of residual tumors following post-neoadjuvant pancreatectomy for PDAC. The morphologic subtype and intratumor spatial heterogeneity have relevant prognostic implications and could be included in the pathology report to complement regression metrics.
Outcomes among Patients with End-Stage Kidney Disease and Chronic Limb-Threatening Ischemia
Authors: Shah Samir K. , Neal Dan , Vasilopoulos Terrie , Segal Mark , Berceli Scott , Weissman Joel S. 
Published: October 2024

Objective:
To understand mortality and secondary outcomes in patients with both end-stage kidney disease (ESKD) and chronic limb-threatening ischemia (CLTI) after no procedural treatment, primary amputation, endovascular treatment, and open surgery.

Summary Background Data:
ESKD and CLTI commonly cooccur and limited prior work has demonstrated poor outcomes including one-year survival despite treatment.

Methods:
We conducted a retrospective national cohort study of United States Renal Data System data from January 1, 2016 to December 31, 2019 to determine mortality, major postoperative complications, and other outcomes. We performed an exploratory analysis comparing two-year survival by treatment using propensity matching.

Results:
Of 1,876,652 records with a CLTI diagnosis, we identified 3,908 patients with ESKD and an incident CLTI diagnosis. Mean age at CLTI diagnosis was 65.7 years and 2,405 (61.5%) were male. 2,696 (69.0%) had no procedural treatment, 609 (15.6%) had major limb amputation, 439 (11.2%) had endovascular treatment, and 164 (4.2%) had open surgery. There was 44.9% mortality at one year, along with 41.8% major postoperative complications and 52.6% readmissions at 90 days. Comparing two-year survival, we found no differences between the amputation and endovascular cohorts (P=0.08) and between endovascular and open (P=.06). There was superior two-year survival in the open surgery cohort compared to the amputation cohort (P=0.002)

Conclusions:
Patients living with both ESKD and CLTI experience poor outcomes irrespective of treatment. Exploratory analyses demonstrated that two-year survival among the three principal procedural treatments was similar except for superior survival among patients undergoing open therapy compared to primary amputation.