bluuebunny/crossref_metadata_2025_split huggingface dataset:
A Novel MYH14 Variant Presenting as a New Phenotype of MYH14-Associated Neuromuscular Disorders—Clinicohistologic Findings and Review of the Literature
Authors: Mensch Alexander , Jordan Berit , Weis Joachim , Nikolin Stefan , Schneider Ilka , Abicht Angela , Gehling Stefanie , Kendzierski Thomas , Stoltenburg-Didinger Gisela , Stoevesandt Dietrich , Kraya Torsten , Zierz Stephan , Naegel Steffen 
Published: November 2024

Abstract

Background:
Pathogenic variants in the nonmuscle myosin, MYH14, have been associated with several pathologic conditions including a complex phenotype with peripheral neuropathy, myopathy, hoarseness, and hearing loss. Since its first description in a large Korean kindred, this rare neuromuscular disorder has further been characterized in 1 American and 1 Canadian pedigree.

Case presentation:
Here, we describe a German patient with atypical MYH14-related neuromuscular disorder. The clinical phenotype included signs of a distal myopathy with early respiratory involvement and a prominent hoarseness and peripheral neuropathy. In contrast to previous reports, no relevant deafness was identified. Muscle biopsy indicated a vacuolated myopathy with excessive autophagy, whereas histology of the sural nerve showed signs of a mixed axonal-demyelinating neuropathy. Next-generation sequencing revealed a loss-of-function variant not identified so far in the MYH14 gene (c.4510del, p.[Arg1504Glyfs*10]). Because of rapid disease progression with respiratory failure, the patient died at the age of 52.

Conclusions:
We present a novel MYH14 variant resulting in a severe and rapidly progressive MYH14-associated phenotype with predominantly distal myopathy, early respiratory failure, dysphagia, hoarseness, and peripheral neuropathy, without hearing loss. This case expands the clinical spectrum of MYH14-related neuromuscular disorders by providing a new clinical phenotype and disease course and histopathologic features.
Autoantibody-Based Clinicoradiopathologic Phenotyping of Idiopathic Inflammatory Myopathies: An Indian Cohort
Authors: Santhappan Girija Manu , Vengalil Seena , Kulanthaivelu Karthik , Menon Deepak , Nashi Saraswati , Sreerangappa Sridhar , Tiwari Ravindu , Samim MM , Baskar Dipti , Nandeesh Beevinahalli , Rao Shilpa , Mahadevan Anita , Nalini Atchayaram 
Published: November 2024

Abstract

Objectives:
We aim to characterize the clinical, pathological, laboratory and imaging features of various antibody defined IIM subgroups in Indian population.

Methodology:
103 patients who satisfied 2017 ACR/ EULAR Classification criteria for IIM, and tested seropositive for myositis antibodies using Immunoblot technique were retrospectively identified. Patients were classified into following subgroups – Mi2B group, SRP group, Anti RNA Synthetase antibody group (Jo 1, PL 7, PL 12, OJ), multiple MSA, only MAA group (U1RNP, Ro 52, SS-A, SS-B, PM Scl 75, PM Scl 100). Clinical, laboratory, histopathology and imaging parameters were compared among different groups.

Results:
Ro52 (n = 31; 22.46%) was the most common autoantibody seen in our cohort followed by Mi2B (n = 26; 18.84%) and SRP (n = 20; 14.49%). Skin manifestations (p = 0.053) and joint involvement (p = 0.023) were seen more frequently among Mi2B and MAA sub groups. Three out of 4 patients with persisting antibody positivity on serial measurements developed clinical relapse between 2 and 3 years after the initial episode. Remaining 2 patients showed declining titres of antibodies and developed no clinical relapses during follow up period of 5 and 6 years. Among histopathology features, perifascicular atrophy was found to be more prevalent among Mi2B (55.6%) and MAA subgroups (31.3%) (p value = 0.037). In thigh muscle MRI, Mi2B group showed a pattern of diffuse involvement of affected muscles without regional preference, with sparing of hamstring group. SRP group showed characteristic pattern of edema involving peripheral regions of Quadriceps femoris and central regions of Adductor group along with severe atrophy involving hamstring and adductor compartment muscles. ILD was seen in 27.5% of patients who underwent CT Chest. 3 patients were found to have underlying malignancy at the time of diagnosis of myositis (Mi2B = 2 and PM Scl = 1).

Conclusion:
Classification of IIM patients based on myositis antibodies yields subgroups with certain differences in clinical, laboratory, histopathological and imaging features.
PRAME Immunostaining in BAP-1-Inactivated Melanocytic Tumors: Unraveling Diagnostic Complexity and Exploring Germline Mutation Associations
Authors: Machuca-Aguado Jesús , López-Prieto Ana , Mora-Díaz Rodrigo , Gutiérrez-Domingo Álvaro , Garrido-Ruiz María , Rodríguez-Peralto José Luis , Ríos-Martín Juan José 
Published: November 2024

Background:
Cutaneous melanocytic tumors with BAP-1 inactivation (BIMTs), linked to mutations in the BAP-1 gene, present diagnostic challenges due to their morphological similarities with other melanocytic lesions. The search for reliable diagnostic markers, including PRAME, holds potential to significantly improve the accuracy of differential diagnoses.

Methods:
A retrospective analysis of 32 BIMTs from 25 patients, collected between 2018 and 2022, involved histologic examination and immunostaining for BAP-1 and PRAME.

Results:
Positive PRAME expression, defined as diffuse staining in at least 75% of nevic cells, was observed in 19% of cases. Variations in PRAME expression patterns were noted, particularly in biphasic lesions and those associated with germline BAP-1 mutations.

Conclusions:
The diagnostic complexities of BIMTs necessitate a comprehensive diagnostic strategy. While BAP-1 immunostaining remains pivotal, this study explored PRAME as a potential adjunctive diagnostic tool. PRAME antibody shows highly variable expression in BIMTs, limiting its utility as a supportive tool for the differential diagnosis with melanomas, especially in patients with biphasic lesions and germline mutations in BAP-1.
Conceptual Contextualization of Neutrophilic Dermatoses
Authors: Fernandez-Flores Angel 
Published: November 2024

Abstract:
Neutrophilic dermatoses are defined as inflammatory skin diseases characterized by sterile infiltration of polymorphonuclear neutrophils into various cutaneous layers. Although, in many cases, neutrophilic dermatoses represent the cutaneous counterpart of autoinflammatory diseases, this is not always the case, and there are other causes associated with this group of diseases, such as the administration of certain drugs or an underlying tumor. However, understanding the autoinflammatory context in which most of these entities develop, as well as their close relationship with autoimmunity, is key to comprehending their pathogenesis. In addition, understanding the mechanisms by which neutrophils migrate to the dermis and become activated is fundamental for interpreting the morphological findings of these biopsies. Finally, the description of a new group of neutrophilic dermatoses in recent years, in relation to keratinization disorders, has been crucial for understanding the best therapeutic approach for these difficult-to-manage entities.
The Initial Exploration of Polidocanol Sclerotherapy for the Treatment of Axillary Osmidrosis: A Retrospective Study
Authors: Yao Sunyuan , Cai Yantao , Zhu Chenfang 
Published: November 2024

BACKGROUND
Axillary osmidrosis (AO) is a strong, unpleasant odor that originates from the apocrine axillary glands. Treatments of AO include surgical treatment and nonsurgical treatment. The surgical procedure yields effective results with a low recurrence rate but requires a longer recovery time and has more postoperative complications. Nonsurgical treatments are minimally invasive and safe, but short-term recurrence may occur in some cases.

OBJECTIVE
Polidocanol sclerotherapy was first described for management of AO. This retrospective study explored the clinical efficacy in relieving symptom of AO assessed by AO severity using the axillary osmidrosis grading system and safety of polidocanol sclerotherapy in treating AO.

PATIENTS AND METHODS
This retrospective study included 25 patients with AO single-site study, with 12 patients receiving polidocanol (1%) sclerotherapy (the polidocanol group) and 13 receiving botulinum toxin A (BTX-A) injection (the BTX-A group). The short-term efficacy (7 days after injection), the long-term efficacy (6 months after injection), the recurrence rate, and complications were compared between the 2 groups. A p-value of <0.05 was considered statistically significant.

RESULTS
The short-term efficacies of polidocanol sclerotherapy and BTX-A injection were 100% and 69.2%, which was not clinically significant (p > .05), whereas their long-term efficacies were 100% and 46.2%, respectively (p < .05). The recurrence rates in the polidocanol and BTX-A groups were 25.0% and 84.6%, respectively (p < .05). The complications did not differ significantly between the 2 groups (p > .05). Although the short-term efficacy and complications were comparable between the 2 groups, the long-term efficacy of polidocanol sclerotherapy was superior to BTX-A injection. The polidocanol group has a lower recurrence rate than the BTX-A group.

CONCLUSION
Polidocanol sclerotherapy may provide an effective and safe treatment with longer efficacy compared to toxin, which is an effective and safe option for AO treatment.
Multicenter, randomized controlled trial of EUS-guided fine-needle biopsy using a fork-tip needle with macroscopic or rapid on-site evaluation for pancreatic lesions (H2O trial)
Authors: Ogura Takeshi , Hijioka Susumu , Hara Kazuo , Nishioka Nobu , Okuda Atsushi , Ueno Saori , Nishikawa Hiroki , Yamada Masanori , Nagashio Yoshikuni , Hisada Yuya , Murashima Yumi , Takeshita Kotaro , Haba Shin , Kuwahara Takamichi , Okuno Nozomi 
Published: November 2024

ABSTRACT

Background and Objectives
According to previous reports, EUS–fine-needle biopsy (FNB) with or without rapid on-site evaluation (ROSE) showed the nonsuperiority of EUS-FNB + ROSE over EUS-FNB. However, previous studies included various kinds of FNB needle. This might be a critical limitation due to heterogeneity. Therefore, the aim of the present multicenter, randomized controlled trial was to compare the diagnostic accuracy of the fork-tip needle with or without ROSE for pancreatic lesions.

Methods
In the ROSE group, if an adequate sample was obtained to diagnose by on-site evaluation, EUS-FNB was stopped. If cytological results were insufficient or indeterminate, EUS-FNB was repeated. In the macroscopic on-site evaluation (MOSE) group, if a 4-mm length of visible core tissue was obtained, EUS-FNB was finished. If visible core tissue was not obtained or was less than 4 mm in length, a second puncture was attempted.

Results
One hundred seventy-one patients were randomized, 85 to the ROSE group and 86 to the MOSE group. In the MOSE group, diagnostic sensitivity and accuracy were 94.4% and 91.8%, respectively, for visible core tissue and 80.6% and 70.0%, respectively, for red tissue. Finally, overall diagnostic sensitivity and accuracy were 97.1% and 95.3%, respectively, in the ROSE group and 95.8% and 95.3%, respectively, in the MOSE group. Although there were no significant differences regarding adverse events between groups, the mean number of punctures was significantly lower in the MOSE group than in the ROSE group (1.47 vs. 1.20, P = 0.0171).

Conclusions
EUS-FNB using a fork-tip needle for pancreatic lesions has high diagnostic yield even without ROSE.
Pectoralis Major and Abdominis Rectus Musculocutaneous Flap Reconstruction for Sternal Wound Closure in Ectopia Cordis
Authors: Bautista Catherine H. , Chen Joanna , Ormiston Laurel , Moore Zachary J. , Husain Adil , Gociman Barbu 
Published: November 2024

Summary:
Ectopia cordis is a rare congenital condition resulting in extrathoracic positioning of the heart. The severity of presentation may vary with partial or complete displacement through sternal or diaphragmatic defects. Operative management is typically required, but due to the rarity of the condition, no standard exists for optimal closure. Reconstruction techniques can include compound local flap placement including pectoralis major, rectus abdominis, or latissimus dorsi flaps as well as synthetic material placement, autologous bone, and cartilage grafts to correct sternal deformity. This case report outlines the successful utilization of bilateral composite pectoralis major and rectus abdominal musculocutaneous flaps for complex staged closure of a sternal wound after creation of a cavopulmonary anastomosis in a 5-year-old patient with concomitant single-ventricle congenital heart disease. This single-staged closure after cardiac repair was performed without intra- or postoperative complications, and the patient demonstrated satisfactory healing with stable cardiac coverage at follow-up visit. This technique may present as an effective approach in complex sternal wound closure in patients with ectopia cordis.
Predictors of the efficacy of CO2 laser therapy for female stress urinary incontinence
Authors: Hsiao Sheng-Mou , Wu Wen-Yih , Lin Ho-Hsiung 
Published: November 2024

Background:
Predictors of the efficacy of a single session of CO2 laser therapy for female stress urinary incontinence are important for pretreatment consultation. Therefore, this study aimed to evaluate these predictors.

Methods:
All consecutive women who underwent vaginal CO2 laser therapy for stress urinary incontinence were prospectively enrolled in the obstetrics and gynecology department of a medical center from October 2018 to December 2021. Women with a global response assessment (GRA) ≤0 during follow-up were considered to have subjective failure. A multivariable backward stepwise Cox proportional hazard model was used to identify factors influencing subjective failure.

Results:
A total of 75 women who underwent single-session vaginal CO2 laser therapy were evaluated. The median duration of subjective improvement (defined as ≥1 on the GRA) was 18.3 (95% CI, 12.1-18.3 months) months. Multivariable analysis revealed that low voided volume (dL, hazard ratio [HR] = 0.707; area under the curve [AUC] = 0.66, cutoff value of voided volume ≤4.0 dL), high postvoid residual volume (dL, HR = 2.714; AUC = 0.60, cutoff value of postvoid residual volume ≥1.0 dL), and low functional profile length (HR = 0.956; AUC = 0.58, cutoff value of functional profile length ≤2.8 cm) were predictors of subjective failure. Logit(p) was found to predict failure (HR = 1.775; AUC = 0.71, cutoff value of logit(p) ≥0.0). Pad weights decreased at 3- and 6-month follow-up visits (e.g., pad weights: 46.9 ± 62.8 g at baseline, 13.1 ± 29.5 g at 3 months, and 21.0 ± 38.2 g at 6 months, p = 0.006). At 6 months, 8 (21%) women were cured (<1 g pad weight), and 16 (42%) women showed improvement (>50% decrease in pad weight). Overactive bladder symptom improved at 3 and 6 months (ie, Overactive Bladder Symptom Score: 3.2 ± 2.7 at baseline, 2.1 ± 2.2 at 3 months, and 2.0 ± 1.2 at 6 months, p < 0.001). However, no significant change in female sexual function was observed from baseline.

Conclusion:
Low voided volume and high postvoid residual volume are significant predictors of subjective failure following a single session of transvaginal CO2 laser therapy. However, the subjective therapeutic effects appear to diminish over a median duration of 18 months.
Analysis of prognosis and medical resource utilization in elderly patients with trauma: A retrospective cohort study in one trauma center
Authors: Kang Lung-Yun , Hua Hu Yu 
Published: November 2024

Background:
Trauma is consistently among the top ten causes of death worldwide. The aging population, constituting 15.21% of adults aged over 65 in Taiwan as of November 2019, has significantly impacted healthcare expenditures. This study aimed to explore the prognosis and resource utilization in patients with geriatric trauma.

Methods:
This retrospective analysis included ER admissions between January 2015 and December 2017 at a Level I trauma center in southern Taiwan. Of the 5,185 eligible patients, 1,743 were elderly. Comparisons between the age groups assessed medical resource use, patient characteristics, trauma profiles, and management. Outcomes examined included mortality, complications, length of hospital stay, duration of ICU stay, and costs.

Results:
Elderly patients, predominantly women, exhibit more blunt injuries often resulting from accidental falls. They experienced longer hospital stays and higher medical expenses, as well as increased complication and mortality rates. Mortality predictors included age, GCS score, trauma severity score (≥16), complications, surgery, and initial hypotension. Complications correlated with prolonged length of hospital stay (LOS), early blood transfusion, and mortality, impacting overall expenditure along with trauma severity, ICU days, surgery, and AIS score (≥3).

Conclusion:
Elderly patients had a longer LOS, higher mortality and complication rates, and higher total medical costs. The required medical expenses for elderly trauma cases were relatively higher than those for younger individuals. Relevant authorities should consider patient age when formulating policies for trauma reimbursement. Based on our findings, healthcare resource utilization can be reduced by decreasing the length of hospital stay and mitigating trauma severity. We recommend collecting more detailed data, extending the study period, and engaging in multicenter collaborations to validate our findings and provide a roadmap for further research. We suggested that interventional studies are needed to test strategies aimed at reducing resource utilization and improving outcomes in elderly trauma patients, which would be valuable.
Anatomic versus nonanatomic resection for intrahepatic cholangiocarcinoma: a systematic review and meta-analysis
Authors: Jiang Chuang , Hou Gui-Min , Zhang Zhi-Hong , Qiang Ze-Yuan , Wang Hai-Chuan , Zhou Jin , Zeng Yong 
Published: November 2024

Background:
The value of anatomic resection (AR) in intrahepatic cholangiocarcinoma (ICC) remains controversial. This study compares the perioperative safety and long-term outcomes of AR versus nonanatomic resection (NAR) in ICC patients.

Methods:
A systematic search was conducted in PubMed, Medline, Embase, Cochrane Library, China National Knowledge Infrastructure(CNKI), and Wanfang database for prospective or retrospective studies comparing the efficacy of AR and NAR in, ICC published to 1 June 2024. Meta-analyses were performed on surgical factors, perioperative outcomes, and long-term prognosis for both the entire cohort and the propensity score-matched (PSM) cohort. The primary outcome measures were overall survival (OS) and disease-free survival (DFS).

Results:
Seven studies, including 1801 ICC patients, were analyzed. In both the entire and the PSM cohort, the AR group demonstrated superior OS (HR=0.71, 95% CI=0.57–0.88, P=0.002 and HR=0.70, 95% CI=0.59–0.83, P<0.0001, respectively) and DFS (HR=0.75, 95% CI=0.62–0.91, P=0.004 and HR=0.68, 95% CI=0.58–0.79, P<0.00001, respectively) compared to the NAR group. AR significantly improves 1-year, 3-year, 5-year DFS, and 5-year OS(all P<0.05). In the PSM cohort, AR and NAR groups showed comparable blood loss, operative times, overall complications, and major complications (all P>0.05). Subgroup analysis revealed that among patients with tumor >5 cm, AR achieved better OS and DFS, whereas patients with tumors ≤5 cm did not experience survival benefits from AR.

Conclusion:
This study suggests that AR, compared to NAR, can improve OS and DFS without increasing perioperative risks, particularly in ICC patients with tumors larger than 5 cm.
Apixaban removal during emergency surgery for type A acute aortic dissection: a prospective cohort study
Authors: Røed-Undlien Henriette , Schultz Nina H. , Husebråten Inger M. , Wollmann Birgit M. , Akerkar Rupali R. , Molden Espen , Amundsen Erik K. , Bjørnstad Johannes L. 
Published: November 2024

Background:
Acute type A aortic dissection (ATAAD) has a high mortality, and acute aortic repair is the only curative treatment. In patients treated with factor Xa (FXa) inhibitors, the risk of severe disease-related complications such as cardiac tamponade and hemodynamic shock must be balanced against the potential for severe perioperative bleeding. The aim was to study intraoperative changes in plasma levels of the FXa inhibitor apixaban when using hemoadsorption during acute thoracic aortic repair.

Materials and methods:
This is a single-center prospective cohort study. Eight apixaban-treated patients presenting with ATAAD underwent acute thoracic aortic repair with intraoperative hemoadsorption with CytoSorb. Apixaban concentrations were measured at the start of cardiopulmonary bypass (CPB) and after 5, 15, 30, 60, and 90 min of CPB, at CPB weaning, 30 min after CPB weaning and 24 h postoperatively, using ultraperformance liquid chromatography–mass spectrometry (UPLC-MS).

Results:
After 30 min of CPB with hemoadsorption, mean apixaban concentration (±SD) was reduced by 59% from 108 (±69) µg/l to 44 (±20) µg/l (P=0.009). There was a further reduction to 37 (±17) µg/l at CPB weaning (P=0.008). Apixaban concentration displayed an increase to 56 (±29) µg/l 24 h postoperatively (P=0.01). In-hospital mortality was 25%. The mean 24H chest tube drainage volume was 621 (±136) ml.

Conclusion:
Intraoperative hemoadsorption lowers apixaban levels in patients undergoing emergency surgery for ATAAD. Further research is needed to determine its impact on perioperative bleeding complications and mortality.
Risk of High-Grade Cervical Dysplasia in Older Patients With a Positive Human Papilloma Virus Cervical Screening Test
Authors: Preston Marta , Richards Anthony 
Published: November 2024

Introduction
The Australian National Cervical Screening Program has mandated management algorithms that are uniform across all age groups, but evidence is emerging that perhaps the risk of high-grade squamous intraepithelial lesion (HSIL) may decrease in the postmenopausal period.

Objective
The aim of the study is to identify if patients ≥50 years of age referred to a tertiary colposcopy service have a different risk of HSIL or greater (+).

Materials and Methods
This is a retrospective cohort study of 3239 referrals to a hospital colposcopy clinic with a positive human papillomavirus (HPV) cervical screening test between December 2017 and May 2023. Patients were included if they were aged 25–74 years, had a cervix, and completed an outpatient colposcopic assessment. Medical records were analyzed to determine the incidence of HSIL+ for each age group and compared them using χ2 and multivariable regression.

Results
The overall incidence of invasive carcinoma was 0.93% and HSIL/adenocarcinoma-in-situ was 20.38%. Patients ≥50 years of age were less likely to have HSIL or greater diagnosed than those <30 (p < .0001) or those 30–49 (p < .0001), even after considering referral HPV subtype and reflex cytology (OR = 0.45, 95% CI = 0.34–0.59). The risk of invasive carcinoma in those aged ≥50 was no different than those aged 30–49 (p = .982).

Conclusions
We observed a lower incidence of HSIL or greater with increasing age even after considering referral HPV subtype and reflex cytology. As further data emerges regarding the risk of high-grade disease in those ≥50 years of age, refinement of the risk-based screening algorithm to account for advanced age may be required.