bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic Variants in WNT16 and PKD2L1 Locus Affect Heel Ultrasound Bone Stiffness: Analyses from the General Population and Patients Evaluated for Osteoporosis
Authors: Kragl Angelique , Hannemann Anke , Nauck Matthias , Völker Uwe , Siggelkow Heide , Teumer Alexander , Tzvetkov Mladen V. 
Published: October 2023

AbstractOsteoporosis, a complex chronic disease with increasing prevalence, is characterised by reduced bone mineral density (BMD) and increased fracture risk. The high heritability of BMD suggests substantial impact of the individual genetic disposition on bone phenotypes and the development of osteoporosis. In the past years, genome-wide association studies (GWAS) identified hundreds of genetic variants associated with BMD or osteoporosis. Here, we analysed 1103 single nucleotide polymorphisms (SNPs), previously identified as associated with estimated BMD (eBMD) in the UK Biobank. We assessed whether these SNPs are related to heel stiffness index obtained by quantitative ultrasound in 5665 adult participants of the Study of Health in Pomerania (SHIP). We confirmed 45 significant associations after correction for multiple testing. Next, we analysed six selected SNPs in 631 patients evaluated for osteoporosis [rs2707518 (CPED1/WNT16), rs3779381 (WNT16), rs115242848 (LOC101927709/EN1), rs10239787 (JAZF1), rs603424 (PKD2L1) and rs6968704 (JAZF1)]. Differences in minor allele frequencies (MAF) of rs2707518 and rs3779381 between SHIP participants (higher MAF) and patients evaluated for osteoporosis (lower MAF) indicated a protective effect of the minor allele on bone integrity. In contrast, differences in MAF of rs603424 indicated a harmful effect. Co-localisation analyses indicated that the rs603424 effect may be mediated viastearoyl-CoA desaturase(SCD) expression, an enzyme highly expressed in adipose tissue with a crucial role in lipogenesis. Taken together, our results support the role of the WNT16 pathway in the regulation of bone properties and indicate a novel causal role ofSCDexpression in adipose tissue on bone integrity.
Comparative analysis of robot-assisted and open approach for PSMA-radioguided surgery in recurrent prostate cancer
Authors: Ambrosini Francesca , Falkenbach Fabian , Budäus Lars , Steuber Thomas , Graefen Markus , Koehler Daniel , Knipper Sophie , Maurer Tobias 
Published: October 2023

Abstract
Purpose
To compare the oncological and surgical outcomes of patients with recurrent prostate cancer (PCa) who underwent either open or newly established robot-assisted salvage prostate-specific membrane antigen–radioguided surgery (PSMA-RGS).

Materials and methods
Patients who consecutively underwent PSMA-RGS for PCa recurrence between January 2021 and December 2022 were identified. The rate of complete biochemical response, biochemical recurrence-free survival [BFS], and the rate of salvage therapy were evaluated. Univariable and multivariable regression models tested the association between the surgical approach and surgical outcomes.

Results
Overall, 85 patients were selected, with 61 patients (72%) undergoing open PSMA-RGS and 24 patients (28%) receiving a robot-assisted approach. The oncological outcomes of the two groups were comparable (12-month BFS: 41% (Confidence interval (CI): 29–58%) vs. 39% (CI: 19–79%), p = 0.9, respectively). According to multivariable regression models, the robotic approach did not significantly influence estimated blood loss (EBL) (β = −40, 95% CI: −103, 22; p = 0.2) and significantly increased operative time (OT) (β = 28, 95% CI: 10, 46; p = 0.002). No Clavien-Dindo III–V complications were reported in the robotic group.

Conclusion
Both, the open as well as the robot-assisted approach for PSMA-RGS had comparable oncological outcomes. No safety concerns arose for the robotic-assisted approach offering a potentially improved quality of life for patients.
Current Endovascular Management of Arterial Complications After Pediatric Liver Transplantation in a Tertiary Center
Authors: Marra Paolo , Muglia Riccardo , Capodaglio Carlo Alberto , Dulcetta Ludovico , Carbone Francesco Saverio , Sansotta Naire , Pinelli Domenico , Celestino Antonio , Muscogiuri Giuseppe , Bonanomi Ezio , Fagiuoli Stefano , D’Antiga Lorenzo , Colledan Michele , Sironi Sandro 
Published: October 2023

Abstract
Purpose
Pediatric liver transplant surgery is burdened by arterial complications whose endovascular treatment is not standardized. We report the outcomes of a cohort of pediatric recipients with hepatic artery complications treated by endoluminal procedures.

Materials and Methods
From December 2019 to December 2022, consecutive transplanted pediatric patients who underwent endovascular treatment of hepatic artery complications were reviewed. The analysis included: type of complication (occlusion, stenosis, pseudoaneurysm); onset (acute =  < 15 days, subacute = 15–90 days, late =  > 90 days); endovascular technique (angioplasty, stenting); complications and outcomes. Technical success was defined as the opacification of the hepatic artery at the final angiogram with < 50% residual stenosis and no pseudoaneurysms. Clinical success was defined by graft’s and patient’s survival.

Results
Seventeen patients (8 males; median age 33 months, IQR 9–103) underwent 21 hepatic arteriography procedures for predominantly acute or subacute occlusions (n = 7) or stenosis (n = 11) with concurrent pseudoaneurysms (n = 4). Primary and secondary technical success was achieved in 13/18 and 3/3 procedures, respectively, with overall technical success of 76%. Angioplasty alone was successful in 5/21 procedures; stent-retriever thrombectomy was performed in one occlusion with thrombosis; stenting was required in 9/17 (53%) patients. Clinical success was obtained in 14/17 (82%) patients with hepatic artery patency after a median of 367 days (IQR 114.5–500). Clinical failure occurred in 3 permanent occlusions, with 2 deaths and 1 re-transplantation. Procedure-related complications included minor events in 3/17 (18%) patients and 1/17 (6%) death.

Conclusion
In liver transplanted children with hepatic artery complications, endovascular treatment may provide clinical success, with stenting often required in acute and subacute conditions.

Level of Evidence
Level 4.

Graphical Abstract
450-nm blue diode laser: a novel medical apparatus for upper tract urothelial lesions
Authors: Jiang Dali , Liu Guoxiong , Yang Bing , Niu Haoming , Fan Hengtong , Ren Zejun , Mu Liyue , Xu Xiaofeng , Qiao Ximin , Wu Kaijie , He Dalin 
Published: October 2023

Abstract
Objective
To explore the feasibility, safety and effectiveness of the 450-nm blue diode laser (BL), novel blue laser in the treatment of upper tract urothelial carcinomas (UTUCs) and other lesions in a porcine model.

Material and methods
For in vitro experiment, the ureter tissue was vaporised and coagulated with BL, green-light laser (GL) and Ho:YAG laser (Ho). The efficiency, width and depth of vaporisation, and depth of coagulation were recorded and compared. For in vivo experiments, four swines weighing 70 kg were used. In the acute group, different modes of operations were performed to evaluate the thermal damage, perforation and bleeding. In the chronic group, the overall appearance of the ureter and laser wound healing were observed by the naked eyes and H&E staining 3 weeks after surgery.

Results
In in vitro study, the BL showed a higher efficiency of tissue vaporisation and less tissue coagulation for fresh ureter compared to GL and Ho. In the in vivo study, the power of BL set at 7 W was better, and the thickness of thermal damage varied with different surgery types in the range of 74–306 μm. After 3 weeks, the wound healed well static in vaporisation (SV), moving vaporisation (MV) and H&E staining indicated mucosal healing rather than scar healing.

Conclusion
5–10W blue diode laser achieved a higher efficiency of tissue vaporisation and less tissue coagulation in a porcine model, indicating its potential application in the endoscopic surgery of UTUC as an optional device with high performance and safety.
Hysteroscopic diode laser myolysis: from a case series to literature review of incisionless myolysis techniques for managing heavy menstrual bleeding in premenopausal women
Authors: Vitale Salvatore Giovanni , Saponara Stefania , Sicilia Gilda , Klarić Marko , Sorrentino Felice , D’Alterio Maurizio Nicola , Nappi Luigi , Angioni Stefano 
Published: October 2023

Abstract
Purpose
This case series examined the safety and effectiveness of hysteroscopic myolysis using laser-induced interstitial thermo-therapy (LITT) for treating heavy menstrual bleeding (HMB) in premenopausal women with FIGO type 1 or 2 uterine fibroids, not planning for future fertility. Additionally, a comprehensive review of innovative, minimally invasive, incisionless myolysis techniques was conducted.

Methods
Women with HMB, sonographically diagnosed with a single FIGO type 1 or 2 fibroid, underwent hysteroscopic myolysis using the Leonardo® diode laser. Effectiveness was assessed via transvaginal ultrasound measurement of myoma size, volume and vascularization pre and post-procedure. Moreover, we also evaluated any improvements in symptoms using the Pictorial Blood Loss Assessment Chart (PBAC score) scores.

Results
The procedure resulted in significant HMB reductions and noticeable fibroid size, volume, and vascularization decrease in all three patients, with no reported complications. The literature review revealed both advantages and limitations of the minimally invasive, incisionless myolysis techniques.

Conclusions
Hysteroscopic laser myolysis is a safe and effective therapeutic intervention for patients experiencing HMB, diagnosed with FIGO type 1 or 2 fibroids, and not planning for future fertility. The procedure resulted in significant reductions in menstrual blood loss and fibroid size. Despite the promising results, it is essential to note the limitations of this report, including its case series design, a small number of patients, and a short follow-up period. Further research is necessary to confirm these results.
VEGF-A-induced changes in distal outflow tract structure and function
Authors: Oltmann Jannis , Morell Mark , Dakroub Mohamad , Verma-Fuehring Raoul , Hillenkamp Jost , Loewen Nils 
Published: October 2023

Abstract
Purpose
To investigate changes in distal outflow tract vessels caused by VEGF-A and their impact on outflow.

Methods
We compared VEGF-A perfused porcine anterior segments with and without trabecular meshwork (TM) to control eyes. In the first experiment (n=48), we analyzed live changes of the outflow tract with spectral-domain optical coherence tomography (SD-OCT) over 3 h and reconstructed them in 3D. In a second experiment (n=32), we measured the intraocular pressure (IOP) variation in response to VEGF-A over 48 h and computed the outflow facility.

Results
VEGF-A increased the vessel volume of the distal outflow tract by 16.8±10.6% while control eyes remained unchanged (0.5±6.8%). Volume changes occurred within the first 100 min before plateauing at 140 min. VEGF-A enhanced the outflow facility in eyes without TM by 38.6±25.5% at 24 h as compared to controls (p<0.05).

Conclusion
VEGF-A dilated vessels of the distal outflow tract and increased the outflow facility even after TM removal, pointing to a regulatory mechanism independent of proximal structures.
Bone health in children with Angelman syndrome at the ENCORE Expertise Center
Authors: Bindels-de Heus Karen G. C. B. , Hagenaar Doesjka A. , Mous Sabine E. , Dekker Ilonka , van der Kaay Daniëlle C. M. , Kerkhof Gerthe F. , Elgersma Ype , Moll Henriette A. , de Wit Marie-Claire Y. 
Published: October 2023

AbstractAngelman syndrome (AS) is a rare genetic disorder due to lack of UBE3A function on chromosome 15q11.2q13 caused by a deletion, uniparental paternal disomy (UPD), imprinting center disorder (ICD), or pathological variant of the UBE3A gene. AS is characterized by developmental delay, epilepsy, and lack of speech. Although fractures are observed frequently in our clinical practice, there are few studies on bone health in AS. The aim of this study is to investigate bone health in children with AS. In this prospective cohort study, we describe bone health in 91 children with AS visiting the ENCORE Expertise Center for AS between April 2010 and December 2021. Bone health was assessed with the bone health index (BHI) in standard deviation score (SDS) measured by digital radiogrammetry of the left hand using BoneXpert software. Risk factors analyzed were age, sex, genetic subtype, epilepsy, anti-seizure medication use, mobility, body mass index (BMI), and onset of puberty. Children with AS had a mean BHI of −1.77 SDS (SD 1.4). A significantly lower BHI was found in children with a deletion (−2.24 SDS) versus non-deletion (−1.02 SDS). Other factors associated with reduced BHI-SDS were inability to walk and late onset of puberty. Children with a history of one or more fractures (22%) had a significantly lower BHI than children without fractures (−2.60 vs −1.56 SDS). Longitudinal analysis showed a significant decrease in BHI-SDS with age in all genetic subtypes. Conclusions: Children with AS have a reduced bone health. Risk factors are deletion genotype, no independent walking, and late onset of puberty. Bone health decreased significantly with age.

What is Known:• Children with neurological disorders often have a low bone health and higher risk of fractures.• Little is known about bone health in children with Angelman syndrome (AS).

What is New:• Children with AS showed a reduced bone health and this was significantly associated with having a deletion, not being able to walk independently, and late onset of puberty.• Longitudinal analysis showed a significant decrease in bone health as children got older.
Endoscopic management of esophageal mucosal bridges in children with esophageal atresia
Authors: Antoine Matthieu , Krishnan Usha , Manfredi Michael , Cervinskiene Julija , Viala Jérôme , Brendel Julia , Tzivinikos Christos , Vanrenterghem Audrey , Dimitrov Georges , Hauser Bruno , Laverdure Noémie , Rohmer Barbara , Behal Hélène , Nicolas Audrey , Gottrand Frédéric 
Published: October 2023

Abstract
Background and study aims
Esophageal mucosal bridge (EMB) may be diagnosed at the anastomotic site in children operated on for esophageal atresia (EA) but so far only a few cases (n = 4) have been reported. This study aimed to characterize EMB in children with EA, risk factors, and treatment.

Patients and methods
This retrospective multicenter study recorded patient’s characteristics, EMB diagnosis circumstances, endoscopic management, follow-up, and EMB recurrence in children with EA aged less than 18 years, compared with paired EA patients without EMB.

Results
Thirty patients were included (60% male, 90% EA/tracheoesophageal fistula, 43% associated malformations). Compared to 44 paired controls, EMB was associated with a history of nasogastric tube feeding (31% vs. 9.1%, p = 0.02) and severe gastroesophageal reflux disease (history of fundoplication: 41.4% vs. 13.6%, p < 0.01). 77% had symptoms (food impaction and/or dysphagia). Endoscopic management was performed in 53% of patients (83% electrocoagulation) with no technical difficulties or complications. 80% of the symptomatic patients with EMB improved after endoscopic treatment, independently of anastomotic stricture dilatation or not.

Conclusion
EMB endoscopic management by electrocoagulation is safe and often leads to symptom improvement.
A prospective, real-world, multinational study of febrile neutropenia (FN) occurrence in oncology patients receiving chemotherapy with intermediate risk of FN: a MASCC Neutropenia, Infection, and Myelosuppression Study Group initiative
Authors: Leon Rapoport Bernardo , Garcia-Morillo Marcial , Font Carme , Samoon Zarka , Jabbar Adnan Abdul , Kourie Hampig Raphael , Kayumba Aline , Esposito Francis , Popescu Razvan Andrei , García-Gómez Jesus , Heyman Liezl , Smit Teresa , Krendyukov Andriy , Mathieson Nicola , Cooksley Tim , Anderson Ronald , Klastersky Jean 
Published: October 2023

Abstract
Purpose
Limited knowledge is available on the incidence of febrile neutropenia (FN) in intermediate-risk patients and the rationale for use of granulocyte colony-stimulating factor (G-CSF) in these patients. We aimed to estimate the rate at which patients associated with intermediate risk (10–20%) of FN would develop ≥ 1 episode of FN with a commonly used chemotherapy regimen in clinical practice.

Methods
This prospective, real-world, observational, multinational, multicenter study (December 2016–October 2019) recruited patients with solid tumors or Hodgkin’s/non-Hodgkin’s lymphoma. Patients receiving chemotherapy with intermediate risk of FN, but not G-CSF as primary prophylaxis were included and observed for the duration of the chemotherapy (≤ 6 cycles and ≤ 30 days after the last chemotherapy administration).

Results
In total, 364 patients (median age, 56 years) with 1601 cycles of chemotherapy were included in the analysis. The incidence of FN was 5% in cycle 1, 3% in cycles 2–3, and 1% in cycles 4–6. The rate of patients with ≥ 1 episode of FN was 9%, and 59% of FN events were reported during cycle 1. The rate of grade 4 neutropenia in cycle 1 was 11%, and 15% of patients experienced ≥ 1 episode of grade 4 neutropenia.

Conclusions
Overall, the incidence of FN was low, with a high incidence in cycle 1 and a decrease in the subsequent cycles. These results provide the real FN risk for common chemotherapy regimens in patients generally excluded from clinical trials. Prophylactic G-CSF in intermediate-risk patients could be considered as per clinician’s judgement.
Botulinum toxin and conservative treatment strategies in people with cervical dystonia: an online survey
Authors: Boyce Melani J. , McCambridge A. B. , Bradnam L. V. , Canning C. G. , De Oliveira C. Quel , Verhagen A. P. 
Published: October 2023

AbstractIsolated cervical dystonia is a focal, idiopathic dystonia affecting the neck muscles. Treatment usually consists of botulinum neurotoxin (BoNT) injections into the dystonic muscles. Our aim is to investigate the use of BoNT treatment and conservative treatments by people living with cervical dystonia. An online survey in English was conducted between June and August 2022. Participants were eligible to participate if they were living with cervical dystonia, were over 18 years old and could read and understand English. The survey consisted of demographic questions, characteristics of dystonia, questions relating to BoNT use and the perceived utility of conservative treatments. The data were analysed descriptively, and open-ended questions were grouped into similar topics represented by direct quotes. We received 128 responses from people with cervical dystonia, with an average age of 59 years and 77% women. Most participants (52%) described their cervical dystonia as mild to moderate with an average pain score of 5/10. Eighty-two (64%) participants were having regular BoNT injections, with overall positive perceived effects. Common activities reported to improve the symptoms were the use of heat packs, massage, relaxation, physiotherapy and participation in general exercise. Common coping strategies reported were getting sufficient rest, having the support of friends and family, and remaining engaged in enjoyable hobbies. We found that most participants received regular BoNT injections and that heat packs, exercise, massage, physiotherapy and relaxation were mostly perceived as effective in reducing the symptoms of cervical dystonia.
Formation of climate coalitions and preferential free trade: the case for participation linkage
Authors: Kuhn Thomas , Pestow Radomir , Zenker Anja 
Published: October 2023

AbstractWe study the endogenous formation of climate coalitions linked to a preferential free trade arrangement. In a multi-stage, micro founded strategic trade and participation game, coalition and fringe countries dispose of a discriminatory tariff on dirty imports as well as emission permits imposed on domestic producers. Permits are traded on a common permit market inside the coalition and on local markets outside, respectively. We provide an analytical solution for the general equilibrium and the policy game, in the three country case, while the participation game is solved by Monte Carlo simulation. Moreover, conditional probabilities are computed for the transition to coalitions of various sizes induced by free trade. Under various regimes analyzed, we find that preferential free trade can create strong incentives for building effective climate coalitions in terms of depth and breadth. This result even holds if fringe countries are given the option of trade cooperation as a retaliation devise and is driven by a favorable shift in the coalition’s terms of trade. As a policy implication, negotiations on international climate treaties and free trade arrangements should be interlinked.
A fast staffing algorithm for multistage call centers with impatient customers and time-dependent overflow
Authors: Manitz Michael , Piehl Marc-Philip 
Published: October 2023

AbstractEnsuring customer satisfaction is one of the main objectives of a call center. We focus on the question of how many agents are necessary and how they should be allocated to maintain a service level threshold and reduce the expected waiting time of the customers. In this paper, we consider a multistage call center that consists of a front and a back office, impatient customers, and an overflow mechanism. Based on the performance evaluation of such a system using a continuous-time Markov chain, a configuration of agents is determined using a binary search algorithm. We focus on structural insights, e.g., convexity conditions, to obtain a quick solution for the staffing problem. Since monotonicity does not always hold, the approach is heuristic. The numerical results show the performance of the algorithm. The influence of the fraction requiring second-level service in the back office and the impatience rate for the minimum number of agents is shown.
Automatic captions on video calls: a must for the older adults
Authors: Nacimiento-García Eduardo , González-González Carina S. , Gutiérrez-Vela Francisco L. 
Published: October 2023

AbstractIn recent years, the use of video call or video conference tools has not stopped increasing, and especially due to the COVID-19 pandemic, the use of video calls increased in the educational and work spheres, but also in the family sphere, due to the risks of contagion in face-to-face meetings. Throughout the world, many older people are affected by hearing loss. Auditory functional diversity can make it difficult to enjoy video calls. Using automatic captions might help these people, but not all video calling tools offer this functionality, and some offer it in some languages. We developed an automatic conversation captioning tool using Automatic Speech Recognition and Speech to Text, using the free software tool Coqui STT. This automatic captioning tool is independent of the video call platform used and allows older adults or anyone with auditory functional diversity to enjoy video calls in a simple way. A transparent user interface was designed for our tool that overlays the video call window, and the tool allows us to easily change the text size, color, and background settings. It is also important to remember that many older people have visual functional diversity, so they could have problems reading the texts, thus it is important that each person can adapt the text to their needs. An analysis has been carried out that includes older people to analyze the benefits of the interface, as well as some configuration preferences, and a proposal to improve the way the text is displayed on the screen. Spanish and English were tested during the investigation, but the tool allows us to easily install dozens of new languages based on models trained for Coqui STT.