bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of Rare EIF3E::RSPO2 Fusion in Recurrent and Aggressive Urachal Adenocarcinoma
Authors: Jha Prerana , Pengal Ruma , Shah Minit , Kulkarni Pooja Mahesh , Mishra Rohit , Menon Nandini , Vikkath Narendranath , Menon Santosh , Ramachandran Venkataramanan , Prakash Gagan , Noronha Vanita , Prabhash Kumar , Kumar Prashant 
Published: June 2024

ABSTRACTIntroductionUrachal cancer (UC) is a rare genitourinary malignancy arising from the urachus, an embryonic remnant of the placental allantois. Its diagnosis remains ambiguous with late‐stage cancer detection and represents a highly aggressive disease. Due to its rarity, there is no clear consensus on molecular signatures and appropriate clinical management of UC.Case ReportWe report a 45‐year‐old man with recurrent urachal adenocarcinoma (UA) treated with cystectomies, chemotherapy, and radiotherapy. The patient initially presented with hematuria and abdominal pain. Imaging revealed a nodular mass arising from the superior wall of the urinary bladder and extending to the urachus. Biopsy results suggested moderately differentiated UA with muscle layer involvement. The tumor recurred after 20 months, following which, another partial cystectomy was performed. Repeat progression was noted indicating highly aggressive disease. Targeted next‐generation sequencing revealed the presence of EIF3E::RSPO2 fusion, along with BRAF and TP53 mutations, and EGFR gene amplification. This is the first case reporting the presence of this fusion in UA. Palliative medication and radiotherapy were administered to manage the disease.ConclusionCurrent treatment modality of surgery may be effective in the early stages of recurrent UA; however, a standard chemotherapy and radiotherapy regimen is yet to be determined for advanced stages. The detection of the rare EIF3E::RSPO2 fusion warrants further studies on the significance of this variant as a possible therapeutic target for improved clinical management.
Pediatric Erythroid Sarcoma Diagnostically Confirmed by Identification of a Recurrent NFIA::CBFA2T3 Fusion
Authors: Anelo Obianuju Mercy , Ma Jing , Neary Jennifer L. , Koo Selene C. , Inaba Hiroto , Pinto Soniya N. , Nguyen Nga Thi , Hoang Thach Ngoc , Bui Lan Ngoc , Klco Jeffery M. , Gheorghe Gabriela , Blackburn Patrick R. 
Published: June 2024

ABSTRACTErythroid sarcoma (ES) is exceedingly rare in the pediatric population with only a handful of reports of de novo cases, mostly occurring in the central nervous system (CNS) or orbit. It is clinically and pathologically challenging and can masquerade as a nonhematopoietic small round blue cell tumor. Clinical presentation of ES without bone marrow involvement makes diagnosis particularly difficult. We describe a 22‐month‐old female with ES who presented with a 2‐cm mass involving the left parotid region and CNS. The presence of crush/fixation artifact from the initial biopsy made definitive classification of this highly proliferative and malignant neoplasm challenging despite an extensive immunohistochemical workup. Molecular studies including RNA‐sequencing revealed a NFIA::CBFA2T3 fusion. This fusion has been identified in several cases of de novo acute erythroid leukemia (AEL) and gene expression analysis comparing this case to other AELs revealed a similar transcriptional profile. Given the diagnostically challenging nature of this tumor, clinical RNA‐sequencing was essential for establishing a diagnosis.
Gallium‐doped zirconia coatings modulate microbiological outcomes in dental implant surfaces
Authors: D'Agostino Agnese , Misiti Giulia , Scalia Alessandro Calogero , Pavarini Matteo , Fiorati Andrea , Cochis Andrea , Rimondini Lia , Borrini Vittoria Federica , Manfredi Marcello , Andena Luca , De Nardo Luigi , Chiesa Roberto 
Published: June 2024

AbstractDespite the significant recent advances in manufacturing materials supporting advanced dental therapies, peri‐implantitis still represents a severe complication in dental implantology. Herein, a sol–gel process is proposed to easily deposit antibacterial zirconia coatings onto bulk zirconia, material, which is becoming very popular for the manufacturing of abutments. The coatings' physicochemical properties were analyzed through x‐ray diffraction and scanning electron microscopy‐energy‐dispersive x‐ray spectroscopy investigations, while their stability and wettability were assessed by microscratch testing and static contact angle measurements. Uniform gallium‐doped tetragonal zirconia coatings were obtained, featuring optimal mechanical stability and a hydrophilic behavior. The biological investigations pointed out that gallium‐doped zirconia coatings: (i) displayed full cytocompatibility toward human gingival fibroblasts; (ii) exhibited significant antimicrobial activity against the Aggregatibacter actinomycetemcomitans pathogen; (iii) were able to preserve the commensal Streptococcus salivarius. Furthermore, the proteomic analyses revealed that the presence of Ga did not impair the normal oral microbiota. Still, interestingly, it decreased by 17% the presence of Fusobacterium nucleatum, a gram‐negative, strictly anaerobic bacteria that is naturally present in the gastrointestinal tract. Therefore, this work can provide a valuable starting point for the development of coatings aimed at easily improving zirconia dental implants' performance.
High rates of donor site healing using quadriceps tendon for anterior cruciate ligament reconstruction: A case series
Authors: Cognault Jérémy , Chaillot Pierre‐Fleury , Norgate Jack , Murgier Jérôme ,   International QT Interest Group,   ReSurg, Ponsot Antoine 
Published: June 2024

AbstractPurposeTo investigate the healing of the quadriceps tendon donor site after partial thickness graft harvesting through ultrasound imaging at a short‐term follow‐up of 6‐month following anterior cruciate ligament reconstruction (ACLR) and to investigate the clinical outcomes.MethodsBetween March 2019 and August 2020, 61 knees were retrospectively included in this study. Intraoperatively, the length, width and thickness of the harvested QT graft were measured. At a 6‐month follow‐up, patients were assessed by one of five radiologists, following the same protocol to calculate the defect volume, and patients performed a self‐evaluation of pain on the Visual Analogue Scale, International Knee Documentation Committee (IKDC) and the Knee injury and Osteoarthritis Outcome Scores (KOOS).ResultsIntraoperatively, the QT grafts had a volume of 4635.4 ± 912.5 mm3. Postoperatively, ultrasound was performed at 6.5 ± 0.7 months, and the defect volume was 323.3 ± 389.2 mm3, representing a healing rate of 93% ± 9% of the donor site. At a minimum 6‐month follow‐up, IKDC was 61.6 ± 16 and KOOS was 70.2 ± 16.6. Age was significantly associated with the healing rate (β: −0.005; p = 0.032).ConclusionAt 6 months follow‐up, the defect size of the QT donor site had healed by 93 ± 9% leaving a mean defect volume of 323.3 mm3 according to ultrasound measurements. This suggests that the QT has a high capacity for healing after graft harvesting, with 10 patients reaching full defect closure 6 months after surgery. The clinical relevance of these findings is that the quadriceps tendon donor site has high rates of healing, but surgeons should be aware of lower healing rates in older patients.Level of EvidenceLevel IV, retrospective case series.
Highly connected triples and Mader's conjecture
Authors: Liu Qinghai , Ying Kai , Hong Yanmei 
Published: June 2024

AbstractMader proved that, for any tree of order , every ‐connected graph with contains a subtree such that is ‐connected. We proved that any graph with minimum degree contains ‐connected triples. As a corollary, we prove that, for any tree of order , every ‐connected graph with contains a subtree such that is still ‐connected, improving Mader's condition to a linear bound.
Impact of surface chemical treatment in surgical regenerative treatment of ligature‐induced peri‐implantitis: A canine study
Authors: Qian Shu‐Jiao , Tsai Yi‐Wen , Koutouzis Theofilos , Lai Hong‐Chang , Qiao Shi‐Chong , Kotsakis Georgios A. 
Published: June 2024

AbstractBackgroundImplant surface decontamination is a critical step in peri‐implantitis treatment. The aim of this study was to assess the effect chemotherapeutic agents have on reosseointegration after treatment on ligature‐inducted peri‐implantitis.MethodsSix male canines had 36 implants placed and ligatures were placed around them for 28 weeks to establish peri‐implantitis. The peri‐implant defects were randomly treated by 1 of 3 methods: 0.12% chlorhexidine (CHX test group), 1.5% sodium hypochlorite (NaOCl test group), or saline (Control group). Sites treated with NaOCl and CHX were grafted with autogenous bone, and all sites then either received a collagen membrane or not. Histology sections were obtained at 6 months postsurgery to assess percentage of reosseointegration.ResultsThirty‐five implants were analyzed (CHX: 13; NaOCl: 14; Control:8). NaOCl‐treated sites demonstrated reosseointegration with direct bone‐to‐implant‐contact on the previously contaminated surfaces (42% mean reosseointegration), which was significantly higher than Controls (p < 0.05). Correspondingly, clinical improvement was noted with a significant reduction in probing depth from 5.50 ± 1.24 mm at baseline to 4.46 ± 1.70 mm at 6‐months postsurgery (p = 0.006). CHX‐treated sites demonstrated a nonsignificant reosseointegration of 26% (p > 0.05); however, in the majority of cases, the new bone growth was at a distance from the implant surface without contact. Probing depths did not improve in the CHX group. The use of membrane did not influence reosseointegration or probing depths (all p > 0.05).ConclusionTitanium implants with peri‐implantitis have the capacity to reosseointegrate following regenerative surgery. However, treatment response is contingent upon the chemotherapeutic agent selection. Additional chemical treatment with 1.5% NaOCl lead to the most favorable results in terms of changes in defect depth and percentage of reosseointegration as compared to CHX, which may hinder reosseointegration.
Donor site wound healing following free gingival graft surgery using platelet rich fibrin: A randomized controlled trial
Authors: Scott Se'quon M. H. , Lacy Julia A. , Palaiologou Archontia A. , Kotsakis Georgios A. , Deas David E. , Mealey Brian L. 
Published: June 2024

AbstractBackgroundThe primary purpose of this two‐arm, parallel design, randomized controlled study is to compare healing of the palatal tissue donor site when platelet‐rich fibrin (PRF) is used as a wound dressing compared to the use of a hemostatic agent. Secondary outcomes of patient pain perception and analgesic intake were also evaluated.MethodsSeventy‐four patients receiving free gingival grafts were randomized to receive either PRF (test) or hemostatic agent (control) as a palatal wound dressing by patients selecting a sealed envelope containing their group assignment (initially 37 envelopes for PRF group and 37 for hemostatic agent group). Patient pain assessment and analgesic consumption were documented using a 21‐point numerical scale (NMRS‐21) at 24, 48, and 72 hours post‐surgery. At 1‐, 2‐, 3‐, and 4‐week follow‐up appointments palatal early healing index (PEHI) scores including wound color, epithelialization, presence or absence of swelling, granulation tissue, and bleeding on gentle palpation were generated by direct intraoral examination by a blinded examiner unaware of the patients’ treatment group.ResultsNMRS‐21 pain scores showed a significant reduction in pain over time in both groups, with no significant difference between groups at any time point. No significant between‐group difference was found in the amount of analgesics taken by patients at 24, 48, and 72 hours. There was significant improvement in PEHI scores over the 4‐week time period in both groups, but there was no significant difference in PEHI score at each time point (1, 2, 3, 4 weeks) between groups. ConclusionsStudy findings suggest that there is no difference in early palatal wound healing, patient pain perception, or analgesic consumption between use of PRF or a hemostatic agent as donor‐site wound dressings.
Factors associated with skeletal‐related events in patients with bone metastatic melanoma: A retrospective study of 481 patients
Authors: Shimizu Michelle R. , de Groot Tom M. , Twining Peter K. , Kobes Tim , Ferrone Marco , Raskin Kevin , Jutte Paul C. , Cohen Sonia , Lozano‐Calderon Santiago , Groot Olivier Q. , Schwab Joseph H. 
Published: June 2024

AbstractObjectivesMetastatic bone disease is estimated to develop in up to 17% of patients with melanoma, compromising skeleton integrity resulting in skeletal‐related events (SREs), which impair quality of life and reduce survival. The objective of the study was to investigate (1) the proportion of melanoma patients developing SREs following diagnosis of bone metastasis and (2) the predictors for SREs in this patient cohort.MethodsFour hundred and eighty‐one patients with bone metastatic melanoma from two tertiary centers in the United States from 2008 to 2018 were included. The primary outcome was 90‐day and 1‐year occurrence of a SRE, including pathological fractures of bones, cord compression, hypercalcemia, radiotherapy, and surgery. Fine‐Gray regression analysis was performed for overall SREs and pathological fracture, with death as a competing risk.ResultsBy 1‐year, 52% (258/481) of patients experienced SREs, and 28% (137/481) had a pathological fracture. At 90‐day, lytic lesions, bone pain, elevated calcium and absolute lymphocyte, and decreased albumin and hemoglobin were associated with higher SRE risk. The same factors, except for decreased hemoglobin, were shown to predict development of SREs at 1‐year.ConclusionThe high incidence of SREs and pathological fractures warrants vigilance using the identified factors in this study and preventative measures during clinical oncological care.
Masseteric Atrophy Following Masseteric Nerve Transfer: Radiographic Findings of Asymmetry in the Paralyzed Face?
Authors: Vos Derek J. , Fritz Michael A. , Genther Dane J. , Byrne Patrick J. , Ciolek Peter J. 
Published: June 2024

ObjectivesTo characterize the effect of facial reanimation using masseteric nerve transfer on the masseter muscle itself, examining whether there is any demonstrable atrophy postoperatively.MethodsElectronic medical records of adult patients who underwent facial reanimation using masseteric nerve transfer at our institution over a 15‐year period were reviewed. To account for the impact of postoperative radiation, randomly selected patients who underwent radical parotidectomy without nerve transfer and received postoperative radiation served as controls in a 1:1 fashion against those who underwent masseteric nerve transfer with postoperative radiation.ResultsTwenty patients were identified who underwent masseteric nerve transfer and had sufficient pre‐ and postoperative imaging to assess masseter volume (mean age 58.2, 60% female). Of the four patients who did not receive postoperative radiation, each demonstrated masseteric atrophy on the side of their nerve transfer, with a mean reduction in masseter volume of 20.6%. The remaining 16 patients were included in the case–control analysis accounting for radiation. When compared with controls, those in the study group were found to have a statistically significant difference in atrophy (p = 0.0047) and total volume loss (p = 0.0002). The overall reduction in masseter volume in the study group was significantly higher compared with the control group, at 41.7% and 16.6%, respectively (p = 0.0001).ConclusionFacial reanimation utilizing masseteric nerve transfer appears to result in atrophy of the denervated masseter when compared with the contralateral muscle. This volume deficit may lead to further facial asymmetry for patients undergoing comprehensive reanimation surgery.Level of Evidence3 Laryngoscope, 134:4514–4520, 2024
The influence of different application patterns of propofol on the sedation courses during drug‐induced sleep endoscopy
Authors: Polievoi Yehor , Grafmans Daniel , Skliar Mariia , Kossatz Andrea , Soukup Jens , Kellner Patrick , Herzog Beatrice , Herzog Michael 
Published: June 2024

AbstractObjectiveThe course of sedation during drug‐induced sleep endoscopy (DISE) depends on the application pattern of the sedative drug. The depth of sedation should imitate light and deep sleep as well. Moreover, there should be as many breathing cycles as possible available for observation during light and deep sedation. The aim of the study was to evaluate different rates of propofol application with respect to the achieved depth and length of the course of sedation.MethodsSixty‐three consecutive patients with obstructive sleep apnea and/or snoring undergoing DISE were randomly sedated by propofol perfusion at seven different application patterns: 14, 16, 18, 19, 20, 22 mg/kg/h (0.233, 0.267, 0.3, 0.317, 0.333, 0.367 mg/kg/min) per perfusor and individual bolus application 10 mg each. Sedation depth was monitored by BiSpectral Index™ (BIS). The influence of baseline parameters and the courses of sedation were analyzed.ResultsThe application rate was the only factor that influenced the depth of sedation. Basic parameters (gender, age, body mass index, apnea‐hypopnea index) had no influence on the depth of sedation. The sedation depth was dependent on the rate of propofol application. Regimes at 14 and 16 mg/kg/h as well as bolus application did not reach BIS levels below 50 representing deep sleep. Propofol doses of more than 20 mg/kg/h led to rapid decreases of sedation levels below deep sleep niveau. Propofol rates between 18 and 20 mg/kg/h enable BIS levels below 50 representing deep sleep and providing enough breathing cycles for observation.ConclusionLower application rates of propofol provide slower courses of sedation and shallower depths of sedation. A rate of 14 mg/kg/h might be appropriate to reach a sedation plateau at light sleep. A rate of 18 mg/kg/h leads to a sedation, corresponding to deep sleep. The combination of both rates might be a suitable pattern for performing sedation‐controlled DISE.Level of evidence2: Randomized trial.
Expanding the Spectrum of GBA1‐Associated Neurodegenerative Diseases in an Italian Family
Authors: Sorrentino Cristiano , Dati Giovanna , Cuoco Sofia , Barone Paolo , Pellecchia Maria Teresa 
Published: June 2024

AbstractBackgroundHeterozygous mutations in GBA1 gene are known as most common genetic risk factor for Parkinson's disease (PD). However, role of GBA1 mutations in non‐α‐synuclein disorders is unclear.CasesCase index, 76 year‐old woman referred to our movement disorders outpatient clinic for 2‐year history of gait impairment, falls and motor slowness, with partial response to levodopa. Clinical and instrumental examinations were consistent with Progressive Supranuclear Palsy‐Corticobasal Syndrome (PSP‐CBS). Case 2 is older sister reporting depressive symptoms; however, she had dementia (MMSE 18/30), gait apraxia and vertical supranuclear gaze palsy (VSNGP). Case 3 is her deceased older sister who had been diagnosed with Corticobasal Syndrome (CBS). Case 4, older brother had been diagnosed with Parkinson's disease‐dementia (PDD) with good response to levodopa. Two affected living siblings harboring same genetic variant.ConclusionsTo our knowledge, this is the first family showing such intrafamilial variability ranging from CBS to PDD to dementia.
Gamified Closed‐Loop Intervention Enhances Tic Suppression in Children: A Randomized Trial
Authors: Rotstein Michael S. , Zimmerman‐Brenner Sharon , Davidovitch Shiri , Ben‐Haim Yael , Koryto Yuval , Sion Romi , Rubinstein Einat , Djerassi Meshi , Lubiniaker Nitzan , Peleg Tammy Pilowsky , Steinberg Tamar , Leitner Yael , Raz Gal 
Published: June 2024

AbstractBackgroundGamification of behavioral intervention for tic disorders (TDs) potentially enhances compliance and offers key clinical advantages. By delivering immediate positive feedback upon tic‐suppression, games may counteract negative reinforcement, which presumably contribute to tic consolidation by relieving uncomfortable premonitory urges.ObjectivesWe developed a gamified protocol (XTics), which leverages this potential by combining gamified tic‐triggering with immediate feedback, and evaluated its clinical value in enhancing tic suppression.MethodsXTics encompasses two conditions: Immediate and Contingent Reward (ICR), where game progression is contingent upon successful tic suppression, and Delayed Reward (DR), where game events' outcomes are random. Employing a randomized crossover design, 35 participants (aged 7–15 years) underwent daily gaming sessions over a week per condition. Improvements in our primary measures, including the inter‐tic interval (ITI) and tic severity assessment by blinded evaluators (Yale Global Tic Severity‐Total Tic Score [YGTSS‐TTS], Rush), and parents (Parent Tic Questionnaire [PTQ]), were compared between ICR and DR, and assessed across conditions for the 4‐week protocol.ResultsNo participant voluntarily left the study before completing its two‐phase protocol. As expected, ITI showed significantly larger improvement (Z = 4.19, P = 2.85 × 10–5) after ICR (1442 ± 2250%) versus DR (242 ± 493%) training, increasing at a higher pace (t(67) = 3.15, P = 0.0025). Similarly, Rush tic severity scores reduced more post‐ICR versus DR (t(47) = 3.47, P = 0.002). We observed a clinically significant reduction of 25.69 ± 23.39% in YGTSS‐TTS following a f4‐week protocol including both conditions. Parent‐reported tic severity decreased by 42.99 ± 31.69% from baseline to 3 months post‐treatment.ConclusionsThe combination of gamified tic‐triggering with immediate and contingent rewards demonstrates a promising approach for enhancing treatment efficacy in TDs, boosting traditional therapeutic methods. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Satisfactory adherence to the Dutch physical therapy guideline for patients with a total knee arthroplasty. A survey study involving 103 specialised physical therapists
Authors: Kornuijt Anke , van der Weegen Walter , Agricola Rintje , Lenssen Ton 
Published: June 2024

AbstractObjectiveTo explore and gain more insight into the usual preoperative and postoperative physical therapy (PT) treatment of patients with a total knee arthroplasty (TKA) among Dutch physical therapists experienced with TKA rehabilitation. Secondly, to evaluate physical therapists' adherence to guideline recommendations for postoperative rehabilitation.MethodsIn this cross‐sectional study, physical therapists working in primary care within a designated Dutch hospital's catchment area were surveyed online. The survey queried PT treatment approaches before surgery, during hospitalisation, and after surgery. All data were analysed descriptively. When both education and all recommended exercise modalities were used postoperatively, therapists were considered fully adherent with the Dutch clinical practice guideline.ResultsOne hundred and three therapists participated, representing a response rate of 58%. Postoperative PT treatment was applied by all therapists, of which 65 (63.1%) were fully adherent to the guideline. Partial adherence was mainly due to not using the aerobic exercise modality. Furthermore, beyond the modalities recommended in the guideline, a range of PT interventions were used. Preoperative treatment was applied by 73 therapists (70.9%). These 73 indicated that only a median of 20% (IQR 10%–40%) of their patients received preoperative PT.ConclusionsThis study revealed satisfactory adherence to guideline recommendations on postoperative management of patients with a TKA among experienced physical therapists. Aerobic exercises were utilised less often or with inappropriate intensity. Correct adherence to guideline recommendations on aerobic exercise training can result in more physically active individuals and important general health benefits.