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Targeted gene sequencing and bioinformatics analysis of patients with gallbladder neuroendocrine carcinoma:A case report

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World Journal of Gastrointestinal Oncology 2025年第1期17卷 239-251页

作者： Yun-Chuan Yang Zhi-Tao Chen Da-Long Wan Hui Tang Mu-Lin Liu department of Medical College Jinan UniversityGuangzhou 510000Guangdong ProvinceChina department of General surgery The First Affiliated Hospital of Bengbu Medical UniversityBengbu 233000Anhui ProvinceChina department of Hepatobiliary surgery Shulan(Hangzhou)Hospital Affiliated to Zhejiang Shuren University Shulan International Medical CollegeHangzhou 310022Zhejiang ProvinceChina department of Hepatobiliary and Pancreatic surgery The First Affiliated HospitalCollege of MedicineZhejiang UniversityHangzhou 310003Zhejiang ProvinceChina department of Pathology The First Affiliated Hospital of Medical School of Zhejiang UniversityHangzhou 310000Zhejiang ProvinceChina

BACKGROUND Gallbladder neuroendocrine carcinoma(NEC)represents a subtype of gallbladder malignancies characterized by a low incidence,aggressive nature,and poor *** its clinical severity,the genetic alterations,mechanisms,and signaling pathways underlying gallbladder NEC remain *** SUMMARY This case study presents a rare instance of primary gallbladder NEC in a 73-year-old female patient,who underwent a radical cholecystectomy with hepatic hilar lymphadenectomy and resection of liver segments IV-B and *** gene sequencing and bioinformatics analysis tools,including STRING,GeneMANIA,Metascape,TRRUST,Sangerbox,cBioPortal and GSCA,were used to analyze the biological functions and features of mutated genes in gallbladder *** mutations(APC,ARID2,IFNA6,KEAP1,RB1,SMAD4,TP53,BTK,GATA1,GNAS,and PRDM3)were identified,and the tumor mutation burden was determined to be 9.52 muts/Mb via targeted gene sequencing.A protein-protein interaction network showed significant interactions among the twelve mutated *** Ontology and Kyoto Encyclopedia of Genes and Genomes analyses were used to assess mutation functions and *** results revealed 40 tumor-related pathways.A key regulatory factor for gallbladder NEC-related genes was identified,and its biological functions and features were compared with those of gallbladder *** Gallbladder NEC requires standardized *** with other gallbladder carcinomas revealed clinical phenotypes,molecular alterations,functional characteristics,and enriched pathways.

关键词： Gallbladder neuroendocrine carcinoma Targeted-gene sequencing Bioinformatics analysis case report Immunocytochemistry Case report

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Dihydropyrimidine dehydrogenase polymorphisms in patients with gastrointestinal malignancies and their impact on fluoropyrimidine tolerability: Experience from a single Italian institution

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World Journal of Gastrointestinal Oncology 2025年第1期17卷 101-109页

作者： Mariarosaria D'Amato Gennaro Iengo Nicola Massa Chiara Carlomagno department of Oncology Ospedale San Rocco ASL CasertaSessa Aurunca 81037CampaniaItaly department of Clinical Medicine and surgery University of Naples Federico IINaples 80131CampaniaItaly

BACKGROUND Fluoropyrimidines are metabolized in the liver by the enzyme dihydropyrimidine dehydrogenase(DPD),encoded by the DPYD *** 7%of the European population is a carrier of DPYD gene polymorphisms associated with reduced DPD enzyme *** To assess the prevalence of DPYD polymorphisms and their impact on fluoropyrimidine tolerability in Italian patients with gastrointestinal *** A total of 300 consecutive patients with a diagnosis of gastrointestinal malignancy and treated with a fluoropyrimidine-based regimen were included in the analysis and divided into two cohorts:(1)149 patients who started fluoropyrimidines after DPYD testing;and(2)151 patients treated without DPYD *** the patients in cohort A,15%tested only the DPYD2A polymorphism,19%tested four polymorphisms(DPYD2A,HapB3,c.2846A>T,and DPYD13),and 66%tested five polymorphisms including *** Overall,14.8%of patients were found to be carriers of a DPYD variant,the most common being DPYD6(12.1%).Patients in cohort A reported≥G3 toxicities(P=0.00098),particularly fewer nonhematological toxicities(P=0.0028)compared with cohort B,whereas there was no statistically significant difference between the two cohorts in hematological toxicities(P=0.6944).Significantly fewer chemotherapy dose reductions(P=0.00002)were observed in cohort A compared to cohort B,whereas there was no statistically significant differences in chemotherapy *** Although this study had a limited sample size,it provides additional information on the prevalence of DPYD polymorphisms in the Italian population and highlights the role of pharmacogenetic testing to prevent severe toxicity.

关键词： Dihydropyrimidine dehydrogenase DPYD polymorphisms Fluoropyrimidine Caucasian population Gastrointestinal cancers

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Pyroptosis,ferroptosis,and autophagy in spinal cord injury:regulatory mechanisms and therapeutic targets

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Neural Regeneration Research 2025年第10期20卷 2787-2806页

作者： Qingcong Zheng Du Wang Rongjie Lin Weihong Xu department of Spinal surgery the First Affiliated Hospital of Fujian Medical UniversityFuzhouFujian ProvinceChina Arthritis Clinical and Research Center Peking University People’s HospitalBeijingChina department of Orthopedic surgery Fujian Medical University Union HospitalFuzhouFujian ProvinceChina

Regulated cell death is a form of cell death that is actively controlled by *** studies have shown that regulated cell death plays a key role after spinal cord *** and ferroptosis are newly discovered types of regulated cell deaths that have been shown to exacerbate inflammation and lead to cell death in damaged spinal ***,a complex form of cell death that is interconnected with various regulated cell death mechanisms,has garnered significant attention in the study of spinal cord *** injury triggers not only cell death but also cellular survival *** signaling pathways play pivotal roles in influencing the processes of both deterioration and repair in spinal cord injury by regulating pyroptosis,ferroptosis,and ***,this review aims to comprehensively examine the mechanisms underlying regulated cell deaths,the signaling pathways that modulate these mechanisms,and the potential therapeutic targets for spinal cord *** analysis suggests that targeting the common regulatory signaling pathways of different regulated cell deaths could be a promising strategy to promote cell survival and enhance the repair of spinal cord ***,a holistic approach that incorporates multiple regulated cell deaths and their regulatory pathways presents a promising multi-target therapeutic strategy for the management of spinal cord injury.

关键词： autophagy cell death ferroptosis inflammation pathological mechanisms pyroptosis regulated cell death regulatory pathways spinal cord injury therapeutic targets

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Controversies around the treatment of peritoneal metastases of colorectal cancer

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World Journal of Gastrointestinal Oncology 2025年第1期17卷 260-264页

作者： Francisco J Morera-Ocon Clara Navarro-Campoy Ticiano Guastella Francisco Landete-Molina department of General surgery Hospital General de RequenaRequena 46340Spain department of Gynecology and Obstetrics Hospital 9 OctubreValencia 46015Spain department of Pathology Hospital General de RequenaRequena 46340Spain

In this editorial we examine the article by Wu et al published in the World Journal of Gastrointestinal *** resection for peritoneal metastases from colorectal cancer(CRC)has been gradually accepted in the medical oncology community.A randomized trial(PRODIGE 7)on cytoreductive surgery(CRS)with hyperthermic intraperitoneal chemotherapy(HIPEC)failed to prove any benefit of oxaliplatin in the overall survival of patients with peritoneal metastases from colorectal ***,isolated systemic chemotherapy for CRC stage IV has demonstrated a reduced response in peritoneal metastases than that obtained in other metastatic sites such as the *** tool is required in those patients to achieve more local control of the *** groups in peritoneal surgery continue to use HIPEC in their procedures,using other agents than oxaliplatin for peritoneal cavity infusion,such as mitomycin *** patients present with complex surgical issues to manage,and consequently a large burden of complications has to be ***,identifying patients who will benefit from CRS with or without HIPEC would be of great interest.

关键词： Colorectal cancer Peritoneal metastasis Hyperthermic intraoperative chemotherapy Treatment strategies Peritoneal Surface Oncology GroupInternational

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Silk-based nerve guidance conduits with macroscopic holes modulate the vascularization of regenerating rat sciatic nerve

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Neural Regeneration Research 2025年第6期20卷 1789-1800页

作者： Carina Hromada Patrick Heimel Markus Kerbl LászlóGál Sylvia Nürnberger Barbara Schaedl James Ferguson Nicole Swiadek Xavier Monforte Johannes C.Heinzel Antal Nógrádi Andreas H.Teuschl-Woller David Hercher department Life Science Engineering University of Applied Sciences Technikum WienViennaAustria Austrian Cluster for Tissue Regeneration ViennaAustria Ludwig Boltzmann Institute for Traumatology The Research Center in Cooperation with AUVAViennaAustria University Clinic of Dentistry Medical University of ViennaViennaAustria department of Plastic Reconstructive and Aesthetic SurgeryLandesklinikum Wiener Neustadt2700 Wiener NeustadtAustria department of Anatomy Histology and EmbryologyAlbert Szent-Györgyi Medical SchoolUniversity of SzegedSzegedHungary Medical University of Vienna Department of Orthopedics and Trauma SurgeryDevision of Trauma SurgeryViennaAustria department of Hand- PlasticReconstructive and Burn SurgeryBG Unfallklinik TuebingenUniversity of TuebingenTuebingenGermany

Peripheral nerve injuries induce a severe motor and sensory deficit. Since the availability of autologous nerve transplants for nerve repair is very limited, alternative treatment strategies are sought, including the use of tubular nerve guidance conduits(tNGCs). However, the use of tNGCs results in poor functional recovery and central necrosis of the regenerating tissue, which limits their application to short nerve lesion defects(typically shorter than 3 cm). Given the importance of vascularization in nerve regeneration, we hypothesized that enabling the growth of blood vessels from the surrounding tissue into the regenerating nerve within the tNGC would help eliminate necrotic processes and lead to improved regeneration. In this study, we reported the application of macroscopic holes into the tubular walls of silk-based tNGCs and compared the various features of these improved silk^(+) tNGCs with the tubes without holes(silk^(–) tNGCs) and autologous nerve transplants in an 8-mm sciatic nerve defect in rats. Using a combination of micro-computed tomography and histological analyses, we were able to prove that the use of silk^(+) tNGCs induced the growth of blood vessels from the adjacent tissue to the intraluminal neovascular formation. A significantly higher number of blood vessels in the silk^(+) group was found compared with autologous nerve transplants and silk^(–), accompanied by improved axon regeneration at the distal coaptation point compared with the silk^(–) tNGCs at 7 weeks postoperatively. In the 15-mm(critical size) sciatic nerve defect model, we again observed a distinct ingrowth of blood vessels through the tubular walls of silk^(+) tNGCs, but without improved functional recovery at 12 weeks postoperatively. Our data proves that macroporous tNGCs increase the vascular supply of regenerating nerves and facilitate improved axonal regeneration in a short-defect model but not in a critical-size defect model. This study suggests that further optimizatio

关键词： axon regeneration blood vessel functional recovery macroporous nerve lesion peripheral nerve repair sciatic nerve silk-based nerve guidance conduit vascularization

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Success of intravenous immunoglobulin and steroids in managing severe COVID-19 following lung transplantation:A case report

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World Journal of Transplantation 2025年第1期15卷 178-184页

作者： Yen-Shou Kuo Kuan-Hsun Lin Ying-Yi Chen Yuan-Ming Tsai Ti-Hui Wu Hsu-Kai Huang Tsai-Wang Huang Division of Thoracic surgery Department of SurgeryTri-Service General HospitalNational Defense Medical CenterTaipei 114202Taiwan

BACKGROUND Coronavirus disease 2019(COVID-19)pneumonia with severe septic shock and acute respiratory distress syndrome(ARDS)are critical illnesses for patients following *** immunoglobulin(IVIG)plays a role in both immune support and inflammation control,especially in immunocompromised *** case report describes the first successful experience using IVIG and pulse steroids to manage this critical condition following lung *** SUMMARY A 65-year-old male patient reported a history of chronic obstructive pulmonary disease and poor lung function and received bilateral sequential lung ***,he developed COVID-19 pneumonia,severe septic shock,and *** recovered from this critical condition after empirical antibiotics administration and veno-venous extracorporeal membrane oxygenation,in addition to IVIG and pulse *** IVIG is a valuable adjunct in managing severe sepsis in lung transplant recipients after COVID-19 *** aim,for the first time,to report the success of such a management approach for COVID-19 ARDS and sepsis in the post-lung transplant *** further investigations,this is a starting point for wider analysis of such an approach in this setting and consequently helps guide clinical practice for such a challenging patient population moving forward.

关键词： COVID-19 Septic shock Intravenous immunoglobulin Lung transplantation Post-transplant complications Case report

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Clinical outcomes for Conduits and Scaffolds in peripheral nerve repair

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World Journal of Clinical Cases 2015年第2期3卷 141-147页

作者： David J Gerth Jun Tashiro Seth R Thaller Division of Plastic Aestheticand Reconstructive SurgeryDe Witt-Daughtry Family Department of SurgeryLeonard M. Miller School of MedicineUniversity of Miami

The gold standard of peripheral nerve repair is nerve autograft when tensionless repair is not possible. Use of nerve autograft has several shortcomings, *** include limited availability of donor tissue,sacrifice of a functional nerve, and possible neuroma formation. In order to address these deficiencies,researchers have developed a variety of biomaterials available for repair of peripheral nerve gaps. We review the clinical studies published in the English literature detailing outcomes and reconstructive *** of the material used or the type of nerve repaired, outcomes are generally similar to nerve autograft in gaps less than 3 cm. New biomaterials currently under preclinical evaluation may provide improvements in outcomes.

关键词： Plastic surgery Reconstructive surgical procedures Nerve tissue Conduit Scaffold

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Surgical site soft tissue thickness as a predictor of complications following arthroplasty

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World Journal of Methodology 2025年第2期15卷 62-73页

作者： Kevin A Wu Faheem Pottayil Crystal Jing Ankit Choudhury Albert T Anastasio department of Orthopaedic surgery Duke University HospitalDurhamNC 27710United States department of Orthopaedic surgery Medical College of Georgia at Augusta UniversityAugustaGA 30912United States department of Orthopaedic surgery Medical College of WisconsinMilwaukeeWI 53226United States

Appreciation of soft-tissue thickness(STT)at surgical sites is an increasingly recognized aspect of arthroplasty procedures as it may potentially impacting postoperative *** research has focused on the predictive value of preoperative STT measurements for complications following various forms of arthroplasty,particularly infections,across procedures such as total knee,hip,shoulder,and ankle *** studies have indicated that increased STT is associated with a higher risk of complications,including infection and wound healing *** assessment of STT before surgery could play a crucial role in identifying patients at a higher risk of complications and may be instru-mental in guiding preoperative planning to optimize outcomes in arthroplasty *** measurement techniques and further research are essential to enhance the reliability and clinical utility of STT assessment for arthro-plasty surgery.

关键词： Soft-tissue thickness Arthroplasty Surgical complications Total knee arthroplasty Total hip arthroplasty Total shoulder arthroplasty Total ankle arthroplasty Preoperative assessment Wound healing Infection risk

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Biliary-colonic fistula caused by cholecystectomy bile duct injury

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Hepatobiliary & Pancreatic Diseases International 2013年第4期12卷 443-445页

作者： Francisco Igor B Macedo Victor J Casillas James S Davis Joe U Levi Danny Sleeman dewitt daughtry family department of surgery University of Miami Miller School of Medicine and Ryder Trauma Center/Jackson Memorial HospitalMiami Florida USA department of Radiology University of Miami Miller School of Medicine and Ryder Trauma Center/Jackson Memorial HospitalMiami Florida USA

Biliary-colonic fistula is a rare complication after laparoscopic cholecystectomy. We present a case of post-cholecystectomy iatrogenic biliary injury that resulted in a fistula between the common hepatic duct and large bowel. Magnetic resonance cholangiopancreatography provided good visualization of injury even with concurrent normal level of alkaline phosphatase. Radiologic findings and surgical management of this condition are discussed in detail.

关键词： cholecystectomy magnetic resonance imaging biliary tract disease

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Acquired sensorineural hearing loss,oxidative stress,and microRNAs

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Neural Regeneration Research 2025年第9期20卷 2513-2519页

作者： Desmond A.Nunez Ru C.Guo Division of Otolaryngology–Head&Neck surgery Department of SurgeryFaculty of MedicineThe University of British ColumbiaVancouverBCCanada Division of Otolaryngology–Head&Neck surgery Gordon&Leslie Diamond Health Care CentreVancouver General HospitalVancouverBCCanada Faculty of Medicine–The University of British Columbia VancouverBCCanada

Hearing loss is the third leading cause of human ***-related hearing loss,one type of acquired sensorineural hearing loss,is largely responsible for this escalating global health ***-induced,ototoxic,and idiopathic sudden sensorineural are other less common types of acquired hearing *** etiology of these conditions is complex and multi-fa ctorial involving an interplay of genetic and environmental *** stress has recently been proposed as a likely linking cause in most types of acquired sensorineural hearing *** non-coding RNA sequences known as microRNAs(miRNAs)have increasingly been shown to play a role in cellular hypoxia and oxidative stress responses including promoting an apoptotic *** hair cell death is a central histopathological finding in sensorineural hearing *** these cells do not regenerate in humans,it underlies the irreversibility of human age-related hearing *** EMBASE,Ovid MEDLINE,Web of Science Core Collection,and *** databases over the period August 1,2018 to July 31,2023 were searched with"hearing loss,""hypoxamiRs,""hypoxia,""microRNAs,""ischemia,"and"oxidative stress"text words for English language primary study publications or registered clinical *** red clinical trials known to the senior author we re also assessed.A total of 222studies were thus *** excluding duplicates,editorials,retra ctions,secondary research studies,and non-English language articles,39 primary studies and clinical trials underwent full-text *** resulted in 11 animal,in vitro,and/or human subject journal articles and 8 registered clinical trial database entries which form the basis of this narrative *** miR-34a and miR-29b levels increase with age in *** miRNAs were demonstrated in human neuroblastoma and murine cochlear cell lines to target Sirtuin 1/peroxisome proliferato r-activated receptor gamma coactivator-1-alpha(SIRT1/P GC-1α),SIRT

关键词： hearing loss hypoxia microRNAs oxidative stress sensorineural

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