World Journal of Clinical Cases最新文献

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Periorbital purpura can be the only initial symptom of primary light chain amyloidosis: A case report. 眶周紫癜可能是原发性轻链淀粉样变性的唯一初始症状:病例报告。
IF 1.1 4区 医学
World Journal of Clinical Cases Pub Date : 2024-09-16 DOI: 10.12998/wjcc.v12.i26.5946
Xiu-Feng Wang,Ting Li,Man Yang,Yan Huang
{"title":"Periorbital purpura can be the only initial symptom of primary light chain amyloidosis: A case report.","authors":"Xiu-Feng Wang,Ting Li,Man Yang,Yan Huang","doi":"10.12998/wjcc.v12.i26.5946","DOIUrl":"https://doi.org/10.12998/wjcc.v12.i26.5946","url":null,"abstract":"BACKGROUNDPrimary light chain amyloidosis is a rare and complex disease with complex clinical features and is highly susceptible to misdiagnosis and underdiagnosis in the early stages.CASE SUMMARYWe report a case of a 47-year-old female patient whose only initial symptom was periorbital purpura, which was not taken seriously enough. As the disease progressed, pleural effusion gradually appeared, and after systematic diagnosis and treatment, she was diagnosed with \"primary light chain amyloidosis\". She achieved rapid hematological remission after treatment with a daratumumab + bortezomib + cyclophosphamide + dexamethasone regimen.CONCLUSIONPeriorbital purpura can be the only initial symptom of primary light chain amyloidosis; we should pay attention to the cases where the initial clinical symptoms are only periorbital purpura.","PeriodicalId":23912,"journal":{"name":"World Journal of Clinical Cases","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142265224","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Risk factors and clinical significance of posterior slip of the proximal vertebral body after lower lumbar fusion. 下腰椎融合术后椎体近端后滑的风险因素和临床意义。
IF 1.1 4区 医学
World Journal of Clinical Cases Pub Date : 2024-09-16 DOI: 10.12998/wjcc.v12.i26.5885
Jia-Jun Zhu,Yi Wang,Jun Zheng,Sheng-Yang Du,Lei Cao,Yu-Ming Yang,Qing-Xi Zhang,Ding-Ding Xie
{"title":"Risk factors and clinical significance of posterior slip of the proximal vertebral body after lower lumbar fusion.","authors":"Jia-Jun Zhu,Yi Wang,Jun Zheng,Sheng-Yang Du,Lei Cao,Yu-Ming Yang,Qing-Xi Zhang,Ding-Ding Xie","doi":"10.12998/wjcc.v12.i26.5885","DOIUrl":"https://doi.org/10.12998/wjcc.v12.i26.5885","url":null,"abstract":"BACKGROUNDAdjacent segment disease (ASD) after fusion surgery is frequently manifests as a cranial segment instability, disc herniation, spinal canal stenosis, spondylolisthesis or retrolisthesis. The risk factors and mechanisms of ASD have been widely discussed but never clearly defined.AIMTo investigate the risk factors and clinical significance of retrograde movement of the proximal vertebral body after lower lumbar fusion.METHODSThis was a retrospective analysis of the clinical data of patients who underwent transforaminal lumbar interbody fusion surgery between September 2015 and July 2021 and who were followed up for more than 2 years. Ninety-one patients with degenerative lumbar diseases were included (22 males and 69 females), with an average age of 52.3 years (40-73 years). According to whether there was retrograde movement of the adjacent vertebral body on postoperative X-rays, the patients were divided into retrograde and nonretrograde groups. The sagittal parameters of the spine and pelvis were evaluated before surgery, after surgery, and at the final follow-up. At the same time, the Oswestry Disability Index (ODI) and Visual Analogue Scale (VAS) were used to evaluate the patients' quality of life.RESULTSNineteen patients (20.9%) who experienced retrograde movement of proximal adjacent segments were included in this study. The pelvic incidence (PI) of the patients in the retrograde group were significantly higher than those of the patients in the nonretrograde group before surgery, after surgery and at the final follow-up (P < 0.05). There was no significant difference in lumbar lordosis (LL) between the two groups before the operation, but LL in the retrograde group was significantly greater than that in the nonretrograde group postoperatively and at the final follow-up. No significant differences were detected in terms of the |PI-LL|, and there was no significant difference in the preoperative lordosis distribution index (LDI) between the two groups. The LDIs of the retrograde group were 68.1% ± 11.5% and 67.2% ± 11.9%, respectively, which were significantly lower than those of the nonretrograde group (75.7% ± 10.4% and 74.3% ± 9.4%, respectively) (P < 0.05). Moreover, the patients in the retrograde group had a greater incidence of a LDI < 50% than those in the nonretrograde group (P < 0.05). There were no significant differences in the ODI or VAS scores between the two groups before the operation, but the ODI and VAS scores in the retrograde group were significantly worse than those in the nonretrograde group after the operation and at the last follow-up, (P < 0.05).CONCLUSIONThe incidence of posterior slippage after lower lumbar fusion was approximately 20.9%. The risk factors are related to a higher PI and distribution of lumbar lordosis. When a patient has a high PI and insufficient reconstruction of the lower lumbar spine, adjacent segment compensation via posterior vertebral body slippage is one of the factors that significant","PeriodicalId":23912,"journal":{"name":"World Journal of Clinical Cases","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142269246","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Confocal laser endomicroscopy as a new diagnostic tool for poorly differentiated gastric adenocarcinoma. 共焦激光内窥镜作为分化不良胃腺癌的一种新诊断工具。
IF 1.1 4区 医学
World Journal of Clinical Cases Pub Date : 2024-09-16 DOI: 10.12998/wjcc.v12.i26.5845
Giuseppe Evola,Marco Vacante,Francesco R Evola
{"title":"Confocal laser endomicroscopy as a new diagnostic tool for poorly differentiated gastric adenocarcinoma.","authors":"Giuseppe Evola,Marco Vacante,Francesco R Evola","doi":"10.12998/wjcc.v12.i26.5845","DOIUrl":"https://doi.org/10.12998/wjcc.v12.i26.5845","url":null,"abstract":"Gastric cancer (GC) is a multifactorial disease, where both environmental and genetic features can have an impact on its occurrence and development. GC represents one of the leading causes of cancer-related deaths worldwide. GC is most frequent in males and is believed to arise from a series of premalignant lesions. The detection of GC at an early stage is crucial because early GC, which is an invasive stomach cancer confined to the mucosal or submucosal lining, may be curable with a reported 5-year survival rate of more than 90%. Advanced GC usually has a poor prognosis despite current treatment standards. The diagnostic efficacy of conventional endoscopy (with light endoscopy) is currently limited. Confocal laser endomicroscopy is a novel imaging technique that allows real-time in vivo histological examination of mucosal surfaces during endoscopy. Confocal laser endomicroscopy may be of great importance in the surveillance of precancerous gastric lesions and in the diagnosis of GC. In this editorial we commented on the article about this topic published by Lou et al in the recent issue of the World Journal of Clinical Cases.","PeriodicalId":23912,"journal":{"name":"World Journal of Clinical Cases","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142265221","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Sclerosing epithelioid fibrosarcoma of the pancreas: A case report. 胰腺硬化性上皮样纤维肉瘤:病例报告。
IF 1.1 4区 医学
World Journal of Clinical Cases Pub Date : 2024-09-16 DOI: 10.12998/wjcc.v12.i26.5983
Meng-Qing Sun,Li-Na Guo,Yan You,Yan-Yu Qiu,Xiao-Dong He,Xian-Lin Han
{"title":"Sclerosing epithelioid fibrosarcoma of the pancreas: A case report.","authors":"Meng-Qing Sun,Li-Na Guo,Yan You,Yan-Yu Qiu,Xiao-Dong He,Xian-Lin Han","doi":"10.12998/wjcc.v12.i26.5983","DOIUrl":"https://doi.org/10.12998/wjcc.v12.i26.5983","url":null,"abstract":"BACKGROUNDA sclerosing epithelioid fibrosarcoma (SEF) is a rare malignant fibroblastic soft tissue tumor that rarely occurs in intra-abdominal organs. A case of a SEF in the pancreatic head is reported herein, including its clinical manifestations, preoperative imaging features, gross specimen and pathological findings.CASE SUMMARYA 33-year-old male patient was admitted to Peking Union Medical College Hospital in December 2023 due to a one-year history of intermittent upper abdominal pain and the discovery of a pancreatic mass. The patient underwent an enhanced computed tomography scan of the abdomen, which revealed a well-defined, round mass with clear borders and calcifications in the pancreatic head. The mass exhibited progressive, uneven mild enhancement, measuring approximately 6.6 cm × 6.3 cm. The patient underwent laparoscopic pylorus-preserving pancreaticoduodenectomy. Postoperative pathological examination revealed that the lesion was consistent with a SEF. At the 3-month postoperative follow-up, the patient did not report any short-term complications, and there were no signs of tumor recurrence.CONCLUSIONSEFs are rare malignant fibrous soft tissue tumors. SEFs rarely develop in the pancreas, and its preoperative diagnosis depends on imaging findings, with confirmation depending on pathological examination and immunohistochemistry. Currently, only four cases of pancreatic SEF have been reported in studies written in English. This case is the first reported case of a pancreatic SEF by a clinical physician.","PeriodicalId":23912,"journal":{"name":"World Journal of Clinical Cases","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142265173","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Impact of web-based positive psychological intervention on emotions, psychological capital, and quality of life in gastric cancer patients on chemotherapy. 基于网络的积极心理干预对胃癌化疗患者的情绪、心理资本和生活质量的影响。
IF 1.1 4区 医学
World Journal of Clinical Cases Pub Date : 2024-09-16 DOI: 10.12998/wjcc.v12.i26.5877
Yu-Yu Xin,Dan Zhao
{"title":"Impact of web-based positive psychological intervention on emotions, psychological capital, and quality of life in gastric cancer patients on chemotherapy.","authors":"Yu-Yu Xin,Dan Zhao","doi":"10.12998/wjcc.v12.i26.5877","DOIUrl":"https://doi.org/10.12998/wjcc.v12.i26.5877","url":null,"abstract":"BACKGROUNDGastric cancer is a malignant digestive tract tumor that originates from the epithelium of the gastric mucosa and occurs in the gastric antrum, particularly in the lower curvature of the stomach.AIMTo evaluate the impact of a positive web-based psychological intervention on emotions, psychological capital, and quality of survival in gastric cancer patients on chemotherapy.METHODSFrom January 2020 to October 2023, 121 cases of gastric cancer patients on chemotherapy admitted to our hospital were collected and divided into a control group (n = 60) and an observation group (n = 61) according to the admission order. They were given either conventional nursing care alone and conventional nursing care combined with web-based positive psychological interventions, respectively. The two groups were compared in terms of negative emotions, psychological capital, degree of cancer-caused fatigue, and quality of survival.RESULTSAfter intervention, the number of patients in the observation group who had negative feelings toward chemotherapy treatment was significantly lower than that of the control group (P < 0.05); the Positive Psychological Capital Questionnaire score was considerably higher than that of the control group (P < 0.05); the degree of cancer-caused fatigue was significantly lower than that of the control group (P < 0.05); and the Quality of Life Scale for Cancer Patients (QLQ-30) score was significantly higher than that of the control group (P < 0.05).CONCLUSIONImplementing a web-based positive psychological intervention for gastric cancer chemotherapy patients can effectively improve negative emotions, enhance psychological capital, and improve the quality of survival.","PeriodicalId":23912,"journal":{"name":"World Journal of Clinical Cases","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142269245","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Modifiable factors mediating the effects of educational attainment on gestational diabetes mellitus: A two-step Mendelian randomization study. 教育程度对妊娠糖尿病影响的可调节因素:孟德尔随机两步法研究。
IF 1.1 4区 医学
World Journal of Clinical Cases Pub Date : 2024-09-16 DOI: 10.12998/wjcc.v12.i26.5937
Ming-Yue Ma,Ya-Song Zhao
{"title":"Modifiable factors mediating the effects of educational attainment on gestational diabetes mellitus: A two-step Mendelian randomization study.","authors":"Ming-Yue Ma,Ya-Song Zhao","doi":"10.12998/wjcc.v12.i26.5937","DOIUrl":"https://doi.org/10.12998/wjcc.v12.i26.5937","url":null,"abstract":"BACKGROUNDAlthough there is currently a wealth of evidence to indicate that maternal educational attainment is associated with gestational diabetes mellitus (GDM), the specific modifiable risk factors that mediate the causal relationship between these two variables have yet to be identified.AIMTo identify the specific modifiable risk factors that mediate the causal relationship between the level of maternal education and GDM.METHODSMendelian randomization (MR) was conducted using data from genome-wide association studies of European populations. We initially performed a two-sample MR analysis using data on genetic variants associated with the duration of education as instruments, and subsequently adopted a two-step MR approach using metabolic and lifestyle factors as mediators to examine the mechanisms underlying the relationship between the level of maternal education and risk of developing GDM. In addition, we calculated the proportions of total causal effects mediated by identified metabolic and lifestyle factors.RESULTSA genetically predicted higher educational attainment was found to be associated with a lower risk of developing GDM (OR: 0.71, 95%CI: 0.60-0.84). Among the metabolic factors assessed, four emerged as potential mediators of the education-GDM association, which, ranked by mediated proportions, were as follows: Waist-to-hip-ratio (31.56%, 95%CI: 12.38%-50.70%), body mass index (19.20%, 95%CI: 12.03%-26.42%), high-density lipoprotein cholesterol (12.81%, 95%CI: 8.65%-17.05%), and apolipoprotein A-1 (7.70%, 95%CI: 4.32%-11.05%). These findings proved to be robust to sensitivity analyses.CONCLUSIONOur findings indicate a causal relationship between lower levels of maternal education and the risk of developing GDM can be partly explained by adverse metabolic profiles.","PeriodicalId":23912,"journal":{"name":"World Journal of Clinical Cases","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142265222","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Fragile hearts: Unveiling the crucial layers of frailty in elderly patients undergoing percutaneous coronary interventions. 脆弱的心脏:揭开接受经皮冠状动脉介入治疗的老年患者脆弱的关键层次。
IF 1.1 4区 医学
World Journal of Clinical Cases Pub Date : 2024-09-16 DOI: 10.12998/wjcc.v12.i26.5998
Andreas Mitsis,Michael Myrianthefs
{"title":"Fragile hearts: Unveiling the crucial layers of frailty in elderly patients undergoing percutaneous coronary interventions.","authors":"Andreas Mitsis,Michael Myrianthefs","doi":"10.12998/wjcc.v12.i26.5998","DOIUrl":"https://doi.org/10.12998/wjcc.v12.i26.5998","url":null,"abstract":"Wang and Liu's systematic review of frailty among elderly patients undergoing percutaneous coronary intervention (PCI) revealed that patients with frailty have significantly higher risks of all-cause and in-hospital death, major undesirable cardiovascular events, and major haemorrhage. Frailty is associated with adverse events, prolonged hospital stays, increased complications, and elevated mortality risk due to diminished physiological reserves. Integrating frailty into risk assessment tools is crucial, and gait speed has emerged as a key predictor of frailty. Recognizing the impact of frailty leads to personalized and informed decision-making, and frailty assessments should be performed. This holistic approach can inform tailored interventions, thereby optimizing outcomes for this vulnerable population undergoing PCI.","PeriodicalId":23912,"journal":{"name":"World Journal of Clinical Cases","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142265178","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Paired box proteins as diagnostic biomarkers for endocervical adenocarcinoma. 作为宫颈内膜腺癌诊断生物标志物的配对盒蛋白
IF 1.1 4区 医学
World Journal of Clinical Cases Pub Date : 2024-09-16 DOI: 10.12998/wjcc.v12.i26.5854
Jia-Hui Zhou,Xiang-Ning Zhang
{"title":"Paired box proteins as diagnostic biomarkers for endocervical adenocarcinoma.","authors":"Jia-Hui Zhou,Xiang-Ning Zhang","doi":"10.12998/wjcc.v12.i26.5854","DOIUrl":"https://doi.org/10.12998/wjcc.v12.i26.5854","url":null,"abstract":"In this editorial, we commented on the article by Akers et al published in the recent issue of the World Journal of Clinical Cases. We focused specifically on the role of the transcription factor paired box protein 8 (PAX8) belonging to the family PAX in the carcinogenesis of a gynecologic tumor, endocervical adenocarcinoma, arising from the tissue of mesonephric origin, and the potential diagnostic value for the same type of neoplasms. The global vaccination program of human papillomavirus (HPV) has dramatically reduced the incidence of cervical cancer, including cases of adenocarcinoma. The type of adenoid epithelial origin has a lower frequency of HPV detection but tends to be more aggressive and fatal. Cases of endocervical adenocarcinoma occurring in females of menopause age have been described in the 2023 volume of the World Journal of Clinical Cases and in our study recently published in Oncol Lett. The histopathological findings and immunohistochemical assays showed that the lesions had glandular morphology, and the specimens in these two reports were immunohistochemically positive for the transcription factor PAX8, albeit that they had opposing expression profiles of tumor suppressor p16 and estrogen receptor and the presence of the HPV genome. The presence of a mucin protein, MUC 5AC, as revealed in both studies suggested target molecules for the diagnosis of mucinous adenoid type of uterine tumor and other histological origins. The clinical outcome was unfavorable due to metastasis and recurrence. This prompted the improvement of the antitumor modality, with the introduction of precise targeting therapy. Mucin has now been reported to be the therapeutic target for adenocarcinomas.","PeriodicalId":23912,"journal":{"name":"World Journal of Clinical Cases","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142265175","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Endoscopic ultrasound-guided biliary drainage using electrocautery-enhanced lumen-apposing metal stent for malignant biliary obstruction: A promising procedure. 在内窥镜超声引导下使用电灼增强型管腔贴合金属支架进行胆道引流,治疗恶性胆道梗阻:一种前景广阔的手术。
IF 1.1 4区 医学
World Journal of Clinical Cases Pub Date : 2024-09-16 DOI: 10.12998/wjcc.v12.i26.5859
Si-Ze Wu
{"title":"Endoscopic ultrasound-guided biliary drainage using electrocautery-enhanced lumen-apposing metal stent for malignant biliary obstruction: A promising procedure.","authors":"Si-Ze Wu","doi":"10.12998/wjcc.v12.i26.5859","DOIUrl":"https://doi.org/10.12998/wjcc.v12.i26.5859","url":null,"abstract":"In this editorial, we comment on the article by Peng et al. Palliative drainage for biliary obstruction resulting from unresectable malignant lesions includes internal and external drainage. The procedures of biliary drainage are usually guided by fluoroscopy or transcutaneous ultrasound, endoscopic ultrasound (EUS), or both. Endoscopic retrograde cholangiopancreatography (ERCP) has been primarily recommended for the management of biliary obstruction, while EUS-guided biliary drainage and percutaneous transhepatic biliary drainage (PTBD) are alternative choices for cases where ERCP has failed or is impossible. PTBD is limited by shortcomings of a higher rate of adverse events, more reinterventions, and severe complications. EUS-guided biliary drainage has a lower rate of adverse events than PTBD. EUS-guided biliary drainage with electrocautery-enhanced lumen-apposing metal stent (ECE-LAMS) enables EUS-guided biliary-enteric anastomosis to be performed in a single step and does not require prior bile duct puncture or a guidewire. The present meta-analysis showed that ECE-LAMS has a high efficacy and safety in relieving biliary obstruction in general, although the results of LAMS depending on the site of biliary obstruction. This study has highlighted the latest advances with a larger sample-based comprehensive analysis.","PeriodicalId":23912,"journal":{"name":"World Journal of Clinical Cases","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142265219","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Orthopedic manifestations of Li-Fraumeni syndrome: Prevention and treatment of a polymorphic spectrum of malignancies. 李-弗劳米尼综合征的骨科表现:多态恶性肿瘤的预防和治疗。
IF 1.1 4区 医学
World Journal of Clinical Cases Pub Date : 2024-09-16 DOI: 10.12998/wjcc.v12.i26.5839
Giulia Cenci,Valerio Pace
{"title":"Orthopedic manifestations of Li-Fraumeni syndrome: Prevention and treatment of a polymorphic spectrum of malignancies.","authors":"Giulia Cenci,Valerio Pace","doi":"10.12998/wjcc.v12.i26.5839","DOIUrl":"https://doi.org/10.12998/wjcc.v12.i26.5839","url":null,"abstract":"Li-Fraumeni syndrome (LFS) is a rare hereditary cancer predisposition syndrome characterized by a heightened risk of developing various malignancies at an early age. Emerging evidence suggests a correlation between LFS and orthopedic manifestations, underscoring the importance of orthopedic screening in individuals with this syndrome. Pediatric cancer is rare. It is estimated that more than 10%-15% of tumors are secondary to a pathogenic variant in a cancer predisposition gene. More than 100 cancer predisposition genes and their association with syndromes or isolated tumors have been identified. LFS is one of those who have been most widely described. Patients with this syndrome present a high risk of developing one or more tumors. Its knowledge enables the establishment of a follow-up protocol for the patient and affected family members, facilitating early detection of new tumors and reducing tumor and treatment-related morbidity and mortality. The primary objective of this invited editorial article is to provide a thorough review of the existing knowledge of LFS and its polymorphic spectrum of related malignancies, with a focus on aspects directly linked to orthopedic manifestations. Another objective is to offer an update on the most modern prevention, treatment and follow up guidelines that could be useful for the physicians dealing with this cohort of patients.","PeriodicalId":23912,"journal":{"name":"World Journal of Clinical Cases","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142265226","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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