Advancements in Case Studies最新文献_第4页

Prolonged Survival with Regorafenib in Metastatic Cholangiocarcinoma: Case Report 转移性胆管癌使用瑞非尼延长生存期:一例报告

Advancements in Case Studies Pub Date : 2020-04-14 DOI: 10.31031/aics.2020.02.000542

Capareli Fc, Conte Ga, M. Alidoost, J. Mikhail, Hossain Ma

{"title":"Prolonged Survival with Regorafenib in Metastatic Cholangiocarcinoma: Case Report","authors":"Capareli Fc, Conte Ga, M. Alidoost, J. Mikhail, Hossain Ma","doi":"10.31031/aics.2020.02.000542","DOIUrl":"https://doi.org/10.31031/aics.2020.02.000542","url":null,"abstract":"Background: Advanced cholangiocarcinoma is a rare, aggressive tumor. Treatment is limited and very few systemic therapies are available. An effort for new drugs development is in course, which aims higher response rates, prolonged survival and better quality of life. Currently, immune checkpoint inhibitors and tyrosine kinase inhibitors have been used as new approaches after first- or second-line chemotherapy. Case Presentation: A 49-year-old woman, diagnosed in 2013 with an intrahepatic cholangiocarcinoma, underwent surgery (pT2pN1) followed by adjuvant capecitabine and radiotherapy. Disease relapse occurred 9 months later, with a unique hepatic lesion that was treated with gemcitabine and cisplatin following liver ablation by radiofrequency. After 2 years, the identification of metastatic lesions in liver, lymph nodes and bones lead the patient to a re-exposure to gemcitabine and cisplatin, which resulted in partial tumor response, accompanied by limiting myelotoxicity induced by chemotherapy. A combination of fluorouracil, leucovorin and irinotecan was started, but disease progressed after 7 cycles. The patient received regorafenib in a third line setting, which resulted in a substantial metabolic response in all secondary lesions. The patient remains with stable disease for more than 16 months. Conclusion: A surprising prolonged survival with regorafenib was observed. Selecting molecular targets is a promising field in the precision oncology.","PeriodicalId":148950,"journal":{"name":"Advancements in Case Studies","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133437396","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Fragile X Syndrome: A Rare Case of a Female Carrier Exhibiting the Phenotypic Spectrum of Disease Features 脆性X综合征:罕见的女性携带者表现出疾病特征的表型谱

Advancements in Case Studies Pub Date : 2020-03-13 DOI: 10.31031/aics.2020.02.000540

Yan Leyfman

{"title":"Fragile X Syndrome: A Rare Case of a Female Carrier Exhibiting the Phenotypic Spectrum of Disease Features","authors":"Yan Leyfman","doi":"10.31031/aics.2020.02.000540","DOIUrl":"https://doi.org/10.31031/aics.2020.02.000540","url":null,"abstract":"Fragile X Syndrome is an X-linked recessive mutation in the Fragile X Mental Retardation 1 (FMR1) gene that results in CGG trinucleotide repeats in the 5’ untranslated arm of the FMR1 gene resulting in methylation that silences and/or reduces gene expression. The condition that manifests along a spectrum of symptoms depending on the number of repeats, where a premutation (defined as 55 to 200 CGG repeats) presents with less severe symptoms compared to a full mutation (>200 repeats). The full mutation tends to be more male predominant (85%), while the premutation tends to affect females more who are carrier of this condition [1]. The premutation condition is divided into two subtypesFragile X-associated Primary Ovarian Insufficiency (FXPOI) and Fragile X-associated Tremor/ Ataxia Syndrome (FXTAS) [2]. Although both conditions manifest with psychiatric conditions, they possess unique features on presentation where FXPOI occurs in 20% of female carriers and presents with menopause before the age of 40, while FXTAS occurs in 16% of females and presents with neurological symptoms, including intention tremors, ataxic gait, autonomic dysfunction, neuropathy, and Parkinsonism [3]. Although the psychiatric disorders common to both conditions tend to be depression and/or anxiety, they can also include psychosis and memory and executive function deficits in more advanced cases [4]. Studies have shown that in FXTAS the psychiatric symptoms manifest before the neurological conditions [5]. Studies have also noted an association between the cognitive decline in carriers of this mutation and increased substance abuse that patients fail to acknowledge as abnormal [6,7]. Due to the dearth of Fragile X carrier cases in the literature, there are few observed cases that can document the extent of this condition. Herein, we present a case of female adult carrier who has uniquely displayed the spectrum of systemic manifestations since menarche.","PeriodicalId":148950,"journal":{"name":"Advancements in Case Studies","volume":"78 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123463544","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Clinical Review: Best Medical Therapy Superior to Carotid Endarterectomy in Secondary Stroke Prevention in Symptomatic Extracranial Internal Carotid Artery Stenosis of 50-69% 临床回顾:最佳药物治疗在预防症状性颅外内颈动脉狭窄患者继发性卒中方面的效果优于颈动脉内膜切除术(50-69%)

Advancements in Case Studies Pub Date : 2020-01-07 DOI: 10.31031/aics.2020.02.000536

C. Blaine

引用次数: 0

A Rare Cause of Abdominal Compartment Syndrome: Chylous Ascites in non-Hodgkin’s Lymphoma 腹腔隔室综合征的罕见病因:非霍奇金淋巴瘤的乳糜腹水

Advancements in Case Studies Pub Date : 2019-12-05 DOI: 10.31031/aics.2019.02.000535

M. Alidoost

{"title":"A Rare Cause of Abdominal Compartment Syndrome: Chylous Ascites in non-Hodgkin’s Lymphoma","authors":"M. Alidoost","doi":"10.31031/aics.2019.02.000535","DOIUrl":"https://doi.org/10.31031/aics.2019.02.000535","url":null,"abstract":"Background: Abdominal compartment syndrome (ACS) occurs in critically sick patients and is defined as intra-abdominal pressure (IAP) over 20mmHg accompanied by new-onset organ dysfunction [1]. ACS necessitates emergent therapy to decrease abdominal pressures-whether it be via surgical means, or in the case of our patient, paracentesis [1]. Case presentation: A 60-year-old male with a medical history of coronary artery disease status post coronary artery bypass graft and hypertension presented to the Emergency Department (ED) with shortness of breath of 2 days duration preceded by three weeks of increasing abdominal pain and lower extremity edema. He was found to have large ascites and extensive lymphadenopathy on computed tomography (CT) of the abdomen and pelvis. He went for emergent paracentesis and 13,500mL of chyle was removed from the peritoneum. He was eventually diagnosed with non-Hodgkin’s lymphoma (NHL) and started on chemotherapy. Unfortunately, he expired four months later due to a cardiac arrest at home. Conclusion: Although ACS caused trauma and/or bleeding, severe liver cirrhosis, ileus, fluid also IAP described a complication of chylous Here, we report the first case of ACS caused by chylous ascites in the setting of newly diagnosed NHL","PeriodicalId":148950,"journal":{"name":"Advancements in Case Studies","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130825978","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

External Jugular Vein Terminates in Cephalic Vein, an Anatomical Variation During Neck Dissection & its Clinical Impact 颈外静脉终止于头静脉，颈部解剖过程中的解剖变异及其临床影响

Advancements in Case Studies Pub Date : 2019-11-19 DOI: 10.31031/aics.2019.02.000534

Leah Fecik

引用次数: 0

Two Kind of Measles-Related Encephalitis in Pediatric Patients: A Case Report 小儿两种麻疹相关脑炎1例报告

Advancements in Case Studies Pub Date : 2019-10-17 DOI: 10.31031/AICS.2019.02.000532

Yevtushenko, S. Kramarov

引用次数: 0

Low-Grade Appendiceal Mucinous Neoplasm Presenting as a Volvulus of the Cecum: A Rare Presentation of a Rare Disease 低级别阑尾黏液性肿瘤表现为盲肠扭转:一种罕见疾病的罕见表现

Advancements in Case Studies Pub Date : 2019-09-19 DOI: 10.31031/AICS.2019.02.000530

H. Peng, T. Pau, T. Lim, Y. Eichel, N. Patel

引用次数: 1

Ethics of Case Studies Based on Human Dignity 基于人的尊严的个案研究伦理学

Advancements in Case Studies Pub Date : 2019-08-20 DOI: 10.31031/AICS.2019.02.000527

J MichaelAnjello

引用次数: 0

Combination of Spinal Anesthesia and Usg- Guided Low-Dose Bilateral Infraclavicular Block in a Patient with Difficult Airway: A Rare Case Report 脊麻联合Usg引导下低剂量双侧锁骨下阻滞治疗气道困难患者一例罕见病例报告

Advancements in Case Studies Pub Date : 2019-06-25 DOI: 10.31031/aics.2019.02.000526

H. Akelma, F. Salık, M. Bıçak, İbrahim Andan, Esra Aktiz Bıçak, A. Yıldırım

引用次数: 1

Orthodontic Treatment for Congenitally Missing Maxillary Lateral Incisors with Canine Substitution: A Case Report 犬齿替代正畸治疗先天性缺失上颌侧切牙1例

Advancements in Case Studies Pub Date : 2019-06-25 DOI: 10.31031/aics.2019.01.000525

Jui-Ann Hsu, Tzu-Hsin Lee

引用次数: 2