Journal of medical case reports and reviews最新文献

Metastatic adrenocortical carcinoma in an adult with 21-Hydroxylase deficiency 21-羟化酶缺乏的成人转移性肾上腺皮质癌

Journal of medical case reports and reviews Pub Date : 2021-01-01 DOI: 10.15761/MCRR.1000152

Christopher Briones, Michael Esantsi, Samir Asker, Jacey Jones

{"title":"Metastatic adrenocortical carcinoma in an adult with 21-Hydroxylase deficiency","authors":"Christopher Briones, Michael Esantsi, Samir Asker, Jacey Jones","doi":"10.15761/MCRR.1000152","DOIUrl":"https://doi.org/10.15761/MCRR.1000152","url":null,"abstract":"21-hydroxylase deficiency (21-HD) is a rare enzyme defect in the cortisol synthesis pathway. Left untreated, chronic elevations of adrenocorticotropic hormone induce adrenal cortex hyperplasia and may result in the formation of adrenal gland tumors. Benign myelolipomas and testicular adrenal rest tumors are commonly seen, but adrenocortical carcinomas (ACC) are extremely rare with a poor prognosis. We present the case of a 34-year old Caucasian man with untreated 21-HD, and a family history of liver, pancreatic and colon cancer, as well as 21-HD. Incidental computed tomography (CT) imaging for hip pain, and subsequent cancer work up, identified primary ACC with metastasis to the liver, lungs, bones, testicles and contralateral adrenal gland. After a precipitous decline in clinical status on the eighth day of admission, repeat CT imaging revealed worsening hepatomegaly and an interval enlarged left adrenal mass with active hemorrhage. The patient expired the following day due to rapid progression of aggressive metastatic cancer causing multi-organ failure. ACC is associated with hereditary cancer syndromes including Multiple Endocrine Neoplasia 1 (MEN-1), Lynch Syndrome, and Familial Adenomatous Polyposis (FAP). The association of MEN-1 with pancreatic cancer, and of Lynch and FAP with colon cancer, suggests the patient’s robust family history may have contributed to early tumorigenesis and rapid progression of disease in the setting of 21-HD. This case emphasizes the significance of compliance with steroid treatment in patients with 21-HD, as well as highlights the importance of early genetic testing when there is a concomitant family history of cancer.","PeriodicalId":93315,"journal":{"name":"Journal of medical case reports and reviews","volume":"5 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90741482","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

Inflammatory Fibroid Polyp causing small bowel intussusception: a case report 炎性肌瘤息肉引起小肠肠套叠1例

Journal of medical case reports and reviews Pub Date : 2021-01-01 DOI: 10.15761/mcrr.1000166

Iolanda Espirito Santo, Anne-Christine Cottier, R. Sguinzi, Ian Fournier

引用次数: 0

Intraoperative ultrasound guidance during intra-cavitary brachytherapy of cervical cancer 宫颈癌腔内近距离治疗术中超声引导

Journal of medical case reports and reviews Pub Date : 2021-01-01 DOI: 10.15761/mcrr.1000170

I. Mbarki, Samia Hajar Touimi, H. Elkacemi, Ayeb Kebdani, S. Elmajjaoui, N. Benjaafar

引用次数: 0

Cutaneous manifestations in COVID 19 patient: A case report COVID - 19患者皮肤表现1例

Journal of medical case reports and reviews Pub Date : 2021-01-01 DOI: 10.15761/mcrr.1000162

Elena Barbagelata, E. Bernero, R. Garbarini, M. Scudeletti

{"title":"Cutaneous manifestations in COVID 19 patient: A case report","authors":"Elena Barbagelata, E. Bernero, R. Garbarini, M. Scudeletti","doi":"10.15761/mcrr.1000162","DOIUrl":"https://doi.org/10.15761/mcrr.1000162","url":null,"abstract":"Coronavirus disease 2019 (COVID-19), caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), is a current, ongoing life-threatening crisis and it has become a global public health emergency. The early diagnosis and management of the disease remains a major challenge. Although most patients with COVID-19 manifest fever and respiratory tract symptoms, SARS-CoV-2 infection may also involve other organs/systems and present with extra-respiratory manifestations. Occasionally, these extra-respiratory clinical expressions represent the initial presentation of SARS-CoV-2 infection, prior to fever or respiratory manifestations. Cutaneous manifestations of COVID-19 disease have not yet been fully described. Some skin disorders in COVID-19 might result in missed diagnosis. An important question is whether the dermatological problem in COVID-19 has any clinical impact on diagnosis and treatment of disease.We describe this unusual case report of the extra-respiratory manifestations of COVID-19 in order to help clinicians to better understand the range of clinical presentations associated with SARS-CoV-2 infection, allowing appropriate management of this disease. *Correspondence to: Elena Barbagelata, department of internal Medicine, Lavagna General Hospital, Via don Bobbio 43, 16033, Genoa, Italy, E-mail: elenabarbagelata@yahoo.it","PeriodicalId":93315,"journal":{"name":"Journal of medical case reports and reviews","volume":"76 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85725658","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

Refractory chronic osteomyelitis of femur：A case report 难治性股骨慢性骨髓炎1例

Journal of medical case reports and reviews Pub Date : 2021-01-01 DOI: 10.15761/MCRR.1000153

Li Chen, H. Hou, Liren Zhang, Q. Pan

引用次数: 1

Plasmacytoma of the Thyroid 甲状腺浆细胞瘤

Journal of medical case reports and reviews Pub Date : 2021-01-01 DOI: 10.15761/mcrr.1000163

H. Kaya, T. Tecimer, Ilker Ersözlü, Serdar Giray, Mete Düren

{"title":"Plasmacytoma of the Thyroid","authors":"H. Kaya, T. Tecimer, Ilker Ersözlü, Serdar Giray, Mete Düren","doi":"10.15761/mcrr.1000163","DOIUrl":"https://doi.org/10.15761/mcrr.1000163","url":null,"abstract":"Plasmacytomas arise from plasma cells and are part of a family of plasma cell neoplasms. Extramedullary plasmacytomas are usually located in the upper respiratory tract and oral cavity. Thyroid involvement is rare and can be solitary or secondary to systemic multiple myeloma and constitutes less than 5% of all plasma cell neoplasms and 1.4% of extramedullary plasmacytomas. Fine needle aspiration biopsy may falsely predict medullary thyroid cancer or follicular neoplasm of Hurthle cells. Since plasma cells in thyroid are rare, such a finding in frozen section should raise a suspicion of plasma cell neoplasm. Here we report a case presenting with a 4 cm firm nodule in the thyroid. Fine needle aspiration biopsy was not diagnostic. Pathologic examination of the surgical specimen revealed an extramedullary plasmacytoma located in the thyroid. The association of solitary EMP of the thyroid gland with lymphocytic thyroiditis is known and 82% of patients show lymphocytic thyroiditis as was the case with our patient. Clinical outcome of patients with localized disease is favorable. 10-year overall survival rate is 70%. The disease may progress to multiple myeloma in 11-30% of patients. Surgery and/or radiotherapy are the treatment of choice for these patients. Follow-up is required for disease progression and development of multiple myeloma.","PeriodicalId":93315,"journal":{"name":"Journal of medical case reports and reviews","volume":"11 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89488268","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

Delayed presentation of bilateral diaphragmatic palsy following trauma 创伤后双侧膈肌麻痹的延迟表现

Journal of medical case reports and reviews Pub Date : 2021-01-01 DOI: 10.15761/mcrr.1000164

Aditi V. Joshi, K. Utpat, U. Desai, Ramesh N Bharmal

引用次数: 0

Case report: Earworms on the perpetual music track - biological parameters, and an evolutionary perspective of music 个案报告:永久音乐轨道上的耳虫——生物学参数，以及音乐的进化观点

Journal of medical case reports and reviews Pub Date : 2021-01-01 DOI: 10.15761/mcrr.1000171

Wolfgang M. Schleidt

引用次数: 0

Clinical and instrumental indicators of intracranial venous stasis and secondary ischemia in cerebral sinus thrombosis. A review 脑窦血栓形成颅内静脉淤积及继发性缺血的临床及仪器指标。回顾

Journal of medical case reports and reviews Pub Date : 2021-01-01 DOI: 10.15761/mcrr.1000172

Semenov Se, Yurkevich Ea, Moldavskaya Iv, Semenov As, Kokov An

引用次数: 0

Pseudomonas Oryzihabitans bacteremia in a child with sickle cell disease 镰状细胞病患儿的米氏假单胞菌菌血症

Journal of medical case reports and reviews Pub Date : 2021-01-01 DOI: 10.15761/MCRR.1000156

Abdesselam Taleb, Omar Masmali, A. A. Ageel, H. Arishi

引用次数: 0