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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
Pub Date : 2021-01-01 DOI: 10.15761/MCRR.1000152
Christopher Briones, Michael Esantsi, Samir Asker, Jacey Jones
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.
21-羟化酶缺乏症(21-HD)是皮质醇合成途径中一种罕见的酶缺陷。如果不及时治疗,促肾上腺皮质激素的慢性升高会诱发肾上腺皮质增生,并可能导致肾上腺肿瘤的形成。良性骨髓瘤和睾丸肾上腺腺瘤是常见的,但肾上腺皮质癌(ACC)极为罕见,预后差。我们报告一例34岁的白人男性,患有未经治疗的21-HD,并有肝癌,胰腺癌和结肠癌的家族史,以及21-HD。髋部疼痛的偶然计算机断层扫描(CT)成像和随后的癌症工作,确定原发性ACC转移到肝脏,肺,骨骼,睾丸和对侧肾上腺。入院第8天临床状况急转直下,复查CT显示肝肿大恶化,间隔期左肾上腺肿物增大伴活动性出血。由于恶性转移性癌症的快速进展导致多器官功能衰竭,患者于第二天死亡。ACC与遗传性癌症综合征相关,包括多发性内分泌瘤1型(men1)、Lynch综合征和家族性腺瘤性息肉病(FAP)。man -1与胰腺癌的关联,Lynch和FAP与结肠癌的关联表明,患者的家族史可能有助于21-HD患者的早期肿瘤发生和疾病的快速进展。本病例强调了21-HD患者接受类固醇治疗的重要性,同时也强调了当有癌症家族史时进行早期基因检测的重要性。
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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
Pub Date : 2021-01-01 DOI: 10.15761/mcrr.1000166
Iolanda Espirito Santo, Anne-Christine Cottier, R. Sguinzi, Ian Fournier
Inflammatory fibroid polyps (IFP), or Vanek’s tumours, are rare lesions of the gastrointestinal tract whose clinical presentation and management vary according to lesion’s size and location. We hereby present a case of an ileoileal intussusception accurately diagnosed by computer tomography. Laparotomy and small bowel resection were performed. A PDGFRA+ IFP was identified as the lead point and its rare CD117(c-kit) positivity emphasizes the histological variety of these lesions as well as the complexity thus inherent to a conclusive diagnosis. *Correspondence to: Iolanda Nazaré da Graça do Espírito Santo, Route de la Feuillère 13, 1010 Lausanne Switzerland, Tel: +41797840758; E-mail: iolandaespiritosanto@gmail.com
炎性肌瘤息肉(IFP)或Vanek肿瘤是一种罕见的胃肠道病变,其临床表现和处理因病变的大小和位置而异。我们在此报告一例通过计算机断层扫描准确诊断的回肠肠套叠。行开腹和小肠切除术。PDGFRA+ IFP被确定为先导点,其罕见的CD117(c-kit)阳性强调了这些病变的组织学多样性以及因此固有的结论性诊断的复杂性。*通信:Iolanda nazar da gra do Espírito Santo, Route de la feuill 13, 1010瑞士洛桑,电话:+41797840758;电子邮件:iolandaespiritosanto@gmail.com
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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
Pub Date : 2021-01-01 DOI: 10.15761/mcrr.1000170
I. Mbarki, Samia Hajar Touimi, H. Elkacemi, Ayeb Kebdani, S. Elmajjaoui, N. Benjaafar
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引用次数: 0
Cutaneous manifestations in COVID 19 patient: A case report COVID - 19患者皮肤表现1例
Pub Date : 2021-01-01 DOI: 10.15761/mcrr.1000162
Elena Barbagelata, E. Bernero, R. Garbarini, M. Scudeletti
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
由严重急性呼吸系统综合征冠状病毒2 (SARS-CoV-2)引起的2019冠状病毒病(COVID-19)是当前持续存在的危及生命的危机,已成为全球突发公共卫生事件。该疾病的早期诊断和管理仍然是一项重大挑战。虽然大多数COVID-19患者表现为发烧和呼吸道症状,但SARS-CoV-2感染也可能涉及其他器官/系统,并出现呼吸外症状。有时,这些呼吸外临床表现代表了SARS-CoV-2感染的初始表现,先于发烧或呼吸道表现。COVID-19疾病的皮肤表现尚未得到充分描述。COVID-19中的一些皮肤疾病可能导致漏诊。一个重要的问题是,COVID-19的皮肤病问题是否对疾病的诊断和治疗有任何临床影响。我们描述了这一不寻常的COVID-19呼吸外表现病例报告,以帮助临床医生更好地了解与SARS-CoV-2感染相关的临床表现范围,从而对这种疾病进行适当的管理。*通信:Elena Barbagelata,意大利热那亚,Via don Bobbio 43, 16033, Lavagna总医院内科,E-mail: elenabarbagelata@yahoo.it
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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
Pub Date : 2021-01-01 DOI: 10.15761/MCRR.1000153
Li Chen, H. Hou, Liren Zhang, Q. Pan
Purpose: The purpose of this paper is to introduce a case of refractory chronic osteomyelitis of the femoral shaft. Case Report: A 51 year old male suffered from chronic osteomyelitis of the femoral shaft for about 40 years. In the first stage, thorough debridement, extensive lesion resection, antibiotic bone cement spacer and external fixator were applied; in the second stage, the external fixator and bone cement column were changed to femoral bone marrow internal nail combined with femoral locking plate and autologous bone implantation at the broken end under the premise of complete control of inflammation and good health. Finally, the patient was cured and very satisfied with the current state. Conclusion: We report a case of refractory chronic osteomyelitis, which is very rare to have a long history of disease, a large number of fractures, and deformity degree of lower limbs. *Correspondence to: Li Chen, Department of orthopedics, Suzhou Hospital of Anhui Medical University (Suzhou Municipal Hospital of Anhui Province), 299 Bianhe Middle Road, Yongqiao District, Suzhou City, Anhui Province, China, E-mail: 524985750@qq. com
目的:报告一例难治性股骨干慢性骨髓炎。病例报告:一位51岁男性患慢性股骨干骨髓炎约40年。一期彻底清创,广泛切除病变,应用抗生素骨水泥间隔器及外固定架;第二阶段,在炎症完全控制、身体健康的前提下,将外固定架和骨水泥柱改为股骨骨髓内钉联合股骨锁定钢板,骨折端自体植骨。最后,病人痊愈了,对目前的状态非常满意。结论:我们报告一例难治性慢性骨髓炎患者,其发病历史长,骨折数量多,下肢畸形程度高,实属罕见。*通信对象:李晨,安徽医科大学苏州医院(安徽省苏州市立医院)骨科,中国安徽省苏州市永桥区汴河中路299号,E-mail: 524985750@qqcom
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引用次数: 1
Plasmacytoma of the Thyroid 甲状腺浆细胞瘤
Pub Date : 2021-01-01 DOI: 10.15761/mcrr.1000163
H. Kaya, T. Tecimer, Ilker Ersözlü, Serdar Giray, Mete Düren
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.
浆细胞瘤起源于浆细胞,是浆细胞肿瘤家族的一员。髓外浆细胞瘤通常位于上呼吸道和口腔。甲状腺受累是罕见的,可能是孤立的或继发于全身性多发性骨髓瘤,占所有浆细胞瘤的不到5%和髓外浆细胞瘤的1.4%。细针穿刺活检可能错误地预测甲状腺髓样癌或Hurthle细胞滤泡性肿瘤。由于甲状腺浆细胞很少见,冰冻切片的发现应引起浆细胞肿瘤的怀疑。这里我们报告一个病例,在甲状腺有一个4厘米的坚固结节。细针穿刺活检不能诊断。手术标本的病理检查显示一个位于甲状腺的髓外浆细胞瘤。甲状腺孤立性EMP与淋巴细胞性甲状腺炎的关系是已知的,82%的患者表现为淋巴细胞性甲状腺炎,正如我们的病例。局限性疾病患者的临床预后良好。10年总生存率为70%。11-30%的患者可发展为多发性骨髓瘤。手术和/或放射治疗是这些患者的治疗选择。多发性骨髓瘤的病情进展和发展需要随访。
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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
Pub Date : 2021-01-01 DOI: 10.15761/mcrr.1000164
Aditi V. Joshi, K. Utpat, U. Desai, Ramesh N Bharmal
The diaphragm is the main respiratory muscle, its dysfunction can lead to serious consequences. Diaphragm paralysis can be a result of various causes, most common of being injury to phrenic nerve following thoracic surgeries. Presentation can vary from a totally asymptomatic patient to disabling condition requiring mechanical ventilation. Clinically paradoxical breathing is evident. Spirometry shows drop in lung capacity, with significant decline in supine position, which is typical of diaphragmatic palsy. Treatment depends on the cause. Surgical approach of repair of diaphragm or nonsurgical approach of non-invasive ventilation has been successful. We report a case of 33-year-old male with bilateral diaphragm palsy, managed with non-invasive ventilation.
横膈膜是主要的呼吸肌,它的功能障碍会导致严重的后果。膈肌麻痹有多种原因,最常见的是胸外科手术后膈神经损伤。表现可以从完全无症状的患者到需要机械通气的致残状况。临床矛盾呼吸是明显的。肺活量测定显示肺活量下降,仰卧位明显下降,这是典型的膈肌麻痹。治疗取决于病因。手术入路修复膈肌或非手术入路无创通气已取得成功。我们报告一例33岁男性双侧横膈膜麻痹,管理与无创通气。
{"title":"Delayed presentation of bilateral diaphragmatic palsy following trauma","authors":"Aditi V. Joshi, K. Utpat, U. Desai, Ramesh N Bharmal","doi":"10.15761/mcrr.1000164","DOIUrl":"https://doi.org/10.15761/mcrr.1000164","url":null,"abstract":"The diaphragm is the main respiratory muscle, its dysfunction can lead to serious consequences. Diaphragm paralysis can be a result of various causes, most common of being injury to phrenic nerve following thoracic surgeries. Presentation can vary from a totally asymptomatic patient to disabling condition requiring mechanical ventilation. Clinically paradoxical breathing is evident. Spirometry shows drop in lung capacity, with significant decline in supine position, which is typical of diaphragmatic palsy. Treatment depends on the cause. Surgical approach of repair of diaphragm or nonsurgical approach of non-invasive ventilation has been successful. We report a case of 33-year-old male with bilateral diaphragm palsy, managed with non-invasive ventilation.","PeriodicalId":93315,"journal":{"name":"Journal of medical case reports and reviews","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91060608","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
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
Pub Date : 2021-01-01 DOI: 10.15761/mcrr.1000171
Wolfgang M. Schleidt
{"title":"Case report: Earworms on the perpetual music track - biological parameters, and an evolutionary perspective of music","authors":"Wolfgang M. Schleidt","doi":"10.15761/mcrr.1000171","DOIUrl":"https://doi.org/10.15761/mcrr.1000171","url":null,"abstract":"","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":"89946395","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 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
Pub Date : 2021-01-01 DOI: 10.15761/mcrr.1000172
Semenov Se, Yurkevich Ea, Moldavskaya Iv, Semenov As, Kokov An
{"title":"Clinical and instrumental indicators of intracranial venous stasis and secondary ischemia in cerebral sinus thrombosis. A review","authors":"Semenov Se, Yurkevich Ea, Moldavskaya Iv, Semenov As, Kokov An","doi":"10.15761/mcrr.1000172","DOIUrl":"https://doi.org/10.15761/mcrr.1000172","url":null,"abstract":"","PeriodicalId":93315,"journal":{"name":"Journal of medical case reports and reviews","volume":"13 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76675368","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
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
Pub Date : 2021-01-01 DOI: 10.15761/MCRR.1000156
Abdesselam Taleb, Omar Masmali, A. A. Ageel, H. Arishi
After one day of hospitalization, the pain improved on the right hip joint and started in the left hip side which radiated to the left knee with limitation of movement. Past history revealed twice blood transfusions; the last one was 3 months before the current admission. Physical examination revealed a child who was in pain, score of 8 (Wong Baker pain scale, range 0-10 with 10, it hurts and worst), conscious, alert, with no pallor or jaundice. The chest and heart examination was within normal. There was no organomegaly. His body weight was 26 kilograms, above the 10th percentile; his height 130 centimeters on the 10th percentile; his temperature 36.7°C.
住院1天后,右髋关节疼痛改善,从左髋关节开始,并向左膝放射,活动受限。既往史两次输血;最后一次是在本次入学前3个月。体格检查显示,该儿童疼痛,得分为8分(Wong Baker疼痛量表,0-10分,10分表示疼痛,最严重),意识清醒,警觉,无苍白或黄疸。胸部和心脏检查正常。没有器官肿大。他的体重是26公斤,超过10%;他的身高是130厘米,在第10百分位;他的体温是36.7°C。
{"title":"Pseudomonas Oryzihabitans bacteremia in a child with sickle cell disease","authors":"Abdesselam Taleb, Omar Masmali, A. A. Ageel, H. Arishi","doi":"10.15761/MCRR.1000156","DOIUrl":"https://doi.org/10.15761/MCRR.1000156","url":null,"abstract":"After one day of hospitalization, the pain improved on the right hip joint and started in the left hip side which radiated to the left knee with limitation of movement. Past history revealed twice blood transfusions; the last one was 3 months before the current admission. Physical examination revealed a child who was in pain, score of 8 (Wong Baker pain scale, range 0-10 with 10, it hurts and worst), conscious, alert, with no pallor or jaundice. The chest and heart examination was within normal. There was no organomegaly. His body weight was 26 kilograms, above the 10th percentile; his height 130 centimeters on the 10th percentile; his temperature 36.7°C.","PeriodicalId":93315,"journal":{"name":"Journal of medical case reports and reviews","volume":"64 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79640095","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
期刊
Journal of medical case reports and reviews
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