OpenMed/multicare-articles huggingface dataset:
Invasive sarcomatoid mesothelioma resulting in spinal cord compression: case report
Authors: Matthew Farthing, Thurkaa Shanmugalingam, Elizabeth Alice Dean, Dakshinamoorthy Muthukumar
Journal: BJR Case Rep (2017)
MeSH terms: Case Reports

Mesothelioma is more likely to metastasize by local invasion, and metastases to the nervous system are rare. There are currently 10 reported cases of spinal cord compression as a result of mesothelioma. We report a 74-year-old patient with sarcomatoid mesothelioma that spreads across the dura into the spinal cord at T4/T5 level. This case report illustrates an unusual presentation of spinal cord compression by mesothelioma. It details the presenting symptoms, examinations and management of the patient and provides an overview of other potential metastatic sites of mesothelioma.
A rare case of for synchronous advanced cancer of ascending colon and urinary bladder with simultaneous laparoscopic resection: A case report
Authors: Toru Imagami, Satoru Takayama, Satoshi Kurokawa, Taku Hattori, Ryohei Matsui, Masaki Sakamoto, Hisanori Kani, Tsuyoshi Fujiwara
Journal: Int J Surg Case Rep (2018)
Keywords: multiple primary malignant tumors, simultaneous laparoscopic resection, synchronous colorectal and bladder cancer

Introduction:
Advances in diagnostic techniques have resulted in an increase in the diagnosis of numerous patients with multiple primary cancers. However, the diagnosis of synchronous primary colorectal cancer and bladder cancer remains rare.
Presentation of case:
A 69-year-old man diagnosed with synchronous advanced cancer of the ascending colon and urinary bladder underwent simultaneous laparoscopic resection. His postoperative course was similar to that of routine colorectal cancer. The patient refused adjuvant therapy. The patient was diagnosed as having recurrence of bladder cancer 3 months after surgery; he died 9 months after surgery.
Discussion:
For multiple primary malignant tumors, simultaneous tumor resection is preferred. Simultaneous laparoscopic resection may be proposed for postoperative multidisciplinary treatment. If an established regimen is determined in the future, neoadjuvant chemotherapy may be an option for the treatment of synchronous advanced cancer.
Conclusion:
Simultaneous laparoscopic surgery is a greatly beneficial approach for synchronous cancer requiring multidisciplinary treatment. Additionally, an appropriate support system for patients is indispensable for completing multidisciplinary treatment.
Florid cementoosseous dysplasia: a rare case report
Authors: Mehmet Fatih Sentürk, Recep Kestane, Elif Naz Yakar, Ahmet Keskin
Journal: Case Rep Dent (2013)

Florid cementoosseous dysplasia (FCOD) is a rare, benign, fibroosseous, and multifocal dysplastic lesion of the jaw that consists of cellular fibrous connective tissue with bone and cementum-like tissue. FCOD is most commonly found in middle-aged black women, is generally asymptomatic, and is usually detected during radiological examination. FCOD associated with multiple impacted teeth and bone expansion is a very rare phenomenon, and there are only a few familial cases reported in the literature. In this report, a 35-year-old male Turkish patient is presented who was diagnosed with nonfamilial FCOD from clinical, radiological, and histopathological findings. To our knowledge this is the first case of the nonfamilial FCOD with this many impacted teeth and severely expanded bones.
Mechanical Thrombectomy for Acute Ischemic Stroke in Patients With Cardiac Myxoma: A Case Series and Pooled Analysis
Authors: Jie Rao, Zi Tao, Qiongqiong Bao, Mengbei Xu, Mingxia Jiang, Xiongpeng Weng, Bo Yin, Dandong Li, Yan Li, Xueli Cai, Fangwang Fu
Journal: Front Neurol (2022)
Keywords: endovascular therapy, intravenous thrombolysis, large vessel occlusion, myxoma, stroke, thrombectomy

Background and purpose:
Acute ischemic stroke (AIS) is a common and life-threatening complication of patients with cardiac myxoma (CM). The role of the mechanical thrombectomy (MT) technique in CM-AIS patients remains unclear, and no guidelines exist for this population. Therefore, we conducted a case series study of MT in CM-AIS patients to investigate its safety and efficacy via a pooled analysis of published literature.
Methods:
Eleven CM-AIS patients who underwent MT between 2016 and 2021 were screened from multicenter stroke databases. Clinical, procedural, and outcome data were obtained from medical records. A systematic review was conducted to identify additional cases from published studies by searching PubMed and China National Knowledge Infrastructure databases. We then performed a pooled analysis of the published cases.
Results:
In the case series study, most patients were male (81.8%), with a median age of 51 years. All patients had CM located in the left atrium. The rate of successful reperfusion using the first-line thrombectomy technique was 100% with stent retriever (SR) and 66.7% with direct aspiration (DA), which resulted in overall successful reperfusion in 94.1% of all occlusions. The retrieved emboli of the five patients who underwent histopathology examination were identified as myxoma components. Hemorrhagic transformation was observed in five (45.5%) patients, of whom one was symptomatic (9.1%). Three-month favorable functional outcomes were achieved in five (45.5%) patients with a 3-month mortality rate of 18.2%. For the literature review, 35 cases with 51 target vessel occlusions were identified and included in the pooled analysis. The rate of successful reperfusion following first-line thrombectomy did not differ between SR (30 patients, 90.9%) and DA (10 patients, 83.3%). The overall successful reperfusion rate was 91.8% of all occlusions. Three-month favorable functional outcomes were achieved in 21 (60.0%) patients, and the mortality rate was 8.6%.
Conclusions:
Our findings suggest that MT is not only an effective technique but also a safe option for CM-AIS patients with large vessel occlusion. MT has several advantages for this population, which include a high recanalization rate, low bleeding risk, and the ability to evaluate the source of emboli and the etiology of stroke.
Large cell neuroendocrine carcinoma of the nasal cavity: an extremely rare and new distinct entity
Authors: Jawad Lahma, Reda Hejjouji, Philippe Gicquel, Leila Essakalli
Journal: Pan Afr Med J (2018)
Keywords: large cell neuroendocrine carcinoma, endoscopic endonasal surgery, nasal cavity
MeSH terms: Carcinoma, Large Cell / diagnosis, Carcinoma, Neuroendocrine / diagnosis, Nasal Cavity / pathology, Nose Neoplasms / diagnosis, Case Reports, Aged, Carcinoma, Large Cell / pathology, Carcinoma, Large Cell / therapy, Carcinoma, Neuroendocrine / pathology, Carcinoma, Neuroendocrine / therapy, Chemoradiotherapy, Adjuvant / methods, Endoscopy / methods, Humans, Male, Nasal Obstruction / etiology, Nose Neoplasms / pathology, Nose Neoplasms / therapy

Large cell neuroendocrine carcinoma (LCNEC) is a rare but distinct entity of nasal cavity carcinomas. Only a very few cases have been reported in the nasal cavity. Its treatment is not well established. We report the case of a LCNEC in a 70 years old patient who presented with right nasal obstruction and epistaxis since 2 months. Diagnosis was confirmed by histological and immunohistochemical study. The patient underwent complete endoscopic removal of the tumor combined to adjuvant chemoradiotherapy. After 6 month follow-up, the patient was in complete clinical and radiological remission. We will discuss in this paper the various epidemiology, clinical features, pathological findings, differential diagnosis, and evolution of treatment of this uncommon malignancy in the light of current knowledge. Optimal treatment strategies are yet to be determined for this rare malignancy with poor prognosis including surgery and chemoradiotherapy.
Diagnostic Dilemma in Two Cases of Hyperandrogenism
Authors: Ibrahim Alali, Lilianne Haj Hassan, Ghadeer Mardini, Nermeen Hijazi, Lama Hadid, Younes Kabalan
Journal: Case Rep Endocrinol (2018)
MeSH terms: Case Reports

Hirsutism is a common endocrine complaint affecting about 10 percent of women. It may be caused by multiple etiologies including adrenal and ovarian disorders. Usually, it is a result of a benign entity such as PCOs and idiopathic hirsutism. However, sometimes especially when it is severe and rapid in progression an androgen-secreting tumor should be excluded. Sertoli-Leydig cell tumors constitute fewer than 0.5 percent of ovarian tumors and it may be benign or malignant. In this article, we present two cases of hyperandrogenism caused by occult ovarian Leydig cell tumors. one of them was confounded by the presence of coincidental bilateral adrenal nodules that complicated the diagnostic process. Tumor dissection was curative in both cases and the diagnosis was confirmed by pathological and hormonal testing after surgery.
Small colony variants of Staphylococcus aureus and pacemaker-related infection
Authors: Harald Seifert, Hilmar Wisplinghoff, Petra Schnabel, Christof von Eiff
Journal: Emerg Infect Dis (2003)
MeSH terms: Bacteremia / etiology, Pacemaker, Artificial / adverse effects, Staphylococcal Infections / etiology, Staphylococcus aureus / isolation & purification, Case Reports, Anti-Bacterial Agents / therapeutic use, Bacteremia / drug therapy, Bacteremia / microbiology, Genetic Variation, Humans, Male, Middle Aged, Recurrence, Staphylococcal Infections / drug therapy, Staphylococcal Infections / microbiology, Staphylococcus aureus / genetics, Staphylococcus aureus / growth & development, Anti-Bacterial Agents

We describe the first known case of a device-related bloodstream infection caused by Staphylococcus aureus small colony variants. Recurrent pacemaker-related bloodstream infection within a 7-month period illustrates the poor clinical and microbiologic response to prolonged antimicrobial therapy in a patient infected with this S. aureus subpopulation.
Evolution of Choroidal Neovascularization due to Presumed Ocular Histoplasmosis Syndrome on Multimodal Imaging including Optical Coherence Tomography Angiography
Authors: T Y Alvin Liu, Alice Yang Zhang, Adam Wenick
Journal: Case Rep Ophthalmol Med (2018)
MeSH terms: Case Reports

A 37-year-old Caucasian woman presented with acute decrease in central vision in her right eye and was found to have subfoveal choroidal neovascularization (CNV) due to presumed ocular histoplasmosis syndrome (POHS). Her visual acuity improved from 20/70 to 20/20 at her 6-month follow-up, after 3 consecutive monthly intravitreal bevacizumab injections were initiated at her first visit. Although no CNV activity was seen on fluorescein angiography (FA) or spectral-domain optical coherence tomography (SD-OCT) at her 2-month, 4-month, and 6-month follow-up visits, persistent flow in the CNV lesion was detected on optical coherence tomography angiography (OCTA). OCTA shows persistent vascular flow as well as changes in vascular flow in CNV lesions associated with POHS, indicating the continued presence of patent vessels and changes in these CNV lesions, even when traditional imaging of the lesion with OCT and FA indicates stability of the lesion with no disease activity. Additional cases with longitudinal follow-up are needed to assess how OCTA should be incorporated into clinical practice.
Angiomyxoma of the ureter imitating an upper tract urothelial carcinoma: A case report
Authors: Ahmed S Zugail, Faris Baowaidan, Eva-Maria Comperat, Bertrand Guillonneau, Alexandre Colau
Journal: Int J Surg Case Rep (2018)
Keywords: aggressive angiomyxoma, angiomyxoma, case report, haematuria, myxoid tumour, ureter

Introduction:
Angiomyxomas are rare benign neoplasms of mesenchymal origin arising from the soft tissues of the perineum and pelvis.
Case presentation:
To our knowledge, we report the first case of ureteral angiomyxoma arising de novo in a fifty-four-year-old female patient who presented with macroscopic hematuria.
Discussion:
The pathological findings, radiological features and operative management will be discussed.
Conclusion:
Angiomyxomas are notorious for their locally infiltrative nature and their propensity to recur. Clinical suspicion is capital to reach the diagnosis and a holistic care is key to a good outcome.
Complete Resection of a Large Mediastinal Calcifying Fibrous Tumor
Authors: Géraldine L P Bono, Markus Lehner, Freimut H Schilling, Nikolai Stahr, Miriam Nowack, Philipp O Szavay
Journal: European J Pediatr Surg Rep (2020)
Keywords: calcifying fibrous tumor, pediatric tumor surgery, pericardial resection
MeSH terms: Case Reports

Calcifying fibrous tumor (CFT) is a benign tumor entity which can present in a variety of different sites. Till date, eight cases with a mediastinal manifestation have been published in literature. Surgical removal is the treatment of choice for this often incidentally detected tumor. Surgery of thoracic CFT may be challenging due to its localization within the mediastinum. A 10-year old boy with a right-sided thoracic pectus carinatum-like deformity was referred for further evaluation, incidentally, revealing a mediastinal mass in computed tomography (CT). Laboratory results were all within normal range. Magnetic resonance imaging (MRI) showed a large tumor in the upper anterior mediastinum suggesting expansive but not infiltrative character. The tumor was displacing surrounding structures like the heart and the diaphragm. Lower venous stasis with dilation of the inferior cava vein could be demonstrated. The tumor was considered to be of benign dignity and surgical removal was indicated. Complete tumor resection could be achieved through a sternotomy approach, along with thymectomy. A partial resection of both the pericardium and diaphragm was required due to adhesion with soft tissue at those sites. The specimen's size was 320 mm × 145 mm × 100 mm, histologically confirmed as CFT. The patient showed no residual tumor at 3- and 9-month follow-up. This case is a report on a large mediastinal CFT which underwent successful complete surgical removal. Following tumor resection, prognosis is considered to be good; however, key issue is complete resection to avoid local tumor recurrence.
Remdesivir-Associated Acute Liver Failure in a COVID-19 Patient: A Case Report and Literature Review
Authors: Mohammad A Ahmed-Khan, George Matar, Kyle Coombes, Kayvon Moin, Bishoy M Joseph, Carly M Funk
Journal: Cureus (2023)
Keywords: acute liver failure (alf), covid-19, drug-induced liver injury (dili), hepatology, pulmonology, remdesivir
MeSH terms: Case Reports

There is a broad classification of the causes of acute liver failure (ALF) that include drug-induced liver injury (DILI). In this report, we aim to discuss the association between remdesivir, a novel therapeutic drug for hypoxic coronavirus disease 2019 (COVID-19) pneumonia, and DILI with subsequent ALF in a patient who was recently treated with the drug in question. Remdesivir, which is a direct-acting nucleoside RNA polymerase inhibitor, is one of the only FDA-approved drugs on the market for COVID-19 pneumonia associated with hypoxia. Our case describes a patient with an extensive past medical history who was treated for COVID-19 pneumonia with remdesivir and subsequently developed ALF in the absence of all other possible etiologies. This association has only been highlighted in anecdotal case reports in the past and to a lesser degree in the safety documentation of remdesivir.
Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?
Authors: Idoia Martínez de LaPiscina, Laura C Hernández-Ramírez, Nancy Portillo, Ana L Gómez-Gila, Inés Urrutia, Rosa Martínez-Salazar, Alejandro García-Castaño, Aníbal Aguayo, Itxaso Rica, Sonia Gaztambide, Fabio R Faucz, Margaret F Keil, Maya B Lodish, Martha Quezado, Nathan Pankratz, Prashant Chittiboina, John Lane, Denise M Kay, James L Mills, Luis Castaño, Constantine A Stratakis
Journal: Front Endocrinol (Lausanne) (2020)
Keywords: cushing's disease, dicer1, corticotropinoma, disease-modifying gene, pituitary neuroendocrine tumor
MeSH terms: DEAD-box RNA Helicases / genetics, Genetic Testing / methods, Germ-Line Mutation, Pituitary ACTH Hypersecretion / diagnosis, Ribonuclease III / genetics, Case Reports, Research Support, N.I.H., Intramural, Research Support, Non-U.S. Gov't, Adolescent, Adult, Child, Cohort Studies, Female, Humans, Male, Pituitary ACTH Hypersecretion / genetics, Young Adult, DICER1 protein, human, Ribonuclease III, DEAD-box RNA Helicases

Context: The DICER1 syndrome is a multiple neoplasia disorder caused by germline mutations in the DICER1 gene. In DICER1 patients, aggressive congenital pituitary tumors lead to neonatal Cushing's disease (CD). The role of DICER1 in other corticotropinomas, however, remains unknown. Objective: To perform a comprehensive screening for DICER1 variants in a large cohort of CD patients, and to analyze their possible contribution to the phenotype. Design, setting, patients, and interventions: We included 192 CD cases: ten young-onset (age <30 years at diagnosis) patients were studied using a next generation sequencing panel, and 182 patients (170 pediatric and 12 adults) were screened via whole-exome sequencing. In seven cases, tumor samples were analyzed by Sanger sequencing. Results: Rare germline DICER1 variants were found in seven pediatric patients with no other known disease-associated germline defects or somatic DICER1 second hits. By immunohistochemistry, DICER1 showed nuclear localization in 5/6 patients. Variant transmission from one of the parents was confirmed in 5/7 cases. One patient had a multinodular goiter; another had a family history of melanoma; no other patients had a history of neoplasms. Conclusions: Our findings suggest that DICER1 gene variants may contribute to the pathogenesis of non-syndromic corticotropinomas. Clarifying whether DICER1 loss-of-function is disease-causative or a mere disease-modifier in this setting, requires further studies. Clinical trial registration: ClinicalTrials.gov: NCT00001595.
Standardized Digital Colposcopy with Dynamic Spectral Imaging for Conservative Patient Management
Authors: Angelika Kaufmann, Christina Founta, Emmanouil Papagiannakis, Raj Naik, Ann Fisher
Journal: Case Rep Obstet Gynecol (2017)
MeSH terms: Case Reports

Background:
Colposcopy is subjective and management of young patients with high-grade disease is challenging, as treatments may impair subsequent pregnancies and adversely affect obstetric outcomes. Conservative management of selected patients is becoming more popular amongst clinicians; however it requires accurate assessment and documentation. Novel adjunctive technologies for colposcopy could improve patient care and help individualize management decisions by introducing standardization, increasing sensitivity, and improving documentation.
Case:
A nulliparous 27-year-old woman planning pregnancy underwent colposcopy following high-grade cytology. The colposcopic impression was of low-grade changes, whilst the Dynamic Spectral Imaging (DSI) map of the cervix suggested potential high-grade. A DSI-directed biopsy confirmed CIN2. At follow-up, both colposcopy and DSI were suggestive of low-grade disease only, and image comparison confirmed the absence of previously present acetowhite epithelium areas. Histology of the transformation zone following excisional treatment, as per patient's choice, showed no high-grade changes.
Conclusion:
Digital colposcopy with DSI mapping helps standardize colposcopic examinations, increase diagnostic accuracy, and monitor cervical changes over time, improving patient care. When used for longitudinal tracking of disease and when it confirms a negative colposcopy, it can help towards avoiding overtreatment and hence decrease morbidity related to cervical excision.
Case Report: Guitarist's cramp as the initial manifestation of dopa-responsive dystonia with a novel heterozygous GCH1 mutation
Authors: Takafumi Hasegawa, Tatsuhiko Hosaka, Ryuhei Harada, Ichiro Kawahata, Kyoko Hoshino, Naoto Sugeno, Akio Kikuchi, Masashi Aoki
Journal: F1000Res (2021)
Keywords: dyt5a, gch1, guitarist’s cramp, segawa syndrome, dopa-responsive, dopamine, dystonia, task-specific
MeSH terms: Dystonic Disorders / drug therapy, Dystonic Disorders / genetics, Muscle Cramp, Case Reports, Research Support, Non-U.S. Gov't, Adult, Humans, Male, Mutation, Pedigree, Dystonia, Dopa-responsive

Dopa-responsive dystonia (DRD), also known as Segawa syndrome, is a phenotypically and genetically heterogeneous group of neurological disorders that typically presents as early-onset lower limb dystonia with diurnal fluctuation, and exhibits a marked, persistent response to levodopa. Heterozygous loss-of-function mutations in the guanosine triphosphate cyclohydrolase 1 (GCH1) are the most common cause of DRD. In addition to the classic form of the disease, there have been a number of studies addressing atypical clinical features of GCH1 related DRD with variable age of onset. This report describes a 37-year-old Japanese male patient with a 10-year history of focal upper limb dystonia that initially emerged as task-specific, guitarist's cramp. The dystonic symptoms responded very well to levodopa treatment, and genetic analysis identified a novel heterozygous mutation in the C-terminal catalytic domain of GCH1. Insufficient recognition of this treatable condition often leads to misdiagnosis, which causes delays in the patient receiving adequate dopamine replenishing therapy. A diagnostic trial with levodopa should be considered in all patients with relatively young-onset dystonia, whether they have classic features of DRD or not.
Refractory Vasoplegic Syndrome in an Adult Patient with Infective Endocarditis: A Case Report and Literature Review
Authors: Seyed Mohsen Mirhosseini, Ali Sanjari Moghaddam, Paritash Tahmaseb Pour, Ali Dabbagh
Journal: J Tehran Heart Cent (2017)
Keywords: endocarditis, syndrome, vasopressins
MeSH terms: Case Reports

Postoperative vasoplegic syndrome (VS) is characterized by low systemic vascular resistance, normal or elevated cardiac output, and poor response to volume expansion. The incidence of VS after cardiac surgery requiring cardiopulmonary bypass is about 20%. Sometimes, VS becomes refractory and initial treatments do not work, rendering treatment a great challenge. In this study, we describe a young male patient with endocarditis undergoing tricuspid valve replacement. When being weaned off cardiopulmonary bypass, the patient experienced VS. The patient's blood pressure did not increase after the administration of a high dose of epinephrine and norepinephrine. Therefore, he was commenced on a low dose of vasopressin and gradually his blood pressure reached the normal range. Although the standard management of VS is a high dose of vasopressors, this patient was refractory to a combination of epinephrine and norepinephrine; only a vasopressin infusion was able to treat the patient. Eventually, he was weaned from bypass and the operation was terminated satisfactorily. Thereafter, the patient passed the recovery period in the cardiac intensive care unit and was discharged. It seems that vasopressin is an excellent option in refractory vasoplegia with minimal response to other vasopressors.