OpenMed/multicare-articles huggingface dataset:
Case report: BRAF-inhibitor therapy in BRAF-mutated primary CNS tumours including one case of BRAF-mutated Rosai-Dorfman disease
Authors: Christopher Cronin, Ronan McLaughlin, Louise Lane, Francesca M Brett, Michael Jansen, Niamh Bermingham, Gerald Wyse, Liam Grogan, Patrick G Morris, Seamus O'Reilly
Journal: Front Med (Lausanne) (2022)
Keywords: braf, braf-inhibitor, cns tumors, rosai-dorfman disease, brain tumor, ganglioglioma, glioma
MeSH terms: Case Reports

BRAF V600E oncogene mutations have been reported in multiple central nervous system (CNS) tumor types, and emerging evidence supports the use of targeted therapy in BRAF-mutated gliomas. BRAF oncogene mutations have been recently identified in Rosai-Dorfman disease (RDD)-a rare non-Langerhans cell histiocytosis. This series describes three patients from two neurosurgical centers in Ireland with BRAF V600E-mutated CNS tumors. The study participants include a 19-year-old male patient with ganglioglioma with anaplastic features, a 21-year-old male patient with CNS involvement of RDD, and a 28-year-old female patient with ganglioglioma with anaplastic features. Two patients received radiation with concurrent temozolomide before BRAF-targeted therapy. This case series describes clinical and radiological responses to BRAF-targeted therapy in BRAF V600E-mutated gliomas across multiple tumor grades and is only the second published report of response to targeted therapy in BRAF-mutated RDD. The durability of disease control with BRAF-targeted therapy was generally superior to that achieved with chemoradiation; one patient has experienced ongoing disease control for 5 years. The reported case of treatment response in BRAF-mutated RDD supports the strategy of genotyping and utilization of targeted therapy in this rare disease. The optimal sequencing of BRAF-targeted therapy in BRAF-mutated gliomas/glioneuronal tumors remains unclear, and further prospective studies are required to guide the use of genome-matched therapy in this patient population.
Renal Cell Carcinoma Metastasizing to Left Atrium With Coronary Sinus Invasion: A Rare Site of Metastasis Mimicking Myxoma
Authors: Gerard Nkengurutse, Qi Wang, Feng Tian, Sixiong Jiang, Liang Zhang, Weibing Sun
Journal: Front Oncol (2019)
Keywords: rcc, coronary sinus, left atrium, metastasis, myxoma, renal cell carcinoma
MeSH terms: Case Reports

Renal cell carcinoma (RCC) metastasizing to the heart with inferior vena cava (IVC) involvement is well-documented. However, its metastasis to the right heart without venous involvement is very rare. To the left atrium, metastasis is even rarer with only a few cases reported in medical literature. Herein, we report a case of a 56-year-old man who presented to our department for the treatment of a right renal mass and a right adrenal mass discovered on a follow-up plain computed tomography (CT) 13 years after left laparoscopic radical nephrectomy. During the workup, a transthoracic echocardiography (TTE) revealed a left atrial mass with a suspicion of a myxoma. This finding prompted a cardiac surgery consult which proposed a surgical removal of the mass. Intraoperatively, the tumor was found to invade the coronary sinus as well. The entire tumor was successfully removed and surgical repair of the unroofed coronary sinus was performed. Pathological examination of the tumor along with immunohistochemistry-showing positivity for CAIX, CD10, Vimentin, and PAX-8-pointed to a diagnosis of metastatic clear cell RCC. Eight months postoperatively, he was free of any symptom. In conclusion, RCC metastasizing to the left atrium is extremely rare. A comprehensive search revealed only nine reports in the literature. We report, to our knowledge, the first case of RCC metastasizing to the left atrium with concomitant invasion of coronary sinus. Surgical resection combined with unroofed coronary sinus repair allowed a complete removal of the tumor. In patients with a history of RCC, a metastasis should be thought of when a left atrial mass is present.
Tailgut Cyst and Perineal Hydatid Cyst: A Case Report with Multimodality Imaging Findings
Authors: Ibtisam Musallam Aljohani, Khalefa Ali Alghofaily, Sebastian R McWilliams, Mnahi Bin Saeedan
Journal: Case Rep Radiol (2016)

A tailgut cyst is a rare developmental lesion and usually is located in the retrorectal or presacral space. Extrahepatic hydatid disease has been reported in several locations including the pelvis and it often poses a diagnostic challenge. There are very few reported cases of primary perineal hydatid cysts. We present the multimodality imaging findings of a tailgut cyst and concurrent perineal hydatid disease in a 32-year-old male patient.
Single-incision video-assisted thoracic resection for extrapulmonary sequestration: a case report
Authors: Masaya Tamura, Yosuke Shimizu, Yasuo Hashizume
Journal: J Cardiothorac Surg (2014)
MeSH terms: Bronchopulmonary Sequestration / surgery, Pneumonectomy / methods, Thoracic Surgery, Video-Assisted / methods, Case Reports, Bronchopulmonary Sequestration / diagnostic imaging, Female, Follow-Up Studies, Humans, Middle Aged, Tomography, X-Ray Computed

We describe surgical resection of an extralobar pulmonary sequestration via single-incision thoracoscopic surgery (SITS), which we recommend as a suitable surgical option. A 45-year-old Japanese woman was admitted to our hospital for further examination of chest abnormal shadow. A rigid 5-mm 30° video-thoracoscope, an endograsper and an electric cautery were passed within the same single small incision. The tumor was suspended using articulating endograspers and resected after clipping and ligation of the anomalous vessel. The final pathology was determined an extrapulmonary sequestration.
Anti-MDA5 Antibody Linking COVID-19, Type I Interferon, and Autoimmunity: A Case Report and Systematic Literature Review
Authors: Antonio Tonutti, Francesca Motta, Angela Ceribelli, Natasa Isailovic, Carlo Selmi, Maria De Santis
Journal: Front Immunol (2022)
Keywords: covid-19, anti-mda5 syndrome, autoimmune disease, cytokines, immunology, inflammatory myositis, type i interferon signature
MeSH terms: Autoimmune Diseases, COVID-19, Interferon Type I, Melanoma, Myositis, Case Reports, Systematic Review, Antigens, Differentiation, Autoimmunity, Biomarkers, Humans, Interferon-Induced Helicase, IFIH1, SARS-CoV-2, Antigens, Differentiation, Biomarkers, Interferon Type I, Interferon-Induced Helicase, IFIH1

Introduction:
The SARS-CoV-2 infection has been advocated as an environmental trigger for autoimmune diseases, and a paradigmatic example comes from similarities between COVID-19 and the myositis-spectrum disease associated with antibodies against the melanoma differentiation antigen 5 (MDA5) in terms of clinical features, lung involvement, and immune mechanisms, particularly type I interferons (IFN).
Case report:
We report a case of anti-MDA5 syndrome with skin manifestations, constitutional symptoms, and cardiomyopathy following a proven SARS-CoV-2 infection.
Systematic literature review:
We systematically searched for publications on inflammatory myositis associated with COVID-19. We describe the main clinical, immunological, and demographic features, focusing our attention on the anti-MDA5 syndrome.
Discussion:
MDA5 is a pattern recognition receptor essential in the immune response against viruses and this may contribute to explain the production of anti-MDA5 antibodies in some SARS-CoV-2 infected patients. The activation of MDA5 induces the synthesis of type I IFN with an antiviral role, inversely correlated with COVID-19 severity. Conversely, elevated type I IFN levels correlate with disease activity in anti-MDA5 syndrome. While recognizing this ia broad area of uncertainty, we speculate that the strong type I IFN response observed in patients with anti-MDA5 syndrome, might harbor protective effects against viral infections, including COVID-19.
A case of leiomyosarcoma of the ovarian vein with obstructive uropathy and hepatic metastasis
Authors: Sanjay M Khaladkar, Tejvir Singh, Karthik Mohanan, Rajesh Kuber, Satvik Dhirawani
Journal: SA J Radiol (2022)
Keywords: claw sign, gonadal vein, hepatic metastasis, leiomyosarcoma, obstructive uropathy, ovarian vein, retroperitoneal mass, vascular origin
MeSH terms: Case Reports

Leiomyosarcoma (LMS) is a smooth muscle-derived malignant mesenchymal tumour. Primary LMS arising from the ovarian vein is uncommon. A 51-year-old female presented with left loin pain and was diagnosed with a LMS arising from the gonadal vein. The patient refused any treatment. Early detection and timely diagnosis of retroperitoneal masses will improve the prognosis and survival rate in these patients. CT imaging plays an important role in diagnosis.
Contribution:
Retroperitoneal leiomyosarcoma of vascular origin is a rare entity. CT plays crucial role in diagnosing them by demonstrating the extent of the tumor along the gonadal vein. Early detection and timely diagnosis of retroperitoneal masses will improve the prognosis and survival rate in these patients.
Unusual presentation of seminal vesicle abscess: a report of two cases
Authors: Supradeep Narayanaswamy, Rajvi Ravi Goradia, Sujata Kiran Patwardhan
Journal: Pan Afr Med J (2023)
Keywords: seminal vesicle, abscess, case report, groin swelling, perineal abscess
MeSH terms: Abscess / diagnosis, Abscess / etiology, Abscess / therapy, Seminal Vesicles / surgery, Case Reports, Aged, Anti-Bacterial Agents / therapeutic use, Cross-Sectional Studies, Drainage / methods, Humans, Male, Middle Aged, Anti-Bacterial Agents

Seminal vesicle abscesses (SVA) are a rare condition, and their diagnosis is challenging with non-specific clinical presentation. Only a few cases of SVA have been published. Here we report two cases of SVA. The first one is a 58-year-old male with HIV and diabetes who presented with painful swelling in the left groin for 15 days. The second patient was a 65-year-old man who presented with painful swelling in the perineum for 15 days. Both patients were radiologically (computed tomography scan) diagnosed to have SVA. The first one was treated via surgical drainage for groin abscess and SVA was treated conservatively with intravenous broad-spectrum antibiotics. The latter was treated with SVA transurethral drainage. The pus culture showed Escherichia coli. Postoperative antibiotic therapies were contented without complications. In conclusion, although SVA may be clinically unsuspected, cross-sectional radiologic imaging findings should not be underestimated in order to promptly initiate treatment.
Case Report: 18F-MK6240 Tau Positron Emission Tomography Pattern Resembling Chronic Traumatic Encephalopathy in a Retired Australian Rules Football Player
Authors: Natasha Krishnadas, Vincent Doré, Fiona Lamb, Colin Groot, Paul McCrory, Rodney Guzman, Rachel Mulligan, Kun Huang, Meaghan O'Donnell, Jennie Ponsford, Malcolm Hopwood, Victor L Villemagne, Christopher C Rowe
Journal: Front Neurol (2020)
Keywords: alzheimer's disease (ad), chronic traumatic encephalopathy (cte), positron emission tomography (pet), case report, tau
MeSH terms: Case Reports

Introduction: It remains unclear if tau imaging may assist diagnosis of chronic traumatic encephalopathy (CTE). Flortaucipir PET has shown superior frontal with medial temporal tau binding consistent with the provisional neuropathological criteria for mid-stage CTE in group-level analyses of retired symptomatic NFL players and in one individual with pathologically confirmed CTE. 18F-MK6240 is a new PET ligand that has high affinity for tau. We present the case of a 63-year-old cognitively impaired, former Australian rules football player with distinct superior frontal and medial temporal 18F-MK6240 binding and show it to be significantly different to the pattern seen in prodromal Alzheimer's disease (AD). Findings: The participant was recruited for a study of amyloid-β and tau several decades after traumatic brain injury. He had multiple concussions during his football career but no cognitive complaints at retirement. A thalamic stroke in his mid 50s left stable mild cognitive deficits but family members reported further short-term memory, behavioral, and personality decline preceding the study. Imaging showed extensive small vessel disease on MRI, a moderate burden of amyloid-β plaques, and 18F-MK6240 binding in bilateral superior frontal and medial temporal cortices. Voxel-wise analysis demonstrated that the frontally predominant pattern of the participant was significantly different to the posterior temporo-parietal predominant pattern of prodromal AD. Conclusion: Although lacking neuropathological examination to distinguish CTE from a variant of AD, the clear demonstration of a CTE-like tau pattern in a single at-risk individual suggests further research on the potential of 18F-MK6240 PET for identifying CTE is warranted.
Idiopathic focal organizing pneumonia mimicking malignancy
Authors: Emrah Dogan, Utku Tapan, Ozge Oral Tapan, Turhan Togan, Özgür Ilhan Çelik
Journal: Pan Afr Med J (2020)
Keywords: idiopathic focal organizing pneumonia, cryptogenic organizing pneumonia, mimicking malignity
MeSH terms: Cough / etiology, Cryptogenic Organizing Pneumonia / diagnosis, Lung Neoplasms / diagnosis, Case Reports, Aged, Algorithms, Biopsy, Cryptogenic Organizing Pneumonia / pathology, Diagnosis, Differential, Humans, Positron Emission Tomography Computed Tomography

Idiopathic FOP is a rare type of COP. What we know on this subject is made up of a few clinical cases published in recent years. Our patient was admitted to the hospital with an intermittent coughing complaint that worsens over time. Due to a suspicion of malignancy, a radiological evaluation was requested including a PET-CT and a transbronchial biopsy was performed. Until the last part of our algorithm, the patient profile was clinically and radiologically in favor of the diagnosis of malignancy but, in the end, the diagnosis of FOP was fixed with a follow-up decision. In conclusion, FOP is a relatively new entity that should be kept in mind in the differential diagnosis of malignancy.
The Culture of Herbal Preparations Among Pregnant Women: A Remedy or a Suicide Potion? A Case Report and Mini Review
Authors: P P S Ossei, A Appiah-Kubi, F Ankobea-Kokroe, G Owusu-Asubonteng, W G Ayibor, O K Aninkora, J Taylor, E A Fenteng, E Agyemang-Duah, B M Agagli, N Niako
Journal: Case Rep Pathol (2020)
MeSH terms: Case Reports

In general, use of herbal remedies and preparations is on the ascendency in recent times among the general population and especially in young pregnant women, and this may be very dangerous due to adverse effects and interactions with drugs. A survey by the World Health Organization revealed that 70-80% of the world population resort to nonconventional medicines especially, herbal medicines in their primary healthcare. A lot of work has been done on the positive effects of herbs on the human body but very few publications on the potential side effects of consuming crude herbal preparations especially among pregnant women or the awareness of the medical team of this problem. Herbal remedies may come with many adverse effects and potentially serious interactions with some conventional medications. However, little is known about the dangers associated with consumption of herbal remedies by pregnant patients. Herbal medicines like their orthodox counterparts act through some mechanisms to bring about their curative effects in the body, and this usually goes out of order when these remedies interact with chemical drugs as a result of a combination of both by the victims. This is a case study to review the use of herbal medicine products among pregnant women, especially adolescent girls for abortive purposes, and also attempts to discuss some of the dangers associated with the use of herbal medicinal products together with conventional drugs during pregnancy.
A Challenging Case of Mammary Analogue Secretory Carcinoma: Case Study with Ultrastructural and Cytogenetic Correlation
Authors: Joseph Mathew, Michael Carvalho, Katherine Chorneyko, Samih Salama
Journal: Case Rep Pathol (2019)
MeSH terms: Case Reports

Mammary analogue secretory carcinoma (MASC) is a rare salivary gland tumor analogous to secretory carcinoma of the breast. The diagnosis of MASC can be challenging due to substantial morphologic and immunohistochemical similarities with other salivary gland tumors. The differential diagnosis of MASC is broad and includes intraductal carcinoma, acinic cell carcinoma, and adenocarcinoma, not otherwise specified. Although molecular testing for ETV6 gene rearrangement is characteristic of MASC and has not been shown in any other salivary gland tumor, a particular challenge arises when such testing is unavailable, or when molecular testing for ETV6 gene rearrangement is negative in a suspected case of MASC. Our study presents the diagnostic workup of a challenging case of MASC with immunohistochemistry, electron microscopy, and cytogenetic studies performed to resolve the diagnosis.
Acute-on-chronic food protein-induced enterocolitis syndrome in an exclusively breast-fed infant
Authors: Maria Ntoumpara, Fotini Sotiriadou, Maria Fotoulaki
Journal: Clin Case Rep (2018)
Keywords: acute‐on‐chronic fpies, breast‐fed, food protein‐induced enterocolitis syndrome
MeSH terms: Case Reports

Food protein-induced enterocolitis syndrome (FPIES) is a non-IgE-mediated gastrointestinal food hypersensitivity disorder, typically provoked by cow's milk or soy in formula-fed infants. This case shows that diagnosis of FPIES should be suspected in exclusively breast-fed infants and pediatricians should be suspicious of this in infants with shock and sepsis.
Case Report: Suprasellar Pituitary Adenoma Presenting With Temporal Lobe Seizures
Authors: Christopher S Hong, Ramana Gorrepati, Adam J Kundishora, Aladine A Elsamadicy, Patricia R Peter, Eyiyemisi C Damisah, R Peter Manes, Sacit Bulent Omay
Journal: Front Surg (2020)
Keywords: case report, epilepsy, macroadenoma, pituitary, seizures
MeSH terms: Case Reports

Seizures in patients with pituitary pathology are uncommon and typically secondary to electrolyte disturbances. Rarely, seizures have been described from mass effect related to large prolactinomas undergoing medical treatment. We describe a 54 year-old male who presented with a first-time generalized seizure, secondary to a pituitary macroadenoma compressing the left temporal lobe. His seizures abated after endoscopic endonasal debulking of the tumor. This report highlights isolated seizures as a potential sole presenting symptom of pituitary macroadenomas without visual or endocrine dysfunction. Prompt surgical debulking to relieve mass effect on the temporal lobe may effectively prevent further seizure activity.
Nasal paraganglioma: a case report
Authors: Mauren P Rocha, Andréa M Campagnolo, Vanessa S Macedo, Fabiana B Scarton, Henrique P Rocha, Gabriel Kuhl
Journal: Braz J Otorhinolaryngol (2005)
MeSH terms: Nose Neoplasms / diagnosis, Nose Neoplasms / surgery, Paraganglioma / diagnosis, Paraganglioma / surgery, Case Reports, Humans, Male, Middle Aged

Paragangliomas are tumors of the autonomic nervous system, arising from paraganglionic tissue. Paragangliomas of the head and neck region are very rare. In the head and neck, the most common sites of origin of this neoplasm are the carotid body, the jugular bulb and the vagal body. Paragangliomas of the nose and paranasal sinuses are very uncommon. The authors referred one case of nasal paraganglioma in a 45-year-old male patient, who was submitted to surgical excision, and included clinical findings, diagnostic criteria, treatment, prognosis and literature review. The importance of reporting this case refers to the rare incidence of paragangliomas in the nasal cavity and paranasal sinuses.
Use of the Pelvic C-Clamp to Mitigate Acute Respiratory Distress Syndrome in a Patient with an Unstable Sacral Fracture
Authors: Michael J DeRogatis, Paul S Issack
Journal: Case Rep Orthop (2018)
MeSH terms: Case Reports

Case:
We present the case of a 21-year-old man who fell from a roof, sustaining a displaced sacral fracture with pelvic instability. He developed acute respiratory distress syndrome (ARDS) within 24 hours of injury. Placement of the pelvic C-clamp resulted in rapid resolution of pulmonary dysfunction, allowing for definitive internal fixation.
Conclusion:
The C-clamp is most commonly used to control hemorrhage in unstable posterior pelvic ring injuries. Our case demonstrates a rare use of the C-clamp to stabilize the posterior pelvis in a patient with an unstable sacral fracture and ARDS, to rapidly improve pulmonary function prior to definitive surgery.
Recurrent Hemarthrosis following Resections of Benign Bone Tumors: A Case Report of Two Pediatric Cases
Authors: Ryan H Barnes, Dawn Harter, Robert J Esther, Ganesh V Kamath, Anna D Vergun
Journal: Case Rep Orthop (2021)
MeSH terms: Case Reports

Introduction/Cases. Two pediatric patients presenting with benign bone tumors of the distal femur at the level of the suprapatellar fat pad developed late onset recurrent knee hemarthrosis following surgical treatment of the lesions. A sinus tract from the intramedullary bone to the knee capsule was discovered in both patients during surgical exploration. Resection of the sinus tract and full closure of the knee capsule resulted in no further recurrence. Conclusion. Postoperative knee effusions in patients following resection near the distal femur could represent hemarthrosis that require additional workup and treatment. Resection of the sinus tract successfully treats the hemarthrosis.
Acquired von Willebrand Disease Associated with Mantle Cell Lymphoma
Authors: Dominique Maas, Britta Laros-van Gorkom, Sanne Gianotten, Marjan Cruijsen, Waander van Heerde, Marten Nijziel
Journal: Case Rep Hematol (2018)
MeSH terms: Case Reports

We present a rare case of acquired von Willebrand syndrome (AVWS) caused by a mantle cell lymphoma. A 61-year-old male suffered from recurrent bleeding symptoms since a few months. Initially, physical examination was normal. von Willebrand factor antigen (VWF:Ag) level and factor VIII activity (FVIII:C) were low (0.31 IU/ml and 0.43 IU/ml, resp.). Ristocetin cofactor activity (VWF:RCo) was 0.09 IU/ml, and collagen binding activity (VWF:CB) was 0.10 IU/ml. VWF:RCo/VWF:Ag ratio was 0.29, and RIPA value was normal. Highest molecular weight VWF multimers were absent. A diagnosis of von Willebrand Disease (VWD) type 2A was made. However, no genetic mutation was found. No inhibitory antibodies against VWF or factor VIII were detected. A few months later, cervical, axillary, and inguinal lymphadenopathy was found on physical examination. A CT scan confirmed multiple enlarged lymph nodes, and a clonal B-cell population matching a mantle cell lymphoma was detected in the bone marrow. Chemoimmunotherapy resulted in a very good partial remission and concomitantly in a rapid decrease of bleeding problems and complete normalization of FVIII:C and VWF:Ag. The diagnosis of AVWS cannot be rejected by negative mixing studies due to difficulties in the detection of autoantibodies and because of a highly heterogeneous pathogenesis of AVWS. When the suspicion of AVWS is high, an extensive investigation should be performed to find the underlying cause.
Rhabdomyolysis following Acute Extended-Release Quetiapine Poisoning: A Case Report
Authors: Antonios Liolios, Othman Sentissi
Journal: Case Rep Psychiatry (2012)

Background. During the past few years, there have been a number of case reports concerning rhabdomyolysis following quetiapine poisoning; however, there has been none concerning the medication in its extended-release form. Methods. We present the case report of a 48-year-old man presenting a major depressive disorder and borderline personality disorder, who after voluntary intoxication with 12000 mg of quetiapine extended-release developed signs of acute rhabdomyolysis. Results. The rhabdomyolysis was confirmed by the laboratory and the clinical findings, with elevated levels of creatinine, creatine phosphokinase, and CRP. Discussion. We would like to pinpoint the importance of this complication and our concern of prescribing it for psychiatric patients with chronic somatic comorbidities.