OpenMed/multicare-articles huggingface dataset:
Systemic metastases in large cell neuroendocrine prostate cancer: a rare case report and literature review
Authors: Maolin Xiao, Wei Tong, Xiao Xiao, Xiaofeng Pu, Faxian Yi
Journal: Front Oncol (2024)
Keywords: large cell, metastasis, neuroendocrine carcinoma, prostate cancer, transdifferentiation
MeSH terms: Case Reports

Neuroendocrine prostate neoplasms, encompassing small cell carcinoma, carcinoid, and large cell carcinoma, are infrequently observed in malignant prostate tumors. The occurrence of large cell neuroendocrine prostate cancer (LCNEPC) is exceedingly rare. In this study, the patient initially presented with a persistent dysuria for a duration of one year, accompanied by a serum prostate-specific antigen (PSA) level of 17.83ng/mL. Prostate magnetic resonance imaging (MRI) and chest computed tomography (CT) scan showed that a neoplastic lesion was considered, and prostate biopsy confirmed prostate adenocarcinoma with a Gleason score of 7 (4 + 3). Then, thoracoscopic lung tumor resection was performed, and the pathological examination revealed the presence of primary moderately differentiated invasive adenocarcinoma of the lung and metastatic prostate adenocarcinoma, the Gleason score was 8 (4 + 4). After 1 year of endocrine therapy with goserelin acetate and bicalutamide, he underwent a laparoscopic radical prostatectomy (LRP), the pathological report indicated the presence of adenocarcinoma mixed with NE carcinoma. Two months after the LRP, the patient experienced gross hematuria and sacral tail pain. Further examination revealed multiple metastatic lesions throughout the body. He also underwent transurethral resection of bladder tumor (TURBT) for bladder tumor and received etoposide+ cisplatin chemotherapy three weeks post-surgery. The patient eventually died of multi-organ failure due to myelosuppression after chemotherapy. This case report presents an uncommon instance of LCNEPC with widespread systemic metastases, while also providing a comprehensive review of existing literature to facilitate improved management and treatment strategies for similar patients in subsequent cases.
Traveling together! - Intrathymic thyroid tissue in a patient with Graves' disease
Authors: Hugh Ellis McCormick, Sidrah Khawar, Ameer Hamza
Journal: Autops Case Rep (2024)
Keywords: benign thymic nodule, ectopic thyroid, graves’ disease, intrathymic thyroid, mediastinal mass, thoracic intrathymic thyroid
MeSH terms: Case Reports

Ectopic thyroid tissue is rare in the general population and more prevalent in people who have existing thyroid disease. Common anatomical sites of ectopic thyroid tissue include the lateral cervical region, thyroglossal duct, mediastinum, lingual, sublingual, and submandibular region. Intrathymic ectopic thyroid tissue is exceedingly rare. The purpose of this report is to describe one such case in a 52-year-old African-American female with Graves' disease. The patient presented for a physical exam and follow-up. During the exam, an incidental mediastinal mass was discovered, which was evaluated by imaging studies and subsequently was resected. Histologically, the mass was composed of variable-sized thyroid follicles lined by a monolayer of cuboidal to columnar follicular epithelial cells and filled with eosinophilic colloid, surrounded by a rim of unremarkable compressed thymic tissue.
Concomitant presentation of thrombotic thrombocytopenic purpura, immune thrombocytopenia, and autoimmune hemolytic anemia in a patient with newly diagnosed systemic lupus erythematosus
Authors: Lina Bruns, Linus Völker, Robert Klamroth, Martin K Kuhlmann, Wolfram J Jabs
Journal: Clin Nephrol Case Stud (2023)
Keywords: acquired thrombotic thrombocytopenic purpura, autoimmune hemolytic anemia, immune thrombocytopenia, systemic lupus erythematosus, thrombocytopenia
MeSH terms: Case Reports

Thrombocytopenia is always of concern when encountered in emergency settings. We report a case of a 29-year-old women in whom a unique constellation of hematological disorders occurred. The patient had been diagnosed with idiopathic immune thrombocytopenia (ITP) in 2007, with a history of several thrombocytopenic flares. She now presented with homonymous hemianopia accompanied by thrombocytopenia and microangiopathic hemolytic anemia (MAHA) and was soon after diagnosed with a posterior stroke. Symptoms were more reminiscent of acquired thrombotic thrombocytopenic purpura (aTTP) rather than ITP. Immediate treatment with plasma exchange and caplacizumab curtailed MAHA, and progressive ischemic disease was averted. ADAMTS-13 testing confirmed the diagnosis of immune-mediated aTTP. Repeated testing for ITP, however, also showed IgG-loaded thrombocytes with the former known anti-GPIIb/IIIa specificity. Furthermore, autoimmune hemolytic anemia (AIHA) could be detected by direct antiglobulin test showing IgG and complement loading of the patient's erythrocytes. The autoimmune background of all three entities suggested an underlying systemic disease. Indeed, systemic lupus erythematosus (SLE) serology was strongly positive allowing for the diagnosis of SLE. ITP and AIHA as well as aTTP can be secondary to SLE, but emergence of all three disorders has not been reported at the same time.
Case Report: A MiT family translocation renal cell carcinoma in the renal pelvis, calyces and upper ureter misdiagnosed as upper tract urothelial carcinoma
Authors: Yuhua Zou, Linwei Liu, Xiaojuan Xie, Cunzhi Zhong, Qinlin Wang, Sheng Yan, Quanliang Liu
Journal: Front Oncol (2023)
Keywords: mit family translocation rcc, misdiagnosed, renal cell carcinoma, renal pelvis, upper tract urothelial carcinoma, upper ureter, ureteroscopy
MeSH terms: Case Reports

Background:
Upper tract urothelial carcinoma (UTUC) is the most common urothelial malignancy in the renal pelvis or ureter. Renal pelvic carcinoma accounts for 90% of all tumours in the renal pelvis, so the mass in the renal pelvis is usually considered a UTUC. Renal cell carcinoma (RCC) in the renal pelvis, calyces and upper ureter is extremely rare, especially MiT family translocation RCC, which makes this case even more uncommon.
Case presentation:
We report the case of a 54-year-old man had intermittent painless gross haematuria with occasional blood clots and urodynia for 2 years. Contrast-enhanced computed tomography (CT) and magnetic resonance imaging (MRI) scan showed an enlarged left kidney, and a soft tissue mass was seen in the renal pelvis, calyces and upper ureter. The patient's urine-based cytology was positive three times. Due to the severity of the upper ureteral lumen stenosis, we did not perform pathological biopsy during ureteroscopy. In the current case, clinical symptoms, imaging examinations, urine-based cytology, and ureteroscopy were combined to obtain a preoperative diagnosis of UTUC. Therefore, robot-assisted laparoscopic left radical nephroureterectomy and retroperitoneal lymphadenectomy were performed. Unexpectedly, the patient was pathologically diagnosed with MiT family translocation RCC after surgery. The surgery was uneventful. There was no intestinal tube injury or other complications perioperatively. The postoperative follow-up was satisfactory.
Conclusion:

MiT family translocation RCC in the renal pelvis, calyces and upper ureter is extremely rare, and can be easily confused with UTUC, resulting in the expansion of surgical scope. Preoperative ureteroscopy and biopsy or tumour punch biopsy should be used to obtain accurate pathology as far as possible, and the selection of correct surgical method is conducive to a good prognosis for patients.
Clinical characteristics of Chinese neonates with neonatal-onset multisystem inflammatory disease: a case report and literature review
Authors: Cui Zhao, Chen Liu, Xiaoying Li
Journal: Front Immunol (2024)
Keywords: nlrp3 gene, nomid/cinca, aseptic meningitis, neonate, novel mutation
MeSH terms: Cryopyrin-Associated Periodic Syndromes / diagnosis, Cryopyrin-Associated Periodic Syndromes / genetics, Exanthema, Review, Case Reports, Research Support, Non-U.S. Gov't, China, Fever, Humans, Infant, Newborn, NLR Family, Pyrin Domain-Containing 3 Protein / genetics, NLR Family, Pyrin Domain-Containing 3 Protein

Background:
Neonatal-onset multisystem inflammatory disease (NOMID) is a rare and severe autoinflammatory disease caused by mutations of the NLRP3 gene and is characterized by a skin rash, fever, arthropathy, and neurologic manifestations. We herein report a neonatal case with recurrent rash, fever, and meningitis from 12 h after birth, and NOMID was diagnosed during the neonatal period. We also reviewed the clinical characteristics and genetic mutations of previously reported Chinese neonates with NOMID.
Case presentation and literature review:
NOMID is rare in China, and there have been over 100 cases uncovered thus far, including ours. The patient we reported here was the youngest among the confirmed Chinese cases and had the de novo mutation c.1210G>C (p.V404L) in exon 4 of the NLRP3 gene, which has not been reported previously. All 25 patients manifested recurrent urticaria-like rash, and 24 were febrile. Of the 23 patients with genetic data available, all had NLRP3 mutations. The primary treatment of these patients entailed glucocorticoids and immunosuppressants; however, the IL-1 inhibitor was rarely used due to its current unavailability in China. One patient was cured by umbilical cord blood stem cell transplantation (UCBT), which provided an alternative treatment.
Conclusion:
We recommend that NOMID be considered for neonates with recurrent rash, fever, and aseptic meningitis. However, further research on underlying mechanisms and therapeutic regimens in China is necessary to provide improved management.
Tumor Growth in Overdrive: Detailing an Aggressive Course of Hepatocellular Carcinoma
Authors: Simardeep Singh, Thilini Delungahawatta, Marcos Wolff, Christopher J Haas
Journal: Case Reports Hepatol (2024)
MeSH terms: Case Reports

Hepatocellular carcinoma ranks as the third leading cause of cancer-related mortality globally. We present a case of a rapidly progressive hepatocellular carcinoma in an 81-year-old female with metabolic abnormalities. The patient initially presented with non-specific signs and symptoms and was managed for sepsis of suspected urinary source. Unresolving laboratory markers led to repeat abdominal imaging demonstrating new hepatic lesions within six days. Biopsy confirmed moderately differentiated hepatocellular carcinoma. The patient received conservative inpatient treatment with recommendation for nutritional and performance status optimization prior to oncologic therapies, however continued to decline and passed away three months later.
Hyperbaric oxygen therapy for thalamic pain syndrome: case report
Authors: John Benjamin Slade, Nathan Kwan, Peter Lennox, Russell Gray
Journal: Front Neurol (2024)
Keywords: case report, central post-stroke pain, hyperbaric oxygen, post-stroke thalamic pain, thalamic pain syndrome
MeSH terms: Case Reports

Thalamic pain syndrome is a distressing type of central post-stroke pain (CPSP) that occurs in up to 10% of cases following a cerebrovascular accident, typically with a delayed onset of signs and symptoms, and is often chronic or even life-long. Thalamic pain syndrome, as is the case for other CPSPs, is difficult to treat, and the response is typically moderate at best. Central pain also occurs after vascular insults in parts of the CNS other than the thalamus. Only a few patients present with the classic "Dejerine and Roussy syndrome," so the term CPSP is preferred for describing neuropathic pain after stroke. There are no pathognomonic features of this syndrome. The thalamus probably has a substantial role in some patients with central pain, either as a pain generator or by abnormal processing of ascending input. Long-term post-stroke pain disorders can reduce the quality of life, affect mood, sleep, and social functioning, and can lead to suicide. Hemi-body pain is common in patients with thalamic lesions. Hyperbaric oxygen has known physiologic and pharmacologic effects with documented benefits in brain-related hemorrhages, acute and chronic stroke, traumatic brain injury, mild cognitive impairment, neurodegenerative diseases, and neuroprotection, but has never been reported as a treatment for thalamic pain syndrome. A 55-year-old man with a history of migraines suffered a right thalamic lacunar infarction following a brain angiogram to investigate a suspected AVM found on prior imaging that resulted in immediate left-sided weakness and numbness, evolving to severe chronic pain and subsequent stiffness. Diagnosed with thalamic pain syndrome, multiple pharmacologic therapies provided only partial relief for a year after the stroke. The patient's symptoms resolved and quality of life markedly improved with hyperbaric oxygen therapy, as assessed by multiple validated questionnaires, thus it may be a treatment option for thalamic pain syndrome.
Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
Authors: Rand Murshidi, Heba Al-Lala
Journal: Case Rep Dermatol Med (2023)
MeSH terms: Case Reports

Ectodermal dysplasias (ED) encompass a collection of conditions wherein the development of two or more structures derived from the ectoderm exhibits abnormal patterns. One example of such a rarity within the spectrum of ectodermal dysplasias is hidrotic ectodermal dysplasia, also known as Clouston syndrome. This particular variant is distinguished by a triad of clinical characteristics, which encompass partial-to-complete alopecia, nail dystrophy, and palmoplantar hyperkeratosis. It stands as a scarcely encountered autosomal-dominant inherited disorder, resulting from a mutation in the GJB6 gene that encodes the gap junction protein connexin 30. We hereby document the case of a forty-five-year-old Jordanian woman who presented with alopecia affecting the scalp, eyebrows, and eyelashes, in addition to nail dystrophy. Interestingly, she did not manifest palmoplantar keratoderma. It is worth mentioning that several members of her extended family also manifested similar clinical features. Subsequent genetic testing conclusively established the diagnosis of Clouston syndrome. In light of this diagnosis, comprehensive counseling was extended to the patient.
A Miraculous Save: Gangrenous Bowel and Meckle's Diverticulum With Acute Superior Mesenteric Artery Thrombosis
Authors: Abhilasha Bhargava, Pankaj Gharde, Harshal Tayade, Akash Inamdar
Journal: Cureus (2024)
Keywords: anastomotic leak after gastrointestinal surgery, gangrenous meckels diverticulum, meckels diverticulum, resection and anastomosis, small bowel obstruction, superior artery thrombus
MeSH terms: Case Reports

The superior mesenteric artery (SMA) is vital for parts of the small intestine and ascending colon. Thrombosis of this major artery is a severe and potentially fatal condition involving the occlusion of the arterial vascular supply, causing ischemia predisposing to gangrene. Meckel's diverticulum is a congenital outpouching in the lower part of the small intestine. The condition of gangrenous meckels diverticulum is, therefore, even more limited. This study presents a unique case of a 45-year-old male with coexisting features of SMA thrombus with acute small bowel intestinal obstruction. During the study, the patient was found to have sickle cell anemia with an AS pattern, which may have predisposed the formation of a thrombus. The patient underwent sequential management of active thrombus by thrombolysis first, followed by resection anastomosis for gangrenous bowel. With precise monitoring and therapeutic care, the patient made a remarkable recovery. The condition possesses a high mortality rate. Prompt recognition and timely intervention in this case are of utmost significance.
Black Esophagus: A Rare Case of Acute Esophageal Necrosis
Authors: Siddharth Chinta, Abhilasha Jyala, Haider Ghazanfar, Jasbir Makker
Journal: Cureus (2024)
Keywords: acute esophageal necrosis (aen), black esophagus, esophagus, hematemesis, necrotizing esophagitis
MeSH terms: Case Reports

Acute esophageal necrosis (AEN) also known as necrotizing esophagitis or black esophagus is an extremely rare cause of upper gastrointestinal (GI) bleeding. This condition is considerably rare, and the exact pathophysiology of the development of AEN is still unclear. There is consensus that it is caused by a combination of esophageal mucosal injury due to gastric acid and ischemic injury due to vascular compromise. The management of AEN includes correcting the multitude of underlying predisposing conditions as well as agile symptomatic management and close monitoring for signs of hemodynamic compromise. We here present an interesting case of a middle-aged male patient who presented with hematemesis and underwent emergent esophagogastroduodenoscopy (EGD), which revealed severe necrotic esophagus. We also discussed the risk factors, pathophysiology, and management of AEN.
Lethal Neural Tube Defects: Reports of Anencephaly and Craniorachischisis Cases and Literature Review
Authors: Alemayehu Shiferaw Lema, Jemila Salih Suleyman
Journal: Case Rep Obstet Gynecol (2023)
MeSH terms: Case Reports

Neural tube defects are serious birth defects of the central nervous system that result from a multifaceted disruption of normal embryogenesis of the nervous system. Although largely preventable, they nonetheless pose a serious threat to global morbidity, disability, mortality, and financial expenses. Despite this, it has been neglected and has only been the subject of limited research until recently. Furthermore, surveillance efforts for neural tube defects remain limited, and no decline in defects has been documented in less developed countries. Here, we report two cases of craniorachischisis and one case of discordant twins for anencephaly. Moreover, the relevant works of literature that are necessary to understand and address this unrelenting phenomenon are provided.
Case report: Axillary lymph node metastases from primary ovarian cancer: a report of two cases and literature review
Authors: Norlia Abdullah, Nadiah Rosly, Suria Hayati Md Pauzi, Aida Widure Mustapha, Yulianty Arifuddin
Journal: Front Oncol (2024)
Keywords: axillary, carcinoma, lymph node, metastasis, ovarian
MeSH terms: Case Reports

Ovarian cancer is usually confined intraperitoneally. Distant metastases at presentation is unusual. Its spread via lymphatics is uncommon, and metastasis to axillary lymph nodes is very rare. We report two cases with presentation of axillary lymphadenopathy without breast involvement. Computed tomography scan identified the ovarian masses. Both had elevated Serum Ca 125. The first case had a Grade 2 ovarian endometrioid carcinoma. The second case had a high-grade serous ovarian carcinoma. These cases illustrate the rarity of axillary lymphadenopathy from ovarian cancer. It is important to identify the primary ovarian carcinoma in order to offer appropriate management. Despite surgery and chemotherapy, both succumbed within 3 years from diagnosis.
Porokeratosis of the scrotum: a case report and literature review
Authors: Xiaorong Zhang, Bangtao Chen, Jing Yang
Journal: Front Med (Lausanne) (2024)
Keywords: clinical manifestations, diagnosis, histopathology, rare, scrotal porokeratosis
MeSH terms: Case Reports

Porokeratosis, a keratinizing disorder of unknown etiology, exhibits an autosomal dominant inheritance pattern or manifests as an isolated acquired dermatosis. This condition can occur at any site on the skin; however, scrotal lesions are extremely rare. Only 18 cases of scrotal lesions were identified through a comprehensive review of the relevant literature. Herein, we present a case of a 19-year-old patient with porokeratosis of the scrotum. Additionally, we provide a summary of the etiologies, clinical manifestations, and histopathology of scrotal porokeratosis, and present differential diagnoses by reviewing the related literature.
Solitary fibrous tumor of the pineal gland: a case report and review of the literature
Authors: Yixiao He, Pengchen He, Anqun Wang, Yuzhu Ji, Gang Xie, Lili Zou
Journal: Front Oncol (2024)
Keywords: central nervous system, immunohistochemistry, mesenchymal tumor, pineal gland, solitary fibrous tumor (sft)
MeSH terms: Case Reports

Solitary fibrous tumor (SFT) is a type of fibroblastic neoplasm that can occur in various parts of the body, with SFT of the pineal gland being exceedingly rare. We report the case of a 58-year-old male presenting with recurrent hiccups, acid reflux, and headache. Magnetic resonance imaging revealed an occupying lesion in the pineal region, suggestive of a neoplastic process. Intraoperatively, the lesion was located in the pineal region, exhibiting a grayish-red color, and was largely resected. Pathological examination confirmed the diagnosis of solitary fibrous tumor (CNS WHO Grade 1). Postoperatively, the patient was supplemented with radiotherapy, and long-term follow-up showed no signs of recurrence or metastasis.
Submandibular and sublingual salivary gland involvement in adenoid cystic carcinoma
Authors: Poonam Ramnath Sawant, Manjeeta Mahesh Sinai Dhume, Anita Spadigam, Anita Dhupar
Journal: Autops Case Rep (2024)
Keywords: carcinoma, adenoid cystic, salivary gland diseases, sublingual gland, submandibular gland
MeSH terms: Case Reports

Adenoid cystic carcinoma (AdCC) is a malignant salivary gland neoplasm that presents as an indolent but aggressive neoplasm. AdCC histogenesis is linked to the intercalated ducts of the salivary glands, equally affecting the major and minor glands. AdCC is associated with distant metastasis, most commonly to the lungs, and a high recurrence rate. AdCC accounts for 4.2% of all tumors. About 55% of all reported cases affect the submandibular gland, and around 50% of AdCC cases occur in the minor salivary glands. The present review describes a case of AdCC which presented a single nodular swelling on the right side involving the floor of the mouth. It also consolidates the histopathological profile of a case of AdCC with all the relevant histopathological features.
Primary hepatic squamous cell carcinoma: case report and systematic review of the literature
Authors: Lin Zhao, Yan Zhou, Jianmin Ding, Zhengyi Qin, Hongyu Zhou, Xiang Jing
Journal: Front Oncol (2023)
Keywords: clinical characteristics, clinical course, imaging findings, primary hepatic squamous cell carcinoma, treatments and prognosis
MeSH terms: Case Reports

Primary hepatic squamous cell carcinoma (SCC) is extremely rare, and only a few dozen cases have been reported to date. It can barely be diagnosed before histopathological examination, which necessitates the exclusion of metastatic tumors. In this case, we present a 60-year-old female patient with no comorbidity. As laboratory tests and imaging examinations were not diagnostic, ultrasonography (US)-guided liver biopsy was performed and eventually revealed a definitive pathological diagnosis of hepatic SCC. After excluding metastasis, the diagnosis of primary hepatic SCC was established, and then chemotherapy and immunotherapy were performed. Additionally, a comprehensive literature search was conducted on primary hepatic SCC using PubMed, Google Scholar, and Web of Science, and a total of 53 articles were retrieved with a time range from 1972 to 2022. A critical analysis was then performed to evaluate previous literature focusing on the clinical characteristics, imaging features, treatments, and prognosis.