OpenMed/multicare-articles huggingface dataset:
Case report: Novel variants in RELA associated with familial Behcet's-like disease
Authors: Jason W An, Pallavi Pimpale-Chavan, Deborah L Stone, Marcia Bandeira, Fatma Dedeoglu, Jeffrey Lo, John Bohnsack, Sofia Rosenzweig, Oskar Schnappauf, Dilan Dissanayake, Linda T Hiraki, Daniel L Kastner, Christina Pelajo, Ronald M Laxer, Ivona Aksentijevich
Journal: Front Immunol (2023)
Keywords: behcet’s disease, nf-κb, raid, rela, rela haploinsufficiency, rela-associated inflammatory disease, autoinflammatory, mucosal ulcers
MeSH terms: Behcet Syndrome / drug therapy, Behcet Syndrome / genetics, NF-kappa B / metabolism, Case Reports, Research Support, N.I.H., Intramural, Genetic Testing, Humans, Inflammation / genetics, Signal Transduction / genetics, Transcription Factor RelA / genetics, Transcription Factor RelA / metabolism, NF-kappa B, RELA protein, human, Transcription Factor RelA

RELA haploinsufficiency is a recently described autoinflammatory condition presenting with intermittent fevers and mucocutaneous ulcerations. The RELA gene encodes the p65 protein, one of five NF-κB family transcription factors. As RELA is an essential regulator of mucosal homeostasis, haploinsufficiency leads to decreased NF-κB signaling which promotes TNF-driven mucosal apoptosis with impaired epithelial recovery. Thus far, only eight cases have been reported in the literature. Here, we report four families with three novel and one previously described pathogenic variant in RELA. These four families included 23 affected individuals for which genetic testing was available in 16. Almost half of these patients had been previously diagnosed with more common rheumatologic entities (such as Behcet's Disease; BD) prior to the discovery of their pathogenic RELA variants. The most common clinical features were orogenital ulcers, rash, joint inflammation, and fever. The least common were conjunctivitis and recurrent infections. Clinical variability was remarkable even among familial cases, and incomplete penetrance was observed. Patients in our series were treated with a variety of medications, and benefit was observed with glucocorticoids, colchicine, and TNF inhibitors. Altogether, our work adds to the current literature and doubles the number of reported cases with RELA-Associated Inflammatory Disease (RAID). It reaffirms the central importance of the NF-κB pathway in immunity and inflammation, as well as the important regulatory role of RELA in mucosal homeostasis. RELA associated inflammatory disease should be considered in all patients with BD, particularly those with early onset and/or with a strong family history.
Zollinger-Ellison syndrome associated with neurofibromatosis type 1: a case report
Authors: Wan-Sik Lee, Yang-Seok Koh, Jung-Chul Kim, Chang-Hwan Park, Young-Eun Joo, Hyun-Soo Kim, Chol-Kyoon Cho, Sung-Kyu Choi, Jong-Sun Rew, Sei-Jong Kim
Journal: BMC Cancer (2005)
MeSH terms: Neurofibromatosis 1 / complications, Neurofibromatosis 1 / diagnosis, Zollinger-Ellison Syndrome / complications, Zollinger-Ellison Syndrome / diagnosis, Case Reports, Adult, Biopsy, Endoscopy, Female, Gastrinoma / complications, Gastrinoma / diagnosis, Gastrins / biosynthesis, Gastrins / blood, Humans, Immunohistochemistry, Neurofibromatosis 1 / surgery, Proto-Oncogene Proteins c-kit / biosynthesis, Tomography, X-Ray Computed, Treatment Outcome, Zollinger-Ellison Syndrome / surgery, Gastrins, Proto-Oncogene Proteins c-kit

Background:
Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder with characteristic features of skin and central nervous system involvement. Gastrointestinal involvement is rare, but the risk of malignancy development is considerable. Zollinger-Ellison syndrome is caused by gastrin-secreting tumors called gastrinomas. Correct diagnosis is often difficult, and curative treatment can only be achieved surgically.
Case presentation:
A 41-year-old female affected by neurofibromatosis type 1 presented with a history of recurrent epigastric soreness, diarrhea, and relapsing chronic duodenal ulcer. Her serum fasting gastrin level was over 1000 pg/mL. An abdominal CT scan revealed a 3 x 2-cm, well-enhanced mass adjacent to the duodenal loop. She was not associated with multiple endocrine neoplasia type 1. Operative resection was performed and gastrinoma was diagnosed by immunohistochemical staining. The serum gastrin level decreased to 99.1 pg/mL after surgery, and symptoms and endoscopic findings completely resolved without recurrences.
Conclusion:
Gastrinoma is difficult to detect even in the general population, and hence symptoms such as recurrent idiopathic peptic ulcer and diarrhea in neurofibromatosis type 1 patients should be accounted for as possibly contributing to Zollinger-Ellison syndrome.
Genital schistosomiasis in European women
Authors: Xavier Catteau, Anass Fakhri, Valérie Albert, Brahima Doukoure, Jean-Christophe Noël
Journal: ISRN Obstet Gynecol (2011)
MeSH terms: Case Reports

Female genital schistosomiasis (FGS) is an isolated chronic form of schistosomiasis. Although most infections occur in residents of endemic areas, it has been clearly documented that brief freshwater exposure is sufficient to establish infection; thus, travellers may also be infected. The clinical manifestations of FGS are nonspecific, and lesions may mimic any neoplastic or infectious process in the female genital tract. It is important to take a careful history and physical examination, making sure to consider travel history in endemic areas. The diagnosis is confirmed by microscopy with egg identification or by serology. The standard of care for treatment is a single dose of oral praziquantel which avoids complications and substantial morbidity. Herein, we report a rare and original case of FGS in a European woman.
Unusual gingival enlargement: a rare case report
Authors: Ashutosh Dixit, Seema Dixit, Pravin Kumar
Journal: Case Rep Dent (2014)

This is an atypical case report of a 20-year-old male patient who suffered from unusual unilateral, gingival enlargement together with rapidly progressive alveolar bone loss. The enlarged gingiva completely covered his left posterior teeth in both arches. The patient was diagnosed with gingival fibromatosis and aggressive periodontitis based on the clinical, histological, and radiographic findings. The gingival enlargement was treated by conventional gingivectomy under local anaesthesia. The postoperative result was uneventful.
Liver abscess after common hepatic artery embolization for delayed hemorrhage following pancreaticoduodenectomy: a case report
Authors: Yuichi Sanada, Hiroki Kondo, Satoshi Goshima, Masayuki Kanematsu, Yoshihiro Tanaka, Yasuharu Tokuyama, Shinji Osada, Kazuhiro Yoshida
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

A 55-year-old man underwent pancreaticoduodenectomy for bile duct carcinoma in March 2009. The patient developed anastomotic leakage and had a short episode of hemorrhage from the drainage tubes with spontaneous disappearance. CT and upper endoscopy did not reveal the source of bleeding. A massive life-threatening hemorrhage occurred on the 18th postsurgical day. Emergency angiography showed a 2.7-cm pseudoaneurysm of the gastroduodenal artery stump, and hepatic artery embolization was performed. After embolization, an abscess appeared in segments 2/3 of the liver without involving the right lobe. We treated conservatively by drainage and antibiotics. During the course of therapy after embolization, the patient experienced several episodes of high fever but did not develop hepatic failure. On the 68th day after embolization, the abscess had penetrated to the lesser sac, which was immediately treated by percutaneous drainage. Anastomotic leakage was treated by continuous irrigation from the drain, for which complete resolution was achieved by the 34th day after embolization. The patient was discharged 101 days after embolization. Imaging and the clinical course demonstrate a unique mechanism of abscess formation after embolization.
Intracranial vertebrobasilar artery dissection associated with postpartum angiopathy
Authors: James S McKinney, Steven R Messé, Bryan A Pukenas, Sudhakar R Satti, John B Weigele, Robert W Hurst, Joshua M Levine, Scott E Kasner, Lauren H Sansing
Journal: Stroke Res Treat (2010)
MeSH terms: Case Reports

Background. Cervicocephalic arterial dissection (CCAD) is rare in the postpartum period. To our knowledge this is the first reported case of postpartum angiopathy (PPA) presenting with ischemic stroke due to intracranial arterial dissection. Case. A 41-year-old woman presented with blurred vision, headache, and generalized seizures 5 days after delivering twins. She was treated with magnesium for eclampsia. MRI identified multiple posterior circulation infarcts. Angiography identified a complex dissection extending from both intradural vertebral arteries, through the basilar artery, and into both posterior cerebral arteries. Multiple segments of arterial dilatation and narrowing consistent with PPA were present. Xenon enhanced CT (Xe-CT) showed reduced regional cerebral blood flow that is improved with elevation in blood pressure. Conclusion. Intracranial vertebrobasilar dissection causing stroke is a rare complication of pregnancy. Eclampsia and PPA may play a role in its pathogenesis. Blood pressure management may be tailored using quantitative blood flow studies, such as Xe-CT.
Intra-Articular Entrapment of the Medial Epicondyle following a Traumatic Fracture Dislocation of the Elbow in an Adult
Authors: Hicham G Abdel Nour, George S El Rassi, Jack C Daoud, Youssef G Hassan, Rami A Ayoubi, Nabih I Joukhadar
Journal: Case Rep Orthop (2018)
MeSH terms: Case Reports

Medial epicondyle entrapment after an acute fracture dislocation of the elbow is a common finding in the pediatric population, but a rare finding in adults. We present a case of an adult patient diagnosed with a traumatic fracture dislocation of the elbow joint with intra-articular entrapment of the medial epicondyle. After initial evaluation, closed reduction was done. Stability testing after reduction showed an unstable joint; thus, open reduction and internal fixation was decided.
Lorazepam-Resistant Catatonia in an Antipsychotic-Naïve 24-Year-Old with Psychotic Symptoms
Authors: Juan Pablo Lucchelli, Stamatia Kourakou, Laia Pérez de Lucia Bové, Daniel Diaz Rodriguez
Journal: Case Rep Psychiatry (2020)
MeSH terms: Case Reports

Catatonia is a complex identifiable clinical syndrome characterized primarily by psychomotor symptoms. In recent decades, some authors have considered that catatonia can be presented as a catatonic syndrome in several pathologies such as bipolar disorder, schizophrenia and other psychotic disorders and not only in schizophrenia. Prior to DSM 5, there were two conceptions of catatonia: one in which clinical characterization seemed to play a determining role (a categorical view) and another in which a dimensional perspective advocated the existence of catatonia as a clinical entity in its own right, detached from the underlying pathology. Although there are no definitive consensus guidelines for the treatment of catatonia, some studies show that in the schizophrenic form of catatonia, benzodiazepines are partially effective, as well as treatment with ECT. We present the case of a 24-year-old man with severe catatonia and psychotic symptoms, resistant to lorazepam treatment, who achieved complete remission with clozapine treatment according to our diagnostic hypothesis of schizophrenia.
Synchronous Malignant Peripheral Nerve Sheath Tumor and Adenocarcinoma of the Prostate: Case Report and Literature Review
Authors: Nikolaos Ferakis, Antonios Katsimantas, Konstantinos Bouropoulos, Antonios Farmakis
Journal: Case Rep Urol (2016)

Malignant Peripheral Nerve Sheath Tumors (MPNSTs) of the prostate are extremely rare. A very unusual case of simultaneous adenocarcinoma and MPNST of the prostate is reported. A 60-year-old Caucasian male presented for annual urologic examination. Digital rectal examination revealed a painless, toughish, and asymmetrically enlarged prostate. Serum prostate-specific antigen was 1 ng/mL. Radiologic examinations demonstrated a large mass, which was arising from the left peripheral lobe of the prostate. The patient underwent transrectal ultrasound-guided biopsy of the prostate which revealed a smooth muscle tumor of uncertain malignant potential. Radical retropubic prostatectomy with en bloc removal of the mass and the seminal vesicles was performed and histology demonstrated low-grade MPNST and adenocarcinoma of the prostate. To the best of our knowledge, this is the first report of simultaneous prostatic adenocarcinoma and MPNST in the English literature.
Dual-Task nTMS Mapping to Visualize the Cortico-Subcortical Language Network and Capture Postoperative Outcome-A Patient Series in Neurosurgery
Authors: Ann-Katrin Ohlerth, Roelien Bastiaanse, Lyndsey Nickels, Beate Neu, Wei Zhang, Sebastian Ille, Nico Sollmann, Sandro M Krieg
Journal: Front Oncol (2022)
Keywords: action naming, case series, direct electrical stimulation, language mapping, navigated transcranial magnetic stimulation, object naming, postoperative language state

Background:
Perioperative assessment of language function in brain tumor patients commonly relies on administration of object naming during stimulation mapping. Ample research, however, points to the benefit of adding verb tasks to the testing paradigm in order to delineate and preserve postoperative language function more comprehensively. This research uses a case series approach to explore the feasibility and added value of a dual-task protocol that includes both a noun task (object naming) and a verb task (action naming) in perioperative delineation of language functions.
Materials and methods:
Seven neurosurgical cases underwent perioperative language assessment with both object and action naming. This entailed preoperative baseline testing, preoperative stimulation mapping with navigated Transcranial Magnetic Stimulation (nTMS) with subsequent white matter visualization, intraoperative mapping with Direct Electrical Stimulation (DES) in 4 cases, and postoperative imaging and examination of language change.
Results:
We observed a divergent pattern of language organization and decline between cases who showed lesions close to the delineated language network and hence underwent DES mapping, and those that did not. The latter displayed no new impairment postoperatively consistent with an unharmed network for the neural circuits of both object and action naming. For the cases who underwent DES, on the other hand, a higher sensitivity was found for action naming over object naming. Firstly, action naming preferentially predicted the overall language state compared to aphasia batteries. Secondly, it more accurately predicted intraoperative positive language areas as revealed by DES. Thirdly, double dissociations between postoperatively unimpaired object naming and impaired action naming and vice versa indicate segregated skills and neural representation for noun versus verb processing, especially in the ventral stream. Overlaying postoperative imaging with object and action naming networks revealed that dual-task nTMS mapping can explain the drop in performance in those cases where the network appeared in proximity to the resection cavity.
Conclusion:
Using a dual-task protocol for visualization of cortical and subcortical language areas through nTMS mapping proved to be able to capture network-to-deficit relations in our case series. Ultimately, adding action naming to clinical nTMS and DES mapping may help prevent postoperative deficits of this seemingly segregated skill.
A Case of Untreated Myeloid Sarcoma of the Pancreas Head Region: Diagnostic Process of AML Subtyping in an Autoptic Case
Authors: Yuki Fukumura, Gentaro Taniguchi, Ai Koyanagi, Yuki Horiuchi, Tomonori Ochiai, Yoko Tabe, Katsuhiro Sano, Yifare Maimaitiaili, Naomi Otsuji, Karin Ashizawa, Takashi Yao
Journal: Case Rep Pathol (2021)
MeSH terms: Case Reports

This study describes an autopsy case of pancreatic/peripancreatic myeloid sarcoma in a 70-year-old man, initially presenting with obstructive jaundice. Pathologically, diffuse infiltration of round cells containing atypical nuclei with marked cleavage was observed mainly in the pancreas head, peripancreatic lymph nodes, spleen, bilateral lung, and bone marrow. Immunohistochemically, the tumor cells were negative for CD20, CD79a, CD3, CD5, c-kit, CD34, and TdT and positive for myeloperoxidase, CD33, CD68, and CD163. Flow cytometry of the peripheral blood showed underexpression of CD11c and aberrant expression of CD56 in the monocyte subset. The peripheral blood smear showed an increase in monocytes and atypia in neutrophils and monocytes, as well as enlarged platelets and polychromatic erythroblasts. Hence, it was suggested that the myeloid sarcoma was derived from the acute transformation of chronic myelomonocytic leukemia. Myeloid sarcoma is an extramedullary-mass-forming hematologic malignancy that is difficult to diagnose, especially when the initial presentation is a pancreatic mass. However, early diagnosis is important for appropriate therapy. Although bone marrow examination could not be performed because of the patients' severe condition, the pathological specimen obtained with autopsy helped subtype the patient's leukemia. The immunohistochemical features of this case merit attention.
Case Report: Haploidentical Bone Marrow Transplantation in Two Brothers With Wiskott-Aldrich Syndrome Using Their Father as the Donor
Authors: Jasmine Smith, Jessica Hass Alfonso, Naresh Reddivalla, Pablo Angulo, Emmanuel Katsanis
Journal: Front Pediatr (2021)
Keywords: wiskott aldrich syndrome (was), cyclophosphamide, haploidentical hematopoietic stem cell transplantation, immunodeficiency, myeloablative allogeneic hematopoietic cell transplantation
MeSH terms: Case Reports

Wiskott-Aldrich syndrome (WAS) is an X-linked genetic disorder with a variable phenotypic expression that includes thrombocytopenia, eczema, and immunodeficiency. Some patients may also exhibit autoimmune manifestations. Patients with WAS are at increased risk of developing malignancies such as lymphoma. Allogeneic hematopoietic cell transplantation remains the only curative treatment. Haploidentical bone marrow transplantation (haplo-BMT) with post-transplant cyclophosphamide (PT-CY) has more recently been applied in WAS. Here, we report two brothers who underwent successful T-cell replete haplo-BMT with PT-CY at ages 9 months and 4 years using their father as the donor. Our myeloablative regimen was well-tolerated with minimal organ toxicity and no acute or chronic graft vs. host disease (GvHD). Haplo-BMT may be considered as a safe and effective option for patients with WAS who do not have available human leukocyte antigen (HLA) matched donors.
Pancreatic lipoma: a pancreatic incidentaloma; diagnosis with ultrasound, computed tomography and magnetic resonance imaging
Authors: Suhas Aithal Sitharama, Manju Bashini, Kannan Gunasekaran, Deepak Barathi Subramania
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Pancreatic lipomas are rare. We present a case of incidentally discovered pancreatic lipoma in a 45-year-old female suffering from metastatic ovarian carcinoma who was referred to radiology for follow-up imaging. Fat-containing tumours originating from the pancreas are very rare. Most lipomasshow characteristic features on imaging that allow their differentiation. In most cases, accurate diagnosis is attained without any histopathological confirmation. We present the imaging features of pancreatic lipoma on ultrasound, CT scan and MRI, the differential diagnosis and a brief review of the literature.
Paradoxical emboli secondary to hepatic pathology: common or coincidental?
Authors: Patrik Gabikian, Melanie Walker, Abhineet M Chowdhary, Arthur M Lam, Gavin W Britz
Journal: Case Rep Med (2009)
MeSH terms: Case Reports

Paradoxical cerebral emboli from cardiac and pulmonary sources are well described in the peer-reviewed literature. We outline a case with a hepatic etiology and describe diagnostic and management options. Though this paper represents the first documentation of such, we believe that transpulmonary shunting with concurrent paradoxical cerebral microemboli is more prevalent than recognized. We introduce this case report to compel practitioners to consider paradoxical emboli in selected cirrhotic patients since it can often be difficult to elicit subtle neurologic changes on clinical examination of patients with end stage liver disease.
Urachal Tumor: A Case Report of an Extremely Rare Carcinoma
Authors: José Palla Garcia, Rita Sampaio, Carlos Peixoto
Journal: Case Rep Pathol (2017)
MeSH terms: Case Reports

The urachus is a tubular structure that connects the bladder to the allantois in the embryonic development, involuting after the third trimester. The urachus carcinoma is an extremely rare tumor that accounts for <1% of all bladder cancers. We report a case of a 46-year-old woman, with no past medical history, complaining of hematuria with 6-month duration and a physical exam and an abdominal computed topographic scan revealing an exophytic mass of 6.8 cm longer axis that grew depending on the anterior bladder wall, invading the anterior abdominal wall. Cystoscopy detected mucosal erosion. The biopsy showed structures of adenocarcinoma of enteric type. The surgical specimen showed urachus adenocarcinoma of enteric type with stage IVA in the Sheldon system and stage III in the Mayo system. This case has a 3-year follow-up without disease recurrence.
A 13-Year-Old with Coexistence of Gastric Volvulus and Leprosy: A Case Report of Two Rare Entities
Authors: Joanna Schneider, Rhett Mays
Journal: Case Rep Infect Dis (2018)
MeSH terms: Case Reports

Leprosy, or Hansen's disease, is caused by infection with Mycobacterium leprae. It is a rare diagnosis within the continental United States. We present the case of a 13-year-old immigrant from the Marshall Islands who presented with recurrent nausea, vomiting, and abdominal pain which are found to be due to intermittent gastric volvulus. Gastric volvulus is also exceedingly rare, with less than 8 pediatric cases on average per year. During her second hospitalization for recurrent acute gastrointestinal issues, nonspecific skin lesions were biopsied, revealing infection with M. leprae. The patient did not exhibit classic symptoms of leprosy but did have prominent skin changes including diffuse nodules. This case explores the pathophysiology connecting leprosy to volvulus, discussing the possible role of an inflammatory response to infection in causing gastric volvulus. The finding of lepromatous leprosy may have been unrelated but was fortuitous, as early intervention will result in avoidance of debilitating peripheral neuropathy and eventual disfiguration from Hansen's disease. This case highlights the importance of considering rare causes of gastric outlet obstruction including gastric volvulus and of considering leprosy in the differential for patients with unusual skin lesions or paresthesias who have a history of living or traveling in endemic areas.