OpenMed/multicare-articles huggingface dataset:
POCUS Finding of Portal Venous Gas: An Unusual Consequence of an Amyloid Dysmotility Related Bezoar
Authors: Grace B DeMarco, Qiuchen Jiang, Ernest A Fischer
Journal: POCUS J (2022)
Keywords: pocus, portal gas
MeSH terms: Case Reports

A 73-year-old male with a recent finding of pericardial effusion and syncope was evaluated with point of care ultrasound for recurrent effusion. A thickened left ventricle and recurrent pericardial effusion were found. Unexpectedly, on scanning the inferior vena cava (IVC), extensive portal venous gas was identified, a finding previously described as a "meteor shower". Subsequent imaging by computed tomography (CT) identified gastric edema and peri-gastric vessel gas as the source of the portal gas, attributed to a large bezoar. The bezoar was later classified as a phytobezoar and the patient was found to have both cardiac and gastrointestinal manifestations of light chain amyloidosis. The gastrointestinal amyloidosis predisposed the patient to bezoar formation owing to associated dysmotility, a rare complication of an unusual manifestation of systemic amyloid.
Case Report: Sirolimus Alleviates Persistent Cytopenia After CD19 CAR-T-Cell Therapy
Authors: Limin Xing, Yihao Wang, Hui Liu, Shan Gao, Qing Shao, Lanzhu Yue, Zhaoyun Liu, Huaquan Wang, Zonghong Shao, Rong Fu
Journal: Front Oncol (2021)
Keywords: cd19, chimeric antigen receptor t cell, cytopenia, diffuse large b-cell lymphoma, sirolimus
MeSH terms: Case Reports

Chimeric antigen receptor T (CAR-T) cells show good efficacy in the treatment of relapsed and refractory B-cell tumors, such as acute B-cell leukemia (ALL) and diffuse large B-cell lymphoma (DLBCL). The main toxicities of CAR-T include cytokine release syndrome, immune effector cell-associated neurotoxicity syndrome, cytopenia, and severe infection. It is still very difficult for CAR-T to kill tumor cells to the maximum extent and avoid damaging normal organs. Here, we report a case of DLBCL with persistent grade 4 thrombocytopenia and severe platelet transfusion dependence treated with CD19 CAR-T cells. We used sirolimus to inhibit the sustained activation of CAR-T cells and restore normal bone marrow hematopoiesis and peripheral blood cells. Moreover, sirolimus treatment did not affect the short-term efficacy of CAR-T cells, and DLBCL was in complete remission at the end of follow-up. In conclusion, sirolimus can represent a new strategy for the management of CAR-T cell therapy-related toxicity, including but not limited to hematotoxicity. However, further controlled clinical studies are required to confirm these findings.
Case Report: Complete and Fast Recovery From Severe COVID-19 in a Pemphigus Patient Treated With Rituximab
Authors: Jo Linda Sinagra, Claudio Vedovelli, Raffaella Binazzi, Adele Salemme, Francesco Moro, Cinzia Mazzanti, Biagio Didona, Giovanni Di Zenzo
Journal: Front Immunol (2021)
Keywords: b cell, covid-19, autoimmune blistering disease, immunosuppression, pemphigus, rituximab
MeSH terms: Adrenal Cortex Hormones / therapeutic use, B-Lymphocytes / immunology, COVID-19 Drug Treatment, Pemphigus / immunology, Rituximab / adverse effects, Case Reports, Research Support, Non-U.S. Gov't, Adrenal Cortex Hormones / adverse effects, B-Lymphocytes / metabolism, COVID-19 / complications, COVID-19 / physiopathology, Female, Fever, Humans, Immunoglobulin G / immunology, Inflammation / drug therapy, Middle Aged, Oxygen Inhalation Therapy, Pemphigus / complications, Pemphigus / drug therapy, Rituximab / therapeutic use, Adrenal Cortex Hormones, Immunoglobulin G, Rituximab

COVID-19 is characterized by a severe pulmonary disease due to severe acute respiratory syndrome (SARS)-CoV-2 infection. For clinicians involved in the management of patients with chronic autoimmune diseases the risk linked to the conditions itself and to drug-induced immunosuppression during the COVID-19 pandemic is a major topic. Pemphigus is a rare autoimmune blistering disease (AIBD) of the skin and mucous membranes caused by autoantibodies to desmosomal components, desmoglein 1 and 3. Among immunosuppressant therapies, rituximab (RTX) is considered a highly effective treatment with a favorable safety profile, but it induces a prolonged B-cell depletion that can lead to higher susceptibility to infections. For this reason, concerns about its use during the pandemic have been raised. We describe a case of a pemphigus patient in which RTX-induced B cell depletion led to the severe inflammatory phase, whereas corticosteroid treatment allowed a favorable outcome.
Case Report: Effective Treatment With Pyrotinib and Capecitabine in a Heavily Pretreated Locally Advanced Breast Cancer Harboring Both HER2 Overexpression and Mutant
Authors: Zhichao Gao, Junnan Xu, Yan Wang, Jie Wu, Tao Sun
Journal: Front Oncol (2021)
Keywords: erbb2 mutant, her2 positive, l775s, breast cancer, pyrotinib
MeSH terms: Case Reports

The prognosis for female patients with locally advanced breast cancer (LABC) has improved with the emergence of novel drugs, especially for those who have HER2 overexpression or ERBB-2 amplification. Trastuzumab-based regimen has been the paradigm in guidelines as first-line therapy, whereas many patients got progressive disease after several cycles of treatment or rapidly progress because of primary resistance. Point mutations of ERBB2 gene occur in both HER2-amplication and non-amplification patients, with a 2% ratio in HER2 non-amplification cohort and 1.48% in HER2 amplication population. The acquired mutation ratio of ERBB2 substantially raised to 16.7%-17.7% in patients prior to trastuzumab treatment. ERBB2 mutation may be a critical reason of resistance and disease progression among the patients treated with anti-HER2 monoclonal trastuzumab or dual anti-HER2 antibodies with trastuzumab and pertuzumab, or tyrosine-kinase inhibitor. ERBB-2 mutation with L755S and V842I indicates resistance to trastuzumab, while that with L755S and K753I indicates resistance to lapatinib; these mutations maybe sensitive to pan-HER tyrosine-kinase inhibitors. A 48-year woman diagnosed with HER2-positive LABC developed trastuzumab resistance after three lines of trastuzumab cross-line treatment with partial response (PR) as the best response. The tissue was performed by next-generation sequencing (NGS), and the results discovered L755S in ERBB2 gene. Then, she received effective treatment with pyrotinib plus capecitabine and underwent mastectomy after six cycles of combined treatment with PR. Subsequently, breast mastectomy was performed, and she took pyrotinib plus capecitabine for 1 year and pyrotinib monotherapy for another 1 year as adjuvant therapy and achieved a long-term clinical benefit. In conclusion, pyrotinib is a potential neoadjuvant agent for patients who are heavily pretreated and harbor both ERBB2 amplification and ERBB2 mutant in locally advanced breast cancer.
Malignant Gastrointestinal Neuroectodermal Tumor in the Right Heart: A Report of an Extremely Rare Case Presenting With a Cardiac Mass
Authors: Zhiwen Li, Xiaohong Pu, Lu He, Yao Fu, Lin Li, Yuemei Xu, Wenyan Guan, Xiangshan Fan
Journal: Front Cardiovasc Med (2021)
Keywords: ewsr1-atf1, cardiac malignancy, case report, extra-gastrointestinal, malignant gastrointestinal neuroectodermal tumor
MeSH terms: Case Reports

Malignant gastrointestinal neuroectodermal tumor (GNET) is an extremely rare soft tissue sarcoma and has been designated as a new entity recently. At present, GNET virtually exclusively occurs in the gastrointestinal tract. Here we report a case of extra-GNET that arose in the right heart. A 62-year-old male complained of chest distress and breathing difficulty while lying down at night for over 1 month at admission. The radiological findings revealed an occupying lesion involving the right atrium and the right ventricle without any abdominal abnormalities. The patient then underwent a surgical resection. Microscopically, neoplastic cells proliferated in the pattern of nests and sheets with fibrous separation. Focal areas with cellular dyscohesion imparted a vague pseudopapillary pattern. These tumor cells were small to medium in size with fine chromatin and predominantly pale eosinophilic cytoplasm. The nuclei were typically round to oval with somewhat irregular contours and contained small nucleoli. The mitotic figures were easily found. Immunohistochemically, the neoplastic cells were positive for S100 and SOX-10 but negative for HMB-45, A103, and CD99. EWSR1-AFTF1 rearrangement was detected by fluorescence in situ hybridization and further confirmed by whole-transcriptome sequence analysis. The patient had pulmonary metastasis 8 months later and soon died of the disease. The overall survival of the patient was 20 months. In summary, we reported an extremely rare case of cardiac GNET, indicating that the location of GNET should not be confined to the GI tract as initially defined. Due to the lack of a specific effective treatment and the occurrence of early metastasis, cardiac GNET conferred a poor prognosis. More clinical and experimental studies are warranted to better manage this disease in the future.
Clostridium sordelli causing malignant edema in a trauma patient: a case report and review of literature
Authors: Sanjiv Fitz-Morris Gray, Beatrice Esther Dieudonne
Journal: Pan Afr Med J (2018)
Keywords: sordelli, clostridium, malignant edema
MeSH terms: Clostridium Infections / diagnosis, Clostridium sordellii / isolation & purification, Edema / microbiology, Facial Injuries / complications, Case Reports, Review, Clostridium Infections / etiology, Clostridium Infections / physiopathology, Facial Injuries / microbiology, Humans, Male, Middle Aged, Soil Microbiology

Clostridium sordelli infection is a rare but potentially lethal infection associated with abortions, injury, contaminated wounds, and illicit drug use. It causes a recognizable syndrome with marked leukocytosis. Rapid diagnosis and aggressive sepsis management is required for optimal outcome. We report a case in a trauma patient with delayed presentation after sustaining facial trauma with soil contamination. The critical care management is summarized and a review of the literature.
Targeted sequencing identifies a novel SH2D1A pathogenic variant in a Chinese family: Carrier screening and prenatal genetic testing
Authors: Jun-Yu Zhang, Song-Chang Chen, Yi-Yao Chen, Shu-Yuan Li, Lan-Lan Zhang, Ying-Hua Shen, Chun-Xin Chang, Yu-Qian Xiang, He-Feng Huang, Chen-Ming Xu
Journal: PLoS One (2017)
MeSH terms: Frameshift Mutation, Lymphoproliferative Disorders / genetics, Signaling Lymphocytic Activation Molecule Associated Protein / genetics, Case Reports, Adult, Female, Genetic Testing, High-Throughput Nucleotide Sequencing, Humans, Male, Mutation, Nonsense Mediated mRNA Decay, Pedigree, Pregnancy, Prenatal Diagnosis, RNA, Messenger / genetics, RNA, Messenger, SH2D1A protein, human, Signaling Lymphocytic Activation Molecule Associated Protein

X-linked lymphoproliferative disease type 1 (XLP1) is a rare primary immunodeficiency characterized by a clinical triad consisting of severe EBV-induced hemophagocytic lymphohistiocytosis, B-cell lymphoma, and dysgammaglobulinemia. Mutations in SH2D1A gene have been revealed as the cause of XLP1. In this study, a pregnant woman with recurrence history of birthing immunodeficiency was screened for pathogenic variant because the proband sample was unavailable. We aimed to clarify the genetic diagnosis and provide prenatal testing for the family. Next-generation sequencing (NGS)-based multigene panel was used in carrier screening of the pregnant woman. Variants of immunodeficiency related genes were analyzed and prioritized. Candidate variant was verified by using Sanger sequencing. The possible influence of the identified variant was evaluated through RNA assay. Amniocentesis, karyotyping, and Sanger sequencing were performed for prenatal testing. We identified a novel de novo frameshift SH2D1A pathogenic variant (c.251_255delTTTCA) in the pregnant carrier. Peripheral blood RNA assay indicated that the mutant transcript could escape nonsense-mediated mRNA decay (NMD) and might encode a C-terminal truncated protein. Information of the variant led to success prenatal diagnosis of the fetus. In conclusion, our study clarified the genetic diagnosis and altered disease prevention for a pregnant carrier of XLP1.
Metastatic Tumor of the Spermatic Cord in Adults: A Case Report and Review
Authors: Daisaku Hirano, Mizuho Ohkawa, Ryo Hasegawa, Norimichi Okada, Naoki Ishizuka, Yoshiaki Kusumi
Journal: Case Rep Urol (2015)

Metastatic spermatic cord (SC) tumor is extremely rare. Recently, we experienced a case of late-onset metastatic SC tumor from cecal cancer. This case is a 68-year-old man presenting with a painless right SC mass. He had undergone a right hemicolectomy for cecal cancer 6 years ago. Radical orchiectomy and adjuvant chemotherapy with S-1 were performed. No recurrence was found after one year of follow-up. We identified a total of 25 cases, including our case, on a literature search via PubMed from January 2000 to April 2015. The most frequent primary sites of the tumors metastasizing to the SC were the stomach (8 cases, 32%) and the colon (8 cases, 32%), next the liver (2 cases, 8%), and kidney (2 cases, 8%). The majority of the cases underwent radical orchiectomy for the metastatic tumors of the SC. Over half of the cases received adjuvant interventions based on the regimens for the primary tumors. Prognosis in the patients with metastatic tumor of the SC was unfavorable except for late-onset metastasis. In patients with a mass in the SC and a history of neoplasm, especially in gastrointestinal tract, the possibility of metastasis from the primary cancer should be considered.
Laparoscopic Common Bile Duct Exploration for Retrieval of Impacted Dormia Basket following Endoscopic Retrograde Cholangiopancreatography with Mechanical Failure: Case Report with Literature Review
Authors: J W O'Brien, R Tyler, S Shaukat, A M Harris
Journal: Case Rep Surg (2017)
MeSH terms: Case Reports

Dormia baskets are commonly used during endoscopic retrograde cholangiopancreatography (ERCP). One complication is basket retention, through impaction with a gallstone or wire fracture. We describe a case where the external handle of the basket snapped causing retained basket plus large gallstone impacted in the common bile duct (CBD). Following laparoscopic cholecystectomy, laparoscopic CBD exploration allowed direct stone fragmentation under vision with the choledochoscope. Fragments were removed using a choledochoscopic basket and Fogarty catheter, and the basket was withdrawn. Literature search identified 114 cases of retained baskets with management including shockwave lithotripsy (27%), papillary balloon dilatation (22%), open CBD exploration (11%), and one laparoscopic case.
Negative-pressure wound therapy to treat thoracic empyema with COVID-19-related persistent air leaks: A case report
Authors: Kensuke Konagaya, Hiroyuki Yamamoto, Tomoki Nishida, Tomotaka Morita, Tomoyuki Suda, Jun Isogai, Hiroyuki Murayama, Hidemitsu Ogino
Journal: Front Med (Lausanne) (2022)
Keywords: covid-19, empyema, negative-pressure wound therapy, open-window thoracostomy, persistent air leaks, pneumothorax
MeSH terms: Case Reports

The novel coronavirus disease (COVID-19) has resulted in a global pandemic. Recently, COVID-19-related pneumothorax has gained attention because of the associated prolonged hospital stay and high mortality. While most cases of pneumothorax respond well to conservative and supportive care, some cases of refractory pneumothorax with persistent air leaks (PALs) do not respond to conventional therapies. There is a lack of evidence-based management strategies to this regard. We describe the case of a 73-year-old man with COVID-19-related acute respiratory distress syndrome (ARDS) who developed delayed tension pneumothorax with PALs caused by alveolopleural fistulas. Despite chest tube drainage, autologous blood pleurodesis, and endoscopic procedures, the PALs could not be closed, and were complicated by thoracic empyema. Subsequent minimally invasive open-window thoracostomy (OWT) with vacuum-assisted closure (VAC) therapy helped successfully control the refractory PALs. Serial chest computed tomography monitoring was useful for the early detection of the pneumothorax and understanding of its temporal relationship with air-filled lung cysts. Our case provides a new perspective to the underlying cause of refractory pneumothorax with PALs, secondary to COVID-19-related ARDS, and underscores the potential of OWT with VAC therapy as a therapeutic alternative in such cases.
Gastric duplication cyst masquerading as a mucinous pancreatic cyst: case report and literature review
Authors: C E Bailey, M B Fritz, L Webb, N B Merchant, A A Parikh
Journal: Ann R Coll Surg Engl (2014)
MeSH terms: Cysts / diagnosis, Stomach / abnormalities, Stomach Diseases / diagnosis, Case Reports, Review, Adult, Cysts / surgery, Diagnosis, Differential, Endoscopic Ultrasound-Guided Fine Needle Aspiration, Female, Humans, Pancreatic Cyst / diagnosis, Pancreatic Cyst / surgery, Stomach Diseases / surgery

Gastric duplication cysts are rare cystic neoplasms that are often difficult to distinguish from other entities. We describe a healthy 44-year-old woman who presented with acute right lower quadrant abdominal and flank pain as well as chronic nausea and constipation. Her physical examination was unremarkable but contrasted computed tomography revealed a 6 cm cystic lesion between the stomach and body of the pancreas. Endoscopic ultrasonography and fluid analysis were consistent with a mucinous cyst with a markedly elevated fluid carcinoembryonic antigen level. The patient subsequently underwent a laparoscopic distal pancreatectomy, which was converted to an open procedure when the lesion was noted to be adherent to the coeliac axis. Intraoperative endoscopy revealed no abnormality. Final pathology revealed a gastric duplication cyst. The patient recovered well and was asymptomatic on follow-up. In this report, we discuss the incidence, natural history and management of this rare entity.
Neoadjuvant chemoimmunotherapy as a potential therapeutic option in NSCLC UICC stage IIIA with multilevel N2 disease
Authors: Hruy Menghesha, Fabian Doerr, Georg Schlachtenberger, Andres Amorin Estremadoyro, Karin Töpelt, Thorsten Wahlers, Khosro Hekmat, Matthias Heldwein
Journal: Respir Med Case Rep (2022)
Keywords: immunotherapy, neoadjuvant, non-small cell lung cancer, surgical therapy
MeSH terms: Case Reports

Lung Cancer is still one of the leading causes for cancer related death worldwide. The determination of an adequate therapeutic approach requests a precise staging, which contains computed tomography (CT) of the thorax, positron emission tomography computed tomography (PET-CT), cerebral magnetic resonance imaging (cMRI) and pulmonary function testing as well as the patient's opinion. In UICC stages I and II, if there is functional operability and technical resectability, the treatment of choice is primary surgery followed by adjuvant therapy depending on lymph node status, while patients in the metastatic stage IV, or with locally advanced, nonresectable disease are more likely to receive definitive chemoradiation therapy. The UICC Stage III (8th edition) combines a heterogeneous group of patients that remains the focus of discussion regarding the optimal therapeutic regimen, which ranges from primary surgical care to a neoadjuvant therapeutic approach, to definitive conservative treatment. Since March 2020, we have been treating a patient on an interdisciplinary basis who initially had a UICC stage IIIA multilevel N2 pulmonary adenocarcinoma and finally underwent successful surgery after a very good response to neoadjuvant chemoimmunotherapy. Our latest follow-up showed no evidence of recurrence. Similar to current ongoing studies our case shows, that neoadjuvant immunotherapy is a reasonable alternative to conventional neoadjuvant chemotherapy.
Microangiopathic hemolytic anemia associated with metastatic breast cancer: case report and literature review
Authors: Daisuke Takabatake, Kazuyuki Oishi
Journal: Springerplus (2016)
Keywords: breast cancer, microangiopathic hemolytic anemia (maha), thorombotic microangiopathy (tma)

Introduction:
Microangiopathic hemolytic anemia (MAHA) is a mechanical hemolytic anemia characterized by the emergence of fragmented red cells in peripheral blood. Here, we report a case of breast cancer associated with cancer-related (CR)-MAHA along with a literature review.
Case description:
The patient was a 54-year-old woman who made an emergency visit to our hospital because of low back pain, shoulder pain, visual impairment, and anemia. She was diagnosed with stage IV, ER-positive, PgR-positive, HER2-negative left breast cancer (invasive lobular carcinoma), with left axillary adenopathy, metastasis to the soft tissue of the orbital region, multiple bone metastases, pleural dissemination, and metastasis to the stomach and para-aortic lymph nodes. Chemotherapy was initiated successfully; tumor marker levels normalized and the visceral metastases almost disappeared. Hormone therapy was administered for maintenance. Two and a half years later, rapid elevation in tumor marker levels and severe anemia were noted, and fragmented red cells and poikilocytes emerged in the peripheral blood. Positron emission tomography-computed tomography and bone scintigraphy revealed multiple bone metastases, but no evidence of visceral metastasis. CR-MAHA associated with multiple bone metastases was diagnosed, and Paclitaxel chemotherapy was initiated with frequent blood transfusions. Her anemia gradually improved, with a decrease in tumor marker levels and the number of blood transfusions. Three months later, tumor marker levels increased again. Because the anemia was also exacerbated, chemotherapy was changed to eribulin. Tumor marker levels temporally decreased, and the anemia tended to improve, but 3 months later, the levels were elevated again and the anemia was exacerbated. A switch to another regimen was planned, but best supportive care was chosen instead because of rapid deterioration of liver function. The patient died a month later.
Discussion and evaluation:
CR-MAHA is thought to have a different pathologic mechanism from TTP or HUS. Although CR-MAHA is a clinical condition associated with a very poor prognosis, we consider it controllable for long period by rapid introduction of chemotherapy in many cases.
Conclusions:
CR-MAHA is a nearly oncologic emergency that medical oncologists need to be able to recognize even though it rarely occurs in breast cancer.