OpenMed/multicare-articles huggingface dataset:
Advanced gastric cancer with metachronous intracranial oligometastases without recurrence after multidisciplinary team discussion and comprehensive treatment: a case report
Authors: Lijuan Shao, Hongyu Zhang, Wenting He, Jun Wu, Danxia Zhu, Haibo Cheng
Journal: Front Oncol (2023)
Keywords: gastric adenocarcinoma, metastasectomy, multidisciplinary team, neuroendocrine differentiation, oligometastasis, pembrolizumab
MeSH terms: Case Reports

This article describes the process of multidisciplinary team (MDT) discussion and comprehensive treatment of a case of advanced gastric cancer that tested positive for programmed death ligand 1 (PD-L1). During diagnosis, the patient presented with advanced gastric cancer and numerous unresectable metastases in the lesser omental lymph nodes, both lungs, liver, and left parietal occipital lobe. A meeting was arranged for the departments of oncology, gastrointestinal surgery, radiotherapy, imaging, and pathology to discuss the case. Initially, the patient had a partial response to the first-line treatment, which was a combination of pembrolizumab and chemotherapy. However, after nineteen months, the patient presented with a metachronous isolated lesion in the left frontal lobe. After mutual agreement among the oncology, brain surgery, gastrointestinal surgery, radiotherapy, imaging, and pathology departments, the intracranial lesion underwent resection. Following this, the operation was supplemented by stereotactic radiation therapy (SRT) and whole-brain radiation therapy (WBRT). The patient showed excellent signs of recovery after the operation, and her general condition remained favorable after 16 months of follow-up. Nonetheless, the outlook for patients facing advanced-stage gastric cancer remains distressing. Through multidisciplinary team (MDT) discussions, patients diagnosed with advanced gastric cancer can receive standardized diagnostic and treatment approaches to develop reasonable and personalized comprehensive treatment plans. Such plans help to improve the quality of life of patients and effectively prolong their survival time.
Case Report: Identification of a CARD8 variant in all three patients with PFAPA syndrome complicated with Kawasaki disease
Authors: Haruhiko Nakamura, Atsuo Kikuchi, Hideyuki Sakai, Miki Kamimura, Yohei Watanabe, Ryoichi Onuma, Jun Takayama, Gen Tamiya, Yoichi Mashimo, Ryota Ebata, Hiromichi Hamada, Tomohiro Suenaga, Yoshihiro Onouchi, Satoru Kumaki
Journal: Front Pediatr (2024)
Keywords: card8, kawasaki disease, nlrp3, pfapa syndrome, inflammasome, inflammatory dysregulation
MeSH terms: Case Reports

Background:
Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA syndrome), and Kawasaki disease (KD) are both considered to be disorders of the innate immune system, and the potential role of inflammasome activation in the immunopathogenesis of both diseases has been previously described.
Case presentation:
Herein, we report the clinical courses of three patients who presented a rare combination of PFAPA syndrome and KD. Two patients who presented KD later developed the PFAPA syndrome, of whom one developed recurrent KD 2 years after the initial diagnosis. The third patient developed KD one year after the onset of PFAPA syndrome. The presence of both of these conditions within individual patients, combined with the knowledge that inflammasome activation is involved in both PFAPA syndrome and KD, suggests a shared background of inflammatory dysregulation. To elucidate the mechanism underlying shared inflammatory dysregulation, we investigated the roles of Nod-like receptors (NLRs) and their downstream inflammasome-related genes. All the patients had a frameshift variant in CARD8 (CARD8-FS). A previous study demonstrated a higher frequency of CARD8-FS, whose product loses CARD8 activity and activates the NLRP3 inflammasome, in patients with the PFAPA syndrome. Additionally, the NLRP3 inflammasome is known to be activated in patients with KD. Together, these results suggest that the CARD8-FS variant may also be essential in KD pathogenesis. As such, we analyzed the CARD8 variants among patients with KD. However, we found no difference in the variant frequency between patients with KD and the general Japanese population.
Conclusions:
We report the clinical courses of three patients with a rare combination of PFAPA syndrome and KD. All the patients had the CARD8-FS variant. However, we could not find a difference in the variant frequency between patients with KD and the general Japanese population. As the frequency of KD is much higher than that of PFAPA among Japanese patients, and the cause of KD is multifactorial, it is possible that only a small portion of patients with KD harbor CARD8-FS as a causative gene.
IgM kappa proliferative glomerulonephritis with monoclonal immunoglobulin deposition complicated with nocardiosis dermatitis: a case report and review of literature
Authors: Kebao Chen, Yue Wang, Jinyu Yu, Xueyao Wang, Zhonggao Xu, Yanbo Li, Weixia Sun
Journal: Front Med (Lausanne) (2024)
Keywords: igm kappa, mgrs, monoclonal immunoglobulin deposition, nocardiosis dermatitis, proliferative glomerulonephritis
MeSH terms: Case Reports

Rationale:
Monoclonal gammopathy of renal significance (MGRS) represents a group of disorders caused by monoclonal immunoglobulin (M protein) secreted by B cells or plasma cells. Proliferative glomerulonephritis with monoclonal immunoglobulin deposition (PGNMID) is a glomerular disease and a form of MGRS. Here, we presented a rare case of a patient with IgM kappa PGNMID complicated with nocardiosis dermatitis.
Patient concerns and diagnoses:
A 56-year-old man was admitted to the hospital because of cutaneous purpura and proteinuria. His initial pathological diagnosis indicated membranous proliferative glomerulonephritis, IgM(++), and subacute interstitial nephritis. Based on further examination, he was finally diagnosed to have IgM kappa PGNMID and subacute interstitial nephritis. After the initial diagnosis, the patient received hormonal therapy. During the treatment, nocardiosis dermatitis emerged as a complication, and the hormonal therapy was gradually reduced. The patient refused further treatment with rituximab, and his health is currently stable.
Outcomes:
IgM kappa PGNMID complicated with nocardiosis dermatitis is an extremely rare occurrence. Laboratory examination and pathological analysis are required to confirm the diagnosis of this disorder. Timely and accurate diagnosis is essential for the appropriate treatment of PGNMID.
Case report: Neonatal-onset inflammatory bowel disease due to novel compound heterozygous mutations in DUOX2
Authors: Andrea Finocchi, Lucia Pacillo, Maria Chiriaco, Gigliola Di Matteo, Paola Francalanci, Giulia Angelino, Tamara Caldaro, Beatrice Rivalta, Maurice O'Mara, Suisheng Zhang, Francesca Romana Lepri, Antonio Novelli, Paola De Angelis, Ulla G Knaus, Francesca Rea
Journal: Front Genet (2023)
Keywords: duox2, nadph oxidase, veo-ibd, inflammatory bowel disease, neonatal-ibd
MeSH terms: Case Reports

Very Early Onset Inflammatory Bowel Disease (VEO-IBD) is potentially associated with genetic disorders of the intestinal epithelial barrier or inborn errors of immunity (IEI). Dual oxidase 2 (DUOX2), an H2O2-producing NADPH oxidase expressed at apical enterocyte membranes, plays a crucial role in innate defense response. Biallelic DUOX2 mutations have been described only in two patients with VEO-IBD to date. We report the case of a 1-month-old female infant who presented persistent high C-reactive protein (CRP) levels from birth and anemia. Positive occult blood and very high calprotectin in the stool were detected and abdominal ultrasound showed thickened last ileal loop. Full endoscopy evaluation revealed important colon stenosis with multiple pseudo-polyploidy formations that resulted refractory to steroid therapy, requiring a partial colic resection. Histological examination of biopsy samples showed morphological features of IBD. Whole Exome Sequencing (WES) disclosed compound heterozygous variants in the DUOX2 gene: the pathogenic c.2524C>T; p.Arg842Ter and the variant of uncertain significance (VUS) c.3175C>T; p.Arg1059Cys. Molecular and functional studies showed the presence of mutant DUOX2 in the intestinal epithelium of the patient, albeit with at least 50% decreased catalytic activity. In conclusion, we describe the third patient to date with compound heterozygous variants of DUOX2, responsible for monogenic neonatal-IBD. This case expands the knowledge about Mendelian causes of VEO-IBD and DUOX2 deficiency. We suggest that DUOX2 should be part of the diagnostic evaluation of patients with suspected monogenic VEO-IBD.
Phloroglucinol-Induced Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS) Syndrome with Subsequent Fulminant Type 1 Diabetes (FT1D): A Rare Case and Literature Review
Authors: Chengbei Bao, Zequn Tong, Qiuyun Xu, Zhixun Xiao, Bo Cheng, Ting Gong, Chao Ji
Journal: Case Rep Dermatol Med (2024)
MeSH terms: Case Reports

This study reported a woman with drug reaction with eosinophilia and systemic symptom (DRESS) syndrome induced by phloroglucinol who developed fulminant type 1 diabetes as sequelae. The literature review emphasized the necessity of at least seven months of follow-up for better management of DRESS syndrome.
Case Report: A 42-year-old male with IABP developing multiple organ embolism and intestinal necrosis
Authors: Wanying Yang, Jing Lu, Ting Du, Lulin Sha, Wei Wang, Xin Wang, Qian Gong
Journal: Front Cardiovasc Med (2024)
Keywords: acute myocardial infarction, complication, intestinal necrosis, intra-aortic balloon pump (iabp), multiorgan embolism
MeSH terms: Case Reports

We report a 42-year-old male patient who was diagnosed with acute myocardial infarction (AMI), and subsequently underwent percutaneous coronary intervention (PCI) for revascularization. The patient was transferred to the cardiac intensive care unit for intra-aortic balloon pump (IABP) due to frequent malignant arrhythmia after PCI. Then the patient experienced the most severe complications of IABP, including multiple organ embolism and intestinal necrosis. This report highlights the rare serious complications of IABP and the challenges encountered in handling this complex case.
Multiple copy number variation in a patient with Kleefstra syndrome
Authors: Thomas Nohama Lee, Henrique El Laden Rechetello, João Batista De Arêa Lima Júnior, João Pedro Fagoti Ferraz Cornelio, Naiara Bozza Pegoraro, Salmo Raskin, Liya Regina Mikami
Journal: Rev Paul Pediatr (2023)
MeSH terms: Cysts, DNA Copy Number Variations, Case Reports, Child, Preschool, Comparative Genomic Hybridization, Heterozygote, Humans, Male, Kleefstra Syndrome

Objective:
To report a rare case of a patient with a molecular diagnosis of Kleefstra syndrome (KS) who has four other chromosomal alterations involving pathogenic variants.
Case description:
Male patient, two years old, with global delay, including in neuropsychomotor development, ocular hypertelorism, broad forehead, brachycephaly, hypotonia, ligament laxity, unilateral single palmar crease and arachnoid cyst. The microarray-based comparative genomic hybridization (a-CGH) identified copy number variations (CNVs) in five regions: 9q34.3, 6p22.1, Yq11.223, Yp11.23, and 2q24.1. The heterozygous microdeletion in 9q34.3 involving the EHMT1 gene confirms the diagnosis of KS.
Comments:
The presence of pathogenic CNVs and/or those of uncertain significance, located on chromosomes 2, 6 and Y, may be contributing to a variability in the patient's clinical condition (arachnoid cyst, single palmar fold and ligament laxity), compared to other individuals with only KS genetic alteration, making the dignosis of the disease harder.
IgG4-related disease with nasopharyngeal malignancy-like manifestations
Authors: Xijun Lin, Peiliang Lin, Jianming Fan, Biying Zhang, Faya Liang, Ping Han, Xiang Liu, Xiaoming Huang
Journal: Front Immunol (2024)
Keywords: epstein-barr virus (ebv), igg4-related disease, case series, diagnosis, nasopharyngeal mass
MeSH terms: Immunoglobulin G / blood, Immunoglobulin G / immunology, Immunoglobulin G4-Related Disease / diagnosis, Immunoglobulin G4-Related Disease / immunology, Nasopharyngeal Neoplasms / diagnosis, Nasopharyngeal Neoplasms / immunology, Case Reports, Diagnosis, Differential, Female, Humans, Male, Middle Aged, Nasopharyngeal Carcinoma / diagnosis, Nasopharyngeal Carcinoma / immunology, Plasma Cells / immunology, Immunoglobulin G

Background:
IgG4-related disease (IgG4-RD) was characterized by single or multiple masses in organs, which may mimic various inflammatory and malignant diseases. Here, we summarize 4 patients with aggressive manifestations of IgG4-RD that mimic nasopharynx cancer to provide some new sights for the diagnosis of IgG4-RD.
Case summary:
Four patients were included in our series. The age ranged from 53 to 64 years old, and the duration of the disease ranged from 4 to 6 months. The chief complaints included headache, rhinorrhea, or diplopia. All patients had more than 10 IgG4+ plasma cells/HPF in immunohistochemistry with plasma lgG4 levels ranging from 218 mg/dL to 765 mg/dL. All of them met the diagnostic criteria of lgG4-RD.
Conclusion:
The described case is highly similar to the clinical manifestations of nasopharyngeal carcinoma. Although pathology is the gold standard, there are still limitations. Serological IgG4 can help confirm the diagnosis. Timely diagnosis of IgG4-RD is of great significance in preventing secondary organ damage in patients with active diseases.
Primary Ewing's sarcoma of the intestine: case report and literature review
Authors: Baofa Luo, Wei Gao, Ting Li, Xinran Yu, Fei Guo
Journal: Front Oncol (2024)
Keywords: case report, clinical manifestations, extraosseous ewing’s sarcoma, imaging features, primitive intestine sarcoma
MeSH terms: Case Reports

Ewing sarcoma (ES)/peripheral primitive neuroectodermal tumor is a highly aggressive malignant tumor that typically presents in bone and soft tissue. Primary ES of the intestine is relatively rare, which poses a challenge in distinguishing it from other primary tumors of the small intestine through imaging. This article details a case study of ES originating in the intestine. Computed tomography (CT) imaging suggested a small intestinal stromal tumor, and so the patient underwent resection of the small bowel and omental tumor. Pathology results confirmed the diagnosis of ES of the small intestine. Following surgery, the patient underwent six cycles of chemotherapy, and a follow-up positron emission tomography-CT revealed widespread dissemination of the disease with intraperitoneal metastasis, ultimately resulting in the death of the patient.
Peritoneal carcinomatosis with desmoplasia and osseous metaplasia mimicking encapsulating peritoneal sclerosis in a cat: case report
Authors: So-Jeong Nam, Sun-Hye Song, Seung-Hyun Lee, So-Young Jeung, Jae Gon Ah, Su-Hyung Lee, Min-Ok Ryu
Journal: Front Vet Sci (2023)
Keywords: calcification, case report, encapsulated peritoneal sclerosis, feline, peritoneal carcinomatosis
MeSH terms: Case Reports

A 13-year-old neutered male Korean short-hair cat presented with anorexia, lethargy, and a severely distended abdomen, suggestive of ascites. Abdominocentesis yielded serosanguineous fluid. A subsequent diagnostic workup, including blood tests, ascitic fluid analysis, imaging studies [radiography, ultrasound, and computed tomography (CT)], and histopathological examination, was performed to identify the underlying cause. Imaging studies revealed characteristics of encapsulating peritoneal sclerosis (EPS) such as peritoneal thickening, fat stranding, and calcification. During laparotomy, fibrous membranes encapsulating the abdominal organs and ascites were observed, and multiple calcified regions were detected on the abdominal wall. Histopathological analysis confirmed the diagnosis of poorly differentiated invasive malignant neoplasms, which were further classified as carcinomatosis based on positive cytokeratin and negative vimentin immunohistochemistry results. To our knowledge, this is the first report of sclerosing peritoneal carcinomatosis with osseous metaplasia in a cat.
Systemic Lupus Erythematosus Presenting as Cardiac Tamponade and Pleural Effusion: A Case Report
Authors: Alhareth M Amro, Salah Deeb, Rama Rije, Nour Deeb, Yaman Y Qunaibi, Bajis Amr, Khaled Irzeqat, Baha Alhadad, Ahmad Emar
Journal: Cureus (2024)
Keywords: cardiac complications, impending pericardial effusion, pericardial tamponade, pleural effusion, systemic lupus erythematosus
MeSH terms: Case Reports

Systemic lupus erythematosus (SLE) is a chronic inflammatory disease that can affect the heart, lungs, and other organs. We describe the case of a 36-year-old female patient who first presented with non-specific symptoms before receiving a diagnosis of SLE, along with initial evidence of pleural effusion and cardiac tamponade. Heart tamponade, which is characterized by fluid accumulation in the pericardial space, is an unusual but serious side effect of SLE. Pleural effusion, or an accumulation of fluid in the pleural cavity, is a typical hallmark of SLE; however, it rarely manifests as the disease's initial symptom. The early identification and diagnosis of these cardiovascular symptoms of SLE is critical for timely intervention and improved patient outcomes. This case report highlights the significance of considering SLE when performing a differential diagnosis for patients who have cardiovascular symptoms, particularly when pleural effusion and cardiac tamponade are present. To increase awareness and knowledge of these uncommon presentations of SLE, more investigations and comprehension of the underlying pathophysiology are required.
Remission of relapsed/refractory classical Hodgkin lymphoma induced by brentuximab vedotin and pembrolizumab combination after allogeneic hematopoietic stem cell transplantation: a case report
Authors: Federica Giannotti, Carmen De Ramon Ortiz, Federico Simonetta, Sarah Morin, Chiara Bernardi, Stavroula Masouridi-Levrat, Yves Chalandon, Anne-Claire Mamez
Journal: Front Immunol (2024)
Keywords: dli, hodgkin lymphoma, brentuximab-vedotin, haploidentical allogeneic stem cell transplant, pembrolizumab
MeSH terms: Antibodies, Monoclonal, Humanized, Graft vs Host Disease / drug therapy, Graft vs Host Disease / etiology, Hematopoietic Stem Cell Transplantation / adverse effects, Hodgkin Disease / drug therapy, Case Reports, Brentuximab Vedotin / therapeutic use, Humans, Neoplasm Recurrence, Local / drug therapy, Programmed Cell Death 1 Receptor, Brentuximab Vedotin, pembrolizumab, Programmed Cell Death 1 Receptor, Antibodies, Monoclonal, Humanized

Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is a potentially curative treatment option for patients with highly chemorefractory Hodgkin lymphoma (HL). The CD30-targeting antibody-drug conjugate Brentuximab-Vedotin (BV) and programmed cell death protein-1 (PD-1) blocking agents have demonstrated clinical activity with durable responses in relapsed/refractory (r/r) HL. However, patients with a history of allo-HSCT were frequently excluded from clinical trials due to concerns about the risk of graft-versus-host disease (GVHD). We report the clinical history of a patient with refractory classical HL who underwent two allo-HSCTs (first from matched unrelated and second from haploidentical donor) after relapsing on BV and nivolumab and for whom durable remission was finally obtained using BV-pembrolizumab combination for relapse after haploidentical HSCT. Such treatment was associated with the onset of GVHD after only two cycles which led to treatment discontinuation. However, the side effects were rapidly controlled, and after 2 years of follow-up, the patient is still in remission. Our data support the feasibility and efficacy of combining PD-1 blockade with BV to enhance the graft-versus-lymphoma effect after allo-HSCT.
Nystagmus and Abducens Nerve Palsy as an Early Presentation of Non-alcoholic Wernicke Encephalopathy
Authors: Siti Hajar Darussalam, Muhammad Mohd Isa, Rafidah Md Saleh, Adzleen Mohmood, Amirah Mohammad Razali
Journal: Cureus (2024)
Keywords: nystagmus, ophthalmoplegia, thiamine, vitamin b1 deficiency, wernicke encephalopathy
MeSH terms: Case Reports

Wernicke encephalopathy (WE) is a rare but life-threatening syndrome that is commonly associated with chronic alcoholism. It has also been found to be associated with malnutrition, prolonged parenteral nutrition, hemodialysis, hyperemesis gravidarum, gastroplasty, and AIDS. It usually presents as a clinical triad of confusion, ophthalmoplegia, and gait ataxia. Nystagmus is usually the most common and earliest ophthalmologic sign. We report a case of non-alcoholic WE in a patient who had prior bariatric surgery and was treated for malnutrition and sepsis, with nystagmus being the initial presentation. The MRI of the brain was normal. The diagnosis of WE was made clinically and was supported by the patient's symptomatic and clinical recovery following intravenous thiamine treatment. It is essential to highlight that a high level of suspicion is needed to diagnose non-alcoholic WE to allow the commencement of appropriate treatment and reduce morbidity and mortality rates related to this condition.
Contribution of advanced neuroimaging in diagnosis of cerebral syphilitic gumma: a case report
Authors: Xinyi Shen, Zhengyang Zhu, Xin Li, Wen Zhang, Xin Zhang, Bing Zhang
Journal: Front Neurosci (2024)
Keywords: advanced neuroimaging, case report, cerebral syphilitic gumma, intracranial neoplasm, magnetic resonance imaging
MeSH terms: Case Reports

Background:
Cerebral syphilitic gumma is a rare intracranial infectious disorder. Without a clear history of syphilis and comprehensive serological examinations, it's challenging to diagnose it accurately prior to surgery through routine magnetic resonance imaging (MRI). Advanced neuroimaging techniques have been widely used in diagnosing brain tumors, yet there's limited report on their application in cerebral syphilitic gumma. This report presents a case of an elderly male patient with cerebral syphilitic gumma and analyzes its characteristics of advanced neuroimaging.
Case presentation:
A 68-year-old male patient was admitted to our institution presenting with bilateral hearing loss complicated with continuing headaches without obvious cause. Laboratory tests indicated positive treponema pallidum. Conventional MRI showed nodules closely related to the adjacent meninges in bilateral temporal lobes. The patient underwent surgical resection of the nodule in the right temporal lobe due to the mass effect and the final pathological diagnosis revealed cerebral syphilitic gumma.
Conclusions:
With the return of syphilis in recent years, accurate diagnosis of cerebral syphilitic gumma is a matter of great urgency. Advanced neuro-MRI can serve as a significant complement to conventional MRI examination.