OpenMed/multicare-articles huggingface dataset:
SOX chemotherapy with anti-PD-1 and iNKT cell immunotherapies for stage IV gastric adenocarcinoma with liver metastases: A case report
Authors: Dezhao Li, Mei Liu, Jinhuan Wang, Jia Guo, Ningzhi Xu, Jun Lu
Journal: Front Immunol (2022)
Keywords: case report, gastric cancer, invariant natural killer t cell, multimodal therapy, pathological complete response
MeSH terms: Adenocarcinoma / pathology, Liver Neoplasms / drug therapy, Natural Killer T-Cells / pathology, Stomach Neoplasms / pathology, Case Reports, Research Support, Non-U.S. Gov't, Antineoplastic Combined Chemotherapy Protocols / therapeutic use, Humans, Immunotherapy

Gastric cancer (GC) is the fourth most common cancer worldwide, with overall 5-year survival rate of approximate 20%. Although multimodal treatments that combine surgery with chemotherapy and immunotherapy have been shown to improve survival, pathological complete response (pCR) is rare in advanced GC patients with liver metastases. Pre-clinical studies and clinical trials have demonstrated the antitumor efficacy of invariant natural killer T (iNKT) cells in various malignancies, including GC. While multimodal therapy comprised of chemotherapy, anti-programmed cell death-1 (PD-1) therapy, and iNKT cell immunotherapy have not been reported in GC patients. This case report describes the treatment of an early 60s patient diagnosed with advanced stage IVB (T1N1M1) adenocarcinomas of gastric cardia with liver metastases who received multimodal therapy comprised of SOX chemotherapy, anti-programmed cell death-1 (PD-1) therapy, and iNKT cell immunotherapy followed by surgical resection. Dramatic decreases in tumor area were observed in both the primary tumor and metastatic lesions following six cycles of SOX chemotherapy and iNKT cell immunotherapy, and four cycles of anti-PD-1 therapy. This combined treatment resulted in the transformation of a remarkably large, unresectable liver metastases into a resectable tumor, and the patient received total gastrectomy with D2 lymph node dissection and liver metastasectomy. Subsequent pathological examination detected no cancer cells in either the primary site or liver metastatic lesions, supporting the likelihood that this treatment achieved pCR. To our knowledge, this report represents the first case of a metastatic gastric cancer patient displaying pCR after six months of multimodal therapy, thus supporting that a SOX chemotherapy, anti-PD-1 therapy, and iNKT cell immunotherapy combination strategy may be effective for treating, and potentially curing, patients with advanced gastric adenocarcinoma.
Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype
Authors: Kinga Hadzsiev, Katalin Komlosi, Marta Czako, Balazs Duga, Renata Szalai, Andras Szabo, Etelka Postyeni, Titanilla Szabo, Gyorgy Kosztolanyi, Bela Melegh
Journal: Mol Cytogenet (2016)
Keywords: 9q subtelomeric deletion syndrome, drug metabolism, epilepsy, kleefstra syndrome
MeSH terms: Case Reports

Background:
Kleefstra syndrome is a rare genetic disorder, with core phenotypic features encompassing developmental delay/intellectual disability, characteristic facial features - brachy(micro)cephaly, unusual shaped eyebrows, flat face with hypertelorism, short nose with anteverted nostrils, thickened lower lip, carpmouth with macroglossia - and childhood hypotonia. Some additional symptoms are observed in different percentage of the patients. Epilepsy is common symptom as well. The underlying cause of the syndrome is a submicroscopic deletion in the chromosomal region 9q34.3 or disruption of the euchromatin histone methyl transferase 1.
Case presentation:
We describe two Hungarian Kleefstra syndrome patients, one with the classic phenotype of the syndrome, the diagnosis was confirmed by subtelomeric FISH. Meanwhile in our second patient beside the classic phenotype a new symptom - abnormal antiepileptic drug metabolic response - could be observed. Subtelomere FISH confirmed the 9q34.3 terminal deletion. Because of the abnormal drug metabolism in our second patient, we performed array CGH analysis as well searching for other rearrangements. Array CGH analysis indicated a large - 1.211 Mb -, deletion only in the 9q subtelomeric region with breakpoints ch9:139,641,471-140,852,911.
Conclusions:
This is the first report on Kleefstra syndrome in patients describing a classical and a complex phenotype involving altered drug metabolism.
Nonfatal Hyperammonemic Encephalopathy as a Late Complication of Roux-en-Y Gastric Bypass
Authors: Juan D Salcedo, Jordan S Goldstein, Jose M Quinonez, Maria Antonietta Mosetti
Journal: Case Rep Gastrointest Med (2019)
MeSH terms: Case Reports

Roux-en-Y gastric bypass (RYGB) is the most common weight loss procedure performed in the US. Gastric bypass-related hyperammonemia (GaBHA) is a potentially fatal entity, characterized by encephalopathy associated with hyperammonemia and various nutritional deficiencies, which can present at variable time intervals after RYGB. Twenty-five cases of hyperammonemic encephalopathy after bariatric surgery have been previously reported in the literature. We describe the case of a 48-year-old Hispanic woman with no prior history of liver disease, presenting with nonfatal hyperammonemic encephalopathy as a late postoperative complication 20 years after undergoing a RYGB. Hyperammonemic encephalopathy in the absence of known hepatic dysfunction presents a diagnostic dilemma. An early diagnosis and intervention are crucial to decrease morbidity and mortality.
Nail changes secondary to docetaxel chemotherapy : a case report
Authors: Qamar Ghafoor, Anula Chetiyawardana
Journal: J Med Case Rep (2008)

Introduction:
Docetaxel is a chemotherapy agent used in the management of many neoplastic conditions. Various side effects are known. Nail changes are often under-recognised or attributed to other causes.
Case presentation:
We report the case of a 66 year old gentleman who received docetaxel chemotherapy for non-small cell lung cancer. He had nail changes as a complication of the treatment.
Conclusion:
Nail toxicity is a recognised side-effect of taxane chemotherapy agents and can often persist for many months after finishing the treatment. We would like to highlight this problem, so it can be considered as a differential diagnosis in the appropriate population.
On the Use of Multivariate Methods for Analysis of Data from Biological Networks
Authors: Troy Vargason, Daniel P Howsmon, Deborah L McGuinness, Juergen Hahn
Journal: Processes (Basel) (2017)
Keywords: fisher discriminant analysis, autism spectrum disorder, classification, machine learning, multivariate statistics, one carbon metabolism, probability density function, transsulfuration, urine toxic metals

Data analysis used for biomedical research, particularly analysis involving metabolic or signaling pathways, is often based upon univariate statistical analysis. One common approach is to compute means and standard deviations individually for each variable or to determine where each variable falls between upper and lower bounds. Additionally, p-values are often computed to determine if there are differences between data taken from two groups. However, these approaches ignore that the collected data are often correlated in some form, which may be due to these measurements describing quantities that are connected by biological networks. Multivariate analysis approaches are more appropriate in these scenarios, as they can detect differences in datasets that the traditional univariate approaches may miss. This work presents three case studies that involve data from clinical studies of autism spectrum disorder that illustrate the need for and demonstrate the potential impact of multivariate analysis.
Alice in Wonderland Syndrome as a Presenting Manifestation of Creutzfeldt-Jakob Disease
Authors: Tirza Naarden, Bastiaan C Ter Meulen, Sarah I van der Weele, Jan Dirk Blom
Journal: Front Neurol (2019)
Keywords: heidenhain variant, etiology, metamorphopsia, neurodegeneration, prion disease, prognosis, time distortion, visual perception
MeSH terms: Case Reports

Background: Alice in Wonderland syndrome (AIWS) is a rare neurological disorder characterized by distortions of visual perception (metamorphopsias), the body image, and the experience of time, along with derealization and depersonalization. Some 85% of patients present with perceptual distortions in a single sensory modality, e.g., only visual or only somesthetic in nature. Moreover, the majority experience only a single type of distortion, e.g., only micropsia or only macropsia. AIWS has many different etiologies, and hence an extensive differential diagnosis. Its amenability to treatment depends on the underlying pathological process, which in children is mostly encephalitis, and in adults, migraine. In the literature, no more than 180 "clinical" cases of AIWS have been described (i.e., cases in need of medical attention). Of them, some 50% showed a favorable prognosis. However, non-clinical cases (i.e., fleeting, transient cases of AIWS for which no professional help is needed) have been described in up to 30% of the general population. This indicates that AIWS is perhaps not as rare as traditionally assumed, and has led some authors to conclude that, prognostically, AIWS is usually harmless. Methods: From our own clinical practice, we describe the first known case of Creutzfeldt-Jakob Disease (CJD, Heidenhain variant) that presented with symptoms of AIWS. Results: In our patient, disease onset was sudden and rapidly progressive, starting with isolated visual symptoms. Symptoms of AIWS comprised akinetopsia, chloropsia, micropsia, macropsia, zoom vision, and time distortions (quick-motion phenomenon and protracted duration). Soon, these were complicated by paraesthesias, gait instability, aphasia, expressive amusia, cognitive decline, and behavioral changes in the form of agitation and emotional lability. The diagnosis of probable sporadic CJD was confirmed with the aid of a head MRI and cerebrospinal fluid (14-3-3 protein). In the absence of any treatment options, our patient was discharged home and died within 2 months after his visual symptoms had begun. Autopsy consent was not obtained. Conclusion: We conclude that AIWS is not always as harmless as sometimes suggested, and that CJD, although extremely rare, must be part of its extensive differential diagnosis, notably in the presence of rapid cognitive decline.
A Case of Conjunctival Amyloidosis with Repeated Subconjunctival Hemorrhage
Authors: Takaaki Ando, Toshiyuki Oshitari, Mamiko Saito, Ayako Tawada, Takayuki Baba, Jiro Yotsukura, Shuichi Yamamoto
Journal: Case Rep Ophthalmol Med (2017)
MeSH terms: Case Reports

Conjunctival amyloidosis is a very rare disease, and its presence may be a sign of systemic amyloidosis. We present our ocular and systemic findings in a patient with conjunctival amyloidosis. A 43-year-old man had repeated subconjunctival hemorrhages (SCHs) for two years and was referred to the Chiba University Hospital. He had comprehensive ophthalmological and systemic examinations to determine the cause of the SCHs. His visual acuities were 1.2 OU, and the intraocular pressures were 13-14 mmHg OU. Magnetic resonance imaging was normal. Initially, the SCH was the only abnormality. After 3 months, the SCH had partially cleared, and a pink mass was detected in the superior area of the subconjunctiva. Partial biopsy and histopathological examinations showed a greenish birefringence and dichroism under polarized light illumination. The birefringence was located in amyloid fibers. Immunofixation electrophoresis detected λ-light chain abnormality in the ocular biopsy specimen but systemic examinations did not find any lesions. Multiple myeloma was ruled out, and the patient is being followed closely to detect any early signs of systemic amyloidosis. Because repeated SCHs might be initial signs of systemic amyloidosis, patients with conjunctival amyloidosis should be comprehensively examined for systemic amyloidosis because of its poor life prognosis.
Fatal Septic Shock in a Patient with Hemophagocytic Lymphohistiocytosis Associated with an Infectious Mononucleosis
Authors: Giorgio Berlot, Ariella Tomasini, Lorenzo Zandonà, Eugenio Leonardo, Rossana Bussani, Nadia Zarrillo
Journal: Case Rep Crit Care (2018)
MeSH terms: Case Reports

The authors describe the case of a young woman who developed a clinical pictures resembling a septic shock-related multiple organ dysfunction syndrome a couple of months after having been diagnosed suffering from a hemophagocytic lymphohistiocytosis associated with an infectious mononucleosis. Despite the aggressive treatment, which included antibiotics, vasopressors, IV immunoglobulins, and the use of an extracorporeal device aimed to remove mediators released both during sepsis and the cytokine storm determined by the hemophagocytic lymphohistiocytosis, the patient died. At the autopsy, an extremely uncommon aggressive lymphoma of Epstein-Barr virus-positive T-lymphocytes with systemic involvement was discovered.
A Case of Perforated Cholecystitis into a Parastomal Hernia
Authors: Sereibanndith Seang, Amy Hort, Preet K S Gosal, Mark Richardson
Journal: Case Rep Surg (2022)
MeSH terms: Case Reports

Introduction:
Parastomal hernia is a common complication following an enterostomy. Gallbladder herniation into parastomal hernia is rare and may become symptomatic and inflamed and very rarely can lead to gallbladder perforation. We present the first case of gallbladder perforation inside a parastomal hernia with a unique skin change. Case Description. In this report, an 87-year-old female with a history of previous open cystectomy and ileal conduit formation, presented with right upper quadrant pain and worsening parastomal swelling. A computed tomography scan showed a parastomal herniation of the gallbladder, cholelithiasis, and possible early acute cholecystitis. Within 12 hours of admission, bile staining skin changes developed around her urostomy site which raised our suspicion of a perforated gallbladder. Biliary peritonitis was confirmed on laparoscopy the same day. We proceeded with an open midline cholecystectomy without hernia repair. The patient was well at her last follow-up. Discussion. A literature review found 14 published cases of incarcerated gallbladder hernia. This uncommon condition mainly affects elderly females. Ten cases were managed operatively, and four cases were managed nonoperatively, with good outcomes. Currently, no consensus on treatment guidelines exists. In a frail elderly patient, a nonoperative approach may be suitable. Operative management was indicated in this case due to clinical concerns of perforation due to developing skin changes. This cutaneous sign has not been previously documented in the literature.
Conclusion:
While rare, the gallbladder can herniate and become incarcerated inside a parastomal hernia. Bile staining of the skin should raise clinical suspicion of perforation. Management options depend on patient and pathology factors and can be nonoperative or operative, with or without hernia repair.
Molecular characterization of a rare analphoid supernumerary marker chromosome derived from 7q35 → qter: a case report
Authors: Bárbara Marques, Cristina Ferreira, Filomena Brito, Sónia Pedro, Cristina Alves, Teresa Lourenço, Marta Amorim, Hildeberto Correia
Journal: Mol Cytogenet (2016)
Keywords: 7q duplication, analphoid supernumerary marker chromosome, chromosome 7, neocentromere, partial 7q tetrasomy
MeSH terms: Case Reports

Background:
Analphoid supernumerary marker chromosomes (aSMC) constitute one of the smallest groups of SMC, and are characterized by a centromeric constriction but no detectable alpha-satellite DNA. These marker chromosomes cannot be properly identified by conventional banding techniques alone, and molecular cytogenetic methods are necessary for a detailed characterization. Analphoid SMC derived from chromosome 7 are extremely rare, with only five cases reported so far.
Case presentation:
In this work we report an aSMC involving the terminal long arm of chromosome 7 in a 10-year-old boy with multiple dysmorphic features and severe development delay. Cytogenetic analysis revealed a mosaic karyotype with the presence of an extra SMC, de novo, in 20% of lymphocytes and 73% of fibroblast cells. Next, we performed FISH analysis with multiple DNA probes and cCGH analysis. This identified the origin of the SMC as an analphoid marker resulting of invdup rearrangement of 7q35-qter region. Affimetrix CytoScan HD array analysis redefined the aSMC as a 15.42 Mb gain at 7q35-q36.3 (minimum tetraplicated region-chr7: 143,594,973-159,119,707; GRCh37/hg19) of maternal origin that encloses 67 OMIM genes, 16 of which associated to disease. Uniparental disomy of chromosome 7 (UPD 7) has been excluded.
Conclusions:
We report the first patient with an aSMC(7) derived from the terminal 7q region who has been molecularly and clinically full characterized. The use of SNParray in the characterization of SMC reveals to be a powerful tool, giving information not only about copy number variation but also about loss-of-heterozygosity and parental origin. We conclude that an integrated genome-wide copy number variation analysis, if possible associated to FISH and gene expression studies, could facilitate in the future the difficult task of establishing accurate genotype-phenotype correlations and help to improve genetic counselling.
Incidental Thrombus in Transit Causing Embolic Stroke
Authors: Brian Malm, Paul Hermany, Alan Morrison
Journal: Case Rep Med (2017)
MeSH terms: Case Reports

Thrombus in transit leading to paradoxical systemic arterial embolism is a rare echocardiographic finding in patients presenting with embolic stroke. We present a case of a patient who had an atrial thrombus in transit discovered incidentally and later suffered a fatal stroke. Etiologies of cardioembolic stroke and the use of echocardiography in diagnosis and management are briefly discussed.
Scrotal Cystocele in a Sliding Left Inguinoscrotal Hernia: A Case Report and Review of Literature
Authors: Ambikavathy Mohan, Kumar Srinivasan
Journal: Euroasian J Hepatogastroenterol (2017)
Keywords: bladder herniation, scrotal cystocele, sliding inguinoscrotal hernia
MeSH terms: Case Reports

Inguinoscrotal bladder herniation has a reported incidence of 1 to 4%. Although small bladder herniations are noted at the time of inguinal hernia repair, large bladder herniation into the scrotum is rare. These patients have a unique presentation of signs and symptoms. We report a case of a male patient of age 64 years who had a large inguinoscrotal hernia with bladder. He successfully underwent hernioplasty after repositioning of the bladder. Now, he is symptom-free and on follow-up. How to cite this article: Mohan A, Srinivasan K. Scrotal Cystocele in a Sliding Left Inguinoscrotal Hernia: A Case Report and Review of Literature. Euroasian J Hepato-Gastroenterol 2017;7(1):87-88.
Case report: SARS-CoV-2 specific T-cells are associated with myocarditis after COVID-19 vaccination with mRNA-1273
Authors: Ulrik Stervbo, Marc Van Bracht, Stathis Philippou, Nina Babel, Timm H Westhoff
Journal: Front Med (Lausanne) (2023)
Keywords: airr-seq, covid-19, sars-cov-2, t cell receptor (tcr), mrna-1273, myocarditis, vaccination
MeSH terms: Case Reports

Vaccination of SARS-CoV-2 with BNT162b2 or mRNA-1273 both have a low incidence of induction of myocarditis. Here we report on utilizing adaptive immune receptor repertoire sequencing (AIRR-Seq) as a way to assess the specificity of tissue infiltrating immune cells.
Robotic resection of a single adenoid cystic tumor liver metastasis using ICG fluorescence. A case report and literature review
Authors: Alessio Pasquale, Laura Marinelli, Francesco Antonio Ciarleglio, Michela Campora, Nick Salimian, Giovanni Viel, Alberto Brolese
Journal: Front Surg (2023)
Keywords: icg fluorescence, adenoid cystic carcinoma, case report, liver metastasis, liver robotic surgery
MeSH terms: Case Reports

Adenoid cystic carcinoma (AdCC) is a rare tumor that typically develops in the salivary glands and less frequently in other sites of the head and neck region. Only a few cases of resected metachronous liver metastases have been reported. Minimally invasive surgery is currently the gold standard of care for liver resections; furthermore, the use of Indocyanine Green (ICG) is continuously increasing in surgical practice, especially in cases of primary liver tumors and colorectal liver metastases, due to its capacity to enhance liver nodules. We report the case of a 54-year-old male with a single liver metastasis of AdCC, located in SIII, who presented in our center 9 months after resection of a primary tumor of the laryngotracheal junction and adjuvant proton therapy. A 25-mg injection of ICG (0.3 mg/kg) was administered 48 h before surgery in order to highlight the tumor and perform an ICG-guided resection. The lesion was clearly visible during surgery, and, given its position and the proximity to the main lobar vessels of the left lobe, we opted for a left lateral sectionectomy. The outcome was unremarkable, with no major postoperative complications. The administration of ICG 48 h before surgery seems to be a valid tool even in cases of AdCC liver metastases, providing surgeons with better visualization of the lesion and improving the precision of the resection.
RET rearrangement-positive pancreatic cancer has remarkable response to pralsetinib: a case report
Authors: Tongyi Zhang, Hongwei Wang, Zhiwei Cai, Siqi Zhang, Chongyi Jiang
Journal: Front Oncol (2023)
Keywords: ret fusion, ret inhibitors, pancreatic cancer, pralsetinib, target therapy
MeSH terms: Case Reports

Patients with metastatic pancreatic cancer have limited treatment options and a dismal prognosis. While RET fusion is rare (0.6%) in pancreatic cancer, the efficacy of RET-targeted treatment in patients with TRIM33-RET fusion has not been previously reported. Herein, we presented a case of a 68-year-old man with pancreatic cancer harboring TRIM33-RET fusion who responded remarkably to pralsetinib despite being intolerant to chemotherapy. To our knowledge, this is the first report on the clinical value of a single TRIM33-RET fusion in pancreatic cancer, which may benefit from the targeted therapy.
Cisplatin-Induced Nephrotoxicity and HIV Associated Nephropathy: Mimickers of Myeloma-Like Cast Nephropathy
Authors: Muhammad Siddique Khurram, Ahmed Alrajjal, Warda Ibrar, Jacob Edens, Umer Sheikh, Ameer Hamza, Hong Qu
Journal: Case Rep Nephrol (2017)
MeSH terms: Case Reports

Myeloma cast nephropathy is an obstructing disorder of renal tubules, caused by precipitation of Bence Jones proteins. Myeloma-like cast nephropathy (MLCN) has been reported in the literature to occur in various primary renal and nonrenal diseases. We present a series of three rare cases of cast nephropathy, two of which are HIV patients, and the third patient is receiving cisplatin-based chemotherapy. However, in all three patients plasma cell dyscrasia has been ruled out. A 30-year-old male was admitted to the hospital with facial cellulitis. The second patient is a 31-year-old male who presented with Pneumocystis jiroveci pneumonia. The third patient was treated with cisplatin-based chemotherapy for carcinoma. First two cases revealed foci of diffuse tubular dilatation containing hyaline casts and interstitial inflammatory infiltrate, in addition to globally sclerotic glomeruli with ultrastructural foot process fusion and mesangium expansion. The third case showed acute tubular injury and cast formation of irregular casts composed of amorphous or granular material of low density admixed with scattered high electron-dense globules. Myeloma-like cast nephropathy and true myeloma cast nephropathy pose similar destructive effects on renal parenchyma. This new pattern of HIV-related nephropathy should be considered in HIV patients with MLCN, once monoclonal gammopathy is ruled out.