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159 articles
October 202624
Fatal Rickettsia parkeri Rickettsiosis in Immunocompromised Pediatric Patient, Georgia, USA, 2025.
A 3-year-old boy in Georgia, USA, receiving chemotherapy for B-cell acute lymphoblastic leukemia was hospitalized with febrile neutropenia.
Acquired Corneal Subepithelial Hypertrophy: First Ultrastructural Characterization by Transmission Electron Microscopy.
A 57-year-old man with prior penetrating keratoplasty for trauma and subsequent Descemet stripping automated endothelial keratoplasty developed progressive visual decline from a superficial corneal opacity.
Successful treatment with BrECADD in a patient with Dubin-Johnson syndrome and classic Hodgkin lymphoma: a case report.
A 26-year-old man with advanced-stage classic Hodgkin lymphoma also had Dubin–Johnson syndrome (DJS) associated with a homozygous ABCC2 variant, c.2291G>A (p.Gly764Asp).
Unexpected finding of AA amyloidosis with novel genetic variants in the MEFV gene in patients undergoing kidney biopsy for proteinuria. A case series.
The report describes patients undergoing kidney biopsy for proteinuria in whom AA amyloidosis was identified, alongside MEFV gene variants.
From inference to proof: nanopore sequencing confirms zoonotic Neisseria Zoodegmatis peritonitis after cat bite-related contamination in a patient on automated peritoneal dialysis.
A 90-year-old patient receiving automated peritoneal dialysis developed peritonitis after a cat bite damaged the transfer set. Empirical therapy produced only a partial response, followed by relapse.
From metastatic disease to no evidence of disease after conversion liver surgery in advanced gastric cancer with liver metastases: A case report.
A 54-year-old woman with initially unresectable, HER2-negative, pMMR-by-IHC, EBER-positive gastric cancer and synchronous liver metastases received tislelizumab-based chemotherapy, with regimen changes after suspected…
Molecular-genetic mechanisms of cerebral arteriovenous malformations: A systematic review of germline, somatic and experimental evidence.
This systematic review synthesised human genetic, molecular, and experimental evidence on cerebral arteriovenous malformation (AVM) formation, clinical course, and potential therapeutic targets.
Translational applications and clinical utility of organoids in ovarian cancer: a systematic review.
This systematic review synthesized 13 studies of patient-derived organoids (PDOs) in ovarian cancer, assessing feasibility, histological fidelity, and agreement between organoid drug sensitivity and clinical outcomes.
A case of lysozyme-induced nephropathy with improved renal function following treatment for chronic myelomonocytic leukemia.
A 75-year-old man with longstanding diabetes presented with weight loss and progressive anemia and was diagnosed with chronic myelomonocytic leukemia (CMML).
Effectiveness of tocilizumab monotherapy for IgG4-related disease-like features caused by idiopathic multicentric Castleman's disease: a case-based review.
A 68-year-old woman presented with dyspnea associated with a recurrent laryngeal tumor, pulmonary consolidation, mediastinal and axillary lymphadenopathy, sclerosing mesenteritis, and retroperitoneal fibrosis.
METASTATIC UROTHELIAL CARCINOMA OF THE BLADDER TO THE RETINA: A CLINICOPATHOLOGIC CORRELATION AND REVIEW OF THE LITERATURE.
A patient with urothelial carcinoma of the bladder had a large yellow-white lesion in the superotemporal retina of the left eye.
Baseline Serum Metabolites as Predictors of Teplizumab Response in Individuals With Type 1 Diabetes.
This analysis examined whether baseline serum metabolites could predict response to teplizumab in 41 people newly diagnosed with type 1 diabetes who participated in the randomized AbATE trial.
Duplicated Appendix With Mucocele Mimicking an Appendiceal Neoplasm in a 45-Year-Old Woman: A Case Report.
A 45-year-old woman with right lower-quadrant pain and fever had CT evidence of ruptured appendicitis with a loculated peri-appendiceal abscess, which improved after percutaneous drainage and intravenous antibiotics.
Co-occurrence of aortic dissection and polycystic kidney disease: a case report.
A 19-year-old Caucasian man with no known medical history collapsed during sexual intercourse and died. Post-mortem examination found hemopericardium and aortic dissection in association with polycystic kidney disease…
Primary intracranial sarcoma, DICER1-mutant: 5 cases highlighting variable clinical and molecular features.
The report describes five patients aged 6 to 40 years with primary intracranial sarcoma, DICER1-mutant, identified through methylation profiling and/or sequencing.
Ciliated hepatic foregut cyst in children and adolescents: a systematic review of clinical presentation, diagnosis, management, and outcomes.
This PRISMA 2020 systematic review descriptively synthesised case reports and case series of histopathologically confirmed ciliated hepatic foregut cysts in patients aged 19 years or younger.
Pacak-Zhuang syndrome with EPAS1 p.Pro531Leu somatic variant: one case report and literature review.
A 4-year-old girl presented with recurrent hypertension, polycythemia and renal hilar masses. Imaging, biochemical testing and genetic analysis of paraffin-embedded tissue confirmed Pacak-Zhuang syndrome with a somatic…
Isolated Bilateral Periocular Lupus Miliaris Disseminatus Faciei: A Clinicopathological Mimicker of Granulomatosis With Polyangiitis.
A healthy young adult man presented with symmetrical papules confined to both periocular regions. Eyelid biopsy showed suppurative necrotizing granulomatous inflammation, prompting concern for granulomatosis with…
Contrast-Enhanced Ultrasound Combined With Biopsy for the Preoperative Diagnosis of a Rare Pelvic Schwannoma: A Case Report.
A 66-year-old man with dysuria and lumbago had a large mixed cystic-solid pelvic mass. Conventional ultrasound showed limited Doppler flow; contrast-enhanced ultrasound (CEUS) demonstrated progressive…
Cerebrospinal fluid positive for SARS-CoV-2 associated with neurological manifestations and proteome alterations in a multiple myeloma patient.
A 67-year-old woman with multiple myeloma and recent exposure to a person with COVID-19 developed rapidly progressive dysarthria, dysphagia, and hypoesthesia without respiratory symptoms.
Oral mucous membrane pemphigoid as a window to systemic autoimmunity: two cases associated with rheumatoid arthritis and Sjögren's disease.
Two women presented with oral mucous membrane pemphigoid (MMP) in the setting of systemic autoimmunity. A 68-year-old woman with longstanding rheumatoid arthritis had recurrent oral ulcerations confirmed as MMP on…
An Integrated Approach to MSI-High Colorectal Cancer Therapy in a Young Patient: A Clinical Case.
A 16-year-old male underwent appendectomy for presumed appendicitis, but persistent postoperative bowel obstruction led to CT detection of a descending-colon tumor and emergency Hartmann’s procedure.
Dysregulation of glycogen metabolism in cardiomyopathy caused by glycogenin-1 (GYG1) missense variants.
The report describes a new case of glycogen storage disease type 15 (GSD15), alongside analysis of heart explants from two previously reported patients.
Tislelizumab-induced hyperamylasemia: Case report and safety analysis using the FAERS database.
A 69-year-old patient developed hyperamylasemia after six cycles of combination immunotherapy with pemetrexed, tislelizumab, and carboplatin. The authors attributed the elevated amylase to tislelizumab.
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