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845 articles
August 202624
IFI44L promoter hypomethylation as an epigenetic biomarker of systemic lupus erythematosus: A systematic review and meta-analysis.
This systematic review and meta-analysis assessed IFI44L promoter methylation in people with systemic lupus erythematosus (SLE) compared with controls.
Transperitoneal Laparoscopic Adrenalectomy for Schwannoma with Severe Renal Vein Adhesion.
A 66-year-old man had an asymptomatic renal hilar mass found on surveillance ultrasound. CT showed a 5-cm irregular soft-tissue mass encasing the hilar vessels and two renal arteries arising from the aorta behind the…
Identification and characterisation of a novel homozygous KDM5A variant associated with severe axial hypotonia, seizures, and cardiac anomalies.
A patient with severe neurodevelopmental delay had neuromotor delay, profound axial hypotonia with absent head control, mild upper-limb spasticity, a history of seizures, facial dysmorphism and congenital heart disease.
Pediatric Gastric GIST With SDHA Truncation Despite Retained SDHB Staining: A Case Report.
A 14-year-old boy presented with a gastric GIST, which was positive for KIT and DOG1. Genetic analysis revealed a truncating variant in the SDHA gene, indicating SDH deficiency.
Circulating MicroRNAs as Diagnostic and Prognostic Biomarkers for Neuroblastoma: A Systematic Review and Exploratory Re-analysis.
This systematic review and exploratory re-analysis assessed circulating microRNAs as diagnostic and prognostic biomarkers in patients with neuroblastoma. Nine studies involving 385 patients were included.
Efficacy of Luseogliflozin Added to Semaglutide in Patients With Metabolic Dysfunction-Associated Steatohepatitis and Type 2 Diabetes Mellitus: A Randomised, Open-Label Trial.
This 52-week, open-label, randomised, parallel-group trial in Japan compared luseogliflozin plus semaglutide with semaglutide alone in adults with biopsy-proven MASH and type 2 diabetes.
Artificial intelligence for predicting BCG response in non-muscle-invasive bladder cancer: a systematic review.
This systematic review assessed artificial intelligence and machine-learning models predicting outcomes after intravesical BCG for non-muscle-invasive bladder cancer.
Neoadjuvant Immunotherapy in Localized dMMR/MSI-H Colon Cancer: A Systematic Review of Pathological Response and Surgical Outcomes.
This systematic review assessed prospective interventional studies of neoadjuvant immune checkpoint inhibition in adults with localized, non-metastatic dMMR/MSI-H colon cancer. Six studies were included.
Noncoding RNAs as novel diagnostic biomarkers for diabetic retinopathy: A systematic review and meta-analysis.
This systematic review and meta-analysis assessed the diagnostic accuracy of noncoding RNAs (ncRNAs) for diabetic retinopathy (DR), pooling 24 studies from 17 articles involving 1,983 patients and 1,437 controls.
Noncoronary sinus of Valsalva aneurysm with rupture into the right atrium.
A 13-year-old boy died suddenly after vomiting, his only initial symptom. Forensic autopsy identified a noncoronary sinus of Valsalva aneurysm that had ruptured into the right atrium, causing acute circulatory…
Twelve-Year Follow-up of a Family With CKD Caused by an mtDNA Variant.
Five siblings with unaffected parents presented with hyperuricemia and chronic kidney disease; the proband died of end-stage kidney disease at age 16.
The role of circulating tumor cell dynamics in the prognosis of colorectal cancer: A systematic review and meta-analysis.
This systematic review and meta-analysis examined whether circulating tumor cell (CTC) measurements track treatment response and prognosis in colorectal cancer. It included 18 cohort studies involving 2838 patients.
Kikuchi-Fujimoto Disease - A Case Report in a Middle-aged Adult.
A 46-year-old woman presented with fever and left posterior cervical lymphadenopathy of 2 weeks’ duration. Tuberculosis testing, including GeneXpert, Mantoux testing, and culture, was negative.
Bile Cell-Free DNA as a Tumor-Proximal Source for Molecular Profiling of Biliary Tract Cancer: A Systematic Review and Meta-Analysis.
This systematic review and meta-analysis assessed bile cell-free DNA (cfDNA) for molecular profiling in biliary tract cancer. Eight studies involving 271 patients were included.
The variant c.2766+3A>T in DPYD leads to exon 21 skipping and is associated with DPD deficiency and severe fluoropyrimidine toxicity.
A 50-year-old man with colorectal cancer developed life-threatening grade 3–4 toxicity while receiving adjuvant XELOX (oxaliplatin and capecitabine). Routine DPYD genotyping found no pathogenic variants.
FDG PET/CT in a Case of Urothelial Carcinoma Arising From a Functional Renal Allograft.
Nine years after renal transplantation, a patient with a functional renal allograft was found to have high-grade urothelial carcinoma arising within the graft, with lymph node metastases.
Fatal pulmonary thromboembolism associated with excessive nitrous oxide consumption over several weeks.
A man in his early twenties was hospitalized with acute nitrous oxide intoxication, vitamin B12 deficiency and anaemia. Two weeks later, he was found dead; empty nitrous oxide cartridges were present, and his mother…
Metabolic mimic of inherited bone marrow failure: LMBRD1 (cblF) deficiency in an infant.
An eight-month-old boy presented with macrocytic anemia, reticulocytopenia, neutropenia, infections, failure to thrive, and developmental delay.
Diagnostic Accuracy of Soft Tissue Cytology and Risk of Malignancy Across the IAC-IARC-WHO Six-Tier Reporting System: A Systematic Review and Meta-Analysis With Retrospective Category Mapping.
This systematic review and meta-analysis evaluated the diagnostic accuracy of soft tissue cytology using the IAC-IARC-WHO six-tier reporting system.
Photo Quiz: Globose Yeast-Like Forms With Multiple Peripheral Buds in Urine and Cervical Cytology.
A 26-year-old immunocompetent woman with a history of low-grade papillary urothelial carcinoma presented with upper abdominal pain.
Analytically accurate, clinically inaccurate: A diagnostic case of Pseudohyperparathyroidism.
A 33-year-old kidney transplant recipient with prior secondary hyperparathyroidism treated by parathyroidectomy had a PTH result above the assay’s analytical measurement range, despite normal serum calcium and…
Enlarging Bilateral Perinephric Masses in Nephrotic Syndrome.
A 62-year-old man with biopsy-proven focal segmental glomerulosclerosis presented with nephrotic syndrome and enlarging bilateral perinephric masses.
Mismatch repair protein expression as a prognostic factor in head and neck squamous cell carcinoma: A systematic review.
This systematic review assessed whether mismatch repair (MMR) protein expression predicts outcomes in patients with head and neck squamous cell carcinoma (HNSCC).
Diagnostic Usefulness of Cell Block Samples in Fluid Overload-Associated Large B-Cell Lymphoma.
An 81-year-old woman presented with pericardial and pleural effusions and was diagnosed with stage IVA fluid overload-associated large B-cell lymphoma (FO-LBCL), despite having no underlying condition that could explain…
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