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497 articles
October 202624
Early extracranial dissemination with prolonged survival in IDH-wildtype glioblastoma: case study and comprehensive literature review.
A 65-year-old woman with IDH-wildtype, MGMT-methylated glioblastoma presented with seizures, right hemiplegia, and expressive aphasia.
Recurrent Primary Angiosarcoma of the Breast: Challenges and Pitfalls in a Case Report.
A patient presented with a breast lesion and skin involvement; histopathology and immunohistochemistry confirmed low- to intermediate-grade primary breast angiosarcoma.
Aberrant splicing caused by a homozygous AK2 c.498 + 1G > A variant in a patient with reticular dysgenesis and concurrent B-cell acute lymphoblastic leukemia.
A boy with reticular dysgenesis (RD), a severe immunodeficiency associated with biallelic AK2 loss of function, was also diagnosed with B-cell acute lymphoblastic leukemia (B-ALL).
Fibro-Inflammatory Signaling, Fibrosis, and Microvascular Ischemia as Convergent Translational Substrates of Sudden Cardiac Death in Hypertrophic Cardiomyopathy: A Systematic Review.
This systematic translational review examined whether fibro-inflammatory signaling, fibrosis, and microvascular ischemia converge as substrates for ventricular arrhythmia and sudden cardiac death in hypertrophic…
Atypical presacral masses in Currarino syndrome: a case series.
The report describes three patients with Currarino syndrome, a congenital condition involving a sacral anomaly, anorectal malformation, and presacral mass.
Cold and Room-Temperature Platelets in Cardiac Surgery: The CHIPS Randomized Clinical Trial.
The phase 3, multicenter, randomized CHIPS trial compared cold-stored platelets (CSPs; up to 21 days) with room-temperature platelets (RTPs; up to 7 days) in pediatric and adult patients receiving platelet transfusions…
Clinicopathologic Evaluation of Amyloid Clearance in Alzheimer Disease.
A man in his 50s with mild cognitive impairment and the Alzheimer disease risk-associated p.R47H TREM2 variant received 30 doses of aducanumab (cumulative dose 280 mg/kg) over 4.5 years in a clinical trial.
Myeloid neoplasm with PDGFRA rearrangement presenting in blast-phase with basophilia.
An adult man from Southern Africa presented with progressive fatigue. Blood morphology showed marked basophilia and 21% myeloblasts, with flow cytometry supporting a provisional diagnosis of acute myeloid leukaemia with…
Application of a concise video to improve patient understanding of tumor genomic testing in community and academic practice settings.
This multicenter clinical trial evaluated a 3–4 minute educational video for patients undergoing standard-of-care tumor genomic testing (TGT), across cancer types and academic and community settings.
Hodgkin Lymphoma With Sarcoid-Like Reaction: Importance of Clinicopathological Correlation in Granulomatous Lymphadenopathy.
A 63-year-old man with systemic lymphadenopathy had a cervical lymph node biopsy showing epithelioid granulomas but no identifiable neoplastic cells, prompting an initial suspicion of sarcoidosis.
A case of immunofluorescence-negative light chain deposition disease diagnosed by mass spectrometry.
A 53-year-old man with kidney dysfunction and edema had nodular glomerular lesions on biopsy, but immunofluorescence did not show immunoglobulin or light-chain deposits.
A case of renal hypouricemia type 1 associated with compound heterozygous URAT1/SLC22A12 variants A209V and F379L: clinical evidence for their pathogenic significance.
A 69-year-old woman was evaluated for renal dysfunction and hypouricemia. Testing showed serum uric acid of 0.7 mg/dL and a fractional urate clearance (Cua/Ccr) of 60.5%, alongside CKD stage G3b and a renal stone.
Rouleaux mimicking anti-H in molecularly confirmed para-Bombay siblings: a diagnostic pitfall.
Two siblings from India were found to have a para-Bombay phenotype during evaluation of blood-group serology. In the index case, red cells did not react with anti-H lectin, while weak reactivity with pooled group O red…
Association of virulence genes with biofilm formation in clinical Enterococcus faecalis isolates: a systematic review and meta-analysis.
This systematic review and random-effects meta-analysis assessed associations between virulence gene carriage and microplate-measured biofilm formation in human clinical Enterococcus faecalis isolates.
Tirzepatide-induced pneumatosis intestinalis: a rare but clinically significant gastrointestinal adverse effect.
A 55-year-old man with obesity, type 2 diabetes, hypertension, and obstructive sleep apnea presented with abdominal pain, constipation, and anal fissures while receiving tirzepatide for approximately 1 year; he had lost…
Giant cystic lymphangioma in the pancreatic tail-splenic hilum region managed by en bloc resection: A case report.
A 43-year-old woman presented with two days of persistent dull left upper abdominal pain and nonspecific inflammatory and mild hepatobiliary laboratory abnormalities.
Long-term survival with immune checkpoint inhibitors combined with bevacizumab in advanced clear cell renal cell carcinoma: A case report.
A 49-year-old man with stage IV clear cell renal cell carcinoma and lung metastases underwent palliative nephrectomy and received several targeted and immunotherapeutic regimens, but developed progressive pulmonary…
Secondary pulmonary alveolar proteinosis mimicking progression of interstitial lung disease during treatment for adult-onset still's disease: An autopsy case report.
A 68-year-old woman with adult-onset Still’s disease-associated interstitial lung disease developed worsening respiratory failure while receiving immunosuppressive therapy, despite apparent control of systemic…
SF3B1-mutated MDS coexisting with β-thalassemia trait: A case report and literature review focused on diagnostic distinction from acquired β-thalassemia.
An 81-year-old man presented with fatigue and fever, and testing showed microcytic anemia. Bone marrow morphology and molecular studies identified SF3B1-mutated myelodysplastic syndrome (MDS) alongside β-thalassemia…
Peritoneal dialysis-associated peritonitis caused by Ureaplasma urealyticum: A case report.
A 41-year-old woman on continuous ambulatory peritoneal dialysis for more than 10 years developed acute abdominal pain, fever, cloudy dialysate, and neutrophilic dialysate leukocytosis.
Unintended consequences of vaginal misoprostol use in a patient with hydatidiform mole: A case report.
A 49-year-old woman presented with vaginal bleeding, imaging suspicious for hydatidiform mole, and serum β-hCG of 589,830 mIU/mL. Partial hydatidiform mole was confirmed histologically.
EBV-positive Hodgkin lymphoma with an immunosuppressive microenvironment during guselkumab (interleukin-23 inhibitor) therapy for chronic plaque psoriasis.
A man in his early 40s with chronic plaque psoriasis and psoriatic arthritis developed night sweats, syncope, and bulky right cervical lymphadenopathy seven months after starting guselkumab.
Primary thyroid diffuse large B-cell lymphoma: a case report and focused review of the literature.
A 74-year-old woman presented with dyspnoea, hoarseness, and cough and was diagnosed with primary thyroid non-GCB-type diffuse large B-cell lymphoma, stage IE (IPI 2).
Near point-of-care nucleic acid amplification tests (NPOC-NAATs) using respiratory specimens for detection of pulmonary tuberculosis.
This Cochrane systematic review and meta-analysis assessed near point-of-care nucleic acid amplification testing for pulmonary tuberculosis in adults, adolescents, and children with presumptive disease.
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