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Whole-genome sequencing revealed a novel structural variant in causing autosomal dominant Alport syndrome: A case report.
Heliyon
December 2024
Service de Toxicologie et Génopathies, CHU Lille, F-59000, Lille, France.
Next-generation sequencing has substantially transformed the genomic diagnosis of individuals affected by inherited renal disorders. Indeed, accurate and rapid diagnostic for patients with suspected genetic kidney diseases is not only important for prognosis and patient management but also for family counseling. Alport syndrome, a genetic disease primarily affecting the basement membrane, is characterized by hematuria, progressive kidney failure, hearing impairment, as well as ocular abnormalities and stems from mutations in genes encoding type IV collagen.
View Article and Find Full Text PDFSystemic hydroa vacciniforme lymphoproliferative disorder in a patient with chronic active EBV infection.
BMJ Case Rep
December 2024
Dermatology, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA
Hydroa vacciniforme lymphoproliferative disorders (HVLPD) fall within the clinical spectrum of chronic active epstein barr virus (EBV) disease (CAEBVD), ranging from localised and/or indolent forms (classic HVLPD) to systemic disease with fever, hepatosplenomegaly and lymphadenopathy (systemic HVLPD). A preadolescent male with 47XYY, multicystic dysplastic kidney, autism spectrum disorder and Attention-deficit/hyperactivity disorder (ADHD) presented with photodistributed non-pruritic, non-painful necrotic papulovesicles accompanied by non-febrile intermittent fatigue and lymphadenopathy. The patient had a history of EBV pneumonia in infancy confirmed by CT scan and was later diagnosed with CAEBV.
View Article and Find Full Text PDFThe Association Between Serum Trimethylamine -Oxide and Arterial Stiffness in Chronic Peritoneal Dialysis Patients: A Cross-Sectional Study.
Toxins (Basel)
December 2024
Institute of Medical Sciences, Tzu Chi University, Hualien 97004, Taiwan.
Trimethylamine -oxide (TMAO), a gut microbiome-derived metabolite, participates in the atherogenesis and vascular stiffening that is closely linked with cardiovascular (CV) complications and related deaths in individuals with kidney failure undergoing peritoneal dialysis (PD) therapy. In these patients, arterial stiffness (AS) is also an indicator of adverse CV outcomes. This study assessed the correlation between serum TMAO concentration quantified with high-performance liquid chromatography and mass spectrometry and central AS measured by carotid-femoral pulse wave velocity (cfPWV) in patients with chronic PD.
View Article and Find Full Text PDFRelationship Between Serum Myostatin and Endothelial Function in Non-Dialysis Patients with Chronic Kidney Disease.
Diseases
December 2024
Division of Nephrology, Hualien Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Hualien 97004, Taiwan.
Background/objectives: Myostatin, primarily produced by skeletal muscle, inhibits muscle growth and promotes protein degradation. It has been implicated in conditions such as obesity, insulin resistance, and cardiovascular disease. However, its association with endothelial function in chronic kidney disease (CKD) patients remains unclear.
View Article and Find Full Text PDFCD38-specific immunoPET imaging for multiple myeloma diagnosis and therapeutic monitoring: preclinical and first-in-human studies.
Eur J Nucl Med Mol Imaging
December 2024
Department of Nuclear Medicine, Peking University First Hospital, No. 8 Xishiku Str., Xicheng Dist, Beijing, 100034, China.
Purpose: CD38 is a glycoprotein highly specific to multiple myeloma (MM). Therapeutics using antibodies targeting CD38 have shown promising efficacy. However, the efficient stratification of patients who may benefit from daratumumab (Dara) therapy and timely monitoring of therapeutic responses remain significant clinical challenges.
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