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Case Report: Prepubertal-type testicular teratoma with local metastasis in a postpubertal patient.
Front Oncol
February 2025
Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN, United States.
Introduction: We report for the first time a case of a postpubertal patient presenting with a metastatic prepubertal-type testicular teratoma.
Case Discussion: A 29-year-old male with a history of corrected unilateral cryptorchidism presented with progressive bilateral lower extremity edema. Imaging revealed an inferior vena cava thrombus associated with a complex mass.
MRI R2* captures inflammation in disconnected brain structures after stroke: a translational study.
Brain
March 2025
Univ. Bordeaux, INSERM, Neurocentre Magendie, U1215, F-3300 Bordeaux, France.
Ischemic strokes disrupt brain networks, leading to remote effects in key regions like the thalamus, a critical hub for brain functions. However, non-invasive methods to quantify these remote consequences still need to be explored. This study aimed to demonstrate that MRI-derived R2* changes can capture iron accumulation linked with inflammation secondary to stroke-induced disconnection.
View Article and Find Full Text PDFA Novel KMT2E Splicing Variant as a Cause of O'Donnell-Luria-Rodan Syndrome With West Syndrome: Expansion of the Phenotype and Genotype.
Int J Dev Neurosci
April 2025
Department of Orthopedics, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
Introduction: O'Donnell-Luria-Rodan (ODLURO) syndrome is an autosomal dominant disorder associated with KMT2E gene variants. ODLURO syndrome is characterized mainly by developmental delay, intellectual disability and macrocephaly or microcephaly; in some patients, it may manifest as autism or epilepsy.
Methods: Trio whole-exome sequencing was performed on a female infant with unexplained West syndrome and developmental regression.
Single-cell transcriptomics analysis reveals that the tumor-infiltrating B cells determine the indolent fate of papillary thyroid carcinoma.
J Exp Clin Cancer Res
March 2025
Department of Thyroid Surgery, Clinical Research Center for Thyroid Diseases of Yunnan Province, The First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, China.
Objective: Active surveillance (AS) offers a viable alternative to surgical intervention for the management of indolent papillary thyroid carcinoma (PTC), helping to minimize the incidence of unnecessary treatment. However, the broader adoption of AS is hindered by the need for more reliable diagnostic markers. This study aimed to identify the differences between indolent and progressive PTC and find new targets for biomarker development and therapeutic strategies.
View Article and Find Full Text PDFZinner syndrome: report of a case and whole exome sequencing.
Basic Clin Androl
March 2025
Department of Urology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, 430074, China.
Background: Zinner syndrome is a rare congenital malformation of the male genitourinary system, characterized by a triad: seminal vesicle cyst, unilateral renal agenesis, and ipsilateral ejaculatory duct obstruction. The etiology of this uncommon disease remains largely elusive; however, genetic mutations may contribute to its development. In this report, we present a case of symptomatic Zinner syndrome that was surgically treated, alongside an investigation into the potential genetic basis of the syndrome via whole exome sequencing.
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