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Primary extraskeletal osteosarcoma of rectal mesentery: a rare case and literature review.
World J Surg Oncol
January 2025
The Department of General Surgery, The Second Hospital of Jilin University, Changchun, 130041, China.
Background: Extraskeletal osteosarcoma (ESOS) is a rare kind of sarcoma with a low preoperative diagnosis and a poor prognosis. ESOS arising from abdominal mesentery is extremely rare. Increasing diagnostic methods and standardizing treatment protocols are crucial issues of ESOS.
View Article and Find Full Text PDFLangerhans cell histiocytosis in children: the value of ultrasound in diagnosis and follow-up.
BMC Med Imaging
January 2025
Department of Ultrasound Medicine, First Affiliated Hospital, Fujian Medical University, Fuzhou, 350005, China.
Background: Langerhans cell histiocytosis (LCH) is a rare disease, most prevalent in children. Ultrasound is a noninvasive, cheap, and widely available technique. However, systematic elucidation of sonographic features of LCH and treatment related follow-up are relatively few, resulting in overall underestimation of the clinical value of ultrasound in diagnosing and monitoring LCH.
View Article and Find Full Text PDFCiliopathy-associated missense mutations in IFT140 are tolerated by the inherent resilience of the IFT machinery.
Mol Cell Proteomics
January 2025
Institute for Ophthalmic Research, Center for Ophthalmology, University of Tübingen, Elfriede-Aulhorn-Strasse 7, 72076 Tübingen, Germany. Electronic address:
Genotype-phenotype correlations of rare diseases are complicated by low patient number, high phenotype variability and compound heterozygosity. Mutations may cause instability of single proteins, and affect protein complex formation or overall robustness of a specific process in a given cell. Ciliopathies offer an interesting case for studying genotype-phenotype correlations as they have a spectrum of severity and include diverse phenotypes depending on different mutations in the same protein.
View Article and Find Full Text PDFEpstein-Barr virus-associated smooth muscle tumor with multiple lesions in a patient with AIDS.
AIDS
March 2025
Department of Infectious Disease, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.
Epstein-Barr virus-associated smooth muscle tumors (EBV-SMTs) represent a rare category of soft tissue tumors that are predominantly seen in individuals with compromised immune systems. Pathologically, EBV-SMT has malignant potential because of its unpredictable nature. These tumors can manifest at various anatomical sites or even multiple lesions in different locations.
View Article and Find Full Text PDFA deep intronic variant associated with X-linked hypophosphatemia in a Finnish family.
JBMR Plus
February 2025
Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki 00014, Finland.
Hypophosphatemic rickets is a rare bone disease characterized by short stature, bone deformities, impaired bone mineralization, and dental problems. Most commonly, hypophosphatemic rickets is caused by pathogenic variants in the X-chromosomal gene, but autosomal dominant and recessive forms also exist. We investigated a Finnish family in which the son (index, 29 yr) and mother (56 yr) had hypophosphatemia since childhood.
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