We report the case of a primary breast rhabdomyosarcoma in a 51-year-old white woman. The tumor occupied the upper outer quadrant of the right breast. There was no association with the underlying pectoral muscle, and the patient was free of any other benign or malignant neoplastic processes outside the breast. Microscopically, the breast tumor was composed of primitive myoblasts and numerous rhabdomyoblasts at various stages of development, many of which exhibited cytoplasmic cross striations on routine hematoxylin-eosin staining.
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Asian J Endosc Surg
January 2025
Department of Surgery, Nishichita General Hospital, Tokai, Aichi, Japan.
Fistulization involving both the sigmoid colon and urachus is exceedingly rare. While previous cases have often necessitated laparotomy due to the involvement of multiple organs, only one instance of successful laparoscopic surgery has been reported. Here, we present the second documented case of laparoscopic resection of a sigmoid-urachal fistula.
View Article and Find Full Text PDFMol Genet Genomic Med
February 2025
Department of Pediatric Neurology, Hospital Universitario Quirónsalud, Madrid, Spain.
Background: Biallelic pathogenic variants in the FUCA1 gene are associated with fucosidosis. This report describes a 4-year-old boy presenting with psychomotor regression, spasticity, and dystonic postures.
Methods And Results: Trio-based whole exome sequencing revealed two previously unreported loss-of-function variants in the FUCA1 gene.
Am J Med Genet A
January 2025
Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
TBCK (TBC1 Domain-Containing Kinase) encodes a protein playing a role in actin organization and cell growth/proliferation via the mTOR signaling pathway. Deleterious biallelic TBCK variants cause Hypotonia, infantile, with psychomotor retardation and characteristic facies 3. We report on three affected sibs, also displaying cardiac malformations.
View Article and Find Full Text PDFPain Pract
February 2025
North American Spine & Pain, 404 Creek Crossing Blvd, Hainesport, 08056, New Jersey, USA.
Radiofrequency ablation (RFA) is an interventional procedure that has been used to treat chronic back pain for over 50 years; this unique case report demonstrates the effectiveness of pulsed radiofrequency ablation (PRFA) on the dorsal root ganglion (DRG) in the treatment of chronic radicular pain (Russo et al., 2021, J Pain Res, 14, 3897). The RFA provides pain relief by using thermal energy to disrupt peripheral nerves carrying nociceptive signals back to the central nervous system (Abd-Elsayed et al.
View Article and Find Full Text PDFStat Med
February 2025
Department of Mathematical Sciences, University of Texas at Dallas, Richardson, Texas, USA.
Multi-gene panel testing allows efficient detection of pathogenic variants in cancer susceptibility genes including moderate-risk genes such as ATM and PALB2. A growing number of studies examine the risk of breast cancer (BC) conferred by pathogenic variants of these genes. A meta-analysis combining the reported risk estimates can provide an overall estimate of age-specific risk of developing BC, that is, penetrance for a gene.
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