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A family with an atypical presentation of TBX3-related disorder.
Eur J Med Genet
January 2025
Genetics Institute, Rambam Health Care Campus, Haifa, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, The Technion, Haifa, Israel. Electronic address:
Background: Ulnar mammary syndrome (UMS) is an autosomal dominant disorder caused by heterozygous pathogenic variants in the T-box transcription factor 3 (TBX3) gene. The phenotype is classically characterized by upper limb defects and apocrine/mammary gland hypoplasia. Endocrine abnormalities include hypogonadotropic hypogonadism (HH), partial growth hormone deficiency and dysmorphic features, while ectopic pituitary gland and various congenital anomalies have also been described.
View Article and Find Full Text PDFIntroduction: Intravesical Bacillus Calmette-Guérin immunotherapy is generally a safe treatment for non-muscle-invasive bladder cancer but sometimes causes complications.
Case Presentation: The patient was an 80-year-old man who had undergone Bacillus Calmette-Guérin immunotherapy for non-muscle-invasive bladder cancer. Two months later, he developed an irregular pelvic mass surrounding the prostate and rectum with no fever.
Primary dedifferentiated liposarcoma of the gallbladder: a case report and literature review.
Front Surg
November 2024
Department of Hepatobiliary and Pancreatic Surgery, The First Hospital of Jilin University, Changchun, China.
Background: Liposarcoma (LPS) is a kind of malignancy of soft tissue usually found in the retroperitoneal, limb, or neck region, and some may be detected with delayed symptoms (pain or palpable mass), and less frequently occurs in organs of the digestive system. In contrast, Dedifferentiated liposarcoma (DDLPS) is a common histological subtype of LPS. The present study reported a case of dedifferentiated liposarcoma originating in the gallbladder.
View Article and Find Full Text PDFPartial Sacrectomy With Lumbopelvic Fixation for Sacral Giant Cell Tumor: Emphasizing Optimal Neuro-Oncological Outcomes.
Cureus
October 2024
Neurosurgery, Dr. D. Y. Patil Medical College, Hospital & Research Centre, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pune, IND.
Giant cell tumors (GCTs) of bone are classified as intermediate malignant tumors with a significant potential for local infiltration. Despite their benign histopathological appearance, these tumors exhibit extreme local aggression. The sacrum is the most commonly affected spinal region, followed by the lumbar, cervical, and thoracic regions.
View Article and Find Full Text PDFA challenging case of a multiple large stones in enterocystoplasty: a case report.
Pan Afr Med J
November 2024
Department of Urology A, University Hospital Center, Rabat, Morocco.
In recent years, the utilization of enterocystoplasty for bladder function enhancement has increased, albeit accompanied by risks such as stone formation, necessitating vigilant follow-up. We report a case of a 60-year-old female with a neobladder who presented with back pain, constipation, and pelvic heaviness, revealing multiple large stones in imaging. Stone analysis showed calcium oxalate and magnesium.
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