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PDE11A is a phenotype modulator of Primary Bilateral Macronodular Adrenal Hyperplasia: results of a 334 patients' series.
J Clin Endocrinol Metab
January 2025
Institut Cochin, INSERM U1016, CNRS UMR8104, Paris Descartes University, Paris, France.
Purpose: Primary bilateral macronodular adrenal hyperplasia (PBMAH), the most common cause of Cushing's syndrome due to bilateral nodules, is a heterogeneous disease at the clinical, hormonal and morphological levels. ARMC5 inactivating pathogenic variants are causative of PBMAH and rare variants of PDE11A have been associated with PBMAH.
Methods: Leukocyte DNA of 354 PBMAH index cases was sequenced for ARMC5 and PDE11A genes by Next generation sequencing (NGS).
Effectiveness of Enfortumab-Vedotin for Right Atrial Metastasis Following Total Cystectomy: A Case Report.
Cureus
December 2024
Department of Urology, Graduate School of Medicine, Yamaguchi University, Ube, JPN.
Cardiac metastases from bladder cancer are extremely rare and typically associated with a poor prognosis. We here report a case of a 74-year-old woman who had been diagnosed with multiple bladder cancer and later developed pelvic recurrence and multiple bone metastases. Second-line pembrolizumab treatment achieved complete remission.
View Article and Find Full Text PDFSMARCA4-deficient epithelioid sarcoma revealed by comprehensive genomic profiling, leading to a notable response by nivolumab treatment.
Int Cancer Conf J
January 2025
Department of Hematology and Medical Oncology, Kanagawa Cancer Center, 2-3-2, Nakao, Asahi, Yokohama, Kanagawa 2418515 Japan.
Article Synopsis
- A 50-year-old man presented with a large mass in his left thigh causing significant pain and impaired functionality, with imaging showing widespread tumors in several body parts, but the primary cancer source was unknown.
- Despite rapid tumor progression, he began treatment with nivolumab, an immunotherapy drug, and further genomic profiling led to a re-diagnosis of SMARCA4-deficient epithelioid sarcoma.
- After 5 weeks of treatment, the patient showed significant improvement despite facing some immune-related side effects; by the 12th dose, he had a positive response to the therapy with no new complications.
Introduction: Adrenal myelolipomas are uncommon benign adrenal tumors, which mostly occur unilaterally. We describe a rare case of giant bilateral adrenal myelolipoma mistaken for retroperitoneal liposarcoma.
Case Presentation: A 49-year-old man developed fever, left flank pain, and a large mass in his left abdomen.
Optimal vein access selection in adrenal vein sampling via upper extremity approach: a retrospective analysis of 325 cases.
Sci Rep
January 2025
Department of Cardiovascular, The Second Affiliated Hospital of Chongqing Medical University, No. 74, Linjiang Road, Yuzhong District, Chongqing, 400010, China.
In order to provide some references for vein approach selection in adrenal vein sampling (AVS), this retrospective study analyzed 325 cases of primary aldosteronism (PA) patients who underwent AVS via the upper extremity vein approach, comparing the differences in complications and visual analogue scale (VAS) scores through median cubital vein (MCV), basilic vein (BV), and cephalic vein (CV). The results indicated no significant difference in the incidence of venous spasm (right MCV vs. right BV vs.
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