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Effects of miRNAs in inborn error of metabolism and treatment strategies.
Postgrad Med J
January 2025
Department of Pediatric Metabolic Diseases, University of Health Sciences, Ankara Etlik City Hospital, Ankara 06170, Turkey.
Metabolism is the name given to all of the chemical reactions in the cell involving thousands of proteins, including enzymes, receptors, and transporters. Inborn errors of metabolism (IEM) are caused by defects in the production and breakdown of proteins, fats, and carbohydrates. Micro ribonucleic acids (miRNAs) are short non-coding RNA molecules, ⁓19-25 nucleotides long, hairpin-shaped, produced from DNA.
View Article and Find Full Text PDFCase Report and literature review: Delayed diagnosis of ARCL1B due to a newly reported homozygous mutation c.464A>C p. (Tyr155Ser) in the gene.
Front Genet
December 2024
Department of Pediatrics, West China Second University Hospital, Chengdu, Sichuan, China.
Background: Autosomal recessive cutis laxa type 1B (ARCL1B) is an extremely rare disease characterized by severe systemic connective tissue abnormalities, including cutis laxa, aneurysm and fragility of blood vessels, birth fractures and emphysema. The severity of this disease ranges from perinatal death to manifestations compatible with survival. To date, no cases have been reported in the Chinese population.
View Article and Find Full Text PDFTargeted therapies and molecular targets in the therapeutic landscape of advanced urothelial carcinoma: state of the art and future perspectives.
Explor Target Antitumor Ther
November 2024
Oncology Institute of Southern Switzerland (IOSI), Ente Ospedaliero Cantonale (EOC), 6500 Bellinzona, Switzerland.
Advanced urothelial carcinoma (aUC) has a dismal prognosis, with a 5-year survival rate of approximately 10%. Platinum-based chemotherapy has been the backbone of the first-line treatment of aUC for over 40 years. Only in the last decade, the treatment of aUC has evolved and been enriched with new classes of drugs that demonstrated pivotal improvements in terms of oncological responses and, ultimately, survival.
View Article and Find Full Text PDFYes-associated protein-based detection of acute type A aortic dissection and evaluation of therapeutic responses.
Front Cardiovasc Med
December 2024
Department of Cardiovascular Surgery, Beijing Anzhen Hospital, Capital Medical University, Beijing, China.
Background: Acute aortic dissection is a lethal cardiovascular emergency; early diagnosis is critically necessary. Novel serum biomarkers can potentially help in early detection and estimation of postoperative outcomes. Yes-associated protein (YAP) is a critical effector of the Hippo pathway, our aim was to explore the association between YAP and the diagnosis and prognosis of AD.
View Article and Find Full Text PDFThe right drug for the right patient at the right time with the right test in differentiated thyroid cancer (DTC).
J Clin Transl Endocrinol
December 2024
Department of Medical and Surgical Sciences (DIMEC), University of Bologna, 40138 Bologna, Italy.
Thanks to the identification of crucial molecular pathways, the therapeutic landscape for advanced differentiated thyroid tumors (DTCs) has significantly improved during the last ten years. The therapeutic scenario has been greatly impacted by the discovery of mutually exclusive gene changes in the MAPK and PI3K/AKT pathways, such as or fusions and pathogenic mutations of the and genes. Indeed, multi-kinase inhibitors and selective inhibitors have demonstrated outstanding efficacy for radioactive iodine-refractory (RAI-R) drug treatment, with overall response rates reaching up to 86%.
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