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25th National and 11th International Annual Congress on Research and Technology of Iranian Medical Sciences Students, Urmia, Iran, 5-7 September, 2024.
Iran Biomed J
December 2024
Department of medical sciences, Cellular & Molecular Research Center, Qom, Iran.
Pediatric Soft Tissue Sarcoma in Limb-Girdle Muscular Dystrophy: Molecular Findings and Clinical Implications.
Am J Case Rep
December 2024
Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.
BACKGROUND Limb-girdle muscular dystrophy recessive 1 (LGMDR1) is an autosomal recessive degenerative muscle disorder characterized by progressive muscular weakness caused by pathogenic variants in the CAPN3 gene. Desmoplastic small round cell tumors (DSRCT) are ultra-rare and aggressive soft tissue sarcomas usually in the abdominal cavity, molecularly characterized by the presence of a EWSR1::WT1 fusion transcript. Mouse models of muscular dystrophy, including LGMDR1, present an increased risk of soft tissue sarcomas.
View Article and Find Full Text PDFSwallowing, speech and voice impairments in head and neck cancer patients treated at a multidisciplinary integrated patient unit.
Int J Lang Commun Disord
December 2024
Hearing, Speech & Language Center, Sheba Medical Center, Tel Hashomer, Israel.
Background: Head and neck cancer (HNC) is amongst the 10 most common cancers worldwide and has a major effect on patients' quality of life. Given the complexity of this unique group of patients, a multidisciplinary team approach is preferable. Amongst the debilitating sequels of HNC and/or its treatment, swallowing, speech and voice impairments are prevalent and require the involvement of speech-language pathologists (SLPs).
View Article and Find Full Text PDFInactivation of the SLC25A1 gene during embryogenesis induces a unique senescence program controlled by p53.
Cell Death Differ
December 2024
Georgetown University Medical Center, Lombardi Comprehensive Cancer Center, Washington, D.C., USA.
Germline inactivating mutations of the SLC25A1 gene contribute to various human disorders, including Velocardiofacial (VCFS), DiGeorge (DGS) syndromes and combined D/L-2-hydroxyglutaric aciduria (D/L-2HGA), a severe systemic disease characterized by the accumulation of 2-hydroxyglutaric acid (2HG). The mechanisms by which SLC25A1 loss leads to these syndromes remain largely unclear. Here, we describe a mouse model of SLC25A1 deficiency that mimics human VCFS/DGS and D/L-2HGA.
View Article and Find Full Text PDFSelf-propelling, protein-bound magnetic nanobots for efficient in vitro drug delivery in triple negative breast cancer cells.
Sci Rep
December 2024
Department of Pharmaceutical Chemistry, Dr. D. Y. Patil Institute of Pharmaceutical Sciences and Research, Pimpri, Pune, India.
The emergence of self-propelling magnetic nanobots represents a significant advancement in the field of drug delivery. These magneto-nanobots offer precise control over drug targeting and possess the capability to navigate deep into tumor tissues, thereby addressing multiple challenges associated with conventional cancer therapies. Here, Fe-GSH-Protein-Dox, a novel self-propelling magnetic nanobot conjugated with a biocompatible protein surface and loaded with doxorubicin for the treatment of triple-negative breast cancer (TNBC), is reported.
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