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| http://dx.doi.org/10.1136/bmj.1.5745.384 | DOI Listing |
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The Identification of a Novel Pathogenic Variant of the Gene Associated with a Classic Phenotype of Anderson-Fabry Disease: A Clinical and Molecular Study.
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Institute for Biomedical Research and Innovation (IRIB), National Research Council (CNR), 90146 Palermo, Italy.
Anderson-Fabry (or Fabry) disease is a rare lysosomal storage disorder caused by a functional deficiency of the enzyme alpha-galactosidase A. The partial or total defect of this lysosomal enzyme, which is caused by variants in the gene, leads to the accumulation of glycosphingolipids, mainly globotriaosylceramide in the lysosomes of different cell types. The clinical presentation of Fabry disease is multisystemic and can vary depending on the specific genetic variants associated with the disease.
View Article and Find Full Text PDFBaicalin Mitigates Cardiac Hypertrophy and Fibrosis by Inhibiting the p85a Subunit of PI3K.
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Department of Biochemistry and Molecular Biology, School of Basic Medicine and the Collaborative Innovation Center for Brain Science, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.
Heart failure (HF) is a serious public health concern. Baicalin is one of the major active ingredients of a traditional Chinese herbal medicine, Huang Qin, which is used to treat patients with chest pain or cardiac discomfort. However, the underlying mechanism(s) of the cardioprotective effect of baicalin are still not fully understood.
View Article and Find Full Text PDFA Study of Combined Onabotulinumtoxin A and Hyaluronic Acid Filler for the Treatment of Enlarged Facial Pores.
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Division of Dermatology, Department of Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand.
Introduction: Enlarged facial pores are a common cosmetic concern caused by excessive sebum production, visible hair shafts, and a reduction in skin elasticity, leading to a decrease in skin quality and overall appearance. Various treatment modalities have been explored to address this issue. This study focuses on the efficacy and safety of combining Onabotulinumtoxin A (OnaBoNT-A) and hyaluronic acid filler (HA filler) to target enlarged facial pores in Asians.
View Article and Find Full Text PDFTargeting Chondrocyte Hypertrophy as Strategies for the Treatment of Osteoarthritis.
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Institute of Tissue Regeneration Engineering (ITREN), Dankook University, Cheonan 31116, Republic of Korea.
Osteoarthritis (OA) is a common joint disease characterized by pain and functional impairment, which severely impacts the quality of life of middle-aged and elderly individuals. During normal bone development, chondrocyte hypertrophy is a natural physiological process. However, in the progression of OA, chondrocyte hypertrophy becomes one of its key pathological features.
View Article and Find Full Text PDFFirst-line combination therapy of immunotherapy plus anti-angiogenic drug for thoracic SMARCA4-deficient undifferentiated tumors in AIDS: a case report and review of the literature.
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Department of Respiratory Medicine, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, China.
Background: Thoracic SMARCA4-deficient undifferentiated tumors (SMARCA4-UT) exhibit a notably aggressive phenotype, which is associated with poor patient survival outcomes. These tumors are generally resistant to conventional cytotoxic chemotherapy, thereby limiting the availability of effective treatment options.
Case Presentation: We describe a 69-year-old AIDS patient who initially presented with a fused, enlarged lymph node on the right clavicle and mild, unexplained pain under the right axilla that worsened with severe coughing episodes.
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