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Speech Outcome Audit for Cleft Lip and Palate Patient Population Correlated With Veau Cleft Type, Surgical Repair Technique, and Patient Age.
J Craniofac Surg
October 2024
Institute of Plastic and Craniofacial Surgery, SOBRAPAR Hospital.
Objective: The objective of this study is to determine speech outcome differences for specific palate repair techniques and correlate these data with patient age at the time of operation.
Methods: A retrospective study was conducted on a cohort of consecutive nonsyndromic patients who underwent cleft lip and/or palate repair at the authors' hospital between 2010 and 2020. Only those patients who participated in at least 4 years of follow-up accompanied by audio-video recording were included.
Typical presentation of neurofibromatosis type I in a patient with giant cutaneous neoplasm and café au lait spots: A case report.
Biomed Rep
February 2025
Department of Breast Surgery, Affiliated Tumor Hospital of Xinjiang Medical University, Urumqi, Xinjiang Uyghur Autonomous Region 830000, P.R. China.
Neurofibromatosis type 1 (NF1), which is also known as von Recklinghausen's disease, is a multisystem genetic disease that is principally associated with cutaneous, neurologic and orthopedic manifestations. The present case report described an unusual case with a giant cutaneous neoplasm on the right breast skin of a 36-year-old female who was admitted to the Department of Breast Surgery at the Affiliated Tumor Hospital of Xinjiang Medical University (Urumqi, China). Skin mass excision was performed and histopathology confirmed the diagnosis of thoracic plexiform neurofibroma as a primary presentation of NF1.
View Article and Find Full Text PDFConformation-specific RNA aptamers for phenotypic distinction between normal von Willebrand factor and type 2B von Willebrand disease.
NAR Mol Med
October 2024
Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 1st St SW, Rochester, MN, USA.
The A1 domain in Von Willebrand Factor (VWF) initiates coagulation through binding to platelet glycoprotein GPIbα receptors. Von Willebrand Disease (VWD)-Mutations in A1 that either impair (type 2M) or enhance (type 2B) platelet adhesion to VWF can locally destabilize and even misfold the domain. We leveraged misfolding in the gain-of-function type 2B VWD phenotype as a target, distinct from the normal conformation.
View Article and Find Full Text PDFElectroacupuncture ameliorates inflammatory pain through CB2 receptor-dependent activation of the AMPK signaling pathway.
Chin Med
December 2024
Department of Neurobiology, School of Basic Medicine, Tongji Medical College, Key Laboratory of Neurological Diseases of Hubei Province and National Education Ministry, Huazhong University of Science and Technology, Wuhan, 430030, China.
Background: Chronic inflammatory pain is a pervasive condition, and electroacupuncture (EA) is an effective treatment, but its mechanisms are not fully understood. AMP-activated protein kinase (AMPK), a key energy sensor, is involved in pain relief and EA's effects. EA may work by increasing endocannabinoids, upregulating CB2 receptors (CB2R), and stimulating β-endorphin (β-END).
View Article and Find Full Text PDFTRPC1 links calcium signaling to cellular senescence in the protection against post-traumatic osteoarthritis.
JCI Insight
December 2024
Institute of Musculoskeletal Medicine, University Hospital Münster, Münster, Germany.
Transient receptor potential channel 1 (TRPC1) is a widely expressed mechanosensitive ion channel located within the endoplasmic reticulum membrane, crucial for refilling depleted internal calcium stores during activation of calcium-dependent signaling pathways. Here, we demonstrate that TRPC1 activity is protective within cartilage homeostasis in the prevention of cellular senescence associated cartilage breakdown during mechanical and inflammatory challenge. We reveal that TRPC1 loss is associated with early stages of osteoarthritis (OA) and plays a non-redundant role in calcium signaling in chondrocytes.
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