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Intrinsic Muscle Stem Cell Dysfunction Contributes to Impaired Regeneration in the mdx Mouse.
J Cachexia Sarcopenia Muscle
February 2025
Sprott Centre for Stem Cell Research, Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, Canada.
Background: Duchenne muscular dystrophy (DMD) is a devastating disease characterized by progressive muscle wasting that leads to diminished lifespan. In addition to the inherent weakness of dystrophin-deficient muscle, the dysfunction of resident muscle stem cells (MuSC) significantly contributes to disease progression.
Methods: Using the mdx mouse model of DMD, we performed an in-depth characterization of disease progression and MuSC function in dystrophin-deficient skeletal muscle using immunohistology, isometric force measurements, transcriptomic analysis and transplantation assays.
Impact of genetic test interpretation on a missense variant in Cohen syndrome.
Front Neurosci
December 2024
Institute of Cell Biology and Neurobiology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin und Humboldt-Universität zu Berlin, Berlin, Germany.
Introduction: Cohen syndrome (CS) is an early-onset pediatric neurodevelopmental disorder characterized by postnatal microcephaly and intellectual disability. An accurate diagnosis for individuals with CS is crucial, particularly for their caretakers and future prospects. CS is predominantly caused by rare homozygous or compound heterozygous pathogenic variants in the vacuolar protein sorting-associated 13B () gene, which disrupt protein translation and lead to a loss of function (LoF) of the encoded VPS13B protein.
View Article and Find Full Text PDFLong-term follow-up of combination therapy with pembrolizumab and anlotinib in thoracic SMARCA4-deficient undifferentiated tumor: a case report and molecular features.
Front Oncol
December 2024
Cancer Center, Department of Pathology, Zhejiang Provincial People's Hospital(Affiliated People's Hospital), Hangzhou Medical College, Hangzhou, China.
Thoracic SMARCA4-deficient undifferentiated tumors (SMARCA4-UTs), recently recognized as a rare malignancy described in the 5th edition of the World Health Organization Classification of Tumors, are characterized by an inactivating mutation in SMARCA4, most commonly found in the mediastinum of male smokers. Despite the aggressive nature and poor prognosis associated with these tumors, which have a median survival time of approximately 4-7 months, no standardized treatment guidelines are currently established. There are currently no reported cases of extended progression-free survival (PFS) in SMARCA4-UT patients treated with surgery and immunotherapy.
View Article and Find Full Text PDFMucormycosis Causing Splenic Infarction, Gastric Fistula, and Brain Abscess in a Patient With Acute Myeloid Leukemia: A Case Report.
Case Rep Infect Dis
December 2024
Hospital Infection Control Department, Hospital de Base, Federal District, Brasilia, Brazil.
Invasive mucormycosis is an aggressive fungal infection characterized by rapid progression, primarily impacting immunocompromised individuals. Herein, we report a case of splenic infarction in association with gastrointestinal fistula and brain abscess as a rare presentation of mucormycosis biopsy, proven in a 56-year-old patient diagnosed with acute myeloid leukemia. The patient initially sought medical attention with a 3-week history of fever, night sweats, and malaise.
View Article and Find Full Text PDFBreast Adenocarcinoma and Cold Agglutinin Disease: A Paraneoplastic Syndrome.
Cureus
November 2024
Department of Oncology, Medical University of South Carolina, Charleston, USA.
Autoimmune hemolytic anemia is a disorder that is characterized by the destruction of red blood cells through an autoimmune process, such as temperature-dependent antibodies. The two predominant types, cold agglutinin and warm agglutinin disease, typically possess different underlying etiologies. Prompt recognition and workup of autoimmune hemolytic anemia should be prioritized to potentially uncover any underlying primary cause, such as malignancy.
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