Articles: cations.
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Phosphoglucomutase 1 (PGM1) deficiency is recognized as the third most common N-linked congenital disorders of glycosylation (CDG) in humans. Affected individuals present with liver, musculoskeletal, endocrine, and coagulation symptoms; however, the most life-threatening complication is the early onset of dilated cardiomyopathy (DCM). Recently, we discovered that oral D-galactose supplementation improved liver disease, endocrine, and coagulation abnormalities, but does not alleviate the fatal cardiomyopathy and the associated myopathy. ⋯ Transcriptomic analysis of hearts from mutant mice demonstrated a gene signature of DCM. Although proteomics revealed only mild changes in global protein expression in left ventricular tissue of mutant mice, a glycoproteomic analysis unveiled broad glycosylation changes with significant alterations in sarcolemmal proteins including different subunits of laminin-211, which was confirmed by immunoblot analyses. Finally, augmentation of PGM1 in KO mice via AAV9-PGM1 gene replacement therapy prevented and halted the progression of the DCM phenotype.
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To determine if and how race impacts the 30-day outcomes of gender-affirming chest surgeries. ⋯ Although overall complications are uncommon, there is evidence to suggest that there are racial disparities in certain 30-day outcomes of gender-affirming chest surgeries.
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Race-based health care outcomes remain to be described in anterior cranial fossa (ACF) surgery. ⋯ Although most ACF surgery outcomes were unaffected by race, minority groups had more minor postoperative complications than White patients, particularly UTI. Similar disparities were observed among PA cases. Higher rates of comorbidities may also have led to longer hospital stays. Further study is needed to understand what actions might be necessary to address any race-associated health disparities in ACF surgery.
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To evaluate differences in presentation and outcomes of surgery for colorectal cancer. ⋯ Among patients with colorectal cancer, Black non-Hispanic patients were more likely to undergo emergency surgery than White non-Hispanic patients, suggesting they may face barriers to timely screening and evaluation. Undergoing emergency surgery was associated with incomplete oncologic evaluation, increased incidence of postoperative complications including mortality, and increased surgical margin positivity. These results suggest that racial and ethnic differences in the diagnosis and treatment of colorectal cancer impact near-term and long-term outcomes.