Publications by authors named "A J Bleyer"

Background: MUC1 and UMOD pathogenic variants cause autosomal dominant tubulointerstitial kidney disease (ADTKD). MUC1 is expressed in kidney, nasal mucosa and respiratory tract, while UMOD is expressed only in kidney. Due to haplo-insufficiency ADTKD-MUC1 patients produce approximately 50% of normal mucin-1.

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The trafficking dynamics of uromodulin (UMOD), the most abundant protein in human urine, play a critical role in the pathogenesis of kidney disease. Monoallelic mutations in the UMOD gene cause autosomal dominant tubulointerstitial kidney disease (ADTKD-UMOD), an incurable genetic disorder that leads to kidney failure. The disease is caused by the intracellular entrapment of mutant UMOD in kidney epithelial cells, but the precise mechanisms mediating disrupted UMOD trafficking remain elusive.

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Background And Objectives: Since 2019, the drug overdose death rate among adolescents 14-18 years of age in the United States more than doubled. That cannabis legalization may have contributed to this tragedy is investigated by comparing the death rate in jurisdictions that have legalized medicinal or both medicinal and recreational use with those that have not.

Methods: Unintentional drug overdose death data for each state and District of Columbia (jurisdictions) were obtained from CDC WONDER and separately evaluated according to the jurisdiction legalization implementation of cannabis: recreational legalization, medicinal legalization but not recreational legalization, and nonlegalization.

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Background: The Patient Protection and Affordable Care Act (ACA) allowed Americans aged 19-25 years to remain on their parents' health insurance plans until age 26 years (the Dependent Care Expansion [DCE]). Have those with cancer diagnoses benefited?

Methods: The ACE DCE 7-year age range of 19-25 years was compared for changes in cancer survival and mortality before and after enactment of the ACA with groups that were younger and older (in 7-year age spans: ages 12-18 and 26-32 years, respectively). Cancer death data for the entire United States were obtained from the Centers for Disease Control and Prevention, and relative survival data of patients who were diagnosed with cancer were obtained from the National Cancer Institute Surveillance, Epidemiology, and End Results regions representing 42%-44% of the country.

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