Elucidating the genetic contributions to Parkinson's disease (PD) etiology across diverse ancestries is a critical priority for the development of targeted therapies in a global context. We conducted the largest sequencing characterization of potentially disease-causing, protein-altering and splicing mutations in 710 cases and 11,827 controls from genetically predicted African or African admixed ancestries. We explored copy number variants (CNVs) and runs of homozygosity (ROHs) in prioritized early onset and familial cases.
View Article and Find Full Text PDFAm J Physiol Endocrinol Metab
January 2025
The Respiratory Exchange Ratio (RER), which is the ratio of total carbon dioxide produced over total oxygen consumed, serves as a qualitative measure to determine the substrate usage of a particular organism on the whole-body level. Quantification of RER by its direct conversion into %Glucose (%G) and %Lipid oxidation (%L) at a given timepoint can be done by utilizing nonprotein respiratory quotient tables. These tables, however, are limited to specific increments, and intermediate RER values are not covered by these tables.
View Article and Find Full Text PDFBackground: More efficient therapeutic options for non-small cell lung cancer (NSCLC) are needed as the survival at 5 years of metastatic disease is near zero. In this regard, we used a preclinical model of metastatic lung adenocarcinoma (SV2-OVA) to assess the safety and efficacy of novel radio-immunotherapy combining hypofractionated radiotherapy (HRT) with muPD1-IL2v immunocytokine and muFAP-CD40 bispecific antibody.
Methods: We evaluated the changes in the lung immune microenvironment at multiple timepoints following combination therapies and investigated their underlying antitumor mechanisms.
Background: Functional neurological movement disorders are common and disabling. Little is known about their coexistence with other non-functional movement disorders and their impact on the general disease burden.
Objectives: Investigating frequency and characteristics of functional movement disorders in GCH1-positive dopa-responsive dystonia patients.
Objective: The benefits of mobile applications in the prenatal period remain understudied. This study assessed associations between the Pregnancy Postpartum Support Program (PPSP), a digital wraparound service, and maternal and infant outcomes in a Medicaid population.
Methods: A retrospective analysis was conducted on pregnant patients with Medicaid insurance who received care and delivered in a Midwestern United States healthcare system between 8/1/2022-8/15/2023, comparing outcomes among those who did versus did not opt for PPSP enrollment.