Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive loss of upper and lower motor neurons. ALS is on a pathogenetic disease spectrum with frontotemporal dementia, referred to as ALS-frontotemporal spectrum disorder (ALS-FTSD). For mutations associated with ALS-FTSD, such as the C9orf72 hexanucleotide repeat expansion, the molecular factors associated with heterogeneity along this spectrum require further characterization.
View Article and Find Full Text PDFJ Prim Care Community Health
December 2022
Objectives: To examine Influenza and COVID-19 vaccine concerns and uptake among adult patients in a Southern safety-net health system.
Methods: Trained research assistants conducted a structured telephone interview from April to October 2021. Of 118 participants, mean age was 57.
Clinical heterogeneity observed across patients with amyotrophic lateral sclerosis (ALS) is a known complicating factor in identifying potential therapeutics, even within cohorts with the same mutation, such as C9orf72 hexanucleotide repeat expansions (HREs). Thus, further understanding of pathways underlying this heterogeneity is essential for appropriate ALS trial stratification and the meaningful assessment of clinical outcomes. It has been shown that both inflammation and protein misfolding can influence ALS pathogenesis, such as the manifestation or severity of motor or cognitive symptoms.
View Article and Find Full Text PDFAnn Intern Med
September 2022
Birtwell K, Planner C, Hodkinson A, et al. JAMA Netw Open. 2022;5:e2210192.
View Article and Find Full Text PDFMajor depressive disorder (MDD), schizophrenia (SCZ), and bipolar disorder (BD) have both shared and discrete genetic risk factors, and are associated with peripheral abnormalities. The relationships between such genetic architectures and blood-based markers are, however, unclear. We investigated relationships between polygenic risk scores (PRS) for these disorders and peripheral markers in the UK Biobank cohort.
View Article and Find Full Text PDFAltered metabolism is a hallmark of cancer, both resulting from and driving oncogenesis. The NAD and NADP redox couples play a key role in a large number of the metabolic pathways involved. In their reduced forms, NADH and NADPH, these molecules are intrinsically fluorescent.
View Article and Find Full Text PDFWe examined the role of working memory in observed reactive parenting in a sample of 216 mothers and their same-sex twin children. The mothers and their children were observed completing two frustrating cooperation tasks during a visit to the home. The mothers worked one-on-one with each child separately.
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