Developing Topics.

Background: Early-onset Alzheimer's disease (EOAD) is a complex disease that occurs at an early age at onset (AAO) before 65 years, constituting 5-6% of all AD cases and remains poorly understood. Patient-derived induced pluripotent stem cells (iPSCs) have been used to model different forms of EOAD that display heterogeneous disease mechanisms.

Method: We examined iPSC-derived neurons from both familial EOAD harboring mutations in PSEN1 , PSEN2, and APP and non-familial EOAD patients at an early AAO.

Systematic application of UPLC-Q-ToF-MS/MS coupled with chemometrics for the identification of natural food pigments from Davidson plum and native currant.

This study investigates the potential of Australian Traditional foods as novel sources of natural colourants for food applications, employing untargeted metabolomics and chemometrics. Two native species were analysed: Davidson plum and native currant. The species were quantitatively assessed for colour properties using the CIELAB colour system in conjunction with Ultra Performance Liquid Chromatography-Quadrupole Time of Flight Tandem Mass Spectrometry (UPLC-Q-ToF-MS/MS).

Integrative multiomics reveals common endotypes across PSEN1, PSEN2, and APP mutations in familial Alzheimer's disease.

Background: PSEN1, PSEN2, and APP mutations cause Alzheimer's disease (AD) with an early age at onset (AAO) and progressive cognitive decline. PSEN1 mutations are more common and generally have an earlier AAO; however, certain PSEN1 mutations cause a later AAO, similar to those observed in PSEN2 and APP.

Methods: We examined whether common disease endotypes exist across these mutations with a later AAO (~ 55 years) using hiPSC-derived neurons from familial Alzheimer's disease (FAD) patients harboring mutations in PSEN1, PSEN2, and APP and mechanistically characterized by integrating RNA-seq and ATAC-seq.

Phenotype Spectrum of TRPM3-Associated Disorders.

Objective: Monoallelic variants in the transient receptor potential melastatin-related type 3 gene (TRPM3) have been associated with neurodevelopmental manifestations, but knowledge on the clinical manifestations and treatment options is limited. We characterized the clinical spectrum, highlighting particularly the epilepsy phenotype, and the effect of treatments.

Methods: We analyzed retrospectively the phenotypes and genotypes of 43 individuals with TRPM3 variants, acquired from GeneMatcher and collaborations (n = 21), and through a systematic literature search (n = 22).

Cost and activity analysis for a citywide patient navigation intervention to engage underserved patients in breast cancer treatment: Findings from the Translating Research Into Practice study.

Background: Patient navigation is an evidence-based intervention for reducing delays in cancer care for underserved populations. There are limited economic evaluations of patient navigation in the US health care system and few have considered costs at various phases along the implementation spectrum. Having economic data, including costs and cost savings, can support sustainability of patient navigation programs.