Publications by authors named "Victoria Mallett"
Background: Systemic anti-cancer treatment (SACT) can improve symptoms and survival in patients with incurable cancer but there may be harmful consequences. Information regarding the use of SACT at the end-of-life and its impact on patients has not been described in Ireland.
Aims: The study aimed to quantify and describe the use of SACT at end-of-life.
Microdeletions and microduplications of the 16p11.2 chromosomal locus are associated with syndromic neurodevelopmental disorders and reciprocal physiological conditions such as macro/microcephaly and high/low body mass index. To facilitate cellular and molecular investigations into these phenotypes, 65 clones of human induced pluripotent stem cells (hiPSCs) were generated from 13 individuals with 16p11.
View Article and Find Full Text PDFArticle Synopsis
- SMPD1 gene variants, particularly p.L302P and p.fsP330, are associated with an increased risk of developing Parkinson's disease (PD) in certain populations, specifically the Ashkenazi Jewish cohort.
- Analysis revealed that lower acid-sphingomyelinase activity in PD patients is linked to an earlier onset of the disease, indicating its potential role as a biomarker.
- Experimental findings showed that SMPD1 mutations disrupt the normal function of acid-sphingomyelinase, leading to higher levels of α-synuclein in dopaminergic cells, which may contribute to the pathogenesis of PD.
The lysosomal enzyme glucocerebrosidase (GCase), encoded by GBA, has an important role in Parkinson disease (PD). GBA mutation carriers have an increased risk for PD, earlier age at onset, faster progression, and various nonmotor symptoms including cognitive decline, REM sleep behavior disorder, hyposmia, and autonomic dysfunction.(1) Furthermore, GCase enzymatic activity is reduced in the peripheral blood(2) and brain(3) of noncarrier, sporadic PD patients.
View Article and Find Full Text PDFThe MC1R gene, suggested to be involved in Parkinson disease (PD) and melanoma, was sequenced in PD patients (n = 539) and controls (n = 265) from New York, and PD patients (n = 551), rapid eye movement sleep behavior disorder (RBD) patients (n = 351), and controls (n = 956) of European ancestry. Sixty-eight MC1R variants were identified, including 7 common variants with frequency > 0.01.
View Article and Find Full Text PDFLRRK2 mutations in Parkinson disease; a sex effect or lack thereof? A meta-analysis.
Parkinsonism Relat Disord
July 2015
Background: It is currently under debate whether there is a sex effect in LRRK2-associated Parkinson disease (PD), as several studies suggested such effect while others did not.
Methods: All case-control studies describing LRRK2 mutations and PD were examined, and papers with data on sex and LRRK2 mutations in both patients and controls were included (n = 17) in a sex-stratified meta-analysis. Additional studies (n = 33) that included data on male:female ratio only in patients with LRRK2 mutations, were included in further analysis of male:female ratio in LRRK2-assocoiated PD patients.