Publications by authors named "N Finch"
Article Synopsis
- The C9orf72 gene features a non-coding hexanucleotide repeat expansion linked to amyotrophic lateral sclerosis and frontotemporal dementia, and previous research has struggled to assess its methylation levels due to technology limits.
- We employed a targeted long-read sequencing method to analyze blood DNA from 27 individuals with expanded C9orf72 repeats, aiming to quantify methylation and measure repeat length.
- Our findings indicate that the expanded repeat is significantly methylated, with levels varying greatly among individuals, and show correlations between methylation, age, and repeat length, highlighting the clinical significance of these methylation differences.
Objective: Cefiderocol is a novel antibiotic used to treat multidrug-resistant bacterial infections. However, there is limited data on its effectiveness for ventriculitis. The objective of this study was to evaluate cefiderocol concentrations in both serum and cerebrospinal fluid (CSF) during the treatment of ventriculitis.
View Article and Find Full Text PDFAmyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by upper and lower motor neuron signs. There are, however, cases where upper motor neurons (UMNs) are predominantly affected, leading to clinical presentations of UMN-dominant ALS or primary lateral sclerosis. Furthermore, cases exhibiting an UMN-predominant pattern of motor neuron disease (MND) presenting with corticobasal syndrome (CBS) have been sparsely reported.
View Article and Find Full Text PDFObjectives: This case-control study aimed to evaluate calcitonin response in naturally occurring hypercalcemia in cats and assess the relationships between calcitonin and ionized calcium (iCa) and examine relationships between calcitonin, iCa and bone turnover.
Methods: Hypercalcemic cats (persistently increased iCa concentration [>1.40 mmol/l]) were identified retrospectively via a medical database search; additional hypercalcemic and normocalcemic cats were recruited prospectively.
The most prominent genetic cause of both amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) is a repeat expansion in the gene C9orf72. Importantly, the transcriptomic consequences of the C9orf72 repeat expansion remain largely unclear. Here, we used short-read RNA sequencing (RNAseq) to profile the cerebellar transcriptome, detecting alterations in patients with a C9orf72 repeat expansion.
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