3 results match your criteria: "Institute of Genetic Medicine Newcastle University Newcastle-upon-Tyne UK.[Affiliation]"

Objectives: Ureterorenoscopy is seeing a bloom of technological advances, one of which is incorporating suction. The objective of this study is to systematically review existing literature regarding suction use in rigid and flexible ureterorenoscopy and perform meta-analysis of studies comparing suction versus no suction ureteroscopy or mini percutaneous nephrolithotomy (PCNL).

Methods: A literature search was performed (November 2023) in MEDLINE, Embase and Cochrane CENTRAL.

View Article and Find Full Text PDF

Mitochondrial disorders are heterogeneous, showing variable presentation and penetrance. Over the last three decades, our ability to recognize mitochondrial patients and diagnose these mutations, linking genotype to phenotype, has greatly improved. However, it has become increasingly clear that these strides in diagnostics have not benefited all population groups.

View Article and Find Full Text PDF

Objective: The pathogenic mitochondrial DNA m.3243A>G mutation is associated with a wide range of clinical features, making disease prognosis extremely difficult to predict. We aimed to understand the cause of this heterogeneity.

View Article and Find Full Text PDF