A5019867523- Mitochondrial Function and Pathology
- Hepatocellular Carcinoma Treatment and Prognosis
- RNA modifications and cancer
- Management of metastatic bone disease
- Metabolism and Genetic Disorders
- Multiple and Secondary Primary Cancers
- Microtubule and mitosis dynamics
- Cardiac, Anesthesia and Surgical Outcomes
- Sarcoidosis and Beryllium Toxicity Research
- Lung Cancer Diagnosis and Treatment
- Cystic Fibrosis Research Advances
- Global Cancer Incidence and Screening
- Muscle Physiology and Disorders
- Lung Cancer Treatments and Mutations
- Cardiomyopathy and Myosin Studies
- Cancer Risks and Factors
- Genetic Neurodegenerative Diseases
- Advanced X-ray and CT Imaging
- Pancreatic and Hepatic Oncology Research
- Blood disorders and treatments
- Immunodeficiency and Autoimmune Disorders
- Adipose Tissue and Metabolism
- ATP Synthase and ATPases Research
- Radiomics and Machine Learning in Medical Imaging
- Neurological diseases and metabolism
Newcastle upon Tyne Hospitals NHS Foundation Trust
2018-2024
Wellcome Centre for Mitochondrial Research
2016-2019
Newcastle University
2014-2019
Freeman Hospital
2019
Edinburgh Cancer Research
2019
Western General Hospital
2019
Abstract Background The incidence of cancer diagnosed during pregnancy is increasing. Data relating to investigation and management, as well maternal foetal outcomes lacking in a United Kingdom (UK) population. Methods In this retrospective study we report data from 119 patients with 14 centres the UK across five-year period (2016-2020). Results Median age at diagnosis was 33 years, breast, skin haematological most common primary sites. majority cases were new diagnoses (109 patients,...
Alpers' syndrome is an early-onset neurodegenerative disorder often caused by biallelic pathogenic variants in the gene encoding catalytic subunit of polymerase-gamma (POLG) which essential for mitochondrial DNA (mtDNA) replication. characterized intractable epilepsy, developmental regression and liver failure typically affects children aged 6 months-3 years. Although later onset are now recognized, they differ that primarily epileptic encephalopathy with ataxia. The progressive, without...
Abstract Objectives Mitochondrial methionyl‐ tRNA formyltransferase ( MTFMT ) is required for the initiation of translation and elongation mitochondrial protein synthesis . Pathogenic variants in have been associated with Leigh syndrome LS multiple respiratory chain deficiencies. We sought to elucidate spectrum clinical, neuroradiological molecular genetic findings patients bi‐allelic pathogenic Methods Retrospective cohort study combining new cases previously published cases. Results...
Dysferlinopathy is an autosomal recessive muscular dystrophy, caused by bi-allelic variants in the gene encoding dysferlin (DYSF). Onset typically occurs second to third decade and characterised slowly progressive skeletal muscle weakness atrophy of proximal and/or distal muscles four limbs. There are rare cases symptomatic DYSF variant carriers. Here, we report a large family with dominantly inherited hyperCKaemia late-onset dystrophy.Genetic analysis identified co-segregating novel...
Selective internal radiotherapy (SIRT) with yttrium-90 (Y-90) is an intra-arterial therapy for hepatic malignancy in patients who are unsuitable surgical resection. This treatment considered palliative, although some can demonstrate a response that adequate to facilitate resection curative intent.All underwent liver post SIRT were reviewed. Data gathered included patient demographics, tumor type, details, and post-operative outcomes.Twelve followed by (7 males 5 females). Pathologies...