Publications by authors named "Nicholas D Manton"
Article Synopsis
- PTEN hamartoma tumour syndrome (PHTS) is a hereditary cancer syndrome mainly caused by PTEN gene variants, significantly increasing breast cancer risk for female carriers (up to 80%).
- A study tracked breast biopsies of 14 females with these gene variants over 28 years, finding high rates of breast cancer diagnoses (85.7%) with an average initial diagnosis age of 41.6.
- The research highlights that breast cancer in PHTS does not have distinctive features, emphasizing the need for healthcare professionals to familiarize themselves with these cases for better early recognition and management.
Article Synopsis
- PTEN hamartoma tumour syndrome (PHTS) is a rare genetic condition linked to mutations in the PTEN gene, causing increased cancer risks and benign lesions across various organs.
- A study conducted over 28 years examined the biopsy histories of 12 women with PTEN mutations, revealing that most presented with benign mucocutaneous lesions and significant breast cancer development, with only one having a known family history of Cowden syndrome.
- The findings suggest that analyzing past biopsies can help identify underlying cancer susceptibility syndromes like PHTS, leading to better clinical and genetic counseling for affected individuals.
Objective: Disturbed intestinal barrier function due to 'leaky' tight junctions may cause secondary sepsis via paracellular translocation across the gut wall. Our objective was to describe the effects of critical illness on duodenal morphology and ultrastructure.
Design, Setting And Participants: Prospective observational study of 12 mechanically ventilated critically ill patients in an intensive care unit and 15 control participants in an outpatient endoscopy suite.
Nemaline myopathy (NM) is a rare congenital muscle disorder primarily affecting skeletal muscles that results in neonatal death in severe cases as a result of associated respiratory insufficiency. NM is thought to be a disease of sarcomeric thin filaments as six of eight known genes whose mutation can cause NM encode components of that structure, however, recent discoveries of mutations in non-thin filament genes has called this model in question. We performed whole-exome sequencing and have identified recessive small deletions and missense changes in the Kelch-like family member 41 gene (KLHL41) in four individuals from unrelated NM families.
View Article and Find Full Text PDFBackground: Adult non-alcoholic fatty liver disease (NAFLD) involves lobular necroinflammatory activity and fibrosis is typically centrilobular, whereas paediatric NAFLD has predominantly portal fibrosis. The reasons for these differences are unclear. We aimed to determine (a) how centrilobular and portal fibrosis in children relate to histological parameters; and (b) whether atypical fibrosis patterns exist in adults that are unexplained by current fibrogenesis models.
View Article and Find Full Text PDFThe clinically and genetically heterogenous foetal akinesias have low rates of genetic diagnosis. Exome sequencing of two siblings with phenotypic lethal multiple pterygium syndrome identified compound heterozygozity for a known splice site mutation (c.691+2T>C) and a novel missense mutation (c.
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