Publications by authors named "Sam Ackroyd"
Background: Myelofibrosis (MF) is a blood cancer associated with splenomegaly, blood count abnormalities, reduced life expectancy and high prevalence of disease-associated symptoms. Current treatment options for MF are diverse, with limited data on management strategies in real-world practice in the United Kingdom.
Methods: The REALISM UK study was a multi-center, retrospective, non-interventional study, which documented the early management of patients with MF.
Article Synopsis
- . Aicardi-Goutières syndrome is an inflammatory disease caused by mutations in seven specific genes, affecting 374 patients studied from 299 families.
- . Patients typically present with either in utero disease onset (22.8%) or post-natal symptoms within the first year of life (68.6%), leading to severe disabilities and a high mortality rate (19.3%).
- . A strong link was found between these genetic mutations and increased type I interferon activity, suggesting a need for targeted treatment strategies to address the serious health issues associated with the syndrome.
SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase and a nuclease that restricts HIV-1 in noncycling cells. Germ-line mutations in SAMHD1 have been described in patients with Aicardi-Goutières syndrome (AGS), a congenital autoimmune disease. In a previous longitudinal whole genome sequencing study of chronic lymphocytic leukemia (CLL), we revealed a SAMHD1 mutation as a potential founding event.
View Article and Find Full Text PDFBackground: Aicardi-Goutières syndrome (AGS) is an inflammatory disorder caused by mutations in any of six genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR). The disease is severe and effective treatments are urgently needed. We investigated the status of interferon-related biomarkers in patients with AGS with a view to future use in diagnosis and clinical trials.
View Article and Find Full Text PDFComparatively little is known of the cytogenetics of Waldenström macroglobulinemia (WM). This is primarily due to the low proliferation of the clonal B cells, which precludes conventional karyotyping in many cases. Translocations involving the immunoglobulin heavy chain (IGH) gene at 14q32 are characteristic of many B-cell lymphomas and myelomas.
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