Publications by authors named "G Griffiths"
Unlocking the power of personalised medicine in oncology hinges on the integration of clinical trial data with translational data (i.e. biospecimen-derived molecular information).
View Article and Find Full Text PDFGriscelli syndrome type 2 (GS2) is a rare, life-threatening immunodysregulatory disorder characterised by impaired cytotoxic activity leading to susceptibility to haemophagocytic lymphohistiocytosis (HLH) and hypopigmentation. We completed a literature review and analysis of clinical data of 149 patients with GS2 including 8 new patients.We identified three founder mutations which show diverse phenotypic profiles (RAB27A c.
View Article and Find Full Text PDFThe importance of calcium (Ca2+) as a second messenger in T cell signaling is exemplified by genetic deficiencies of STIM1 and ORAI1, which abolish store-operated Ca2+ entry (SOCE) resulting in combined immunodeficiency (CID). We report five unrelated patients with de novo missense variants in ITPR3, encoding a subunit of the inositol 1,4,5-trisphosphate receptor (IP3R), which forms a Ca2+ channel in the endoplasmic reticulum (ER) membrane responsible for the release of ER Ca2+ required to trigger SOCE, and for Ca2+ transfer to other organelles. The patients presented with CID, abnormal T cell Ca2+ homeostasis, incompletely penetrant ectodermal dysplasia, and multisystem disease.
View Article and Find Full Text PDFArticle Synopsis
- Acne is a common skin condition that affects women's quality of life and often leads to long-term antibiotic use, prompting the study of spironolactone as a potential treatment.
- The study was a randomized, double-blind trial assessing the effectiveness and cost-effectiveness of spironolactone for treating facial acne in women aged 18 and older, continuing their usual topical treatments.
- Results showed that among the 410 women randomized, the treatment group successfully tolerated spironolactone at increasing doses, with a focus on improvements in acne-related quality of life over a 12-week period.
Malignant mesothelioma is a rare tumour caused by asbestos exposure that originates mainly from the pleural lining or the peritoneum. Treatment options are limited, and the prognosis is dismal. Although immune checkpoint blockade (ICB) can improve survival outcomes, the determinants of responsiveness remain elusive.
View Article and Find Full Text PDF