Publications by authors named "E Merlin"
Diabetes is a chronic and progressive disease associated with high blood glucose levels. Several co-morbidities arise from diabetes, the most common and severe one is diabetic neuropathy whose symptoms also include pain hypersensitivity. Currently, there are no effective therapies to counteract painful diabetic neuropathy or slow down the progression of the disease, and the underlying mechanisms are yet to be fully understood.
View Article and Find Full Text PDFObjectives: A new form of systemic juvenile idiopathic arthritis (SJIA) with associated lung disease (SJIA-LD) has recently been described. Multiple lines of treatment have failed to yield satisfactory results for this disorder. JAK inhibitors (JAKis) have recently been approved for the treatment of JIA, but clinical evidence of their efficacy in SJIA-LD is still weak.
View Article and Find Full Text PDFObjective: The objective is to explore the journey to diagnosis and referral pathway from the onset of symptoms to the initial assessments at paediatric rheumatology (PR) centres, based on the experience of children with juvenile idiopathic arthritis (JIA) and their parents.
Design: We conducted a qualitative study with semistructured interviews. Our qualitative and phenomenological procedure applied interpretative phenomenological analysis.
Article Synopsis
- NLRP3-associated autoinflammatory disease is a collection of genetic disorders caused by mutations that lead to increased activity of the NLRP3 protein, which complicates diagnosis despite effective treatments available.
- The study explores 34 different NLRP3 mutations, illustrating their functional differences based on how they respond to various signals that activate them, and highlights their link to symptom severity and misdiagnosis.
- Findings reveal critical areas in the NLRP3 protein that affect its activity and response to treatments, offering new perspectives on the disorder's variability and potential directions for improving diagnosis and therapy.
In recent decades, preterm birth (PTB) has become a significant research focus in the healthcare field, as it is a leading cause of neonatal mortality worldwide. Using five independent study cohorts including 1290 vaginal samples from 561 pregnant women who delivered at term (n = 1029) or prematurely (n = 261), we analysed vaginal metagenomics data for precise microbiome structure characterization. Then, a deep neural network (DNN) was trained to predict term birth (TB) and PTB with an accuracy of 84.
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