Background: While speech analysis holds promise for mental health assessment, research often focuses on single symptoms, despite symptom co-occurrences and interactions. In addition, predictive models in mental health do not properly assess the limitations of speech-based systems, such as uncertainty, or fairness for a safe clinical deployment.
Objective: We investigated the predictive potential of mobile-collected speech data for detecting and estimating depression, anxiety, fatigue, and insomnia, focusing on other factors than mere accuracy, in the general population.
Erythropoietic protoporphyria (EPP) is a hereditary disease characterized by a deficiency in ferrochelatase (FECH) activity. FECH activity is responsible for the accumulation of protoporphyrin IX (PPIX). Without etiopathogenic treatment, EPP manifests as severe photosensitivity.
View Article and Find Full Text PDFIn 90% of people with erythropoietic protoporphyria (EPP), the disease results from the inheritance of a common hypomorphic FECH allele, encoding ferrochelatase, in trans to a private deleterious FECH mutation. The activity of the resulting FECH enzyme falls below the critical threshold of 35%, leading to the accumulation of free protoporphyrin IX (PPIX) in bone marrow erythroblasts and in red cells. The mechanism of low expression involves a biallelic polymorphism (c.
View Article and Find Full Text PDFDisorders of iron metabolism are among the most common acquired and constitutive diseases. Hemochromatosis has a solid genetic basis and in Northern European populations it is usually associated with homozygosity for the C282Y mutation in the HFE protein. However, the penetrance of this mutation is incomplete and the clinical presentation is highly variable.
View Article and Find Full Text PDFBackground & Aims: Chronic, progressive hepatobiliary disease is the most severe complication of erythropoietic protoporphyria (EPP) and can require liver transplantation, although the mechanisms that lead to liver failure are unknown. We characterized protoporphyrin-IX (PPIX)-linked hepatobiliary disease in BALB/c and C57BL/6 (Fechm1Pas) mice with mutations in ferrochelatase as models for EPP.
Methods: Fechm1Pas and wild-type (control) mice were studied at 12-14 weeks of age.