Publications by authors named "J Taurino"
Objective: This study investigates the prevalence and underlying factors of fatigue in individuals with Marfan syndrome (MFS) and hypermobile Ehlers-Danlos syndromes (hEDS), highlighting the necessity for focused research on this symptom within these patient populations.
Design: Cross-sectional, multicentre study.
Setting: Data were collected from participants diagnosed with MFS or hEDS across multiple healthcare centres.
Background/objectives: Identifying novel variants in very rare disease genes can be challenging when patients exhibit a complex phenotype that expands the one described, and we provide such an example here. A few terminal truncating variants in cause spastic paraplegia (SP), intellectual disability (ID), nystagmus, and obesity (SINO, MIM #617296). Prompted by the result of next-generation sequencing on a patient referred for SP associated with complex brain dysmorphisms, we reviewed the phenotype of SINO patients focusing on their brain malformations, mainly described in prenatal age and first years of life, and tried to understand if the predicted effect of the mutant kidins220 may have caused them.
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- The study aimed to analyze self-care behaviors and self-care self-efficacy in Marfan syndrome patients while identifying factors influencing these behaviors.
- It found that while patients performed adequately in maintaining health and monitoring symptoms, their management of symptoms when they occur was lacking.
- The research emphasizes the need for improved educational programs to boost self-care management and self-efficacy in these patients, with recommendations for healthcare professionals to focus on targeted educational activities.
Article Synopsis
- Marfan syndrome (MFS) is a rare genetic disorder that affects connective tissue, leading to serious complications like thoracic aortic aneurysms (TAA), which may require preventive surgery.
- There is a need for non-invasive biomarkers and new therapeutic targets for MFS, as current monitoring methods involve complex imaging and are time-sensitive.
- Recent studies using high-throughput platforms have identified potential biomarkers and therapeutic targets related to pathways involved in MFS, but further validation in large patient groups is needed to confirm their effectiveness.
Article Synopsis
- Marfan syndrome (MFS) is a rare genetic disorder caused by mutations in the Fibrillin-1 gene, leading to various systemic issues, particularly affecting the cardiovascular, ocular, and musculoskeletal systems.
- Accurate diagnosis is crucial for effective treatment and involves scoring systems and identifying DNA mutations to distinguish MFS from other connective tissue diseases.
- A multidisciplinary team approach is recommended for managing MFS, incorporating specialists from various fields to ensure comprehensive care and personalized treatment for patients.