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1.
Sci Rep ; 14(1): 11892, 2024 May 24.
Artículo en Inglés | MEDLINE | ID: mdl-38789456

RESUMEN

In recent days researchers have tried to handle the maximum information and use those techniques and methods in which there is no chance of data loss or loss of information is minimum. The structure like fuzzy set and complex fussy set cannot discuss the upper and lower approximations. Moreover, we can observe that a fuzzy rough set cannot discuss the second dimension and in this case, there is a chance of data loss. To cover all these issues in previous ideas, the notion of a complex fuzzy rough set in Cartesian form is the demand of the day because this structure can discuss the second dimension as well as upper and lower approximations. For this purpose, in this manuscript, we have developed the theory of complex fuzzy relation and complex fuzzy rough set in Cartesian form. Moreover, we have initiated the fundamental laws for complex fuzzy rough numbers based on Frank t-norm and t-conorm. The fundamental tools that can convert the overall input into a single output are called aggregation operators (AOs). So based on the characteristics of AOs, we have defined the notion of complex fuzzy rough Frank average and complex fuzzy rough Frank geometric AOs. The utilization of the developed theory is necessary to show the importance and validity of the delivered approach. So based on developed notions, we have defined an algorithm for this purpose along with an illustrative example. We have utilized the introduced structure for the classification of AI tools for civil engineering. Moreover, the comparative analysis of the delivered approach shows the advancement of the introduced structure as compared to existing notions.

2.
Cureus ; 15(10): e47281, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-38021759

RESUMEN

Apert syndrome (AS), also known as type I acrocephalosyndactyly, is a rare congenital condition characterized by craniosynostosis resulting from missense mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. This comprehensive review delves into AS, covering its clinical manifestations, genetics, diagnosis, medical management, psychosocial considerations, and future research directions. AS presents with distinct features, including a brachycephalic skull, midface hypoplasia, and limb anomalies such as syndactyly. It follows an autosomal dominant inheritance pattern with mutations in the FGFR2 gene. Prenatal diagnosis is possible through advanced imaging techniques and molecular testing. The multidisciplinary approach to AS management involves surgical interventions, orthodontics, and psychological support. Although no curative treatment exists, early interventions can significantly improve function and aesthetics. The quality of life for AS patients is influenced by psychosocial factors, necessitating comprehensive support for both patients and their families. Future research directions include gene therapy, understanding cellular responses to FGFR2 mutations, and addressing genetic heterogeneity. Collaborative efforts are vital to advancing knowledge about AS and its genetic underpinnings. Overall, this review serves as a valuable resource for healthcare professionals, educators, and researchers, contributing to a deeper understanding of AS and facilitating advancements in diagnosis and treatment.

3.
Cureus ; 15(7): e42614, 2023 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-37521595

RESUMEN

Fibrodysplasia ossificans progressiva (FOP), also known as Stoneman syndrome, is a rare genetic disorder characterized by abnormal bone development caused by activating mutations of the ACVR1 gene. FOP affects both the developmental and postnatal stages, resulting in musculoskeletal abnormalities and heterotopic ossification. Current treatment options for FOP are limited, emphasizing the need for innovative therapeutic approaches. Challenges in the development of management criteria for FOP include difficulties in recruitment due to the rarity of FOP, disease variability, the absence of reliable biomarkers, and ethical considerations regarding placebo-controlled trials. This narrative review provides an overview of the disease and explores emerging strategies for FOP treatment. Gene therapy, particularly the CRISPR-Cas9 (clustered regularly interspaced short palindromic repeats-associated protein 9) system, holds promise in treating FOP by specifically targeting the ACVR1 gene mutation. Another gene therapy approach being investigated is RNA interference, which aims to silence the mutant ACVR1 gene. Small molecule inhibitors targeting glycogen synthase kinase-3ß and modulation of the bone morphogenetic protein signaling pathway are also being explored as potential therapies for FOP. Stem cell-based approaches, such as mesenchymal stem cells and induced pluripotent stem cells, show potential in tissue regeneration and inhibiting abnormal bone formation in FOP. Immunotherapy and nanoparticle delivery systems provide alternative avenues for FOP treatment.

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