Zobrazeno 1 - 10
of 1 334
pro vyhledávání: '"genetic test"'
Autor:
Maha Alotaibi
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Introduction: Genetics’ integration with society sparks a multifaceted exploration in medicine, ethics, and psychology. This survey probes parental perspectives on childhood genetic disorders, aiming to gauge their understanding, attitudes, and imp
Externí odkaz:
https://doaj.org/article/36709d6837b74bfda80ef7242bd466af
Autor:
Gabriela Carvalho Monnerat Magalhães, Luciana Coutinho Bezerra, Beny Binensztok, Maysa Ramos Vilela, Ellen Fernanda das Neves Braga, Adriana Soares Xavier de Brito, Gabriel Cordeiro Camargo, Luiz Felipe Camillis, Helena Cramer Veiga Rey, Clara Weksler
Publikováno v:
American Heart Journal Plus, Vol 45, Iss , Pp 100444- (2024)
Introduction: Cardiac amyloidosis (CA) poses significant diagnostic and therapeutic challenges. In this case report, we detail a patient with CA due to a rare transthyretin (CA-TTR) mutation, manifesting with negative myocardial scintigraphy and requ
Externí odkaz:
https://doaj.org/article/62a04212d8754ef0b8555a34c0e7c800
Autor:
Carol Mansfield, Marco Boeri, Josh Coulter, Eileen Baranowski, Susan Sparks, Kristina An Haack, Alaa Hamed
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract Background Genetic testing can offer early diagnosis and subsequent treatment of rare neuromuscular diseases. Options for these tests could be improved by understanding the preferences of patients for the features of different genetic tests,
Externí odkaz:
https://doaj.org/article/4f87b512d9d74070b33b0313593413c4
Autor:
Qingxuan Wang, Linghui Dai, Sisi Lin, Shuwei Zhang, Jing Wen, Endong Chen, Quan Li, Jie You, Jinmiao Qu, Chunjue Ni, Yefeng Cai
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
BackgroundA preoperative diagnosis to distinguish malignant from benign thyroid nodules accurately and sensitively is urgently important. However, existing clinical methods cannot solve this problem satisfactorily. The aim of this study is to establi
Externí odkaz:
https://doaj.org/article/83edae5126ce4227adbcaadc6f53fcb9
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
AimThe aim of this study is to investigate if Preimplantation Genetic Testing (PGT) can effectively identify unreported variants according to American College of Medical Genetics and Genomics (ACMG)to prevent citrullinemia type 1 affection.DesignThis
Externí odkaz:
https://doaj.org/article/7f22eac341384ab3a6bdf4a1fe85cf96
Publikováno v:
Breast, Vol 76, Iss , Pp 103752- (2024)
Introduction: The financial impact of breast cancer has been discussed due to its high incidence and the increased costs of systemic therapy and is even more relevant in countries with low and medium socioeconomic development. Objective: To evaluate
Externí odkaz:
https://doaj.org/article/7db95704765d48258e378cc16211701c
Publikováno v:
International Medical Case Reports Journal, Vol Volume 17, Pp 23-29 (2024)
Yang Liu,1,2,* Hui Yang,1,2,* Xueshu Fu,1,2 Luting Zhong,1,2 Ping Xu,1,2 Fang Fang,1,2 Ying Liu,1,2 Qing Li,1,2 Ya’nan Yan,1,2 Shanchuang Wei,1,2 Junqing Wang,1,2 Chunhua Zhang1– 3 1Department of Gynaecology, Affiliated Hospital of YangZh
Externí odkaz:
https://doaj.org/article/ee111785da934c3aa8b4d69a6be57a22
Autor:
Sara Ghilardi, Giulietta Minozzi, Maria Grazia De Iorio, Camilla Gonzi, Stefano Frattini, Mara Bagardi, Paola G. Brambilla, Alessandra Paganelli, Michele Polli
Publikováno v:
Animals, Vol 14, Iss 18, p 2712 (2024)
Canine degenerative myelopathy is a fatal neurodegenerative disorder that affects the spinal cord. It is a late-onset disease, with symptoms becoming evident later in life at approximately 8 years of age. The principal aim of this study was to retros
Externí odkaz:
https://doaj.org/article/96003af386e5474194d944b3618101f2
Publikováno v:
Romanian Journal of Cardiology, Vol 33, Iss 3, Pp 118-122 (2023)
MELAS is a systemic hereditary condition that can present as hypertrophic or mixed hypertrophic and dilated phenotype cardiomyopathy in young individuals, although a late-onset form is also described in the literature. Genetic testing is essential fo
Externí odkaz:
https://doaj.org/article/3399133fed8a4109b54f8c3d37356789
Autor:
Parvina Fazail Ismayilova
Publikováno v:
Правові горизонти, Vol 18, Iss 3 (2024)
The article explores the various biomedical issues surrounding genetics that necessitate legal regulation. Genetics is a rapidly advancing field that holds immense potential for revolutionizing healthcare and improving human life. However, with these
Externí odkaz:
https://doaj.org/article/5ba3fcdac3b34a818a148a921e0c6027