Zobrazeno 1 - 10
of 336
pro vyhledávání: '"diagnostic odyssey"'
Autor:
Pedro Granjo, Carlota Pascoal, Diana Gallego, Rita Francisco, Jaak Jaeken, Tristen Moors, Andrew C. Edmondson, Kristin A. Kantautas, Mercedes Serrano, Paula A. Videira, Vanessa dos Reis Ferreira
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-17 (2024)
Abstract Background Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases with heterogeneous presentations, leading to substantial diagnostic challenges, which are poorly understood. Therefore, this study aims to elucidat
Externí odkaz:
https://doaj.org/article/3cdd2f60fd6f4e29b8ff4316b5846dbb
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 10, Pp n/a-n/a (2024)
ABSTRACT Background Congenital insensitivity to pain with anhidrosis (CIPA) (OMIM 256800) is a rare autosomal‐recessive condition, also known as hereditary sensory and autonomic neuropathy type IV (HSAN‐IV). The most commonly reported features in
Externí odkaz:
https://doaj.org/article/992b93d6db4248ab9d5b90aae4efd39b
Whole exome sequencing reveals a dual diagnosis of BCAP31-related syndrome and glutaric aciduria III
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101117- (2024)
Background: Biochemical testing is a common first-tier approach in the setting of genetic evaluation of patients with unexplained developmental delay. However, results can be unclear, and a plan for second-tier analysis must be determined based on th
Externí odkaz:
https://doaj.org/article/5b06a9ca26644f6a8fa8d70ac35fb95b
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)
Abstract Background The ‘diagnostic odyssey’ is a common challenge faced by patients living with rare diseases and poses a significant burden for patients, their families and carers, and the healthcare system. The diagnosis of rare diseases in cl
Externí odkaz:
https://doaj.org/article/edbd33cd79654d41b1c72b742b2b8067
Publikováno v:
Neurology and Therapy, Vol 13, Iss 3, Pp 583-598 (2024)
Abstract Background Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness and atrophy. Clinical trial data suggest early diagnosis and treatment are critical. The purpose of this st
Externí odkaz:
https://doaj.org/article/e77e62e7f8324a64a293f7d6d9bcb8ef
Autor:
Chinmayee B. Nagaraj, Diana S. Brightman, Hannah Rea, Emily Wakefield, Nina V. G. Harkavy, Lisa Dyer, Wenying Zhang
Publikováno v:
BMC Pediatrics, Vol 24, Iss 1, Pp 1-5 (2024)
Abstract Background Familial hemophagocytic lymphohistiocytosis (FHL) is an immunological disorder characterized by overactivation of macrophages and T lymphocytes. This autosomal recessive condition has been characterized into multiple types dependi
Externí odkaz:
https://doaj.org/article/c97579fce5a342f29723d121ebc8a2e9
Autor:
Erika Nicole Dreikorn, Christine Munro, Natasha Robin Berman, Amina Kunovac, Daniel Bellissimo, Mylynda B. Massart
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
This case report chronicles the diagnostic odyssey and resolution of a 27-year-old female with a complex neurodevelopmental disorder (NDD) using Whole Exome Sequencing (WES). The patient presented to a precision medicine clinic with multiple diagnose
Externí odkaz:
https://doaj.org/article/fa71875f10a741ccb4d6b88b64f138c3
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
The diagnostic odyssey for people living with rare diseases (PLWRD) is often prolonged for myriad reasons including an initial failure to consider rare disease and challenges to systemically and systematically identifying and tracking undiagnosed dis
Externí odkaz:
https://doaj.org/article/c4c34ffd87244a9f9a803979f7399855
Publikováno v:
Clinics and Practice, Vol 13, Iss 1, Pp 166-176 (2023)
The diagnosis of chronic neuropathic pain requires a laborious process and can be a very long journey for the patients, one that can be characterized as an “odyssey.” Our aim was to describe the “diagnostic odyssey” associated with chronic ne
Externí odkaz:
https://doaj.org/article/fc1f151bdd6d42a58bbfc8c1d8bc22b2
Publikováno v:
Diagnostics, Vol 14, Iss 3, p 313 (2024)
The Kondo-Fu type of spondyloepiphyseal dysplasia (SEDKF) is a rare skeletal dysplasia caused by homozygous or compound heterozygous mutations in the MBTPS1 gene. The MBTPS1 gene encodes a protein that is involved in the regulation of cholesterol and
Externí odkaz:
https://doaj.org/article/cc8d7b70eb534940b583ee65ff0a2ec0