Zobrazeno 1 - 10
of 1 152
pro vyhledávání: '"Orphan diseases"'
Publikováno v:
Zdorovʹe Rebenka, Vol 19, Iss 6, Pp 368-374 (2024)
Background. The increasing number of orphan (rare) diseases, most of which have a prevalence of less than 1 : 1,000,000, poses a serious challenge for modern medicine. In most cases, diagnosis is delayed leading to irreversible changes in the body. T
Externí odkaz:
https://doaj.org/article/7aef693684f24da4bdc835582734d585
Autor:
A. M. Shariya, T. V. Martynyuk
Publikováno v:
Евразийский Кардиологический Журнал, Vol 0, Iss 3, Pp 42-49 (2024)
Objective: to perform a comprehensive analysis of the clinical, functional and hemodynamic status of patients with idiopathic pulmonary hypertension (IPAH) to compare the "portrait" of historical and modern subgroups. Materials and methods. The study
Externí odkaz:
https://doaj.org/article/74b66d22f00148ca841fc40e3ffe51e5
Publikováno v:
Вопросы современной педиатрии, Vol 23, Iss 4, Pp 247-251 (2024)
Background. GM2 gangliosidosis (Tay-Sachs disease, variant B, type I) is an orphan disease with autosomal recessive inheritance. It develops due to gangliosides accumulation in tissues and organs. The description of clinical case of GM2 gangliosidosi
Externí odkaz:
https://doaj.org/article/73097d122f544487adf1ad3417b0a8dd
Autor:
Ivanio Alves Pereira, Nilton Salles Rosa Neto, Renan Rodrigues Neves Ribeiro do Nascimento, Eutilia Andrade Medeiros Freire, Fabricio de Souza Neves, Blanca Elena Rios Gomes Bica, Frederico Augusto Gurgel Pinheiro, Sandro Félix Perazzio, Rafael Alves Cordeiro, Henrique Ayres Mayrink Giardini, Valderilio Feijo Azevedo, Flavio Roberto Sztajnbok
Publikováno v:
Advances in Rheumatology, Vol 64, Iss 1, Pp 1-9 (2024)
Abstract Amyloidosis is a localized or systemic disease caused by deposition of proteins in the extracellular space of various organs and tissues. As part of the disease, proteins that were originally soluble misfold and acquire a fibrillar conformat
Externí odkaz:
https://doaj.org/article/181a0c1f92c34a4b9909dbebfec78a99
Autor:
Renan Rodrigues Neves Ribeiro do Nascimento, Daniela Gerent Petry Piotto, Eutilia Andrade Medeiros Freire, Fabricio de Souza Neves, Flavio Roberto Sztajnbok, Blanca Elena Rios Gomes Bica, Frederico Augusto Gurgel Pinheiro, Katia Tomie Kozu, Ivanio Alves Pereira, Valderilio Feijo Azevedo, Rafael Alves Cordeiro, Henrique Ayres Mayrink Giardini, Marco Túlio Muniz Franco, Margarida de Fátima Fernandes Carvalho, Nilton Salles Rosa-Neto, Sandro Félix Perazzio
Publikováno v:
Advances in Rheumatology, Vol 64, Iss 1, Pp 1-19 (2024)
Abstract Although the terms “rare diseases” (RD) and “orphan diseases” (OD) are often used interchangeably, specific nuances in definitions should be noted to avoid misconception. RD are characterized by a low prevalence within the population
Externí odkaz:
https://doaj.org/article/68d135c32f2743e497a427b3aba01f6c
Publikováno v:
Сахарный диабет, Vol 27, Iss 3, Pp 287-294 (2024)
Lipodystrophy syndromes are a heterogeneous group of extremely rare, inherited or acquired disorders that are characterized by total or partial fat loss or its improper redistribution. The prevalence of lipodystrophies is estimated to be 1:1,000,000
Externí odkaz:
https://doaj.org/article/a3442905e229431e924cffe49492a49f
Autor:
Han-Wook Yoo
Publikováno v:
Clinical and Experimental Pediatrics, Vol 67, Iss 7, Pp 315-327 (2024)
Most rare diseases (orphan diseases) still lack approved treatment options despite major advances in research providing the necessary tools to understand their molecular basis and legislation providing regulatory and economic incentives to expedite t
Externí odkaz:
https://doaj.org/article/144a3ce92bcb417eb01d7abecedf4d29
Publikováno v:
BMC Medical Research Methodology, Vol 24, Iss 1, Pp 1-7 (2024)
Abstract Orphan diseases, exemplified by T-cell prolymphocytic leukemia, present inherent challenges due to limited data availability and complexities in effective care. This study delves into harnessing the potential of machine learning to enhance c
Externí odkaz:
https://doaj.org/article/90398e76b4344e84a69e1bb2fecbacf6
Autor:
Giselle L. Saulnier Sholler, Genevieve Bergendahl, Elizabeth C. Lewis, Jacqueline Kraveka, William Ferguson, Abhinav B. Nagulapally, Karl Dykema, Valerie I. Brown, Michael S. Isakoff, Joseph Junewick, Deanna Mitchell, Jawhar Rawwas, William Roberts, Don Eslin, Javier Oesterheld, Randal K. Wada, Devang Pastakia, Virginia Harrod, Kevin Ginn, Raya Saab, Kevin Bielamowicz, Jason Glover, Eugenia Chang, Gina K. Hanna, Daniel Enriquez, Tyler Izatt, Rebecca F. Halperin, Abigail Moore, Sara A. Byron, William P. D. Hendricks, Jeffrey M. Trent
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-18 (2024)
Abstract Background Children with relapsed central nervous system (CNS tumors), neuroblastoma, sarcomas, and other rare solid tumors face poor outcomes. This prospective clinical trial examined the feasibility of combining genomic and transcriptomic
Externí odkaz:
https://doaj.org/article/aabaaa1d731d43219ab2b7d7fb61c753
Autor:
Olga G. Kvasova, Yuliya A. Tomashevskaya, Irina N. Alimova, Ekaterina A. Klimova, Elena A. Sadovnikova
Publikováno v:
Известия высших учебных заведений. Поволжский регион: Медицинские науки, Iss 1 (2024)
Background. Tuberous sclerosis (TS) is a genetically determined disease with an autosomal dominant type of inheritance. In the population, TS occurs with a frequency of 1:10000 (in newborns 1:6000). The disease is characterized by a variety of clinic
Externí odkaz:
https://doaj.org/article/aa41174fbfb24e4582dec55af0a77eee