Zobrazeno 1 - 10
of 1 036
pro vyhledávání: '"Orphan disease"'
Autor:
Marina D. Muksinova, Yulia F. Osmolovskaya, Irina V. Leontyeva, Mareta A. Galaeva, Olga V. Stukalova, Allan G. Beniashvili, Alfiya A. Safiullina, Igor V. Zhirov, Sergey N. Tereshchenko
Publikováno v:
Терапевтический архив, Vol 96, Iss 8, Pp 812-819 (2024)
Barth syndrome is a rare genetic disease caused by abnormal cardiolipin metabolism, characterized by high mortality within 5 years of diagnosis due to heart failure and/or infectious complications. This article describes a clinical case of an adult p
Externí odkaz:
https://doaj.org/article/28e6323908ef44d5962716a8f8afdc98
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-19 (2024)
Abstract Background Patients living with various rare or orphan diseases (ROD) experience common psychosocial difficulties. Those need emerge from a combination of factors, such as the large variety of patients and the rarity of resources, as well as
Externí odkaz:
https://doaj.org/article/e25f6a43b9c847c69ed66fb37c4f2d50
Publikováno v:
Acta Dermato-Venereologica, Vol 104 (2024)
The MDHHgermany registry was initiated to characterize the “real-life” situation of affected individuals with Darier’s disease (DD; Morbus Darier, MD) and Hailey-Hailey disease (HH), including their treatment and healthcare. To gain deeper insi
Externí odkaz:
https://doaj.org/article/d4411358249746bb825525a59d2633f4
Autor:
Dominik T. Schneider, Andrea Ferrari, Daniel Orbach, Calogero Virgone, Yves Reguerre, Jan Godzinski, Ewa Bien, Jelena Roganovic, Nuno Reis Farinha, Tal Ben-Ami, Teresa Stachowicz-Stencel, Tabea Blessing, Antje Redlich, Apostolos Pourtsidis, Kris Ann P. Schultz, Ines B. Brecht, Gianni Bisogno
Publikováno v:
EJC Paediatric Oncology, Vol 3, Iss , Pp 100137- (2024)
Background: Very rare tumors (VRTs) in children and adolescents are orphan diseases defined by an annual incidence of
Externí odkaz:
https://doaj.org/article/f8238ed80f0344d38345f67c73645da6
Autor:
Marilena Briglia, Fabio Allia, Rosanna Avola, Cinzia Signorini, Venera Cardile, Giovanni Luca Romano, Giovanni Giurdanella, Roberta Malaguarnera, Maria Bellomo, Adriana Carol Eleonora Graziano
Publikováno v:
Nutrients, Vol 16, Iss 18, p 3114 (2024)
Background/Objectives: Rare diseases are a wide and heterogeneous group of multisystem life-threatening or chronically debilitating clinical conditions with reduced life expectancy and a relevant mortality rate in childhood. Some of these disorders h
Externí odkaz:
https://doaj.org/article/f3554c4199cc4e3c9ef0e9e8a8c6790a
Autor:
Philipp Faustmann, Jan C. Schroeder, Lucas Mix, Lennart Harland, Andreas Riedel, Wichard Vogel, Claudia Lengerke, Stefan Wirths
Publikováno v:
Frontiers in Oncology, Vol 14 (2024)
IntroductionBlastic plasmacytoid dendritic cell neoplasia (BPDCN) is a rare, aggressive hematologic malignancy. Until recently, the only curative treatment consisted of intensive chemotherapy, followed by hematopoietic cell transplantation (HCT) in e
Externí odkaz:
https://doaj.org/article/59436f179743470f8f93e14d69f715f2
Publikováno v:
Bolʹ, Sustavy, Pozvonočnik, Vol 13, Iss 3, Pp 195-200 (2023)
Background. The dermatosparaxial type of Ehlers-Danlos syndrome (EDSDERMS, VIIC, dEDS) is an extremely rare disorder. To date, 15 patients with this type of Ehlers-Danlos syndrome are known worldwide. The purpose was to improve knowledge and spread d
Externí odkaz:
https://doaj.org/article/69817b9abb8b4b4ebe773f5847c4028f
Autor:
Yang Jiao, Junduo Zhao, Zhen Wang, Xin Chen, Haoyu Cai, Xu'an Huang, Peiyu Sun, Jiayi Shen, Fang Song, Hui Xiong, Yi Dai, Weiyun Chen, Jianxiong Shen
Publikováno v:
International Journal of Infectious Diseases, Vol 134, Iss , Pp 187-194 (2023)
Objectives: To investigate the challenges of patients with spinal muscular atrophy (SMA) during the Omicron variant COVID-19 pandemic. Design: A cross-sectional survey was conducted in China from January 02, 2023, to January 12, 2023, using a questio
Externí odkaz:
https://doaj.org/article/48c64804296f45869ab8aea363fc85e9
Autor:
Heidrun Rhode, Baerbel Tautkus, Friederike Weigel, Julia Schitke, Oliver Metzing, Jan Boeckhaus, Wieland Kiess, Oliver Gross, Axel Dost, Ulrike John-Kroegel
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 17, p 9320 (2024)
Glomerular kidney diseases typically begin insidiously and can progress to end stage kidney failure. Early onset of therapy can slow down disease progression. Early diagnosis is required to ensure such timely therapy. The goal of our study was to eva
Externí odkaz:
https://doaj.org/article/e28fd80637a44d33b7e68c79a5489fa1
Autor:
Daphne H. Schoenmakers, Prisca S. Leferink, Adeline Vanderver, Joshua L. Bonkowsky, Ingeborg Krägeloh-Mann, Geneviève Bernard, Enrico Bertini, Ali Fatemi, Brent L. Fogel, Nicole I. Wolf, Donna Skwirut, Allyson Buck, Brett Holberg, Elise F. Saunier-Vivar, Robert Rauner, Hanka Dekker, Pieter van Bokhoven, Menno D. Stellingwerff, Johannes Berkhof, Marjo S. van der Knaap
Publikováno v:
BMC Neurology, Vol 23, Iss 1, Pp 1-15 (2023)
Abstract Background The leukodystrophy “Vanishing White Matter” (VWM) is an orphan disease with neurological decline and high mortality. Currently, VWM has no approved treatments, but advances in understanding pathophysiology have led to identifi
Externí odkaz:
https://doaj.org/article/8f4af726592c4d9fb60b72f567204c44