Results 51 to 60 of about 717,264 (266)

Safety and Tolerability of Givinostat: Evidence From Real‐World and Clinical Practice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of our study was to establish the prevalence of adverse events in a real‐world setting in boys living with Duchenne muscular dystrophy (DMD) treated with givinostat as part of an Expanded Access Program (EAP) in Italy. Methods The cohort included 90 ambulant boys, with age when treatment started between 6 and 23 years (mean ...
Marika Pane, Anna Capasso, Chiara Arpaia, Adele D’Amico, Emilio Albamonte, Federica Trucco, Maria Sframeli, Riccardo Masson, Francesca Magri, Luca Bello, Romina Venditti, Claudia Dosi, Michela Catteruccia, Michele Tosi, Claudio Bruno, Sonia Messina, Giacomo Comi, Elena Pegoraro, Valeria A. Sansone, Eugenio Mercuri   +19 more
wiley   +1 more source

Endothelial ferroptosis: a novel mechanism and therapeutic target in diabetic microvascular complications

Molecular Medicine
Diabetic complications, which are grave sequelae of diabetes, are the primary cause of mortality among diabetic individuals. Effective prevention and management of these complications are essential for reducing mortality rates.
Zhongyin Xie, Luxin Li, Yanhui Chu, Yan Wu, Yanan Cao, Lijiao Jin, Haiying Shu, Zhen Zhang   +7 more
doaj   +1 more source

UK Cystic Fibrosis Registry Website Enhancements: A User-Centred Approach to the Data Access Transparency

International Journal of Population Data Science
Background As a member of the HDR UK Alliance, Cystic Fibrosis Trust is committed to adopting and maintaining the transparency standards within the UK CF Registry (UKCFR).
Poh-Choo Pang, Sarah Clarke
doaj   +1 more source

CFTR trafficking mutations disrupt cotranslational protein folding by targeting biosynthetic intermediates

Nature Communications, 2020
Cystic fibrosis (CF) is a lethal genetic disease that is primarily caused by misfolding of the cystic fibrosis transmembrane conductance regulator (CFTR). Here authors show that disease-causing mutations located within the first nucleotide binding domain
Hideki Shishido, Jae Seok Yoon, Zhongying Yang, William R. Skach   +3 more
doaj   +1 more source

Endomyocardial fibrosis

Cardiovascular Diagnosis and Therapy, 2020
Endomyocardial fibrosis (EMF) is a neglected cardiovascular disease of poverty which carries a poor prognosis with no specific treatment affecting mainly children and young adults. Here, we report our 10-year experience in the therapeutic management and surgical treatment for EMF.From February 2009 to 2019 March, 55 patients diagnosed with EMF from our
Chukwuemeka Daniel, Iroegbu, Wangping, Chen, Xun, Wu, Ming, Wu, Jinfu, Yang   +4 more
openaire   +3 more sources

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Neurovascular Contacts in the Pathophysiology of Neuralgic Amyotrophy: An Observational Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuralgic amyotrophy (NA) is a prevalent, monophasic, multifocal immune‐mediated neuropathy. A distinctive characteristic of the disease is the occurrence of nerve or fascicle constrictions and torsions (NA‐associated focal nerve lesions, NAFL). The pathophysiology underlying this phenomenon remains to be fully elucidated.
Johannes Fabian Holle, Andreas Leha, Volker Limmroth, Wolfram Windisch, Maximilian Zimmermann   +4 more
wiley   +1 more source

Impact of Achromobacter xylosoxidans isolation on the respiratory function of adult patients with cystic fibrosis

ERJ Open Research, 2019
Background The prevalence of Achromobacter xylosoxidans lung isolation in cystic fibrosis (CF) patients has increased, but the impact on lung function is controversial. The aim of this study was to evaluate the long-term effects of A.
Macha Tetart, Frederic Wallet, Maeva Kyheng, Sylvie Leroy, Thierry Perez, Olivier Le Rouzic, Benoit Wallaert, Anne Prevotat   +7 more
doaj   +1 more source

Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon, Hugues Chabriat, Dominique Hervé, Stéphanie Guey, Sophie Tezenas Du Montcel, Juliette Ortholand   +5 more
wiley   +1 more source

A non-randomised single centre cohort study, comparing standard and modified bowel preparations, in adults with cystic fibrosis requiring colonoscopy

BMC Gastroenterology, 2019
Background Adults with cystic fibrosis (CF) have been reported to be at five to ten-fold risk (25 to 30 fold risk after solid organ transplant) of colorectal cancer (CRC) than the general population.
A. G. Matson, J. P. Bunting, A. Kaul, D. J. Smith, J. Stonestreet, K. Herd, R. S. Hodgson, S. C. Bell   +7 more
doaj   +1 more source