Results 111 to 120 of about 110,217 (215)

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies

Developmental Dynamics, EarlyView.
Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki, Rinna Kanai, Sayuri Tatsuta, Shinichi Kawaguchi, Masatsune Itoh, Shinsuke Ohba, Makoto Abe   +6 more
wiley   +1 more source

Examination of oxidative stress and glutamate as potential mechanisms of N-acetylcysteine in the treatment of non-suicidal self-injury in young people assigned female at birth: randomised trial

BJPsych Open
Background Non-suicidal self-injury (NSSI) often emerges during adolescence and young adulthood. A prior open-label pilot study suggested that N-acetylcysteine (NAC) may reduce NSSI frequency in young individuals.
Victoria Papke, Bonnie Klimes-Dougan, Siddhee Anand Sahasrabudhe, Bryon A. Mueller, Young Woo Park, Gülin Öz, Lynn E. Eberly, Michaelle E. DiMaggio-Potter, Reena V. Kartha, James Cloyd, Lisa Coles, Kathryn R. Cullen   +11 more
doaj   +1 more source

Exercise limitations in amyloid cardiomyopathy assessed by cardiopulmonary exercise testing—A multicentre study

ESC Heart Failure, Volume 12, Issue 2, Page 1326-1335, April 2025.
Abstract Aims Amyloid cardiomyopathy is caused by the deposition of light chain (AL) or transthyretin amyloid (ATTR) fibrils, that leads to a restrictive cardiomyopathy, often resulting in heart failure (HF) with preserved or reduced ejection fraction.
Robin Willixhofer, Mauro Contini, Michele Emdin, Damiano Magrì, Alice Bonomi, Elisabetta Salvioni, Fabrizio Celeste, Alberico Del Torto, Claudio Passino, Christophe D.J. Capelle, Chiara Arzilli, Emiliano Fiori, Nicolò Capra, Christina Kronberger, Nikita Ermolaev, Andreas Kammerlander, Beatrice Musumeci, Giuseppe Vergaro, Vincenzo Castiglione, René Rettl, Giacomo Tini, Andrea Baggiano, Iacopo Fabiani, Susanna Sciomer, Roza Badr Eslam, Piergiuseppe Agostoni   +25 more
wiley   +1 more source

Policy Networks and Policy Entrepreneurship in the EU: Explaining Structural Policy Change in Pharmaceutical Innovation Incentives and Health Technology Assessment

European Policy Analysis, EarlyView.
ABSTRACT Policy process research has excelled in explaining structural policy change within national settings, but extensions and applications to the EU level have long proven challenging for scholars. Given that the EU is currently experiencing its longest period of Treaty stability since the 1980s—having evolved into a sui generis political system ...
Vassilis Karokis‐Mavrikos
wiley   +1 more source

Drugs for exceptionally rare diseases: a commentary on Hughes et al [PDF]

Recently in this journal, Hughes and colleagues discussed special funding status to ultra-orphan drugs. They concluded that there should be a uniform policy for the provision of orphan drugs across Europe; that complete restriction was impractical, and ...
Claxton, K., McCabe, C., Raftery, J., Tsuchiya, A.   +3 more
core  

Children in need of medical innovation [PDF]

Children are therapeutic orphans and an underprivileged group in innovations derived from drug therapy. As the innovation process of pharmaceuticals is a long, risky and very costly business, economists typically emphasise lack of profit incentives and ...
Entorf, Horst, Fegert, Jörg, Kölch, Michael   +2 more
core  

Book Review: Deforming Tort Reform [PDF]

, 1990
The storms buffeting the tort system over the past two decades have come in three distinct waves. In the late 1960s, steep increases in the insurance costs incurred by health care providers protecting against negligence claims by patients triggered what ...
Page, Joseph A.
core   +1 more source

Drugs for exceptionally rare diseases: a commentary on Hughes et al [PDF]

, 2006
Recently in this journal, Hughes and colleagues discussed special funding status to ultra-orphan drugs. They concluded that there should be a uniform policy for the provision of orphan drugs across Europe; that complete restriction was impractical, and ...
Claxton, K., McCabe, C., Raftery, J., Tsuchiya, A.   +3 more
core  

The hope for neglected diseases: R&D incentives [PDF]

Neglected diseases are neglected because they cannot generate enough return on R&D to pharmaceutical firms. This paper analyzes and compares existing proposals for public intervention in R&D for neglected diseases.
Brigitte Granville, Eshref Trushin
core  

"Is the Copy Better than the Original? The Regulation of Orphan Drugs: a US-EU Comparative Perspective" [PDF]

, 2012
The US Orphan Drug Act of 1983 pioneered the regulation of this type of medicines, and its success encouraged other countries to enact similar legislation. Among these new orphan drug laws is the one that was drafted in the European Union in 2000.
Garcia, Anton Leis
core