Results 101 to 110 of about 68,732 (285)

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

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  

Orphan products: an emerging trend in drug approvals [PDF]

Nature Reviews Drug Discovery, 2010
Timothy, Coté, Aditya, Kelkar, Kui, Xu, M Miles, Braun, M Ian, Phillips   +4 more
openaire   +2 more sources

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

Interleukin-1 blockade in recently decompensated systolic heart failure: study design of the recently decompensated heart failure anakinra response trial (RED-HART) [PDF]

, 2015
Heart Failure (HF) is a clinical syndrome characterized by dyspnea, fatigue, and poor exercise capacity due to impaired cardiac function. The incidence of HF is increasing and represents the leading cause of hospitalization in the United States among ...
Abbate Antonio, Abouzaki Nayef, Arena Ross, BIONDI ZOCCAI, GIUSEPPE, Canada Justin, CARBONE, SALVATORE, Oddi Erdle Claudia, Valle Raleigh Juan, Van Tassell Benjamin W   +8 more
core   +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

Drivers of Pharmaceutical Compounding: Regional Experience Analysis Using Irkutsk Pharmacy Organisations as a Case Study

Регуляторные исследования и экспертиза лекарственных средств
INTRODUCTION. National pharmacy compounding is a priority for providing the population with medicinal products, particularly the medicinal products lacking in the Russian Federation.
G. N. Kovalskaya, N. V. Verlan, E. N. Mikhalevich   +2 more
doaj   +1 more source

Cannabis sativa and the endogenous cannabinoid system: therapeutic potential for appetite regulation [PDF]

, 2011
The herb Cannabis sativa (C. sativa) has been used in China and on the Indian subcontinent for thousands of years as a medicine. However, since it was brought to the UK and then the rest of the western world in the late 19th century, its use has been a ...
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core   +3 more sources

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Clock gene dysregulation in epilepsy: A systematic review

Epilepsia Open, EarlyView.
Abstract Objective Epileptic seizures show a rhythmic pattern, being more frequent at particular times of the day (e.g., only occurring during sleep), suggesting a role of the circadian rhythm. Clock genes regulate the circadian rhythm and might be involved in the pathophysiology of epilepsy.
Guilherme Fernandes‐Campos, Arjune Sen, Francesca Panin, Krithika Sundararaman   +3 more
wiley   +1 more source