Results 81 to 90 of about 32,298 (248)

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

Paying for the Orphan Drug System: break or bend? Is it time for a new evaluation system for payers in Europe to take account of new rare disease treatments?

Orphanet Journal of Rare Diseases, 2012
Since its enactment in 2000, the European Orphan Medicinal Products Regulation has allowed the review and approval of approaching 70 treatments for some 55 different conditions in Europe. Success does not come without a price, however.
Hughes-Wilson Wills, Palma Ana, Schuurman Ad, Simoens Steven   +3 more
doaj   +1 more source

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

Epilepsia Open, EarlyView.
Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi, Umberto Costantino, Maria Teresa Di Claudio, Carmela Pia Ferro, Pietro Palumbo, Mario Benvenuto, Massimiliano Copetti, Leonardo D'Agruma, Massimo Carella, Marco Castori, Orazio Palumbo   +10 more
wiley   +1 more source

From first seizure to specific antiseizure medication in Dravet syndrome: Quantifying delays in the DS'coverED study

Epilepsia Open, EarlyView.
Abstract Objective Dravet syndrome (DS) is a rare early‐onset developmental and epileptic encephalopathy with persistent delays between seizure onset and diagnosis. The DS'coverED study aimed to characterize current diagnostic timelines by examining each step and its duration, identifying residual barriers, and actionable solutions to optimize the ...
Loucas Christodoulou, Maria Ballarà Petitbò, Sergio Aguilera Albesa, Simona Borroni, Perrine Hugon, Ratna Kumar, Tullio Messana, Pierre Meyer, Frédéric Villéga, Kerstin A. Klotz   +9 more
wiley   +1 more source

Neurolathyrism in Sub‐Saharan Africa—Assessing the Neurotoxic Risks of Lathyrus sativus Amid Drought and Food Security Challenges

Food Safety and Health, EarlyView.
Representation of grass pea consumption in drought‐stricken sub‐Saharan Africa sustains nutrition, but excess β‐ODAP exposure due to multiple reasons triggers neurolathyrism, a progressive neurotoxic disorder. ABSTRACT Neurolathyrism is a progressive motor neuron disease due to the consumption of Lathyrus sativus (grass pea) over long periods.
Biruk Demisse Ayalew, Muhammad Umar, Pakeezah Tabasum, Maria Qadri, Talha Farooq, Eskeatnaf Yosef Getachew, Zemichael Getu Alemayehu, Eden Haile Hagos, Hailemariam Shimelis Gebeyehu, Hanna Tsehay Abebe, Nuradin Abdi Ali, David Chinaecherem Innocent, Temesgen Mamo Sharew   +12 more
wiley   +1 more source

Determinants of orphan drug health technology assessment in South Korea: an empirical analysis

Frontiers in Pharmacology
BackgroundOrphan drug pricing in South Korea, including its workings and determinants, is a complicated aspect of the country’s healthcare system. Therefore, this study identified the factors associated with the pricing of orphan drugs in South Korea ...
Se Hee Lee, Sung Kyung Lee, Jong Hyuk Lee, Joon Seok Bang   +3 more
doaj   +1 more source

The Efficiency of the German Healthcare System: Some Puzzling Findings

The International Journal of Health Planning and Management, EarlyView.
ABSTRACT This article examines the cost‐effectiveness of the German healthcare system from the perspective of statutory health insurance (SHI). Using data for 2011–2014—the most recent period for which consistent national inputs are available—we compare a marginal, system‐wide cost‐effectiveness ratio with the cost‐effectiveness of newly approved ...
Afschin Gandjour
wiley   +1 more source

Strategies and mechanisms of precision genome engineering: From gene editing to genome writing

iMetaOmics, EarlyView.
In this review, we examined the progression of genome manipulation from stochastic nuclease‐mediated cutting toward precise editing and programmable genome writing. We discussed tools like multi‐kilobase RNA‐guided integrators and Artificial Intelligence (AI)‐designed effectors and showed how these advances enable researchers to treat genomes as ...
Kerui Huang, Jianhong Tian, Wenyan Zhao, Siqin Zhang, Lixuan Xiang, Meiqing Yang, Lu Liu, Yazhou Huang, Ningyun Zhang, Lei Sun, Peng Xie, Nanyu Kuang, Hong Zhou, Chengfeng Qiu, Jun Yan, Xiaocheng Jiang, Qiang Tu, Yun Wang, Haoliang Hu, Youming Zhang   +19 more
wiley   +1 more source

Bile acid metabolism and signaling in human and animal health: A One Health perspective

iMetaOmics, EarlyView.
Bile acids maintain host homeostasis through enterohepatic circulation, microbial transformation, and bile acid receptor signaling, thereby regulating glucose and lipid metabolism, intestinal barrier integrity, and immunity. These effects support human disease intervention and health‐oriented animal production, reducing drug dependence and residue ...
Lei Li, Shuai Liu, Zhijun Cao, Yangchun Cao, Shengru Wu, Lu Deng, Junhu Yao, Jun Zhang   +7 more
wiley   +1 more source

Maternal and infant gut microbiome

iMeta, EarlyView.
The maternal–infant continuum involves critical windows of host–microbiota co‐adaptation. Preconception, maternal and paternal microbiomes modulate immunity and reproduction. During pregnancy, a gut–placenta axis emerges, where microbial metabolites influence fetal growth or contribute to complications like gestational diabetes mellitus (GDM ...
Huidi Wang, Felicia Tin, Hui Chen, Fuxin Jiao, Min Wu, Shanshan Sun, Lisha Lin, Die Li, Huimin Zheng, Zhenxin Niu, Mengyao Lan, Bahtiyar Yilmaz, Johan G. Eriksson, Mengjia Wang, Andrew Macpherson, Jose C. Clemente, Jia Xu, Ri‐hua Xie, Xiaojiao Zheng, Tao Zhou, Jinfeng Wang, Wei Shen, Bing Huang, Xia Chen, Hai Li, Yan He   +25 more
wiley   +1 more source