Results 141 to 150 of about 72,686 (303)

A phenomap of TTR amyloidosis to aid diagnostic screening

ESC Heart Failure, Volume 12, Issue 2, Page 1113-1118, April 2025.
Abstract Cardiac amyloidosis due to transthyretin (ATTR) remains an underdiagnosed cause of cardiomyopathy. As awareness of the disease grows and referrals for ATTR increase, clinicians are likely to encounter more atypical forms of the condition in clinical practice.
Alexios S. Antonopoulos, Theodoros Tsampras, George Lazaros, Konstantinos Tsioufis, Charalambos Vlachopoulos   +4 more
wiley   +1 more source

Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study [PDF]

, 2006
BACKGROUND: Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset between age 10 and 22 years, cerebellar atrophy, peripheral neuropathy, oculomotor apraxia (OMA), and elevated serum alpha-fetoprotein (AFP) levels. Recessive mutations in
BANFI S, BARBIERI, FABRIZIO, CASALI C., CHESSA L, CRISCUOLO C, DE MICHELE, GIUSEPPE, DI GIANDOMENICO S, FILLA, ALESSANDRO, GALLOSTI L, GRIECO GS, MANCINI P, PIANE M, PIERELLI F, RIZZUTO N, SACCA', FRANCESCO, SANTORELLI FM   +15 more
core  

Deep phenotyping of heart failure with preserved ejection fraction through multi‐omics integration

European Journal of Heart Failure, EarlyView.
Deep phenotyping of of heart failure with preserved ejection fraction (HFpEF) through multi‐omics integration. AI, artificial intelligence. Aims Heart failure with preserved ejection fraction (HFpEF) has become the predominant form of heart failure and a leading cause of global cardiovascular morbidity and mortality.
Jakob Versnjak, Titus Kuehne, Pauline Fahjen, Nina Jovanovic, Ulrike Löber, Gabriele G. Schiattarella, Nicola Wilck, Holger Gerhardt, Dominik N. Müller, Frank Edelmann, Philipp Mertins, Roland Eils, Michael Gotthardt, Sofia K. Forslund, Benjamin Wild, Marcus Kelm   +15 more
wiley   +1 more source

Adverse Outcome Pathways Applied to Space Radiation Research

Environmental and Molecular Mutagenesis, EarlyView.
ABSTRACT Long‐duration spaceflight exposes astronauts to various stressors that can alter human physiology, potentially causing immediate and long‐term health effects. These stressors can damage biomolecules, cells, tissues, and organs, leading to adverse outcomes.
Vinita Chauhan, Veronica S. Grybas, Devyn Hoopfer, Casey Higginson, Elizabeth A. Ainsbury, Omid Azimzadeh, Afshin Beheshti, Steve Blattnig, Marjan Boerma, Sylvain V. Costes, Stephen Doty, Christelle Adam‐Guillermin, Nobuyuki Hamada, Patricia Hinton, Janice L. Huff, Robert Reynolds, Ruth C. Wilkins, Scott Wood, Carole L. Yauk   +18 more
wiley   +1 more source

Vitamin D reduces falls and hip fractures in vascular Parkinsonism but not in Parkinson’s disease

Therapeutics and Clinical Risk Management, 2013
Yoshihiro Sato,1 Jun Iwamoto,2 Yoshiaki Honda,1 Nobuko Amano3 1Department of Neurology, Mitate Hospital, Tagawa, Japan; 2Institute for Integrated Sports Medicine, Keio University School of Medicine, Tokyo, Japan; 3Department of Food and Nutrition ...
Sato Y, Iwamoto J, Honda Y, Amano N
doaj  

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature

Epileptic Disorders, EarlyView.
Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor, S. Sharma, A. Kaminska, R. Nabbout, N. Chemaly, M. Schiff, P. De Lonlay, M. Eisermann   +7 more
wiley   +1 more source

Lafora Disease Masquerading as Hepatic Dysfunction [PDF]

, 2018
Lafora disease is fatal intractable progressive myoclonic epilepsy. It is frequently characterized by epileptic seizures, difficulty walking, muscle spasms, and dementia in late childhood or adolescence.
Abdullah, Hafez Mohammad A., Ali, Nouman Safdar, Ilyas, Ghulam, Inayat, Faisal, Khan, Zarak H., Lodhi, Hanan T., Ullah, Waqas   +6 more
core   +1 more source

Gut‐microbiota‐brain Axis and post‐traumatic epilepsy

Epilepsia Open, EarlyView.
Abstract There has been growing evidence that perturbations in gut‐microbiota‐brain axis (GMBA) are involved in mechanisms of chronic sequelae of traumatic brain injury (TBI). This review discusses the connection between GMBA and post‐traumatic epilepsy (PTE), the latter being a common outcome of TBI.
Andrey Mazarati
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source