Results 81 to 90 of about 2,125,068 (305)

Metabolic abnormalities and reprogramming in cats with naturally occurring hypertrophic cardiomyopathy

ESC Heart Failure, Volume 12, Issue 2, Page 1256-1270, April 2025.
Abstract Background and aims The heart is a metabolic organ rich in mitochondria. The failing heart reprograms to utilize different energy substrates, which increase its oxygen consumption. These adaptive changes contribute to increased oxidative stress.
Qinghong Li, Max Homilius, Erin Achilles, Laura K. Massey, Victoria Convey, Åsa Ohlsson, Ingrid Ljungvall, Jens Häggström, Brittany Vester Boler, Pascal Steiner, Sharlene Day, Calum A. MacRae, Mark A. Oyama   +12 more
wiley   +1 more source

Vitamin D levels and bone mineral density in inborn errors of metabolism requiring specialised diets

, 2019
Objective: To evaluate vitamin D levels and bone mineral density in patients with dietary limitations due to inborn errors of metabolism (IEM) and its correlation with ...
Turner, LEYLA, Olgac, A., İNCİ, ASLI, Inci, A., Ezgu, FATİH SÜHEYL, Tumer, L., Olgac, Asburce, Okur, I., BİBEROĞLU, GÜRSEL, Biberoglu, G., Ezgu, F., OKUR, İLYAS, Asburce Olgac, Asli Inci, Leyla Tumer, Gursel Biberoglu, Ilyas Okur, Fatih Ezgu   +17 more
core   +1 more source

Left atrial function in uraemic patients: Four‐dimensional automatic left atrial quantitative technology study

ESC Heart Failure, Volume 12, Issue 2, Page 1316-1325, April 2025.
Abstract Objective This study aimed to evaluate the utility of left atrial volume and function in uraemic patients using four‐dimensional automatic left atrial quantification (4D auto LAQ) technology. Methods Thirty‐four undialysed uraemic patients (U‐ND group), 60 dialysed uraemic patients (U‐D group), and 32 healthy volunteers (N group) were enrolled
Bing Li, Meihua Chen, Xuning Huang
wiley   +1 more source

Occasional seizures, epilepsy, and inborn errors of metabolism

, 2014
Seizures are a common paediatric problem, with inborn errors of metabolism being a rare underlying aetiology. The clinical presentation of inborn errors of metabolism is often associated with other neurological symptoms, such as hypotonia, movement ...
Dulac, Olivier, Gataullina, Svetlana, Wolf, Nicole I, Plecko, Barbara, Wolf NI, Dulac O, Gataullina S, Plecko B   +7 more
core   +1 more source

Serum methylmalonic acid levels and epilepsy prevalence: Association analysis, exploratory mediation, and clinical corroboration

Epileptic Disorders, EarlyView.
Abstract Objective This study aimed to investigate the association between methylmalonic acid (MMA) and epilepsy prevalence and to explore potential inflammatory and nutritional pathways underlying this association. Methods This study included adults aged ≥ 20 years from the National Health and Nutrition Examination Survey (NHANES) 2011–2014.
Ningyu Wei, Ning Huang, Haipeng Chen, Rui Tang, Yuan Cheng, Xiang Zhang   +5 more
wiley   +1 more source

Plasma C24:0- and C26:0-lysophosphatidylcholines are reliable biomarkers for the diagnosis of peroxisomal β-oxidation disorders

Journal of Lipid Research
The gold-standard diagnostic test for peroxisomal disorders (PDs) is plasma concentration analysis of very long-chain fatty acids (VLCFAs). However, this method’s time-consuming nature and limitations in cases which present normal VLCFA levels ...
Blai Morales-Romero, José Manuel González de Aledo-Castillo, Cristina Fernández Sierra, Carmen Martínez Carreira, Carles Zaragoza Bonet, Rosa Fernández Bonifacio, Maria Antònia Caro Miró, Ana Argudo-Ramírez, Rosa María López Galera, Judit García-Villoria   +9 more
doaj   +1 more source

Cyclic vomiting syndrome versus inborn errors of metabolism: A review with clinical recommendations [PDF]

, 2016
BACKGROUND: Inborn errors of metabolism are on the differential for patients presenting with a cyclic vomiting syndrome phenotype. Classes of disorders to consider include: mitochondrial disorders, fatty acid oxidation disorders, urea cycle defects ...
Gelfand, Amy A, Gallagher, Renata C
core   +1 more source

The effect of antiseizure medications on the exposure to combined oral contraceptives: A systematic review and network meta‐analysis

Epileptic Disorders, EarlyView.
Abstract Objective Current recommendations for prescribing combined oral contraceptives (COCs) to people with epilepsy are often conflicting, particularly for weak inducers of cytochrome P450 3A4. We aimed to critically review the literature and compare the antiseizure medication (ASM)‐induced changes in exposure to COC components.
Hagar Cohen, Amnah Omar Mahajna, Tomer Ben‐Shushan, Ilan Matok, Sara Eyal   +4 more
wiley   +1 more source

How should etiology change the classification of the epilepsies? Report from the ILAE 2021–2025 Terminology Commission

Epilepsia, EarlyView.
Abstract The classification of the epilepsies has traditionally relied on clinical and electroencephalographic features. However, advancements in molecular genetics, neuroimaging, and our understanding of epilepsy pathophysiology necessitate a shift toward an etiology‐based approach.
Nicola Specchio, Stéphane Auvin, Francesca Bisulli, Scott Demarest, Elena Gardella, Angelina Kakooza Mwesige, Rima Nabbout, Alshimaa S. Othman, Kollencheri Puthenveettil Vinayan, Robyn Whitney, Elaine Wirrell, Hideo Yamanouchi, Ji Yeoun Yoo, Sameer M. Zuberi, J. Helen Cross, Ingrid E. Scheffer   +15 more
wiley   +1 more source

Treatment of inborn errors of metabolism [PDF]

Molecular Cytogenetics, 2014
Inborn errors of metabolism (IEM), though individually rare are collectively common. Average incidence of 50+ common IEMs is considered to be approx 1 in 1,000 live births. With annual birth rate of approximately 25 million babies in India, we can expect at least 25,000 babies being born with IEM in India and hence it is a significant burden to the ...
openaire   +2 more sources