Results 81 to 90 of about 174,613,300 (296)

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

Condução inicial de paciente com erro inato do metabolismo em hospital de pequeno porte [PDF]

Residência Pediátrica
Propionic acidemia is part of the organic acidemias that constitute a group of inherited autosomal recessive diseases caused by the deficiency of enzymes involved in the catabolism of branched-chain amino acids resulting in the tissue accumulation of one
Carla Diniz Dias Fernandes, Yasmin Lima Witzel, Laryssa Gomes Heredia, Carolina Toledo Scarpa, Karina Paula Borges, Rosa Cristina Coutinho   +5 more
doaj   +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

Tandem Mass Neonatal Screening in Taiwan—Report from One Center

Journal of the Formosan Medical Association, 2006
Neonatal screening using tandem mass spectrometry (MS/MS) started in Taiwan in 2000. We evaluated the efficacy of this system by analyzing the frequency of diseases and the outcome of the patients identified.
Hsiang-Po Huang, Kai-Lin Chu, Yin-Hsiu Chien, Ming-Lee Wei, Shu-Tzu Wu, Shiao-Fang Wang, Wuh-Liang Hwu   +6 more
doaj   +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

Frequency inborn error of mitochondrial function in Mosul and Kurdistan region

Iraqi Journal of Pharmaceutical Sciences, 2020
This work aimed to estimate the frequency of mitochondrial inborn errors of metabolism (MIEMs) in patients presenting with family history and IEM-picture who referred for advance IEM assay in Mosul province and Kurdistan region.
Ashwaq N. Abbas, Mwafak K. Hasan, Muhammad A. Ahmed   +2 more
doaj   +1 more source

Inborn errors of metabolism causing epilepsy. [PDF]

, 2013
Seizures may be the first and the major presenting feature of an inborn error of metabolism (IEM), for example in a neonate with pyridoxine-dependent epilepsy.
Rahman, S, Clayton, PT, Footitt, EJ, Varadkar, S   +3 more
core  

Update on Neuropathies in Inborn Errors of Metabolism

, 2021
Neuropathies are relatively common in inborn errors of metabolism (IEMs); however, due to the early onset and severe, progressive course of many IEMs, they have not been very well researched yet.
Renata Pająk, Natalia Będkowska, Ewelina Mendela, Justyna Paprocka   +3 more
core   +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

Phenylketonuria: An Inborn Error of Phenylalanine Metabolism

, 2008
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine (Phe) metabolism resulting from deficiency of phenylalanine hydroxylase (PAH).
Mamotte, Cyril, Williams, R., Burnett, J.   +2 more
core   +1 more source