Results 111 to 120 of about 253,388 (311)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Urinary felinine excretion in intact male cats is increased by dietary cystine

, 2008
Felinine is a branched-chain sulfur amino acid present in the urine of certain Felidae, including domestic cats. The objective of the present study was to determine if additional cystine and/or dietary N would increase felinine and N-acetylfelinine ...
Rogers, Q.R., Morton, R.H., Weidgraaf, K., Rutherfurd-Markwick, K.J., Hendriks, W.H.   +4 more
core   +1 more source

Safety and Tolerability of Givinostat: Evidence From Real‐World and Clinical Practice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of our study was to establish the prevalence of adverse events in a real‐world setting in boys living with Duchenne muscular dystrophy (DMD) treated with givinostat as part of an Expanded Access Program (EAP) in Italy. Methods The cohort included 90 ambulant boys, with age when treatment started between 6 and 23 years (mean ...
Marika Pane, Anna Capasso, Chiara Arpaia, Adele D’Amico, Emilio Albamonte, Federica Trucco, Maria Sframeli, Riccardo Masson, Francesca Magri, Luca Bello, Romina Venditti, Claudia Dosi, Michela Catteruccia, Michele Tosi, Claudio Bruno, Sonia Messina, Giacomo Comi, Elena Pegoraro, Valeria A. Sansone, Eugenio Mercuri   +19 more
wiley   +1 more source

Beneficial effects of the RESMENA Dietary pattern on oxidative stress in patients suffering from metabolic syndrome with hyperglycemia are associated to dietary TAC and fruit consumption

, 2013
Hyperglycemia and oxidative stress are conditions directly related to the metabolic syndrome (MetS), whose prevalence is increasing worldwide. This study aimed to evaluate the effectiveness of a new weight-loss dietary pattern on improving the oxidative ...
Iglesia, R. (Rocío) de la, Martinez, J.A. (José Alfredo), Celada, P. (Paloma), Lopez-Legarrea, P. (Patricia), Sanchez-Muniz, F.J. (Francisco J.), J. Martinez, Patricia Lopez-legarrea, Paloma Celada, Rocio De La Iglesia, Francisco Sánchez-Muniz, De La Iglesia, Rocio, Celada, Paloma, Zulet, María Ángeles, Lopez Legarrea, Patricia, Martínez, J. Alfredo, M. Angeles Zulet, Sánchez Muniz, Francisco José, Zulet, M.A. (María Ángeles), J. Alfredo Martinez, Francisco J. Sánchez-muniz, M. Zulet   +20 more
core   +1 more source

Associations of Sleep and Shift Work With Osteoarthritis Risk

Arthritis Care &Research, EarlyView.
Objective Daily rhythms may be critical for maintaining homeostasis of joint tissues. We aimed to investigate the relationships among circadian clock disruption, sleep, and osteoarthritis (OA) risk in humans. Methods In the UK Biobank, a prospective 500,000–person cohort, we evaluated associations among sleep duration, sleeplessness/insomnia, and shift
Elizabeth L. Yanik, Abigail Bridgeman, Erik D. Herzog, Vy Pham, Bradley A. Evanoff, Farshid Guilak   +5 more
wiley   +1 more source

Micronutrient intake stratified by dietary pattern.

, 2015
Estimated micronutrient intake stratified by dietary pattern. Dotted lines show dietary standards according to Japan’s clinical guidelines (Dietary recommendations for chronic kidney disease, 2007, Japanese Society of Nephrology).
Yutaka Kiyohara (534401), Tadao Akizawa (316095), Takashi Akiba (685105), Masaharu Nagata (685100), Takanari Kitazono (483472), Shunichi Fukuhara (316094), Takafumi Wakita (457602), Satoru Fujimi (685102), Akira Saito (244888), Shingo Fukuma (685099), Kazuhiko Tsuruya (636724), Toshiharu Ninomiya (141498), Hisako Yoshida (685101), Tomoko Shirota (685104), Kazuhiro Uchida (685103)   +14 more
core   +1 more source

Is dietary pattern of schizophrenia patients different from healthy subjects? [PDF]

, 2007
Background There are limited findings about dietary patterns and food preferences among patients suffering from schizophrenia. The main objective of this study was therefore to compare the nutritional pattern of schizophrenia patients with that of ...
Amani Reza, Reza Amani
core   +1 more source

Evaluation of dietary patterns among Norwegian postmenopausal women using plasma carotenoids as biomarkers

, 2015
A number of studies have examined dietary patterns in various populations. However, to study to what extent such patterns capture meaningful differences in consumption of foods is of interest.
Andersen, Lene F., Veierød, Marit B., Markussen, Marianne S., Ursin, Giske, Ellingjord-Dale, Merete, Blomhoff, Rune, Sakhia, Amrit K.   +6 more
core   +1 more source

Dietary patterns derived by reduced rank regression are associated with lipid disorders among Korean adults: a cross-sectional analysis

Lipids in Health and Disease
Background Lipid disorders are a potent risk factor for cardiovascular diseases. Moreover, the intake of dietary fatty acids has been closely related to blood lipid levels.
Hyun Ah Kim, Hye Ran Shin, SuJin Song
doaj   +1 more source

Does Long‐Term Lower Extremity Strength Training in Adults With Knee Osteoarthritis and Varus Alignment Reduce Knee Joint Loading During Gait?

Arthritis Care &Research, EarlyView.
Objective We examined whether 18 months of strength training in individuals with knee varus alignment and medial tibiofemoral osteoarthritis (OA) reduced knee joint loads during walking compared to an attention control group. Methods This study was a secondary analysis of a randomized clinical trial that compared the effects of strength training to a ...
Stephen P. Messier, Matthew N. Vigliotti, Paige E. Rice, Brian Pietrosimone, Shannon L. Mihalko, Edward H. Ip, Richard F. Loeser, David J. Hunter, Ali Guermazi, Ryan Hill, Santiago Saldana, Kim L. Bennell, Paul DeVita   +12 more
wiley   +1 more source