Results 191 to 200 of about 10,917,188 (341)

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Tree shrew model of early diabetic retinopathy reveals microvascular dysfunction and identifies phosphoserine aminotransferase 1 as a novel therapeutic target

Animal Models and Experimental Medicine, EarlyView.
We developed an animal model of early diabetic retinopathy (DR) in the tree shrew by feeding a high‐fat and high‐sugar diet in combination with STZ. Physiological and biochemical index detection, hematoxylin and eosin staining, and transmission electron microscopy were performed to examine DR.
Min Qiu, Shurui Huo, Wenguang Wang, Na Li, Qingwei Zeng, Xiaomei Sun, Jiejie Dai, Pinfen Tong, Yuanyuan Han, Ling Zhao, Caixia Lu   +10 more
wiley   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

Hyperreflective Foci in the Inner Nuclear Layer: Proof‐of‐Concept for an Optical Coherence Tomography Derived Microglia‐Related Marker in Multiple Sclerosis

Annals of Neurology, EarlyView.
The role of microglia has emerged as a critical driver of disease progression in multiple sclerosis (MS), but we lack broadly applicable monitoring tools. Here, we investigated whether hyperreflective foci (HRF), as detected by optical coherence tomography (OCT) within the inner nuclear layer (INL) of the retina, can be used as a marker for microglial ...
Jonathan A. Gernert, Laura M. Bartos, Tara Christmann, Hanna Zausinger, Luca N. Diedrich, Daniel Engels, Miriam Schlüter, Sarah Schlaeger, Sophia Stoecklein, Leonie F. Keidel, Tania Kümpfel, Martin Kerschensteiner, Matthias Brendel, Joachim Havla   +13 more
wiley   +1 more source

Pre‐Diagnostic Plasma Carotenoids, Tocopherols and Retinol Levels, and Risk of Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective Our goal was to examine whether pre‐diagnostic plasma carotenoids and tocopherols are associated with amyotrophic lateral sclerosis (ALS). Methods A nested case–control study within 4 United States cohorts, where 154 participants with pre‐diagnostic blood‐draw, were diagnosed during follow‐up with amyotrophic lateral sclerosis (ALS). Controls
Éilis J. O'Reilly, Kjetil Bjornevik, Jeremy D. Furtado, Alpa V. Patel, Ying Wang, Laurence N. Kolonel, Loïc Le Marchand, Alberto Ascherio   +7 more
wiley   +1 more source

Treatment of a Large Cohort of Childhood Chronic Noninfectious Uveitis in a Multicentric Large Study: Adalimumab Versus Methotrexate as First‐Line Therapy

Arthritis &Rheumatology, EarlyView.
Objective Treatment of childhood chronic idiopathic uveitis (cCIU) is predominantly based on studies in juvenile idiopathic arthritis–associated uveitis and expert opinion. Our aim was to report the treatment outcomes of our cohort of cCIU. Methods Retrospective multicenter study involving the rheumatology and ophthalmology units at Florence, Italy ...
Ilaria Maccora, Catherine Guly, Cinzia de Libero, Giulia Carreras, Athimalaipet V. Ramanan, Gabriele Simonini   +5 more
wiley   +1 more source

Clock genes regulate Ca2+ signaling and mitochondrial bioenergetics to inhibit Sjogren's disease

Arthritis &Rheumatology, Accepted Article.
Objective Although Ca2+ signaling and metabolism have been identified as key determinants for the development of Sjogren's disease (SjD), the intricate connection between them and salivary gland physiology remains poorly understood. Methods Fluorescence‐based Ca2+ imaging, RNA seq, and mitochondrial activity were used to investigate the effects of ...
Viktor R. Drel, Manigandan Venkatesan, Rahul S. Jasrotia, Yuyang Sun, Viviane Nascimento Da Conceicao, Neelanjan Vishnu, Shankara N Varadarajan, Venugopal R. Bovilla, Rajender K Motiani, Shobhan Gaddameedhi, Bibhuti B. Mishra, Muniswamy Madesh, Brij B. Singh   +12 more
wiley   +1 more source

Aqueous Humor Metabolomics in Different Stages of Diabetic Retinopathy Based on Ultra - Performance Liquid Chromatography - Tandem Mass Spectrometry

Diabetes, Metabolic Syndrome and Obesity
Zetong Nie,1,* Shaofang Pang,1,* Zhaoxiong Wang,2,* Meng Yang,1 Xiang Zhang,1 Haoxin Guo,1 Wenbo Li,1 Boshi Liu,1 Weihong Yu,3 Bojie Hu1 1Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin Branch of National ...
Nie Z, Pang S, Wang Z, Yang M, Zhang X, Guo H, Li W, Liu B, Yu W, Hu B   +9 more
doaj  

Ciliary Defects in Inherited Retinal Diseases. [PDF]

Adv Genet (Hoboken)
Guo G, Li L, Zhou J, Ran J.
europepmc   +1 more source

Cost–benefit analysis of screening programme for diabetic retinopathy in Bulgaria

British Journal of Clinical Pharmacology, EarlyView.
Aims Late‐diagnosed diabetic retinopathy (DR) is difficult and expensive to treat. Screening programmes can identify the disease early and reduce the costs of its future treatment. This study aims to analyse the cost–benefit of screening programmes for DR.
Iva Nenkova, Yoana Lilova, Alexander Oscar, Alina Levi, Maria Kamusheva, Guenka Petrova   +5 more
wiley   +1 more source