Results 101 to 110 of about 177,782 (297)

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

In vivo sectional imaging of the retinal periphery using conventional optical coherence tomography systems

Indian Journal of Ophthalmology, 2012
Optical coherence tomography (OCT) has transformed macular disease practices. This report describes the use of conventional OCT systems for peripheral retinal imaging.
Abhishek Kothari, V Narendran, V R Saravanan   +2 more
doaj   +1 more source

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

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 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

Voluntary running delays primary degeneration in rat retinas after partial optic nerve transection

Neural Regeneration Research, 2019
Running is believed to be beneficial for human health. Many studies have focused on the neuroprotective effects of voluntary running on animal models. There were both primary and secondary degeneration in neurodegenerative diseases, including glaucoma ...
Hong-Ying Li, Xi Hong, Mi Huang, Kwok-Fai So   +3 more
doaj   +1 more source

Peripheral Retinal Degenerations

Delhi Journal of Ophthalmology, 2010
The vast array of peripheral retinal degenerations leave an ophthalmologist with numerous possible differentials and prognosticators when an individual presents to him. The following review is an aid in understanding which degenerations make retina susceptible to a possible retinal detachment in near future; and are possible indicators for prophylactic
K Sudhamathi, Umah Venugopal, Ajay Sharma, Deependra V Singh   +3 more
openaire   +2 more sources

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

Mesenchymal stem cell–derived small extracellular vesicles enhance the therapeutic effect of retinal progenitor cells in retinal degenerative disease rats

Neural Regeneration Research
Our previous study demonstrated that combined transplantation of bone marrow mesenchymal stem cells and retinal progenitor cells in rats has therapeutic effects on retinal degeneration that are superior to transplantation of retinal progenitor cells ...
Chunge Ren, Min Chen, Bangqi Ren, Yuxiao Zeng, Qiang Tan, Qiyou Li, Xue Zhang, Yajie Fang, Yixiao Zhou, Weitao Zhang, Fang Chen, Baishijiao Bian, Yong Liu   +12 more
doaj   +1 more source

Multi-line Adaptive Perimetry (MAP): A New Procedure for Quantifying Visual Field Integrity for Rapid Assessment of Macular Diseases. [PDF]

, 2018
PurposeIn order to monitor visual defects associated with macular degeneration (MD), we present a new psychophysical assessment called multiline adaptive perimetry (MAP) that measures visual field integrity by simultaneously estimating regions associated
Biles, Mandy K, Davey, Pinakin G, Maniglia, Marcello, Seitz, Aaron R, Thurman, Steven M, Visscher, Kristina M   +5 more
core   +1 more source