Swept source optical coherence tomography and optical coherence tomography angiography in pediatric enhanced S-cone syndrome: a case report

ConclusionsSwept source structural optical coherence tomography (B scans and “en face” images) and optical coherence tomography angiography allowed the observation of retinal structural details and the involvement of each retinal layer and capillary plexus in enhanced S-cone syndrome. Of interest, neither of the twoNR2E3 gene variants found in this case report have been linked to any form of retinopathy.
Source: Journal of Medical Case Reports - Category: General Medicine Source Type: research

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Contributor : Pabodha HettigeSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusMuscular dystrophy with myositis (mdm) is a severe degenerative muscle disease arising from a spontaneous mutaton at the N2A-PEVK junction of titin protein. The affected mice show a complex disease phenotype, and more organism-wide spread response compared to other myopathies. The project objectives forcus on undertanding the response pattetern of different skelelal muscles to mdm.
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
This report covers the initial 24-week trial and the first 12 months of the VBP15-LTE trial (total treatment period 18 months). DMD trial participants (males, 4 to
Source: PLoS Medicine - Category: Internal Medicine Authors: Source Type: research
AbstractPurpose of ReviewDescemet membrane endothelial keratoplasty (DMEK) has become the treatment of choice for endothelial diseases such as Fuchs endothelial corneal dystrophy (FECD), especially in the United States and Europe. In this review, we give an overview of current knowledge about DMEK in Asian eyes and describe novel surgical modifications of this technique for these cases.Recent FindingsAlthough many scientific reviews about DMEK in Caucasian eyes have already been published, there is still little knowledge about clinical outcomes of DMEK in Asian eyes. This is of particular importance, as there are substanti...
Source: Current Ophthalmology Reports - Category: Opthalmology Source Type: research
We report a case of Stanford type A acute aortic dissection, in which coronary spastic angina caused the Bezold-Jarisch reflex in the acute phase.
Source: The Journal of Emergency Medicine - Category: Emergency Medicine Authors: Tags: Clinical Communications: Adult Source Type: research
Conclusion: In conclusion, AVMD is a genotypic and phenotypic heterogeneous disease. The genetic aetiology could not be explained by sequencing BEST1 and PRPH2 genes in the AVMD patients; however, the variant of PRPH2 could be a cause of predisposition relevant to the phenotype. PMID: 32942919 [PubMed - as supplied by publisher]
Source: Ophthalmic Genetics - Category: Opthalmology Tags: Ophthalmic Genet Source Type: research
To assess the correlation of corneal endothelial cell (CEC)- density to alterations of collagen composition of Descemet membrane (DM) in advanced Fuchs endothelial corneal dystrophy (FECD) and to image such changes by slit-lamp biomicroscopy in vivo.
Source: American Journal of Ophthalmology - Category: Opthalmology Authors: Tags: Original Articles Source Type: research
Duchenne muscular dystrophy (DMD) is an X-linked recessive disease that affects approximately 1 in 4000-6000 boys, making it the most common form of muscular dystrophy [1]. Mutations in the DMD gene cause loss of the protein dystrophin, which normally buttresses the muscle cell membrane. Resulting membrane instability leads to repeated cycles of skeletal and cardiac myofiber necrosis and regeneration, with muscle being replaced over time by connective tissue and fat [2]. Muscles required for ventilation are severely affected, with marked changes in the diaphragm [3].
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
ConclusionThe spinal and supraspinal reflex excitability of older adults increased during local knee-heating application. The improved motor drive transmission observed in older adults was accompanied by increased voluntarily induced torque production of the ankle muscles during isometric/isokinetic contractions.
Source: European Journal of Applied Physiology - Category: Physiology Source Type: research
This article charts the history of deep brain stimulation (DBS) as applied to alleviate a number of neurological disorders, while in parallel mapping the electrophysiological circuits involved in generating and integrating neural signals driving the cardiorespiratory system during exercise. With the advent of improved neuroimaging techniques, neurosurgeons can place small electrodes into deep brain structures with a high degree accuracy to treat a number of neurological disorders, such as movement impairment associated with Parkinson's disease and neuropathic pain. As well as stimulating discrete nuclei and monitoring auto...
Source: Comprehensive Physiology - Category: Physiology Tags: Compr Physiol Source Type: research
This article provides an overview of the afferent, exchange and efferent vessels in bone and marrow and presents the morphological layout of these blood vessels regarding blood flow dynamics. In addition, this article discusses how bone blood vessels participate in bone development, maintenance, and repair. Further, mechanical loading-induced bone adaptation is presented regarding interstitial fluid flow and pressure, as regulated by the vascular system. The role of the sympathetic nervous system is discussed in relation to blood vessels and bone. Finally, vascular participation in bone accrual with intermittent parathyroi...
Source: Comprehensive Physiology - Category: Physiology Tags: Compr Physiol Source Type: research
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