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Renal coloboma syndrome/dominant optic atrophy with severe retinal atrophy and de novo digenic mutations in PAX2 and OPA1
Renal coloboma syndrome (RCS) and dominant optic atrophy are mainly caused by heterozygous mutations in PAX2 and OPA1 , respectively. We describe a...
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Normal cohorts in automated brain atrophy estimation: how many healthy subjects to include?
ObjectivesThis study investigates the influence of normal cohort (NC) size and the impact of different NCs on automated MRI-based brain atrophy...
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Gromwell ameliorates glucocorticoid-induced muscle atrophy through the regulation of Akt/mTOR pathway
BackgroundMuscle atrophy is characterized by decreased muscle mass, function, and strength. Synthetic glucocorticoids, including dexamethasone...
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A Novel Grading System for Diffuse Chorioretinal Atrophy in Pathologic Myopia
IntroductionThis study aims to quantitatively assess diffuse chorioretinal atrophy (DCA) in pathologic myopia and establish a standardized...
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Electrophysiological findings in extensive macular atrophy with pseudodrusen
PurposeTo present electroretinogram findings in extensive macular atrophy with pseudodrusen (EMAP) and describe associated systemic factors.
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Atrophy of the cholinergic regions advances from early to late mild cognitive impairment
PurposeWe investigated the volumetric changes in the components of the cholinergic pathway for patients with early mild cognitive impairment (EMCI)...
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Multiple system atrophy: an update and emerging directions of biomarkers and clinical trials
Multiple system atrophy is a rare, debilitating, adult-onset neurodegenerative disorder that manifests clinically as a diverse combination of...
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Motor assessment of patients with multiple system atrophy: underuse of the Unified Multiple System Atrophy Rating Scale (UMSARS)
PurposeDespite the availability of the Unified Multiple System Atrophy (MSA) Rating Scale (UMSARS) for almost two decades, studies still use scales...
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A TRPV4 mutation caused Charcot-Marie-Tooth disease type 2C with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family: a case report and literature review
BackgroundCharcot-Marie-Tooth disease 2C (CMT2C) and scapuloperoneal spinal muscular atrophy (SPSMA) are different clinical phenotypes of TRPV4 ...
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Genetic evidence for the causal relationships between migraine, dementia, and longitudinal brain atrophy
BackgroundMigraine is a neurological disease with a significant genetic component and is characterized by recurrent and prolonged episodes of...
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Thigh ultrasound monitoring identifies muscle atrophy in mechanically ventilated pediatric patients
Over the last decade, ultrasonography has taken on an increasingly important role in the daily management of critically patients and has recently...
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OCT risk factors for 2-year foveal involvement in non-treated eyes with extrafoveal geographic atrophy and AMD
PurposeTo assess the relationship of optical coherence tomography (OCT) findings and progression to foveal atrophy in a cohort of eyes with...
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Regional hippocampal atrophy reflects memory impairment in patients with early relapsing remitting multiple sclerosis
BackgroundResearch work has shown that hippocampal subfields are atrophic to varying extents in multiple sclerosis (MS) patients. However, studies...
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Exploring Radiomics Features Based on H&E Images as Potential Biomarkers for Evaluating Muscle Atrophy: A Preliminary Study
Radiomics features have been widely used as novel biomarkers in the diagnosis of various diseases, but whether radiomics features derived from...
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The correlation of atrophy, traction and neovascularization in myopic choroidal neovascularization according to a novel myopic maculopathy classification system (atrophy (A), traction (T), neovascularization (N): ATN)
PurposeTo grade myopic choroidal neovascularization (CNV) patients according to the new myopic maculopathy classification (A: atrophy, T: traction,...
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Spinal cord and brain atrophy patterns in neuromyelitis optica spectrum disorder and multiple sclerosis
BackgroundSpinal cord and brain atrophy are common in neuromyelitis optica spectrum disorder (NMOSD) and relapsing-remitting multiple sclerosis...
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Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy
BackgroundGyrate atrophy of the choroid and retina is a rare autosomal recessive metabolic disorder caused by biallelic variants in the OAT gene,...
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Three Hertz postural leg tremor impairs posture maintenance in multiple system atrophy-cerebellar type
BackgroundThree-Hz postural leg tremor has recently been identified as highly prevalent in patients with the cerebellar type of multiple system...
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Rapidly progressive cerebral atrophy following a posterior cranial fossa stroke: Assessment with semiautomatic CT volumetry
BackgroundThe effect of posterior cranial fossa stroke on changes in cerebral volume is not known. We assessed cerebral volume changes in patients...
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Rare complication – skin atrophy – after systemic conservative therapy of infantile hemangioma
BackgroundHemangiomas, also called infantile hemangiomas (IH) or hemangiomas of infancy are the most frequently seen benign vascular tumors of...
