Crouzon’s syndrome with adenotonsillitis: conventional surgery in altered anatomy. [PDF]
, 2013 Background/Objectives: Crouzon’s syndrome is characterized by premature closure of the cranial sutures, midface hypoplasia, orbital deformities & other associated abnormalities.Children with Crouzon syndrome frequently have obstructive sleep apnea ...
Appaji, Mohan +6 more
core +2 more sources
Optic Atrophy 1: The Conductor of Cellular Harmony and Age-Related Pathologies
aging and diseaseAs the population aging, the prevalence of age-related diseases is also rising. Mitochondrial malfunction is one of the hallmarks of aging, and optic atrophy type 1 (OPA1), a protein found in the inner membrane (IM) of mitochondrial, is essential to this process.
Ye, Xu +3 more
openaire +2 more sources
Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas +39 more
wiley +1 more source
Analyzing the ophthalmic red reflex test in children with congenital Zika syndrome [PDF]
Revista Brasileira de OftalmologiaObjective: To evaluate the red reflex test in children with congenital Zika syndrome in order to predict the occurrence of retinal lesion or optic nerve hypoplasia in these patients.
Marcia Beatriz Tartarella +8 more
doaj +1 more source
The Relationship of the Clinical Disc Margin and Bruch's Membrane Opening in Normal and Glaucoma Subjects. [PDF]
, 2016 PurposeWe tested the hypotheses that the mismatch between the clinical disc margin (CDM) and Bruch's membrane opening (BMO) is a function of BMO area (BMOA) and is affected by the presence of glaucoma.MethodsA total of 45 normal eyes (45 subjects) and 53
Amini, Navid +6 more
core
Clinical syndromes associated with Coenzyme Q10 deficiency. [PDF]
, 2018 Primary Coenzyme Q deficiencies represent a group of rare conditions caused by mutations in one of the genes required in its biosynthetic pathway at the enzymatic or regulatory level.
Alc\ue1zar-Fabra, Maria +2 more
core +1 more source
Meningovascular Inflammation in Cerebral Amyloid Angiopathy‐Related Cortical Superficial Siderosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT The role of inflammation in cortical superficial siderosis (cSS), a marker of cerebral amyloid angiopathy (CAA) linked to high hemorrhage risk, is unclear. We examined 15 patients with cSS using 3 T post‐contrast vessel wall MRI (VWI) and CSF analysis.
Philipp Arndt +8 more
wiley +1 more source
Wolfram syndrome: new mutations, different phenotype. [PDF]
PLoS ONE, 2012 BACKGROUND: Wolfram Syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness identified by the acronym "DIDMOAD".
Concetta Aloi +9 more
doaj +1 more source
OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion [PDF]
Brain, 2007 Dominant optic atrophy (DOA) is characterized by retinal ganglion cell degeneration leading to optic neuropathy. A subset of DOA is caused by mutations in the OPA1 gene, encoding for a dynamin-related GTPase required for mitochondrial fusion. The functional consequences of OPA1 mutations in DOA patients are still poorly understood.
ZANNA, CLAUDIA +12 more
openaire +3 more sources
Clustering Algorithm Reveals Dopamine‐Motor Mismatch in Cognitively Preserved Parkinson's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To explore the relationship between dopaminergic denervation and motor impairment in two de novo Parkinson's disease (PD) cohorts. Methods n = 249 PD patients from Parkinson's Progression Markers Initiative (PPMI) and n = 84 from an external clinical cohort.
Rachele Malito +14 more
wiley +1 more source