Results 51 to 60 of about 29,539 (245)

OBSTRUCTIVE SLEEP APNEA SYNDROME IN CHILDREN WITH TYPE II MUCOPOLYSACCHARIDOSIS (HUNTER SYNDROME)

open access: yesПедиатрическая фармакология, 2013
17 children received cardiorespiratory monitoring in order to evaluate spread and dynamics of changes in the primary obstructive sleep apnea syndrome (OSAS) parameters at type II mucopolysaccharidosis.
N. D. Vashakmadze   +8 more
doaj   +1 more source

Epileptic drop attacks: More than just atonic seizures

open access: yesEpilepsia Open, EarlyView.
Abstract “Drop attacks” are not officially defined by the International League Against Epilepsy. Seizures are characterized by a sudden loss of control over the trunk and posture, leading to falls and injuries, and resolving within a few seconds. Accurately diagnosing the type of seizure is usually difficult due to limitations in clinical documentation
Tomonori Ono   +3 more
wiley   +1 more source

Assessing cognition in autistic youth with and without attention‐deficit/hyperactivity disorder using the NIH Toolbox Cognition Battery: An Environmental influences on Child Health Outcomes‐Wide Cohort Study

open access: yesJCPP Advances, EarlyView.
Autistic individuals tend to experience difficulties with fluid cognition as found previously, with minimal impact of ADHD. However, there was a notable proportion of autistic individuals with average or superior cognitive performance, highlighting the importance of strength‐based and transdiagnostic research approaches.
Catrina A. Calub   +17 more
wiley   +1 more source

Outcomes in the Management of Pediatric Retrograde Cricopharyngeal Dysfunction

open access: yesThe Laryngoscope, EarlyView.
ABSTRACT Objective To review the presentation and treatment outcomes of pediatric patients with retrograde cricopharyngeal dysfunction (RCPD). Methods A retrospective chart review was performed on pediatric patients diagnosed with retrograde cricopharyngeal dysfunction (RCPD) and treated with cricopharyngeal botulinum toxin injection (CPBTI).
Aidan P. Wright   +3 more
wiley   +1 more source

Anesthetic management of a child with Hunter′s syndrome

open access: yesJournal of Anaesthesiology Clinical Pharmacology, 2012
Hunter′s syndrome is a member of a group of recessively inherited metabolic disorders termed mucopolysaccharidoses, caused by deficiency of lysosomal enzymes required for degradation of mucopolysaccharides or glycosaminoglycans, leading to accumulation ...
Jasmeet Kaur   +3 more
doaj   +1 more source

Discordance of Dopaminergic Dysfunction and Subcortical Atrophy by α‐Synuclein Status in Sporadic and Genetic Parkinson's Disease

open access: yesMovement Disorders, EarlyView.
Abstract Background Parkinson's disease (PD) is characterized by predominantly neuronal α‐synuclein pathology and dopaminergic dysfunction. Cerebrospinal fluid (CSF) seeding amplification assays (SAA) detect α‐synuclein aggregates in vivo, but not all patients with PD have a positive SAA.
Michael Tran Duong   +186 more
wiley   +1 more source

Hunter Syndrome [PDF]

open access: yes, 2020
Justin Rich   +2 more
  +4 more sources

MUCOPOLYSACCHARIDOSIS TYPE II

open access: yesПедиатрическая фармакология, 2011
Article is devoted to one of the orphan diseases — mucopolysaccharidosis (MPS), which is the result of any lysosomal enzyme deficiency (which determines the type of illness). The most common is the MPS type II (Hunter syndrome), developing as a result of
N.D. Vashakmadze   +6 more
doaj   +2 more sources

Intracranial findings of Hunter syndrome [PDF]

open access: yesPediatric Radiology, 2010
A 13-year-old boy presented with mental retardation, progressive hearing loss and coarsened facial features. Brain MRI demonstrated punctate and oblong CSF-equivalent cystic areas within the corpus callosum, basal ganglia and periventricular white matter (Figs. 1 and 2), with surrounding hyperintensity on T2-W and FLAIR images (Fig. 1).
Ramesh S, Iyer, Paritosh C, Khanna
openaire   +2 more sources

Long‐Term Exposure to Air Pollution and Incidence of Parkinson's Disease: A Danish Nationwide Administrative Cohort Study

open access: yesMovement Disorders, EarlyView.
Abstract Background Long‐term exposure to air pollution has been linked to Parkinson's disease (PD) incidence, yet evidence is mixed, partly because of challenges with PD diagnosis and definition. We examined this association in a nationwide administrative cohort.
Thomas Cole‐Hunter   +14 more
wiley   +1 more source

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