Results 151 to 160 of about 57,085 (307)
Health consumer complaints to the New Zealand Health and Disability Commissioner involving sonographers are rare, totalling 15 in the last 31 years and averaging 1.5 cases per year over the last decade. A large proportion of complaints involve an undetected finding, obstetric examination and private setting.
Martin Necas +5 more
wiley +1 more source
Abstract Background Bilateral globus pallidus internus deep brain stimulation (GPi‐DBS) is a proven safe and effective treatment in certain forms of idiopathic or inherited dystonia (ID/IN). Its effects in acquired dystonia such as in dyskinetic cerebral palsy (DCP) however vary widely.
Katerina Bernardi +16 more
wiley +1 more source
Movement Disorders in Developmental and Epileptic Encephalopathies
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad +2 more
wiley +1 more source
Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia
Abstract Background Pathogenic variants within the unique N‐terminal inactivation particle of FGF13 isoform A (FGF13A) have so far been associated only with an X‐linked dominant epileptic encephalopathy (DEE). Objective The aim was to expand the clinical and molecular spectrum of FGF13A‐related disorder.
Cyril Mignot +22 more
wiley +1 more source
Abstract Background Perinatal hypoxic–ischemic encephalopathy (HIE) is a severe condition resulting from impaired oxygen delivery to the developing brain, often leading to both motor deficits and dystonia‐dyskinetic syndromes (DDS). In selected cases, deep brain stimulation of the globus pallidus internus (GPi‐DBS) may provide a therapeutic option ...
Marylou Grasso +7 more
wiley +1 more source
Abstract Background Neurodevelopmental disorders feature various symptoms that frequently include seizures and motor manifestations, but their attribution to disruptions of specific circuits and molecular alterations is notoriously hard to establish, which limits therapeutic interventions.
Gloria Brunori +9 more
wiley +1 more source
Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell +6 more
wiley +1 more source
ABSTRACT Wheezing is a common respiratory symptom in infants and toddlers, and recurrent wheezing is a significant respiratory disorder affecting this age group. Given the multifactorial etiology of recurrent wheezing, clinical practice lacks standardized diagnostic and therapeutic protocols. Recent years have witnessed substantial progress in clinical
Committee of Pediatrics +16 more
wiley +1 more source
ABSTRACT Objective To examine the contribution of fetal growth restriction ultrasound phenotypes to adverse perinatal outcomes at term. Design Retrospective population‐based cohort study. Setting John Radcliffe Hospital, Oxford, UK where universal ultrasound at 35+1–36+6 weeks is performed. Population Congenital abnormalities and births before the scan
Elena D'Alberti +5 more
wiley +1 more source

