Mechanisms of disease II: cellular protein quality control.

abstract：:Many inherited metabolic diseases or inborn errors of metabolism (IEM) cause movement disorders in children. This review focuses on chorea, dystonia, myoclonus, tremor, and parkinsonism. Broad neurometabolic categories commonly responsible for pediatric movement disorders include mitochondrial cytopathies, organic aci...

journal_title：Seminars in pediatric neurology

authors： Christensen CK,Walsh L

更新日期：2018-04-01 00:00:00

abstract：:In this review, we discuss the important pathological lesions observed in temporal lobectomies and neocortical resections performed for medically refractory seizures in children. A higher percentage of pediatric cases appear to be "lesional" with computed tomography (CT) and magnetic resonance imaging (MRI) and abnorm...

journal_title：Seminars in pediatric neurology

authors： Jay V,Becker LE

更新日期：1995-09-01 00:00:00

abstract：:Adults treated in infancy for conditions such as spina bifida and hydrocephalus are not cured of their conditions even after reaching adulthood. However, patients who have received coordinated care within a children's facility are unlikely to find the same type of coordinated care when they become adults. This article...

journal_title：Seminars in pediatric neurology

authors： Rekate HL

更新日期：2009-03-01 00:00:00

abstract：:The occurrence of seizures in the sleep state is observed in nearly one third of patients. This is caused by an intimate relationship between the physiological state of sleep and the pathological process underlying epileptic seizures. Both sleep and sleep deprivation influence the frequency of epileptiform discharges ...

journal_title：Seminars in pediatric neurology

authors： Kotagal P,Yardi N

更新日期：2008-06-01 00:00:00

abstract：:Seizures are a common complication of pediatric brain tumors and their treatment. This article reviews the epidemiology, evaluation, and treatment of seizures in children with brain tumors. Seizures in known brain tumor patients may signify tumor progression or recurrence, or treatment-related brain damage, as well as...

journal_title：Seminars in pediatric neurology

authors： Wells EM,Gaillard WD,Packer RJ

更新日期：2012-03-01 00:00:00

abstract：:The organization of language-relevant brain systems was examined in normally developing and language-impaired children. Atypical patterns of brain activity were observed in subsets of children with specific language impairment (SLI) for both sensory (auditory and visual) and language processing. However, it was not th...

journal_title：Seminars in pediatric neurology

authors： Mills DL,Neville HJ

更新日期：1997-06-01 00:00:00

abstract：:The nature of sleep-related breathing problems varies with age. Ventilatory function may be compromised at the level of the brainstem, the autonomic nerves, or the upper airway musculature. These disorders are state-dependent, being impacted by both rapid eye movement and non-rapid eye movement sleep, and also by the ...

journal_title：Seminars in pediatric neurology

authors： Kotagal S

更新日期：2003-12-01 00:00:00

abstract：:A 6-year-old girl had reduced fetal movements, numerous apneic spells, muscle hypotonia, and developmental motor delay. Her muscle biopsy tissue showed variation in myofiber diameters, small minicores by electron microscopy, and near-uniformity of type I fibers. Although no mutations were detected in RYR1, SEPN1, and ...

journal_title：Seminars in pediatric neurology

authors： Radke J,Dreesmann M,Radke M,von Moers A,Abicht A,Stenzel W,Goebel HH

更新日期：2018-07-01 00:00:00

abstract：:A brain, a neural structure located in the head, differs from a ganglion by the following characteristics: (1) a brain subserves the entire body, not just restricted segments; (2) it has functionally specialized parts; (3) it is bilobar; (4) commissures and neurons form the surface with axons in the central core; (5) ...

journal_title：Seminars in pediatric neurology

authors： Sarnat HB,Netsky MG

更新日期：2002-12-01 00:00:00

abstract：:Although no single neurological manifestation is specific of mitochondrial encephalopathies, several neurological syndromes are clearly suggestive of the diagnosis. Muscle biopsy for histochemicals, biochemical, and mitochondrial DNA studies is frequently necessary to establish diagnosis of mitochondrial encephalopath...

journal_title：Seminars in pediatric neurology

authors： Maertens P

更新日期：1996-12-01 00:00:00

abstract：:Headache is a common problem in children and adolescents. Its recurrent and disabling nature may lead to use of neuroimaging to exclude secondary causes of headache such as Chiari I malformation (CM I). CM I has a variety of presentation with headache being the most common symptom. CM I can be asymptomatic and is also...

journal_title：Seminars in pediatric neurology

authors： Victorio MC,Khoury CK

更新日期：2016-02-01 00:00:00

abstract：:Autism spectrum disorder (ASD) is a multifactorial, pervasive neurodevelopmental disorder defined by the core symptoms of significant impairment in social interaction and communication as well as restricted, repetitive patterns of behavior. In addition to these core behaviors, persons with ASD frequently have associat...

journal_title：Seminars in pediatric neurology

authors： Mostafavi M,Gaitanis J

更新日期：2020-10-01 00:00:00

abstract：:The craniovertebral junction is the most complex of the axial skeleton, residing between the skull and the upper cervical spine. Congenital, developmental, and acquired bony abnormalities result in compression and distortion of the neural structures, the vertebrobasilar vascular system, and the cerebrospinal fluid cha...

journal_title：Seminars in pediatric neurology

authors： Menezes AH

更新日期：1997-09-01 00:00:00

abstract：:Velocardiofacial syndrome, also called Shprintzen syndrome or DiGeorge sequence, is one of the most common genetic disorders in humans. Caused by a microdeletion on chromosome 22, it manifests in a remarkable variety of symptoms in multiple systems. The most frequent anomalies involve palatal function, facial features...

journal_title：Seminars in pediatric neurology

authors： Hay BN

更新日期：2007-09-01 00:00:00

abstract：:In this article, I consider in what sense bioethics is philosophical. Philosophy includes both analysis and synthesis. Analysis focuses on central concepts in a domain, for example, informed consent, death, medical futility, and health. It is argued that analysis should avoid oversimplification. The synthesis or synop...

journal_title：Seminars in pediatric neurology

authors： Horn P

更新日期：2015-09-01 00:00:00

abstract：:Neurodegeneration with brain iron accumulation (NBIA) defines a wide spectrum of clinical entities characterized by iron accumulation in specific regions of the brain, predominantly in the basal ganglia. We evaluated the presence of FA2H and C19orf12 mutations in a cohort of 46 Italian patients with early onset NBIA, ...

journal_title：Seminars in pediatric neurology

authors： Panteghini C,Zorzi G,Venco P,Dusi S,Reale C,Brunetti D,Chiapparini L,Zibordi F,Siegel B,Garavaglia B,Simonati A,Bertini E,Nardocci N,Tiranti V

更新日期：2012-06-01 00:00:00

abstract：:An acute flaccid paraparesis or ascending quadriparesis in an infant or child constitutes a very important pediatric neurology emergency. The Guillain-Barré syndrome (GBS) is the most frequent cause. This is primarily an autoimmune, post-infectious, demyelinating, peripheral nervous system process. A small percentage ...

journal_title：Seminars in pediatric neurology

authors： Jones HR Jr

更新日期：2000-06-01 00:00:00

abstract：:Autoimmunity is being increasingly recognized as a cause of neurologic presentations both inside and outside the intensive care unit (ICU) setting. Pediatric autoimmune neurologic diseases likely to be seen in the ICU include autoimmune encephalitidies such as N-Methyl-D-aspartate (NMDA) receptor encephalitis, central...

journal_title：Seminars in pediatric neurology

authors： Benson LA,Olson H,Gorman MP

更新日期：2014-12-01 00:00:00

abstract：:Transition from pediatric to adult healthcare is a well-established challenge for individuals with neurodevelopmental disorders like cerebral palsy. With regard to ethics, some of the key aspects to explore include the following: if and how individuals feel respected during the transition process; if and how their val...

journal_title：Seminars in pediatric neurology

authors： Larivière-Bastien D,Bell E,Majnemer A,Shevell M,Racine E

更新日期：2013-06-01 00:00:00

abstract：:Advances in infant cardiac surgery have resulted in a dramatic decline in mortality rates; however, neurological morbidity remains an important concern. The effectiveness of a number of interventional strategies to prevent or minimize brain injury during open heart surgery are currently being investigated. This articl...

journal_title：Seminars in pediatric neurology

authors： du Plessis AJ,Johnston MV

更新日期：1999-03-01 00:00:00

abstract：:The ultimate goal of treating status epilepticus is to provide the best opportunity for a good outcome. This review discusses the current literature on the outcome after status epilepticus in children, including the risk of recurrence, morbidity, and mortality. The outcome seems most dependent on etiology, with age an...

journal_title：Seminars in pediatric neurology

authors： Ostrowsky K,Arzimanoglou A

更新日期：2010-09-01 00:00:00

abstract：:The discovery of new cytogenetic and molecular genetic techniques and principles has been explosive in recent years. A secure diagnosis based on molecular evidence has become possible for many syndromes previously only clinically defined, which has helped enormously in predicting children's developmental progress, in ...

journal_title：Seminars in pediatric neurology

authors： Macmillan C

更新日期：1998-03-01 00:00:00

abstract：:Two consanguineous siblings presented with developmental regression and emerging spasticity. Cranial magnetic resonance imaging in both showed diffuse leukoencephalopathy. Further investigation established the siblings as having complex 1 deficiency consequent to a novel homozygous mutation in NDUFV1, a nuclear-encode...

journal_title：Seminars in pediatric neurology

authors： Breningstall GN,Shoffner J,Patterson RJ

更新日期：2008-12-01 00:00:00

abstract：:Intermediate filament (IF) proteins are cytoplasmic and nuclear cytoskeletal proteins. Of the ~70 IF proteins, nearly 12 are found in the nervous system, where their expression is largely cell-type specific. Astrocytes express glial fibrillary acidic protein (GFAP), whereas different neuron types contain neurofilament...

journal_title：Seminars in pediatric neurology

authors： Quick Q,Paul M,Skalli O

更新日期：2015-03-01 00:00:00

abstract：:Epilepsy in children is mostly diagnosed and treated in an ambulatory office setting. This article reviews the literature and offers opinions about the best practice from the time of diagnosis through to remission and beyond. The diagnosis and assignment of an epilepsy syndrome may be difficult, and even experts disag...

journal_title：Seminars in pediatric neurology

authors： Camfield P,Camfield C

更新日期：2006-12-01 00:00:00

abstract：:The possibility of sudden unexpected death in people with epilepsy (SUDEP) is very frightening for parents of a child with epilepsy. The mechanism for SUDEP is unclear but is probably most commonly related to postictal respiratory insufficiency. Occasionally the cause is a cardiac arrhythmia induced by a seizure. Even...

journal_title：Seminars in pediatric neurology

authors： Camfield P,Camfield C

更新日期：2005-03-01 00:00:00

abstract：:Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with variable expression. The complications are age specific. Neurologic complications include tumors of the peripheral nerves, nerve roots, and plexi; spinal cord compression; dural ectasias; learning disabilities; attention deficit; headaches; seizures...

journal_title：Seminars in pediatric neurology

authors： Tonsgard JH

更新日期：2006-03-01 00:00:00

abstract：:This article contains a discussion and detailed pictorial account of diagnostic and neurosurgical therapeutic procedures used to help pediatric patients who have medically intractable epilepsy. The operations discussed are placement of sphenoidal electrodes, strips and grids, temporal and extratemporal resections, cor...

journal_title：Seminars in pediatric neurology

authors： Iskandar BJ,Ramirez LF

更新日期：2000-09-01 00:00:00

abstract：:Infections of the central nervous system are a significant cause of neurologic dysfunction in resource-limited countries, especially in Africa. The prevalence is not known and is most likely underestimated because of the lack of access to accurate diagnostic screens. For children, the legacy of subsequent neurodisabil...

journal_title：Seminars in pediatric neurology

authors： Mallewa M,Wilmshurst JM

更新日期：2014-03-01 00:00:00

abstract：:The cerebral cortex is the area of the brain where higher-order cognitive processing occurs. The 2 hemispheres of the cerebral cortex communicate through one of the largest fiber tracts in the brain, the corpus callosum. Malformation of the corpus callosum in human beings occurs in 1 in 4000 live births, and those aff...

journal_title：Seminars in pediatric neurology

authors： Donahoo AL,Richards LJ

更新日期：2009-09-01 00:00:00