Abstract：
:The protein surplus myopathies have emerged as a newly recognized subgroup of morphologically defined myopathies within the spectrum of congenital myopathies because of the accumulation of protein aggregates, some of them mutant proteins. Currently, nosologic, including molecular criteria include desmin-related myopathies, actinopathies, and hereditary inclusion body myopathies, whereas hyaline body myopathy is still a putative form of protein surplus myopathy because of lack of any molecular data. The congenital myopathies (CM), foremost including nemaline and myotubular myopathies, have given evidence that, despite their epidemiologic rarity, the molecular age has dawned in CM and has even revealed surprising new nosologic features requiring reassessment and reclassification of certain CM. It is to be expected that a recently updated ENMC Consortium on "Protein surplus and other congenital myopathies" may procure important new information.
journal_name
Semin Pediatr Neuroljournal_title
Seminars in pediatric neurologyauthors
Goebel HH,Borchert Adoi
10.1053/spen.2002.33799keywords:
subject
Has Abstractpub_date
2002-06-01 00:00:00pages
160-70issue
2eissn
1071-9091issn
1558-0776pii
S1071-9091(02)80009-2journal_volume
9pub_type
杂志文章,评审abstract：:Herpes simplex virus type 2 (HSV-2) is known to cause acute retinal necrosis (ARN). The availability of HSV-2-specific polymerase chain reaction tests for diagnostic analysis has greatly increased our ability to discriminate ARN caused by HSV-2 from ARN caused by either herpes simplex virus type 1 or varicella zoster ...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2012.02.005
更新日期：2012-09-01 00:00:00
abstract：:Alpers disease is a mitochondrial depletion syndrome characterized by psychomotor retardation, intractable epilepsy, and liver failure. Polymerase gamma (POLG) gene mutations are a known cause of the disease. We describe a case in which a 14-month-old female presented with epilepsia partialis continua evolving into ge...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.spen.2010.02.012
更新日期：2010-03-01 00:00:00
abstract：:Significant advancements have been made in early intervention programs for children with Autism spectrum disorder (ASD). However, measuring treatment response for children with ASD is difficult due to the heterogeneity of changes in symptoms, which can be subtle, especially over a short period of time. Here we outline...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2020.100806
更新日期：2020-07-01 00:00:00
abstract：:Pediatric neurologists frequently encounter patients who present with significant musculoskeletal pain that cannot be attributed to a specific injury or illness, which can often be defined as pain amplification syndrome (PAS). PAS in children and adolescents is the result of a heightened pain sensitivity pathway, whic...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2016.10.006
更新日期：2016-08-01 00:00:00
abstract：:Biomarkers are central to the translational medicine strategic focus, though strict criteria need to be applied to their designation and utility. They are one of the most promising areas of medical research, but the "biomarker life-cycle" must be understood to avoid false-positive and false-negative results. Molecular...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2017.08.001
更新日期：2017-08-01 00:00:00
abstract：:Cytomegalovirus (CMV) is the most common congenital virus passed from mother to fetus in the United States, and the most common acquired cause of sensorineural hearing loss. Neuroimaging in patients with symptomatic congenital CMV demonstrates abnormalities frequently, but many providers are unaware of the extent of t...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.spen.2017.03.014
更新日期：2018-07-01 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
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2012.02.010
更新日期：2012-03-01 00:00:00
abstract：:Neonatal neurocritical care is an evolving subsubspecialty whose goal is to implement neuroprotective care strategies, continuous bedside monitoring of neurologic function, and therapies in order to reduce the risk of neurologic injury and improve long-term neurodevelopmental outcomes in neonates who require intensive...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.spen.2019.08.010
更新日期：2019-12-01 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
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2014.02.003
更新日期：2014-03-01 00:00:00
abstract：:The clinical presentation of patients with epileptic encephalopathies can be heterogenous. When attempting to classify a patient's epilepsy syndrome, challenges can arise due to the phenotypic overlap of various epilepsies as well as the different presentations of mutations within the same gene. Genetic testing can be...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.spen.2018.04.004
更新日期：2018-07-01 00:00:00
abstract：:Magnetic resonance imaging (MRI) has contributed dramatically to our understanding of the newborn with neurologic problems. Recently developed magnetic resonance techniques, such as fetal MRI and MR spectroscopy, offer additional insight into normal and pathologic processes affecting the fetal and neonatal CNS. This a...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1053/spen.2001.24838
更新日期：2001-06-01 00:00:00
abstract：:Pediatric brain tumors should be treated at multispecialty centers where the pediatric neurosurgeon constitutes a critical component to the team. Pediatric brain tumors are relatively rare, and diagnosis is often delayed because of the protean manifestations of these tumors clinically. The tumors can occur anywhere al...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/s1071-9091(97)80013-7
更新日期：1997-12-01 00:00:00
abstract：:Newborn screening has evolved from a single test for a single metabolite to a test that detects more than 90 metabolites on a single blood spot. In the past decade, the panel of newborn-screening disorders has rapidly expanded and will continue to grow as more is discovered about the human genome. It continues to be a...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2008.05.003
更新日期：2008-09-01 00:00:00
abstract：:Childhood stoke is increasingly recognized, but studies remain largely descriptive. Important differences from adult stroke include the following: (1) frequently delayed or missed diagnosis, (2) heterogenous and overlapping risk factors, and (3) developmental differences in the cerebrovascular, neurologic, and coagula...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1053/spen.2000.20074
更新日期：2000-12-01 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
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2015.05.005
更新日期：2015-09-01 00:00:00
abstract：:Global developmental delay (GDD) and intellectual disability (ID) occur in up to 3% of the general population and are even more commonly encountered in the setting of the pediatric neurology clinic. New advances in technology and in the understanding of genetic disorders have led to changes in the diagnostic approach ...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2012.09.004
更新日期：2012-12-01 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
pub_type： 杂志文章,评审
doi：10.1016/s1071-9091(96)80032-5
更新日期：1996-12-01 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
pub_type： 杂志文章,评审
doi：10.1016/s1071-9091(97)80029-0
更新日期：1997-06-01 00:00:00
abstract：:Childhood narcolepsy is frequently under-diagnosed. Hypersomnolence may not always be accompanied by cataplexy, sleep paralysis, or hypnagogic hallucinations in the early stages. Pathophysiologic considerations revolve around an altered central nervous system catecholamine-acetylcholine balance. Both idiopathic and sy...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/s1071-9091(96)80027-1
更新日期：1996-03-01 00:00:00
abstract：:This neuropathologic case study illustrates the discovery of metachronous hemorrhagic infarcts insinuating round mass-like lesions by magnetic resonance imaging in the setting of childhood primary angiitis of the central nervous system (cPACNS) raising diagnostic awareness of this unusual presentation in a clinical an...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.spen.2014.06.001
更新日期：2014-06-01 00:00:00
abstract：:Training in child neurology requires formal training in other aspects of pediatrics. This pediatrics training affords the ability to obtain a developmentally appropriate history and physical examination at all stages of childhood and adolescence and to provide anticipatory guidance to children and families of all deve...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.spen.2011.05.007
更新日期：2011-06-01 00:00:00
abstract：:It was not too long ago that being struck violently in the head or "getting your bell rung" was often brushed off as nothing to worry about. These days the pendulum has swung and there is growing appreciation that this mild traumatic brain injury (mTBI), often called concussion, must be taken seriously and is now on t...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.spen.2019.03.008
更新日期：2019-07-01 00:00:00
abstract：:A 13-year-old boy with Lennox-Gastaut syndrome characterized by absence, myoclonic, complex-partial, and secondarily generalized tonic-clonic seizures, presents with progressive obtundation and loss of motor and verbal skills over a 2-day period. Initial evaluation revealed therapeutic phenytoin serum concentrations. ...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章
doi：10.1016/s1071-9091(99)80004-7
更新日期：1999-09-01 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
pub_type： 杂志文章
doi：10.1016/j.spen.2017.03.006
更新日期：2018-07-01 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
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2016.01.001
更新日期：2016-02-01 00:00:00
abstract：:Ethical issues in the critical care unit frequently arise in children with neurological problems. These ethical issues frequently challenge our medical management of such cases and can be quite problematic. This article reviews key ethical issues that may arise including informed consent, futility, justice/rationing, ...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2004.03.012
更新日期：2004-06-01 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
pub_type： 杂志文章,评审
doi：10.1016/s1071-9091(05)80034-8
更新日期：1995-09-01 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
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2007.07.005
更新日期：2007-09-01 00:00:00
abstract：:Many genetic conditions can result in ataxia. Careful clinical, radiologic, and genetic evaluation permits the specific diagnosis of many of these conditions, which in turn facilitates medical care for the patient and genetic counseling for the patient and family. Predictive, prenatal, and carrier testing are possible...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/s1071-9091(03)00031-7
更新日期：2003-09-01 00:00:00
abstract：:The heterogeneous childhood limb-girdle muscular dystrophies have originally been defined as a group of autosomal recessive and dominant diseases with progressive weakness and wasting of shoulder and pelvic-girdle muscles. Over the last 12 years, the underlying genetic defects for many of the diseases have been identi...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2006.06.006
更新日期：2006-06-01 00:00:00
