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 biomarkers will revolutionize the treatment of neurological diseases, but the rate of progress depends on a bold, visionary stance by neurologists, as well as scientists, biotech and pharmaceutical industries, funding agencies, and regulators. One important tool in studying cell-specific biomarkers is multiparameter flow cytometry. Cerebrospinal fluid immunophenotyping, or immune phenotypic subsets, captures the biology of intrathecal inflammatory processes, and has the potential to guide personalized immunotherapeutic selection and monitor treatment efficacy. Though data exist for some disorders, they are surprisingly lacking in many others, identifying a serious deficit to be overcome. Flow cytometric immunophenotyping provides a valuable, available, and feasible "window" into both adaptive and innate components of neuroinflammation that is currently underutilized.
journal_name
Semin Pediatr Neuroljournal_title
Seminars in pediatric neurologyauthors
Bielekova B,Pranzatelli MRdoi
10.1016/j.spen.2017.08.001subject
Has Abstractpub_date
2017-08-01 00:00:00pages
229-239issue
3eissn
1071-9091issn
1558-0776pii
S1071-9091(17)30091-8journal_volume
24pub_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::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::Scoliosis, common in preadolescent females is a finding which warrants investigation in any other age group or if the clinical or neuroimaging features are atypical even in the preadolescent female. The cause of scoliosis are numerous but include several important conditions some of which are treatable and some of whi...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章
doi:10.1016/s1071-9091(96)80011-8
更新日期:1996-09-01 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::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::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
pub_type: 杂志文章,评审
doi:10.1053/spen.2002.32502
更新日期:2002-12-01 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
pub_type: 杂志文章,评审
doi:10.1016/s1071-9091(98)80017-x
更新日期:1998-03-01 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
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2014.12.005
更新日期:2015-03-01 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::Numerous neurosurgical approaches are available for children presenting with hypothalamic hamartomas (HHs) associated with severe epilepsy. A concern regarding the impairment of short-term memory after resective surgery is promoting the exploration of less invasive alternatives like radiosurgery. Gamma knife radiosurg...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2007.03.005
更新日期:2007-06-01 00:00:00
abstract::A seven year-old male presented to his pediatrician with choreiform movements and a recent history of sore throat. He was diagnosed with Sydenham's chorea based on clinical criteria and laboratory evidence. Worsening symptoms prompted a magnetic resonance imaging (MRI) of the brain which demonstrated evidence of Moyam...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.spen.2010.01.004
更新日期:2010-03-01 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::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
pub_type: 杂志文章
doi:10.1053/pb.2000.6690
更新日期:2000-06-01 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
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2020.100833
更新日期:2020-10-01 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
pub_type: 杂志文章
doi:10.1016/j.spen.2012.03.006
更新日期:2012-06-01 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::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
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2009.03.004
更新日期:2009-03-01 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
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
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2010.06.012
更新日期:2010-09-01 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::The interaction between sleep and headache or migraine is powerful and an elevated comorbidity between these 2 disorders has been reported in either adults or children. This comobidity is linked to common neurophysiological and neuroanatomical substrates that are genetically based strongly. The first reports on this r...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2015.04.005
更新日期:2015-06-01 00:00:00
abstract::Migraine is a commonly occurring headache syndrome in children and adolescents. Half of all individuals destined to have migraine begin their attacks before age 20 years. It is characterized by paroxysmal headache, nausea, vomiting, and desire to sleep. On occasion, dramatic neurological symptoms and signs accompany t...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/s1071-9091(05)80023-3
更新日期:1995-06-01 00:00:00
abstract::Intracranial pressure (ICP) and skull volume are intricately related. Craniosynostosis alters skull volume, and the many forms of craniosynostosis complicate the relationship to ICP even further. Patients with single-suture synostosis are less likely to experience elevated ICP than patients in whom multiple sutures, c...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2004.11.001
更新日期:2004-12-01 00:00:00
abstract::The success of transition for children and youth with neurological disorders depends on leadership from the pediatric neurology team to encourage and support the patient's firm knowledge base of the medical condition, gradual acceptance of self-management skills and confident self-advocacy. While the foundations of ef...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2020.100852
更新日期:2020-12-01 00:00:00
abstract::The training of the child neurologist in the fundamentals of neurology is discussed. Although the fundamentals of neurology are clearly necessary for the practice of child neurology, the breadth of the background necessary for the practice of child neurology depend on the interest, enthusiasm, and goals of the residen...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.spen.2011.05.006
更新日期:2011-06-01 00:00:00
abstract::The paroxysmal dyskinesias (PxDs) are involuntary, intermittent movement disorders manifested by dystonia, chorea, athetosis, ballismus or any combination of these hyperkinetic disorders. Paroxysmal kinesigenic dyskinesia (PKD), one of the four main types of PxD, involves sudden attacks of dyskinesias induced by volun...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/s1071-9091(02)00012-8
更新日期:2003-03-01 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::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
pub_type: 杂志文章,评审
doi:10.1016/s1071-9091(03)00074-3
更新日期:2003-12-01 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
pub_type: 杂志文章,评审
doi:10.1016/s1071-9091(99)80047-3
更新日期:1999-03-01 00:00:00
abstract::Postural tachycardia syndrome is a chronic condition with frequent symptoms of orthostatic intolerance or sympathetic activation and excessive tachycardia while standing, without significant hypotension. Orthostatic symptoms include dizziness, lightheadedness, blurring of vision, near faints, weakness in legs, poor co...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2013.01.001
更新日期:2013-03-01 00:00:00