Abstract:
:Mitochondrial medicine provides a metabolic perspective on the pathology of conditions linked with inadequate oxidative phosphorylation. Dysfunction in the mitochondrial machinery can result in improper energy production, leading to cellular injury or even apoptosis. Clinical presentations are often subtle, so clinicians must have a high index of suspicion to make early diagnoses. Symptoms could include muscle weakness and pain, seizures, loss of motor control, decreased visual and auditory functions, metabolic acidosis, acute developmental regression, and immune system dysfunction. The 2013 Neurobiology of Disease in Children Symposium, held in conjunction with the 42nd Annual Meeting of the Child Neurology Society, aimed to (1) describe accepted clinical phenotypes of mitochondrial disease produced from various mitochondrial mutations, (2) discuss contemporary understanding of molecular mechanisms that contribute to disease pathology, (3) highlight the systemic effects produced by dysfunction within the mitochondrial machinery, and (4) introduce current strategies that are being translated from bench to bedside as potential therapeutics.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
Thornton B,Cohen B,Copeland W,Maria BLdoi
10.1177/0883073814537379subject
Has Abstractpub_date
2014-09-01 00:00:00pages
1179-207issue
9eissn
0883-0738issn
1708-8283pii
0883073814537379journal_volume
29pub_type
abstract::Primary hypertension is associated with decreased performance on neurocognitive testing and a blunted cerebrovascular reactivity to hypercapnia. Parents of 14 children with hypertension and prehypertension completed the Behavior Rating Inventory of Executive Functions. Children underwent 24-hour ambulatory blood press...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073813494264
更新日期:2015-04-01 00:00:00
abstract::The sphenoid sinus is often referred to as the "neglected sinus." Isolated sphenoid sinusitis is a rare disease with potentially devastating complications. It occurs at an incidence of about 2.7% of all sinus infections. Although headache is the most common presenting symptom, there is no typical headache pattern. Thr...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380101601203
更新日期:2001-12-01 00:00:00
abstract::Diamond-Blackfan anemia is a congenital hypoproliferative anemia known to be associated with diverse physical anomalies affecting the thumb, craniofacial bones, urogenital system, and heart; prematurity; and fetal demise. We report the case of a 16-month-old boy with Diamond-Blackfan anemia noted to have decreased use...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738030180111301
更新日期:2003-11-01 00:00:00
abstract::To describe associated ocular, neurologic, and systemic findings in a population of children with optic nerve hypoplasia, a retrospective chart review of 100 patients with optic nerve hypoplasia for the presence of neurologic, radiologic, and endocrine abnormalities was performed. Neuroimaging and endocrine studies we...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738060210111701
更新日期:2006-11-01 00:00:00
abstract::In addition to the typical infantile spasm symptoms, several other symptoms, such as eye movements, have been reported to be associated with infantile spasms, although the relationship between the typical spasms and these other events is not fully understood. Here we present a case with West syndrome. We observed the ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073813489169
更新日期:2013-11-01 00:00:00
abstract:OBJECTIVES:The objectives were to investigate the relationship between ketogenic diet therapy and neutropenia in children with epilepsy. METHODS:A retrospective chart review of children who initiated ketogenic diet at the Hospital for Sick Children between January 1, 2000, and May 1, 2018 was performed. Factors associ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073820984067
更新日期:2021-01-04 00:00:00
abstract::There is increased necessity to focus research on school-aged athletes with sports-related concussion (SRC). This study assessed differences in symptom reporting and neurocognitive performance in youth athletes who sustained a sports-related concussion. A total of 1345 concussed and 3529 nonconcussed athletes (ages 8-...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073818766815
更新日期:2018-06-01 00:00:00
abstract::Cortical dysplasia is now recognized as one of the major etiologies causing intractable epilepsy in childhood. Dysplastic cortex displays cortical dyslamination, which is often associated with dysmorphic large neurons and less frequently with balloon cells. The dysmorphic large neurons are commonly located in the subc...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/08830738050200040601
更新日期:2005-04-01 00:00:00
abstract::Muscular dystrophies are composed of a variety of genetic muscle disorders linked to different chromosomes and loci and associated with different gene mutations that lead to progressive muscle atrophy and weakness. Fukuyama congenital muscular dystrophy is frequently associated with partial and generalized epilepsy an...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738060210021601
更新日期:2006-02-01 00:00:00
abstract::We report the clinical, electroencephalographic, neurophysiologic, and neuroimaging findings in eight children with infant-onset progressive myoclonus epilepsy, all of whom had muscle biopsies performed as as part of the diagnostic evaluation. Each child had myoclonic seizures, generalized tonic-clonic seizures, and n...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389100600207
更新日期:1991-04-01 00:00:00
abstract:BACKGROUND:Spinal muscular atrophy is an autosomal-recessive, progressive neuromuscular disease associated with extensive morbidity. Children with spinal muscular atrophy have potentially increased life spans due to improved nutrition, respiratory support, and novel pharmaceuticals. OBJECTIVES:To report on the quality...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073819900463
更新日期:2020-04-01 00:00:00
abstract::We analyzed, retrospectively, 92 patients with headache to determine the changes in the order of frequency of causes with the development of neuroimaging studies and its efficacy in the investigation of patients with headache. The type of headache was redefined according to the International Headache Society (IHS) dia...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389801300502
更新日期:1998-05-01 00:00:00
abstract::Epilepsy is a very uncommon first manifestation of a neuroblastoma. A 5-month-old healthy infant presented with acute onset seizures and developmental regression. Extensive investigation was remarkable for urinary vanillylmandelic acid and homovanillic acid peaks. Abdominopelvic magnetic resonance imaging (MRI) disclo...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073812461946
更新日期:2014-01-01 00:00:00
abstract::Myoclonus epilepsy with ragged red fibers (MERRF) is one of the major mitochondrial encephalomyopathies. Its main clinical features are myoclonus epilepsy, ataxia, and myopathy with ragged red fibers. Whereas there is a close correlation between MERRF syndrome and the A8344G mutation of mitochondrial DNA, the reverse ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738060210010901
更新日期:2006-01-01 00:00:00
abstract::Two children with neurofibromatosis and a chief complaint of severe, episodic, unilateral facial itching were found to have brainstem glioma. Initial computerized tomography of the brain was thought to be normal, but the brainstem tumor was subsequently demonstrated on magnetic resonance imaging. The paroxysmal facial...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307388800300308
更新日期:1988-07-01 00:00:00
abstract::At present, both migraine and tension-type headaches in children are believed to be chronic primary headaches. Meningeal signs in both cases are ignored or not examined, and the neurologic status is considered normal. This is the first study that focuses on meningeal signs in children with chronic headaches. The study...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738060210050601
更新日期:2006-05-01 00:00:00
abstract::This is the first study to evaluate the efficacy of riboflavin for migraine prophylaxis in children. This was a randomized, double-blind study of riboflavin (200 mg daily) versus placebo in 48 children. The primary efficacy measure was the number of patients achieving a 50% or greater reduction in the number of migrai...
journal_title:Journal of child neurology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1177/0883073808318053
更新日期:2008-11-01 00:00:00
abstract::Multiple sclerosis and acute disseminated encephalomyelitis are demyelinating disorders of the central nervous system that can present initially as an acute focal demyelinating syndrome. We report an 11-year-old girl who initially presented with intractable vomiting and hypertension and later developed a subacute onse...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389501000611
更新日期:1995-11-01 00:00:00
abstract::The potential benefits of functional magnetic resonance imaging (MRI) for the investigation of normal development have been limited by difficulties in its use with children. We describe the practical aspects, including failure rates, involved in conducting large-scale functional MRI studies with normal children. Two h...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738020170122201
更新日期:2002-12-01 00:00:00
abstract::Children and adolescents with the Diagnostic and Statistical Manual of Mental Disorders-IV (DSM-IV) diagnosis of attention-deficit hyperactivity disorder (ADHD) can have comorbid conditions such as conduct disorder, oppositional defiant disorder, and obsessive-compulsive disorder (comorbid type). The purpose of our st...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738040190020201
更新日期:2004-02-01 00:00:00
abstract::Meralgia paresthetica is a mononeuropathy affecting the lateral femoral cutaneous nerve that is extremely rare in children. Two adolescent females, aged 11 and 13 years, presented due to tingling and pain on the side of the thigh of 2 to 3 weeks duration. The general examination revealed mild obesity; the neurological...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073809336130
更新日期:2010-01-01 00:00:00
abstract::We evaluated the neuropsychological and neurologic outcome of 15 long-term survivors of posterior fossa tumors who were treated between 1970 and 1984 with cranial irradiation (n = 15) and surgery (n = 14). The interval between diagnosis and evaluation ranged from 4 to 20 years (median = 10 years). Earlier age at diagn...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389501000308
更新日期:1995-05-01 00:00:00
abstract::The aim of this work was to evaluate the cognitive, language, and motor development, after 18 months of life, of nonmicrocephalic children born to mothers with Zika virus infection during pregnancy. Participants were 37 children aged 18-29 months divided into 2 groups: 17 nonmicrocephalic children born to mothers who ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073819892128
更新日期:2020-03-01 00:00:00
abstract::In this study we investigated centrally mediated parasympathetic regulation of modulated cardiac vagal tone among children with severe cyanotic and pallid breath-holding spells by examining respiratory sinus arrhythmia. Respiratory sinus arrhythmia was evaluated in 41 children; 17 subjects with cyanotic breath-holding...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389801300905
更新日期:1998-09-01 00:00:00
abstract::We describe the brain magnetic resonance imaging (MRI) findings in eight neonates with tuberous sclerosis complex to further delineate the spectrum of characteristic findings in these patients. In addition to the previously described characteristic brain MRI findings in neonates, which included cortical tuber, transma...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738060210042301
更新日期:2006-04-01 00:00:00
abstract::The purpose of this study was to determine the locations and characterize the types of brain abnormalities noted on brain magnetic resonance imaging in patients with probable and definite neurofibromatosis type 1. Patients with definite neurofibromatosis type 1 (n = 17) were studied when clinically indicated, and pati...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389300800105
更新日期:1993-01-01 00:00:00
abstract::On April 19, 1995, Oklahoma City (and the United States) lost its innocence. Almost all Oklahomans can relate exactly what they were doing either at 9:02 AM that day or when they first learned of the bombing. Of course, the whole world watched the events unfold through around-the-clock television coverage. One of the ...
journal_title:Journal of child neurology
pub_type: 传,历史文章,杂志文章
doi:10.1177/088307389501000510
更新日期:1995-09-01 00:00:00
abstract::A 16-year-old galactosemic patient, homozygous for the 5.5-kb gene deletion, suffered severe neurologic regression following streptococcal infection. Since the gene deletion includes the promoter of interleukin-11a receptor involved in neuronal apoptosis, we questioned whether this patient had no interleukin-11a recep...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073814540520
更新日期:2015-06-01 00:00:00
abstract::Cerebral vasculitis and clinically important myocardial inflammation are rare in juvenile dermatomyositis. We report a previously healthy 6-year-old girl with dermatomyositis who died after a fulminating clinical deterioration. Postmortem examination of the heart revealed characteristic endothelial tubuloreticular agg...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389400900315
更新日期:1994-07-01 00:00:00
abstract::Brain tissue from three patients with a clinical diagnosis of Reye syndrome was compared with tissue from three control patients. All Reye syndrome patients demonstrated cytotoxic cerebral edema, with swelling of astrocyte foot processes, which was not seen in controls. Myelin sheath splitting was seen both in control...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389100600108
更新日期:1991-01-01 00:00:00