Abstract:
:Introduction: Mitochondrial myopathy in children has notable clinical and genetic heterogeneity, but detailed data is lacking. Patients and Methods: In this study, we retrospectively reviewed the clinical presentation, laboratory investigation, genetic and histopathological characteristics, and follow-ups of 21 pediatric mitochondrial myopathy cases from China. Results: Twenty-four patients suspected with mitochondrial myopathy were enrolled initially and 21 were genetically identified. Fourteen patients were found to harbor mitochondrial DNA point mutations (14/21, 66.7%), including m.3243A>G (9/15, 60%), m.3303C>T (2/15, 13.3%), m.3302A>G (1/15, 6.7%), m.3250T>C (1/15, 6.7%), m.3251A>G (1/15, 6.7%), of whom 12 patients presented with progressive proximal mitochondrial myopathy (12/14, 85.7%). Three patients revealed large-scale deletion in blood or muscle tissue (3/21, 14.3%), presenting with Kearns-Sayer syndrome (1/3, 33.3%) or chronic progressive external ophthalmoplegia (2/3, 66.7%). Four patients were found to harbor pathogenic nuclear gene variants (4/21, 19.0%), including five variants in TK2 gene and two variants in SURF1 gene. During the follow-ups up to 7 years, 10 patients developed cardiomyopathy (10/21, 47.6%), 13 patients occurred at least once hypercapnic respiratory failure (13/21, 61.9%), six experienced recurrent respiratory failure and intubation (6/21, 28.6%), eight patients failed to survive (8/21, 38.1%). With nocturnal non-invasive ventilation of BiPAP, three patients recovered from respiratory failure, and led a relative stable and functional life (3/21, 14.3%). Conclusion: Mitochondrial myopathy in children has great clinical, pathological, and genetical heterogeneity. Progressive proximal myopathy is most prevalent. Mitochondrial DNA point mutations are most common. And respiratory failure is a critical risk factor of poor prognosis.
journal_name
Front Neuroljournal_title
Frontiers in neurologyauthors
Hu C,Li X,Zhao L,Shi Y,Zhou S,Wang Ydoi
10.3389/fneur.2020.01000subject
Has Abstractpub_date
2020-09-08 00:00:00pages
1000issn
1664-2295journal_volume
11pub_type
杂志文章abstract::Traumatic brain injury (TBI) can cause seizures and the development of epilepsy. The incidence of seizures varies from 21% in patients with severe brain injuries to 50% in patients with war-related penetrating TBI. In the acute and sub-acute periods following injury, seizures can lead to increased intracranial pressur...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2013.00170
更新日期:2013-11-01 00:00:00
abstract::Autoimmune encephalitis often causes acute psychiatric symptoms and epileptic seizures. However, it is becoming increasingly clear that depending on the target antigen both symptoms and disease severity may vary. Furthermore, the identification and characterization of antibody subtypes are highly relevant for personal...
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doi:10.3389/fneur.2019.00175
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journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2018.00295
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abstract::Resting-state imaging designs are powerful in modeling functional networks in movement disorders because they eliminate task performance related confounds. However, the most common metric for quantifying functional connectivity, i.e., bivariate magnitude coherence (Coh), can sometimes be contaminated by spurious corre...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2013.00149
更新日期:2013-10-10 00:00:00
abstract::Background: Early imaging-based treatment response assessment of brain metastases following stereotactic radiosurgery (SRS) remains challenging. The aim of this study is to determine whether early (within 12 weeks) intratumoral changes in interstitial fluid pressure (IFP) and velocity (IFV) estimated from computationa...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00402
更新日期:2020-05-28 00:00:00
abstract::Background: Electrical Status Epilepticus in Sleep (ESES) is an epileptic encephalopathy syndrome characterized by infrequent clinical seizures and prominent interictal burden during slow wave sleep associated with cognitive deficits and behavioral dysfunction. Medical treatment with anti-epileptic drugs is often unsu...
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pub_type: 杂志文章
doi:10.3389/fneur.2019.01397
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abstract::Melodic intonation therapy (MIT) is a treatment program for the rehabilitation of aphasic patients with speech production disorders. We report a case of severe chronic non-fluent aphasia unresponsive to several years of conventional therapy that showed a marked improvement following intensive 9-day training on the Jap...
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pub_type:
doi:10.3389/fneur.2016.00148
更新日期:2016-09-19 00:00:00
abstract::Ankylosing spondylitis (AS) mainly affects the axial skeleton and is an important factor leading to chronic lower back pain in young individuals. However, few studies have explored alterations of brain gray matter volume in AS patients. The purpose of the present study was to describe brain gray matter abnormalities a...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.607646
更新日期:2020-11-30 00:00:00
abstract:OBJECTIVE:(1) To determine the brain connectivity pattern associated with clinical rigidity scores in Parkinson's disease (PD) and (2) to determine the relation between clinically assessed rigidity and quantitative metrics of motor performance. BACKGROUND:Rigidity, the resistance to passive movement, is exacerbated in...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2013.00067
更新日期:2013-06-05 00:00:00
abstract:Background:Wernicke's encephalopathy (WE), a metabolic disorder due to thiamine deficiency, manifests with various neurological symptoms and signs. It has been known as a cause of vestibular dysfunction. Preliminary reports have proposed predominant involvement of the horizontal semicircular canals (HSCs). Objective:T...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00141
更新日期:2018-03-12 00:00:00
abstract::Background: Cognitive impairments in temporal lobe epilepsy (TLE) patients has been described as a chronically progressive feature of the disease. However, how severe recurrent seizures modify neuronal circuits in the human brain and subsequently degrade cognitive function, remains largely unknown. Here, we aimed to i...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00625
更新日期:2020-07-21 00:00:00
abstract::[This corrects the article DOI: 10.3389/fneur.2020.00696.]. ...
journal_title:Frontiers in neurology
pub_type: 已发布勘误
doi:10.3389/fneur.2020.607331
更新日期:2020-10-30 00:00:00
abstract:BACKGROUND:Before implementation in clinical practice, biomarker assays need to be thoroughly analytically validated. There is currently a strong interest in implementation of the ratio of amyloid-β peptide 1-42 and 1-40 (Aβ42/Aβ40) in clinical routine. Therefore, in this study, we compared the analytical performance o...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00310
更新日期:2017-07-03 00:00:00
abstract::Hemorrhagic cerebrovascular disease in the pediatric population can have devastating and long-term effects. Progress in the fields of genetics, neuroimaging, pharmacology, and surgical techniques has led to improved diagnosis and management of pediatric cerebrovascular diseases. In this review we discuss the current e...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2020.01055
更新日期:2020-09-17 00:00:00
abstract::Background and Purpose: Stroke-related functional risk scores are used to predict patients' functional outcomes following a stroke event. We evaluate the predictive accuracy of machine-learning algorithms for predicting functional outcomes in acute ischemic stroke patients after endovascular treatment. Methods: Data w...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00889
更新日期:2020-08-25 00:00:00
abstract::Epilepsy is associated with abnormal spatiotemporal changes in resting-state brain connectivity, but how these changes are characterized in interhemispheric coupling remains unclear. This study aimed to characterize frequency-dependent alterations in voxel-wise mirrored homotopic connectivity (VMHC) measured by restin...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00645
更新日期:2020-07-29 00:00:00
abstract::Background: Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is one of the nine polyglutamine (polyQ) diseases and is caused by a CAG repeat expansion within the coding sequence of the ATXN3 gene. Few multimodal imaging analyses of the macro- and micro-structural changes have been performed. Methods: In...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.01025
更新日期:2019-09-24 00:00:00
abstract::It is known that patients with severe motor and intellectual disabilities (SMID) showed sudden unexplained death (SUD), in which autopsy failed to identify causes of death. Although the involvement of brainstem dysfunction is speculated, the detailed neuropathological analysis still remains to be performed. In order t...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2016.00093
更新日期:2016-06-27 00:00:00
abstract::Objective: To assess the relation between a sum score of imaging markers indicative of cerebral amyloid angiopathy (CAA) and cognitive impairment, stroke, dementia, and mortality in a general population. Methods: One thousand six hundred twenty-two stroke-free and dementia-free participants of the population-based Rot...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.01276
更新日期:2019-12-06 00:00:00
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journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.01037
更新日期:2018-12-14 00:00:00
abstract::Objectives: This study aimed to assess the efficacy of minocycline for the treatment of acute ischemic stroke. Background: While there have been meta-analysis that surveyed the efficacy of minocycline in the treatment of acute stroke, they have some methodological limitations. We performed a new systematic review whic...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.01103
更新日期:2018-12-20 00:00:00
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journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.618419
更新日期:2021-01-15 00:00:00
abstract::It is well-recognized that the gut microbiota (GM) is crucial for gut function, metabolism, and energy cycles. The GM also has effects on neurological outcomes via many mechanisms, such as metabolite production and the gut-brain axis. Emerging evidence has gradually indicated that GM dysbiosis plays a role in several ...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2019.01155
更新日期:2019-11-06 00:00:00
abstract::Background: Subthalamic nucleus deep brain stimulation (STN-DBS) has been an established method in improvement of motor disabilities in Parkinson's disease (PD) patients. It has been also claimed to have an impact on balance and gait disorders in PD patients, but the previous results are conflicting. Objective: The ai...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00906
更新日期:2018-10-31 00:00:00
abstract::There is increasing evidence for hippocampal involvement in Amyotrophic Lateral Sclerosis (ALS). Recent neuroimaging studies have been focused on disease-related hippocampal volume alterations while changes in hippocampal shape have been investigated less frequently. Here, we aimed to characterize the patterns of hipp...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00565
更新日期:2018-07-20 00:00:00
abstract::Recurrent stroke is becoming an increasingly important public health issue owing to the increased risk of disability and death. However, population-based studies investigating the rate of recurrent stroke in China are rare. We explored the rate and determinants of recurrent stroke within 1 and 5 years after the initia...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00002
更新日期:2020-01-23 00:00:00
abstract::Despite extensive research, the functions of the basal ganglia (BG) in movement control have not been fully understood. Eye movements, particularly saccades, are convenient indicators of BG function. Here, we review the main oculomotor findings reported in Parkinson's disease (PD) and genetic parkinsonian syndromes. P...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2017.00592
更新日期:2017-11-09 00:00:00
abstract::Performance of models highly depend not only on the used algorithm but also the data set it was applied to. This makes the comparison of newly developed tools to previously published approaches difficult. Either researchers need to implement others' algorithms first, to establish an adequate benchmark on their data, o...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00679
更新日期:2018-09-13 00:00:00
abstract::Background: External ventricular drain (EVD) has a major role in the management and monitoring of intracranial pressure (ICP) and its major complication is EVD infection. The risk factors for EVD infection are still a major topic of controversy, hence the need for further research. Objective: The objective of this rev...
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pub_type: 杂志文章,评审
doi:10.3389/fneur.2019.00226
更新日期:2019-03-15 00:00:00
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journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00378
更新日期:2018-05-24 00:00:00