共查询到20条相似文献，搜索用时 31 毫秒
1.
Hui Zhang Wenfang Zhang Yuechun Li Jie Yan Jinfeng Zhang Baojun Wang 《Brain & development》2018,40(2):100-106
Purpose
The study aims to detect the polymorphisms in uridine diphosphate glucuronyl transferase (UGT) 2B712 and investigate the corresponding effects on the blood concentrations of valproic acid (VPA) and carbamazepine (CBZ).Methods
A chemiluminescence immunoassay analyzer was used to detect the plasma concentrations of VPA or CBZ in patients. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to analyze UGT2B712 gene polymorphisms.Results
A total of 117 patients were enrolled under the VPA group, out of which 84 patients were aged 6 years or older. Comparison of the blood concentrations of VPA showed significant differences among patients with the three standard genotypes (mutant, heterozygous, and wild-type) based on one-way ANOVA (F = 4.386, p = 0.016). In addition, comparison of the blood concentrations among the three genotypes in the CBZ group (78 patients) showed no significant differences based on analysis using ANOVA (F = 0.897, p = 0.412).Conclusion
The UGT2B712 gene polymorphisms significantly affect the standard blood concentrations of VPA, but not CBZ. 相似文献2.
Tetsushi Yamamoto Mariko Taniguchi-Ikeda Hiroyuki Awano Masaaki Matsumoto Tomoko Lee Risa Harada Takamitsu Imanishi Nobuhide Hayashi Yoshitada Sakai Ichiro Morioka Yasuhiro Takeshima Kazumoto Iijima Jun Saegusa Tatsushi Toda 《Brain & development》2017,39(10):861-868
Background
One of the main complications in patients with muscular dystrophies is cardiac dysfunction. The literature on cardiac involvement in patients with Fukuyama congenital muscular dystrophy (FCMD) is limited.Aim
To compare cardiac involvement between patients with FCMD and Duchenne muscular dystrophy (DMD).Methods
We compared cardiac involvement between 30 patients with FCMD and 181 patients with DMD using echocardiography and serum biomarkers. All patients were receiving regular checkups at Kobe University Hospital. We used single regression analysis to compare echocardiographic parameters, age, and serum biomarkers.Results
Almost all clinical and echocardiographic parameters were lower in patients with FCMD than DMD. The brain natriuretic peptide concentration in patients with FCMD showed no correlation with age or left ventricular ejection fraction (r = 0.231, p = 0.22 and r = 0.058, p = 0.76, respectively). A log-rank test revealed that the risk of left ventricular systolic dysfunction was lower in patients with FCMD than DMD (p = 0.046, hazard ratio = 0.348).Conclusion
The clinical progression of cardiac dysfunction is significantly milder in patients with FCMD than DMD, while skeletal muscle involvement is significantly worse in patients with FCMD. These data suggest that the pathophysiological findings of FCMD can be explained by less severe cardiac dysfunction in FCMD than DMD. 相似文献3.
Antoine Gueguen Claude Jardel Marc Polivka S. Veronica Tan Françoise Gray Catherine Vignal Anne Lombès Olivier Gout Hugh Bostock 《Clinical neurophysiology》2017,128(7):1258-1263
Objective
To explore potential spreading to peripheral nerves of the mitochondrial dysfunction in chronic progressive external ophthalmoplegia (CPEO) by assessing axonal excitability.Methods
CPEO patients (n = 13) with large size deletion of mitochondrial DNA and matching healthy controls (n = 22) were included in a case-control study. Muscle strength was quantified using MRC sum-score and used to define two groups of patients: CPEO-weak and CPEO-normal (normal strength). Nerve excitability properties of median motor axons were assessed with the TROND protocol and changes interpreted with the aid of a model.Results
Alterations of nerve excitability strongly correlated with scores of muscle strength. CPEO-weak displayed abnormal nerve excitability compared to CPEO-normal and healthy controls, with increased superexcitability and responses to hyperpolarizing current. Modeling indicated that the CPEO-weak recordings were best explained by an increase in the ‘Barrett-Barrett’ conductance across the myelin sheath.Conclusion
CPEO patients with skeletal weakness presented sub-clinical nerve excitability changes, which were not consistent with axonal membrane depolarization, but suggested Schwann cell involvement.Significance
This study provides new insights into the spreading of large size deletion of mitochondrial DNA to Schwann cells in CPEO patients. 相似文献4.
Satoshi Kidowaki Masafumi Morimoto Kei Yamada Koji Sakai Masashi Zuiki Hiroshi Maeda Satoshi Yamashita Takashi Morita Tatsuji Hasegawa Tomohiro Chiyonobu Sachiko Tokuda Hajime Hosoi 《Brain & development》2017,39(1):40-47
Purpose
We used diffusion tensor imaging (DTI) to evaluate longitudinal changes in fractional anisotropy (FA) of white matter tracts in preterm infants without abnormal magnetic resonance imaging (MRI) findings. Imaging was conducted at term equivalent age (TEA) and 1 year of corrected age. Furthermore, we assessed correlations between FA and neurodevelopmental outcomes at 3 years of corrected age to investigate brain prematurity of preterm infants without MRI abnormalities.Methods
Preterm infants underwent serial MRI at TEA and 1 year of corrected age. Of these, 13 infants entered a retrospective study, undergoing neurodevelopmental assessment at 3 years of corrected age. These infants were divided into two groups depending on gestational age (GA): <26 weeks and ?26 weeks. DTI-based tractography was performed to obtain the FA of the motor tract, sensory tract, superior cerebellar peduncle, middle cerebellar peduncle, and corpus callosum. FA was compared between two groups, and correlations between FA and neurodevelopmental outcomes were assessed.Results
FA of the splenium at TEA was significantly different between the two groups divided according to GA. However, this difference was no longer observed at 1 year of corrected age. There was no correlation between FA of the splenium at TEA and neurodevelopmental assessment scores at 3 years of corrected age.Conclusions
At TEA, FA of the splenium was lower in younger GA infants without MRI abnormalities, but this may not affect subsequent neurodevelopmental outcomes. 相似文献5.
Objective
Hashimoto encephalopathy is an autoimmune encephalopathy characterized by elevated antithyroid antibodies and a favorable response to corticosteroid. This study delineated the clinical characteristics of pediatric Hashimoto encephalopathy and the significance of low antithyroid antibody titers in diagnosis and treatment.Subjects and methods
Clinical manifestations, antibody titers, and treatment responses were retrospectively reviewed in six consecutive children diagnosed with Hashimoto encephalopathy between August 2008 and July 2016.Results
Age at diagnosis was 10–17 years. Presenting symptoms were seizures, altered consciousness, behavioral changes, psychosis, tremor, and dystonia. Thyroid function was normal in five patients, and one had hypothyroidism prior to the encephalopathy. Antithyroid antibody titer was increased at presentation in five patients and one week later in the other. Antibody levels were extremely varied (anti-thyroglobulin, 20.5–2318.0 U/ml; anti-thyroid peroxidase, 12.5–2231.0 U/ml; reference range, <60 U/ml) and <180 U/ml in two patients. Electroencephalogram was abnormal in five patients. Brain magnetic resonance imaging was unremarkable. Four patients responded to high-dose corticosteroid and one improved with additional intravenous immunoglobulin. The remaining patient did not respond to both treatments and normalized after plasmapheresis. Autoantibody titers decreased with treatment response in the acute stage. Two patients with low antibody titers showed similar clinical presentations and responses.Conclusions
The clinical presentations and treatment responses in Hashimoto encephalopathy were similar, irrespective of antithyroid antibody titer. Because the initial antithyroid antibody titers can be normal or mildly-elevated, follow-up testing of antithyroid antibodies is required in patients who are clinically suspect for Hashimoto encephalopathy. 相似文献6.
Yuichi Kodama Yasuhiro Okamoto Tomohiro Kubota Yoshifumi Hiroyama Hiroshi Fukami Kensuke Matsushita Yoshifumi Kawano 《Brain & development》2017,39(10):846-850
Background
Osteoporosis can lead to spontaneous fractures in adults with cerebral palsy (CP). Undercarboxylated osteocalcin (ucOC) is a useful marker for vitamin K insufficiency in osteoporosis. The primary objective of this study was to determine the effect of vitamin K2 on bone mineral density (BMD) in adults with CP and vitamin K insufficiency.Methods
Sixteen adults, median age of 56 years, with CP and osteoporosis in whom the serum ucOC concentration exceeded 4.5 ng/mL were included. All patients received 45 mg of vitamin K2 per day. BMD was measured and presented as a percentage of the young adult mean (%YAM). Serum levels of ucOC and BMD were measured at baseline and after 6 and 12 months.Results
Serum levels of ucOC decreased from 7.8 ng/mL (range, 4.9–32) at baseline to 3.9 ng/mL (range, 1.9–6.8) after 6 months (P = 0.001). BMD increased from 59%YAM (range, 45–67) at baseline to 68%YAM (range, 50–79) after 12 months (P = 0.003).Conclusions
Vitamin K2 had a positive effect on BMD in osteoporotic adults with CP and high serum concentrations of ucOC, and might be useful as a first line treatment for osteoporotic adults with CP and vitamin K insufficiency. 相似文献7.
Phedias Diamandis David Chitayat Ants Toi S. Blaser Patrick Shannon 《Brain & development》2017,39(1):23-39
Objective
To characterise the early tissue changes of post encephaloclastic polymicrogyria in the human fetus.Methods
We identified and reviewed the clinical histories and autopsy pathology of post ischemic fetal cerebral cortical injury at less than 30 weeks gestational age (GA). The histology of local cortical abnormalities was examined with neuronal, glial, microglial and vascular immunohistochemical markers.Results
We identified eight cases ranging from 18 to 29 weeks GA: 5 cases show full thickness cortical infarcts and 3 show periSylvian post-ischemic necrosis of the cerebral cortex. The maximal age is less than 10 weeks after injury. There are abnormalities in gross fissuration as early as one month after injury. Disruption of the pia limitans was associated with a microglial and glial response and full thickness cortical injury. Macrophages were often seen accumulating deep to abnormal cortex. Hyperplasia of the subpial granular cell layer was universal in perilesional cortex. Cajal Retzius neuron hyperplasia, aggregation, and both superficial and deep displacement were noted. Where there was loss and dispersal of early cortical pyramidal neurons there was usually no pseudolaminar necrosis. Radial glia by 18 weeks GA showed altered growth patterns and lateral branching. Altered migration of primitive elements was often prominent. Particularly prior to 20 weeks GA subadjacent subplate neurons showed striking hypertrophy.Conclusions
The array of histological changes encompasses all tissue elements of the affected brains, early in the evolution polymicrogyria. Although subpial alterations were ubiquitous, not all changes are referable to alterations in the pia limitans. The role of the necroinflammatory response in the genesis of abnormal cytoarchitecture deserves further study. 相似文献8.
Keisuke Wakusawa Chieko Nara Yuki Kubota Yayoi Tomizawa Yasuyuki Taki Yuko Sassa Satoru Kobayashi Sato Suzuki-Muromoto Mieko Hirose Hiroyuki Yokoyama Takahiro Nara Shigeo Kure Norio Mori Noriyoshi Takei Ryuta Kawashima 《Brain & development》2018,40(1):16-25
Objective
Several studies have suggested that objective deficits in the processing of abstract information in conjunction with an enhanced ability to process concrete information is a definitive characteristic of autism spectrum disorder (ASD). However, this cognitive imbalance is not necessarily clear in high-functioning autistic individuals who do not display absolute differences relative to typically developing (TD) populations. Thus, the purpose of this study was to identify this cognitive tendency in high-functioning autistic individuals using intra-individual cognitive comparisons.Methods
The reaction times (RTs) of TD children, children with ASD, and children with attention deficit hyperactivity disorder (AD/HD) (n = 17 in each group, mean age = 11.9 years, age range = 9.8–15.8 years) were compared using the Which/How-to-Apply Tools (W/HAT) test, which consists of tasks requiring the adaptive use of novel tools and familiar tools in atypical and typical situations. Differences in RTs between the atypical and typical trials ([A–T]) were used to assess intra-individual cognitive imbalances.Results
As predicted, the [A–T] scores of the ASD group were significantly higher than those of the TD group even though the RTs in the atypical and typical trials did not differ. Additionally, the [A–T] values were significantly higher in the ASD group than in the AD/HD group, which indicates that the cognitive imbalance was specific to ASD individuals. No significant interaction was detected between the trial and subject group.Conclusions
The findings of this study demonstrate that a cognitive imbalance in ASD individuals may enhance the current understanding of the pathophysiology of this disorder, which is found in a range of individuals, including those with obvious cortical dysfunction to those with only intra-individual imbalances. 相似文献9.
Eva Bültmann Loukia M. Spineli Hans Hartmann Heinrich Lanfermann 《Brain & development》2018,40(2):85-93
Objective
To examine age-related changes in T2 relaxation times during infancy and childhood in order to assess T2 values obtained from routine MRI as a biomarker.Methods
From our pool of clinical pediatric MRI examinations at 3 T all patients with normal conventional MRI scans were retrospectively selected. Depending on their clinical findings the identified 99 patients (0–199 months) were divided into 43 healthy controls and 56 diseased children with various clinical abnormalities (developmental delay, epilepsy, prematurity, and deafness). T2 maps based on routinely performed triple echo turbo spin echo sequences were created. T2 values were measured in 22 brain regions to determine age-related changes. We also investigated whether such changes differ between healthy and diseased children.Results
Age significantly reduced T2 relaxation times across all regions (p < 0.05), but health status had no impact. With increasing age, T2 values decreased continuously, with declines faster over the first 10 months and slower thereafter. Early rapid and later slow decline was similar in healthy and diseased groups.Conclusions
Using T2 maps based on clinical MRI data we could determine age-related T2 relaxation times in 22 brain regions during infancy and childhood. Our data have relevance for future investigator independent T2 relaxation time measurements in determining whether T2 values are within the normal range or should be considered as potentially pathologic. 相似文献10.
Melanie K. Fleming John C. Rothwell Laszlo Sztriha James T. Teo Di J. Newham 《Clinical neurophysiology》2017,128(7):1389-1398
Objective
To assess the impact of electrode arrangement on the efficacy of tDCS in stroke survivors and determine whether changes in transcallosal inhibition (TCI) underlie improvements.Methods
24 stroke survivors (3–124 months post-stroke) with upper limb impairment participated. They received blinded tDCS during a motor sequence learning task, requiring the paretic arm to direct a cursor to illuminating targets on a monitor. Four tDCS conditions were studied (crossover); anodal to ipsilesional M1, cathodal to contralesional M1, bihemispheric, sham. The Jebsen Taylor hand function test (JTT) was assessed pre- and post-stimulation and TCI assessed as the ipsilateral silent period (iSP) duration using transcranial magnetic stimulation.Results
The time to react to target illumination reduced with learning of the movement sequence, irrespective of tDCS condition (p > 0.1). JTT performance improved after unilateral tDCS (anodal or cathodal) compared with sham (p < 0.05), but not after bihemispheric (p > 0.1). There was no effect of tDCS on change in iSP duration (p > 0.1).Conclusions
Unilateral tDCS is effective for improving JTT performance, but not motor sequence learning.Significance
This has implications for the design of future clinical trials. 相似文献11.
Objective
Phase synchronization is suggested to be among the mechanisms that can explain the effects of transcranial alternating current stimulation (tACS). However, little is known about the effects of tACS on event-related oscillatory activity. Therefore the objective was to investigate frequency-related effects of frontal tACS on event-related oscillatory power.Methods
In a double blind randomized controlled cross-over design, twenty-four participants received 12 min of delta (2.5 Hz), theta tACS (5 Hz) and sham tACS at an intensity of 1 mA peak-to-peak. Event-related delta- and theta-related oscillatory activity was recorded to reward- and punishment-related feedback signals.Results
Delta tACS decreased feedback-related oscillatory power in the 1.5 and 3.5 Hz frequency range. This effect was driven by power changes below the tACS frequency stimulation.Conclusion
Exogenous field potentials can attenuate event-related oscillatory activity in a rhythm slightly below the stimulation frequency. Our findings suggest an interaction between tACS and event-related rhythmic activity that extends beyond phase synchronization.Significance
These findings add novel insights into the mechanisms of tACS after-effects. 相似文献12.
Objectives
Voluntary movements post-stroke are affected by abnormal muscle activation due to exaggerated stretch reflexes (SRs). We examined the ability of post-stroke subjects to regulate SRs in spastic muscles.Methods
Elbow flexor and extensor EMGs and joint angle were recorded in 13 subjects with chronic post-stroke spasticity. Muscles were either stretched passively (relaxed arm) or actively (antagonist contraction) at different velocities. Velocity-dependent SR thresholds were defined as angles where stretched muscle EMG exceeded 3SDs of baseline. Sensitivity of SRs to stretch velocity was defined as µ. The regression through thresholds was interpolated to zero velocity to obtain the tonic SR threshold (TSRT) angle.Results
Compared to passive stretches, TSRTs during active motion occurred at longer muscle lengths (i.e., increased in flexors and decreased in extensors by 10–40°). Values of μ increased by 1.5–4.0. Changes in flexor TSRTs during active compared to passive stretches were correlated with clinical spasticity (r = ?0.68) and arm motor impairment (r = 0.81).Conclusions
Spasticity thresholds measured at rest were modulated during active movement. Arm motor impairments were related to the ability to modulate SR thresholds between the two states rather than to passive-state values.Significance
Relationship between spasticity and movement disorders may be explained by deficits in SR threshold range of regulation and modifiability, representing a measure of stroke-related sensorimotor deficits. 相似文献13.
Objective
We aimed to elucidate whether 40 Hz auditory steady-state response (ASSR) could be sensitive to the state of patients with disorders of consciousness (DOC) as estimated with Coma Recovery Scale-Revised (CRS-R) diagnostic tool.Methods
Fifteen DOC patients and 24 healthy controls took part in the study. The 40 Hz click trains were used to evoke ASSRs. Mean evoked amplitude (EA) and phase-locking index (PLI) within 38–42 Hz window were calculated for 100 ms bins, starting from ?200 to 700 ms relative to stimulus onset.Results
The PLI values from the patient group in the period of 200–500 ms after the stimulus onset positively correlated with the CRS-R total score and with the scores of the Auditory and Visual subscales.Conclusions
The phase-locking index of 40 Hz auditory steady-state responses can be an indicator of the level of dysfunction of the central nervous system in DOC.Significance
Our results emphasize the role of central auditory system integrity in determining the level of functioning of DOC patients and suggest the possibility to use the ASSR protocol as an objective diagnostic method in DOC patients. 相似文献14.
Objective
This study aimed to compare the attention profiles of subjects with childhood absence epilepsy (CAE) to those of children with attention-deficit/hyperactivity disorder (ADHD) and controls.Method
We retrospectively reviewed the medical records of 20 children (age 7.2?±?1.6?years, 5 boys) in whom CAE was diagnosed at the Department of Pediatric Neurology of Asan Medical Center, Seoul, Korea. ADHD and control subjects were selected from children who visited the Department of Pediatric Psychiatry and were confirmed as having or not having ADHD based on Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) and the Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime version (K-SADS-PL). The 20 children with CAE, 20 with ADHD and 20 controls completed the Advanced Test of Attention (ATA), which is a computerized continuous performance task.Results
The CAE subjects without ADHD showed increased Omission errors (p = .013) on the visual ATA and Response time (p = 0.044) on the auditory ATA than the controls, although these differences did not remain significant after multiple comparison correction. The CAE subjects without ADHD had significantly decreased Response time variability on the visual ATA than the ADHD group (p < 0.001). The CAE subjects with comorbid ADHD showed increased Commission errors (p = 0.020) and Response time variability (p = 0.016) on the visual ATA and increased Commission errors (p = 0.022) on the auditory ATA than the CAE subjects without ADHD, although statistical significance disappeared after multiple comparison adjustments.Conclusion
These findings suggest that selective attention is impaired in children with CAE and comorbid ADHD contributes to further impairment of sustained attention and response inhibition. 相似文献15.
Robert Clinton Stowe Peter Kan Day Burruss Breen Sonika Agarwal 《Brain & development》2018,40(1):81-84
Background
Certain pediatric populations have increased risk of ischemic strokes, including those with cardiac disease and those dependent on mechanical circulatory devices such as ventricular assist devices. Due to their need for chronic anticoagulation, patients with mechanical circulatory devices are not candidates for systemic thrombolysis and thus treatment of acute ischemic stroke is limited.Case
A 9-year-old boy with a ventricular assist device presented with acute onset of dense right hemiparesis, global aphasia, and a pediatric NIHSS score of 23. Vessel imaging showed an occlusive proximal left middle cerebral artery thrombus successfully removed via mechanical thrombectomy within 4.5 h of symptom onset. His pediatric NIHSS 72 h after presentation was 3.Conclusions
This case represents only the third report of successful mechanical thrombectomy for acute ischemic stroke in a pediatric patient with a ventricular assist device and the first using the Trevo stent retriever system. Our patient’s excellent outcome highlights mechanical thrombectomy as a potential therapeutic option for children with ventricular assist devices experiencing acute neurological changes and radiologic evidence of proximal vessel occlusion. 相似文献16.
Objective
Pharmaceutical intervention targets arm flexor spasticity with an often-unsuccessful goal of improving function. Flexion synergy is a related motor impairment that may be inadvertently neglected. Here, flexor spasticity and flexion synergy are disentangled to determine their contributions to reaching dysfunction.Methods
Twenty-six individuals participated. A robotic device systematically modulated shoulder abduction loading during ballistic reaching. Elbow muscle electromyography data were partitioned into windows delineated by elbow joint velocity allowing for the separation of synergy- and spasticity-related activation.Results
Reaching velocity decreased with abduction loading (p < 0.001) such that velocity was 30% slower when lifting the arm at 50% of abduction strength compared to when arm weight was supported. Abnormal flexion synergy increased with abduction loading (p < 0.001) such that normalized activation ranged from a median (interquartile range) of 0.07 (0.03–0.12) when arm weight was supported to 0.19 (0.12–0.40) when actively lifting (large effect size, d = 0.59). Flexor spasticity was detected during reaching (p = 0.016) but only when arm weight was supported (intermediate effect size, d = 0.33).Conclusion
Flexion synergy is the predominant contributor to reaching dysfunction while flexor spasticity appears only relevant during unnaturally occurring passively supported movement.Significance
Interventions targeting flexion synergy should be leveraged in future stroke recovery trials. 相似文献17.
Objective
Pre-movement processes were investigated in people with Congenital mirror movement (CMM), a rare disorder in which bilateral movement (mirroring) occurs in the upper distal extremities (primarily the hands and fingers) during intended unilateral movements. Abnormal density of ipsilateral corticospinal projections is an established hallmark of CMM. This study tested whether the Lateralised Readiness Potential (LRP), which reflects movement planning and readiness, is also abnormal in people with CMM.Methods
Twenty-eight neurologically-normal controls and 8 people with CMM were tested on a unimanual Go/No-go task while electroencephalography (EEG) was recorded to assess the LRP.Results
No significant group differences were found in reaction time (RT). However, significantly smaller LRP amplitudes were found, on average, in the CMM group compared to Controls at central-motor (C3, C4) sites in stimulus-locked and response-locked epochs; similar group differences were also found at further frontal sites (F3, F4) during response-locked epochs.Conclusions
Abnormal brain activity in pre-movement processes associated with response planning and preparation is present in people with CMM.Significance
Aberrant bilateral activity during pre-movement processes is clearly implicated; whether part of the etiology of CMM, or as a mechanism of neuro-compensation, is not yet known. 相似文献18.
Introduction
Fukuyama congenital muscular dystrophy (FCMD), caused by fukutin mutations, is the most common form of Japanese CMD. We followed a Japanese CMD sibship without fukutin mutation, and herein identified new FKRP mutations causing MDC1C rarely reported in Oriental countries.Patients
Two affected siblings, individuals 1 (I-1, male) and 2 (I-2, female), were born uneventfully to unaffected, non-consanguineous parents. Severe hypotonia was soon apparent and serum CK levels were elevated: I-1: 1025 IU/L (normal range <130 IU/L) and I-2: 5350 IU/L. I-1 had neither shown head control, nor said any words until he died of pneumonia at the age of 23 months. I-2 learned to sit at 4 years and 10 months and spoke sentences at 6 years and 5 months. She had received respiratory support since 9 years of age and died at 22 years. Both showed a low-density area in the cerebral white matter on CT. MRI of I-2 revealed diffuse hyperintensity in the cerebral white matter on T2-WI, polymicrogyria over the frontal and parietal lobes, and disorganized folia and cysts in the cerebellum.Methods and results
Next generation and Sanger sequencing were performed for I-2. Heterozygous FKRP mutations were identified in exon 4: c.1167_1168delGC, p.Gly391Leufs172 and c.501_502GT>CC, p.Arg167Ser, p.Cys168Arg.Discussion
Recently, fukutin and FKRP were identified as sequentially acting ribitol 5-phosphate transferases involved in the post-translational modification of α-dystroglycan. This may explain the clinical similarities between the two disorders. 相似文献19.
Milica G. Kramberger Katarina Giske Lena Cavallin Ingemar Kåreholt Thomas Andersson Bengt Winblad Vesna Jelic 《Clinical neurophysiology》2017,128(9):1575-1582
Objective
The aim of the study was to describe the relationship between electroencephalographic (EEG) findings obtained by standardized visual analysis, subclinical white matter lesions (WML) and brain atrophy in a large memory clinic population.Methods
Patients with Alzheimer’s disease (AD, n = 58), mild cognitive impairment (MCI, n = 141), subjective cognitive impairment (SCI, n = 194) had clinical, MRI based WML severity and regional atrophy assessments, and routine resting EEG recording. Background activity (BA) and episodic and continuous abnormalities were assessed visually in EEG.Results
WML (p = 0.006) and atrophy in medial temporal regions (MTA) (p = <0.001) were associated with slower BA in all diagnoses. WML were associated in SCI with total episodic EEG abnormalities (p = 0.03).Conclusions
EEG is associated with subclinical WML burden and cortical brain atrophy in a memory clinic population.Significance
Even the standard visually assessed EEG can complement a memory clinic diagnostic workup. 相似文献20.
Kenji Yamada Hironori Kobayashi Ryosuke Bo Jamiyan Purevsuren Yuichi Mushimoto Tomoo Takahashi Yuki Hasegawa Takeshi Taketani Seiji Fukuda Seiji Yamaguchi 《Brain & development》2017,39(1):48-57