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1.
Muscle Nerve ; 69(2): 199-205, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38124677

RESUMO

INTRODUCTION/AIMS: Easy fatigability, the clinical hallmark of generalized myasthenia gravis (GMG), cannot be detected in a dynamic way. The aim of this study was to assess respiratory function dynamically through diaphragmatic ultrasonography (DUS) in GMG patients. METHODS: GMG patients and controls were recruited in a 1:1 ratio. DUS was performed during one quiet breath and 15 consecutive deep breaths. The diaphragm thicknesses were measured at different positions. Diaphragm thickening fraction (TFdi) and the maximal change in diaphragm thickness (Tmax) during 15 consecutive deep breaths were calculated and transformed to normality, named N-TFdi and N-Tmax, respectively. The percentages of changes in TFdi and Tmax compared with baseline were named ΔTFdi and ΔTmax, respectively. The diagnostic parameter for respiratory muscle fatigue was chosen from ΔTFdi and ΔTmax at different deep breath times according to their ability to distinguish GMG patients from controls and the interrater reliability of TFdi and Tmax. RESULTS: Thirty-four GMG patients and 30 healthy controls were enrolled. N-TFdi and N-Tmax significantly changed as the number of deep breaths increased (p < .001) in GMG patients, but not in controls. ΔTmax of the 15th deep breath (ΔTmax15) was selected as the diagnostic parameter for respiratory muscle fatigue. There were no significant differences in percentage of predicted values of forced vital capacity and arterial partial pressure of carbon dioxide between patients with normal and abnormal ΔTmax15. DISCUSSION: DUS could identify diaphragm fatiguability in GMG patients, which may be more reliable and sensitive in assessment of diaphragm fatigue than conventional methods.


Assuntos
Diafragma , Miastenia Gravis , Humanos , Reprodutibilidade dos Testes , Miastenia Gravis/complicações , Miastenia Gravis/diagnóstico por imagem , Capacidade Vital , Ultrassonografia/métodos
2.
BMC Infect Dis ; 24(1): 541, 2024 May 30.
Artigo em Inglês | MEDLINE | ID: mdl-38816802

RESUMO

OBJECTIVE: Most studies investigated the relationship between COVID-19 and Guillain-Barré syndrome (GBS) by comparing the incidence of GBS before and during the pandemic of COVID-19. However, the findings were inconsistent, probably owing to varying degrees of the lockdown policy. The quarantine requirements and travel restrictions in China were lifted around December 7, 2022. This study aimed to explore whether the relative frequency of GBS increased during the major outbreak in the absence of COVID-19-mandated social restrictions in China. METHODS: GBS patients admitted to the First Hospital, Shanxi Medical University, from December 7, 2022 to February 20, 2023, and from June, 2017 to August, 2019 were included. The relative frequencies of GBS in hospitalized patients during different periods were compared. The patients with and without SARS-CoV-2 infection within six weeks prior to GBS onset formed the COVID-GBS group and non-COVID-GBS group, respectively. RESULTS: The relative frequency of GBS among hospitalized patients during the major outbreak of COVID-19 (13/14,408) was significantly higher than that before the COVID-19 epidemic (29/160,669, P < 0.001). More COVID-GBS patients (11/13) presented AIDP subtype than non-COVID-GBS cases (10/27, P = 0.003). The mean interval between onset of infective symptoms and GBS was longer in COVID-GBS (21.54 ± 11.56 days) than in non-COVID-GBS (5.76 ± 3.18 days, P < 0.001). CONCLUSIONS: COVID-19 significantly increased the incidence of GBS. Most COVID-GBS patients fell into the category of AIDP, responded well to IVIg, and had a favorable prognosis.


Assuntos
COVID-19 , Síndrome de Guillain-Barré , SARS-CoV-2 , Humanos , Síndrome de Guillain-Barré/epidemiologia , COVID-19/epidemiologia , China/epidemiologia , Masculino , Feminino , Pessoa de Meia-Idade , Adulto , Incidência , Idoso , Hospitalização/estatística & dados numéricos , Adulto Jovem , Pandemias , Adolescente
3.
BMC Neurosci ; 24(1): 40, 2023 07 31.
Artigo em Inglês | MEDLINE | ID: mdl-37525090

RESUMO

BACKGROUND: Previous studies have demonstrated that electrical stimulation of the cerebellar fastigial nucleus (FNS) can considerably decrease infarction volume and improve neurofunction restoration following cerebral ischemia. Nevertheless, the molecular mechanism of the neuroprotective effect of FNS is still vague. METHODS: In this study, we developed a rat model of ischemia/reperfusion that included 1 h FNS followed by reperfusion for 3, 6, 12, 24, and 72 h. The expression profile of molecular alterations in brain tissues was obtained by transcriptome sequencing at five different time points. The function and pathway of miRNA expression pattern and core genes were annotated by Allen Brain Atlas, STRING database and Cytoscape software, so as to explore the mechanism of FNS-mediated neuroprotection. RESULTS: The results indicated that FNS is associated with the neurotransmitter cycle pathway. FNS may regulate the release of monoamine neurotransmitters in synaptic vesicles by targeting the corresponding miRNAs through core Dlg4 gene, stimulate the Alternative polyadenylation (APA) incident's anti -apoptosis effect on the brain, and stimulate the interaction activation of neurons in cerebellum, cortex/thalamus and other brain regions, regulate neurovascular coupling, and reduce cerebral damage. CONCLUSION: FNS may activate neuronal and neurovascular coupling by regulating the release of neurotransmitters in synaptic vesicles through the methylation of core Dlg4 gene and the corresponding transcription factors and protein kinases, inducing the anti-apoptotic mechanism of APA events. The findings from our investigation offer a new perspective on the way brain tissue responds to FNS-driven neuroprotection.


Assuntos
Isquemia Encefálica , MicroRNAs , Fármacos Neuroprotetores , Traumatismo por Reperfusão , Animais , Ratos , Núcleos Cerebelares/fisiologia , Perfilação da Expressão Gênica , Infarto da Artéria Cerebral Média , Isquemia , Fármacos Neuroprotetores/farmacologia , Ratos Sprague-Dawley
4.
Neurol Sci ; 44(11): 3919-3927, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37368071

RESUMO

OBJECTIVE: Dysphagia is a common and serious clinical symptom of amyotrophic lateral sclerosis (ALS). The study aimed to evaluate the diagnostic utility of four dysphagia screening tools in ALS, including the ALS Functional Rating Scale-Revised (ALSFRS-R) bulbar subscale, water-swallowing test (WST), Eating Assessment Tool-10 (EAT-10) and Sydney Swallow Questionnaire (SSQ). METHODS: A total of 68 individuals from First Hospital, Shanxi medical university, were recruited in the study. The ALSFRS-R, WST, EAT-10, SSQ and the gold standard video fluoroscopic swallowing study (VFSS) were performed. The Penetration Aspiration Scale (PAS) during VFSS was assessed to identify unsafe swallowing (PAS ≥ 3) and aspiration (PAS ≥ 6). Receiver operator characteristic curve (ROC) analyses were performed to evaluate the accuracy of the 4 tools. Youden index was used to determine the ideal cut-off value for each tool. RESULTS: Of the patients, 20.59% (14/68) presented unsafety swallowing and 16.18% (11/68) had aspiration. The four tools could effectively identify patients with unsafe swallowing and aspiration. The EAT-10 had the maximum AUC (0.873 and 0.963, respectively) among the tools in the diagnosis of unsafe swallowing and aspiration. To detect unsafe swallowing and aspiration, an EAT-10 score of 6 (sensitivity: 78.6%, specificity: 87.0%) and an EAT-10 score of 8 (sensitivity: 90.9%, specificity: 91.2%), were the most appropriate cut-off points, respectively. CONCLUSIONS: The ALSFRS-R bulbar subscale, WST, EAT-10, and SSQ could effectively identify unsafe swallowing and aspiration in patients with ALS. Of the four tools, the EAT-10 was relatively accurate, safe, and convenient. Further studies including more patients should be conducted to verify the conclusions.

5.
Cerebellum ; 21(2): 253-263, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-34164777

RESUMO

We aimed to explore the altered functional connectivity patterns within cerebello-cerebral circuits in temporal lobe epilepsy (TLE) patients with and without focal to bilateral tonic-clonic seizures (FBTCS). Forty-two patients with unilateral TLE (21 with and 21 without FBTCS) and 22 healthy controls were recruited. We chose deep cerebellar nuclei as seed regions, calculated static and dynamic functional connectivity (sFC and dFC) in the patients with and without FBTCS and healthy controls, and compared sFC and dFC among the three groups. Correlation analyses were used to assess relationships between the significantly altered imaging features and patient clinical parameters. Compared to the group without FBTCS, the FBTCS group showed decreased sFC between the right dentate nuclei and left hemisphere regions including the middle frontal gyrus, superior temporal gyrus, superior medial frontal gyrus and posterior cingulate gyrus, and significantly increased dFC between the right interposed nuclei and contralateral precuneus. Relative to HCs, the FBTCS group demonstrated prominently decreased sFC between the right dentate nuclei and left middle frontal gyrus. No significant correlations between the altered imaging features and patient clinical parameters were observed. Our results suggest that the disrupted cerebello-cerebral FC might be related to cognitive impairment, epileptogenesis, and propagation of epileptic activities in patients with FBTCS.


Assuntos
Epilepsia do Lobo Temporal , Encéfalo , Núcleos Cerebelares/diagnóstico por imagem , Córtex Cerebral/diagnóstico por imagem , Epilepsia do Lobo Temporal/diagnóstico por imagem , Epilepsia do Lobo Temporal/psicologia , Humanos , Imageamento por Ressonância Magnética , Convulsões/diagnóstico por imagem
6.
Eur J Neurol ; 29(1): 277-285, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34546615

RESUMO

BACKGROUND AND PURPOSE: Anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis is characterized by a range of cognitive impairments, especially in executive function. Our study aims to identify the abnormal regional homogeneity (ReHo) in anti-NMDAR encephalitis patients and its relationship with the executive function. METHODS: Forty patients and 42 healthy volunteers undertook an Attention Network Test and a resting-state functional magnetic resonance imaging scan. ReHo analysis was performed to investigate the neuronal activity synchronization in all subjects. Based on ReHo analysis, a multivariate pattern analysis (MVPA) was carried out to identify the brain regions that differed the most between the two groups. RESULTS: Compared to controls, the patients had higher executive control scores (p < 0.05). The patients presented reduced ReHo values in the bilateral posterior cerebellar lobe, anterior cerebellar lobe, midbrain, bilateral caudate nucleus, right superior frontal gyrus, right middle temporal gyrus, bilateral inferior parietal lobule and the left middle frontal gyrus. The ReHo values of the bilateral inferior parietal lobule in patients were found to be negatively associated with executive control scores. The classification of patients and controls using MVPA had an accuracy of 76.83%, a sensitivity of 82.50%, a specificity of 71.43% and the area under the curve was 0.83. CONCLUSIONS: Our study provides evidence of abnormal cerebral function in anti-NMDAR encephalitis patients, which may contribute to unveiling the neuropathological mechanisms of anti-NMDAR encephalitis and their influences on executive dysfunction. The MVPA classifier, based on ReHo, is helpful in identifying anti-NMDAR encephalitis patients from healthy controls.


Assuntos
Encefalite Antirreceptor de N-Metil-D-Aspartato , Disfunção Cognitiva , Encefalite Antirreceptor de N-Metil-D-Aspartato/complicações , Encefalite Antirreceptor de N-Metil-D-Aspartato/diagnóstico por imagem , Encéfalo/patologia , Mapeamento Encefálico/métodos , Disfunção Cognitiva/complicações , Disfunção Cognitiva/etiologia , Humanos , Imageamento por Ressonância Magnética/métodos
7.
BMC Neurol ; 22(1): 14, 2022 Jan 07.
Artigo em Inglês | MEDLINE | ID: mdl-34996377

RESUMO

BACKGROUND: Temporal lobe epilepsy (TLE) is commonly refractory. Epilepsy surgery is an effective treatment strategy for refractory epilepsy, but patients with a history of focal to bilateral tonic-clonic seizures (FBTCS) have poor outcomes. Previous network studies on epilepsy have found that TLE and idiopathic generalized epilepsy with generalized tonic-clonic seizures (IGE-GTCS) showed altered global and nodal topological properties. Alertness deficits also were found in TLE. However, FBTCS is a common type of seizure in TLE, and the implications for alertness as well as the topological rearrangements associated with this seizure type are not well understood. METHODS: We obtained rs-fMRI data and collected the neuropsychological assessment data from 21 TLE patients with FBTCS (TLE- FBTCS), 18 TLE patients without FBTCS (TLE-non- FBTCS) and 22 controls, and constructed their respective functional brain networks. The topological properties were analyzed using the graph theoretical approach and correlations between altered topological properties and alertness were analyzed. RESULTS: We found that TLE-FBTCS patients showed more serious impairment in alertness effect, intrinsic alertness and phasic alertness than the patients with TLE-non-FBTCS. They also showed significantly higher small-worldness, normalized clustering coefficient (γ) and a trend of higher global network efficiency (gE) compared to TLE-non-FBTCS patients. The gE showed a significant negative correlation with intrinsic alertness for TLE-non-FBTCS patients. CONCLUSION: Our findings show different impairments in brain network information integration, segregation and alertness between the patients with TLE-FBTCS and TLE-non-FBTCS, demonstrating that impairments of the brain network may underlie the disruptions in alertness functions.


Assuntos
Epilepsia Generalizada , Epilepsia do Lobo Temporal , Encéfalo/diagnóstico por imagem , Epilepsia do Lobo Temporal/complicações , Epilepsia do Lobo Temporal/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética , Convulsões
8.
Epilepsy Behav ; 129: 108490, 2022 04.
Artigo em Inglês | MEDLINE | ID: mdl-35180570

RESUMO

OBJECTIVES: Temporal lobe epilepsy (TLE) is one of the most common focal epilepsies. Some patients with TLE have ictal panic (IP), which is often confused with panic attack (PA) in panic disorder (PD). Previous studies have described temporal lobe epilepsy with ictal panic (TLEIP), but the specific mechanisms remain unclear. Here, we used resting-state functional magnetic resonance imaging (rs-fMRI) to investigate local brain abnormalities in patients with TLEIP and tried to find neural markers to explore the mechanism of IP in patients with TLE. METHODS: A total of 40 patients with TLE, including 28 patients with TLE and 12 patients with TLEIP along with 30 age- and gender-matched healthy controls were included. We collected clinical/physiological/neuropsychological and rs-fMRI data. Fractional amplitude of low-frequency fluctuation (fALFF), regional homogeneity (ReHo), and degree centrality (DC) were calculated. ANOVA was used to find different areas and t-tests used to compare differences among fALFF, ReHo, and DC. Correlation analyses explored the relationship between local brain abnormalities and patient characteristics. RESULTS: No significant differences in age and gender were found among the three groups, nor were there differences in education level, Montreal Cognitive Assessment (MOCA) and Hamilton Anxiety Scale (HAMA) between the TLEIP and TLE groups. All the onset sites of patients with TLEIP were on the right. In addition to fear, other symptoms observed included nausea, palpitations, rising epigastric sensation, and dyspnea. There were no correlations between duration of IP and HAMA (p = 0.659). Moreover, all IP durations were <2 min and most <1 min. Compared to the HCs group, the ReHo value of the TLEIP group in the right middle frontal gyrus was significantly decreased (GRF correction, two-tailed, voxel level P < 0.005, cluster level P < 0.05). Compared to the HCs and TLE groups, the DC value of the TLEIP group in the left middle temporal gyrus (MTG) was significantly increased (GRF correction, two-tailed, voxel level P < 0.005, cluster level P < 0.05). No regions showed any significant fALFF difference between HCs and TLE groups (GRF correction, two-tailed, voxel level P < 0.005, cluster level P < 0.05). CONCLUSIONS: This research describes local brain abnormalities in patients with TLE presenting as IP. These results will be preliminarily conducive to understand the seizure mechanism of IP in patients with TLE, find out the MRI neural markers, and to further explore the neurophysiological mechanisms of IP in patients with TLE.


Assuntos
Epilepsia do Lobo Temporal , Imageamento por Ressonância Magnética , Biomarcadores , Encéfalo/diagnóstico por imagem , Mapeamento Encefálico/métodos , Epilepsia do Lobo Temporal/complicações , Epilepsia do Lobo Temporal/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética/métodos
9.
Neurol Sci ; 43(4): 2579-2587, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-34564799

RESUMO

OBJECTIVE: The aim of our study was to investigate the genetic characteristics in patients with familial or young-onset amyotrophic lateral sclerosis (ALS) in a Chinese center. METHODS: Patients with familial or young-onset (age of onset < 45 years old) ALS were reviewed. The clinical data was collected. Whole-exome sequencing was performed to identify the disease-associated variants. Single-nucleotide variants and small insertions/deletions were further predicted with silico tools and compared to the Single Nucleotide Polymorphism Database, Exome Aggregation Consortium, and the 1000 Genomes Project. The evolutionary conservations were estimated, and the structures of proteins were constructed by Swiss-Model server. Immunohistochemistry was used to confirm the misfolded SOD1 protein. RESULTS: Three familial ALS and 5 young-onset ALS were enrolled. Genetic analysis identified related variants of SOD1 (4/6, 66.7%), FUS (1/6, 16.7%), and NEK1 (1/6, 16.7%) in 6 patients. Three of them were familial probands (3/3, 100%), and the others were sporadic young-onset patients (3/5, 60%). NEK1 c.290G > A mutation (NM_012224.2 exon4) in a patient with familial ALS and SOD1 c.362A > G mutation (NM_000454 exon5) in a young-onset ALS patient were novel. The novel mutations were predicted to be deleterious, affected evolutionarily highly conserved amino acid residue and the formation of hydrogen bonds between the mutated site and its surrounding amino acid residues. Misfolded SOD1 protein was identified in patient with SOD1 c.362A > G mutation. CONCLUSIONS: Two novel mutations were detected in our patients. Patients with familial or young-onset ALS often carried related gene mutations, and genetic sequencing should be thus routinely performed.


Assuntos
Esclerose Lateral Amiotrófica , Esclerose Lateral Amiotrófica/genética , Povo Asiático/genética , China , Testes Genéticos , Humanos , Pessoa de Meia-Idade , Mutação/genética , Proteína FUS de Ligação a RNA/genética , Superóxido Dismutase-1/genética
10.
J Neurosci Res ; 99(10): 2688-2705, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34269468

RESUMO

The brain network alterations associated with temporal lobe epilepsy (TLE) progression are still unclear. The purpose of this study was to investigate altered patterns of static and dynamic functional network connectivity (sFNC and dFNC) in TLE with different durations of disease. In this study, 19 TLE patients with a disease duration of ≤5 years (TLE-SD), 24 TLE patients with a disease duration of >5 years (TLE-LD), and 21 healthy controls (HCs) underwent resting-state functional magnetic resonance imaging and attention network test. We used group independent component analysis to determine the target resting-state networks. Sliding window correlation and k-means clustering analysis methods were used to obtain different dFNC states, temporal properties, and temporal variability. We then compared sFNC and dFNC between groups and found that compared with HCs, TLE-SD patients had increased sFNC between the dorsal attention network and sensorimotor network/visual network (VN), but decreased sFNC between the inferior-posterior default mode network and VN. In the strongly connected dFNC state, TLE-SD patients spent more time, had greater mean dwell time, and showed greater inconsistent abnormal network connectivity. There was a significant negative correlation between the temporal variability of auditory network- left fronto-parietal network connectivity and orienting effect. No significant differences in sFNC and dFNC were detected between TLE-LD and HC groups. These findings suggest that the damage and functional brain network abnormalities gradually occur in TLE patients after the onset of epilepsy, which might lead to functional network reorganization and compensatory remodeling as the disease progresses.


Assuntos
Atenção/fisiologia , Encéfalo/diagnóstico por imagem , Epilepsia do Lobo Temporal/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Rede Nervosa/diagnóstico por imagem , Adulto , Encéfalo/fisiopatologia , Estudos Transversais , Epilepsia do Lobo Temporal/fisiopatologia , Feminino , Humanos , Masculino , Rede Nervosa/fisiopatologia , Fatores de Tempo , Adulto Jovem
11.
Muscle Nerve ; 64(6): 739-743, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34506042

RESUMO

INTRODUCTION/AIMS: Patients with acute motor axonal neuropathy (AMAN) generally have pure motor neuropathy and clinicians usually do not link pain with AMAN. The aim of this retrospective study was to describe the character, location, and intensity of pain in AMAN and acute inflammatory demyelinating polyneuropathy (AIDP) in the acute phase. METHODS: This was a retrospective study in 44 patients with Guillain-Barré syndrome (GBS) having progressive weakness of more than one limb. The information, including the demographic characteristics, preceding infections, clinical symptoms and signs, severity at nadir, the characteristics of pain, use of analgesics, laboratory and electrophysiological data, and the medical treatment for GBS, were collected from the medical records. RESULTS: In 44 patients, 40.9% were diagnosed as AMAN, and 34.1% as AIDP. Pain was more prevalent in AMAN (76.5%) than in AIDP (26.7%, P = .02). Low back and extremities were the most common locations of pain in AMAN (7/13 and 7/13, respectively) and AIDP (2/4 and 2/4, respectively). DISCUSSION: Pain was a common symptom in AMAN in the acute stage. The presence or absence of pain is not useful for distinguishing AIDP from AMAN.


Assuntos
Síndrome de Guillain-Barré , Fenômenos Eletrofisiológicos , Síndrome de Guillain-Barré/complicações , Síndrome de Guillain-Barré/diagnóstico , Síndrome de Guillain-Barré/terapia , Humanos , Dor/etiologia , Estudos Retrospectivos
12.
Neuroradiology ; 63(11): 1873-1882, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33938990

RESUMO

PURPOSE: This study aimed to investigate how the functional homotopy and further functional connectivity (FC) of whole brain changed in temporal lobe epilepsy (TLE). We also evaluated which brain regions played a decisive role in classification by using functional magnetic resonance imaging (fMRI). METHODS: Patients with TLE and matched healthy controls were included to collect the fMRI data and perform the voxel-mirrored homotopic connectivity (VMHC) and FC analyses. The correlation between the changed functional homotopy and neuropsychology tests was examined. Based on VMHC, the weight of each region in the classification was obtained using multivariate pattern analysis (MVPA). RESULTS: The patients exhibited decreased functional coordination in the bilateral inferior temporal gyrus (ITG) and increased functional homotopy in the bilateral lingual gyrus compared with the control group in the VMHC analysis. Compared with healthy controls, the Montreal Cognitive Assessment score was lower, and the scores of Hamilton Anxiety (HAMA) and Hamilton Depression Scales were higher. The score of the HAMA Scale was positively correlated with the altered bilateral ITG. The FC analysis revealed increased connections between the right lingual gyrus and the left superior temporal gyrus/left insula. The MVPA showed that the accuracy, sensitivity, and specificity of classification were 68.49, 66.67 and 70.27%, respectively, and it confirmed that the temporal lobe, cerebellum, and parietal lobe provided significant contributions. CONCLUSION: These findings demonstrated that the VMHC and FC changed in TLE, and the alterations were correlated with the anxiety state. The MVPA indicated that the abnormal VMHC was a crucial fMRI feature.


Assuntos
Epilepsia do Lobo Temporal , Imageamento por Ressonância Magnética , Encéfalo , Mapeamento Encefálico , Córtex Cerebral , Epilepsia do Lobo Temporal/diagnóstico por imagem , Humanos
13.
Neurol Sci ; 42(9): 3695-3705, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-33443672

RESUMO

The Dynactin 1 (DCTN1) encodes the p150 subunit of dynactin, which engages retrograde axonal transport. Missense mutations in DCTN1 have been linked to a series of neurodegenerative diseases, including distal hereditary motor neuropathies (dHMN) and Perry syndrome. A few pathogenic DCTN1 mutations related with Perry syndrome have been described within, or adjacent to, the highly conserved N-terminal cytoskeleton-associated protein, glycine-rich (CAP-Gly) domain. But to our best knowledge, only the pathogenic G59S mutation in DCTN1 has been reported in dHMN7B families. Herein, we provided a novel heterozygous mutation in DCTN1 which caused both dHMN7B and Perry syndrome from a Chinese family. Whole exome sequencing (WES) was performed to identify the disease-associated genes. Single nucleotide variants (SNVs) and small insertions/deletions (INDELs) were further predicted with Mutation Taster, Polymorphism Phenotyping v2 (PolyPhen-2), and Sorting Intolerant From Tolerant (SIFT) and compared to the Single Nucleotide Polymorphism Database(dbSNP), Exome Aggregation Consortium (ExAC), and the 1000 Genomes Project. Furthermore, a novel missense mutation c.279G>C (Q93H) in DCTN1 was identified as the candidate loci. The mutation was confirmed with Sanger sequencing in the family members and cosegregated with various phenotypes. In silico analysis and molecular structural modeling, the mutation not only caused the loss of a hydrogen bond within the p150 protein but also affected the formation of hydrogen bonds between p150 and EB. Therefore, the new Q93H mutation in DCTN1 caused both familial dHMN7B and Perry syndrome. Our findings could expand the clinical and pathogenic spectrum and strengthen the clinical diagnostic role of the DCTN1 gene.


Assuntos
Mutação de Sentido Incorreto , Transtornos Parkinsonianos , China , Depressão , Complexo Dinactina/genética , Humanos , Hipoventilação , Mutação , Mutação de Sentido Incorreto/genética
14.
Neurol Sci ; 42(11): 4657-4666, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33704599

RESUMO

OBJECTIVE: The aim of our study was to elucidate the characteristic of fasciculation distributions in amyotrophic lateral sclerosis (ALS) using a fasciculation score (FS) of muscle ultrasound (MUS) and to compare the diagnostic values of three MUS fasciculation parameters in patients. METHODS: Thirty ALS patients, 16 ALS mimics, and 10 healthy subjects were involved. MUS of unilateral 10 muscles in each patient and needle electromyography (EMG) of total 204 muscles were performed to detect fasciculations and spontaneous activity respectively in ALS. Control groups underwent only MUS. Fasciculation was graded semiquantitatively with FS. RESULTS: Three hundred fifty muscles in ALS and 260 in controls were examined. The fasciculation detection rates, total FS, the number of muscles with fasciculation, and the total number of fasciculations in ALS were all significantly higher than those of controls (P < 0.001). ALS patients exhibited a multifocal continuous pattern of fasciculation in limbs, whereas there were few fasciculations in controls. Compared with other parameters, total FS had the largest area under the curve (AUC) (AUC = 0.899, P < 0.001) in ALS diagnosis. The detection rates of lower motor neuron (LMN) acute lesions by MUS (70.6%) and EMG (72.1%) were nearly the same, and a positive correlation between the FS and spontaneous activity grades (P < 0.001, r = 0.359) was proved. CONCLUSIONS: ALS patients exhibited the multifocal continuous pattern of fasciculation in limbs. FS showed high sensitivity and specificity in differentiating ALS from non-ALS patients, and the optimal cut-off value was determined as 4. The combination of MUS and EMG can provide additional information about specific muscles.


Assuntos
Esclerose Lateral Amiotrófica , Fasciculação , Esclerose Lateral Amiotrófica/diagnóstico por imagem , Biomarcadores , Eletromiografia , Fasciculação/diagnóstico por imagem , Fasciculação/etiologia , Humanos , Músculo Esquelético/diagnóstico por imagem
15.
Epilepsy Behav ; 112: 107369, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32858367

RESUMO

OBJECTIVE: Focal impaired awareness seizures are common in temporal lobe epilepsy (TLE). The cognitive impairment associated with this type of seizure is unclear. Alertness is a fundamental aspect of cognition. The locus coeruleus (LC) is closely related to alertness. We aimed to assess the impairment in alertness and LC-related alertness network in patients with focal impaired awareness seizures. METHODS: Patients with unilateral TLE were grouped into the only focal impaired awareness seizure group (focal group, n = 19) and the focal impaired awareness seizure with focal to bilateral tonic-clonic seizure (FBTCS) group (FBTCS group, n = 19) and compared with matched healthy controls (HC, n = 19). Alertness was assessed with the attention network test. Functional magnetic resonance imaging (fMRI) was used to construct an alertness-related LC-based functional connectivity (FC) network. RESULTS: The focal group exhibited impaired tonic and phasic alertness and exhibited a decreased trend of LC-based FC to the left superior frontal gyrus (SFG). The FBTCS group exhibited impaired tonic alertness, phasic alertness, and alertness efficiency. No significant difference or trend in LC-based FC was found in the FBTCS group. SIGNIFICANCE: This study reveals disrupted alertness and alertness-related LC-based FC in patients with focal impaired awareness seizures. Our results further demonstrate that the patterns of impaired alertness and of changed LC-based FC were not significantly different between focal impaired awareness seizures and FBTCS.


Assuntos
Epilepsias Parciais , Epilepsia do Lobo Temporal , Epilepsia do Lobo Temporal/complicações , Epilepsia do Lobo Temporal/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética , Córtex Pré-Frontal , Convulsões
16.
Epilepsy Behav ; 103(Pt A): 106858, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31899164

RESUMO

In this study, we aimed to detect longitudinal alterations in local spontaneous brain activity and functional connectivity (FC) of the default mode network (DMN) in patients with temporal lobe epilepsy (TLE) over a two-year follow-up. We used amplitude of low-frequency fluctuation (ALFF) analysis and independent component analysis (ICA) to explore differences in local spontaneous brain activity and FC strength. In total, 33 participants (16 patients with TLE and 17 age- and gender-matched healthy controls (HCs)) were recruited in this study. All participants performed the Attention Network Test (ANT) for evaluation of the executive control function. Compared with healthy patients at baseline, patients with TLE at follow-up exhibited increased ALFF values in the left medial frontal gyrus, as well as reduced FC values in the left inferior parietal gyrus (IPG) within the DMN. Patients with TLE revealed executive dysfunction, but no progressive deterioration was observed during follow-up. This study revealed the abnormal distribution of ALFF values and Rs-FC changes over a two-year follow-up period in TLE, both of which demonstrated different reorganization trajectories and loss of efficiency.


Assuntos
Encéfalo/diagnóstico por imagem , Epilepsia do Lobo Temporal/diagnóstico por imagem , Imageamento por Ressonância Magnética/tendências , Descanso , Adulto , Atenção/fisiologia , Encéfalo/fisiopatologia , Epilepsia do Lobo Temporal/fisiopatologia , Função Executiva/fisiologia , Feminino , Seguimentos , Humanos , Estudos Longitudinais , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Descanso/fisiologia , Fatores de Tempo , Adulto Jovem
17.
Neurol Sci ; 41(8): 2165-2174, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32152874

RESUMO

OBJECTIVE: Levetiracetam (LEV) is an antiepileptic drug with a novel pharmacological mechanism. Advances in functional magnetic resonance imaging (fMRI) enable researchers to explore the cognitive effects of antiepileptic drugs on the living brain. This study aimed to explore how the functional connectivity patterns of the cognitive networks changed in association with LEV treatment. METHODS: Patients with temporal lobe epilepsy (TLE), including both users and nonusers of LEV, were included in this study along with healthy controls. Core cognitive networks were extracted using an independent component analysis approach. Functional connectivity patterns within and between networks were investigated. The relationships between functional connectivity patterns and clinical characteristics were also examined. RESULTS: The patterns of intranetwork connectivity in the default mode network (DMN), left executive control network (lECN), and dorsal attention network (DAN) differed among the three groups. The internetwork interactions did not show intergroup differences once corrected for multiple comparisons. No correlation between functional connectivity and clinical characteristics was found in patients with TLE. CONCLUSIONS: Changes in intranetwork connectivity are a key effect of LEV administration. SIGNIFICANCE: Alterations in intranetwork connectivity patterns may underlie the cognitive effects of LEV administration; this finding improves our understanding of the neural mechanisms of LEV therapy.


Assuntos
Epilepsia do Lobo Temporal , Encéfalo/diagnóstico por imagem , Mapeamento Encefálico , Epilepsia do Lobo Temporal/diagnóstico por imagem , Epilepsia do Lobo Temporal/tratamento farmacológico , Humanos , Levetiracetam/uso terapêutico , Imageamento por Ressonância Magnética , Rede Nervosa
18.
Epilepsy Behav ; 96: 80-86, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-31103016

RESUMO

Numerous studies have highlighted important roles for the cerebellum in cognition and movement, based on numerous fiber connections between the cerebrum and cerebellum. Abnormal cerebellar activity caused by epileptic discharges has been reported in previous studies, but researchers have not clearly determined whether aberrant cerebellar activity contributes to the disruption of the cerebellar-cerebral networks in right temporal lobe epilepsy (rTLE). Here, thirty patients with rTLE and 30 age- and sex-matched healthy controls (HCs) were recruited. All participants underwent the Attention Network Test (ANT) and resting-state functional magnetic resonance imaging (rs-fMRI) scanning. Cerebellar functional networks were extracted and analyzed by defining seeds in the cerebellum. A correlation analysis was performed between attentional performance and voxels that showed differences in functional connectivity (FC) in patients compared with HCs. Relative to HCs, patients exhibited significantly decreased FC in the dentate nucleus (DN) network (right DN with the left postcentral gyrus, left precentral gyrus, left cuneus, and left calcarine gyrus) and motor network (right cerebellar lobule V with the right putamen) and increased FC in the executive control network (right cerebellar crus I with the right inferior parietal lobule). Alerting, orienting, and executive control performances were impaired in patients with rTLE. Furthermore, the executive control effect was significantly correlated with aberrant FC strength between the right DN and the left precentral/postcentral gyrus. Our findings highlight that the disrupted cerebellar-cerebral functional network ipsilateral to the epileptogenic focus causes both impairments in and compensatory effects on attentional deficits in patients with rTLE. These findings contribute to our understanding of the cerebellar damage caused by epileptic discharges and the corresponding effect on attentional performance.


Assuntos
Cerebelo/diagnóstico por imagem , Epilepsia do Lobo Temporal/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Rede Nervosa/diagnóstico por imagem , Descanso/fisiologia , Lobo Temporal/diagnóstico por imagem , Adulto , Cerebelo/fisiopatologia , Epilepsia do Lobo Temporal/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Rede Nervosa/fisiopatologia , Lobo Temporal/fisiopatologia , Adulto Jovem
19.
Analyst ; 143(1): 280-288, 2017 Dec 18.
Artigo em Inglês | MEDLINE | ID: mdl-29184931

RESUMO

A double-functionalized polymer monolithic column was fabricated within the confines of a stainless-steel column (50 mm × 4.6 mm i.d.) via a facile method using iron porphyrin, ionic liquid (1-allyl-3-methylimidazolium chloride) and 1,10-decanediol dimethacrylate as tri-monomers; ethylene dimethacrylate as a crosslinker; polyethylene glycol 400 and N,N-dimethylformamide as co-porogens; benzoyl peroxide and N,N-dimethyl aniline as the redox initiation system. Results obtained from scanning electron microscopy, nitrogen adsorption-desorption, and mercury intrusion porosimetry confirmed the uniform pore structure and the pore size distribution of macro-pores. The home-made monolith was further characterized by elemental analysis to investigate the elemental composition of Fe supplied by iron porphyrin, confirming the synthetic process. The resulting optimized monolithic column was used as the stationary phase in high performance liquid chromatography for separating proteins, such as mixture of standard proteins, egg white, and human plasma, exhibiting good selectivity and high performance. It is worth noting that the home-made double-functionalized polymer monolithic column shows excellent selectivity for fractionation separation of human plasma proteins, and it is a promising separation tool for complex bio-samples in proteomic research.


Assuntos
Proteínas Sanguíneas/isolamento & purificação , Proteínas do Ovo/isolamento & purificação , Proteômica , Adsorção , Cromatografia Líquida de Alta Pressão , Clara de Ovo/química , Humanos , Microscopia Eletrônica de Varredura , Polímeros
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