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1.
J Integr Neurosci ; 20(1): 143-151, 2021 Mar 30.
Artigo em Inglês | MEDLINE | ID: mdl-33834702

RESUMO

Infantile hypertonic myofibrillar myopathy is characterized by the rapid development of rigid muscles and respiratory insufficiency soon after birth, with very high mortality. It is extremely rare, and only a few cases having been reported until now. Here we report four Chinese infants with fatal neuromuscular disorders characterized by abdominal and trunk skeletal muscle stiffness and rapid respiratory insufficiency progression. Electromyograms showed increased insertion activities and profuse fibrillation potentials with complex repetitive discharges. Immunohistochemistry staining of muscle biopsies showed accumulations of desmin in the myocytes. Powdery Z-bands with dense granules across sarcomeres were observed in muscle fibers using electron microscopy. All patients carry a homozygous c.3G>A mutation in the CRYAB gene, which resulted in the loss of the initiating methionine and the absence of protein. This study's findings help further understand the disease and highlight a founder mutation in the Chinese population.

2.
Environ Health Prev Med ; 26(1): 10, 2021 Jan 18.
Artigo em Inglês | MEDLINE | ID: mdl-33461491

RESUMO

BACKGROUND: Current studies on the COVID-19 depicted a general incubation period distribution and did not examine whether the incubation period distribution varies across patients living in different geographical locations with varying environmental attributes. Profiling the incubation distributions geographically help to determine the appropriate quarantine duration for different regions. METHODS: This retrospective study mainly applied big data analytics and methodology, using the publicly accessible clinical report for patients (n = 543) confirmed as infected in Shenzhen and Hefei, China. Based on 217 patients on whom the incubation period could be identified by the epidemiological method. Statistical and econometric methods were employed to investigate how the incubation distributions varied between infected cases reported in Shenzhen and Hefei. RESULTS: The median incubation period of the COVID-19 for all the 217 infected patients was 8 days (95% CI 7 to 9), while median values were 9 days in Shenzhen and 4 days in Hefei. The incubation period probably has an inverse U-shaped association with the meteorological temperature. The warmer condition in the winter of Shenzhen, average environmental temperature between 10 °C to 15 °C, may decrease viral virulence and result in more extended incubation periods. CONCLUSION: Case studies of the COVID-19 outbreak in Shenzhen and Hefei indicated that the incubation period of COVID-19 had exhibited evident geographical disparities, although the pathological causality between meteorological conditions and incubation period deserves further investigation. Methodologies based on big data released by local public health authorities are applicable for identifying incubation period and relevant epidemiological research.


Assuntos
/epidemiologia , Período de Incubação de Doenças Infecciosas , Adolescente , Adulto , Idoso , Criança , China/epidemiologia , Feminino , Geografia , Humanos , Masculino , Pessoa de Meia-Idade , Quarentena , Estudos Retrospectivos , Adulto Jovem
3.
Exp Ther Med ; 20(6): 263, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33199988

RESUMO

The current study aimed to analyze the genotype-phenotype relationship in patients with variants of zinc finger E box-binding homeobox 2 (ZEB2), which is a gene encoding a homeobox transcription factor known to be mutated in Mowat Wilson syndrome (MWS). Whole genome sequencing (WGS) was performed in 530 children, of whom 333 had epilepsy with or without developmental delay and 197 developmental delay alone. Pathogenic variants were identified and verified using Sanger sequencing, and the disease phenotypes of the corresponding patients were analyzed for features of MWS. WGS was performed in 333 children with epilepsy, with or without developmental delays or intellectual disability and 197 children with developmental delay alone. A total of 4 unrelated patients were indicated to be heterozygous for truncating mutations in ZEB2. A total of three of these were nonsense mutations (novel Gln1072X and recurrent Trp97X and Arg921X), and one was a frameshift mutation (novel Val357Aspfs*15). The mutations have occurred de novo as confirmed by Sanger sequence comparisons in patients and their parents. All 4 patients exhibited signs of MWS, whereby the severity increased the closer a mutation was located to the amino terminus of the protein. The results suggest that the clinical outcome in MWS depends on the relative position of the truncation in the ZEB2 gene. A number of interpretations of this genotype/phenotype association are discussed in the present study.

4.
Sheng Wu Yi Xue Gong Cheng Xue Za Zhi ; 37(4): 699-707, 2020 Aug 25.
Artigo em Chinês | MEDLINE | ID: mdl-32840088

RESUMO

Electroencephalogram (EEG) has been an important tool for scientists to study epilepsy and evaluate the treatment of epilepsy for half a century, since epilepsy seizures are caused by the diffusion of excessive discharge of brain neurons. This paper reviews the clinical application of scalp EEG in the treatment of intractable epilepsy with vagus nerve stimulation (VNS) in the past 30 years. It mainly introduces the prediction of the therapeutic effect of VNS on intractable epilepsy based on EEG characteristics and the effect of VNS on EEG of patients with intractable epilepsy, and expounds some therapeutic mechanisms of VNS. For predicting the efficacy of VNS based on EEG characteristics, EEG characteristics such as epileptiform discharge, polarity of slow cortical potential changes, changes of EEG symmetry level and changes of EEG power spectrum are described. In view of the influence of VNS treatment on patients' EEG characteristics, the change of epileptiform discharge, power spectrum, synchrony, brain network and amplitude of event-related potential P300 are described. Although no representative EEG markers have been identified for clinical promotion, this review paves the way for prospective studies of larger patient populations in the future to better apply EEG to the clinical treatment of VNS, and provides ideas for predicting VNS efficacy, assessing VNS efficacy, and understanding VNS treatment mechanisms, with broad medical and scientific implications.


Assuntos
Epilepsia Resistente a Medicamentos , Estimulação do Nervo Vago , Eletroencefalografia , Humanos , Estudos Prospectivos , Couro Cabeludo , Resultado do Tratamento
5.
Sci Data ; 7(1): 206, 2020 06 29.
Artigo em Inglês | MEDLINE | ID: mdl-32601290

RESUMO

Benthic fauna refers to all fauna that live in or on the seafloor, which researchers typically divide into size classes meiobenthos (32/64 µm-0.5/1 mm), macrobenthos (250 µm-1 cm), and megabenthos (>1 cm). Benthic fauna play important roles in bioturbation activity, mineralization of organic matter, and in marine food webs. Evaluating their role in these ecosystem functions requires knowledge of their global distribution and biomass. We therefore established the BenBioDen database, the largest open-access database for marine benthic biomass and density data compiled so far. In total, it includes 11,792 georeferenced benthic biomass and 51,559 benthic density records from 384 and 600 studies, respectively. We selected all references following the procedure for systematic reviews and meta-analyses, and report biomass records as grams of wet mass, dry mass, or ash-free dry mass, or carbon per m2 and as abundance records as individuals per m2. This database provides a point of reference for future studies on the distribution and biomass of benthic fauna.

6.
EBioMedicine ; 57: 102840, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32580138

RESUMO

BACKGROUND: Benign Childhood Epilepsy with Centro-temporal Spikes (BECTS) is the most common form of idiopathic epilepsy in children, accounting for up to 23% of pediatric epilepsy. The pathogenesis of BECTS is unknown, but it is thought that genetic factors play a role in susceptibility to the disease. METHODS: To investigate the role of common genetic variants in BECTS pathogenesis, a 2-stage genome-wide association study (GWAS) was performed in 1,800 Chinese Han BECTS patients, and 7,090 healthy controls. Genetic findings were used in a Mendelian Randomization study in the UK Biobank dataset to investigate the potential role of smoking in BECTS. FINDINGS: Definitive evidence of a role for common-variant heritability was demonstrated, with heritability of BECTS of >10% observed even with conservative disease prevalence assumptions. Although no individual locus achieved genome-wide significance, twelve loci achieved suggestive evidence of association (5 × 10-8

7.
J Infect Dev Ctries ; 14(4): 323-327, 2020 04 30.
Artigo em Inglês | MEDLINE | ID: mdl-32379707

RESUMO

INTRODUCTION: Current studies estimated a general incubation period distribution of COVID-19 based on early-confirmed cases in Wuhan, and have not examined whether the incubation period distribution varies across population segments with different travel histories. We aimed to examine whether patients infected by community transmission had extended incubation periods than the early generation patients who had direct exposures to Wuhan. METHODOLOGY: Based on 4741 patient case reports from municipal centers of disease control by February 21, 2020, we calculated the incubation periods of 2555 patients with clear epidemiological survey information and illness development timeline. All patients were categorized into five groups by their travel histories. Incubation period distributions were modeled for each group by the method of the posterior Weibull distribution estimation. RESULTS: Adults aged 30 to 59 years had the most substantial proportion of confirmed cases in China. The incubation period distribution varied slightly across patient groups with different travel histories. Patients who regularly lived in Wuhan and left to other locations before January 23, 2020 had the shortest posterior median value of 7.57 days for the incubation period, while the incubation periods for persons affected by local community transmission had the largest posterior median of incubation periods, 9.31 days. CONCLUSIONS: The median incubation period for all patients infected outside Wuhan was 9 days, a bit of more extended than the early estimated 5-day incubation period that was based on patients in Wuhan. Our findings may imply the decreases of virulence of the COVID-19 virus along with intergenerational transmission.


Assuntos
Infecções por Coronavirus/epidemiologia , Período de Incubação de Doenças Infecciosas , Pneumonia Viral/epidemiologia , Viagem , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Betacoronavirus/isolamento & purificação , Criança , Pré-Escolar , China/epidemiologia , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Pandemias
8.
Front Neurol ; 11: 65, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32117026

RESUMO

Objective: The etiology and outcome of status epilepticus with continuous epileptic spasms have not been fully understood; and only rare cases have been reported in the literature. Here, we described 11 children, who manifested continuous epileptic spasms with various etiologies and different outcomes. Methods: This is a case series study designed to systematically review the charts, video-electroencephalography (video-EEG), magnetic resonance images, and longitudinal follow-up of patients who presented continuous epileptic spasms lasting more than 30 min. Results: Median age at onset was 2 years old, ranging from 2 months to 5.6 years. The etiology of continuous epileptic spasms for these 11 cases consisted of not only some known electro-clinical epilepsy syndromes like West Syndrome and Ohtahara Syndrome, but also secondary symptomatic continuous epileptic spasms, caused by acute encephalitis or encephalopathy, which extends the etiological spectrum of continuous epileptic spasms. The most characteristic feature of these 11 cases was prolonged epileptic spasms, lasting for a median of 13.00 days (95% CI: 7.26-128.22 days). The interictal EEG findings typically manifested as hypsarrhythmia or its variants, including burst suppression. Hospital stays were much longer in acute symptomatic cases than in primary epileptic syndromic cases (59.67 ± 50.82 vs. 15.00 ± 1.41 days). However, the long-term outcomes were extremely poor in the patients with defined electro-clinical epilepsy syndromes, including severe motor and intellectual developmental deficits (follow-up of 4.94 ± 1.56 years), despite early diagnosis and treatment. Continuous epileptic spasms were refractory to corticosteroids, immuno-modulation or immunosuppressive therapies, and ketogenic diet. Conclusion: Continuous epileptic spasms were associated with severe brain impairments in patients with electro-clinical syndromes; and required long hospital stays in patients with acute symptomatic causes. We suggest to include continuous epileptic spasms in the international classification of status epilepticus, as a special form. Further investigations are required to better recognize this condition, better understand the etiology, as well as to explore more effective treatments to improve outcomes.

9.
Stereotact Funct Neurosurg ; 98(2): 73-79, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32036377

RESUMO

INTRODUCTION: Stereoelectroencephalography (SEEG) refers to a commonly used diagnostic procedure to localise and define the epileptogenic zone of refractory focal epilepsies, by means of minimally invasive operation techniques without large craniotomies. OBJECTIVE: This study aimed to investigate the influence of different registration methods on the accuracy of SEEG electrode implantation under neuronavigation for paediatric patients with refractory epilepsy. METHODS: The clinical data of 18 paediatric patients with refractory epilepsy were retrospectively analysed. The SEEG electrodes were implanted under optical neuronavigation while the patients were in the prone position. Patients were divided into two groups on the basis of the surface-based registration of MR scan method and refined anatomy-based registration of CT scan. Registration time, accuracy, and the differences between electrode placement and preoperative planned position were analysed. RESULTS: Thirty-six electrodes in 7 patients were placed under surface-based registration of MR scan, and 45 electrodes in 11 patients were placed under refined anatomy-based registration of CT scan. The registration time of surface-based registration of MR scan and refined anatomy-based registration of CT scan was 45 ± 12 min and 10 ± 4 min. In addition, the mean registration error, the error of insertion point, and target error were 3.6 ± 0.7 mm, 2.7 ± 0.7 mm, and 3.1 ± 0.5 mm in the surface-based registration of MR scan group, and 1.1 ± 0.3 mm, 1.5 ± 0.5 mm, and 2.2 ± 0.6 mm in the refined anatomy-based registration of CT scan group. The differences between the two registration methods were statistically significant. CONCLUSIONS: The refined anatomy-based registration of CT scan method can improve the registration efficiency and electrode placement accuracy, and thereby can be considered as the preferred registration method in the application of SEEG electrode implantation under neuronavigation for treatment of paediatric intractable epilepsy.

10.
Eur J Paediatr Neurol ; 24: 11-14, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31926847

RESUMO

The recent introduction of the term 'developmental and epileptic encephalopathy' by the International League Against Epilepsy has added another conceptual layer to understanding the most severe group of epilepsies. An epileptic encephalopathy is defined by the presence of frequent epileptiform activity that impacts adversely on development, typically causing slowing or regression of developmental skills, and usually associated with frequent seizures. Many of the epileptic encephalopathies are now known to have an identifiable molecular genetic basis. The term 'developmental' was introduced as there are multiple facets leading to developmental impairment in affected individuals. The underlying genetic cause often results in developmental delay in its own right, with the epileptic encephalopathy further adversely affecting development. Treatment of the epileptic encephalopathy may improve developmental progress, so early recognition and active management are essential to improve developmental outcomes. Equally, understanding that the genetic aetiology independently leads to developmental impairment means that precision therapies need to be holistic in addressing the devastating consequences of this group of diseases.


Assuntos
Deficiências do Desenvolvimento/diagnóstico , Síndromes Epilépticas/diagnóstico , Deficiências do Desenvolvimento/complicações , Síndromes Epilépticas/complicações , Síndromes Epilépticas/genética , Humanos
12.
Seizure ; 71: 151-157, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31351306

RESUMO

PURPOSE: We investigated whether the presence of interictal scalp EEG high frequency oscillations (HFOs) in children with epileptic encephalopathy with continuous spike-and-wave during sleep (CSWS) can predict seizure and cognitive outcome after steroid therapy. METHODS: Twenty-two children with CSWS were prospectively enrolled and received methylprednisolone therapy. Interictal scalp HFOs, spike wave index (SWI) and intelligence quotient (IQ) were assessed before and after the treatment. The children were divided into two groups based on the early seizure reduction ratio at 2 weeks (≥50%, "response group"; otherwise "non-response group"). The "response group" was further divided into two subgroups ("relapse" and "non-relapse" subgroups) according to the late seizure outcome (after 3 months). RESULTS: Interictal HFOs and electrical status epilepticus in sleep (ESES) (defined as SWI ≥ 85%) were detected in all children at the baseline. In the response with relapse group (n = 11), the detection ratio of HFOs was significantly higher than that of ESES at 2 weeks (81.2 vs. 27.3%), 3 months (90.9 vs. 36.4%), and 6 months (100 vs. 54.5%) post-therapy. In the non-response group (n = 4), both HFOs and ESES persisted in all children. The average IQ improved significantly only in the response with non-relapse group. The persistence of HFOs negatively correlated with both the average IQ, yet the persistence of ESES did not. CONCLUSION: Interictal scalp HFOs may be a favorable non-invasive biomarker of predicting seizure and cognitive outcome in CSWS.


Assuntos
Ondas Encefálicas/fisiologia , Síndromes Epilépticas/fisiopatologia , Glucocorticoides/farmacologia , Inteligência/fisiologia , Metilprednisolona/farmacologia , Avaliação de Resultados em Cuidados de Saúde , Sono/fisiologia , Estado Epiléptico/tratamento farmacológico , Estado Epiléptico/fisiopatologia , Biomarcadores , Criança , Feminino , Glucocorticoides/administração & dosagem , Humanos , Masculino , Metilprednisolona/administração & dosagem , Estudos Prospectivos
13.
Zhongguo Dang Dai Er Ke Za Zhi ; 21(4): 375-380, 2019 Apr.
Artigo em Chinês | MEDLINE | ID: mdl-31014432

RESUMO

Lysinuric protein intolerance (LPI) is an autosomal recessive disorder caused by SLC7A7 gene mutation and often involves severe lesions in multiple systems. Lung involvement is frequently seen in children with LPI and such children tend to have a poor prognosis. This article summarizes the clinical manifestations and gene mutation characteristics of three children diagnosed with LPI by SLC7A7 gene analysis. All three children had the manifestations of aversion to protein-rich food after weaning, delayed development, anemia, hepatosplenomegaly, and osteoporosis, as well as an increase in orotic acid in urine. In addition, interstitial pneumonia and diffuse pulmonary interstitial lesions were observed in two children. SLC7A7 gene detection showed three pathogenic mutations in these children, namely c.1387delG(p.V463CfsX56), c.1215G>A(p.W405X) and homozygous c.625+1G>A. After a definite diagnosis was made, all three children were given a low-protein diet and oral administration of citrulline [100 mg/(kg.d)], iron protein succinylate [4 mg/(kg.d)], calcium and zinc gluconates oral solution (10 mL/day) and vitamin D (400 IU/day). In addition, patient 3 was given prednisone acetate (5 mg/day). The children had varying degrees of improvement in symptoms and signs. It is hard to distinguish LPI from urea cycle disorder due to the features of amino acid and organic acid metabolism in LPI, and SLC7A7 gene analysis is the basis for a definite diagnosis of LPI.


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos , Cadeias Leves da Proteína-1 Reguladora de Fusão/genética , Erros Inatos do Metabolismo dos Aminoácidos/genética , Sistema y+L de Transporte de Aminoácidos , Criança , Citrulina , Humanos , Lisina , Mutação
14.
Trials ; 20(1): 44, 2019 Jan 14.
Artigo em Inglês | MEDLINE | ID: mdl-30642370

RESUMO

BACKGROUND: Recent clinical observations have reported the potential benefit of vagus nerve stimulation (VNS) as an adjunctive therapy for pediatric epilepsy. Preliminary evidence suggests that VNS treatment is effective for seizure reduction and mental development in young participants between 3 and 6 years of age who suffer from intractable epilepsy. However, robust clinical evidence for quantifying the difference of the efficacy and safety of VNS treatment in this specific patient population has yet to be reported. METHODS/DESIGN: A two-armed, multicenter, randomized, double-blind, prospective trial will be carried out to evaluate whether VNS is beneficial and safe for pediatric epilepsy. Pediatric participants aged between 3 to 6 years old with intractable epilepsy will be recruited and randomly assigned to experimental and control groups with a 1:1 allocation using a computer-generating randomization schedule. Before enrollment, informed consent will be signed by the parents of the participants and the study researchers. Participants in the experimental group will receive electrical stimulation over 24 weeks under standard stimulation parameters. Participants in the control group will not receive any stimulation during the 12 weeks of the double-blind period. The guardians of the participants are required to keep a detailed diary to record seizure activity. Outcome assessments including seizure frequency, Gesell Mental Developmental Scale scores, use of antiepileptic drugs and dosages, and adverse events will be collected at baseline, 6, 12, 18 and/or 24 weeks after electrical stimulation is initiated. The effects of treatment will be analyzed with time and treatment group comparisons. DISCUSSION: This trial will evaluate quantitative differences in efficacy and safety with/without VNS treatment for pediatric participants aged between 3 to 6 years with intractable epilepsy and will explore whether the current age range of VNS therapy can be expanded. TRIAL REGISTRATION: ClinicalTrials.gov, ID: NCT03062514 , Registered on 23 February 2017.


Assuntos
Ondas Encefálicas , Encéfalo/fisiopatologia , Epilepsia Resistente a Medicamentos/terapia , Estimulação do Nervo Vago , Fatores Etários , Criança , Comportamento Infantil , Desenvolvimento Infantil , Pré-Escolar , Método Duplo-Cego , Epilepsia Resistente a Medicamentos/diagnóstico , Epilepsia Resistente a Medicamentos/fisiopatologia , Feminino , Humanos , Masculino , Estudos Multicêntricos como Assunto , Estudos Prospectivos , Ensaios Clínicos Controlados Aleatórios como Assunto , Fatores de Tempo , Resultado do Tratamento , Estimulação do Nervo Vago/efeitos adversos
15.
Neurol Sci ; 39(7): 1175-1183, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29637450

RESUMO

To explore the relationship between NF2 promoter gene mutation and the risk of medulloblastomas (MBs). We collected tissues from 16 MB patients and 7 age-matched non-MB controls. Gene sequencing, qPCR (real-time quantitative polymerase chain reaction), IHC (immunohistochemistry), and WB (Western blot) were used to analyze the changes in the NF2 gene sequence and expression between patients and controls. We found that NF2 promoter gene mutations occurred in MB patients. The NF2 mRNA expression was higher in the controls than in patients (p = 0.03 < 0.05); however, the results of IHC and WB demonstrated that the NF2 protein expression was significantly higher in patients than in the controls (IHC: p = 0.0001; WB: p = 0.01). There was no significant difference in the CRL4 mRNA and protein levels. In addition, NF2 protein was mainly expressed in the nucleus in MB patients, while the NF2 protein was mainly expressed in the cytoplasm in the controls. NF2 promoter mutations exist in MB patients. NF2 mRNA expression was higher in controls than patients; whereas NF2 protein level was higher in patients than in controls.


Assuntos
Neoplasias Encefálicas/genética , Predisposição Genética para Doença , Meduloblastoma/genética , Mutação , Neurofibromina 2/genética , Regiões Promotoras Genéticas , Adolescente , Adulto , Encéfalo/metabolismo , Encéfalo/patologia , Encéfalo/cirurgia , Neoplasias Encefálicas/metabolismo , Neoplasias Encefálicas/patologia , Neoplasias Encefálicas/cirurgia , Proteínas de Transporte/metabolismo , Núcleo Celular/metabolismo , Núcleo Celular/patologia , Criança , Pré-Escolar , Citoplasma/metabolismo , Citoplasma/patologia , Feminino , Regulação Neoplásica da Expressão Gênica , Humanos , Lactente , Masculino , Meduloblastoma/metabolismo , Meduloblastoma/patologia , Meduloblastoma/cirurgia , Neurofibromina 2/metabolismo , Proteínas Serina-Treonina Quinases , RNA Mensageiro/metabolismo , Ubiquitina-Proteína Ligases
16.
World J Gastroenterol ; 23(33): 6164-6171, 2017 Sep 07.
Artigo em Inglês | MEDLINE | ID: mdl-28970732

RESUMO

AIM: To investigate whether patients with refractory epilepsy and healthy infants differ in gut microbiota (GM), and how ketogenic diet (KD) alters GM. METHODS: A total of 14 epileptic and 30 healthy infants were recruited and seizure frequencies were recorded. Stool samples were collected for 16S rDNA sequencing using the Illumina Miseq platform. The composition of GM in each sample was analyzed with MOTHUR, and inter-group comparison was conducted by R software. RESULTS: After being on KD treatment for a week, 64% of epileptic infants showed an obvious improvement, with a 50% decrease in seizure frequency. GM structure in epileptic infants (P1 group) differed dramatically from that in healthy infants (Health group). Proteobacteria, which had accumulated significantly in the P1 group, decreased dramatically after KD treatment (P2 group). Cronobacter predominated in the P1 group and remained at a low level both in the Health and P2 groups. Bacteroides increased significantly in the P2 group, in which Prevotella and Bifidobacterium also grew in numbers and kept increasing. CONCLUSION: GM pattern in healthy infants differed dramatically from that of the epileptic group. KD could significantly modify symptoms of epilepsy and reshape the GM of epileptic infants.


Assuntos
Dieta Cetogênica/efeitos adversos , Epilepsia Resistente a Medicamentos/dietoterapia , Microbioma Gastrointestinal/fisiologia , Intestinos/microbiologia , Convulsões/dietoterapia , Bacteroides/isolamento & purificação , Pré-Escolar , Cronobacter/isolamento & purificação , Epilepsia Resistente a Medicamentos/microbiologia , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Proteobactérias/isolamento & purificação , Convulsões/microbiologia , Fatores de Tempo , Resultado do Tratamento
17.
Brain Dev ; 39(9): 743-750, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28545980

RESUMO

OBJECTIVE: Cognitive impairments had been reported in childhood acute lymphoblastic leukemia, what caused the impairments needed to be demonstrated, chemotherapy-related or the disease itself. The primary aim of this exploratory investigation was to determine if there were changes in brain function of children with acute lymphoblastic leukemia before chemotherapy. METHODS: In this study, we advanced a measure named regional homogeneity to evaluate the resting-state brain activities, intelligence quotient test was performed at same time. Using regional homogeneity, we first investigated the resting state brain function in patients with new onset childhood acute lymphoblastic leukemia before chemotherapy, healthy children as control. RESULTS: The decreased ReHo values were mainly founded in the default mode network and left frontal lobe, bilateral inferior parietal lobule, bilateral temporal lobe, bilateral occipital lobe, precentral gyrus, bilateral cerebellum in the newly diagnosed acute lymphoblastic leukemia patients compared with the healthy control. While in contrast, increased ReHo values were mainly shown in the right frontal lobe (language area), superior frontal gyrus-R, middle frontal gyrus-R and inferior parietal lobule-R for acute lymphoblastic leukemia patients group. There were no significant differences for intelligence quotient measurements between the acute lymphoblastic leukemia patient group and the healthy control in performance intelligence quotient, verbal intelligence quotient, total intelligence quotient. CONCLUSION: The altered brain functions are associated with cognitive change and language, it is suggested that there may be cognition impairment before the chemotherapy. Regional homogeneity by functional magnetic resonance image is a sensitive way for early detection on brain damage in childhood acute lymphoblastic leukemia.


Assuntos
Encéfalo/diagnóstico por imagem , Imagem por Ressonância Magnética/métodos , Leucemia-Linfoma Linfoblástico de Células Precursoras/patologia , Descanso , Criança , Pré-Escolar , Feminino , Humanos , Processamento de Imagem Assistida por Computador , Lactente , Inteligência/fisiologia , Masculino , Oxigênio/sangue
18.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 34(2): 228-231, 2017 Apr 10.
Artigo em Chinês | MEDLINE | ID: mdl-28397225

RESUMO

OBJECTIVE: To analyze the clinical and molecular features of a child with carnitine palmitoyltransferase 1A (CPT1A) deficiency. METHODS: Clinical data of the child was collected. Blood acylcarnitine was determined with tandem mass spectrometry. DNA was extracted from the child and his parents. All exons and flanking regions of the CPT1A gene were analyzed by PCR and Sanger sequencing. RESULTS: Analysis showed that the patient carried compound heterozygous mutations c.1787T>C and c.2201T>C of the CPT1A gene, which derived his father and mother, respectively. Both mutations were verified as novel through the retrieval of dbSNP, HGMD and 1000 genome databases. Bioinformatic analysis suggested that the mutations can affect protein function. CONCLUSION: Acyl carnitine analysis has been the main method for the diagnosis of CPT1A deficiency. The c.1787T>C and c.2201T>C mutations of the CPT1A gene probably underlie the disease in this patient. Gene testing can provide important clues for genetic counseling and prenatal diagnosis.


Assuntos
Carnitina O-Palmitoiltransferase/deficiência , Hipoglicemia/genética , Erros Inatos do Metabolismo Lipídico/genética , Sequência de Bases , Carnitina O-Palmitoiltransferase/genética , Éxons , Feminino , Humanos , Hipoglicemia/enzimologia , Lactente , Erros Inatos do Metabolismo Lipídico/enzimologia , Masculino , Dados de Sequência Molecular , Mutação Puntual , Gravidez
19.
Medicine (Baltimore) ; 96(4): e5623, 2017 01.
Artigo em Inglês | MEDLINE | ID: mdl-28121917

RESUMO

This multicenter clinical trial was conducted to examine current practice of benign epilepsy with centrotemporal spikes and especially address the question that in what circumstances 1 antiepileptic drug (AED) should be preferred.Twenty-five medical centers participate in this clinical trial. The general information, clinical information, and treatment status were collected under the guidance of clinicians and then analyzed. Difference between different treatment groups was compared, and usefulness of the most commonly used AEDs was evaluated.A total of 1817 subjects were collected. The average age of the subject was 8.81 years. The average age of onset is 6.85 years (1-14 years). Male-to-female ratio is 1.13:1. A total of 62.9% of the patients are receiving monotherapies, and 10.6% are receiving multidrug therapy. Both age and course of disease of treated rolandic epilepsy (RE) patients are significantly different from those of untreated patients. Bilateral findings on electroencephalography (EEG) are less seen in patients with monotherapy compared with patients with multidrug therapy. Except for 25.4% patients not taking any AEDs, oxcarbazepine (OXC), sodium valproate (VPA), and levetiracetam (LEV) are the most commonly used 3 AEDs. VPA and LEV are commonly used in add-on therapy. OXC and LEV are more effective as monotherapy than VPA.Age of onset of Chinese RE patients is 6.85 years. Bilateral findings on EEG could be a risk factor to require multidrug therapy. In Chinese patients, OXC, VPA, and LEV are most commonly used AEDs as monotherapy and OXC and LEV are more effective than VPA.


Assuntos
Anticonvulsivantes/administração & dosagem , Carbamazepina/análogos & derivados , Epilepsia Rolândica/tratamento farmacológico , Piracetam/análogos & derivados , Ácido Valproico/administração & dosagem , Adolescente , Idade de Início , Encéfalo/fisiopatologia , Carbamazepina/administração & dosagem , Criança , Pré-Escolar , China , Quimioterapia Combinada , Eletroencefalografia , Epilepsia Rolândica/fisiopatologia , Feminino , Humanos , Levetiracetam , Masculino , Oxcarbazepina , Piracetam/administração & dosagem , Adulto Jovem
20.
Seizure ; 38: 17-22, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-27061881

RESUMO

PURPOSE: The ketogenic diet (KD) is an effective treatment for intractable epilepsy (IE), however the therapeutic mechanism is still unclear. This study was designed to investigate T helper type 17/regulatory T cell (Th17/Treg) levels in children with IE and age-matched healthy controls following KD. METHOD: Circulating levels of Th17/Treg cells were analyzed by flow cytometry. Plasma concentration of interleukin (IL)-17 was measured by cytometric bead array assay. Real-time PCR was performed to measure mRNA levels of mTOR, HIF1α and Th17/Treg associated factors in purified CD4(+)CD25(+) T and CD4(+)CD25(-) T cells. RESULTS: By one-way ANOVA, the proportion of circulating Th17 cells and expression of IL-17A and RORγt were significantly higher (P<.05), while the proportion of circulating Tregs and expression of Foxp3, GITR, CTLA-4 were significantly lower (P<.05) in IE patients than healthy subjects. However, these alternations were reversed following KD (P<.05). In CD4(+)CD25(+) T and CD4(+)CD25(-) T cells mTOR and HIF1α expression were significantly higher in IE patients (P<.05), however KD reduced mTOR and HIF1α expression (P<.05). The plasma IL-17A concentrations were higher in IE patients than controls (P<.05). KD partially reduced IL-17A levels (P<.05). CONCLUSION: Our results suggest that Th17/Treg imbalance is characteristic of childhood IE, and may contribute to IE pathogenesis. KD treatment is able to correct this imbalance, probably via inhabiting the mTOR/HIF-1α signaling pathway.


Assuntos
Dieta Cetogênica/métodos , Epilepsia Resistente a Medicamentos/sangue , Epilepsia Resistente a Medicamentos/dietoterapia , Interleucina-17/sangue , Linfócitos T Reguladores , Células Th17 , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Resultado do Tratamento
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