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1.
BMC Pediatr ; 24(1): 96, 2024 Feb 03.
Artigo em Inglês | MEDLINE | ID: mdl-38310242

RESUMO

BACKGROUND: NARS2 as a member of aminoacyl-tRNA synthetases was necessary to covalently join a specific tRNA to its cognate amino acid. Biallelic variants in NARS2 were reported with disorders such as Leigh syndrome, deafness, epilepsy, and severe myopathy. CASE PRESENTATION: Detailed clinical phenotypes were collected and the NARS2 variants were discovered by whole exome sequencing and verified by Sanger sequencing. Additionally, 3D protein structure visualization was performed by UCSF Chimera. The proband in our study had early-onset status epilepticus with abnormal EEG and MRI results. She also performed global developmental delay (GDD) and myocardial dysfunction. Next-generation sequencing (NGS) and Sanger sequencing revealed compound heterozygous missense variants [NM_024678.6:exon14: c.1352G > A(p.Arg451His); c.707T > C(p.Phe236Ser)] of the NARS2 gene. The proband develops refractory epilepsy with GDD and hyperlactatemia. Unfortunately, she finally died for status seizures two months later. CONCLUSION: We discovered two novel missense variants of NARS2 in a patient with early-onset status epilepticus and myocardial dysfunction. The NGS enables the patient to be clearly diagnosed as combined oxidative phosphorylation deficiency 24 (COXPD24, OMIM:616,239), and our findings expands the spectrum of gene variants in COXPD24.


Assuntos
Aspartato-tRNA Ligase , Epilepsia Resistente a Medicamentos , Epilepsia , Estado Epiléptico , Feminino , Humanos , Estado Epiléptico/diagnóstico , Estado Epiléptico/genética , Epilepsia Resistente a Medicamentos/genética , Mutação de Sentido Incorreto , RNA de Transferência , Mutação , Aspartato-tRNA Ligase/genética
2.
J Psychiatr Res ; 172: 210-220, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38402843

RESUMO

This study investigates the influence of N-methyl-D-aspartate receptor (NMDAR) antagonists on the mismatch negativity (MMN) components of event-related potentials (ERPs) in healthy subjects and explores whether NMDAR antagonists have different effects on MMN components under different types of antagonists, drug dosages, and deviant stimuli. We conducted a comprehensive literature search of PubMed, EMBASE, and the Cochrane Library from inception to August 1, 2023 for studies comparing the MMN components between the NMDAR antagonist intervention group and the control group (or baseline). All statistical analyses were performed using Stata version 12.0 software. Sixteen articles were included in the systematic review: 13 articles were included in the meta-analysis of MMN amplitudes, and seven articles were included in the meta-analysis of MMN latencies. The pooled analysis showed that NMDAR antagonists reduced MMN amplitudes [SMD (95% CI) = 0.32 (0.16, 0.47), P < 0.01, I2 = 47.3%, p < 0.01] and prolonged MMN latencies [SMD (95% CI) = 0.31 (0.13, 0.49), P = 0.16, I2 = 28.3%, p < 0.01]. The type of antagonist drug regulates the effect of NMDAR antagonists on MMN amplitudes. Different antagonists, doses of antagonists, and types of deviant stimuli can also have different effects on MMN. These findings indicate a correlation between NMDAR and MMN, which may provide a foundation for the application of ERP-MMN in the early identification of NMDAR encephalitis.


Assuntos
Potenciais Evocados Auditivos , Receptores de N-Metil-D-Aspartato , Humanos , Potenciais Evocados Auditivos/fisiologia , Eletroencefalografia , Potenciais Evocados , Estimulação Acústica
4.
Front Neurol ; 14: 1236046, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37712083

RESUMO

Background: No interventional study has been conducted in China to assess efficacy and safety of perampanel in treating Chinese patients with epilepsy, nor has there been any study on perampanel early add-on therapy in China. This interventional study aimed to assess efficacy and safety of perampanel as an early add-on treatment of focal-onset seizures (FOS) with or without focal-to-bilateral tonic-clonic seizures (FBTCS) in Chinese patients. Methods: In this multicenter, open-label, single-arm, phase 4 interventional study, Chinese patients ≥ 12 years old with FOS with or without FBTCS who failed anti-seizure medication (ASM) monotherapy from 15 hospitals in China were enrolled and treated with perampanel add-on therapy (8-week titration followed by 24-week maintenance). The primary endpoint was 50% responder rate. Secondary endpoints included seizure-freedom rate and changes in seizure frequency from baseline. Treatment-emergent adverse events (TEAEs) and drug-related TEAEs were recorded. Results: The full analysis set included 150 patients. The mean maintenance perampanel dose was 5.9 ± 1.5 mg/day and the 8-month retention rate was 72%. The 50% responder rate and seizure-freedom rate for all patients during maintenance were 67.9 and 30.5%, respectively. Patients with FBTCS had higher 50% responder rate (96.0%) and seizure-freedom rate (76.0%) during maintenance. Patients on concomitant sodium valproate had a significantly higher seizure-freedom rate than those on concomitant oxcarbazepine. Eight-six (55.1%) patients experienced treatment-related TEAEs, and the most common TEAEs were dizziness (36.5%), hypersomnia (11.5%), headache (3.9%), somnolence (3.2%), and irritability (3.2%). Withdrawal due to TEAEs occurred to 14.7% of the patients. Conclusion: Perampanel early add-on was effective and safe in treating Chinese patients≥12 years old with FOS with or without FBTCS.Clinical trial registrationwww.chictr.org.cn, Identifier ChiCTR2000039510.

5.
Front Neurol ; 14: 1237255, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37588668

RESUMO

The ketogenic diet (KD) has shown excellent performance in the treatment of refractory epilepsy, but how it works is not yet fully understood. Gut microbiota is associated with various neurological disorders through the brain-gut axis. Different dietary patterns have different effects on the composition and function of gut microbiota. Here, by analyzing fecal samples from some patients with mitochondrial epilepsy before and after KD treatment through 16SrRNA sequencing, we found that KD intervention reduced the abundance of Firmicutes in the patient's gut, while the abundance of Bacteroidota increased in the KD group. LefSe analysis showed that Actinobacteriota, Phascolarctobacterium had significant advantages in the control group, while Bacteroides increased significantly after KD intervention, especially Bacteroides fragilis. Functional analysis showed that there were significant differences in 12 pathways in level 3. These changes suggest that KD can change the composition and diversity of the gut microbiota in patients and affect their function. Changes in specific bacterial groups in the gut may serve as biomarkers for the therapeutic effects of KD on epilepsy.

6.
BMC Med Genomics ; 16(1): 181, 2023 08 03.
Artigo em Inglês | MEDLINE | ID: mdl-37537631

RESUMO

BACKGROUND: Pathogenic variation of the MECP2 gene presents mostly as Rett syndrome in females and is extremely rare in males. Most male patients with MECP2 gene mutation show MECP2 duplication syndrome. CASE PRESENTATION: Here we report a rare case in a 10-month-old boy with a hemizygous insertion mutation in MECP2 as NM_001110792, c.799_c.800insAGGAAGC, which results in a frameshift mutation (p.R267fs*6). The patient presented with severe encephalopathy in the neonatal period, accompanied by severe development backwardness, hypotonia, and ocular and oropharyngeal dyskinesia. This is the first report of this mutation, which highlights the phenotype variability associated with MECP2 variants. CONCLUSIONS: This case helps to expand the clinical spectrum associated with MECP2 variants. Close attention should be paid to the growth and development of patients carrying a MECP2 variant or Xq28 duplication. Early interventions may help improve symptoms to some certain extent.


Assuntos
Encefalopatias , Discinesias , Retardo Mental Ligado ao Cromossomo X , Síndrome de Rett , Humanos , Masculino , Encefalopatias/genética , Discinesias/genética , Retardo Mental Ligado ao Cromossomo X/genética , Proteína 2 de Ligação a Metil-CpG/genética , Mutagênese Insercional , Mutação , Fenótipo , Síndrome de Rett/genética , Síndrome de Rett/diagnóstico , Síndrome de Rett/patologia
7.
Epilepsy Behav ; 146: 109362, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37499582

RESUMO

OBJECTIVE: To explore relevant factors for the severity of obsessive-compulsive symptoms (OCSs) in adult epileptic patients and investigate whether the severity of OCSs is a mediator in the relationship between depressive/anxiety symptoms and suicide risk in epileptic patients. METHODS: This was a cross-sectional study from a hospital in Northeast China. Yale-Brown Obsessive Compulsive Scale (Y-BOCS), Neurological Disorders Depression Inventory for Epilepsy (NDDIE), Generalized Anxiety Disorder (GAD-7), and Nurses' Global Assessment of Suicide Risk (NGASR) were used to assess the severity of OCSs, depressive symptoms, anxiety symptoms, and suicide risk in epileptic patients, respectively. The independent factors of the severity of OCSs and their mediating effects in the relationship between depressive/anxiety symptoms and suicide risk were evaluated by regression analyses and mediator models, respectively. RESULTS: NDDIE scores (ß = 0.404, p < 0.001), GAD-7 scores (ß = 0.247, p = 0.009), and polytherapy (ß = 0.119, p = 0.032) were the independent factors of Y-BOCS scores. The Y-BOCS scores partially mediated the relationship between GAD-7 scores and NGASR scores (standardized coefficients of indirect effect = 0.109, Bootstrap 95% CI = 0.024 to 0.214). Still, they did not mediate the relationship between NDDIE scores and NGASR scores (standardized coefficients of indirect effect = 0.062, Bootstrap 95% CI = -0.024 to 0.169). CONCLUSIONS: Depressive symptoms, anxiety symptoms, and polytherapy are independently associated with the severity of OCSs in epileptic patients. Depressive and anxiety symptoms mediate the effect of the severity of OCSs on suicide risk in epileptic patients completely.


Assuntos
Epilepsia , Transtorno Obsessivo-Compulsivo , Suicídio , Adulto , Humanos , Transtorno Obsessivo-Compulsivo/complicações , Estudos Transversais , Epilepsia/complicações , Ansiedade
8.
Int J Oncol ; 63(1)2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-37264959

RESUMO

Long noncoding RNAs (lncRNAs) are a type of regulatory molecule with potential roles in the development of several different malignancies. However, the underlying mechanisms of lncRNAs in colorectal cancer (CRC) are incompletely understood. The present study investigated the molecular mechanism of LINC02038 in CRC. LINC02038 expression was decreased in CRC tissues compared to the para­cancerous tissues and LINC02038 overexpression markedly reduced the proliferation, vitality, migration and invasive ability and greatly accelerated apoptosis of colorectal cancer cells. Bioinformatics examination indicated that LINC02038 may have targeted microRNA (miR)­552­5p. RNA immunoprecipitation and luciferase reporter assays showed that LINC02038 served as a sponge for miR­552­5p, hindering target gene FAM172A of miR­552­5p degradation. Moreover, methylated RNA immunoprecipitation (MeRIP)­qualitative PCR assays revealed that YTHDF2 could identify and regulate the METTL3­mediated LINC02038 N6­methyladenosine (m6A) modification and increase its degradation, thereby promoting CRC progression via the PI3K/AKT pathway. Based on the CRC clinical specimens, it was shown that LINC02038 was negatively associated with lymphatic metastasis and distant metastasis. These results revealed that m6A/LINC02038/miR­552­5p/FAM172A may be a novel anti­tumor axis and LINC02038 may serve as a biomarker and treatment option for colorectal cancer.


Assuntos
Neoplasias Colorretais , MicroRNAs , RNA Longo não Codificante , Humanos , Proteínas Proto-Oncogênicas c-akt/genética , Proteínas Proto-Oncogênicas c-akt/metabolismo , MicroRNAs/genética , MicroRNAs/metabolismo , Fosfatidilinositol 3-Quinases/genética , Fosfatidilinositol 3-Quinases/metabolismo , Linhagem Celular Tumoral , Ligação Competitiva , RNA Longo não Codificante/genética , RNA Longo não Codificante/metabolismo , Neoplasias Colorretais/patologia , Proliferação de Células/genética , Regulação Neoplásica da Expressão Gênica , Movimento Celular/genética , Metiltransferases/metabolismo , Proteínas/genética
9.
Front Microbiol ; 14: 1144851, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37168108

RESUMO

Previous research has suggested a link between gut microbiota and attention deficit hyperactivity disorder (ADHD), but their causal relationship has not been elucidated. Aiming to comprehensively investigate their causal relationship and to identify specific causal microbe taxa for ADHD, we conducted a two-sample Mendelian randomization (MR) analysis. Instrumental variables of 211 gut microbiota taxa were obtained from gene wide association study (GWAS), and Mendelian randomization study was carried out to estimate their effects on ADHD risk from PGC GWAS (20,183 ADHD cases and 35,191 controls) and FinnGen GWAS (830 ADHD cases and 215,763 controls). Wald ratio (WR), inverse variance weighted (IVW), MR-Egger, and weighted median were the main methods to analyze causality, and MR results are verified by several sensitivity analysis analyses. At locus-wide significance level (p < 1 × 10-5), IVW results confirmed that genus Eubacteriumhalliigroup (p = 0.013) and genus RuminococcaceaeUCG013 (p = 0.049) were correlated with the risk of ADHD and genus Butyricicoccus (p = 0.009), genus Roseburia (p = 0.009), genus Desulfovibrio (p = 0.015), genus LachnospiraceaeNC2004group (p = 0.026), genus Romboutsia (p = 0.028) and family Oxalobacteraceae (p = 0.048) were protective factors of ADHD. Weighted median results indicated that genus Butyricicoccus (p = 0.018) was negatively correlated with the risk of ADHD. At genome-wide statistical significance level (p < 5 × 10-8), Wald ratio results demonstrated that genus Ruminococcustorquesgroup (p = 0.003) was a risk factor for ADHD, while genus Romboutsia (p = 0.006) and family Peptostreptococcaceae (p = 0.006) had a negative correlation with the risk of ADHD. In reverse MR analysis, IVW results showed that ADHD may lead to an increase in the abundance of genus Roseburia (p = 0.020). Analysis of heterogeneity (p > 0.05) and pleiotropy (p > 0.05) confirmed the robustness of MR results. We demonstrated that there was a potential causal relationship between gut microbiota and ADHD. Our research provides a foundation for understanding the causal relationship between gut microbiota and ADHD, and the several gut bacteria found in this study that may reduce the occurrence of ADHD may have potential in the prevention and treatment of ADHD.

10.
Open Life Sci ; 18(1): 20220595, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37070078

RESUMO

The cytoskeleton plays an important role in epilepsy; however, the mechanism is unknown. Therefore, this study aimed to reveal the mechanism of cytoskeletal proteins in epilepsy by investigating the expression of cytoskeletal proteins and synaptophysin (SYP) in mice at 0, 3, 6, and 24 h, 3 days, and 7 days in a kainic acid (KA)-induced epileptic model. Our results demonstrated that the expression of F-actin decreased significantly between 3 and 6 h, 6 and 24 h, and 24 h and 3 days (P < 0.05). Meanwhile, the expression of the neurofilament light chain, neurofilament medium chain, and neurofilament heavy chain subunits was significantly decreased (P < 0.001) at 3 h after the KA injection compared to the KA 0 h group, followed by an elevation at 6 h and a further decrease at 24 h compared to at 6 h. SYP expression was significantly decreased between 0 and 3 h as well as between 3 and 6 h (P < 0.05). At 24 h, the level was increased compared to at 6 h and continued to increase at 3 days after the KA injection. Thus, we propose that cytoskeletal proteins may be involved in the pathogenesis of epilepsy.

11.
Cell Death Dis ; 14(4): 295, 2023 04 29.
Artigo em Inglês | MEDLINE | ID: mdl-37120688

RESUMO

Pancreatic cancer (PC) is among the most aggressive malignancies associated with a 5-year survival rate of <9%, and the treatment options remain limited. Antibody-drug conjugates (ADCs) are a new class of anticancer agents with superior efficacy and safety profiles. We studied the antitumor activity of Oba01 ADC and the mechanism underlying the targeting of death receptor 5 (DR5) in preclinical PC models. Our data revealed that DR5 was highly expressed on the plasma membrane of PC cells and Oba01 showed potent in vitro antitumor activity in a panel of human DR5-positive PC cell lines. DR5 was readily cleaved by lysosomal proteases after receptor-mediated internalization. Monomethyl auristatin E (MMAE) was then released into the cytosol to induce G2/M-phase growth arrest, cell death via apoptosis induction, and the bystander effect. Furthermore, Oba01 mediated cell death via antibody-dependent cell-mediated cytotoxicity and complement-dependent cytotoxicity. For improved potency, we investigated the synergetic effect of Oba01 in combination with approved drugs. Oba01 combined with gemcitabine showed better antiproliferative activity than either standalone treatment. In cell- and patient-derived xenografts, Oba01 showed excellent tumoricidal activity in mono- or combinational therapy. Thus, Oba01 may provide a novel biotherapeutic approach and a scientific basis for clinical trials in DR5-expressing patients with PC.


Assuntos
Antineoplásicos , Neoplasias Pancreáticas , Humanos , Antineoplásicos/farmacologia , Antineoplásicos/uso terapêutico , Linhagem Celular Tumoral , Neoplasias Pancreáticas/tratamento farmacológico , Neoplasias Pancreáticas/patologia , Ensaios Antitumorais Modelo de Xenoenxerto , Animais , Neoplasias Pancreáticas
13.
Front Pediatr ; 11: 994817, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36969295

RESUMO

Objective: The objective of this study was to better understand the clinical features of photosensitive epilepsy (PSE) in Chinese children. Methods: Thirty-one children with PSE were screened out of 398 children with epilepsy who were consecutively diagnosed by the video-electroencephalogram (VEEG) monitoring method and by using an intermittent photic stimulation (IPS) test. Their EEGs and clinical features were retrospectively analyzed, and their treatment outcomes were followed up. Results: PSE accounted for 7.79% (31/398) of children with epilepsy during the observation period in our single epilepsy center. The male to female ratio of PSE was 1:3.43, and the average seizure onset age was 7.8 ± 3.28 years. The highest range of frequency sensitivity of the IPS test for the induction of EEG epileptic discharge or electroclinical seizures was within 10-20 Hz. Electroclinical seizures were induced in 41.94% (13/31) of PSE patients by using the IPS test, while EEG discharge without clinical seizures was induced in 58.06% (18/31) of PSE patients. Among all PSE patients, an IPS-positive reaction in the eye-closure state was induced in 83.87% of patients, and this rate was significantly higher than that in the eye-opened state (41.94%) or eye-closed state (35.48%). (Eye-closure IPS stimulation means: make the subjects close their eyes at the beginning of each stimulation, open their eyes at the end of the stimulation, and close their eyes again at the beginning of the next stimulation, and so on. While Eye-closed IPS stimulation means the stimulation is started after 5 s of eye closure, and the subjects are kept closed throughout the whole process.) The common and effective drugs used for single or combined therapy in PSE children were valproic acid and levetiracetam. Conclusion: This study provides some useful information about electroclinical characteristics in a cohort of 31 PSE children. It may be beneficial for pediatric neurologists in terms of paying more attention to PSE and correctly dealing with it.

14.
Sleep Med ; 103: 89-97, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36773472

RESUMO

OBJECTIVE: To explore the differences in sleep spindle (SS) characteristics during stage N2 sleep between children with childhood absence epilepsy and healthy controls, and between children with childhood absence epilepsy with or without cognitive impairment. METHODS: We recruited 29 children (14 females, 15 males, mean age: 8 (2.5) years) with childhood absence epilepsy who did not undergone antiseizure treatments previously and 30 age-matched controls (14 females, 16 males, mean age: 9 (3.0) years). For all patients, data on medical history were collected. Each child was monitored overnight by long-term video electroencephalography and was evaluated by the Wechsler Intelligence Scale for Children-Fourth Edition. Next, we compared anterior SS characteristics, including density, frequency, cycle length, duration, amplitude, and percentage of sleep stages. RESULTS: The childhood absence epilepsy group exhibited lower spindle density and duration in the first 37.5 min of stage N2 sleep than the control group (P < 0.01). A decrease in spindle density could be observed in the childhood absence epilepsy group with aggravated cognition impairment. The spindle density was substantially lower in the cognitively impaired group than in the cognitively unimpaired group (P < 0.01). No significant differences were observed in SS amplitude, SS frequency, SS cycle length, and the distribution of sleep stages. CONCLUSIONS: Reduction in spindle density and duration is associated with the mechanisms underlying childhood absence epilepsy. The deficit in SS density is related with impaired cognition. This deficiency in SSs may be a useful predictive indicator of cognitive impairment in children with absence epilepsy, indicating that SSs may become a useful biomarker and potential adjuvant anti-seizure target for cognitive impairment caused by childhood absence epilepsy.


Assuntos
Disfunção Cognitiva , Epilepsia Tipo Ausência , Masculino , Feminino , Humanos , Criança , Pré-Escolar , Epilepsia Tipo Ausência/complicações , Sono , Fases do Sono , Disfunção Cognitiva/complicações , Eletroencefalografia
15.
Clin EEG Neurosci ; : 15500594221137050, 2022 Nov 06.
Artigo em Inglês | MEDLINE | ID: mdl-36341690

RESUMO

Objective. To analyze the EEG features of four subacute sclerosing panencephalitis cases in North China. Methods. We retrospectively analyzed the EEG features in four patients with subacute sclerosing panencephalitis and 12 patients in control group from North China. Results. The periodic long-interval diffuse discharges were found in all of the four cases with subacute sclerosing panencephalitis. The morphology and component of periodic complexes were varied in different patients and different wakefulness states. Some EEG parameter settings help to identify periodic long-interval diffuse discharges including the slowed sweep speed, decreased sensitivity and reduced number of montages. In each patient with subacute sclerosing panencephalitis, the periodic long-interval diffuse discharges associated with two types of brief episodes (1:1) during awake period were found and none of the patients in the control group had this EEG pattern. The score system based on the periodic discharges and brief episodes also shows that all the patients with SSPE reached score 5 while none of the patients in the control group has a score greater than 3, which suggests that this EEG pattern may have diagnostic value. Conclusions. In subacute sclerosing panencephalitis, the morphology and component of periodic long-interval diffuse discharges were varied in different patients and different wakefulness states. Specific EEG parameter settings help to identify periodic long-interval diffuse discharges. Periodic long-interval diffuse discharges associated with two types of brief episodes (1:1) during awake period may strongly suggest the diagnosis of subacute sclerosing panencephalitis.

16.
Front Neurol ; 13: 880944, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35979062

RESUMO

Background: The ketogenic diet (KD) is increasingly used to treat drug-resistant epilepsy because of its favorable effect on seizure reduction. Patients with mitochondrial diseases tend to experience seizures. Therefore, this study aimed to test the efficacy of the KD on participants with mitochondrial diseases in a controlled trial. Methods: Participants from fourteen clinical centers who were diagnosed with mitochondrial disease were semi-randomized to either the intervention (KD) or control group. The KD group followed a 3-month KD intervention, while the control group received a 1-month normal diet initially and then a 3-month KD intervention. The primary outcome measure was seizure reduction. Biomarker changes, cognitive impairments, and side effects were also recorded, if available. Result: A total of 33 participants were assigned to the KD (n = 22) and control groups (n = 11). In the KD group, 31.8% (7/22) of participants achieved ≥50% seizure reduction after 1 month of diet intervention, which increased to 40.9% (9/22) at 3 months. In the control group, only 18.2% (2/11) of the participants had ≥50% seizure reduction during the normal diet period. After the control group was transferred to the KD, 63.6% (7/11) of participants had >50% seizure reduction, and this rate increased to 72.7% (8/11) at 3 months. The KD also showed high efficacy in participants with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) or pathogenic variants in mitochondrial DNA (mtDNA) (90% and 93.3% response rates, respectively). The most frequent side effects reported at the 3-month review were vomiting, cold, hyperlipidemia, and bloating. Conclusion: The KD is a safe and effective therapy for seizure control in mitochondrial diseases, especially MELAS and pathogenic variants of mtDNA. KD intervention can be considered in the management of these patients.

17.
J Clin Neurosci ; 102: 87-94, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35753156

RESUMO

INTRODUCTION: Recent studies indicate that Alzheimer's disease- (AD) related biomarkers, including amyloid ß (Aß40 and Aß42) and tau proteins (P-tau and T-tau), in blood and cerebrospinal fluid (CSF) are associated with obstructive sleep apnea (OSA). However, the results have been inconsistent. Therefore, the primary purpose of this meta-analysis was to determine the relationship between blood and CSF AD-related biomarkers and OSA. METHODS: We searched the Embase, PubMed, Scopus, and Cochrane Library databases for relevant articles till February 2022. RESULTS: Eight articles were finally included after the literature screening, including 446 patients with OSA and 286 controls. Pooled analysis showed that CSF Aß42 (SMD = -0.220, P = 0.136), T-tau (SMD = 0.012, P = 0.89), and P-tau (SMD = 0.099, P = 0.274) levels were not different between patients with OSA and controls. In patients with moderate to severe OSA, CSF Aß42 (SMD = -0.482, P = 0.031) were significantly lower than in controls. Blood T-tau (SMD = 0.560, P = 0.026), P-tau (SMD = 0.621, P < 0.001), and Aß40 (SMD = 0.656, P < 0.001) levels were significantly higher in patients with OSA than in controls. Blood Aß42 (SMD = 0.241, P = 0.232) were not different between patients with OSA and controls. CONCLUSION: OSA is associated with changes in AD-related markers. Higher OSA severity may be associated with the development of AD. AD-related biomarkers, especially in the blood, are clinically efficient, less invasively assessed and monitored, and may be useful for detecting OSA and related cognitive impairments. Further studies are needed to confirm these results.


Assuntos
Doença de Alzheimer , Apneia Obstrutiva do Sono , Doença de Alzheimer/sangue , Doença de Alzheimer/líquido cefalorraquidiano , Doença de Alzheimer/diagnóstico , Peptídeos beta-Amiloides/sangue , Peptídeos beta-Amiloides/líquido cefalorraquidiano , Biomarcadores/sangue , Biomarcadores/líquido cefalorraquidiano , Humanos , Fragmentos de Peptídeos/sangue , Fragmentos de Peptídeos/líquido cefalorraquidiano , Apneia Obstrutiva do Sono/sangue , Apneia Obstrutiva do Sono/líquido cefalorraquidiano , Apneia Obstrutiva do Sono/complicações , Proteínas tau/sangue , Proteínas tau/líquido cefalorraquidiano
18.
BMC Musculoskelet Disord ; 23(1): 428, 2022 May 06.
Artigo em Inglês | MEDLINE | ID: mdl-35524245

RESUMO

BACKGROUND: Compared to adults, spinal cord injury without radiographic abnormality (SCIWORA) is more common in children due to the congenital spinal soft tissue elasticity and immature vertebral bodies. In this study, we aimed to investigate the risk factors and prognosis associated with SCIWORA in China. METHOD: We retrospectively examined patient records at the First Hospital of Jilin University from January 2007 to December 2020. Patients diagnosed with SCIWORA were included in the study group (n=16). The age, gender, history of trauma, symptoms, injury level of the spinal cord, the American Spinal Injury Association (ASIA) impairment score according to the International Standards for Neurological Classification of Spinal Cord Injury (ISNCSCI), as well as laboratory and imaging findings were analyzed. RESULT: The study group included 16 patients with SCIWORA with a mean age of 6.69±2.51 y. The ISNCSCI impairment scale was significantly different between the pre-school age patients (≤7 years old) and school age patients (>7 years old) before (P=0.044) and after therapy (P=0.002). Similarly, magnetic resonance imaging demonstrated a significant difference in the spinal injury level between pre-school age and school age patients (P=0.041). Further, the study group was subdivided into three subgroups according to the cause of trauma: Dance, Taekwondo, or Falls. Magnetic resonance imaging revealed significant differences among the three subgroups (P=0.041). CONCLUSION: Compared to school-age patients, pre-school-age patients were more vulnerable to SCIWORA with more severe ISNCSCI scores. Dance and Taekwondo are among the risk factors associated with SCIWORA in Chinese children.


Assuntos
Traumatismos da Medula Espinal , Traumatismos da Coluna Vertebral , Adulto , Criança , Pré-Escolar , Humanos , Imageamento por Ressonância Magnética/métodos , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Traumatismos da Medula Espinal/diagnóstico por imagem , Traumatismos da Medula Espinal/epidemiologia , Traumatismos da Medula Espinal/etiologia
19.
J Child Neurol ; 37(12-14): 922-926, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-35118892

RESUMO

The development of lenticulostriate stroke following mild head trauma accounts for 3% of traumatic brain injuries in children. Nevertheless, the pathogenesis of infantile lenticulostriate stroke with lenticulostriate calcification is poorly understood. In this study, we explored the association of a recent viral infection with the development of infantile lenticulostriate stroke with lenticulostriate calcification following mild head trauma in children. We examined the records for 49 children (<36 months old) diagnosed with infantile stroke following mild head trauma at the First Hospital of Jilin University between January 2007 and August 2019. The demographic characteristics, clinical manifestations, and laboratory and imaging results were collected and analyzed. Antibodies against Epstein-Barr virus, herpes simplex virus, and cytomegalovirus in the patient sera were assessed. A total of 18 patients with lenticulostriate stroke and calcification were included in the Patient group (16.61 ± 10.57 months), and 14 patients without calcification were included in the Control group (13.07 ± 7.66 months). Imaging findings demonstrated the presence of lenticulostriate stroke in all patients. There were no significant differences in the demographic characteristics or clinical manifestations of stroke between both groups (P > .05). Similarly, no significant differences were observed in the Epstein-Barr virus and herpes simplex virus-1 antibody positivity in both groups. In contrast, cytomegalovirus antibody was significantly more abundant in the Patient group (P < .05). All patients were hospitalized for conservative treatment with favorable prognoses. Our results suggest that cytomegalovirus infection may be associated with the development of lenticulostriate strokes in pediatric patients following minor head injury.


Assuntos
Calcinose , Traumatismos Craniocerebrais , Infecções por Citomegalovirus , Infecções por Vírus Epstein-Barr , Acidente Vascular Cerebral , Criança , Humanos , Pré-Escolar , Infecções por Vírus Epstein-Barr/complicações , Herpesvirus Humano 4 , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/diagnóstico por imagem , Traumatismos Craniocerebrais/complicações , Traumatismos Craniocerebrais/diagnóstico por imagem , Infecções por Citomegalovirus/complicações , Infecções por Citomegalovirus/diagnóstico por imagem , Calcinose/complicações
20.
Eur Arch Otorhinolaryngol ; 279(4): 1663-1673, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-34476593

RESUMO

PURPOSE: Although it has been reported that superoxide dismutase (SOD) is related to obstructive sleep apnea (OSA), the results are controversial. In addition, the effects of the continuous positive airway pressure (CPAP) treatment on SOD levels are also inconsistent. The primary purpose of the present meta-analysis is to determine the relationship between the circulating SOD levels and OSA. METHODS: The studies included in this meta-analysis were selected from the PubMed, Embase, Cochrane Library, and Scopus databases. Two researchers independently reviewed the studies. Data analysis was performed using Stata 15.1. The overall effects were measured using the standardized mean difference (SMD) with a 95% confidence interval (CI). A random-effects model or a fixed-effects model was used, depending on the heterogeneity of the studies. RESULTS: A total of 14 studies were included, comprising 1240 patients and 457 controls. The results showed that the circulating SOD levels of the patients with OSA were significantly lower than that of the control group (SMD = - 1.645, 95% CI = - 2.279 to - 1.011, P < 0.001). We also studied changes in the circulating SOD levels in patients with OSA after the CPAP treatment. No significant difference was observed in the circulating SOD levels after the CPAP treatment (SMD = - 0.028, 95% CI = - 0.218 to 0.162, P = 0.772). CONCLUSION: The results suggested that patients with OSA have reduced levels of SOD and were related to disease severity. The results also indicated that circulating SOD levels may be a reliable marker for detecting systemic oxidative stress in patients with OSA. However, the circulating SOD levels were not affected by the short-term (4-12 weeks) CPAP treatment. Therefore, further large-scale, well-designed randomized controlled trials with a longer CPAP therapy (more than 6 months preferably) and good adherence to the treatment are needed to investigate this issue.


Assuntos
Pressão Positiva Contínua nas Vias Aéreas , Apneia Obstrutiva do Sono , Biomarcadores , Pressão Positiva Contínua nas Vias Aéreas/efeitos adversos , Humanos , Imunoterapia , Apneia Obstrutiva do Sono/etiologia , Apneia Obstrutiva do Sono/terapia , Superóxido Dismutase
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