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1.
Front Neurosci ; 17: 1224479, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38027496

RESUMO

Introduction: Auditory change detection is a pre-attentive cortical auditory processing ability. Many neurological and psychological disorders can lead to defects in this process. Some studies have shown that phase synchronization may be related to auditory discrimination. However, the specific contributions of phase synchronization at different frequencies remain unclear. Methods: We analyzed the electroencephalogram (EEG) data of 29 healthy adults using an oddball paradigm consisting of a standard stimulus and five deviant stimuli with varying frequency modulation patterns, including midpoint frequency transitions and linear frequency modulation. We then compared the peak amplitude and latency of inter-trial phase coherence (ITC) at the theta(θ), alpha(α), and beta(ß) frequencies, as well as the N1 component, and their relationships with stimulus changes. At the same time, the characteristics of inter-trial phase coherence in response to the pure tone stimulation and chirp sound with a fine time-frequency structure were also assessed. Result: When the stimulus frequency did not change relative to the standard stimulus, the peak latency of phase coherence at ß and α frequencies was consistent with that of the N1 component. The inter-trial phase coherence at ß frequency (ß-ITC)served as a faster indicator for detecting frequency transition when the stimulus frequency was changed relative to the standard stimulus. ß-ITC demonstrates temporal stability when detecting pure sinusoidal tones and their frequency changes, and is less susceptible to interference from other neural activities. The phase coherence at θ frequency could integrate the frequency and temporal characteristics of deviant into a single representation, which can be compared with the memory trace formed by the standard stimulus, thus effectively identifying auditory changes. Pure sinusoidal tone stimulation could induce higher inter-trial phase coherence in a smaller time window, but chirp sounds with a fine time-frequency structure required longer latencies to achieve phase coherence. Conclusion: Phase coherence at theta, alpha, and beta frequencies are all involved in auditory change detection, but play different roles in this automatic process. Complex time-frequency modulated stimuli require longer processing time for effective change detection.

2.
World J Clin Cases ; 11(25): 5962-5969, 2023 Sep 06.
Artigo em Inglês | MEDLINE | ID: mdl-37727480

RESUMO

BACKGROUND: Variants in the MYO7A gene commonly result in Usher syndrome, and in rare cases lead to autosomal dominant non-syndromic deafness (DFNA11). Currently, only nine variants have been reported to be responsible for DFNA11 and their clinical phenotypes are not identical. Here we present a novel variant causing DFNA11 identified in a three-generation Chinese family. CASE SUMMARY: The proband was a 53-year-old Han male who presented with post-lingual bilateral symmetrical moderate sensorineural hearing loss. We learned from the patient's medical history collection that multiple family members also had similar hearing loss, generally occurring around the age of 40. Subsequent investigation by high-throughput sequencing identified a novel MYO7A variant. To provide evidence supporting that this variant is responsible for the hearing loss in the studied family, we performed Sanger sequencing on 11 family members and found that the variant co-segregated with the deafness phenotype. In addition, the clinical manifestation of the 11 affected family members was found to be late-onset bilateral slowly progressive hearing loss, inherited in this family in an autosomal dominant manner. None of the affected family members had visual impairment or vestibular symptoms; therefore, we believe that this novel MYO7A variant is responsible for the rare DFNA11 in this family. CONCLUSION: We report a novel variant leading to DFNA11 which further enriches the collection of MYO7A variants, and our review of the nine previous variants that have been identified to cause DFNA11 provides a reference for clinical genetic counseling.

3.
Artigo em Chinês | MEDLINE | ID: mdl-36987958

RESUMO

Objective:To investigate the compliance of patients with allergic rhinitis(AR) receiving sublingual immunotherapy and its influencing factors. Methods:The clinical data of 291 AR patients who received sublingual immunotherapy for dust mites at the First Hospital of Peking University from January 2016 to January 2018 were retrospectively analyzed, and their outpatient or telephone follow-up was conducted. For patients whose treatment time was less than 2 years, the time and reason for the loss were recorded, and the factors affecting their compliance were discussed from the aspects of gender, age, and education. Results:Among the 291 patients, 245 cases(84.2%) were successfully followed up, and 193 cases(78.8%) fell off midway(treatment time<2 years). The overall compliance rate was 21.22%(52/245). The compliance rate of children is higher than that of adults(χ²=21.306, P<0.05), and gender and education level have no significant effect on the compliance rate. The time period for the largest number of shedding was 6-<12 months after treatment(68 cases, 27.8%). The main cause of shedding was symptom relief, which was considered cured(16.7%). Secondly, within 3 months after treatment, a total of 61 patients(24.9%) fell off, of which 34 cases(13.9%) fell off because of troublesome medication, often missed medication, and simply stopped taking the drug. Statistics on the overall reasons for shedding in 193 patients, the top three shedding reasons were: cured after symptom relief(59 cases, 30.6%), troublesome medication, discontinuation after missed dose(44 cases, 22.8%), slow onset or ineffectiveness(26 cases, 13.5%). Conclusion:The overall compliance of sublingual immunotherapy in patients with allergic rhinitis is poor, and the compliance of children is better than that of adults. Clinicians should focus on the reasons for patients to fall off at various times, strengthen patient education, enhance patient confidence in treatment, and improve the compliance of patients.


Assuntos
Rinite Alérgica , Imunoterapia Sublingual , Adulto , Criança , Animais , Humanos , Estudos Retrospectivos , Resultado do Tratamento , Rinite Alérgica/tratamento farmacológico , Dessensibilização Imunológica , Pyroglyphidae , Imunoterapia , Antígenos de Dermatophagoides/uso terapêutico
4.
Artigo em Chinês | MEDLINE | ID: mdl-36217662

RESUMO

KBG syndrome is an uncommon autosomal dominant inheritance disease involving multiple systems caused by mutations of ANKRD11 gene. The patient, who has a series of symptoms including hearing loss, short stature, macrodontia of upper central incisors and mental retardation, was diagnosed with KBG syndrome. Pure tone audiometry showed bilateral conductive hearing loss, the temporal bone CT suggested there were deformed ossicular chain in bilateral middle ears, and X-ray showed bone age was only five years old or so, what is the most important is that genetic testing prompted a de novo mutation of ANKRD11. The aim of this article was to briefly analyze the audiological phenotypic characteristics of KBG syndrome and hope to improve the clinical attention to this disease.


Assuntos
Anormalidades Múltiplas , Doenças do Desenvolvimento Ósseo , Deficiência Intelectual , Anormalidades Dentárias , Anormalidades Múltiplas/genética , Doenças do Desenvolvimento Ósseo/diagnóstico , Doenças do Desenvolvimento Ósseo/genética , Fácies , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Fenótipo , Proteínas Repressoras/genética , Anormalidades Dentárias/diagnóstico , Anormalidades Dentárias/genética
5.
Transl Pediatr ; 10(4): 921-928, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-34012841

RESUMO

BACKGROUND: Refractory pneumonia is a special type of pneumonia in children. This study aimed to analyze the effect of bronchoalveolar lavage (BAL) on the clinical efficacy, inflammatory factors, and immune function in the treatment of pediatric refractory pneumonia. METHODS: A total of 196 children with refractory pneumonia admitted to our hospital from January 2017 to January 2020 were enrolled and allocated to a study group (n=99) and a control group (n=97). The study group was treated with BAL treatment plus conventional treatment, and the control group was treated with conventional treatment. The clinical efficacy, time of fever regression, time of cough relief, and length of hospital stay were compared between groups. Changes in inflammatory factors, immune function, pulmonary ventilation function, and complications were analyzed. The levels of inflammatory factors in BAL fluid were compared. RESULTS: The times of fever remission, cough relief, and hospital stay of the study group was shorter than those of the control group, and the total clinical effective rate of the study group was higher. At any time after treatment, the levels of interleukin-6 (IL-6), C-reactive protein (CRP), and tumor necrosis factor-alpha (TNF-α) in the study group were lower than the control group. After 3-day of treatment, IL-6, CRP and TNF-α in BAL fluid in the study group were significantly decreased compared with before treatment. Immunoglobulin A (IgA) and immunoglobulin G (IgG) levels in the study group were higher than those in the control group at any time after treatment, and immunoglobulin M (IgM) levels were lower than in the control group. The levels of oxygenation index (OI), lung dynamic compliance (Cdyn), and work of breathing (WOB) in the study group were higher than those in the control group at any time after treatment. CONCLUSIONS: BAL treatment can effectively relieve the inflammatory response, improve immune function and lung ventilation function in children with refractory pneumonia. The clinical effect is remarkable and worthy of promotion.

6.
J Colloid Interface Sci ; 590: 571-579, 2021 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-33581660

RESUMO

Layered double hydroxides (LDHs) has been regarded as one of the most potential photocatalysts for degradation of the pollutants, due to the tunable elements in the laminates, high surface area and exposed active sites. Developing a photocatalyst with a visible light activity and fast charge separation efficiency is a main research focus. In this work, a central-collapsed CoFeAl-LDHs was formed via the selective etching Al3+ in the laminates, which relied on the function of OH- produced by urea hydrolysis. The Central-collapsed structure of CoFeAl-LDHs exhibited enhanced adsorption activity and photocatalytic efficiency. The results show that the pseudo-second-order kinetic model and the Langmuir model are suitable for adsorption behavior. This etching cavity is beneficial to the adsorption of MB and provides a better platform for the direct interaction between MB and CoFeAl-LDHs. The morphology and photoelectrochemical properties of the central-collapsed structure of LDHs were characterized and used to explore the relationship between the etching degree and photocatalytic activity. The photocatalytic properties of all the samples under visible light irradiation were evaluated, and LDH-6 has the best photocatalytic activity. This work provides a novel approach for the fabrication of central-collapsed structure of layered double hydroxides photocatalysts to meet environmental and energy requirements.

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