RESUMEN
OBJECTIVES: Obstructive sleep apnea (OSA) is a common disorder influenced by genetic and environmental factors. Mutations of AT-hook DNA-binding motif containing 1 (AHDC1) gene have been implicated which could cause rare syndromes presenting OSA. This study aims to investigate some rare mutations of AHDC1 in Chinese Han individuals with OSA. PATIENTS AND METHODS: Three hundred and seventy-five patients with OSA and one hundred and nine control individuals underwent polysomnography. A targeted sequencing experiment was taken in 100 patients with moderate-to-severe OSA, and genotyping was taken in 157 moderate-to-severe OSA and 100 control individuals. The effect of mutations was validated by the luciferase reporter assay. RESULTS: One rare missense mutation (AHDC1: p.G1484D) and two mutations (c.-88C>T; c.-781C>G) in 5'-untranslated region (UTR) of AHDC1 were identified. The rare mutation (c.-781C>G) in 5'-UTR that was identified in several patients presenting more severe clinical manifestations affects expression of AHDC1. Conclusions. Our results revealed three rare mutations of AHDC1 in patients with OSA in Chinese Hanindividuals.
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Proteínas de Unión al ADN/genética , Mutación/genética , Apnea Obstructiva del Sueño/genética , Pueblo Asiatico/genética , Femenino , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Polisomnografía/métodosRESUMEN
Objective:To determine whether ginkgo biloba extract(GBE)combined with dexamethasone(DEX)plays a role in the treatment of allergic rhinitis-related olfactory dysfunction using an animal model.Method:Six week old BALB/C mice were sensitized and challenged with ovalbumin.30 sensitized mice were divided into three groups:Group 1 was given high-dose GBE and DEX(n=10);Group 2 was given low dose GBE and DEX(n=10);Group 3 was given DEX alone(n=10).We assessed the histology of the olfactory mucosa and serum IL-4,IFN-γ,and caspase 1.Result:A significant higher fraction of mice in group 1 could find the food pellet within300 scompared to group 3(P<0.05).Caspase-1 levels improved during the second week compared with the first week in each group.IFN-γlevels were significantly lower during the second week compared with the first week(P<0.05,all).IL-4 levels also were significantly lower during the second week compared with the first week in all groups except those receiving DEX alone.IFN-γ/IL-4 levels in each group were significantly lower during the second week compared with the first week(P<0.05,all).Conclusion:In this animal model of allergic rhinitis-related olfactory dysfunction,the addition of ginkgo biloba extract to dexamethasone have a better anti-inflammatory effect,which can partly improve the therapeutic effect on olfactory dysfunction caused by allergic rhinitis.
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Glucocorticoides/farmacología , Extractos Vegetales/farmacología , Rinitis Alérgica/tratamiento farmacológico , Animales , Citocinas/metabolismo , Modelos Animales de Enfermedad , Ginkgo biloba , Glucocorticoides/administración & dosificación , Ratones , Ratones Endogámicos BALB C , Extractos Vegetales/administración & dosificación , Rinitis Alérgica/inmunologíaRESUMEN
OBJECTIVE: To explore the feasibility of directionally inducing human adipose-derived mesenchymal stem cells (hAD-MSCs) towards inner ear hair cells. METHODS: Mesenchymal stem cells from human adipose tissue were isolated, purified and cultured in vitro. hAD-MSCs were induced to neural stem/progenitor-like cell, and then co-cultured with embryonic chick otic vesicle cells. Processed hAD-MSCs were tested by immunostaining to ascertain whether they expressed characteristic hair cell markers. RESULTS: Morphologically, hAD-MSCs were induced to differentiate into neural stem/progenitor cells and expressed specific neural markers. After being co-cultured with embryonic chick otic vesicle cells, hAD-MSCs expressed specific surface markers of inner ear hair cells. CONCLUSIONS: hAD-MSCs can be directionally induced to differentiate towards hair cell-like cells in vitro.
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Técnicas de Cultivo de Célula/métodos , Diferenciación Celular , Células Ciliadas Auditivas Internas/citología , Células Madre Mesenquimatosas/citología , Tejido Adiposo/citología , Animales , Células Cultivadas , Embrión de Pollo , Técnicas de Cocultivo , HumanosRESUMEN
OBJECTIVE: To explore the health-related quality of life (QOL) status of patients with chronic rhinosinusitis. METHODS: Sixty four patients with chronic rhinosinusitis and twenty healthy volunteers were enrolled, and their QOL scores were assessed by using SF-36 questionnaire (Chinese version) and SNOT-22 questionnaire translated into Chinese. RESULTS: The feasibility, reliability, validity, and responsibility of Chinese version of SNOT-22 questionnaire all passed the test. It showed that by Chinese version of SNOT-22 questionnaire the most five important items affecting health status were nasal obstruction, runny nose, loss of smell or taste, dizziness and post-nasal discharge respectively. The coefficient of correlation was 0. 233 between the SNOT-22 questionnaire and the Lund-MacKay CT score of patients with chronic rhinosinusitis. CONCLUSIONS: Chinese version of SNOT-22 questionnaire can effectively assess the QOL status of patients with chronic rhinosinusitis. It showed less correlation between the SNOT-22 questionnaire and the Lund-MacKay CT score of patients with chronic rhinosinusitis.