Whitneysnow4566

CONCLUSION Overall, there was a lack of standardized criteria for the evaluation of acoustic and aerodynamic characteristics in the Down syndrome population. Acoustically, there was no significant difference between children with DS and typically developing children. However, aerodynamic studies suggest that there is a significant impairment of glottal valving in children with Down syndrome. OBJECTIVES To determine the genetic cause of non-syndromic autosomal dominant deafness segregating in a Chinese Auditory neuropathy (AN) family. INTRODUCTION AN is a genetically related rare disease characterized by sensorineural hearing loss and retention of hair cell function. Diaphanous Homolog 1 (DIAPH1) is the causative gene of DFNA1. To date, no evidence has been detected to reveal the connection between gene DIAPH1 and AN. MATERIAL AND METHODS Audiological and imageological examinations, genome-wide linkage analysis, and whole exome sequencing (WES) were carried out on the family members. RESULTS In the 13-member branch of the family, 4 patients with preserved otoacoustic emission or cochlear microphonic and abnormal auditory brainstem responses were diagnosed with AN. Linkage analysis detected an interval with a LOD (log odds) score >4 on chr5138.845-149.509 cM. Using WES we identified a novel frameshift variant c.3551_3552del (p.Glu1184AlafsTer11) in exon 26 of DIAPH1 located in the linkage region. The variant was co-segregated with hearing impairment phenotype in the family except 4 members below the average age of onset. We have found sufficient evidence conforming with the American College of Medical Genetics and Genomics Guideline to consider c.3551_3552del as the genetic cause of the family patients. CONCLUSION It is the first report to expand DIAPH1-related phenotypic spectrum to include AN. Our findings could facilitate the clinical diagnosis and genetic counselling for AN, especially for those with DIAPH1 variants. Distal axons, remote from their cell bodies and nuclei, must survive the lifetime of an organism. Recent studies have provided compelling evidence that proteins are locally synthesized in healthy, mature central nervous system axons and presynaptic terminals in vivo. Presynaptic, mitochondrial and ribosomal proteins are locally synthesized in most adult axons of diverse cell types, linking local translation to axon function and survival. Accordingly, inhibiting the intra-axonal translation of key mRNAs or the function of their translational regulators causes dying-back axon degeneration, and human mutations in RNA metabolic pathways are increasingly being associated with neurodegenerative diseases that accompany axon degeneration. Here, we summarize recent relevant findings in a highly simplified 'RNA operon'-based model and discuss open questions and future directions. BACKGROUND Polymorphonuclear neutrophils (PMN) are the largest leukocyte population in the blood of most mammals including horses, and play an important defensive role in many infectious diseases. However, the mechanisms that increase PMN as one of the main cellular subsets in the defense against pathogens could also be involved in the pathophysiology of dysregulated inflammatory conditions. Mesenchymal stem/stromal cells (MSCs) are a heterogeneous population with a modulatory potential on the inflammatory response and are known to interact with nearly all cells of the immune system, including PMN. In this study, the in vitro modulation of equine bone marrow-derived MSCs on equine PMN phagocytosis, ROS production, and NETs generation was assessed. RESULTS In co-culture with MSCs, unstimulated PMN produce less ROS (2.88 % ± 1.43) than PMN in single culture (5.89 % ± 2.63) (p = 0.016). Moreover, PMN co-cultured with MSCs remain conditioned to produce fewer ROS after PMA stimulation in comparison to PMN in single culture (p  less then  0.05). Additionally, it was found that incubation with MSC supernatant strongly inhibited ROS production (83 % ± 6.35 less than control) without affecting phagocytosis or capacity for NETosis (p  less then  0.01). CONCLUSIONS These results suggest a modulatory effect of equine BM-derived MSCs on PMN respiratory burst, without impairing other important microbicidal functions. This supports the potential use of equine MSCs in excessive or persistent inflammatory conditions in which neutrophils are the main effector cells. V.AIMS The present study aimed to investigate the relationship between impulsivity-related personality traits based on the UPPS-P model and e-cigarette use. The study used a sample of mainly European adults and compared e-cigarette users with non-smokers, cigarette smokers and dual users (those who currently smoke cigarettes and use e-cigarettes). Additionally, the relationship between impulsivity-related traits and frequency and intensity of e-cigarette use was examined, while the main reasons for e-cigarette use were also assessed. METHODS Participants were 720 adults (234 non-smokers, 164 smokers, 150 e-cigarette users, 172 dual users), who completed online questionnaires regarding sociodemographics, smoking/e-cigarette use behaviour, and impulsivity (UPPS-P scale). RESULTS Impulsivity-related traits did not significantly differentiate e-cigarette users from non-smokers. E-cigarette users showed lower levels of lack of perseverance than cigarette smokers, and they exhibited lower levels of negative and positive urgency than dual users. Negative urgency also significantly differentiated smokers and non-smokers, with smokers having higher levels of the trait. No significant results were found examining the relationship between the impulsivity-related traits and e-cigarette behaviour (number of days vaping per month, number of times vaping per day, and millilitres of e-liquid used per day). The main reason given for e-cigarette use was the perception that it is less harmful than cigarettes. read more CONCLUSION The present study found that trait impulsivity differentiated e-cigarette users from cigarette smokers and dual users, but did not differentiate e-cigarette users from non-smokers. Such findings are important to not only help us identify factors associated with e-cigarette use, but also to potentially inform treatment plans and decisions.