Amacrine cells of the retina are conspicuously variable in their morphologies, their population demographics, and their ensuing functions. Vesicular glutamate transporter 3 (VGluT3) amacrine cells are a recently characterized type of amacrine cell exhibiting local dendritic autonomy. The present analysis has examined three features of this VGluT3 population, including their density, local distribution, and dendritic spread, to discern the extent to which these are interrelated, using male and female mice. We first demonstrate that Bax-mediated cell death transforms the mosaic of VGluT3 cells from a random distribution into a regular mosaic. We subsequently examine the relationship between cell density and mosaic regularity across recombinant inbred strains of mice, finding that, although both traits vary across the strains, they exhibit minimal covariation. Other genetic determinants must therefore contribute independently to final cell number and to mosaic order. Using a conditional KO approach, we further demonstrate that Bax acts via the bipolar cell population, rather than cell-intrinsically, to control VGluT3 cell number. Finally, we consider the relationship between the dendritic arbors of single VGluT3 cells and the distribution of their homotypic neighbors. Dendritic field area was found to be independent of Voronoi domain area, while dendritic coverage of single cells was not conserved, simply increasing with the size of the dendritic field. Bax-KO retinas exhibited a threefold increase in dendritic coverage. Each cell, however, contributed less dendrites at each depth within the plexus, intermingling their processes with those of neighboring cells to approximate a constant volumetric density, yielding a uniformity in process coverage across the population.SIGNIFICANCE STATEMENT Different types of retinal neuron spread their processes across the surface of the retina to achieve a degree of dendritic coverage that is characteristic of each type. Many of these types achieve a constant coverage by varying their dendritic field area inversely with the local density of like-type neighbors. Here we report a population of retinal amacrine cells that do not develop dendritic arbors in relation to the spatial positioning of such homotypic neighbors; rather, this cell type modulates the extent of its dendritic branching when faced with a variable number of overlapping dendritic fields to approximate a uniformity in dendritic density across the retina. 相似文献
Background: Aniridia is a rare developmental eye disorder characterized by complete or partial iris hypoplasia often accompanied with other ocular changes that affect the cornea, anterior chamber, lens, retina, and optic nerve. Most cases of aniridia are inherited with an autosomal dominant mode of inheritance caused by PAX6 mutations or deletions. To reveal the underlying genetic defect in a four-generation Iranian family with aniridia, we carried out a genetic screening of PAX6.
Methods: Complete ophthalmic examinations were performed for available affected family members. All PAX6 exons and their flanking regions were sequenced for affected individuals. Candidate variation was screened for segregation in the pedigree by Sanger sequencing. Bioinformatics prediction was done to evaluate the deleterious effects of the mutation on protein product. Real-time PCR was used to investigate the impact of the variant on PAX6 mRNA expression.
Results: All patients were diagnosed with isolated aniridia associated with variable phenotypic features including retinal detachment. A novel heterozygous deletion c.320_348delTGTCCGAGGGGGTCTGTACCAACGATAAC (p.Leu107HisfsX16) on PAX6 gene was detected. Decreased mRNA level of PAX6 in the affected individuals indicated that the mutation caused nonsense-mediated mRNA decay (NMD).
Conclusions: To the best of our knowledge, it is the first report on the genetics of aniridia in Iran. Segregation analysis, bioinformatics prediction and confirmation of NMD, all support the proposition that the novel observed PAX6 mutation is the cause of aniridia in the pedigree. Retinal detachment in some of the affected members, which is a rare reported phenotypic feature of aniridia patients, may be associated with this mutation. 相似文献
IntroductionThere is still no consensus in the literature as to the best acoustic stimulus for capturing vestibular evoked myogenic potential (VEMP). Low-frequency tone bursts are generally more effective than high-frequency, but recent studies still use clicks. Reproducibility is an important analytical parameter to observe the reliability of responses.ObjectiveTo determine the reproducibility of p13 and n23 latency and amplitude of the VEMP for stimuli with different tone-burst frequencies, and to define the best test frequency.MethodsCross-sectional cohort study. VEMP was captured in 156 ears, on the sternocleidomastoid muscle, using 100 tone-burst stimuli at frequencies of 250, 500, 1000, and 2000 Hz, and sound intensity of 95 dB nHL. Responses were replicated, that is, recorded three times on each side.ResultsNo significant difference was observed for p13 and n23 latencies of the VEMP, captured at three moments with tone-burst stimuli at 250, 500, and 1000 Hz. Only the frequency of 2000 Hz showed a difference between captures of this potential (p < 0.001). p13 and n23 amplitude analysis was also similar in the test–retest for all frequencies analyzed.Conclusionp13 and n23 latencies and amplitudes of VEMP for tone-burst stimuli at frequencies of 250, 500, and 1000 Hz are reproducible. 相似文献
目的 探讨快速康复外科 (FTS)理念在经后颅窝乙状窦后入路三叉神经微血管减压术围术期患者护理中的应用效果。方法 选择2018年1月~2019年1月我院收治并行经后颅窝乙状窦后入路三叉神经微血管减压患者100例,随机分成观察组和对照组,每组50例。对照组应用常规方法进行围术期护理,观察组应用FTS理念进行围术期护理。比较两组焦虑情况、术后并发症发生率、平均住院日及平均住院费用。结果 观察组轻度焦虑多于对照组,中、重度焦虑少于对照组(P<0.05);观察组术后并发症发生率低于对照组[恶心呕吐(4.00% vs 16.00%)、尿路感染(4.00% vs 18.00%)、颅内感染(0 vs 8.00%)、颅内血肿(2.00% vs 14.00%)和术后应激性疼痛(16.00% vs 34.00%)],差异有统计学意义(P<0.05);观察组平均住院日和平均住院费用均低于对照组[(9.13±1.14)d vs(12.44±0.89)d];[(2.15±0.66)万元 vs (3.05±0.61)万元],差异有统计学意义(P<0.05)。结论 应用FTS理念能缓解经后颅窝乙状窦后入路三叉神经微血管减压术患者术前紧张恐惧的心理,减少术后并发症,缩短患者住院日,降低住院费用,护理效果较好。 相似文献