Magnetoreception: activation of avian cryptochrome 1a in various light conditions

Abstract

The avian magnetic inclination compass is based on radical pair processes, with cryptochrome (Cry) assumed to form the crucial radical pairs; it requires short-wavelength light from UV to green. Under high-intensity narrow-band lights and when yellow light is added, the magnetic compass is disrupted: migratory birds no longer prefer their migratory direction, but show other orientation responses. The candidate receptor molecule Cry1a is located in the shortwavelength-sensitive SWS1 cone photoreceptors in the retina. The present analysis of avian retinae after the respective illuminations showed that no activated Cry1a was present under 565 nm green light of medium and high intensity, and hardly any under high intensity 502 nm turquoise, whereas we found activated Cry1a at all three tested intensities of 373 nm UV and 424 nm blue light. Activated Cry1a also was found when 590 nm yellow light was added to low-intensity light of the four colors; yet these light combinations result in impaired magnetic orientation. This indicates that the disruption of the magnetic compass does not occur at the receptor level in the retina, but at higher processing stages, where the unnatural, almost monochromatic or bichromatic illumination causes yet unknown responses that interfere with the inclination compass.

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The impact of GJA8 SNPs on susceptibility to age-related cataract

Abstract

The gap junction protein alpha 8 (GJA8) gene has been widely studied in human congenital cataracts. However, little is known about its relationship with age-related cataract (ARC). In this study, three GJA8-tagged single nucleotide polymorphisms related to an increased ARC risk were identified: rs2132397 for general ARC under both dominant and additive models; rs7541950 for general ARC under both recessive and additive models; and rs6657114 for cortical cataract under the recessive model. To uncover the underlying mechanisms, this study also sought to explore whether GJA8 is involved in the autophagy process in human lens epithelial cells. The results showed that GJA8 may participate in autophagy to maintain the intracellular environment, which may be a novel mechanism for cataract formation induced by GJA8. In conclusion, this study identified the genetic susceptibility of GJA8 polymorphisms on ARC and provides new clues for fully understanding the pathological mechanism of GJA8 variants in affecting lens opacity.

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Diagnostic Accuracy Of Sensory Clinical Findings Of The Hand Dorsum And Of Neurography Of The Dorsal Ulnar Cutaneous Nerve In Ulnar Neuropathy At The Elbow

Publication date: Available online 21 October 2018

Source: Archives of Physical Medicine and Rehabilitation

Author(s): Mauro Mondelli, Federica Ginanneschi, Alessandro Aretini

Abstract

Objective

The main objective is to investigate the diagnostic accuracy and the relation of touch sensation and subjective sensory symptoms in the medial aspect of the hand dorsum, and neurography of the dorsal ulnar cutaneous nerve (DUCN) in ulnar neuropathy at the elbow (UNE). Secondary objective is to report the electrophysiological occurrence of anatomical variant of sensory innervation of the medial aspect of the hand dorsum from superficial radial nerve (SRN).

Design

Prospective, cohort study.

Setting

Electromyography laboratory.

Participants

Consecutive subjects (N=282), those with UNE (N=81) and those without UNE (N=201) were enrolled.

Interventions

Not applicable

Main Outcome Measures

Accuracy and agreement between sensory clinical findings of the medial hand dorsum and neurography of DUCN in UNE diagnosis.

Results

DUCN neurographic and sensory findings had high specificity and relatively low sensitivity. Normal/abnormal sensory nerve action potential (SNAP) of DUCN matched with normal/abnormal touch sensation of the medial aspect of hand dorsum. Abnormal DUCN SNAP was related to the clinical severity of UNE and to the axonal damage of the ulnar nerve. Anatomical variant of the innervation of hand dorsum from SRN was demonstrated in in 31/564 hands (6.2%) belonging to 26/282 subjects (9.2%). If the variant was present, DUCN SNAP of the same side was more frequently absent or of low amplitude.

Conclusions

The utility of DUCN neurography and sensory findings of the medial aspect of the dorsum of the hand is limited in the diagnosis of UNE. However, if DUCN SNAP is absent or low in amplitude, it is advisable to check the presence of the anatomical variant of the innervation of the medial aspect of the hand dorsum from SRN.

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Comparative Efficacy of Non-invasive Neurostimulation Therapies for Acute and Subacute Post-Stroke Dysphagia: A Systematic Review and Network Meta-Analysis

Publication date: Available online 21 October 2018

Source: Archives of Physical Medicine and Rehabilitation

Author(s): Ching-Fang Chiang, Meng-Ting Lin, Ming-Yen Hsiao, Yi-Chun Yeh, Yun-Chieh Liang, Tyng-Guey Wang

Abstract

Objective

To investigate the effectiveness of non-invasive neurostimulation therapies in patients with post-stroke dysphagia.

Data Sources

Electronic databases, including EMBASE, PubMed, Scopus, and the Cochrane Library were searched up to May 31, 2018.

Study Selection

All published randomized controlled trials (RCTs) comparing neurostimulation therapies including repetitive transcranial magnetic stimulation (rTMS), transcranial direct current stimulation (tDCS), surface neuromuscular electrical stimulation (NMES), and pharyngeal electrical stimulation (PES) in patients with acute and subacute post-stroke dysphagia were included. Nineteen RCTs were enrolled in the meta-analysis.

Data Extraction

Full texts were independently reviewed. Two independent raters assessed the risk of bias of RCTs with the Cochrane Risk of Bias Tool. The primary outcome measure was swallowing function evaluated before and after neurostimulation therapy.

Data Synthesis

Both pairwise and network meta-analysis revealed that rTMS, tDCS and surface NMES significantly improved post-stroke dysphagia compared with placebo. Differences in functional improvement between PES and placebo were not significant. Based on probability ranking, rTMS seemed the best treatment among the four neurostimulation therapies. In the network meta-analysis, rTMS showed the best efficacy compared with placebo (standardized mean difference [SMD]: 1.02, 95% confidence interval [CI]: 0.61 to 1.43).

Conclusion

Among the four non-invasive neurostimulation therapies, rTMS, tDCS and surface NMES were effective for treating post-stroke dysphagia; furthermore, rTMS may be the most effective therapy according to probability ranking.

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Genomic landscapes of Chinese sporadic autism spectrum disorders revealed by whole-genome sequencing

Publication date: Available online 21 October 2018

Source: Journal of Genetics and Genomics

Author(s): Jinyu Wu, Ping Yu, Xin Jin, Xiu Xu, Jinchen Li, Zhongshan Li, Mingbang Wang, Tao Wang, Xueli Wu, Yi Jiang, Wanshi Cai, Junpu Mei, Qingjie Min, Qiong Xu, Bingrui Zhou, Hui Guo, Ping Wang, Wenhao Zhou, Zhengmao Hu, Yingrui Li

Abstract

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with considerable clinical and genetic heterogeneity. In this study, we identified all classes of genomic variants from whole-genome sequencing (WGS) dataset of 32 Chinese trios with ASD, including de novo mutations, inherited variants, copy number variants (CNVs) and genomic structural variants. A higher mutation rate (Poisson test, P < 2.2×10^-16) in exonic (1.37×10^-8) and 3′-UTR regions (1.42×10^-8) were revealed in comparison with that of whole genome (1.05×10^-8). Using an integrated model, we identified 87 potentially risk genes (P < 0.01) from 4 832 genes harboring various rare deleterious variants, including CHD8 and NRXN2, implying that the disorders may be in favor to multiple-hit. In particular, frequent rare inherited mutations of several microcephaly-associated genes (ASPM, WDR62, and ZNF335) were found in ASD. In chromosomal structure analyses, we found four de novo CNVs and one de novo chromosomal rearrangement event, including a de novo duplication of UBE3A-containing region at 15q11.2-q13.1, which causes Angelman syndrome and microcephaly, and a disrupted TNR due to de novo chromosomal translocation t(1;5)(q25.1;q33.2). Taken together, our results suggest that abnormalities of centrosomal function and chromatin remodeling of the microcephaly-associated genes may be implicated in pathogenesis of ASD. Adoption of WGS as a new yet efficient technique to illustrate the full genetic spectrum in complex disorders, such as ASD, could provide novel insights into pathogenesis, diagnosis and treatment.

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Contents

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Editorial Board

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