Transcriptome analysis reveals candidate genes involved in splay leg syndrome in piglets

Abstract

Splay leg is frequently observed in newborn piglets and leads to economic loss as well as welfare concerns. However, the etiology and pathogenesis of splay leg syndrome in piglets are still poorly understood. The aims of this paper were to characterize changes in the transcriptome of splay leg piglets and identify candidate genes responsible for this disease. We chose three splay leg piglets and their healthy full sibs, and constructed six RNA libraries using skeletal muscle samples from both groups and identified the differentially expressed genes between the two groups using RNA-seq. A total of 555 differentially expressed genes were identified, of which 216 were up-regulated and 339 genes were down-regulated in the splay leg group relative to the healthy group. In addition, 321 significantly enriched GO terms and 12 significantly enriched KEGG pathways were identified. FBXO32 is one of the ten most differentially expressed genes in our experiment, and it is regulated by the significantly enriched pathway (PI3K-Akt). The overexpression of FBXO32 which leads to the process of muscle atrophy might be responsible for congenital splay leg in piglets. The result of this study could help improve understanding of the molecular mechanism of congenital splay leg syndrome.

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Pelagic larval dispersal habits influence the population genetic structure of clam Gomphina aequilatera in China

Abstract

Pelagic larval dispersal habits influence the population genetic structure of marine mollusk organisms via gene flow. The genetic information of the clam Gomphina aequilatera (short larval stage, 10 days) which is ecologically and economically important in the China coast is unknown. To determine the influence of planktonic larval duration on the genetic structure of G. aequilatera. Mitochondrial markers, cytochrome oxidase subunit i (COI) and 12S ribosomal RNA (12S rRNA), were used to investigate the population structure of wild G. aequilatera specimens from four China Sea coastal locations (Zhoushan, Nanji Island, Zhangpu and Beihai). Partial COI (685 bp) and 12S rRNA (350 bp) sequences were determined. High level and significant F_ST values were obtained among the different localities, based on either COI (F_ST = 0.100–0.444, P < 0.05) or 12S rRNA (F_ST = 0.193–0.742, P < 0.05), indicating a high degree of genetic differentiation among the populations. The pairwise N_m between Beihai and Zhoushan for COI was 0.626 and the other four pairwise N_m values were > 1, indicating extensive gene flow among them. The 12S rRNA showed the same pattern. AMOVA test results for COI and 12S rRNA indicated major genetic variation within the populations: 77.96% within and 22.04% among the populations for COI, 55.73% within and 44.27% among the populations for 12S rRNA. A median-joining network suggested obvious genetic differentiation between the Zhoushan and Beihai populations. This study revealed the extant population genetic structure of G. aequilatera and showed a strong population structure in a species with a short planktonic larval stage.

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What is the Most Accurate Radiographic Criterion to Determine Anterior Cervical Fusion?

Numerous methods for assessing fusion status following anterior cervical arthrodesis have been examined in the literature. Surgical exploration has been considered the gold standard for assessing fusion status; however, it has limited clinical utility. Although several radiographic fusion criteria have been suggested [1–7], the most accurate among these compared with intraoperative exploration remains to be determined.

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The biomechanical influence of anterior vertebral body osteophytes on the lumbar spine: a finite element study

Anterior vertebral body osteophytes are common with degeneration but their biomechanical influence on the whole lumbar spine remains unclear.

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Decreased occipital alpha oscillation in children who stutter during a visual Go/Nogo task

In developmental stuttering speech is dysfluent due to interruptions, repetitions and prolongations that complicate communication, often causing anxiety or fear of speaking. Many theories have associated stuttering severity with temperamental factors as high emotional reactivity (Conture et al., 2006; Bloodstein and Bernstein Ratner, 2008; Eggers and Van den Bergh, 2010) and self-regulation and inattention (Eggers et al., 2012; Eggers et al., 2013; Eggers and Jansson-Verkasalo, 2017; please see also review by Alm, 2014).

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Mediator, known as a coactivator, can act in transcription initiation in an activator-independent manner in vivo

Publication date: Available online 7 July 2018

Source: Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms

Author(s): Hélène Jean-Jacques, Siew Lay Poh, Laurent Kuras

Abstract

Mediator is an evolutionarily conserved complex best known for its role as a coactivator responsible for transducing regulatory signals from DNA-bound activators to the basal RNA polymerase II (Pol II) machinery that initiates transcription from promoters of protein-encoding genes. By exploiting our in vivo activator-independent transcription assay in Saccharomyces cerevisiae, in combination with new temperature sensitive (ts) mutants of Med14 N-terminal half exhibiting widespread transcriptional defects, and existing ts mutants of Kin28 and Med17, we show that, in the absence of activator: (i) Mediator can associate with a promoter as a form devoid of the Cyclin-dependent kinase 8 (CDK8) module, and this association remains regulated by Kin28; (ii) Mediator can stimulate the assembly of the entire Pol II initiation machinery. Although the literature emphasizes the role of the interaction between activators and Mediator, together our results support the view that Mediator is able to act through a dual mechanism in vivo, activator-dependent but also activator-independent, therefore not always as a coactivator.

Graphical abstract

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Influence of full range of motion vs. equalized partial range of motion training on muscle architecture and mechanical properties

Abstract

Purpose

The purpose of this study was to determine the effect of a 15-week partial range of motion (ROM) resistance training program on the vastus lateralis (VL) architecture and mechanical properties, when the time under tension (TUT) was equalized.

Methods

Nineteen untrained male subjects were randomly assigned to a control (Control; n = 8) or training (TG; n = 11) group. In the TG, the dominant and nondominant legs were randomly selected to be trained with a full ROM (FULL) or a partial ROM (PART) in an isokinetic dynamometer. Training volume was equalized based on the TUT by manipulating sets and repetitions. The VL muscle architecture was assessed by B-mode ultrasonography at rest and during maximal isometric knee extension contractions (MVCs) at ten knee angles. The VL fascicle force and specific tension were calculated from the MVCs with superimposed stimuli, accounting for the moment arm length, muscle architecture, and antagonist coactivation.

Results

The FULL training induced changes in fascicle length (FL) (4.9 ± 2.0%, P < 0.001) and specific tension (25.8 ± 18.7%, P < 0.001). There was a moderate effect of PART training on the physiological cross-sectional area (PCSA) (7.8 ± 4.0%, P < 0.001, d_av = 0.6) and torque–angle adaptations (average increase 17.7 ± 3.9%, P < 0.05).

Conclusions

These results provide evidence that crucial architectural and mechanical muscle adaptations are dependent on the ROM used in strength training. It seems that muscle FL and specific tension can be increased by pure concentric training if greater ROM is used. Conversely, restricting the ROM to shorter muscle lengths promotes a greater PCSA and angle-specific strength adaptations.

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Systematic identification and annotation of multiple-variant compound effects at transcription factor binding sites in human genome

Publication date: Available online 7 July 2018

Source: Journal of Genetics and Genomics

Author(s): Si-Jin Cheng, Shuai Jiang, Fang-Yuan Shi, Yang Ding, Ge Gao

Abstract

Understanding the functional effects of genetic variants is crucial in modern genomics and genetics. Transcription factor binding sites (TFBSs) are one of the most important cis-regulatory elements. While multiple tools have been developed to assess functional effects of genetic variants at TFBSs, they usually assume that each variant works in isolation and neglect the potential "interference" among multiple variants within the same TFBS. In this study, we presented COPE-TFBS (Context-Oriented Predictor for variant Effect on Transcription Factor Binding Site), a novel method that considers sequence context to accurately predict variant effects on TFBSs. We systematically re-analyzed the sequencing data from both the 1000 Genomes Project and the Genotype-Tissue Expression (GTEx) Project via COPE-TFBS, and identified numbers of novel TFBSs, transformed TFBSs and discordantly annotated TFBSs resulting from multiple variants, further highlighting the necessity of sequence context in accurately annotating genetic variants. COPE-TFBS is freely available for academic use at http://cope.cbi.pku.edu.cn/.

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MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss

Abstract

While recent studies have revealed a substantial portion of the genes underlying human hearing loss, the extensive genetic landscape has not been completely explored. Here, we report a loss-of-function variant (c.72delA) in MPZL2 in three unrelated multiplex families from Turkey and Iran with autosomal recessive nonsyndromic hearing loss. The variant co-segregates with moderate sensorineural hearing loss in all three families. We show a shared haplotype flanking the variant in our families implicating a single founder. While rare in other populations, the allele frequency of the variant is ~ 0.004 in Ashkenazi Jews, suggesting that it may be an important cause of moderate hearing loss in that population. We show that Mpzl2 is expressed in mouse inner ear, and the protein localizes in the auditory inner and outer hair cells, with an asymmetric subcellular localization. We thus present MPZL2 as a novel gene associated with sensorineural hearing loss.

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Pediatric neuroanesthesia

Purpose of review Pediatric neuroanesthesia is a fascinating, yet challenging branch of anesthesia. This review highlights some of the recent insights into pediatric neuroanesthesia from the past 18 months. Recent findings Although there are incontrovertible evidences in animals suggesting that prolonged exposure to general anesthesia causes long-term neurological impairment, the translational relevance of these findings in humans is debatable. Early surgery for pediatric drug-refractory epilepsy is supported by emerging literature, but poses unique perioperative problems for the treating neuroanesthesiologist. Similarly, minimizing intraoperative blood loss and blood transfusion concerns every anesthesiologist managing small children. The usefulness of tranexamic acid in children is further enhanced by some studies in spine surgeries. Some pertinent issues related to intraoperative neuromonitoring are also discussed in the text. Summary There are several logistical and ethical problems of carrying out high-quality prospective studies in children but important findings on prevention of anesthetic neurotoxicity; minimizing intraoperative blood loss, intraoperative neurophysiological monitoring, examining optimal doses and choices of anesthetic agents in epilepsy surgery have been published recently. Correspondence to Dr Girija P. Rath, MBBS, MD, DM, Professor, Department of Neuroanaesthesiology and Critical Care, All India Institute of Medical Sciences (AIIMS), New Delhi, India. Tel: +91 9810602272; e-mail: girijarath@yahoo.co.in Copyright © 2018 YEAR Wolters Kluwer Health, Inc. All rights reserved.

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Implementing the German model of work-related medical rehabilitation: Did the delivered dose of work-related treatment components increase?

Publication date: Available online 7 July 2018

Source: Archives of Physical Medicine and Rehabilitation

Author(s): Matthias Bethge, Miriam Markus, Marco Streibelt, Christian Gerlich, Michael Schuler

Abstract

Objective

Work-related components are an essential part of rehabilitation programs to support return to work of patients with musculoskeletal disorders. In Germany, a guideline for work-related medical rehabilitation was developed to increase work-related treatment components. In addition, new departments were approved to implement work-related medical rehabilitation programs. The aim of our study was to explore the state of implementation of the guideline's recommendations by describing the change in the delivered dose of work-related treatments.

Design

Nonrandomized controlled trial (cohort study).

Setting

59 German rehabilitation centers.

Participants

9,046 patients with musculoskeletal disorders were treated in work-related medical rehabilitation or common medical rehabilitation. Patients were matched one-to-one by propensity scores.

Interventions

Work-related medical rehabilitation in 2014 and medical rehabilitation in 2011

Main outcome measures

Treatment dose of work-related therapies.

Results

The mean dose of work-related therapies increased from 2.2 hours (95% CI: 1.6-2.8) to 8.9 hours (95% CI: 7.7-10.1). The mean dose of social counseling increased from 51 to 84 minutes, the mean dose of psychosocial work-related groups from 39 to 216 minutes, and the mean dose of functional capacity training from 39 to 234 minutes. The intraclass correlation of 0.67 (95% CI: 0.58-0.75) for the total dose of work-related therapies indicated that the variance explained by centers was high.

Conclusions

The delivered dose of work-related components was increased. However, there were discrepancies between the guideline's recommendations and the actual dose delivered in at least half of the centers. It is very likely that this will affect the effectiveness of work-related medical rehabilitation in practice.

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Editorial Board

Publication date: June 2018

Source: Archives of Physical Medicine and Rehabilitation, Volume 99, Issue 6

Author(s):

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Effects of Timing and Intensity of Neurorehabilitation on Functional Outcome After Traumatic Brain Injury: A Systematic Review and Meta-Analysis

Publication date: June 2018

Source: Archives of Physical Medicine and Rehabilitation, Volume 99, Issue 6

Author(s): Marsh Königs, Eva A. Beurskens, Lian Snoep, Erik J. Scherder, Jaap Oosterlaan

Abstract

Objective

To systematically review evidence on the effects of timing and intensity of neurorehabilitation on the functional recovery of patients with moderate to severe traumatic brain injury (TBI) and aggregate the available evidence using meta-analytic methods.

Data Sources

PubMed, Embase, PsycINFO, and Cochrane Database.

Study Selection

Electronic databases were searched for prospective controlled clinical trials assessing the effect of timing or intensity of multidisciplinary neurorehabilitation programs on functional outcome of patients with moderate or severe TBI. A total of 5961 unique records were screened for relevance, of which 58 full-text articles were assessed for eligibility by 2 independent authors. Eleven articles were included for systematic review and meta-analysis.

Data Extraction

Two independent authors performed data extraction and risk of bias analysis using the Cochrane Collaboration tool. Discrepancies between authors were resolved by consensus.

Data Synthesis

Systematic review of a total of 6 randomized controlled trials, 1 quasi-randomized trial, and 4 controlled trials revealed consistent evidence for a beneficial effect of early onset neurorehabilitation in the trauma center and intensive neurorehabilitation in the rehabilitation facility on functional outcome compared with usual care. Meta-analytic quantification revealed a large-sized positive effect for early onset rehabilitation programs (d=1.02; P<.001; 95% confidence interval [CI], 0.56–1.47) and a medium-sized positive effect for intensive neurorehabilitation programs (d=.67; P<.001; 95% CI, .38–.97) compared with usual care. These effects were replicated based solely on studies with a low overall risk of bias.

Conclusions

The available evidence indicates that early onset neurorehabilitation in the trauma center and more intensive neurorehabilitation in the rehabilitation facility promote functional recovery of patients with moderate to severe TBI compared with usual care. These findings support the integration of early onset and more intensive neurorehabilitation in the chain of care for patients with TBI.

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Early Botulinum Toxin Injections in Infants With Musculoskeletal Disorders: A Systematic Review of Safety and Effectiveness

Publication date: June 2018

Source: Archives of Physical Medicine and Rehabilitation, Volume 99, Issue 6

Author(s): Jean-Sébastien Bourseul, Anais Molina, Mael Lintanf, Laetitia Houx, Emmanuelle Chaléat-Valayer, Christelle Pons, Sylvain Brochard

Abstract

Objective

To report current evidence regarding the safety of intramuscular botulinum toxin injection (BTI) in children with orthopedic- and neurologic-related musculoskeletal disorders >2 years of age.

Data Sources

PubMed, Cochrane Library, and ScienceDirect, Google Scholar, and Web of Science.

Study Selection

Two reviewers independently selected studies based on predetermined inclusion criteria.

Data Extraction

Data relating to the aim were extracted. Methodologic quality was graded independently by 2 reviewers using the Physiotherapy Evidence Database scale for randomized controlled trials (RCTs) and the Downs and Black evaluation tool for non-RCTs. Level of evidence was determined using the modified Sackett scale.

Data Synthesis

Data of 473 infants were analyzed. Fifty-five infants had cerebral palsy, 112 had obstetric brachial plexus palsy, 257 had clubfoot, and 44 had congenital torticollis. No studies reported any severe adverse event that could be attributed to the BTI. The rate of mild to moderate adverse events reported varied from 5% to 25%. Results regarding efficacy were preliminary, dependent on the pathology, and limited by the small number of studies and their low levels of evidence.

Conclusions

BTI is already widely used as an early treatment for this age group. The safety profile of BTI in infants appears similar to that of older children and risks appear more related to the severity of the pathology and the location of the injections than to the toxin itself. Regarding effectiveness, other studies with higher levels of evidence should be carried out for each specific pathology.

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