Κυριακή 9 Σεπτεμβρίου 2018

Effects of eccentric training with different training frequencies on blood circulation, collagen fiber orientation, and mechanical properties of human Achilles tendons in vivo

Abstract

Purpose

The purpose of the present study was to compare the effects of eccentric training with different training frequencies on the blood circulation, collagen orientation, and mechanical properties of the human Achilles tendon in vivo.

Methods

Ten healthy males completed 12 weeks of a unilateral eccentric training program {(15 repetitions with knee straight and 15 repetitions with knee slightly bent) × 6 sets in a single session} for the plantar flexor muscles. They performed training three times per week on one side (3TW) and six times per week on the other side (6TW). Before and after training, changes in blood volume, coefficient of variation (CV) of echogenicity (reflects collagen fiber orientation), and stiffness of the Achilles tendon were compared by two-way analysis of variance.

Results

The tendon blood volume tended to increase after 3TW and 6TW (p = 0.064). Tendon stiffness did not change after 3TW and 6TW, whereas the elongation of tendon structures at three force levels (50, 100, and 150 N) significantly decreased with 3TW, but not 6TW. The CV of echogenicity significantly decreased after 3TW and 6TW. However, no significant differences were observed in the relative changes in these measured variables between 3TW and 6TW.

Conclusion

The present results demonstrated an increase in blood volume, the alignment of collagen fibers, and unchanged stiffness of the Achilles tendon after 12 weeks of eccentric training. Furthermore, the training frequency did not influence these training-induced changes in the tendon properties.



from Physiology via xlomafota13 on Inoreader https://ift.tt/2Mf1h2h
via IFTTT

Myofibrillar myopathy in the genomic context

Abstract

Myofibrillar myopathy (MFM) is a group of inherited muscular disorders characterized by myofibril dissolution and abnormal accumulation of degradation products. The diagnosis of muscular disorders based on clinical presentation is difficult due to phenotypic heterogeneity and overlapping symptoms. In addition, precise diagnosis does not always explain the disease etiopathology or the highly variable clinical course even among patients diagnosed with the same type of myopathy. The advent of high-throughput next-generation sequencing (NGS) has provided a successful and cost-effective strategy for identification of novel causative genes in myopathies, including MFM. So far, pathogenic mutations associated with MFM phenotype, including atypical MFM-like cases, have been identified in 17 genes: DES, CRYAB, MYOT, ZASP, FLNC, BAG3, FHL1, TTN, DNAJB6, PLEC, LMNA, ACTA1, HSPB8, KY, PYROXD1, and SQSTM + TIA1 (digenic). Most of these genes are also associated with other forms of muscle diseases. In addition, in many MFM patients, numerous genomic variants in muscle-related genes have been identified. The various myopathies and muscular dystrophies seem to form a single disease continuum; therefore, gene identification in one disease impacts the genetic etiology of the others. In this review, we describe the heterogeneity of the MFM genetic background focusing on the role of rare variants, the importance of whole genome sequencing in the identification of novel disease-associated mutations, and the emerging concept of variant load as the basis of the phenotypic heterogeneity.



from Genetics via xlomafota13 on Inoreader https://ift.tt/2O2JTQ7
via IFTTT

Transanal completion proctectomy with close rectal dissection and ileal pouch‐anal anastomosis for ulcerative colitis

Asian Journal of Endoscopic Surgery, EarlyView.


from Endoscopy via xlomafota13 on Inoreader https://ift.tt/2Qjabze
via IFTTT

Developing a one-step triplet-repeat primed PCR assay for diagnosing myotonic dystrophy

Publication date: Available online 8 September 2018

Source: Journal of Genetics and Genomics

Author(s): Xiaoping Lan, Na Li, Hongling Wan, Lintong Luo, Yiming Wu, Sanxiang Li, Yu An, Bai-Lin Wu



from Genetics via xlomafota13 on Inoreader https://ift.tt/2NX4wx0
via IFTTT

Ocular torsion responses to electrical vestibular stimulation in Vestibular Schwannoma

Publication date: Available online 8 September 2018

Source: Clinical Neurophysiology

Author(s): Stuart W. Mackenzie, Richard Irving, Peter Monksfield, Raghu Kumar, Attila Dezso, Raymond F. Reynolds

Abstract
Objectives

We determined if eye movements evoked by Electrical Vestibular Stimulation (EVS) can be used to detect vestibular dysfunction in patients with unilateral vestibular schwannoma (VS).

Methods

Ocular torsion responses to monaural sinusoidal EVS currents (± 2mA, 2Hz) were measured in 25 patients with tumours ranging in size from Koos grade 1 to 3. For comparative purposes we also measured postural sway response to EVS, and additionally assessed vestibular function with the lateral Head Impulse Test (HIT). Patient responses were compared to age-matched healthy control subjects.

Results

Patients exhibited smaller ocular responses to ipsilesional versus contralesional EVS, and showed a larger asymmetry ratio (AR) than control subjects (19.4 vs. 3.3%, p<0.05). EVS-evoked sway responses were also smaller in ipsilesional ear, but exhibited slightly more variability than the eye movement response, along with marginally lower discriminatory power (patients vs. controls: AR=16.6 vs 2.6%, p<0.05). The HIT test exhibited no significant difference between groups.

Conclusions

These results demonstrate significant deficits in the ocular torsion response to EVS in VS patients.

Significance

The fast, convenient and non-invasive nature of the test are well suited to clinical use.



from Physiology via xlomafota13 on Inoreader https://ift.tt/2MYDgC3
via IFTTT

The Association Of Performance Status And Disease Severity In Patients With Chronic Graft-Versus-Host Disease

Publication date: Available online 8 September 2018

Source: Archives of Physical Medicine and Rehabilitation

Author(s): Cody Andrews, Sean Smith, Maggi Kennel, Steve Schilling, Claire Kalpakjian

Abstract
Objective

Determine the relationship between functional status and degree of specific organ involvement, physical performance, and subjective well-being Chronic graft-versus-host disease (cGVHD) after allogeneic hematopoietic stem cell transplantation

Design

Observational cohort.

Setting

Outpatient clinic.

Participants

Adult patients (N = 121) with cGVHD with 634 assessments.

Interventions

Not applicable.

Main Outcome Measure(s)

Karnofsky Performance Status (KPS). Skin, fascia/joints, lungs, upper and lower extremity range of motion, liver, eye, mucosal, and gastrointestinal involvement were measured using the National Institutes of Health GVHD scale. Physical performance was assessed with the 2-Minute Walk test and hand grip strength. Subjective measures were the Patient Health Questionnaire 9 (PHQ-9) and Lee Symptom Burden (LSB) scale.

Results

Myofascial (p<.001) and lung (p=.001) involvement, 2-Minute Walk test (p<.001), LSB (p<.001) and PHQ-9 (p=.03) had the largest associations with KPS with liver (p=.05) and hand grip strength (p<.001) more modest associations with KPS.

Conclusions

Patients with cGVHD experience multifactorial impairment in function associated with potentially modifiable symptoms physiatrists have the expertise to address to enhance function. More research is needed to determine rehabilitation interventions to mitigate the impact of cGVHD on function.



from Rehabilitation via xlomafota13 on Inoreader https://ift.tt/2MeK2Ov
via IFTTT

A review of infrared thermography as applied to human sexual psychophysiology

Publication date: Available online 9 September 2018

Source: International Journal of Psychophysiology

Author(s): Inês M. Tavares, Ricardo Vardasca, Nicoletta Cera, Raquel Pereira, Filippo M. Nimbi, Dominika Lisy, Erick Janssen, Pedro J. Nobre

Abstract

Infrared thermography (IRT) is a non-contact technique that permits mapping and analysis of the temperature of the body's skin surface. This method has been applied to sexual psychophysiology since the 1980s and its use has been expanding ever since, mainly because it provides several advantages over existing genital response measures. This article presents a review of experimental studies employing IRT to investigate human sexual arousal, with the aim of summarizing the available procedures and evidence so far and to identify important caveats in the literature. The studies reviewed support the feasibility and validity of IRT as a real-time physiological measure of sexual arousal but varied substantially regarding methodology and procedures. The results of this review underscore the value and validity of IRT in sexual psychophysiology and point at the critical need for the standardization of IRT protocols to accommodate the specific needs of applying this methodology to sexual physiology.



from Physiology via xlomafota13 on Inoreader https://ift.tt/2CBiX8U
via IFTTT

Disappearance of self-serving bias: Reward positivity reflects performance monitoring modulated by responsibility attribution in a two-person cooperative task

Publication date: Available online 8 September 2018

Source: International Journal of Psychophysiology

Author(s): Peng Li, Hang Yin, Huyan Xu, Yi Lei, Hong Li

Abstract

Performance monitoring plays a virtual role in individual reinforcement learning. However, it remains unclear how responsibility attribution modulates the individual monitoring process in a social cooperative context. In the present study, 46 participants received feedback on the team's monetary outcome, teammate performance, and their own performance sequentially for a two-person task. Using event-related potential (ERP), we analyze brain activity in response to performance monitoring during team and self feedback, indexed according to reward positivity (RewP). Overall, the participants reported a modest tendency towards causal attribution in terms of taking more responsibility for negative rather than positive team-feedback, thus indicating an opposite pattern to the so-called self-serving bias phenomenon. Based on post-experiment responsibility attribution, participants were further divided into a 'Modest' group (N = 23) who reported more responsibility for team failure than success, and an 'Ordinary' group (N = 23) who made comparable attribution irrespective of team outcome. The ERP results show that there is no difference in RewP amplitudes between the two groups when the participants were processing the team's monetary feedback. However, the observed RewP amplitudes are notably different in the Modest group when processing self-performance feedback at different levels of responsibility attribution. These findings demonstrate that neural activity during performance monitoring does not differ between the two groups. However, using different responsibility attribution tendencies does affect brain activity during individual performance monitoring. The observed RewP effect sheds light on the automatic and implicit evaluation of one's own performance in a social cooperative context.



from Physiology via xlomafota13 on Inoreader https://ift.tt/2wQZCv5
via IFTTT

Spinal manifestations in 12 patients with musculocontractural Ehlers‐Danlos syndrome caused by CHST14/D4ST1 deficiency (mcEDS‐CHST14)

American Journal of Medical Genetics Part A, EarlyView.


from Genetics via xlomafota13 on Inoreader https://ift.tt/2N25pYC
via IFTTT

A novel mutation in CDH11, encoding cadherin‐11, cause Branchioskeletogenital (Elsahy‐Waters) syndrome

American Journal of Medical Genetics Part A, EarlyView.


from Genetics via xlomafota13 on Inoreader https://ift.tt/2CA9w9C
via IFTTT

A novel ASPH variant extends the phenotype of Shawaf‐Traboulsi syndrome

American Journal of Medical Genetics Part A, EarlyView.


from Genetics via xlomafota13 on Inoreader https://ift.tt/2N25mfo
via IFTTT

Understanding the pediatric psychiatric phenotype of 22q11.2 deletion syndrome

American Journal of Medical Genetics Part A, EarlyView.


from Genetics via xlomafota13 on Inoreader https://ift.tt/2CBcvia
via IFTTT

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

American Journal of Medical Genetics Part A, EarlyView.


from Genetics via xlomafota13 on Inoreader https://ift.tt/2oRZlDz
via IFTTT

Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care

American Journal of Medical Genetics Part A, EarlyView.


from Genetics via xlomafota13 on Inoreader https://ift.tt/2CyIbor
via IFTTT

LAMP2 exon‐copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?

American Journal of Medical Genetics Part A, EarlyView.


from Genetics via xlomafota13 on Inoreader https://ift.tt/2oRZeYF
via IFTTT

Genomic detection of a familial 382 Kb 6q27 deletion in a fetus with isolated severe ventriculomegaly and her affected mother

American Journal of Medical Genetics Part A, EarlyView.


from Genetics via xlomafota13 on Inoreader https://ift.tt/2CwCyXE
via IFTTT

Skeletal muscle ceramides and relationship to insulin sensitivity after two weeks of simulated sedentary behavior and recovery in healthy older adults

The Journal of Physiology, Volume 0, Issue ja, -Not available-.


from Physiology via xlomafota13 on Inoreader https://ift.tt/2NXdB8V
via IFTTT

Sodium and potassium conductances in principal neurons of the mouse piriform cortex: A quantitative description

The Journal of Physiology, Volume 0, Issue ja, -Not available-.


from Physiology via xlomafota13 on Inoreader https://ift.tt/2NuqrP1
via IFTTT

TLR7 agonist attenuates acetylcholine‐induced, Ca2+‐dependent ionic currents in swine tracheal submucosal gland cells

Experimental Physiology, Volume 0, Issue ja, -Not available-.


from Physiology via xlomafota13 on Inoreader https://ift.tt/2NwDeAw
via IFTTT