FMR1 premutation frequency in a large, ethnically diverse population referred for carrier testing

American Journal of Medical Genetics Part A, EarlyView.


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GNAS-mutated carcinoma arising from gastric foveolar metaplasia in the duodenum after 9 years of observation

Abstract

This case involved an 80-year-old man. Screening with esophagogastroduodenoscopy (EGD) in 2004 revealed Brunner's gland hyperplasia (BGH), 5 mm in size, in the duodenal bulb. The size of the lesion increased and its shape has changed since then, as detected in subsequent EGDs. The lesion had increased in size to 15 mm with a depression and biopsy specimens revealed an adenocarcinoma. The patient underwent endoscopic mucosal resection. Histopathological assessments indicated an adenocarcinoma arising from gastric foveolar metaplasia (GFM) adjacent to BGH. BGH stained positive for MUC6, and GFM and the adenocarcinoma stained positive for MUC5AC. Mutations of the GNAS gene were not detected in the GFM biopsied in 2007. On the other hand, common GNAS mutations (R201H) were detected in GFM and the adenocarcinoma in the endoscopically resected specimen in 2013. Moreover, mutant allele frequencies were higher in the carcinoma than in GFM. The patient remains disease-free for 4 years after endoscopic treatment. This case report further supports the notion that GFM may be a precursor lesion in the process of GNAS-mutated, gastric-type duodenal carcinogenesis.

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Improving Dual-Task Control with a Posture-Second Strategy in Early-Stage Parkinson’s Disease

Publication date: Available online 31 March 2018
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Cheng-Ya Huang, Yu-An Chen, Ing-Shiou Hwang, Ruey-Meei Wu
ObjectiveTo examine the task prioritization effects on postural-suprapostural dual task performance in patients with early-stage Parkinson's disease (PD) without clinical observed postural symptoms.DesignCross-sectional study. Participants performed a force-matching task while standing on a mobile-platform, and were instructed to focus their attention on either the postural task (posture-first strategy) or the force-matching task (posture-second strategy).SettingUniversity research laboratory.Participants16 individuals with early-stage PD who has no clinical observed postural symptoms.InterventionsNot applicable.Main Outcome MeasuresDual-task change (DTC, % change between single-task and dual-task performance) of posture error, posture approximate entropy (ApEn), force error, and reaction time (RT). Positive DTC values indicate higher postural error, posture ApEn, force error, and force RT during dual-task conditions compared to single-task conditions.ResultsCompared to the posture-first strategy, the posture-second strategy was associated with smaller DTC of posture error and force error, and greater DTC of posture ApEn. In contrast, greater DTC of force RT was observed under posture-second strategy.ConclusionsContrary to typical recommendations, our results suggest that the posture-second strategy may be an effective dual-task strategy in patients with early-stage PD who has no clinical observed postural symptoms in order to reduce the negative effect of dual-tasking on performance and facilitate postural automaticity.



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Effectiveness of home-based exercises without supervision by physical therapists for patients with early-stage amyotrophic lateral sclerosis: A pilot study

Publication date: Available online 31 March 2018
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Kosuke Kitano, Takashi Asakawa, Naoto Kamide, Keisuke Yorimoto, Masaki Yoneda, Yutaka Kikuchi, Makoto Sawada, Tetsuo Komori
ObjectiveThis study aimed to verify the effects of structured home-based exercises without supervision by a physical therapist on patients with early-stage amyotrophic lateral sclerosis (ALS).DesignThis is a historical controlled study that is part of a multicenter collaborative study.SettingRehabilitation departments at general hospitals and outpatient clinics with a neurology department in Japan.ParticipantsTwenty-one patients with ALS were enrolled and designated as the Home-EX group, and they performed unsupervised home-based exercises. As a control group, 84 patients with ALS who underwent supervised exercise with a physical therapist for 6 months were extracted from a database of patients with ALS and matched with the Home-EX group in terms of their basic attributes and clinical features.InterventionThe Home-EX group was instructed to perform structured home-based exercises without supervision by a physical therapist that consisted of muscle stretching, muscle training, and functional training for 6 months.Main outcome measureThe primary outcome was the score on the ALS Functional Rating Scale-Revised (ALSFRS-R), which is composed of 3 domains: bulbar function, limb function, and respiratory function. The score ranges from 0 to 48 points, and a higher score indicates better function.ResultsIn the Home-EX group, 15 patients completed the home-based exercises for 6 months, and 6 patients dropped out due to medical reasons or disease progression. No adverse events were reported. The Home-EX group was found to have a significantly higher respiratory function sub-score and total score on ALSFRS-R than the control group at follow-up (p < 0.001 and p < 0.05, respectively).ConclusionStructured home-based exercises without supervision by a physical therapist could be used to alleviate functional deterioration in patients with early-stage ALS.



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Sensitivity of the SCI-FI/AT in Individuals with Traumatic Spinal Cord Injury

Publication date: Available online 31 March 2018
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Tamra Keeney, Mary Slavin, Pamela Kisala, Pengsheng Ni, Allen W. Heinemann, Susan Charlifue, Denise C. Fyffe, Ralph J. Marino, Leslie R. Morse, Lynn A. Worobey, Denise Tate, David Rosenblum, Ross Zafonte, David Tulsky, Alan M. Jette
ObjectiveTo examine the ability of the Spinal Cord Injury Functional Index Assistive Technology (SCI-FI/AT) measure to detect change in persons with SCI.DesignMulti-site, longitudinal (12-month follow-up).Setting9 SCI Model Systems programs.Participants165 adults with SCI enrolled in the SCI Model Systems database.InterventionsNot applicable.Main Outcome MeasuresSCI-FI/AT CAT (Basic Mobility, Self-Care, Fine Motor Function, Wheelchair Mobility, and/or Ambulation) completed at discharge from rehabilitation and 12 months post-SCI. For each domain, effect size (ES) estimates and 95% confidence intervals were calculated for subgroups with paraplegia and tetraplegia.ResultsSample demographics: 46% paraplegia, 76% male, 57% used a manual wheelchair, 38% used a power wheelchair, 30% were ambulatory. For individuals with paraplegia the Basic Mobility, Self-Care, and Ambulation domains of the SCI-FI/AT detected a significant, large amount of change; in contrast, the Fine Motor and Wheelchair domains detected only small amount of change. For those with tetraplegia, the Basic Mobility, Fine Motor, and Self-Care domains detected a small amount of change; while the Ambulation item domain detected a medium amount of change. The Wheelchair domain for people with tetraplegia was the only SCI-FI/AT domain that did not detect significant change.ConclusionSCI-FI/AT CAT item banks detected an increase in function from discharge to 12-months after SCI onset. SCI-FI/AT CAT ES estimates vary by domain and level of lesion. Findings support use of the SCI-FI/AT CAT in the SCI population and highlight the importance of multidimensional functional measures.



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Dental calculus indicates widespread plant use within the stable Neanderthal dietary niche

Publication date: June 2018
Source:Journal of Human Evolution, Volume 119
Author(s): Robert C. Power, Domingo C. Salazar-García, Mauro Rubini, Andrea Darlas, Katerina Havarti, Michael Walker, Jean-Jacques Hublin, Amanda G. Henry
The ecology of Neanderthals is a pressing question in the study of hominin evolution. Diet appears to have played a prominent role in their adaptation to Eurasia. Based on isotope and zooarchaeological studies, Neanderthal diet has been reconstructed as heavily meat-based and generally similar across different environments. This image persists, despite recent studies suggesting more plant use and more variation. However, we have only a fragmentary picture of their dietary ecology, and how it may have varied among habitats, because we lack broad and environmentally representative information about their use of plants and other foods. To address the problem, we examined the plant microremains in Neanderthal dental calculus from five archaeological sites representing a variety of environments from the northern Balkans, and the western, central and eastern Mediterranean. The recovered microremains revealed the consumption of a variety of non-animal foods, including starchy plants. Using a modeling approach, we explored the relationships among microremains and environment, while controlling for chronology. In the process, we compared the effectiveness of various diversity metrics and their shortcomings for studying microbotanical remains, which are often morphologically redundant for identification. We developed Minimum Botanical Units as a new way of estimating how many plant types or parts are present in a microbotanical sample. In contrast to some previous work, we found no evidence that plant use is confined to the southern-most areas of Neanderthal distribution. Although interpreting the ecogeographic variation is limited by the incomplete preservation of dietary microremains, it is clear that plant exploitation was a widespread and deeply rooted Neanderthal subsistence strategy, even if they were predominately game hunters. Given the limited dietary variation across Neanderthal range in time and space in both plant and animal food exploitation, we argue that vegetal consumption was a feature of a generally static dietary niche.



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Pathophysiology of Noncardiac Syncope in Athletes

Abstract

The most frequent cause of syncope in young athletes is noncardiac etiology. The mechanism of noncardiac syncope (NCS) in young athletes is neurally-mediated (reflex). NCS in athletes usually occurs either as orthostasis-induced, due to a gravity-mediated reduced venous return to the heart, or in the context of exercise. Exercise-related NCS typically occurs after the cessation of an exercise bout, while syncope occurring during exercise is highly indicative of the existence of a cardiac disorder. Postexercise NCS appears to result from hypotension due to impaired postexercise vasoconstriction, as well as from hypocapnia. The mechanisms of postexercise hypotension can be divided into obligatory (which are always present and include sympathoinhibition, histaminergic vasodilation, and downregulation of cardiovagal baroreflex) and situational (which include dehydration, hyperthermia and gravitational stress). Regarding postexercise hypocapnia, both hyperventilation during recovery from exercise and orthostasis-induced hypocapnia when recovery occurs in an upright posture can produce postexercise cerebral vasoconstriction. Athletes have been shown to exhibit differential orthostatic responses compared with nonathletes, involving augmented stroke volume and increased peripheral vasodilation in the former, with possibly lower propensity to orthostatic intolerance.

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Assessment of Skeletal Muscle Contractile Properties by Radial Displacement: The Case for Tensiomyography

Abstract

Skeletal muscle operates as a near-constant volume system; as such muscle shortening during contraction is transversely linked to radial deformation. Therefore, to assess contractile properties of skeletal muscle, radial displacement can be evoked and measured. Mechanomyography measures muscle radial displacement and during the last 20 years, tensiomyography has become the most commonly used and widely reported technique among the various methodologies of mechanomyography. Tensiomyography has been demonstrated to reliably measure peak radial displacement during evoked muscle twitch, as well as muscle twitch speed. A number of parameters can be extracted from the tensiomyography displacement/time curve and the most commonly used and reliable appear to be peak radial displacement and contraction time. The latter has been described as a valid non-invasive means of characterising skeletal muscle, based on fibre-type composition. Over recent years, applications of tensiomyography measurement within sport and exercise have appeared, with applications relating to injury, recovery and performance. Within the present review, we evaluate the perceived strengths and weaknesses of tensiomyography with regard to its efficacy within applied sports medicine settings. We also highlight future tensiomyography areas that require further investigation. Therefore, the purpose of this review is to critically examine the existing evidence surrounding tensiomyography as a tool within the field of sports medicine.

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