Loser! On the combined impact of emotional and person-descriptive word meanings in communicative situations

Abstract

Humans have a unique capacity to induce intense emotional states in others by simple acts of verbal communication, and simple messages such as bad can elicit strong emotions in the addressee. However, up to now, research has mainly focused on general emotional meaning aspects and paradigms of low personal relevance (e.g., word reading), thereby possibly underestimating the impact of verbal emotion. In the present study, we recorded ERPs while presenting emotional words differing in word-inherent person descriptiveness (in that they may or may not refer to or describe a person; e.g., winner vs. sunflower). We predicted stronger emotional responses to person-descriptive words. Additionally, we enhanced the relevance of the words by embedding them in social-communicative contexts. We observed strong parallels in the characteristics of emotion and descriptiveness effects, suggesting a common underlying motivational basis. Furthermore, word-inherent person descriptiveness affected emotion processing at late elaborate stages reflected in the late positive potential, with emotion effects found only for descriptive words. The present findings underline the importance of factors determining the personal relevance of emotional words.

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Effect of nicotine on repeated bouts of anaerobic exercise in nicotine naïve individuals

Abstract

Purpose

Nicotine is a psychostimulant that is reported to be commonly supplemented by athletes. The purpose of the current study was to determine the effects of a rapidly absorbed form of nicotine on repeated bouts of anaerobic exercise, perception of exertion and a range of cardiovascular variables while monitoring side effect profiles.

Methods

Sixteen healthy, nicotine naïve male athletes (24.1 ± 5.3 years, 179.0 ± 8.8 cm, 81.7 ± 13.5 kg, BMI 25.5 ± 3.0, Body fat% 13.2 ± 5.1%) completed two repeated 30 s Wingate tests with 3 min rest between bouts following consumption of either a 5-mg oral-dispersible nicotine strip (NIC) or a flavour-matched placebo (PLA) in a randomised, double-blind, cross-over design. Before the Wingate test, resting heart rate and blood pressure were also measured prior to and following PLA and NIC ingestion.

Results

Peak and average power output were significantly greater following NIC administration compared to PLA (P < 0.01). Similarly, significant increases were also seen in heart rate and blood pressure following NIC administration compared to PLA (P < 0.01). No significant effect on pre-exercise side effect score, reaction time, rate of perceived exertion or post exercise blood lactate levels were observed (P > 0.05).

Conclusions

It was concluded that oral-dispersible nicotine strips increase repeated anaerobic performance, possibly through strong sympathetic stimulation, as evident by significant elevation of cardiovascular parameters.

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Face cooling reveals a relative inability to increase cardiac parasympathetic activation during passive heat stress

Abstract

We tested the hypothesis that passive heat stress attenuates the increase in cardiac parasympathetic stimulation, vascular resistance, and blood pressure evoked by face cooling. During normothermia and when intestinal temperature was elevated by 1.0 ± 0.2°C, eleven healthy young adults underwent 3 min of face cooling. Face cooling was accomplished by placing a 2.5 L bag of ice water (0 ± 0°C) over the cheeks, eyes, and forehead. Primary variables included forehead skin temperature, mean arterial pressure, and systemic, forearm and cutaneous vascular resistances. Indices of heart rate variability in the time domain provided an index of cardiac parasympathetic activity. The magnitude of reductions in forehead skin temperature during face cooling was slightly greater during normothermia (−17.6 ± 1.9°C vs. −16.3 ± 3.0°C, P = 0.03). Increases in heart rate variability evoked by face cooling were attenuated during heat stress. Changes in systemic, forearm, and cutaneous vascular resistances during face cooling were virtually abolished lower during heat stress (P < 0.01). However, when forearm and vascular data were reported as conductance, differences between normothermia and heat stress were not apparent (P ≥ 0.62). Nevertheless, the increase in mean arterial pressure was attenuated during heat stress with face cooling (at 3 min: 2 ± 7 mmHg) compared to normothermia (at 3 min: 19 ± 7 mmHg, P < 0.01). These data indicate that passive heat stress attenuates face cooling evoked increases in cardiac parasympathetic activation, vascular resistance, and blood pressure. However, they also indicate that changes in indices of vascular resistance do not always reflect equivalent changes in conductance.

This article is protected by copyright. All rights reserved

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Screen for Slit/Robo signaling in trunk neural cells reveals new players

Publication date: June 2018
Source:Gene Expression Patterns, Volume 28
Author(s): Darwin Martinez, Nora Zuhdi, Michelle Reyes, Blanca Ortega, Dion Giovannone, Vivian M. Lee, Maria Elena de Bellard
Slits ligands and their Robo receptors are involved in quite disparate cell signaling pathways that include axon guidance, cell proliferation, cell motility and angiogenesis. Neural crest cells emerge by delamination from neural cells in the dorsal neural tube, and give rise to various components of the peripheral nervous system in vertebrates. It is well established that these cells change from a non-migratory to a highly migratory state allowing them to reach distant regions before they differentiate. However, but the mechanism controlling this delamination and subsequent migration are still not fully understood. The repulsive Slit ligand family members, have been classified also as true tumor suppressor molecules. The present study explored in further detail what possible Slit/Robo signals are at play in the trunk neural cells and neural crest cells by carrying out a microarray after Slit2 gain of function in trunk neural tubes. We found that in addition to molecules known to be downstream of Slit/Robo signaling, there were a large set of molecules known to be important in maintaining cells in non-motile, epithelia phenotype. Furthermore, we found new molecules previously not associated with Slit/Robo signaling: cell proliferation markers, Ankyrins and RAB intracellular transporters. Our findings suggest that neural crest cells use and array of different Slit/Robo pathways during their transformation from non-motile to highly motile cells.



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Are graft-versus-host-disease patients missing out on the vital occupational therapy services? a systematic review

The aim of this review is to show the importance of occupational therapy/hand therapy for chronic graft-versus-host-disease (GVHD) patients and to outline the current state of the literature. GVHD of the hand can cause functional loss, reduced activities of daily life, poor social interaction, and loss of income because of limitations in work. Hand therapy, which is a specialty practised by both occupational therapists and physical therapists, has been proven to be an effective approach for hand-related musculoskeletal disorders; however, the literature search suggests that it is an underutilized specialty around the world. An electronic search was performed from 1997 to 2017 using OneFile (GALE), Medline/PubMed (NLM), Scopus (Elsevier), Science Citation Index Expanded (Web of Science), ProQuest Central (New), ProQuest Hospital Collection, Health Reference Center Academic (Gale), Health Research Premium Collection, Science Direct Journals (Elsevier), ProQuest Health & Medical Complete, Medical Database, Wiley Online Library, and SciTech Premium Collection for the period from 1994 to April 2017. Only randomized-controlled trials involving occupational therapy or hand therapy in patients with chronic hand GVHD were included in the final analysis. The search was limited to articles in English. Two reviewers independently assessed the methodological quality and extracted the data. The JADAD scoring method was used to score the articles. After the duplicates were excluded, 5466 articles were identified by the electronic database search for screening, out of which 5465 articles were excluded after reviewing. One article was further excluded on obtaining the full text as it was a case study. Hand therapy specialty, although a vital part of the recovery process for the patients with hand GVHD, is an underutilized specialty and well-designed trials are urgently needed for musculoskeletal hand GVHD, especially for focused hand therapy interventions. Correspondence to Hadeel R. Bakhsh, OT, PhD, Rehabilitation Department, Princess Nourah bint Abdul Rahman University, Airport Road, Riyadh 11642, Saudi Arabia Tel: +966 550 547 722; fax: +966 114 647 272; e-mail: hadeel@mail.net.sa Received November 29, 2017 Accepted January 24, 2018 Copyright © 2018 Wolters Kluwer Health, Inc. All rights reserved.

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Paving the way for disorders of consciousness diagnosis and prognosis: the role of cardiac autonomic response and beyond

Following coma due to severe brain injury, a patient can wake up or progress into an Unresponsive wakefulness syndrome (UWS) or Minimally Conscious State (MCS). These entities are characterized by preserved wakefulness and completely (UWS) or partially (MCS) impaired awareness. The functional and behavioral outcome of these patients is rather difficult to predict, as many factors come into play, including the type and severity of brain injury and, in particular, the level of awareness, which is assessed by using specific clinical scales that quantify the behavioral responsiveness (e.g., the Coma Recovery Scale-Revised).

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Measuring Use of Evidence Based Psychotherapy for Posttraumatic Stress Disorder in a Large National Healthcare System

Abstract

To derive a method of identifying use of evidence-based psychotherapy (EBP) for post-traumatic stress disorder (PTSD), we used clinical note text from national Veterans Health Administration (VHA) medical records. Using natural language processing, we developed machine-learning algorithms to classify note text on a large scale in an observational study of Iraq and Afghanistan veterans with PTSD and one post-deployment psychotherapy visit by 8/5/15 (N = 255,968). PTSD visits were linked to 8.1 million psychotherapy notes. Annotators labeled 3467 randomly-selected psychotherapy notes (kappa = 0.88) to indicate receipt of EBP. We met our performance targets of overall classification accuracy (0.92); 20.2% of veterans received ≥ one session of EBP over the study period. Our method can assist with identifying EBP use and studying EBP-associated outcomes in routine clinical practice.

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Association Between Obstetric Provider’s Advice and Gestational Weight Gain

Abstract

Objective This study examined associations between pregnant women's report of obstetric provider GWG advice, self-reported adherence to such advice, and GWG. Methods Healthy pregnant women (N = 91) who started obstetric care prior to 17 weeks of gestation completed assessments between 30 and 34 weeks of gestation. These included survey (questions on receipt of and adherence to provider GWG advice, and demographics) and anthropometric measures. GWG data were abstracted from electronic health records. Analyses included Chi square and Mann–Whitney tests, and binary and multivariate logistic regressions. Results The cohort's median age was 28 years, 68% of women were White, 78% had a college education, 50.5% were overweight or obese before the pregnancy, and 62.6% had GWGs above the Institute of Medicine-recommended ranges. Sixty-seven percent of women reported having received GWG advice from their obstetric providers and, of those, 54.1% reported that they followed their provider's advice. Controlling for race, education and pre-pregnancy BMI, receipt of GWG advice was marginally associated with increased odds of excessive weight gain (OR 2.52, CI 0.89–7.16). However, women that reported following the advice had lower odds of excessive GWG (OR 0.18, CI 0.03–0.91) and, on average, gained 11.3 pounds less than those who reported following the advice somewhat or not at all. Conclusions Frequency of GWG advice from obstetric providers is less than optimal. When given and followed, provider advice may reduce the risk of excessive GWG. Research to understand factors that facilitate providers GWG advice giving and women's adherence to providers' advice, and to develop interventions to optimize both, is needed.

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Relation between lactic acid and base excess during muscular exercise

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Complete mitochondrial genome of freshwater goby Rhinogobius cliffordpopei (Perciformes, Gobiidae): genome characterization and phylogenetic analysis

Abstract

Freshwater gobies Rhinogobius cliffordpopei and R. giurinus are invasive species with particular concern because they have become dominant and were fierce competitors in the invaded areas in Yunnan-Guizhou Plateau (southwest of China). Information about genetic characteristics of R. giurinus have been published, but there were still no relevant reports about R. cliffordpopei. In present study, the complete mitochondrial genome of R. cliffordpopei was determined, which was 16,511 bp in length with A + T content of 51.1%, consisting of 13 protein-coding genes, 22 tRNAs, 2 ribosomal RNAs, and a control region. The gene composition and the structural arrangement of the R. cliffordpopei complete mtDNA were identical to most of other teleosts. Phylogenetic analyses placed R. cliffordpopei in a well-supported monophyletic cluster with other Rhinogobius fish. But the phylogenetic relationship between genus Rhinogobius and Tridentiger remained to be resolved.

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Virtual reality for upper limb rehabilitation in sub-acute and chronic stroke: a randomized controlled trial

Publication date: Available online 14 February 2018
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Pawel Kiper, Andrzej Szczudlik, Michela Agostini, Jozef Opara, Roman Nowobilski, Laura Ventura, Paolo Tonin, Andrea Turolla
ObjectiveTo evaluate the effectiveness of reinforced feedback in virtual environment (RFVE) treatment combined with conventional rehabilitation (CR) in comparison with CR alone, and to study whether changes are related to stroke aetiology (i.e. ischemic or hemorrhagic).DesignRandomized controlled trial.SettingInpatients in a hospital facility for intensive rehabilitation.Participants136 patients within one year from onset of a single stroke.InterventionsThe experimental treatment was based on the combination of RFVE with CR, while control treatment was based on the same amount of CR. Both treatments lasted 2 hours daily, 5 days a week, for 4 weeks.Main Outcome MeasuresFugl-Meyer upper extremity (F-M UE) scale (primary outcome), Functional Independence Measure (FIM), National Institutes of Health Stroke Scale (NIHSS), and Edmonton Symptom Assessment Scale (ESAS) (secondary outcomes). Kinematic parameters of requested movements: duration (Time), mean linear velocity (Speed), number of submovements (Peak) (secondary outcomes).Results136 patients (ischemic=78, hemorrhagic=58) were randomized in two groups (RFVE=68, CR=68) and stratified by stroke aetiology (ischemic, hemorrhagic). Both groups improved after treatment, but the experimental group had better results than the control group (Mann-Whitney U test) at: F-M UE (p<0.001), FIM (p<0.001), NIHSS (p≤0.014), ESAS (p≤0.022), Time (p<0.001), Speed (p<0.001), Peak (p<0.001). Stroke aetiology did not have significant effects on patient outcomes.ConclusionThe RFVE therapy combined with CR treatment promotes better outcomes for upper limb than the same amount of CR, regardless of stroke aetiology (Clinical Trial Registration – NCT01955291).



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Toward a meaningful definition of recovery after hip fracture: Comparing two definitions for community-dwelling older adults

Publication date: Available online 14 February 2018
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Mohammad Auais, Suzanne N. Morin, Lois Finch, Sara Ahmed, Nancy Mayo
ObjectivesTo examine the course of recovery and resulting health-related quality of life (HRQL) after low-trauma hip fracture using two different definitions of recovery.DesignInception cohort with eight assessments over one year.SettingParticipants were recruited from a tertiary-care hospital and followed in the community.InterventionNot applicableParticipants47 (75% of all eligible) community-dwelling hip fracture patients (≥65 years).Main Outcome MeasuresPre-fracture functional level was used to identify subgroups of participants with similar trajectories of mobility over time. Recovery in functional mobility was defined in two ways: the "traditional" definition (return to pre-fracture level of functional mobility) and a "targeted recovery" definition (ability to climb 10 steps); both were measured using the Lower Extremity Functional Scale. HRQL was measured using the RAND-36.ResultsParticipants were categorized into three subgroups: low, medium, and high pre-fracture functional abilities. Agreement between the two definitions of recovery (quantified using Kappa coefficient) was strong for the medium group (0.81; 95% CI: 0.56-1.00), weak for the high group (0.46; 95% CI: 0.0-0.99), and minimal for the low group (0.12; 95% CI: 0.0-0.328).Contrary to the traditional definition, patients who achieved targeted recovery had statistically and clinically better HRQL than the rest of the cohort throughout the study (estimated average difference =10.8 points on RAND-36; 95% CI: 6.67-15.07).ConclusionThe agreement between the two definitions of recovery ranged from minimal to strong according to patient group. Using a functional target to define recovery predicted HRQL better. It is vital to consider the definition of recovery carefully for research or clinical practice because it can influence subsequent decisions (e.g. endorsing a specific intervention or discharging patients).



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Unperturbed, high spatial resolution measurement of Radon-222 in soil-gas depth profile

Publication date: Available online 15 February 2018
Source:Journal of Environmental Radioactivity
Author(s): K. Mitev, Ch. Dutsov, S. Georgiev, T. Boshkova, D. Pressyanov
This work presents a method for measuring the depth distribution of ²²²Rn activity in soil gas. The method is based on the capacity of polycarbonates to absorb ²²²Rn and on the possibility of performing sensitive measurements of ²²²Rn absorbed by the polycarbonates via liquid scintillation counting (LSC). The method is the following: cylindrical holes are drilled along a metal rod and Makrofol^® N polycarbonate foils enclosed in polyethylene envelopes are placed in each hole. The rod is driven into the soil and kept for a certain time. As long as the rod is in the soil, the polycarbonate foils are exposed to the ²²²Rn concentration at their depth. At the end of the exposure the rod is pulled out and the foils are transferred to liquid scintillation (LS) vials filled with liquid scintillator. The ²²²Rn absorbed in the foils is then measured with a LS analyzer. The rod with the polycarbonate foils acts as a passive probe which senses the ²²²Rn concentration at different depths beneath the ground surface. The achievable minimum detectable ²²²Rn activity concentration with the equipment and conditions used in this study is around 12.5 kBq/m³. It can easily be lowered below 1 kBq/m³ if larger foils and low-background LS analyzers are used. Since the method does not require air sampling the depth distribution of ²²²Rn in the soil is unperturbed by the sampling. The spatial distribution and the maximum measurement depth are set by the distance between the holes and the depth to which the rod can be fixed into the ground. Results from in situ applications of the method in terrains with high ²²²Rn in soil-gas are reported, which demonstrate the feasibility and the usefulness of the proposed approach.



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Anticipatory stress associated with functional magnetic resonance imaging: Implications for psychosocial stress research

Publication date: Available online 14 February 2018
Source:International Journal of Psychophysiology
Author(s): Ethan W. Gossett, Muriah D. Wheelock, Adam M. Goodman, Tyler R. Orem, Nathaniel G. Harnett, Kimberly H. Wood, Sylvie Mrug, Douglas A. Granger, David C. Knight
Stress tasks performed during functional magnetic resonance imaging (fMRI) elicit a relatively small cortisol response compared to stress tasks completed in a traditional behavioral laboratory, which may be due to apprehension of fMRI that elicits an anticipatory stress response. The present study investigated whether anticipatory stress is greater prior to research completed in an MRI environment than in a traditional behavioral laboratory. Anticipatory stress (indexed by cortisol) was greater prior to testing in the MRI environment than traditional behavioral laboratory. Furthermore, anticipation of fMRI elicited a cortisol response commensurate with the response to the stress task in the behavioral laboratory. However, in the MRI environment, post-stress cortisol was significantly lower than baseline cortisol. Taken together, these findings suggest the stress elicited by anticipation of fMRI may lead to acute elevations in cortisol prior to scanning, which may in turn disrupt the cortisol response to stress tasks performed during scanning.



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Prevalence and risk factors for neural axis anomalies in idiopathic scoliosis: a systematic review.

There is ongoing controversy about the routine use of magnetic resonance imaging (MRI) preoperatively in patients with presumed idiopathic scoliosis (IS). Routine MRI can help identify possible causes for the deformity and detect anomalies which could complicate deformity surgery. However, routine MRI increases health care costs significantly and may reveal mild variations from normal without clinical relevance, that can still lead to anxiety and influence decision making.

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Short-term outcomes following posterior cervical fusion among octogenarians with cervical spondylotic myelopathy: a NSQIP database analysis

Context: Degenerative changes in the cervical spine occur in an age-dependent manner. As the U.S. population continues to age, the incidence of age-dependent, multi-level, degenerative cervical pathologies is expected to increase. Similarly, the average age of patients with cervical spondylotic myelopathy (CSM) will likely trend upward. Posterior cervical fusion (PCF) is often the treatment modality of choice in the management of multi-level cervical spine disease. Although outcomes following anterior cervical fusion for degenerative disease have been studied among older patients (aged 80 years and older), it is unknown if these results extend to octogenarian patients undergoing PCF for the surgical management of CSM.

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Back pain improves significantly following discectomy for lumbar disc herniation

Although lumbar disc herniation (LDH) classically presents with lower extremity radiculopathy, there are patients who have substantial associated back pain

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Can the use of a single integrated unitary autonomic index provide early clues for eventual eligibility for olympic games?

Abstract

Purpose

Optimal autonomic regulation and stress resilience might be considered critical elements of athletic performance. We hypothesize that a novel unitary autonomic index for sports (ANSIs), together with a somatic stress related symptom score (4SQ) might help characterize athletes who were eventually selected for the Rio 2016 Olympic Games Italian team (Rio +).

Methods

In this retrospective study we examined 778 athletes (age 24.4 ± 6.7 yrs) who underwent a planned yearly pre-participation screening. All athletes underwent clinical, autonomic and exercise ECG evaluation. The combination of vagal and sympathetic indices from RR variability into ANSIs was performed by radar plot and percent ranking of index variables. We assessed (Rio +) versus (Rio −) athletes also after subdivision into three sport intensity groups (low, mid and high intensity).

Results

Overall there were no significant differences between (Rio +) and (Rio −) athletes when considering individual spectral derived variables. Conversely, the unitary Index ANSIs was significantly higher in (Rio +) compared to (Rio −) athletes (respectively 54.5 ± 29.5 and 47.9 ± 28.4 p = 0.014). This difference was particularly evident (p = 0.017) in the group of athletes characterized by both high static and dynamic components. 4SQ was smaller in the (Rio +) group, particularly in the groups of athletes characterized by both low-medium static and dynamic components.

Conclusions

ANSIs, a proxy of integrated cardiac autonomic regulation and simple assessment of resilience to stress, may differentiate Italian athletes who were eventually selected for participation in the 2016 Rio Olympic Games from those who were not, suggesting the possibility of a "winning functional phenotype".

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Cardiac autonomic responses to nociceptive stimuli in patients with chronic disorders of consciousness

Chronic disorders of consciousness (DOC) following a severe brain injury are characterized by dissociation between arousal and awareness, the two fundamental dimensions of consciousness (Bernat, 2006). Within these disorders, the historical term "vegetative state" (VS) (Jennett and Plum, 1972) was coined to describe a clinical condition in which patients do retain visceral autonomic regulation and brainstem control of cardiopulmonary function in the absence of any signs of awareness (Plum and Posner, 2007).

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Isaacs syndrome: a slow potassium channelopathy caused by autoantibodies?

Isaacs syndrome is the most well-known autoimmune peripheral nerve hyperexcitability (PNH) syndrome (Ahmed and Simmons, 2015). Clinically, patients with Isaacs syndrome are characterized by visible myokymia at rest and by doublet, triplet, or multiplet single unit discharges in needle electromyography (nEMG) (Newsom-Davis and Mills, 1993). Antibodies against voltage-gated potassium channels (VGKC), which suppress the function of fast potassium channels (Kv1), have been detected in some patients with the syndrome (approximately 38%–50%).

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Issue Information

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Prior ingestion of exogenous ketone monoester attenuates the glycemic response to an oral glucose tolerance test in healthy young individuals

Abstract

The main objectives of this study were threefold: (1) To determine whether acute ingestion of K_me; (R)-3-hydroxybutyl (R)-3-hydroxybutyrate impacts plasma glucose levels during a standardized oral glucose tolerance test (OGTT). (2) To compare changes in insulin concentrations and estimates of insulin sensitivity after acute K_me supplementation. Twenty healthy participants (n = 10 males/females) aged between 18–35 years took part in a randomized crossover study. After an overnight fast, participants consumed a K_me supplement (ΔG®; 0.45 ml kg⁻¹ body weight) or placebo (water) 30 min before completing a 75-gram OGTT. Blood samples were collected every 15–30 min over a period of 2.5 h. Participants and study personnel performing laboratory analyses were blinded to condition. K_me acutely raised blood D-beta-hydroxybutyrate (β-OHB) to 3.2±0.6 mm within 30 min with levels remaining elevated throughout the entire OGTT. Compared to placebo, K_me significantly decreased glucose area under the curve (AUC; −16%, P = 0.001), non-esterified fatty acid (NEFA) AUC (-44%, P < 0.001) and C-peptide incremental AUC (P = 0.005), while improving oral glucose insulin sensitivity index by ∼11% (P = 0.001). In conclusion, a K_me supplement that acutely increased β-OHB levels up to ∼3 mm attenuated the glycemic response to an OGTT in healthy humans. The reduction in glycemic response did not appear to be driven by an increase in insulin secretion, but was accompanied by improved markers of insulin sensitivity. These results suggest that ketone monoester supplements could have therapeutic potential in the management and prevention of metabolic disease.

This article is protected by copyright. All rights reserved

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De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies

Myelin Regulatory Factor (MYRF) is a transcription factor that has previously been associated with the control of the expression of myelin-related genes. However, it is highly expressed in human tissues and mouse embryonic tissues outside the nervous system such as the stomach, lung, and small intestine. It has not previously been reported as a cause of any Mendelian disease. We report here two males with Scimitar syndrome [MIM 106700], and other features including penoscrotal hypospadias, cryptorchidism, pulmonary hypoplasia, tracheal anomalies, congenital diaphragmatic hernia, cleft spleen, thymic involution, and thyroid fibrosis. Gross neurologic functioning appears to be within normal limits. In both individuals a de novo variant in MYRF was identified using exome sequencing. Neither variant is found in gnomAD. Heterozygous variants in MYRF should be considered in patients with variants of Scimitar syndrome and urogenital anomalies.

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Gratitude, protective buffering, and cognitive dissonance: How families respond to pediatric whole exome sequencing in the absence of actionable results

Clinical genome and exome sequencing (CGES) may identify variants leading to targeted management of existing conditions. Yet, CGES often fails to identify pathogenic diagnostic variants and introduces uncertainties by detecting variants of uncertain significance (VUS) and secondary findings. This study investigated how families understand findings and adjust their perspectives on CGES. As part of NIH's Clinical Sequencing Exploratory Research Consortium, children were recruited from clinics at the Children's Hospital of Pennsylvania (CHOP) and offered exome sequencing. Primary pathogenic and possibly pathogenic, and some secondary findings were returned. Investigators digitally recorded results disclosure sessions and conducted 3-month follow up interviews with 10 adolescents and a parent. An interdisciplinary team coded all transcripts. Participants were initially disappointed with findings, yet reactions evolved within disclosure sessions and at 3-month interviews toward acceptance and satisfaction. Families erroneously expected, and prepared extensively, to learn about risk for common conditions. During disclosure sessions, parents and adolescents varied in how they monitored and responded to each others reactions. Several misinterpreted, or overestimated, the utility of findings to attribute meaning and achieve closure for the CGES experience. Participants perceived testing as an opportunity to improve disease management despite results that did not introduce new treatments or diagnoses. Future research may examine whether families experience cognitive dissonance regarding discrepancies between expectations and findings, and how protective buffering minimizes the burden of disappointment on loved ones. As CGES is increasingly integrated into clinical care providers must contend with tempering family expectations and interpretations of findings while managing complex medical care.

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Cover Image, Volume 176A, Number 3, March 2018

The cover image, by Kei Tamai et al., is based on the Clinical Report Fetal ultrasonographic findings including cerebral hyperechogenicity in a patient with non-lethal form of Raine syndrome, DOI: 10.1002/ajmg.a.38598.

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Making a (cautious) case for expanding reproductive genetic carrier screens

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Publication schedule for 2018

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Table of Contents, Volume 176A, Number 3, March 2018

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In this issue

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Head position affects the direction of occlusal force during tapping movement

Abstract

Background

Despite numerous reports describing the relationship between head position and mandibular movement in human subjects, the direction and magnitude of force at the occlusal contacts have not been investigated in relation to head position.

Objective

To investigate the effect of head position on the direction of occlusal force while subjects performed a tapping movement.

Methods

Twenty-three healthy adult subjects were asked to sit on a chair with their back upright and to perform 15 tapping movements in five different head positions: natural head position (control); forward; backward; and right and left rolled. The direction and magnitude of force were measured using a small triaxial force sensor. The Wilcoxon signed rank test and Bonferroni test were used to compare head positions in each angle of the anteroposterior axis direction, and the lateral axis direction with respect to the superior axis.

Results

The force element in the anteroposterior axis shifted to the forward direction in the head position pitched backward, compared with control, pitched forward, and rolled left positions (P = 0.02, < 0.01 and < 0.01, respectively). The force direction in the lateral axis with the head position rolled to the right or left shifted to the left and right directions, respectively, compared with those in the other positions (P<0.05).

Conclusion

Results of this study suggest that the head should be maintained in a position in which a stable tapping movement can be performed in a relaxed position without anteroposterior and lateral loading.

This article is protected by copyright. All rights reserved.

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Effects of glucosamine supplements on painful temporomandibular joint osteoarthritis: a systematic review

Abstract

Objective

To systematically review the literature for studies that assessed the effects of glucosamine supplements (GS) on pain and maximum mouth opening (MMO) restriction compared to other therapies, placebo, or no intervention on painful temporomandibular joint osteoarthritis (TMJ OA).

Methods

Randomized controlled trials were selected in a two-phase process. Seven electronic databases, in addition to three grey literature databases, were searched. Risk of bias was assessed using the Cochrane Collaboration's tool for assessing risk of bias in randomized trials.

Results

Twelve potentially eligible studies were identified, from which three were finally included. Furthermore, two were categorized at low risk and one at high risk of bias. Intervention groups were treated with glucosamine-sulfate, while controls were treated with placebo or ibuprofen. In two studies, GS were equally effective regarding pain reduction and mouth opening improvement compared to ibuprofen taken two or three times a day over 12 weeks; however, one study did not find significant differences in follow-up evaluations concerning these clinical variables in both glucosamine and placebo groups administered over six weeks.

Conclusions

There is very low evidence regarding GS therapeutic effects on TMJ OA. Considering a follow-up of 12 weeks, GS were as effective as ibuprofen taken two or three times a day. However, over six weeks of medication intake, GS were not superior to placebo. Still, included studies presented major drawbacks, and therefore conclusions must be interpreted with caution.

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Randomized clinical trial of patient satisfaction with traditional and simplified complete dentures

Abstract

Aim

To clinically evaluate the patient satisfaction and associated costs of dentures made using a simplified procedure that eliminates assembly on the articulator and dentures made with the conventional technique.

Materials and Methods

Single-blind randomized clinical trial. Forty edentulous patients were randomly divided into two groups. One group received dentures made using the conventional method (CG) and the other using a simplified technique (SG) that omits the use of functional impressions (with modeling compound and ZOE impression paste) and an articulator to assemble the models. Overall patient satisfaction was assessed at 3 and 6 months by means of a Numerical Rating Scale (NRS). The comparisons were done using a repeated measures ANOVA (p=0.05).

Result

No significant differences were found in terms of the satisfaction stated by the patients or the quality of the prosthesis evaluated by a professional among the dentures made using the traditional (n=17) and simplified (n=21) techniques.

Conclusion

The rehabilitation of an edentulous patient with a simplified technique for the preparation of a total prosthesis is a feasible, more economical alternative and accepted by most patients.

This article is protected by copyright. All rights reserved.

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Issue Information

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Cover Image

The cover image, by Y. I. Sumita et al., is based on the Original Article Digitised evaluation of speech intelligibility using vowels in maxillectomy patients, DOI: 10.1111/joor.12595.

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Cardiac autonomic responses to nociceptive stimuli in patients with chronic disorders of consciousness

Publication date: Available online 14 February 2018
Source:Clinical Neurophysiology
Author(s): Eleonora Tobaldini, Edgar Toschi-Dias, Pietro Davide Trimarchi, Nicola Brena, Angela Comanducci, Silvia Casarotto, Nicola Montano, Guya Devalle
ObjectivesPatients with chronic disorders of consciousness (DOC) may show alterations of autonomic function; however, in this clinical population, no data are available on the specific effects of nociceptive stimuli on cardiac autonomic control. Thus, we aimed at investigating the effects of a noxious stimulation on heart rate variability (HRV) in a population of patients with chronic DOC, taking into account different states of consciousness (vegetative state/unresponsive wakefulness syndrome, VS/UWS and minimally conscious state, MCS).MethodsWe enrolled twenty-four DOC patients (VS/UWS, n=12 and MCS, n=12). ECG and respiration were recorded during baseline, immediately after the nociceptive stimulus and, finally, during the recovery period. Linear and nonlinear HRV measures were used to evaluate the cardiac autonomic control.ResultsIn DOC patients, nonlinear HRV analysis showed that nociceptive stimuli are able to elicit a change of autonomic function characterized by an increased sympathetic and a reduced vagal modulation. A significant reduction of autonomic complexity has also been detected. More interestingly, VS/UWS patients showed a less complex dynamics compared to MCS patients.ConclusionsCardiac autonomic responses are able to significantly differentiate the autonomic function between VS/UWS and MCS patients.SignificanceNonlinear HRV analysis may represent a useful tool to characterize the cardiac autonomic responses to nociceptive stimuli in a chronic DOC population.



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Isaacs syndrome: a slow potassium channelopathy caused by autoantibodies?

Publication date: Available online 15 February 2018
Source:Clinical Neurophysiology
Author(s): Tomoko Nakazato, Yukiko Tsuji, Kazuaki Kanai, Yu-ichi Noto, Yasunobu Hoshino, Kazuo Yamashiro, Kazumasa Yokoyama, Kenya Nishioka, Yasushi Shimo, Osamu Watanabe, Toshiki Mizuno, Nobutaka Hattori




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