I do not particularly enjoy farewells. Speeches. Letters. Parties. Even writing a "my time is over" editorial, like this one. Which probably explains why I am so fascinated by the topic of space. Space just never seems to end and that captures my imagination. You know, "Space, The Final Frontier. These are the voyages of the Starship Enterprise…etc., etc." I have to admit that I still watch on Netflix the re-run adventures of iconic Starship Captains Kirk, Picard, Sisko, Janeway, (and even Archer).
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Πέμπτη 22 Νοεμβρίου 2018
Final Episode (or Not)
Message from the Editor-in-Chief
This is a historic moment for PM&R. Volume 10, issue 12, wraps up our first decade of existence. In so many ways, PM&R has been a great success story: obtaining Index Medicus status at 6 months, first Impact Factor (IF) at year 4, highest IF to date in 2018 (1.850), steady increase in manuscript submissions, maintaining a healthy rejection rate, and providing unique and relevant article types simply not found in our competitor's journals.
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Dealing With Binary Repeated Measures Data
Many longitudinal studies and randomized trials have binary outcomes that can repeat. For example, in a study evaluating the safety of a new drug, researchers might record whether a subject developed an adverse reaction at multiple time points during follow-up. These observations are correlated and thus require statistical tests that handle correlated data. Several different statistical models can be applied; this article reviews the advantages and disadvantages of each approach.
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The Many Faces of Peroxisomal Disorders: Lessons from A Large Arab Cohort
Defects in the peroxisomes biogenesis and/or function result in peroxisomal disorders. In this study, we describe the largest Arab cohort to date (72 families) of clinically, biochemically and molecularly characterized patients with peroxisomal disorders. At the molecular level, we identified 43 disease‐causing variants, half of which are novel. The founder nature of many of the variants allowed us to calculate the minimum disease burden for these disorders in our population ~1:30,000, which is much higher than previous estimates in other populations. Clinically, we found an interesting trend towards genotype/phenotype correlation in terms of long‐term survival. Nearly half (40/75) of our peroxisomal disorders patients had documented survival beyond one year of age. Most unusual among the long‐term survivors was a multiplex family in which the affected members presented as adults with nonspecific intellectual disability and epilepsy. Other unusual presentations included the very recently described peroxisomal fatty acyl‐CoA reductase 1 disorder as well as CRSPW syndrome. We conclude that peroxisomal disorders are highly heterogeneous in their clinical presentation. Our data also confirm the demonstration that milder forms of Zellweger spectrum disorders cannot be ruled out by the "gold standard" VLCFA assay, which highlights the value of a genomics‐first approach in these cases.
This article is protected by copyright. All rights reserved.
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Genetic Risk Score modifies the effect of APOE on risk and age onset of Alzheimer’s disease
Single nucleotide polymorphism (SNP)‐based genetic risk score (GRS) and APOE genotype are both important in risk prediction of Alzheimer's disease (AD); however, the interaction between GRS and APOE has not been extensively investigated. Our objective was to determine whether GRS modifies the APOE effect on AD risk and age at onset (AAO). The study included 774 AD cases and 767 controls of European descent. Population standardized GRS was calculated based on 17 previously implicated AD risk‐associated SNPs. Association was analyzed using logistic regression, Cox proportional hazards model and Kaplan–Meier curve. We found that GRS was significantly associated with AD risk and the association was stronger among APOE ε4 carriers. Compared to ε4 non‐carriers, the Odds Ratio (OR) for AD was 8.09 (95% Confidence Interval [CI]: 4.98‐13.63) for ε4 carriers with high‐GRS (≥1.5). In contrast, the OR was 2.55 (95% CI: 1.46‐4.49) for ε4 carriers with low‐GRS (<0.6). In conclusion, these results suggest SNP‐based GRS may supplement APOE for better assessment of inherited risk and age of onset of AD.
This article is protected by copyright. All rights reserved.
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Genetics meets dna methylation in rare diseases
Alterations in epigenetic landscapes are hallmarks of many complex human diseases, yet, it is often challenging to assess the underlying mechanisms and causal link with clinical manifestations. In this regard, monogenic diseases that affect actors of the epigenetic machinery are of considerable interest to learn more about the etiology of complex traits. Spectacular breakthroughs in medical genetics are largely the result of advances in genome‐wide approaches to identify genomic and epigenomic alterations in patients. These approaches have enabled the identification of an ever‐increasing number of hereditary disorders caused by defects in the establishment of epigenetic marks early during development or in the perpetuation of such marks at later stages. We focus our review on particular cases where DNA methylation landscapes are altered at the genome scale, whether it is a direct consequence of mutations in DNA methyltransferases (DNMT) or that it reflects initial alterations of chromatin states or guiding factors caused by mutations in chromatin modifiers or transcription factors. Collectively, increased knowledge of these rare diseases will add to our understanding of the genetic determinants of DNA methylation in humans. Moreover, investigating how perturbations to these determinants affect genome function has far‐reaching potential to understand various complex human diseases.
This article is protected by copyright. All rights reserved.
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Oral health is a mediator for disease severity in patients with behcet's disease: a multiple mediation analysis study
Abstract
Objectives
The aim of the study was to examine whether oral health as an infection focus could mediate disease course in patients with Behçet's disease (BD).
Methods
In the study, oral health of 194 BD patients was examined at baseline and follow‐up periods. The reasons for last dental visits were recorded as tooth extraction or regular control visits/planned treatments at the end of follow‐up period. The Behçet's disease severity score was calculated with higher scores indicating a more severe course. Mediation analysis was carried out to assess the effects of oral health on disease severity score at follow‐up period in the study.
Results
Dental and periodontal indices were found to be higher at follow‐up visit compared to those of baseline (p<0.05). Disease severity score was found to be higher in males (5.3±2.4) compared to females (4.4±2.5) in the whole group (p=0.005). Moreover, patients having tooth extraction at their last dental visit and patients with dental caries had a more severe disease course (5.4±2.4; 5.5±2.5) compared to others (4.2±2.3; 4.4±2.4)(p<0.0001). In multiple mediation analysis, disease severity score was a dependent variable and was directly mediated by male gender (B=‐0.8822, p=0.0145) and indirectly mediated through the presence of dental caries (B=0.9509 p=0.0110) and need of tooth extraction (B=0.8758 p=0.0128).
Conclusion
Both presence of dental caries and need of tooth extraction were observed to be effective mediators for a more severe disease course in BD. Therefore, better oral health should be aimed to eliminate microbial factors, which are a part of pathogenic processes.
This article is protected by copyright. All rights reserved.
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Soluble transferrin receptor and soluble transferrin receptor/log ferritin index in diagnosis of iron deficiency anemia in pediatric inflammatory bowel disease
There is no single reliable marker of iron homeostasis in inflammatory bowel disease.
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Correlating structure with visual function in patients with multiple sclerosis: where is this leading?
Visual loss, particularly from optic neuritis (ON), is a major cause of disability in multiple sclerosis (MS). Determining the precise cause of the visual loss, what can be done to treat it and, indeed, what can be done to prevent it are major priorities in current clinical research. Over the last few decades, our understanding of the pathology in MS has shifted from a purely inflammation-based disease of axons in the white matter of the brain to a disorder which causes progressive degeneration of cells in the grey matter of the brain and in the ganglion cell layer of the retina.
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Dynamic Cerebral Autoregulation: A Marker of Post-Operative Delirium?
We investigated the potential association of cerebral autoregulation (CA) with postoperative delirium (PD), a common complication of cardiac surgery with cardiopulmonary bypass (CPB).
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Widening the phenotypical spectrum of EGR2-related CMT: unusual phenotype for R409W mutation
Mutations in EGR2 are associated with a wide spectrum of inherited neuropathies: congenital hypomyelinating (MIM 605253)/Dejerine-Sottas (MIM 1459000) syndromes, Charcot-Marie-Tooth type 1 D (CMT1D) (MIM 607678) with variable onset and severity (Shiga et al. 2012), CMT1 with susceptibility to vincristine (Nakamura et al. 2012), and mild adult-onset axonal CMT (Sevilla et al. 2015). Herein, we report a 46-year-old man who had presented, since his late thirties, a slowly progressive symmetric distal limb weakness and atrophy, associated with mild distal sensory loss.
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Clinical utility of cervical vestibular-evoked myogenic potentials in predicting residual dizziness after benign paroxysmal positional vertigo
Benign paroxysmal positional vertigo (BPPV) is one of the most common vestibular disorders with a lifetime prevalence of approximately 2.4% in the general population (von Brevern et al., 2007). Otoconial particles, which have fallen from otolith organs into semicircular canals, induce BPPV (Bhattacharyya et al., 2008). BPPV can be cured through appropriate canalith repositioning maneuvers (Fife et al., 2008; Helminski et al., 2010). However, despite clear pathogenesis and treatment, some patients still experience an imbalance after successful repositioning maneuvers.
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Filtering and other methodological issues of auditory N100 gating studies
As shown in my recent meta-analysis, the deficit of patients with schizophrenia in auditory N100 gating is characterized by a reduced N100 amplitude to the initial stimulus, as compared to controls, whereas the N100 amplitudes to repeated stimuli show little variation between patients and controls (Rosburg, 2018). In their comment to this study, Hsieh and Liu (2018) draw attention to three important methodological aspects, when conducting research on N100 gating.
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Points that need attention in auditory N100 gating research in schizophrenia
Publication date: Available online 22 November 2018
Source: Clinical Neurophysiology
Author(s): Ming H. Hsieh, Hong-Hsiang Liu
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Baboon vocal repertoires and the evolution of primate vocal diversity
Publication date: January 2019
Source: Journal of Human Evolution, Volume 126
Author(s): Kurt Hammerschmidt, Julia Fischer
Abstract
A remarkable and derived trait of humans is the faculty for language, and considerable research effort has been devoted to understanding the evolution of speech. In contrast to spoken language, which constitutes a (learned) symbolic communication system, the acoustic structure of nonhuman primate vocalizations is largely genetically fixed. Yet, appreciable differences between different genera and species may exist. Environmental conditions, sexual selection, and characteristics of the social system have been invoked to explain these differences. Here, we studied the acoustic variation of call types and vocal repertoires in the genus Papio. Because the genus comprises both stable groups as well as multi-level societies, and reveals striking variation in the degree of aggressiveness from south to north, it constitutes a promising model to assess the link between social system characteristics and vocal communication. We found that, the vocal repertoires of the different species were composed of the same general call types. A quantitative analysis of the acoustic features of the grunts and loud calls of chacma (Papio ursinus), olive (P. anubis), and Guinea (P. papio) baboons showed subtle acoustic differences within call types, however. Social system characteristics did not map onto acoustic variation. We found no correlation between the structure of grunts and geographic distance; the same was true for female loud calls. Only for male loud calls from three populations, call structure varied with geographic distance. Our findings corroborate the view that the structure of nonhuman primate vocalizations is highly conserved, despite the differences in social systems. Apparently, variation in rate and intensity of occurrence of signals, probably due to different behavioral dispositions in species, are sufficient to allow for plasticity at the level of the social relationships, mating patterns, and social organization.
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Can we feel like being neither alert nor sleepy? The electroencephalographic signature of this subjective sub-state of wake state yields an accurate measure of objective sleepiness level
Publication date: Available online 22 November 2018
Source: International Journal of Psychophysiology
Author(s): Arcady A. Putilov, Olga G. Donskaya, Evgeniy G. Verevkin
Abstract
Accurate measurement of objective level of sleepiness can have important implications for experimental and field studies of sleep deprived individuals. We proposed to accurately quantify changes in sleepiness level with single electroencephalographic (EEG) measures obtained from EEG spectra consisting of 16 spectral powers within the frequency interval from 1 to 16 Hz. The EEG signal was recorded every other hour from 19:00 of Friday to 19:00 of Sunday in 48 study participants. The differential spectra were calculated for the 1st minute with eyes closed as the differences between EEG spectra for pairs of distinct subjective sub-states (alert, neither alert nor sleepy, sleepy, and very sleepy sub-states scored on the Karolinska Sleepiness Scale as 3, 5, 7, and 9, respectively).The differential spectra were calculated for the sub-samples of those participants who succeeded and failed to succeed in completing all 25 EEG recording sessions (n = 25 and 23, respectively) and for the addition sample of 130 participants deprived from sleep for only one night. Single spectral EEG measures were then calculated by summation of 16 spectral powers weighted by a differential spectrum. The strongest correlation coefficients (0.981, 0.987, and 0.985) were attained between the time courses of subjective and objective measures when data on 130, 23 and 25 participants, respectively, were used for calculation of frequency waiting curve differentiating alert sub-sate either from sleepy sub-state or from neither alert nor sleepy sub-state. We recommended implementation of the proposed objective measure into experimental procedures requiring accurate estimation of objective sleepiness level.
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Monitoring multiple cortical regions during walking in young and older adults: Dual-task response and comparison challenges
Publication date: Available online 22 November 2018
Source: International Journal of Psychophysiology
Author(s): Samuel Stuart, Lisa Alcock, Lynn Rochester, Rodrigo Vitorio, Annette Pantall
Abstract
Performance of several tasks simultaneously (dual-tasks) is common in everyday walking. Studies indicate that dual-task walking performance declines with age together with cognitive function, but neural mechanisms underpinning deficits remain unclear. Recent developments in mobile imaging techniques, such as functional near infrared spectroscopy (fNIRS), allow real-time monitoring of cortical activity during walking. This study aimed to: 1) examine activity in motor and cognitive cortical regions when walking with a dual-task in young and older adults; and 2) determine the effect of cognition on dual-task cortical activity changes.
Seventeen young (20.3 ± 1.2 years) and eighteen older adults (72.6 ± 8.0 years) performed dual-task conditions, lasting 5 min, with alternating 30-second experimental blocks. The primary outcome was cortical activity, assessed by measuring changes in oxygenated haemoglobin (HbO2) concentrations. Cortical regions of interest (ROI) included motor regions (premotor cortex (PMC), supplementary motor area (SMA), primary motor cortex (M1)), and cognitive regions (prefrontal cortex (PFC)). Cognitive domains were assessed using standard tests and accelerometers were used to extract gait features.
Cortical activity increased with a dual-task in PMC, SMA and M1 but not in PFC regions across groups, with response most evident with initial task exposure. Older adults did not increase SMA activity with a dual-task to the same level as young adults. Dual-task cortical response was consistently associated with greater executive function across groups.
In conclusion, both young and older adults responded in a similar manner to dual-task conditions. Dual-task walking activated multiple motor regions in both groups, but no significant change occurred for cognitive region activation. Cortical activation with a dual-task related to executive function.
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Prognostic Value of Tissue Oxygen Monitoring and Regional Cerebral Oxygen Saturation Monitoring and Their Correlation in Neurological Patients With Sepsis: A Preliminary, Prospective, Observational Study
Background: There is paucity of literature on the prognostic value of tissue oxygen saturation (StO2) and regional cerebral oxygen saturation (rSO2) in neurological patients with sepsis. In this preliminary study, we investigated the prognostic value of StO2 and rSO2 in a group of neurological patients and correlated StO2 and rSO2 with hemodynamic and metabolic parameters. Materials and Methods: This preliminary, prospective observational study was conducted in 45 adult neurological patients admitted to intensive care unit. Once a diagnosis of sepsis or septic shock was established, parameters of oxygenation (StO2, rSO2, central venous oxygen saturation [ScvO2]), serum lactate, illness severity scores (Acute Physiology and Chronic Health Evaluation score, Sequential Organ Failure Assessment score, Glasgow Coma Scale) were recorded at 0, 6, 12, 24, 36, and 48 hours, and once daily thereafter. Outcomes were in-hospital mortality attributable to sepsis and the Glasgow outcome score at hospital discharge. Results: There was a moderately positive correlation between StO2 and rSO2 at baseline (r=0.599; P=0.001). StO2, illness severity scores and serum lactate, but not rSO2, were significantly different between survivors (n=29) and nonsurvivors (n=16) at baseline and during the first 48 hours. An rSO2 of 62.5% had a sensitivity of 83% and specificity of 67% to differentiate survivors and nonsurvivors of septic shock at 48 hours. StO2 had a higher correlation with ScvO2 and serum lactate than rSO2. Conclusions: StO2 prognosticates survival and favorable/unfavorable outcomes in neurological patients with sepsis. The role of rSO2 in predicting survival in milder form of sepsis is doubtful. The authors have no funding or conflicts of interest to disclose. Address correspondence to: Sonia Bansal, MD, DNB, PDF, Department of Neuroanaesthesia and Neurocritical Care, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore 560029, India (e-mail: itz.sonia77@gmail.com). Received February 13, 2018 Accepted October 4, 2018 Copyright © 2018 Wolters Kluwer Health, Inc. All rights reserved
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Predictive Factors for Hypotension Associated With Supine-to-Prone Positional Change in Patients Undergoing Spine Surgery
Background: Positional change during general anesthesia can cause hypotension. The objective of this retrospective study was to determine predictive factors for hypotension associated with supine-to-prone positional change in spinal surgery patients. Materials and Methods: Data on demographics, current medications, comorbidity, intraoperative mean arterial pressure (MAP), heart rate, pulse pressure variation, tidal volume, peak inspiratory pressure, and propofol and remifentanil effect-site concentrations were collected from 179 patients undergoing elective spine surgery. Hypotension associated with supine-to-prone positional change was defined as >20% reduction in MAP during positional change. Results: Hypotension associated with supine-to-prone positional change was observed in 16 (8.9%) patients. The median (interquartile range) effect-site concentration of remifentanil (5.3 [4.0 to 8.5] vs. 4.0 [3.1 to 4.0] ng/mL, P
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