Implementation of a Regional Perinatal Data Repository from Clinical and Billing Records

Abstract

Objectives To describe the implementation of the first phase of a regional perinatal data repository and to provide a roadmap for others to navigate technical, privacy, and data governance concerns in implementing similar resources. Methods Our implementation integrated regional physician billing records with maternal and infant electronic health records from an academic delivery hospital. These records, representing births during 2013–2015, constituted a data core supporting linkage to additional ancillary data sets. Measures obtained from pediatric follow-up, urgent care, emergency, and inpatient encounters were linked at the individual level as were measures obtained by home visitors during pre- and postnatal encounters. Residential addresses were geocoded supporting linkage to area-level measures. Results Integrated data contained regional billing records for 69,290 newborns representing approximately 81% of all regional live births and nearly 95% of live births in the region's most populous county. Billing records linked to 7293 infant delivery hospital records and 7107 corresponding maternal hospital records. Manual review demonstrated 100% validity of matches among audited records. Additionally, 2430 home visiting records were linked to the data core as were pediatric primary care, urgent care, emergency department, and inpatient visits representing 42,541 children. More than 99% of the newborn billing records were geocoded and assigned a census tract identifier. Conclusions for Practice Our approach to methodological and regulatory challenges affords opportunities for expansion of systems to integrate electronic health records originating from additional medical centers as well as individual- and area-level linkage to additional data sets relevant to perinatal health.

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Effect of age on Narcotrend Index monitoring during sevoflurane anesthesia in children below 2 years of age

Summary

Background

In older children, different electroencephalogram-based algorithms for measuring depth of anesthesia displayed a similar performance as in adults, but in infants they have not displayed the same reliability so far. According to the individual developmental state, the Narcotrend distinguishes "differentiated" electroencephalograms, which can be classified using the full Narcotrend Index scale, from "undifferentiated" electroencephalograms, which are classified using a scale with fewer stages.

Objective

The objective of this prospective clinical observational study was to assess the feasibility and performance of the Narcotrend monitor in children <2 years within a clinical setting.

Methods

Sixty-one children aged 0-24 months undergoing general anesthesia with sevoflurane and remifentanil for elective pediatric surgery were studied. We investigated the percentage of differentiated electroencephalograms and the correlation between multiples of minimal alveolar sevoflurane concentration and the Narcotrend Index according to age groups. Prediction probability was used to evaluate the performance of the Narcotrend Index for differentiation between consciousness and unconsciousness and between different sevoflurane concentrations.

Results

The percentage of differentiated electroencephalograms increased with increasing age (0-3 months: 23.8%, 4-5 months: 87.5%, 6-11 months: 92.3%, 12-24 months: 100%). The overall prediction probability of Narcotrend Index was 1.0 (SE 0.05) for differentiation between awake and loss of consciousness and 1.0 (SE 0.01) for differentiation between anesthetized and return of consciousness. Spearman correlation analysis revealed a significant negative correlation between sevoflurane concentration and the Narcotrend Index (r = −0.78, P < .0001, 95%CI: −0.81 to −0.74). Overall prediction probability of Narcotrend Index to sevoflurane concentration was 0.8 (95%CI: 0.78-0.82).

Conclusion

The Narcotrend monitor indicated a Narcotrend Index in most infants and young children starting from 4 months with significant correlation to and acceptable prediction probability for minimal alveolar sevoflurane concentration.

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Optogenetic dissection of roles of specific cortical interneuron subtypes in GABAergic network synchronization

Abstract

In the presence of the A-type K⁺ channel blocker 4-aminopyrdine, spontaneous synchronous network activity develops in the neocortex of mice of either sex. This aberrant synchrony persists in the presence of excitatory amino acid receptor antagonists (EAA blockers), and is thought to arise from synchronous firing of cortical interneurons (INs). Whereas much attention has been given to the mechanisms underlying this GABAergic synchrony, the contribution of specific IN subtypes to the generation of these long-lasting discharges (LLDs) is incompletely understood. We employed genetically-encoded channelrhodopsin and archaerhodopsin opsins to investigate the sufficiency and necessity, respectively, of activation of parvalbumin (PV), somatostatin (SST) and vasointestinal peptide (VIP)-expressing INs for the generation of synchronous neocortical GABAergic discharges. We found light-induced activation of PV or SST INs to be equally sufficient for the generation of LLDs, whereas activation of VIP INs was not. In contrast, light-induced inhibition of PV INs strongly reduced LLD initiation whereas suppression of SST or VIP IN activity only partially attenuated LLD magnitude. These results suggest neocortical INs perform cell type-specific roles in the generation of aberrant GABAergic cortical network activity.

This article is protected by copyright. All rights reserved

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Spatial information from cutaneous and muscle receptors contributes to perceived finger position and ownership

Abstract

There is little known about the physiological basis of how we know that our limbs are a part of our body. Our understanding of the mechanisms of body ownership has recently been strengthened by studies using the rubber hand illusion (RHI).

This article is protected by copyright. All rights reserved

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Adenosine A1 receptor activates background potassium channels and modulates information processing in olfactory bulb mitral cells

Abstract

Neuromodulation by adenosine is of critical importance in many brain regions, but the role of adenosine in olfactory information processing has not been studied so far. We investigated the effects of adenosine on mitral cells, which are projection neurons of the olfactory bulb. Significant expression of A₁ and A_2A receptors was found in mitral cells, as demonstrated by in situ hybridization. Application of adenosine in acute olfactory bulb slices hyperpolarized mitral cells in wild type, but not in adenosine A₁ receptor knockout mice. Adenosine-induced hyperpolarization was mediated by background K⁺ currents that were reduced by halothane and bupivacaine which are known to inhibit two-pore domain K⁺ (K2P) channels. In mitral cells, electrical stimulation of axons of olfactory sensory neurons evoked synaptic currents, which can be considered as input signal, while spontaneous firing independent of sensory input can be considered as noise. Synaptic currents were not affected by adenosine, while adenosine reduced spontaneous firing, leading to an increase in the signal-to-noise ratio of mitral cell firing. Our findings demonstrate that A₁ adenosine receptors activate two-pore domain K⁺ channels, which increases the signal-to-noise ratio of the input-output relationship in mitral cells and thereby modulates information processing in the olfactory bulb.

This article is protected by copyright. All rights reserved

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Contents

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Neurophysiology and cognitive reserve: A promising path

In the summer of 2017, a Lancet commission on Dementia prevention, intervention, and care (Livingston et al., 2017) identified nine risk factors for dementia that are potentially modifiable. Further, it estimated that if these nine factors are eliminated, one in three cases of dementia could be prevented. Among these nine factors, several are conceptually linked to cognitive reserve. Cognitive reserve refers to the brain capacity to cope with damage or diseases towards maintaining a stable level of function (Stern, 2002).

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Editorial Board

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Correlations between MUNIX and adapted multiple point stimulation MUNE methods

Motor unit number estimate (MUNE) usually represents the ratio of the maximal compound muscle action potential (CMAP) divided by the average surface-recorded motor unit potential (SMUP). MUNE techniques differ in how single motor units (MU) are obtained. McComas et al. (1971) introduced the first MUNE technique, referred as the incremental technique. Incremental stimulation was applied at one stimulation point on the nerve and the stimulus intensity was gradually increased from a subthreshold value until 11 increments in the muscle response were obtained.

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The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study

Publication date: January 2018
Source:Clinical Neurophysiology, Volume 129, Issue 1
Author(s): Gian Maria Fabrizi, Stefano Tamburin, Tiziana Cavallaro, Ilaria Cabrini, Moreno Ferrarini, Federica Taioli, Francesca Magrinelli, Giampietro Zanette
ObjectiveNerve ultrasound (US) data on myelin protein zero (MPZ)-related Charcot-Marie-Tooth disease (CMT) are lacking. To offer a comprehensive perspective on MPZ-related CMTs, we combined nerve US with clinics, electrodiagnosis and histopathology.MethodsWe recruited 36 patients (12 MPZ mutations), and correlated nerve US to clinical, electrodiagnostic measures, and sural nerve biopsy.ResultsAccording to motor nerve conduction velocity (MNCV) criteria, nine patients were categorized as "demyelinating" CMT1B, 17 as "axonal" CMT2I/J, and 10 as dominant "intermediate" CMTDID. Sural nerve biopsy showed hypertrophic de-remyelinating neuropathy with numerous complex onion bulbs in one patient, de-remyelinating neuropathy with scanty/absent onion bulbs in three, axonal neuropathy in two, mixed demyelinating-axonal neuropathy in five. Electrodiagnosis significantly differed in CMT1B vs. CMT2I/J and CMTDID subgroups. CMT1B had slightly enlarged nerve cross sectional area (CSA) especially at proximal upper-limb (UL) sites. CSA was negatively correlated to UL MNCV and not increased at entrapment sites. Major sural nerve pathological patterns were uncorrelated to UL nerve US and MNCV.ConclusionsSural nerve biopsy confirmed the wide pathological spectrum of MPZ-CMT. UL nerve US identified two major patterns corresponding to the CMT1B and CMT2I/J-CMTDID subgroups.SignificanceNerve US phenotype of MPZ-CMT diverged from those in other demyelinating peripheral neuropathies and may have diagnostic value.



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The insular cortex and QTc interval in HIV+ and HIV− individuals: Is there an effect of sympathetic nervous system activity?

Publication date: January 2018
Source:Clinical Neurophysiology, Volume 129, Issue 1
Author(s): Michiaki Nagai, Keigo Dote, Masaya Kato, Noboru Oda




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Contents

Publication date: January 2018
Source:Clinical Neurophysiology, Volume 129, Issue 1





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Cerebellum and dystonia: The story continues. Will the patients benefit from new discoveries?

Publication date: January 2018
Source:Clinical Neurophysiology, Volume 129, Issue 1
Author(s): Martin Bareš, Pavel Filip




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High-resolution ultrasound in patients with Wartenberg’s migrant sensory neuritis, a case-control study

Publication date: January 2018
Source:Clinical Neurophysiology, Volume 129, Issue 1
Author(s): Ingrid J.T. Herraets, H. Stephan Goedee, Johan A. Telleman, Jan-Thies H. van Asseldonk, Leo H. Visser, W. Ludo van der Pol, Leonard H. van den Berg
ObjectiveWartenberg's migrant sensory neuritis (WMSN) is a rare, patchy, pure sensory neuropathy of unknown etiology. High-resolution ultrasonography (HRUS) is an emerging diagnostic technique for neuropathies, but it has not been applied in WMSN. In this study we aimed to determine HRUS abnormalities in WMSN.MethodsWe performed a case-control study of 8 newly diagnosed patients with WMSN and 22 treatment-naive disease controls (16 patients with pure sensory axonal neuropathy and 6 with pure sensory chronic inflammatory demyelinating polyneuropathy (CIDP) or Lewis-Sumner syndrome (LSS)). All patients underwent routine diagnostic evaluations and a predefined HRUS protocol.ResultsWe found multifocal nerve enlargement in all 8 WMSN patients. The median nerve in the upper arm and the sural nerve were significantly larger in WMSN than in axonal controls (p = 0.01 and p = 0.04). In CIDP/LSS, sonographic enlargement was more extensive. Furthermore we found brachial plexus involvement in 3 of 8 (38%) WMSN patients.ConclusionHRUS showed enlargement of multiple nerves in all WMSN patients even if clinical testing and NCS were normal.SignificanceThe feature of multifocal nerve enlargement may be of additional value in establishing the diagnosis of WMSN and may support the suggestion of an auto-immune etiology.



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Oxyneurography: A non-invasive NIRS technique to measure nerve oxygenation

Publication date: January 2018
Source:Clinical Neurophysiology, Volume 129, Issue 1
Author(s): Joe F. Jabre




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Neurophysiology and cognitive reserve: A promising path

Publication date: January 2018
Source:Clinical Neurophysiology, Volume 129, Issue 1
Author(s): Tarek K. Rajji




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Editorial Board

Publication date: January 2018
Source:Clinical Neurophysiology, Volume 129, Issue 1





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Value of oxyneurography, based on near infrared spectroscopy, in the diagnosis of carpal tunnel syndrome in comparison to provocative clinical diagnostic tests and nerve conduction studies

Publication date: January 2018
Source:Clinical Neurophysiology, Volume 129, Issue 1
Author(s): Marlena Hupalo, Janusz Smigielski, Jan Fortuniak, Dariusz J. Jaskolski
ObjectiveEvaluation of the diagnostic utility of the oxyneurography (ONG) in diagnosing carpal tunnel syndrome (CTS).MethodsONG examination of the median nerve was performed in 260 patients. The results were compared with nerve conduction studies and clinical provocative tests.ResultsONG index greater than or equal to 62% was found in 95.18% of the patients with no or minimal Nerve Conduction Study (NCS) changes (1–2 according to the Padua classification) but only in 1.69% of the patients with advanced NCS changes (Padua 3–6). The sensitivity and specificity of the ONG study i.e. 95.18% and 98.31%, respectively, were compared with standard clinical tests: Tinel sign (61.45% and 14.69%), Phalen test (34.94% and 45.20%), reverse Phalen test (81.93% and 34.46%) and carpal compression test (91.57% and 72.32%).ConclusionsONG index lower than 62% was indicative of CTS. ONG has higher sensitivity and specificity then other clinical tests and it is an accurate and reliable method for the diagnosis of CTS.SignificanceOxyneurography is a non-invasive, fast and safe study which may play role in the diagnosis of carpal tunnel syndrome.



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Corrigendum to “Graph analysis of EEG resting state functional networks in dyslexic readers” [Clin. Neurophysiol. 127(9) (2016) 3165–3175]

Publication date: January 2018
Source:Clinical Neurophysiology, Volume 129, Issue 1
Author(s): G. Fraga González, M.J.W. Van der Molen, G. Žarić, M. Bonte, J. Tijms, L. Blomert, C.J. Stam, M.W. Van der Molen




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Bilateral early activity in the hip flexors associated with falls in stroke survivors: Preliminary evidence from laboratory-induced falls

Publication date: January 2018
Source:Clinical Neurophysiology, Volume 129, Issue 1
Author(s): Dmitrijs Celinskis, Mark D. Grabiner, Claire F. Honeycutt
ObjectiveFalls are the most common and expensive medical complication following stroke. Hypermetric reflexes have been suggested to impact post-stroke balance but no study has evaluated reflex amplitudes under real conditions of falls in this population. Our objective was to quantify the early reflexive responses during falls induced in the laboratory.MethodsSixteen stroke survivors were exposed to posteriorly directed treadmill perturbations that required a forward step to maintain a balance. Perturbations differed in terms of treadmill translation displacement, velocity, and acceleration. EMG amplitudes were compared between Fall/Recovery trials, as well as Fallers/Non-Fallers at two different time windows: 50–75 and 75–100 ms.ResultsSixteen of 86 trials resulted in falls by nine subjects (Fallers). While no differences were found between 50 and 75 ms, EMG amplitude in the paretic rectus femoris muscle was larger between 75 and 100 ms during Fall trials. Further, a bilateral increase in RF activity was seen in Fallers but not Non-Fallers. Interestingly, the bilateral increase was related to perturbation intensity (larger EMG activity with larger perturbations) in Fallers, but again not in Non-Fallers.ConclusionsHeightened early recovery hip flexor activity between 75 and 100 ms is associated with falls and Fallers post-stroke.SignificanceThough requiring replication and expanded subject pools, these preliminary results reflect a possible clinically meaningful relationship between heightened reflexive responses and fall risk. Future work should evaluate the underlying mechanisms driving these heightened reflexes (e.g. stretch, startle) such that future rehabilitation techniques can address this abnormal response.



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Utilization of independent component analysis for accurate pathological ripple detection in intracranial EEG recordings recorded extra- and intra-operatively

Publication date: January 2018
Source:Clinical Neurophysiology, Volume 129, Issue 1
Author(s): Shoichi Shimamoto, Zachary J. Waldman, Iren Orosz, Inkyung Song, Anatol Bragin, Itzhak Fried, Jerome Engel, Richard Staba, Ashwini Sharan, Chengyuan Wu, Michael R. Sperling, Shennan A. Weiss
ObjectiveTo develop and validate a detector that identifies ripple (80–200 Hz) events in intracranial EEG (iEEG) recordings in a referential montage and utilizes independent component analysis (ICA) to eliminate or reduce high-frequency artifact contamination. Also, investigate the correspondence of detected ripples and the seizure onset zone (SOZ).MethodsiEEG recordings from 16 patients were first band-pass filtered (80–600 Hz) and Infomax ICA was next applied to derive the first independent component (IC1). IC1 was subsequently pruned, and an artifact index was derived to reduce the identification of high-frequency events introduced by the reference electrode signal. A Hilbert detector identified ripple events in the processed iEEG recordings using amplitude and duration criteria. The identified ripple events were further classified and characterized as true or false ripple on spikes, or ripples on oscillations by utilizing a topographical analysis to their time-frequency plot, and confirmed by visual inspection.ResultsThe signal to noise ratio was improved by pruning IC1. The precision of the detector for ripple events was 91.27 ± 4.3%, and the sensitivity of the detector was 79.4 ± 3.0% (N = 16 patients, 5842 ripple events). The sensitivity and precision of the detector was equivalent in iEEG recordings obtained during sleep or intra-operatively. Across all the patients, true ripple on spike rates and also the rates of false ripple on spikes, that were generated due to filter ringing, classified the seizure onset zone (SOZ) with an area under the receiver operating curve (AUROC) of >76%. The magnitude and spectral content of true ripple on spikes generated in the SOZ was distinct as compared with the ripples generated in the NSOZ (p < .001).ConclusionsUtilizing ICA to analyze iEEG recordings in referential montage provides many benefits to the study of high-frequency oscillations. The ripple rates and properties defined using this approach may accurately delineate the seizure onset zone.SignificanceStrategies to improve the spatial resolution of intracranial EEG and reduce artifact can help improve the clinical utility of HFO biomarkers.



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A method for the topographical identification and quantification of high frequency oscillations in intracranial electroencephalography recordings

Publication date: January 2018
Source:Clinical Neurophysiology, Volume 129, Issue 1
Author(s): Zachary J. Waldman, Shoichi Shimamoto, Inkyung Song, Iren Orosz, Anatol Bragin, Itzhak Fried, Jerome Engel, Richard Staba, Michael R. Sperling, Shennan A. Weiss
ObjectiveTo develop a reliable software method using a topographic analysis of time-frequency plots to distinguish ripple (80–200 Hz) oscillations that are often associated with EEG sharp waves or spikes (RonS) from sinusoid-like waveforms that appear as ripples but correspond with digital filtering of sharp transients contained in the wide bandwidth EEG.MethodsA custom algorithm distinguished true from false ripples in one second intracranial EEG (iEEG) recordings using wavelet convolution, identifying contours of isopower, and categorizing these contours into sets of open or closed loop groups. The spectral and temporal features of candidate groups were used to classify the ripple, and determine its duration, frequency, and power. Verification of detector accuracy was performed on the basis of simulations, and visual inspection of the original and band-pass filtered signals.ResultsThe detector could distinguish simulated true from false ripple on spikes (RonS). Among 2934 visually verified trials of iEEG recordings and spectrograms exhibiting RonS the accuracy of the detector was 88.5% with a sensitivity of 81.8% and a specificity of 95.2%. The precision was 94.5% and the negative predictive value was 84.0% (N = 12). Among, 1,370 trials of iEEG recording exhibiting RonS that were reviewed blindly without spectrograms the accuracy of the detector was 68.0%, with kappa equal to 0.01 ± 0.03. The detector successfully distinguished ripple from high spectral frequency 'fast ripple' oscillations (200–600 Hz), and characterize ripple duration and spectral frequency and power. The detector was confounded by brief bursts of gamma (30–80 Hz) activity in 7.31 ± 6.09% of trials, and in 30.2 ± 14.4% of the true RonS detections ripple duration was underestimated.ConclusionsCharacterizing the topographic features of a time-frequency plot generated by wavelet convolution is useful for distinguishing true oscillations from false oscillations generated by filter ringing.SignificanceCategorizing ripple oscillations and characterizing their properties can improve the clinical utility of the biomarker.



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The effect of reducing EEG electrode number on the visual interpretation of the human expert for neonatal seizure detection

Publication date: January 2018
Source:Clinical Neurophysiology, Volume 129, Issue 1
Author(s): Nathan J. Stevenson, Leena Lauronen, Sampsa Vanhatalo
ObjectivesTo measure changes in the visual interpretation of the EEG by the human expert for neonatal seizure detection when reducing the number of recording electrodes.MethodsEEGs were recorded from 45 infants admitted to the neonatal intensive care unit (NICU). Three experts annotated seizures in EEG montages derived from 19, 8 and 4 electrodes. Differences between annotations were assessed by comparing intra-montage with inter-montage agreement (K).ResultsThree experts annotated 4464 seizures across all infants and montages. The inter-expert agreement was not significantly altered by the number of electrodes in the montage (p = 0.685, n = 43). Reducing the number of EEG electrodes altered the seizure annotation for all experts. Agreement between the 19-electrode montage (K19,19 = 0.832) was significantly higher than the agreement between 19 and 8-electrode montages (dK = 0.114; p < 0.001, n = 42) or 19 and 4-electrode montages (dK = 0.113, p < 0.001, n = 43). Seizure burden and number were significantly underestimated by the 4 and 8-electrode montage (p < 0.001). No significant difference in agreement was found between 8 and 4-electrode montages (dK = 0.002; p = 0.07, n = 42).ConclusionsReducing the number of EEG electrodes from 19 electrodes resulted in slight but significant changes in seizure detection.SignificanceFour-electrode montages for routine EEG monitoring are comparable to eight electrodes for seizure detection in the NICU.



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Correlating motor unit morphology with bioelectrical activity – A simulation study

Publication date: January 2018
Source:Clinical Neurophysiology, Volume 129, Issue 1
Author(s): Ewa Zalewska, Irena Hausmanowa-Petrusewicz
ObjectivesThe aim was to determine motor unit morphology underpinning the various MUP waveforms using MUP analysis.MethodThe simulation method is based on the decomposition of MUP into single fiber potentials. Number of fibers, fiber diameters and fiber to electrode distances were determined. The impact of each muscle fiber on the MUP waveform was determined and quantified by its percentage contribution.ResultsThe origin of the four examined MUPs of distinct waveforms have been explained by showing the histograms of fiber diameters and their distance to the electrode. In the case of a low amplitude MUP it was found that it originated from fibers of smaller than normal diameters with no dominant fiber. In another case of a MUP of short duration its shape was due to a single fiber close to the electrode which contributed to about 80% of the MUP. In case of polyphasic MUP, muscle fiber diameters variability was responsible for MUP characteristic. MUP from normal muscle originated from few fibers of similar diameters. Correlation between MUP's characteristic and morphological features has been indicated. Our findings are consistent with the neurophysiological knowledge about the origins of MUP. The approximation method enables MUP analysis that provides quantitative description of motor unit morphology.ConclusionMUP analysis using an approximation method enables to get an insight into motor unit morphology and therefore increases understanding of the way the motor unit structure correlates with MUP waveform.SignificanceExtending the amount of information available from EMG examinations.



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Cognitive impairment measured by event-related potentials during early and late postoperative period following intravenous or inhalation anaesthesia

Publication date: January 2018
Source:Clinical Neurophysiology, Volume 129, Issue 1
Author(s): Irena Holečková, Jakub Kletečka, David Štěpánek, Slavomír Žídek, David Bludovský, Jiří Pouska, Pavel Mautner, Vladimír Přibáň
ObjectiveThis study investigated modification in cognitive function following inhalation (IA) and total intravenous (TIVA) anaesthesia measured using auditory ERPs (Event Related Potentials).MethodsAuditory ERPs examination with N1, P3a and P3b component registration was carried out one day before surgery (D−1) and on the first (D+1), sixth (D+6) and 42nd (D+42) days after surgery. Results were compared between two anaesthetic groups.ResultsOn D+1, N1 latency was increased in the IA group. A significant reduction was observed in amplitude of the P3a component on D+6, which persisted up to D+42 for both IA and TIVA groups. A reduction in the amplitude of P3b on D+1 with normalization by D+6 was found in both groups as well.ConclusionsIntravenous and inhalation anaesthesia lead to similar changes in cognitive function as determined by ERPs, both during the early and late postoperative periods. It cannot be clearly confirmed whether the observed effects are due to anaesthesia or other unmonitored perioperative factors.SignificancePost anaesthetic changes represent a subclinical impairment; nevertheless, they represent a potential risk for subsequent development of cognitive difficulties.



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Reply to “Stimulus, response and excitability – What is new?”

Publication date: January 2018
Source:Clinical Neurophysiology, Volume 129, Issue 1
Author(s): François Charles Wang




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Reply to “The insular cortex and QTc interval in HIV+ and HIV− individuals: Is there an effect of sympathetic nervous system activity?“

Publication date: January 2018
Source:Clinical Neurophysiology, Volume 129, Issue 1
Author(s): Roger C. McIntosh, Dominic C. Chow, Corey J. Lum, Cecilia M. Shikuma, Kalpana J. Kallianpur




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Tumour-like giant nerves in entrapment neuropathies

Publication date: Available online 22 December 2017
Source:Clinical Neurophysiology
Author(s): Anita Csillik, Marianna Tóth, Zsuzsanna Arányi




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Tumour-like giant nerves in entrapment neuropathies

High resolution ultrasound has recently become a useful complementary method to electrophysiology for the confirmation of various entrapment neuropathies. The ultrasonographic signs of entrapment neuropathies include the segmental enlargement of the cross-sectional area (CSA) and the change of the echotexture of the nerve proximal and sometimes distal to the site of compression (Cartwright and Walker, 2013; Csillik et al., 2016). On longitudinal scans, an abrupt caliber change and a spindle-like segmental swelling of the nerve is typically seen.

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Intraoperative cortico-cortical evoked potentials shows disconnection of the motor cortex from the epileptogenic network during subtotal hemispherotomy

Epileptic spasms (ES) are a unique seizure type, comprising of sudden tonic movements of predominantly proximal and truncal muscles. In the revised operational classification of seizure types by the International League Against Epilepsy (ILAE) (Fisher et al., 2017), ES are classified as into focal, generalized, and unknown onset categories. Iimura et al. reported that ten of 23 patients who underwent subtotal hemispherectomy or multilobar resection presented with ES (Iimura et al., 2017). They found extensively distributed interictal epileptogenic high-frequency oscillations (HFOs) which skipped the motor area.

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Differential changes in the spinal segmental locomotor output in Hereditary Spastic Paraplegia

Hereditary spastic paraplegia (HSP) includes a heterogeneous group of inherited neurodegenerative disorders resulting from primary retrograde degeneration of corticospinal fibers originating from many areas of the brain (de Souza et al., 2016). Most of the corticospinal neurons originate in the primary motor cortex and premotor frontal areas. Corticospinal axons originating from layer V pyramidal neurons synapse directly or via spinal interneurons with alpha-motor neurons (MN) innervating skeletal muscles and controlling movements of the limbs and trunk.

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EMS1 Editorial Advisory Board reflects on 2017 and the year ahead

It was a big year for EMS, and for EMS1. EMS providers made big strides for patient care and promoting the profession in 2017. Community paramedic Lisa Cassidy with the St. Charles County Ambulance District launched the #StopHeroin campaign for opioid abuse prevention and treatment. Charles Avery, an EMS program director at Bainbridge State College, made it possible for a young woman with Down Syndrome ...

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A Novel Approach to Assessing Head Injury Severity in Pediatric Patient Falls

Pediatric patient falls with head-to-floor impact have the greatest potential for injury.

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Macrolide-Resistance Selection in Tibetan Pigs with a High Load of Mycoplasma hyopneumoniae

Microbial Drug Resistance , Vol. 0, No. 0.


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Adapting the Caesium-137 technique to document soil redistribution rates associated with traditional cultivation practices in Haiti

Publication date: March 2018
Source:Journal of Environmental Radioactivity, Volume 183
Author(s): H. Velasco, R. Torres Astorga, D. Joseph, J.S. Antoine, L. Mabit, A. Toloza, G. Dercon, Des E. Walling
Large-scale deforestation, intensive land use and unfavourable rainfall conditions are responsible for significant continuous degradation of the Haitian uplands. To develop soil conservation strategies, simple and cost-effective methods are needed to assess rates of soil loss from farmland in Haiti. The fallout radionuclide caesium-137 (¹³⁷Cs) provides one such means of documenting medium-term soil redistribution rates. In this contribution, the authors report the first use in Haiti of ¹³⁷Cs measurements to document soil redistribution rates and the associated pattern of erosion/sedimentation rates along typical hillslopes within a traditional upland Haitian farming area. The local ¹³⁷Cs reference inventory, measured at an adjacent undisturbed flat area, was 670 Bq m⁻² (SD = 100 Bq m⁻², CV = 15%, n = 7). Within the study area, where cultivation commenced in 1992 after deforestation, three representative downslope transects were sampled. These were characterized by ¹³⁷Cs inventories ranging from 190 to 2200 Bq m⁻². Although, the study area was cultivated by the local farmers, the ¹³⁷Cs depth distributions obtained from the area differed markedly from those expected from a cultivated area. They showed little evidence of tillage mixing within the upper part of the soil or, more particularly, of the near-uniform activities normally associated with the plough layer or cultivation horizon. They were very similar to that found at the reference site and were characterized by high ¹³⁷Cs activities at the surface and much lower activities at greater depths. This situation is thought to reflect the traditional manual tillage practices which cause limited disturbance and mixing of the upper part of the soil. It precluded the use of the conversion models normally used to estimate soil redistribution rates from ¹³⁷Cs measurements on cultivated soils and the Diffusion and Migration conversion model frequently used for uncultivated soils was modified for application to the cultivated soils of the study area, in order to take account of the unusual local conditions. The model was also modified to take account of the fact that cultivation in the study area commenced in 1992, rather than predating the period of weapons test fallout which extended from the mid 1950s to the 1970s. Erosion rates on the upper parts of the hillside involved in the study were found to be relatively high and ca. −23 t ha⁻¹ y⁻¹ with low spatial variability. In the lower, flatter areas at the bottom of the slope, deposition occurred. Deposition rates were characterized by high spatial variability, ranging from 6.0 to 71 t ha⁻¹ y⁻¹. Soil redistribution rates of this magnitude are a cause for concern and there is an urgent need to implement soil conservation measures to ensure the longer-term sustainability of the local agricultural practices.



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An inverse method to estimate emission rates based on nonlinear least-squares-based ensemble four-dimensional variational data assimilation with local air concentration measurements

Publication date: March 2018
Source:Journal of Environmental Radioactivity, Volume 183
Author(s): Xiaobing Geng, Zhenghui Xie, Lijun Zhang, Mei Xu, Binghao Jia
An inverse source estimation method is proposed to reconstruct emission rates using local air concentration sampling data. It involves the nonlinear least squares-based ensemble four-dimensional variational data assimilation (NLS-4DVar) algorithm and a transfer coefficient matrix (TCM) created using FLEXPART, a Lagrangian atmospheric dispersion model. The method was tested by twin experiments and experiments with actual Cs-137 concentrations measured around the Fukushima Daiichi Nuclear Power Plant (FDNPP). Emission rates can be reconstructed sequentially with the progression of a nuclear accident, which is important in the response to a nuclear emergency. With pseudo observations generated continuously, most of the emission rates were estimated accurately, except under conditions when the wind blew off land toward the sea and at extremely slow wind speeds near the FDNPP. Because of the long duration of accidents and variability in meteorological fields, monitoring networks composed of land stations only in a local area are unable to provide enough information to support an emergency response. The errors in the estimation compared to the real observations from the FDNPP nuclear accident stemmed from a shortage of observations, lack of data control, and an inadequate atmospheric dispersion model without improvement and appropriate meteorological data. The proposed method should be developed further to meet the requirements of a nuclear emergency response.



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Editorial Board

Publication date: February 2018
Source:Journal of Environmental Radioactivity, Volume 182





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Lower-Limb Dominance, Performance, and Fiber Type in Resistance-trained Men

ABSTRACTINTRODUCTIONLarge imbalances between limbs are common and potentially dangerous, yet few studies have simultaneously examined performance and physiological asymmetries. The current study examined the associations between lower limb dominance, drop-jumping kinematics, maximal strength, and myosin heavy chain (MHC) fiber type in the vastus lateralis (VL).METHODSThirteen resistance-trained men (age=24.3±2.7y; height=181.4±6.6cm; mass=87.7±11.3kg) identified their dominant (DOM) and non-dominant (ND) limb, performed drop jumps (30cm) and maximal knee extensions (1RM), and provided biopsies from both VL muscles for single fiber (109±36/limb/person) MHC fiber type identification (FT%).RESULTSAll participants selected "right" as the "preferred kicking limb" (DOM). DOM displayed a trend for a greater eccentric knee angular velocity (EKV) (p=0.083) and a significantly greater concentric KV (CKV) (p=0.002) during drop-jump. DOM also tended to be stronger than ND (64.3±11.3 vs. 61.0±8.8 kg, p=0.063). Slow-twitch (MHC I) fibers were more prevalent in DOM (p5% were present in 6/12 participants for EKV, 2/12 for CKV, 6/13 for 1RM, 12/13 for MHC I, and 11/13 for MHC IIa. However, only a single participant expressed asymmetries of >5% in all dependent variables (EKV, CKV, 1RM, MHC I, and MHC IIa).CONCLUSION: Several statistically and clinically relevant asymmetries were identified. The FT% differences between lower-limbs were large and common. The findings also appear to conclude that DOM was stronger, moved faster, and contained more MHC I. However, only 23% of participants actually displayed that result. This highlights the need to analyze and report both group and individual data; particularly when interpreting findings across multiple related, but not necessarily causal, measurements. INTRODUCTION Large imbalances between limbs are common and potentially dangerous, yet few studies have simultaneously examined performance and physiological asymmetries. The current study examined the associations between lower limb dominance, drop-jumping kinematics, maximal strength, and myosin heavy chain (MHC) fiber type in the vastus lateralis (VL). METHODS Thirteen resistance-trained men (age=24.3±2.7y; height=181.4±6.6cm; mass=87.7±11.3kg) identified their dominant (DOM) and non-dominant (ND) limb, performed drop jumps (30cm) and maximal knee extensions (1RM), and provided biopsies from both VL muscles for single fiber (109±36/limb/person) MHC fiber type identification (FT%). RESULTS All participants selected "right" as the "preferred kicking limb" (DOM). DOM displayed a trend for a greater eccentric knee angular velocity (EKV) (p=0.083) and a significantly greater concentric KV (CKV) (p=0.002) during drop-jump. DOM also tended to be stronger than ND (64.3±11.3 vs. 61.0±8.8 kg, p=0.063). Slow-twitch (MHC I) fibers were more prevalent in DOM (p5% were present in 6/12 participants for EKV, 2/12 for CKV, 6/13 for 1RM, 12/13 for MHC I, and 11/13 for MHC IIa. However, only a single participant expressed asymmetries of >5% in all dependent variables (EKV, CKV, 1RM, MHC I, and MHC IIa). CONCLUSION: Several statistically and clinically relevant asymmetries were identified. The FT% differences between lower-limbs were large and common. The findings also appear to conclude that DOM was stronger, moved faster, and contained more MHC I. However, only 23% of participants actually displayed that result. This highlights the need to analyze and report both group and individual data; particularly when interpreting findings across multiple related, but not necessarily causal, measurements. Corresponding Author: Andrew J. Galpin, Ph.D., Center for Sport Performance, Department of Kinesiology, California State University, Fullerton, Fullerton, CA 92834, E-mail: agalpin@fullerton.edu The results of the study are presented clearly, honestly, and without fabrication, falsification, or inappropriate data manipulation. No financial support was received. The authors have no conflicts of interest to report. The results of this study do no constitute endorsement by the American College of Sports Medicine. Accepted for Publication: 15 December 2017 © 2017 American College of Sports Medicine

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Estimating Energy Expenditure with ActiGraph GT9X Inertial Measurement Unit

AbstractPURPOSEThe purpose of this study was to explore whether gyroscope and magnetometer data from the ActiGraph GT9X improved accelerometer-based predictions of energy expenditure (EE).METHODSThirty participants (mean±SD; age, 23.0±2.3 years; BMI, 25.2±3.9 kg/m2) volunteered to complete the study. Participants wore five GT9X monitors (right hip, both wrists, and both ankles) while performing ten activities ranging from rest to running. A Cosmed K4b2 was worn during the trial, as a criterion measure of EE (30-s averages) expressed in metabolic equivalents (METs). Triaxial accelerometer data (80 Hz) were converted to milli-G's using Euclidean norm minus one (ENMO; 1-s epochs). Gyroscope data (100 Hz) were expressed as a vector magnitude (GVM) in degrees per second (1-s epochs) and magnetometer data (100 Hz) were expressed as direction changes per five seconds. Minutes 4-6 of each activity were used for analysis. Three two-regression algorithms were developed for each wear location: 1) ENMO; 2) ENMO and GVM; and 3) ENMO, GVM, and direction changes. Leave-one-participant-out cross-validation was used to evaluate the root mean square error (RMSE) and mean absolute percent error (MAPE) of each algorithm.RESULTSAdding gyroscope to accelerometer-only algorithms resulted in RMSE reductions between 0.0 METs (right wrist) and 0.17 METs (right ankle), and MAPE reductions between 0.1% (right wrist) and 6.0% (hip). When direction changes were added, RMSE changed by ≤ 0.03 METs and MAPE by ≤ 0.21%.CONCLUSIONThe combined use of gyroscope and accelerometer at the hip and ankles improved individual-level prediction of EE, compared to accelerometer only. For the wrists, adding gyroscope produced negligible changes. The magnetometer did not meaningfully improve estimates for any algorithms. PURPOSE The purpose of this study was to explore whether gyroscope and magnetometer data from the ActiGraph GT9X improved accelerometer-based predictions of energy expenditure (EE). METHODS Thirty participants (mean±SD; age, 23.0±2.3 years; BMI, 25.2±3.9 kg/m2) volunteered to complete the study. Participants wore five GT9X monitors (right hip, both wrists, and both ankles) while performing ten activities ranging from rest to running. A Cosmed K4b2 was worn during the trial, as a criterion measure of EE (30-s averages) expressed in metabolic equivalents (METs). Triaxial accelerometer data (80 Hz) were converted to milli-G's using Euclidean norm minus one (ENMO; 1-s epochs). Gyroscope data (100 Hz) were expressed as a vector magnitude (GVM) in degrees per second (1-s epochs) and magnetometer data (100 Hz) were expressed as direction changes per five seconds. Minutes 4-6 of each activity were used for analysis. Three two-regression algorithms were developed for each wear location: 1) ENMO; 2) ENMO and GVM; and 3) ENMO, GVM, and direction changes. Leave-one-participant-out cross-validation was used to evaluate the root mean square error (RMSE) and mean absolute percent error (MAPE) of each algorithm. RESULTS Adding gyroscope to accelerometer-only algorithms resulted in RMSE reductions between 0.0 METs (right wrist) and 0.17 METs (right ankle), and MAPE reductions between 0.1% (right wrist) and 6.0% (hip). When direction changes were added, RMSE changed by ≤ 0.03 METs and MAPE by ≤ 0.21%. CONCLUSION The combined use of gyroscope and accelerometer at the hip and ankles improved individual-level prediction of EE, compared to accelerometer only. For the wrists, adding gyroscope produced negligible changes. The magnetometer did not meaningfully improve estimates for any algorithms. Corresponding Author: Name: Paul Hibbing, Mailing Address: Department of Kinesiology, Recreation, and Sport Studies, 1914 Andy Holt Ave, Knoxville, TN 37996, Email: phibbing@vols.utk.edu This study was not funded. The authors declare no conflicts of interest. The results of this study are presented clearly, honestly, and without fabrication, falsification, or inappropriate data manipulation. This study does not constitute endorsement by ACSM. Accepted for Publication: 17 December 2017 © 2017 American College of Sports Medicine

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Exercise Increases Glucose Transporter-4 Levels on Peripheral Blood Mononuclear Cells

AbstractPURPOSEGlucose transporter 4 (GLUT4) plays a key role in the pathophysiology of type 2 diabetes. GLUT4 is upregulated in response to exercise, enhancing cellular glucose transport in skeletal muscle tissue. This mechanism appears to remain intact in individuals with insulin resistance. Details of the mechanism are poorly understood and are challenging to study due to the invasive nature of muscle biopsy. Peripheral blood mononuclear cells (PBMC) have documented insulin-sensitive GLUT4 activity and may serve as a proxy tissue for studying skeletal muscle GLUT4. The purpose of this study was to investigate whether GLUT4 in PBMC is affected by conditioning.METHODWe recruited sixteen student athletes from the cross-country running and skiing teams and fifteen sedentary students matched for age and sex from the University of Alaska Fairbanks. PMBC were collected with mononuclear cell separation tubes. GLUT4 concentrations were measured using a commercially available enzyme linked immunosorbant assay. Additionally, correlations between PBMC GLUT4 and common indicators of insulin resistance were examined.RESULTSResults indicate significantly higher PBMC GLUT4 levels in conditioned athletes than in their sedentary counterparts, similar to what has been documented in myocytes. Females were observed to have higher PBMC GLUT4 levels than males. Correlations were not detected between PBMC GLUT4 and hemoglobin A1c (HbA1c), glucose, insulin, HOMA-IR, BMI, or body fat.CONCLUSIONThis study provides evidence to support exploration of PBMC as a proxy tissue for studying GLUT4 response to exercise or other non-insulin factors. PURPOSE Glucose transporter 4 (GLUT4) plays a key role in the pathophysiology of type 2 diabetes. GLUT4 is upregulated in response to exercise, enhancing cellular glucose transport in skeletal muscle tissue. This mechanism appears to remain intact in individuals with insulin resistance. Details of the mechanism are poorly understood and are challenging to study due to the invasive nature of muscle biopsy. Peripheral blood mononuclear cells (PBMC) have documented insulin-sensitive GLUT4 activity and may serve as a proxy tissue for studying skeletal muscle GLUT4. The purpose of this study was to investigate whether GLUT4 in PBMC is affected by conditioning. METHOD We recruited sixteen student athletes from the cross-country running and skiing teams and fifteen sedentary students matched for age and sex from the University of Alaska Fairbanks. PMBC were collected with mononuclear cell separation tubes. GLUT4 concentrations were measured using a commercially available enzyme linked immunosorbant assay. Additionally, correlations between PBMC GLUT4 and common indicators of insulin resistance were examined. RESULTS Results indicate significantly higher PBMC GLUT4 levels in conditioned athletes than in their sedentary counterparts, similar to what has been documented in myocytes. Females were observed to have higher PBMC GLUT4 levels than males. Correlations were not detected between PBMC GLUT4 and hemoglobin A1c (HbA1c), glucose, insulin, HOMA-IR, BMI, or body fat. CONCLUSION This study provides evidence to support exploration of PBMC as a proxy tissue for studying GLUT4 response to exercise or other non-insulin factors. Corresponding author: Kriya L Dunlap, University of Alaska Fairbanks, Department of Chemistry and Biochemistry, 900 Yukon Drive, Fairbanks, AK 99775, kldunlap@alaska.edu Research reported in this publication was supported by the National Institute of General Medical Sciences of the National Institutes of Health under Award Number P20GM103395. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. The authors thank Scarlett Hopkins of the University of Alaska Fairbanks for conducting blood draws, and the Center for Alaska Native Health Research for the use of clinic space (NIH/NGMS COBRE Grant P30GM103325). There are no conflicts of interest to declare. The results of this study are presented clearly, honestly and without fabrication, falsification or inappropriate data manipulation. The results of this study do not constitute endorsement by ACSM. Accepted for Publication: 15 December 2017 © 2017 American College of Sports Medicine

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Role of Chronic Stress and Exercise on Microvascular Function in Metabolic Syndrome

AbstractPurposeThe present study examined the effect of unpredictable chronic mild stress (UCMS) on peripheral microvessel function in healthy and metabolic syndrome (MetS) rodents, and whether exercise training could prevent the vascular dysfunction associated with UCMS.MethodsLean and obese (model of MetS) Zucker rats (LZR; OZR) were exposed to 8 weeks of UCMS, exercise (Ex), UCMS+Ex, or control conditions. At the end of the intervention, gracilis arterioles (GAs) were isolated and hung in a pressurized myobath to assess endothelium-dependent (EDD) and -independent (EID) dilation. Levels of nitric oxide (NO) and reactive oxygen species (ROS) were measured through DAF-FM and DHE staining, respectively.ResultsCompared to LZR controls, EDD and EID was lower (p=0.0001) in LZR-UCMS. The OZR-Ex group had a higher EDD (p=0.0001) and EID (p=0.003), compared to OZR-Controls; whereas only a difference in EDD (p=0.01) was noted between LZR-Control and LZR-Ex groups. Importantly, EDD and EID were higher in the LZR (p=0.0001; p=0.02) and OZR (p=0.0001; p=0.02) UCMS+Ex groups compared to UCMS alone. Lower NO bioavailability and higher ROS were noted in the LZR-UCMS group (p=0.0001), but not OZR-UCMS, compared to controls. Ex and UCMS-Ex groups had higher NO bioavailability (p=0.0001) compared to control and UCMS groups, but ROS levels remained high.ConclusionsThe comorbidity between UCMS and MetS does not exacerbate the effects of one another on GA EDD responses, but does lead to the development of other vasculopathy adaptations, which can be partially explained by alterations in NO and ROS production. Importantly, exercise training alleviates most of the negative effects of UCMS on GA function. Purpose The present study examined the effect of unpredictable chronic mild stress (UCMS) on peripheral microvessel function in healthy and metabolic syndrome (MetS) rodents, and whether exercise training could prevent the vascular dysfunction associated with UCMS. Methods Lean and obese (model of MetS) Zucker rats (LZR; OZR) were exposed to 8 weeks of UCMS, exercise (Ex), UCMS+Ex, or control conditions. At the end of the intervention, gracilis arterioles (GAs) were isolated and hung in a pressurized myobath to assess endothelium-dependent (EDD) and -independent (EID) dilation. Levels of nitric oxide (NO) and reactive oxygen species (ROS) were measured through DAF-FM and DHE staining, respectively. Results Compared to LZR controls, EDD and EID was lower (p=0.0001) in LZR-UCMS. The OZR-Ex group had a higher EDD (p=0.0001) and EID (p=0.003), compared to OZR-Controls; whereas only a difference in EDD (p=0.01) was noted between LZR-Control and LZR-Ex groups. Importantly, EDD and EID were higher in the LZR (p=0.0001; p=0.02) and OZR (p=0.0001; p=0.02) UCMS+Ex groups compared to UCMS alone. Lower NO bioavailability and higher ROS were noted in the LZR-UCMS group (p=0.0001), but not OZR-UCMS, compared to controls. Ex and UCMS-Ex groups had higher NO bioavailability (p=0.0001) compared to control and UCMS groups, but ROS levels remained high. Conclusions The comorbidity between UCMS and MetS does not exacerbate the effects of one another on GA EDD responses, but does lead to the development of other vasculopathy adaptations, which can be partially explained by alterations in NO and ROS production. Importantly, exercise training alleviates most of the negative effects of UCMS on GA function. Corresponding Author: Paul D. Chantler, 1 Medical Center Drive, P.O. Box 9227, Morgantown, WV 26506, pchantler@hsc.wvu.edu This work was supported by the American Heart Association grants IRG 14330015 and pre-doctoral fellowship AHA 14PRE 20380386, and the National Institute of General Medical Sciences of the National Institutes of Health under award numbers U54GM104942 and 5P20GM109098. The authors declare no conflicts of interest. The results of the present study do not constitute endorsement by the American College of Sports Medicine and are presented clearly, honestly, and without fabrication, falsification, or inappropriate data manipulation. Accepted for Publication: 15 December 2017 © 2017 American College of Sports Medicine

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Effects of wrist weights on kinematic and myographic movement characteristics during a reaching task in individuals with Parkinson’s disease

Publication date: Available online 22 December 2017
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Kuan-yi Li, Yu-pei Hsiao, Rou-shayn Chen, Ching-yi Wu
ObjectiveThe purpose of this study was to investigate the kinematic and myographic effects of weighted wrist cuffs on individuals with Parkinson's disease (PD) during a reaching task.DesignA cross-sectional study.SettingBiomechanics research laboratory.ParticipantsThis study included 19 individuals with PD and 20 healthy age-matched controls.InterventionsThe participants were instructed to reach and grasp a can at a distance of 80% of their arm length without a wrist cuff, while wearing separate 0.5 kg and 1.0 kg wrist cuffs, and subsequently without a wrist cuff.Main Outcome MeasuresMovement time, kinematic, and electromyographic data were recorded during all reach and grasp movements. Four endpoint coordinate strategy variables, three joint recruitment variables, and two co-contraction indices were derived from the raw data for analysis.ResultsSignificant interaction effects were found in the trunk and index finger movement time as the weight of the cuff increased from 0.5 kg to 1.0 kg. The group of individuals with PD showed decreased movement times in both instances, whereas the control group showed increased movement times as the weight of the wrist cuff increased from baseline to 0.5 kg and 1.0 kg. No group difference was observed in the co-contraction index of the upper arm and forearm.ConclusionAdoption of weighted wrist cuffs in the clinic should be cautiously undertaken because compensatory movements may be induced in the trunk of individuals with PD.



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Geographic Region and Profit Status Drive Variation in Hospital Readmission Outcomes among Inpatient Rehabilitation Facilities in the United States

Publication date: Available online 22 December 2017
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Laura Coots Daras, Melvin J. Ingber, Anne Deutsch, Jennifer Gaudet Hefele, Jennifer Perloff
ObjectiveTo examine whether there are differences in inpatient rehabilitation facilities (IRFs') all-cause, 30-day post-discharge hospital readmission rates by organizational characteristics and geographic regions.DesignObservational study.Setting and ParticipantsWe analyzed Medicare claims and administrative data sources for Medicare fee-for-service beneficiaries discharged from all IRFs nationally (N=1,166) in 2013 and 2014.Main Outcome MeasureWe applied specifications for an existing quality measure adopted by CMS for public reporting that assesses all-cause unplanned hospital readmissions for 30 days post-discharge from inpatient rehabilitation. We estimated facility-level observed and risk-standardized readmission rates and then examined variation by several organizational characteristics (facility type, profit status, teaching status, proportion of low-income patients, size) and geographic factors (rural/urban, census division, and state).ResultsThe mean IRF risk-standardized hospital readmission rate was 13.00 percent (SD 0.77). After controlling for organizational characteristics and practice patterns, we found substantial variation in IRFs' readmission rates: for-profit IRFs had significantly higher readmission rates compared to not-for-profit IRFs (p<0.001). We also found geographic variation: IRFs in the South Atlantic and South Central census regions had the highest hospital readmission rates compared to IRFs in New England that had the lowest rates.ConclusionsOur findings point to variation in the quality of care, as measured by risk-standardized hospital readmission rates following IRF discharge. Thus, monitoring of readmission outcomes is important to encourage quality improvement in discharge care planning, care transitions and follow-up.



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Dynamic balance is related to physiological impairments in persons with multiple sclerosis

Publication date: Available online 22 December 2017
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Alexander T. Peebles, Adam P. Bruetsch, Sharon G. Lynch, Jessie M. Huisinga
ObjectivesTo compare physiological impairments between persons with multiple sclerosis (MS) with a history of falls and persons with MS without a history of falls and to investigate the association between physiological impairments and dynamic balance.DesignCross-sectional study.SettingUniversity motion analysis laboratory.ParticipantsFifty-five persons with MS (27 recurrent fallers and 28 non-fallers). Participants were classified as fallers if they self-reported 2 or more falls in the previous six months.InterventionsNone.Main Outcome MeasuresPhysiological impairment was assessed with sensorimotor delays, spasticity, plantar cutaneous sensation, and the sensory, cerebellar, and pyramidal Expanded Disability Status Scale (EDSS) subscales. Dynamic balance was assessed using the average and variability of margin of stability and variability of trunk accelerations.ResultsCompared to non-fallers, fallers had lower plantar sensation, longer sensorimotor delays, more spasticity, and more impairment in the pyramidal and cerebellar EDSS subscales. Additionally, these impairments were all moderately to strongly correlated with worse dynamic balance.ConclusionsThe present study highlights the multifactorial nature of instability in persons with MS. A better understanding of the physiological mechanisms of dynamic instability in persons with MS can be used to improve methods of monitoring disease progression, identifying which impairments to target through interventions, and appropriately evaluating intervention efficacy.



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Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X

Mesomelic and rhizo-mesomelic dysplasias are a group of disorders characterized by abnormal shortening of the limbs. One of the most common causes of mesomelic shortening is the loss of the transcription factor SHOX. In this clinical report, we present a patient who in addition to mesomelic shortening has severe rhizomelic shortening and developmental delay. Karyotyping revealed a recombinant X chromosome in which the region distal to Xp22.33 (where SHOX is found) was replaced with material from Xq28. Included in the region distal to Xq28 is the gene MECP2 and this patient presents with features of MECP2 duplication syndrome. We find that this patient has skeletal features not typical with the loss of SHOX that are likely explained by the rearrangement of the X chromosome. Further delineation of this rearrangement may allow for the identification of additional genetic mechanisms critical for the development of the limbs.

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Prader–Willi syndrome and early-onset morbid obesity NIH rare disease consortium: A review of natural history study

We describe the National Institutes of Health rare disease consortium for Prader–Willi syndrome (PWS) developed to address concerns regarding medical care, diagnosis, growth and development, awareness, and natural history. PWS results from errors in genomic imprinting leading to loss of paternally expressed genes due to 15q11-q13 deletion, maternal disomy 15 or imprinting defects. The 8 year study was conducted at four national sites on individuals with genetically confirmed PWS and early-onset morbid obesity (EMO) with data accumulated to gain a better understanding of the natural history, cause and treatment of PWS. Enrollment of 355 subjects with PWS and 36 subjects with EMO began in September 2006 with study completion in July 2014. Clinical, genetic, cognitive, behavior, and natural history data were systematically collected along with PWS genetic subtypes, pregnancy and birth history, mortality, obesity, and cognitive status with study details as important endpoints in both subject groups. Of the 355 individuals with PWS, 217 (61%) had the 15q11-q13 deletion, 127 (36%) had maternal disomy 15, and 11 (3%) had imprinting defects. Six deaths were reported in our PWS cohort with 598 cumulative years of study exposure and one death in the EMO group with 42 years of exposure. To our knowledge, this description of a longitudinal study in PWS represents the largest and most comprehensive cohort useful for investigators in planning comparable studies in other rare disorders. Ongoing studies utilizing this database should have a direct impact on care and services, diagnosis, treatment, genotype–phenotype correlations, and clinical outcomes in PWS.

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Elsahy–Waters syndrome is caused by biallelic mutations in CDH11

Elsahy–Waters syndrome (EWS), also known as branchial–skeletal–genital syndrome, is a distinct dysmorphology syndrome characterized by facial asymmetry, broad forehead, marked hypertelorism with proptosis, short and broad nose, midface hypoplasia, intellectual disability, and hypospadias. We have recently published a homozygous potential loss of function variant in CDH11 in a boy with a striking resemblance to EWS. More recently, another homozygous truncating variant in CDH11 was reported in two siblings with suspected EWS. Here, we describe in detail the clinical phenotype of the original CDH11-related patient with EWS as well as a previously unreported EWS-affected girl who was also found to have a novel homozygous truncating variant in CDH11, which confirms that EWS is caused by biallelic CDH11 loss of function mutations. Clinical features in the four CDH11 mutation-positive individuals confirm the established core phenotype of EWS. Additionally, we identify upper eyelid coloboma as a new, though infrequent clinical feature. The pathomechanism underlying EWS remains unclear, although the limited phenotypic data on the Cdh11^−/− mouse suggest that this is a potentially helpful model to explore the craniofacial and brain development in EWS-affected individuals.

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Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies

Ciliopathies are disorders of the primary cilium that can affect almost all organs and that are characterized by pleiotropy and extensive intra- and interfamilial phenotypic variability. Accordingly, mutations in the same gene can cause different ciliopathy phenotypes of varying severity. WDR60 encodes a protein thought to play a role in the primary cilium's intraflagellar transport machinery. Mutations in this gene are a rare cause of Jeune asphyxiating thoracic dystrophy (JATD) and short-rib polydactyly syndrome (SRPS). Here we report on a milder and distinct phenotype in a consanguineous Pakistani pedigree with two adolescent sisters affected by retinal degeneration and postaxial polydactyly, but lack of any further skeletal or chondrodysplasia features. By targeted high-throughput sequencing of genes known or suspected to be involved in ciliogenesis, we detected a novel homozygous N-terminal truncating WDR60 mutation (c.44delC/p.Ala15Glufs*90) that co-segregated with the disease in the family. Our finding broadens the spectrum of WDR60-related phenotypes and shows the utility of broad multigene panels during the genetic work-up of patients with ciliopathies.

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The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor

Noonan syndrome is characterized by typical craniofacial dysmorphism, postnatal growth retardation, congenital heart defect, and learning difficulties and belongs to the RASopathies, a group of neurodevelopmental disorders caused by germline mutations in genes encoding components of the RAS-MAPK pathway. Mutations in the RAF1 gene are associated with Noonan syndrome, with a high prevalence of hypertrophic cardiomyopathy (HCM). RAF1 mutations cluster in exons encoding the conserved region 2 (CR2), the kinase activation segment of the CR3 domain, and the C-terminus. We present two boys with Noonan syndrome and the identical de novo RAF1 missense variant c.1082G>C/p.(Gly361Ala) affecting the CR3, but located outside the kinase activation segment. The p.(Gly361Ala) mutation has been identified as a RAF1 allele conferring resistance to RAF inhibitors. This amino acid change favors a RAF1 conformation that allows for enhanced RAF dimerization and increased intrinsic kinase activity. Both patients with Noonan syndrome showed typical craniofacial dysmorphism, macrocephaly, and short stature. One individual developed HCM and was diagnosed with a disseminated oligodendroglial-like leptomeningeal tumor (DOLT) of childhood at the age of 9 years. While there is a well-established association of NS with malignant tumors, especially childhood hemato-oncological diseases, brain tumors have rarely been reported in Noonan syndrome. Our data demonstrate that mutation scanning of the entire coding region of genes associated with Noonan syndrome is mandatory not to miss rare variants located outside the known mutational hotspots.

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All for one - O2-sensitive K+ channels that mediate carotid body activation

Abstract

The hypoxic ventilatory response is a homeostatic reflex essential for the survival of mammals in environmental or pathological conditions that present with hypoxemia (low PO₂ in the blood).

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