Validation of the diagnostic potential of mtDNA copy number derived from whole genome sequencing

Publication date: Available online 6 June 2018
Source:Journal of Genetics and Genomics
Author(s): Rachel Brockhage, Jesse Slone, Zeqian Ma, Madhuri R. Hegde, C. Alexander Valencia, Taosheng Huang




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Circulating Cytokine/Chemokine Concentrations Respond to Ionizing Radiation Doses but not Radiation Dose Rates: Granulocyte-Colony Stimulating Factor and Interleukin-18

Radiation Research, Volume 189, Issue 6, Page 634-643, June 2018.


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NASA GeneLab Project: Bridging Space Radiation Omics with Ground Studies

Radiation Research, Volume 189, Issue 6, Page 553-559, June 2018.


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Dose-Modifying Factor of Radiation Therapy with Concurrent Cisplatin Treatment in HPV-Positive Squamous Cell Carcinoma: A Preclinical Study

Radiation Research, Volume 189, Issue 6, Page 644-651, June 2018.


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Identity Crisis – Rigor and Reproducibility in Human Cell Lines

Radiation Research, Volume 189, Issue 6, Page 551-552, June 2018.


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DNA Topoisomerase IB as a Potential Ionizing Radiation Exposure and Dose Biomarker

Radiation Research, Volume 189, Issue 6, Page 652-660, June 2018.


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Mice Lacking RIP3 Kinase are not Protected from Acute Radiation Syndrome

Radiation Research, Volume 189, Issue 6, Page 627-633, June 2018.


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Analysis of Radiation-Induced Chromosomal Aberrations on a Cell-by-Cell Basis after Alpha-Particle Microbeam Irradiation: Experimental Data and Simulations

Radiation Research, Volume 189, Issue 6, Page 597-604, June 2018.


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A Novel Method to Extend a Partial-Body CT for the Reconstruction of Dose to Organs beyond the Scan Range

Radiation Research, Volume 189, Issue 6, Page 618-626, June 2018.


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Analysis of Gene Expression Changes in PHA-M Stimulated Lymphocytes – Unraveling PHA Activity as Prerequisite for Dicentric Chromosome Analysis

Radiation Research, Volume 189, Issue 6, Page 579-596, June 2018.


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Application of an Ex Vivo Tissue Model to Investigate Radiobiological Effects on Spermatogenesis

Radiation Research, Volume 189, Issue 6, Page 661-667, June 2018.


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Behavioral Effects of Focal Irradiation in a Juvenile Murine Model

Radiation Research, Volume 189, Issue 6, Page 605-617, June 2018.


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Amelioration of Head and Neck Radiation-Induced Mucositis and Distant Marrow Suppression in Fanca–/– and Fancg–/– Mice by Intraoral Administration of GS-Nitroxide (JP4-039)

Radiation Research, Volume 189, Issue 6, Page 560-578, June 2018.


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Identification of charcoal rot resistance QTLs in sorghum using association and in silico analyses

Abstract

Charcoal rot disease, a root and stem disease caused by the soil-borne fungus Macrophomina phaseolina (Tassi) Goid., is a major biotic stress that limits sorghum productivity worldwide. Charcoal rot resistance-related parameters, e.g., pre-emergence damping-off%, post-emergence damping-off%, charcoal rot disease severity, and plant survival rates, were measured in a structured sorghum population consisting of 107 landraces. Analysis of variance of charcoal rot resistance-related parameters revealed significant variations in the response to M. phaseolina infection within evaluated accessions. Continuous phenotypic variations for resistance-related parameters were observed indicating a quantitative inheritance of resistance. The population was genotyped using 181 simple sequence repeat (SSR) markers. Association analysis identified 13 markers significantly associated with quantitative trait genes (QTLs) conferring resistance to charcoal rot disease with an R² value ranging between 9.47 to 18.87%, nine of which are environment-specific loci. Several QTL-linked markers are significantly associated with more than one resistance-related parameter, suggesting that those QTLs might contain genes involved in the plant defense response. In silico analysis of four novel major QTLs identified 11 putative gene homologs that could be considered as candidate genes for resistance against charcoal rot disease. Cluster analysis using the genotypic data of 181 SSR markers from 107 sorghum accessions identified 12 main clusters. The results provide a basis for further functional characterization of charcoal rot disease resistance or defense genes in sorghum and for further dissection of their molecular mechanisms.

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Minimal-invasive temporary gastric stimulation: A pilot study to predict the outcome of electronic gastric stimulation with the Enterra™ system

Gastroparesis (GP) is defined as delayed gastric emptying (GE) without any obstruction of the pylorus. It can be divided into idiopathic, diabetic, post surgical and rare causes. Electronic gastric stimulation (EGS) − Enterra Medtronic™ − is a part of GP therapy. Although its positive impact has been reported in open label trials, randomized controlled trials failed in demonstrating a positive outcome. The aim of this pilot study was to establish a reliable prediction for permanent gastric stimulation.

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Standardised pain management decreases expenses on analgesics: results from a 5-year programme at a university hospital

No abstract available

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Severe and persistent morphine-induced respiratory depression associated with ATP-Binding Cassette Subfamily B Member 1 and catechol-O-methyltransferase genetic defects: A case report

No abstract available

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Does goal-directed haemodynamic and fluid therapy improve peri-operative outcomes?: A systematic review and meta-analysis

BACKGROUND Much uncertainty exists as to whether peri-operative goal-directed therapy is of benefit. OBJECTIVES To discover if peri-operative goal-directed therapy decreases mortality and morbidity in adult surgical patients. DESIGN An updated systematic review and random effects meta-analysis of randomised controlled trials. DATA SOURCES Medline, Embase and the Cochrane Library were searched up to 31 December 2016. ELIGIBILITY CRITERIA Randomised controlled trials enrolling adult surgical patients allocated to receive goal-directed therapy or standard care were eligible for inclusion. Trauma patients and parturients were excluded. Goal-directed therapy was defined as fluid and/or vasopressor therapy titrated to haemodynamic goals [e.g. cardiac output (CO)]. Outcomes included mortality, morbidity and hospital length of stay. Risk of bias was assessed using Cochrane methodology. RESULTS Ninety-five randomised trials (11 659 patients) were included. Only four studies were at low risk of bias. Modern goal-directed therapy reduced mortality compared with standard care [odds ratio (OR) 0.66; 95% confidence interval (CI) 0.50 to 0.87; number needed to treat = 59; N = 52; I2 = 0.0%]. In subgroup analysis, there was no mortality benefit for fluid-only goal-directed therapy, cardiac surgery patients or nonelective surgery. Contemporary goal-directed therapy also reduced pneumonia (OR 0.69; 95% CI, 0.51 to 0. 92; number needed to treat = 38), acute kidney injury (OR 0. 73; 95% CI, 0.58 to 0.92; number needed to treat = 29), wound infection (OR 0.48; 95% CI, 0.37 to 0.63; number needed to treat = 19) and hospital length of stay (days) (−0.90; 95% CI, −1.32 to −0.48; I2 = 81. 2%). No important differences in outcomes were found for the pulmonary artery catheter studies, after accounting for advances in the standard of care. CONCLUSION Peri-operative modern goal-directed therapy reduces morbidity and mortality. Importantly, the quality of evidence was low to very low (e.g. Grading of Recommendations, Assessment, Development and Evaluation scoring), and there was much clinical heterogeneity among the goal-directed therapy devices and protocols. Additional well designed and adequately powered trials on peri-operative goal-directed therapy are necessary.

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Low anaesthetic waste gas concentrations in postanaesthesia care unit: A prospective observational study

BACKGROUND Volatile anaesthetics are a potential hazard during occupational exposure, pregnancy or in individuals with existing disposition to malignant hyperthermia. Anaesthetic waste gas concentration in postanaesthesia care units (PACU) has rarely been investigated. OBJECTIVE(S) The current study aims to assess concentrations of volatile anaesthetics in relation to room size, number of patients and ventilator settings in different PACUs. DESIGN A prospective observational study. SETTING Two different PACUs of the Hannover Medical School (Hannover, Germany) were evaluated in this study. The rooms differed in dimensions, patient numbers and room ventilation settings. PATIENTS During the observation period, sevoflurane anaesthesia was performed in 65 of 140 patients monitored in postanaesthesia unit one and in 42 of 70 patients monitored in postanaesthesia unit two. MAIN OUTCOME MEASURES Absolute trace gas room concentrations of sevoflurane measured with a compact, closed gas loop high-resolution ion mobility spectrometer. RESULTS Traces of sevoflurane could be detected in 805 out of 970 samples. Maximum concentrations were 0.96 ± 0.20 ppm in postanaesthesia unit one, 0.82 ± 0.07 ppm in postanaesthesia unit two. Median concentration was 0.12 (0.34) ppm in postanaesthesia unit one and 0.11 (0.28) ppm in postanaesthesia unit two. CONCLUSION Low trace amounts of sevoflurane were detected in both PACUs equipped with controlled air exchange systems. Occupational exposure limits were not exceeded.

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Safety and efficacy of peri-operative administration of hydroxyethyl starch in children undergoing surgery: A systematic review and meta-analysis

BACKGROUND Hydroxyethyl starch (HES) solutions have shown their efficiency for intravascular volume expansion. A safety recommendation limiting their use in adult patients has recently been made. OBJECTIVE To assess the efficacy and adverse effects of HES when administered intra-operatively to paediatric patients. DESIGN Systematic review with meta-analyses. Data were analysed using classical mean differences [and their 95% confidence intervals (CIs)] and trial sequential analysis. A Grading of Recommendations Assessment, Development and Evaluation (GRADE) classification was performed for all outcomes. Reviewers extracted valid data, including perioperative total fluid intakes, mortality, renal function, coagulation tests, blood loss and length of hospital and ICU stay. DATA SOURCES Searches were performed in databases (Pubmed, Embase, Cochrane central register of controlled trials), clinical trials register, and open access journals not indexed in major databases. ELIGIBILITY CRITERIA Randomised controlled trials (RCTs) published before December 2016 involving paediatric patients who received 6% low molecular weight HES. RESULTS Nine RCTs involving 530 peri-operative paediatric patients were analysed. Compared with other fluids, HES did not significantly modify the amount of peri-operative fluid administered [mean difference 0.04; 95% CI (−1.76 to 1.84) ml kg−1], urine output [mean difference −33; 95% CI (−104 to 38) ml kg−1] or blood loss [mean difference −0.09; (−0.32 to 0.15) ml kg−1]. Trial sequential analysis determined that the outcomes for peri-operative fluid and urine output were underpowered. All results were graded as very low quality of evidence. CONCLUSION Intravascular volume expansion with low molecular weight 6% HES did not appear to modify renal function, blood loss or transfusion when administered to children during the peri-operative period. However, given the lack of statistical power and the very low GRADE quality of evidence, more high-quality RCTs are needed to explore these outcomes.

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Anaesthesia and orphan diseases: anaesthetic management of a patient with X-linked Charcot–Marie–Tooth disease type 1

No abstract available

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Opioid-related genetic polymorphisms do not influence postoperative opioid requirement: A prospective observational study

BACKGROUND Among the various factors that may influence the pharmacological response to opioids, genetic polymorphisms [single nucleotide polymorphisms (SNP)] have generated some interest. OBJECTIVES To examine the influence on morphine dose requirements and adverse events in the postoperative period of four SNP [opioid receptor mu1 (OPRM1), ATP-binding cassette subfamily B, member 1 (ABCB1) ex-21 and ex-26, catechol-o-methyltransferase (COMT)] in candidate genes involved in morphine pharmacodynamics and pharmacokinetics. DESIGN A single centre prospective study. SETTING University Hospital, Paris, France, from 2 January 2007 to 15 November 2011. PATIENTS A total of 438 white adults scheduled for major orthopaedic surgery (spine, hip and knee) under general anaesthesia. The main exclusion criteria were receiving opioids for chronic pain, nonopioid drugs within 2 days prior to surgery, pregnancy, renal insufficiency, sleep apnoea obstruction syndrome, morbid obesity, severe hepatic impairment, cognitive dysfunction. INTERVENTIONS Assays of plasma concentrations of morphine and metabolites (morphine 3-glucuronide and morphine 6-glucuronide) were performed and common polymorphisms in four candidate genes [OPRM1 A118G rs1799971; P-glycoprotein (ABCB1) T3435C (rs1045642) and G2677T/A (rs2032582); COMT Val 158 Met (rs4680)] were analysed. Morphine was titrated by staff in the postanaesthesia care unit (PACU) and in the ward patient-controlled intravenous analgesia was used for 24 h. MAIN OUTCOME MEASURES The dose of morphine required to achieve pain relief and the influence of SNP in genes involved in morphine pharmacodynamics and kinetics on morphine dose requirements. Secondary endpoints were the concentrations of morphine, morphine 6-glucuronide and morphine 3-gluguronide, the proportion of patients requiring a rescue analgesic and the proportion of morphine-related adverse events. RESULTS A total of 404 patients completed the study to final analysis. The mean ± SD morphine dose to achieve pain relief was 15.8 ± 8.8 mg in the PACU and 22.7 ± 18.6 mg during patient-controlled intravenous administration. Morphine-related adverse events were observed in 37%. There was no relationship between any genetic polymorphisms and morphine dose, morphine 3-gluguronide and morphine 6-glucuronide concentration, morphine-related adverse events or pain level. In the PACU only, P-glycoprotein polymorphisms (ex-21; ex-26) were significantly associated with morphine concentration but the prediction of the model was poor (R2 = 0.04) CONCLUSION No major relationship has been demonstrated between SNP of OPRM1, ABCB1, COMT and morphine requirement, pain level or adverse effects in the postoperative period. TRIAL REGISTRATION NCT00822549 (www.clinicaltrials.gov).

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Peri-operative goal-directed therapy: A definitive answer remains elusive

No abstract available

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Toll-like receptor 4 deficient mice do not develop remifentanil-induced mechanical hyperalgesia: An experimental randomised animal study

BACKGROUND Drugs with antagonistic actions on the Toll-like receptor 4 (Tlr4), such as naloxone at ultra low doses, have been used to inhibit opioid-induced hyperalgesia in rodents suggesting the involvement of this receptor and pathway on opioid-induced hyperalgesia. OBJECTIVE The aim of this study was to determine whether mice without the Tlr4 gene (Tlr4−/−) would not develop remifentanil-induced hyperalgesia. DESIGN An experimental randomised animal study. SETTING Experimental Unit, Complutense University of Madrid, Madrid, Spain. ANIMALS Twelve adult female wild-type mice and 12 adult Tlr4−/− mice. INTERVENTIONS Under sevoflurane anaesthesia, a 1-h, constant rate subcutaneous infusion of remifentanil (4 μg kg−1 min−1) or 0.9% saline. MAIN OUTCOME MEASURES Mechanical nociceptive thresholds were evaluated using a von Frey hair test before (baseline) and on days 5, 6 and 7 after treatment. Hyperalgesia was considered to be a decrease in the mechanical nociceptive threshold. Changes in mechanical nociceptive thresholds in the different groups were compared with one-sided paired t tests. RESULTS Baseline mechanical nociceptive thresholds were similar in all groups (2.2 ± 0.1 g). Remifentanil produced a 24% decrease in mechanical nociceptive thresholds in the wild-type mice (1.7 ± 0.0 g, averaged over 3 days, P = 0.00021), whereas the nociceptive thresholds were not changed in Tlr4−/− mice (2.2 ± 0.1 g, P = 0.857) or in mice receiving 0.9% saline (Tlr4−/−, 2.2 ± 0.1 g, P = 0.807; wild-type, 2.2 ± 0.1 g, P = 0.962). CONCLUSION Tlr4 receptor involvement is suggested in the development of remifentanil-induced hyperalgesia in mice. TRIAL REGISTRATION CEA-UCM 107/2012.

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Fasting before elective surgery does not result in hypovolaemia: A prospective, observational study

No abstract available

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Patient factors and outcomes associated with the withdrawal or withholding of life-sustaining therapies in mechanically ventilated brain-injured patients: An observational multicentre study

BACKGROUND Knowledge of the factors associated with the decision to withdraw or withhold life support (WWLS) in brain-injured patients is limited. However, most deaths in these patients may involve such a decision. OBJECTIVES To identify factors associated with the decision to WWLS in brain-injured patients requiring mechanical ventilation who survive the first 24 h in the ICU, and to analyse the outcomes and time to death. DESIGN A retrospective observational multicentre study. SETTINGS Twenty French ICUs in 18 university hospitals. PATIENTS A total of 793 mechanically ventilated brain-injured adult patients. INTERVENTIONS None. MAIN OUTCOME MEASURES Decision to WWLS within 3 months of ICU admission, and death or Glasgow Outcome Scale (GOS) score at day 90. RESULTS A decision to WWLS was made in 171 patients (22%), of whom 89% were dead at day 90. Out of the 247 deaths recorded at day 90, 153 (62%) were observed after a decision to WWLS. The median time between admission and death when a decision to WWLS was made was 10 (5 to 20) days vs. 10 (5 to 26) days when no end-of-life decision was made (P 

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Anaesthesia and orphan diseases: difficult tracheal intubation in a child with Frank–ter Haar syndrome

No abstract available

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Self-confidence and level of knowledge after cardiopulmonary resuscitation training in 14 to 18-year-old schoolchildren: A randomised-interventional controlled study in secondary schools in Germany

BACKGROUND Education of schoolchildren in cardiopulmonary resuscitation (CPR) is a strategic goal for improvement of bystander CPR in society. OBJECTIVE(S) The primary objective was to analyse the impact of CPR training on the resuscitation knowledge and self-confidence of secondary schoolchildren. In addition, independent predictors of improved CPR knowledge and self-confidence were investigated. DESIGN Randomised-interventional controlled study. SETTING Four secondary schools in Germany. PARTICIPANTS Four hundred and twenty-four schoolchildren aged from 14 to 18 years were included into the study. Fifty-one percent were female, and 33% had an immigrant background. INTERVENTION The intervention group received a 90-min CPR training session, whereas controls had no intervention. Levels of knowledge and self-confidence in initiating CPR were analysed by a study questionnaire before (t0), 90 min after (t1) and 6 months after training (t2). MAIN OUTCOME MEASURES Based on the evaluation of study questionnaires, the primary endpoint was to determine the development of resuscitation knowledge and self-confidence in initiating cardiopulmonary resuscitation at survey time-points t0, t1 and t2. RESULTS Schoolchildren in the intervention group (n=207) showed a significantly higher level of knowledge (P 

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Evaluation of transversus abdominis plane block in open appendectomy in paediatrics: Comparison of ropivacaine in two different concentrations

No abstract available

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For beginners in anaesthesia, self-training with an audiovisual checklist improves safety during anaesthesia induction: A randomised, controlled two-centre study

BACKGROUND Beginners in residency programmes in anaesthesia are challenged because working environment is complex, and they cannot rely on experience to meet challenges. During this early stage, residents need rules and structures to guide their actions and ensure patient safety. OBJECTIVE We investigated whether self-training with an electronic audiovisual checklist app on a mobile phone would produce a long-term improvement in the safety-relevant actions during induction of general anaesthesia. DESIGN, SETTING AND PARTICIPANTS During the first month of their anaesthesia residency, we randomised 26 residents to the intervention and control groups. The study was performed between August 2013 and December 2014 in two university hospitals in Germany. INTERVENTION In addition to normal training, the residents of the intervention group trained themselves on well tolerated induction using the electronic checklist for at least 60 consecutive general anaesthesia inductions. MAIN OUTCOME MEASURES After an initial learning phase, all residents were observed during one induction of general anaesthesia. The primary outcome was the number of safety items completed during this anaesthesia induction. Secondary outcomes were similar observations 4 and 8 weeks later. RESULTS Immediately, and 4 weeks after the first learning phase, residents in the intervention group completed a significantly greater number of safety checks than residents in the control group 2.8 [95% confidence interval (CI) 0.4 to 5.1, P = 0.021, Cohen's d = 0.47] and 3.7 (95% CI 1.3 to 6.1, P = 0.003, Cohen's d = 0.61), respectively. The difference between the groups had disappeared by 8 weeks: mean difference in the number of safety checks at 8 weeks was 0.4, 95% CI −2.0 to 2.8, P = 0.736, Cohen's d = 0.07). CONCLUSION The use of an audiovisual self-training checklists improves safety-relevant behaviour in the early stages of a residency training programme in anaesthesia.

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Supraglottic airways: One size does not fit all

No abstract available

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Sleep Spindle Reduction Precedes Seizures by Several Epochs

Sleep and epilepsy have a dynamic reciprocal relationship. Epileptiform discharges are more common in sleep (Malow et al. 1998) and the occurrence of seizures depends on sleep stage (Minecan et al. 2002). We had previously shown that the amount of sleep spindles is reduced before epileptic seizures (Tezer et al. 2014). To understand the time dynamic of this process, we now investigated how long before the seizure this reduction begins.

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miR-570 Inhibits Proliferation, Angiogenesis, and Immune Escape of Hepatocellular Carcinoma

Cancer Biotherapy and Radiopharmaceuticals, Ahead of Print.


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HER2-Based Immunotherapy for Breast Cancer

Cancer Biotherapy and Radiopharmaceuticals, Ahead of Print.


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Rapid eye movement sleep behavior disorder and the link to alpha-synucleinopathies

Publication date: August 2018
Source:Clinical Neurophysiology, Volume 129, Issue 8
Author(s): Daniel A. Barone, Claire Henchcliffe
Rapid eye movement (REM) sleep behavior disorder (RBD) involves REM sleep without atonia in conjunction with a recurrent nocturnal dream enactment behavior, with vocalizations such as shouting and screaming, and motor behaviors such as punching and kicking. Secondary RBD is well described in association with neurological disorders including Parkinson's disease (PD), multiple system atrophy (MSA), and other conditions involving brainstem structures such as tumors. However, RBD alone is now considered to be a potential harbinger of later development of neurodegenerative disorders, in particular PD, MSA, dementia with Lewy bodies (DLB), and pure autonomic failure. These conditions are linked by their underpinning pathology of alpha-synuclein protein aggregation. In RBD, it is therefore important to recognize the potential risk for later development of an alpha-synucleinopathy, and to investigate for other potential causes such as medications. Other signs and symptoms have been described in RBD, such as orthostatic hypotension, or depression. While it is important to recognize these features to improve patient management, they may ultimately provide clinical clues that will lead to risk stratification for phenoconversion. A critical need is to improve our ability to counsel patients, particularly with regard to prognosis. The ability to identify who, of those with RBD, is at high risk for later neurodegenerative disorders will be paramount, and would in addition advance our understanding of the prodromal stages of the alpha-synucleinopathies. Moreover, recognition of at-risk individuals for neurodegenerative disorders may ultimately provide a platform for the testing of possible neuroprotective agents for these neurodegenerative disorders.



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Magnetoencephalography and Ictal SPECT in Patients with Failed Epilepsy Surgery

Publication date: Available online 6 June 2018
Source:Clinical Neurophysiology
Author(s): Riem El Tahry, Z. Irene Wang, Aung Thandar, Irina Podkorytova, Balu Krishnan, Simon Tousseyn, Wu Guiyun, Richard C. Burgess, Andreas Alexopoulos
ObjectiveSelected patients with intractable focal epilepsy who have failed a previous epilepsy surgery can become seizure-free with reoperation. Preoperative evaluation is exceedingly challenging in this cohort. We aim to investigate the diagnostic value of two noninvasive approaches, magnetoencephalography (MEG) and ictal single-photon emission computed tomography (SPECT), in patients with failed epilepsy surgery.MethodsWe retrospectively included a consecutive cohort of patients who failed prior resective epilepsy surgery, underwent re-evaluation including MEG and ictal SPECT, and had another surgery after the re-evaluation. The relationship between resection and localization from each test was determined, and their association with seizure outcomes was analyzed.ResultsA total of 46 patients were included; 46% were seizure-free at 1-year followup after reoperation. Twenty-seven (58%) had a positive MEG and 31 (67%) had a positive ictal SPECT. The resection of MEG foci significantly correlated with seizure-free outcome (p=0.002). Overlap of ictal SPECT hyperperfusion zones with resection significantly correlated with seizure-free outcome in the subgroup of patients with injection time ≤ 20 sec (p=0.03), but did not show significant correlation in the overall cohort (p=0.46) although all injections were ictal. Patients whose MEG and ictal SPECT were concordant on a sublobar level had a significantly higher chance of seizure freedom (p=0.05).ConclusionsMEG alone achieved successful localization in patients with failed epilepsy surgery with a statistical significance.Only ictal SPECT with early injection (≤ 20 sec) had good localization value. Sublobar concordance between both tests correlated significantly with seizure freedom. SPECT can provide essential information in MEG-negative cases and vice versa.SignificanceOur results emphasize the importance of considering a multimodal presurgical evaluation including MEG and SPECT in all patients with a previous failed epilepsy surgery.



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Early differentiation of dementia with Lewy bodies and Alzheimer’s disease: Heart rate variability at mild cognitive impairment stage

Publication date: August 2018
Source:Clinical Neurophysiology, Volume 129, Issue 8
Author(s): Min Seung Kim, Jung Han Yoon, Ji Man Hong
ObjectiveOur study aimed to investigate whether heart rate variability (HRV) could be a useful diagnostic screening tool at MCI (mild cognitive impairment) stage of Dementia with Lewy bodies (DLB) from Alzheimer's disease (AD).MethodsThis retrospective study used a selected sample from Ajou neurological registry. We identified MCI patients who underwent HRV testing at baseline, and who developed probable DLB (MCI-DLB: n = 23) or AD (MCI-AD: n = 32).ResultsThe MCI-DLB group exhibited significantly lower levels of almost all HRV parameters compared with the MCI-AD group. Fronto-executive function and visuospatial abilities were poorer in the MCI-DLB group, whereas the extent of verbal memory impairment was greater in the MCI-AD. Verbal memory score was negatively correlated with overall HRV parameters, and visuospatial function was positively correlated with the frequency domain of HRV. Receiver operating curve area under the curve (AUC) analysis revealed that the low frequency component was the best potential diagnostic marker (AUC = 0.88).ConclusionMCI-DLB patients exhibited greater cardiac autonomic dysfunction (as measured by HRV) and greater fronto-executive and visuospatial deficit compared with MCI-AD patients.SignificanceHRV may be useful method to differentiate DLB from AD in patients with MCI; this would facilitate early disease-specific intervention.



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The value of electrochemical skin conductance measurement using Sudoscan® in the assessment of patients with familial amyloid polyneuropathy

Publication date: August 2018
Source:Clinical Neurophysiology, Volume 129, Issue 8
Author(s): Jean-Pascal Lefaucheur, Hela G. Zouari, Farida Gorram, Tarik Nordine, Thibaud Damy, Violaine Planté-Bordeneuve
ObjectiveTo reappraise the value of electrochemical skin conductance (ESC) measurement by Sudoscan® to assess the distal involvement of small autonomic fibers in familial amyloid polyneuropathy (FAP) due to various transthyretin (TTR) mutations.MethodsESC was measured at both hands and feet in 126 patients with either Val30Met (n = 65) or non-Val30Met (n = 61) TTR mutation. This series included clinically asymptomatic (n = 21) and paucisymptomatic (n = 30) patients, as well as patients with moderate (n = 37) or advanced (n = 38) TTR-FAP.ResultsESC measures did not differ between patients according to the type of TTR variant and were reduced in 24% of clinically asymptomatic patients, 40% of paucisymptomatic patients, 65% of patients with moderate TTR-FAP, and 92% of patients with advanced TTR-FAP. ESC measures were found to correlate with patients' clinical status, especially assessed by the Neuropathy Impairment Score and Karnofsky Performance Status.ConclusionESC measures well correlate with the severity of TTR-FAP and could provide early marker of the disease.SignificanceESC measures appear to be relevant to evaluate distal autonomic involvement in the context of amyloidosis.



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Estimation of voluntary elicited motor neuron discharge using a peripheral nerve collision technique at different contraction strengths

Publication date: August 2018
Source:Clinical Neurophysiology, Volume 129, Issue 8
Author(s): Olivier Scheidegger, Nicole Kamber, Kai Michael Rösler
ObjectiveTo estimate non-invasively the amount, recruitment pattern and discharge frequency of spinal motor neurons (MN) at contraction strength >20% of maximal voluntary contraction (MVC) of small hand muscles.MethodsA peripheral collision technique was used and consisted of supramaximal electrical stimuli at Erb's point and at the wrist, synchronizing descending volleys of action potential during voluntary isometric contractions of the abductor digiti minimi muscle at 20–80% of MVC strength and 1–8 s of contraction duration. Responses of 13 healthy volunteers were quantified and analysed using a recently described model of MN behaviour.ResultsA linear relationship between MN discharge and force generation was noticed with R2 = 0.996, and was confirmed using the simulation results (R2 = 0.997) for contraction durations up to 8 s. For each investigated force level, discharge frequency and recruitment pattern were calculated for individual MN.ConclusionsUsing this method, MN discharge properties during voluntary activity can be estimated non-invasively.SignificanceThis method provides new opportunities for the non-invasive study of MN behaviour, and could be expanded to patients with conduction failure and during fatigue.



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Amplitude- and duration-sensitivity of single-on and double-on neurons to CF-FM stimuli in inferior colliculus of Pratt’s roundleaf bat ( Hipposideros pratti )

Abstract

During hunting, the duration and amplitude of bat's echolocation sounds co-vary. Our previous studies showed the inferior collicular neurons of constant frequency-frequency modulation (CF-FM) bat discharged as single-on (SO) or double-on (DO) responders when stimulated with behavior related CF-FM sounds. However, how the co-varied sound duration and amplitude modulate the response properties of SO and DO neurons were understudied. Therefore, we investigated amplitude- and duration-sensitivity in 121 neurons isolated in the inferior colliculus of CF-FM bat, Pratt's roundleaf bat (Hipposideros pratti). Responses of SO and DO neurons were obtained by in vivo intracellular recordings and examined for different stimulus amplitudes and durations. Our results revealed that response patterns of SO neurons were unaffected by changes in amplitude and duration of CF-FM stimuli. However, the excitability of DO neurons increased with prolonged CF duration and higher amplitude of CF-FM stimuli. These data suggested that the invariance of SO neurons play a key role in detection of Doppler shift and glint-like changes of frequency and amplitude induced by wingbeats of insects. In contrast, amplitude- and duration-sensitivity of DO neurons to CF-FM stimuli is consistent with the systematic changes in these signal parameters during sequential phases of foraging in CF-FM bats.

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Vasomotion as an oscillatory sign of functional impairment in the human internal thoracic artery: A study based on risk factors and vessel reactivity

Experimental Physiology, EarlyView.


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Neuroprotection by post‐stroke administration of an oral formulation of angiotensin‐(1–7) in ischaemic stroke

Experimental Physiology, Volume 103, Issue 6, Page 916-923, 1 June 2018.


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A single day of bed rest, irrespective of energy balance, does not affect skeletal muscle gene expression or insulin sensitivity

Experimental Physiology, Volume 103, Issue 6, Page 860-875, 1 June 2018.


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Eccentric exercise increases circulating fibroblast activation protein α but not bioactive fibroblast growth factor 21 in healthy humans

Experimental Physiology, Volume 103, Issue 6, Page 876-883, 1 June 2018.


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Influence of fitness and age on the endothelial response to acute inflammation

Experimental Physiology, Volume 103, Issue 6, Page 924-931, 1 June 2018.


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Establishment of a radiotelemetric recording technique in mice to investigate gastric slow waves: Modulatory role of putative neurotransmitter systems

Experimental Physiology, Volume 103, Issue 6, Page 827-837, 1 June 2018.


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Editorial Board

Experimental Physiology, Volume 103, Issue 6, Page 934-936, 1 June 2018.


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Peripheral and central functions of monoamines: Can we use changes in plasma monoamine concentrations as a valid indicator of changes in the brain?

Experimental Physiology, Volume 103, Issue 6, Page 932-933, 1 June 2018.


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Effects of ipsilateral and contralateral fatigue and muscle blood flow occlusion on the complexity of knee‐extensor torque output in humans

Experimental Physiology, EarlyView.


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Brachial artery endothelial function is unchanged after acute sprint interval exercise in sedentary men and women

Experimental Physiology, EarlyView.


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Mitoprotection preserves the renal vasculature in porcine metabolic syndrome

Experimental Physiology, EarlyView.


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The effect of ischaemic preconditioning on central and peripheral fatiguing mechanisms in humans following sustained maximal isometric exercise

Experimental Physiology, EarlyView.


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The state of preoperative pediatric services in England

Pediatric Anesthesia, Volume 28, Issue 5, Page 477-478, May 2018.


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Visiting teams: Experts or colleagues?

Pediatric Anesthesia, Volume 28, Issue 5, Page 380-381, May 2018.


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Guidelines and checklists for short‐term missions in global pediatric surgery

Pediatric Anesthesia, Volume 28, Issue 5, Page 392-410, May 2018.


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Issue Information

Pediatric Anesthesia, Volume 28, Issue 5, Page i-iii,375, May 2018.


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Improving venous thromboembolism management in children undergoing surgery

Pediatric Anesthesia, Volume 28, Issue 5, Page 378-379, May 2018.


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In this issue: May 2018

Pediatric Anesthesia, Volume 28, Issue 5, Page 377-377, May 2018.


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Perioperative intravenous pediatric fluid: is there still a gap between theory and practice?

Pediatric Anesthesia, Volume 28, Issue 5, Page 476-477, May 2018.


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Multimodal diaphragmatic monitoring in pediatric cardiac surgery

Pediatric Anesthesia, Volume 28, Issue 5, Page 475-476, May 2018.


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Postoperative analgesia for craniosynostosis reconstruction: Scalp nerve block or local anesthetic infiltration?

Pediatric Anesthesia, Volume 28, Issue 5, Page 474-475, May 2018.


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Evaluation of anesthesia in endoscopic strip craniectomy: A review of 121 patients

Pediatric Anesthesia, EarlyView.


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Fracture Improvement by Reinforcing the Structure of Acrylonitrile Butadiene Styrene Parts Manufactured by Fused Deposition Modeling

3D Printing and Additive Manufacturing, Ahead of Print.


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Intestinal absorption of glucose in mice as determined by positron emission tomography

The Journal of Physiology, EarlyView.


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How does spinal cord injury lead to obstructive sleep apnoea?

The Journal of Physiology, EarlyView.


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Developmental programming of renal function: nephron endowment and beyond

The Journal of Physiology, EarlyView.


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Waking up too early – the consequences of preterm birth on sleep development

The Journal of Physiology, EarlyView.


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Effect of movement‐related pain on behaviour and corticospinal excitability changes associated with arm movement preparation

The Journal of Physiology, EarlyView.


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Issue Information

The Journal of Physiology, Volume 596, Issue 11, Page 2017-2018, 1 June 2018.


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Carbonic anhydrase is not a relevant nitrite reductase or nitrous anhydrase in the lung

The Journal of Physiology, EarlyView.


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Protective role of Parkin in skeletal muscle contractile and mitochondrial function

The Journal of Physiology, EarlyView.


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Impaired modulation of postjunctional α1‐ but not α2‐adrenergic vasoconstriction in contracting forearm muscle of postmenopausal women

The Journal of Physiology, EarlyView.


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The effect of lifelong exercise frequency on arterial stiffness

The Journal of Physiology, EarlyView.


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Guinea pig models for translation of the developmental origins of health and disease hypothesis into the clinic

The Journal of Physiology, EarlyView.


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Functional up‐regulation of the M‐current by retigabine contrasts hyperexcitability and excitotoxicity on rat hypoglossal motoneurons

The Journal of Physiology, EarlyView.


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Identification of uterine pacemaker regions at the myometrial–placental interface in the rat

The Journal of Physiology, EarlyView.


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Restricting branched‐chain amino acids: an approach to improve metabolic health

The Journal of Physiology, EarlyView.


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Getting to the heart of the matter: understanding cardiovascular limitations at high altitude

The Journal of Physiology, EarlyView.


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The force and stiffness of myosin motors in the isometric twitch of a cardiac trabecula and the effect of the extracellular calcium concentration

The Journal of Physiology, EarlyView.


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Afferent neural feedback overrides the modulating effects of arousal, hypercapnia and hypoxaemia on neonatal cardiorespiratory control

The Journal of Physiology, EarlyView.


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A working model for hypothermic neuroprotection

The Journal of Physiology, EarlyView.


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Differential diagnosis of jaw pain using informatics technology

Journal of Oral Rehabilitation, EarlyView.


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Th1/Th17/Th22 immune response and their association with joint pain, imagenological bone loss, RANKL expression and osteoclast activity in temporomandibular joint osteoarthritis: A preliminary report

Journal of Oral Rehabilitation, EarlyView.


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Influence of backrest angle on swallowing musculature activity and physical strain during the head lift exercise in elderly women compared with young women

Journal of Oral Rehabilitation, EarlyView.


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Co‐contraction behaviour of masticatory and neck muscles during tooth grinding

Journal of Oral Rehabilitation, EarlyView.


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Muscle hardness and masticatory myofascial pain: Assessment and clinical relevance

Journal of Oral Rehabilitation, EarlyView.


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The Effect of Acute Caffeine Ingestion on Endurance Performance: A Systematic Review and Meta–Analysis

Abstract

Background

Caffeine is a widely used ergogenic aid with most research suggesting it confers the greatest effects during endurance activities. Despite the growing body of literature around the use of caffeine as an ergogenic aid, there are few recent meta-analyses that quantitatively assess the effect of caffeine on endurance exercise.

Objectives

To summarise studies that have investigated the ergogenic effects of caffeine on endurance time-trial performance and to quantitatively analyse the results of these studies to gain a better understanding of the magnitude of the ergogenic effect of caffeine on endurance time-trial performance.

Methods

A systematic review was carried out on randomised placebo-controlled studies investigating the effects of caffeine on endurance performance and a meta-analysis was conducted to determine the ergogenic effect of caffeine on endurance time-trial performance.

Results

Forty-six studies met the inclusion criteria and were included in the meta-analysis. Caffeine has a small but evident effect on endurance performance when taken in moderate doses (3–6 mg/kg) as well as an overall improvement following caffeine compared to placebo in mean power output (3.03 ± 3.07%; effect size = 0.23 ± 0.15) and time-trial completion time (2.22 ± 2.59%; effect size = 0.41 ± 0.2). However, differences in responses to caffeine ingestion have been shown, with two studies reporting slower time-trial performance, while five studies reported lower mean power output during the time–trial.

Conclusion

Caffeine can be used effectively as an ergogenic aid when taken in moderate doses, such as during sports when a small increase in endurance performance can lead to significant differences in placements as athletes are often separated by small margins.

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Table of Contents, Volume 176A, Number 6, June 2018

American Journal of Medical Genetics Part A, Volume 176, Issue 6, Page 1275-1278, June 2018.


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Comprehensive Genetic Screening Recommended for Nonsyndromic Cleft Lip/Palate: Even in the absence of any signs of a syndrome, patients with cleft lip/palate may still carry a mutation in a gene linked to a syndrome and should receive comprehensive genetic testing

American Journal of Medical Genetics Part A, Volume 176, Issue 6, Page 1280-1282, June 2018.


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Cover Image, Volume 176A, Number 6, June 2018

American Journal of Medical Genetics Part A, Volume 176, Issue 6, Page i-i, June 2018.


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In this issue

American Journal of Medical Genetics Part A, Volume 176, Issue 6, Page 1283-1283, June 2018.


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Publication schedule for 2018

American Journal of Medical Genetics Part A, Volume 176, Issue 6, Page 1279-1279, June 2018.


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Oligonucleotides Hold Promise as a Therapy for Friedreich's Ataxia: Friedreich's ataxia currently is incurable, but synthetic antisense oligonucleotides have demonstrated promising results in increasing frataxin gene expression and restoring it to normal levels

American Journal of Medical Genetics Part A, Volume 176, Issue 6, Page 1282-1282, June 2018.


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MAP2K2 mutation as a cause of cardio‐facio‐cutaneous syndrome in an infant with a severe and fatal course of the disease

American Journal of Medical Genetics Part A, EarlyView.


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Radon and lung cancer: What does the public really know?

Publication date: December 2018
Source:Journal of Environmental Radioactivity, Volume 192
Author(s): Nancy Vogeltanz-Holm, Gary G. Schwartz
Radon causes approximately 21,000 deaths annually from lung cancer, making it the second most important cause of lung cancer after smoking. However, the extent of public knowledge about radon is unclear. We systematically reviewed the epidemiologic literature in order to assay the public's understanding about radon and specifically, whether radon is known to cause lung cancer. Radon knowledge has most often been gauged via telephone and in-person responses to the question, "Have you heard about radon?" Our review of 20 such studies reveals that although many individuals have "heard about" radon, many segments of the population, particularly individuals younger than thirty and those with less education, do not know what radon is. Of those who have heard about radon, the majority of respondents in many studies did not know that radon causes lung cancer. Conversely, misinformation about radon is common; approximately 50% of respondents in many studies reported the erroneous belief that radon causes headaches. This suggests that the public has confused the effects of radon with those of carbon monoxide. Rates of radon testing and mitigation are correpondingly low and appear to reflect cognitive defense mechanisms by which individuals believe that their risks from radon are lower than the risks faced by others. Our review suggests that public information materials about radon require revision. Specifically, these should emphasize that radon causes lung cancer and that household carbon monoxide detectors do not detect it. Radon education provided by realtors at the time of residential home sales may be a promising venue to increase radon testing and remediation.



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Low dose or low dose rate ionizing radiation-induced health effect in the human

Publication date: December 2018
Source:Journal of Environmental Radioactivity, Volume 192
Author(s): Feng Ru Tang, Konstantin Loganovsky
The extensive literature review on human epidemiological studies suggests that low dose ionizing radiation (LDIR) (≤100 mSv) or low dose rate ionizing radiation (LDRIR) (<6mSv/H) exposure could induce either negative or positive health effects. These changes may depend on genetic background, age (prenatal day for embryo), sex, nature of radiation exposure, i.e., acute or chronic irradiation, radiation sources (such as atomic bomb attack, fallout from nuclear weapon test, nuclear power plant accidents, ⁶⁰Co-contaminated building, space radiation, high background radiation, medical examinations or procedures) and radionuclide components and human epidemiological experimental designs. Epidemiological and clinical studies show that LDIR or LDRIR exposure may induce cancer, congenital abnormalities, cardiovascular and cerebrovascular diseases, cognitive and other neuropsychiatric disorders, cataracts and other eye and somatic pathology (endocrine, bronchopulmonary, digestive, etc). LDIR or LDRIR exposure may also reduce mutation and cancer mortality rates. So far, the mechanisms of LDIR- or LDRIR -induced health effect are poorly understood. Further extensive studies are still needed to clarify under what circumstances, LDIR or LDRIR exposure may induce positive or negative effects, which may facilitate development of new therapeutic approaches to prevent or treat the radiation-induced human diseases or enhance radiation-induced positive health effect.



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Modeling species richness and abundance of phytoplankton and zooplankton in radioactively contaminated water bodies

Publication date: December 2018
Source:Journal of Environmental Radioactivity, Volume 192
Author(s): Igor Shuryak
Water bodies polluted by the Mayak nuclear plant in Russia provide valuable information on multi-generation effects of radioactive contamination on freshwater organisms. For example, lake Karachay was probably the most radioactive lake in the world: its water contained ∼2 × 10⁷ Bq/L of radionuclides and estimated dose rates to plankton exceeded 5 Gy/h. We performed quantitative modeling of radiation effects on phytoplankton and zooplankton species richness and abundance in Mayak-contaminated water bodies. Due to collinearity between radioactive contamination, water body size and salinity, we combined these variables into one (called HabitatFactors). We employed a customized machine learning approach, where synthetic noise variables acted as benchmarks of predictor performance. HabitatFactors was the only predictor that outperformed noise variables and, therefore, we used it for parametric modeling of plankton responses. Best-fit model predictions suggested 50% species richness reduction at HabitatFactors values corresponding to dose rates of 10⁴-10⁵ μGy/h for phytoplankton, and 10³-10⁴ μGy/h for zooplankton. Under conditions similar to those in lake Karachay, best-fit models predicted 81-98% species richness reductions for various taxa (Cyanobacteria, Bacillariophyta, Chlorophyta, Rotifera, Cladocera and Copepoda), ∼20-300-fold abundance reduction for total zooplankton, but no abundance reduction for phytoplankton. Rotifera was the only taxon whose fractional abundance increased with contamination level, reaching 100% in lake Karachay, but Rotifera species richness declined with contamination level, as in other taxa. Under severe radioactive and chemical contamination, one species of Cyanobacteria (Geitlerinema amphibium) dominated phytoplankton, and rotifers from the genus Brachionus dominated zooplankton. The modeling approaches proposed here are applicable to other radioecological data sets. The results provide quantitative information and easily interpretable model parameter estimates for the shapes and magnitudes of freshwater plankton responses to a wide range of radioactive contamination levels.



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International Organization of Psychophysiology

Publication date: July 2018
Source:International Journal of Psychophysiology, Volume 129





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Editorial Board

Publication date: July 2018
Source:International Journal of Psychophysiology, Volume 129





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Spatiotemporal brain dynamics underlying attentional bias modifications

Publication date: Available online 5 June 2018
Source:International Journal of Psychophysiology
Author(s): Etienne Sallard, Lea Hartmann, Radek Ptak, Lucas Spierer
Exaggerated attentional biases toward specific elements of the environment contribute to the maintenance of several psychiatric conditions, such as biases to threatening faces in social anxiety. Although recent literature indicates that attentional bias modification may constitute an effective approach for psychiatric remediation, the underlying neurophysiological mechanisms remain unclear. We addressed this question by recording EEG in 24 healthy participants performing a modified dot-probe task in which pairs of neutral cues (colored shapes) were replaced by probe stimuli requiring a discrimination judgment. To induce an attentional bias toward or away from the cues, the probes were systematically presented either at the same or at the opposite position of a specific cue color. This paradigm enabled participants to spontaneously develop biases to initially unbiased, neutral cues, as measured by the response speed to the probe presented after the cues. Behavioral result indicated that the ABM procedure induced approach and avoidance biases. The influence of ABM on inhibitory control was assessed in a separated Go/NoGo task: Changes in AB did not influence participants' capacity to inhibit their responses to the cues. Attentional bias modification was associated with a topographic modulation of event-related potentials already 50–84 ms following the onset of the cues. Statistical analyses of distributed electrical source estimations revealed that the development of attentional biases was associated with decreased activity in the left temporo-parieto-occipital junction. These findings suggest that attentional bias modification affects early sensory processing phases related to the extraction of information based on stimulus saliency.



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