Κυριακή, 10 Σεπτεμβρίου 2017

Chromatin: Probing a piRNA paradox



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Harnessing ancient genomes to study the history of human adaptation

Ancient genomes can inform our understanding of the history of human adaptation through the direct tracking of changes in genetic variant frequency across different geographical locations and time periods. The authors review recent ancient DNA analyses of human, archaic hominin, pathogen, and domesticated animal and plant genomes, as well as the insights gained regarding past human evolution and behaviour.

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Neurophysiological localisation of ulnar neuropathy at the elbow: validation of diagnostic criteria developed by a taskforce of the Danish Society of Clinical Neurophysiology

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Publication date: Available online 9 September 2017
Source:Clinical Neurophysiology
Author(s): K. Pugdahl, S. Beniczky, B. Wanscher, B. Johnsen, E.Qerama, M. Ballegaard, K. Benedek, A. Juhl, M. Ööpik, P. Selmar, J. Sønderborg, D. Terney, A. Fuglsang-Frederiksen
ObjectiveThis study validates consensus criteria for localisation of ulnar neuropathy at elbow (UNE) developed by a taskforce of the Danish Society of Clinical Neurophysiology and compares them to the existing criteria from the American Association of Neuromuscular and Electrodiagnostic Medicine (AANEM). The Danish criteria are based on combinations of conduction slowing in the segments of the elbow and forearm expressed in Z-scores, and difference between the segments in m/s. Examining fibres to several muscles and sensory fibres can increase the certainty of the localisation.MethodsDiagnostic accuracy for UNE was evaluated on 181 neurophysiological studies of the ulnar nerve from 171 peer-reviewed patients from a mixed patient-group. The diagnostic reference standard was the consensus diagnosis based on all available clinical, laboratory, and electrodiagnostic information reached by a group of experienced Danish neurophysiologists.ResultsThe Danish criteria had high specificity (98.4%) and positive predictive value (PPV) (95.2%) and fair sensitivity (76.9%). Compared to the AANEM criteria, the Danish criteria had higher specificity (p < 0.001) and lower sensitivity (p=0.02).ConclusionsThe Danish consensus criteria for UNE are very specific and have high PPV.SignificanceThe Danish criteria for UNE are reliable and well suited for use in different centres as they are based on Z-scores.



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Testing the effects of adolescent alcohol use on adult conflict-related theta dynamics

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Publication date: Available online 9 September 2017
Source:Clinical Neurophysiology
Author(s): Jeremy Harper, Stephen M. Malone, William G. Iacono
ObjectiveAdolescent alcohol use (AAU) is associated with brain anomalies, but less is known about long-term neurocognitive effects. Despite theoretical models linking AAU to diminished cognitive control, empirical work testing this relationship with specific cognitive control neural correlates (e.g., prefrontal theta-band EEG dynamics) remains scarce. A longitudinal twin design was used to test the hypothesis that greater AAU is associated with reduced conflict-related EEG theta-band dynamics in adulthood, and to examine the genetic/environmental etiology of this association.MethodsIn a large (N = 718) population-based prospective twin sample, AAU was assessed at ages 11/14/17. Twins completed a flanker task at age 29 to elicit EEG theta-band medial frontal cortex (MFC) power and medial–dorsal prefrontal cortex (MFC-dPFC) connectivity. Two complementary analytic methods (cotwin control analysis; biometric modeling) were used to disentangle the genetic/shared environmental risk towards AAU from possible alcohol exposure effects on theta dynamics.ResultsAAU was negatively associated with adult cognitive control-related theta-band MFC power and MFC-dPFC functional connectivity. Genetic influences primarily underlie these associations.ConclusionsFindings provide strong evidence that genetic factors underlie the comorbidity between AAU and diminished cognitive control-related theta dynamics in adulthood.SignificanceConflict-related theta-band dynamics appear to be candidate brain-based endophenotypes/mechanisms for AAU.



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Adaptation of feedforward movement control is abnormal in patients with cervical dystonia and tremor

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Publication date: Available online 9 September 2017
Source:Clinical Neurophysiology
Author(s): Laura Avanzino, Andrea Ravaschio, Giovanna Lagravinese, Gaia Bonassi, Giovanni Abbruzzese, Elisa Pelosin
ObjectiveIt is under debate whether the cerebellum plays a role in dystonia pathophysiology and in the expression of clinical phenotypes. We investigated a typical cerebellar function (anticipatory movement control) in patients with cervical dystonia (CD) with and without tremor.MethodsTwenty patients with CD, with and without tremor, and 17 healthy controls were required to catch balls of different load: 15 trials with a light ball, 25 trials with a heavy ball (adaptation) and 15 trials with a light ball (post-adaptation). Arm movements were recorded using a motion capture system. We evaluated: i) the anticipatory adjustment (just before the impact); ii) the extent and rate of the adaptation (at the impact) and (iii) the aftereffect in the post-adaptation phase.ResultsThe anticipatory adjustment was reduced during adaptation in CD patients with tremor respect to CD patients without tremor and controls. The extent and rate of adaptation and the aftereffect in the post-adaptation phase were smaller in CD with tremor than in controls and CD without tremor.ConclusionPatients with cervical dystonia and tremor display an abnormal predictive movement control.SignificanceOur findings point to a possible role of cerebellum in the expression of a clinical phenotype in dystonia.



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A genome-wide association study identifies genomic loci associated with backfat thickness, carcass weight, and body weight in two commercial pig populations

Abstract

Growth and fatness traits are economically important in the pig industry. To dissect the genetic architecture of these traits in commercial pigs, we conducted a genome-wide association study (GWAS) for carcass weight, backfat thickness, and body weight in two commercial populations: Duroc × (Landrace × Yorkshire) (DLY) and Duroc populations. To enhance the detection power, three GWAS approaches including single-trait GWAS, multi-trait GWAS and meta-analysis were used in this study. A total of 13 suggestive loci were identified on nine chromosomes. The most significant locus was detected at 272.05 Mb on SSC1, and it was associated with backfat thickness at the first rib in the DLY population. Three genes at the identified loci (TBC1D1, BAAT and PHLPP1) were highlighted as functionally plausible candidate genes for pig growth and fatness traits. Genome-wide significant locus was not evidenced in this study, indicating that large populations are required to identify QTL with minor effects on growth and fatness traits in commercial pig populations, in which intensively artificial selections have been imposed on these traits and small genetical variances usually retain in these traits.



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Treating pediatric neuromuscular disorders: The future is now

Pediatric neuromuscular diseases encompass all disorders with onset in childhood and where the primary area of pathology is in the peripheral nervous system. These conditions are largely genetic in etiology, and only those with a genetic underpinning will be presented in this review. This includes disorders of the anterior horn cell (e.g., spinal muscular atrophy), peripheral nerve (e.g., Charcot–Marie–Tooth disease), the neuromuscular junction (e.g., congenital myasthenic syndrome), and the muscle (myopathies and muscular dystrophies). Historically, pediatric neuromuscular disorders have uniformly been considered to be without treatment possibilities and to have dire prognoses. This perception has gradually changed, starting in part with the discovery and widespread application of corticosteroids for Duchenne muscular dystrophy. At present, several exciting therapeutic avenues are under investigation for a range of conditions, offering the potential for significant improvements in patient morbidities and mortality and, in some cases, curative intervention. In this review, we will present the current state of treatment for the most common pediatric neuromuscular conditions, and detail the treatment strategies with the greatest potential for helping with these devastating diseases.



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Intrafamilial variability of the triphalangeal thumb phenotype in a Dutch population: Evidence for phenotypic progression over generations?

Triphalangeal thumbs (TPTs) are regularly caused by mutations in the ZRS in LMBR1. Phenotypic variability can be present in TPT-families. However, recent observations suggest an increased occurrence of severe phenotypes in the Dutch TPT-population. Therefore, the aim of this study is to investigate the progression of the clinical severity of TPT-phenotype through generations. Index patients from a Dutch TPT-population were identified. A 105C>G mutation in the ZRS has previously been confirmed in this population. Questionnaires regarding family occurrence and phenotypes were distributed. Subsequently, families were visited to validate the phenotype. Both occurrence and inheritance patterns of the TPT-phenotype were analyzed through multiple generations. One hundred seventy patients with TPT were identified from 11 families. When considering all 132 segregations (parent-to-child transmission), 54% of the segregations produced a stable phenotype, 38% produced a more severe phenotype while only 8% of the phenotype was less severe when compared to the affected parents. Overall, 71% of the index patients had a more severe phenotype compared to their great-grandparent. Although all family members share an identical mutation in the ZRS (105C>G), it does not explain the wide phenotypic range of anomalies. Our observational study provides better estimations for counseling and provides new insights in the long-range regulation of SHH by the ZRS-enhancer. In the current study, we provide evidence that the assumed variability in TPT-phenotype is not random, but in fact it is more likely that the expression becomes more severe in the next generation. Therefore, we observe a pattern that resembles phenotypic anticipation in TPT-families.



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Injection Volume and Anesthetic Effect in Serratus Plane Block.

Background and Objectives: Serratus plane block is performed for analgesia of the anterior chest wall. However, there has been no study concerning the appropriate volume for this block. This prospective randomized controlled study assesses the dermatomal spread and analgesic effects of serratus plane block. Methods: Ultrasound-guided serratus plane block was performed for breast cancer surgery. The patients were randomly assigned to receive 20 or 40 mL of 0.375% ropivacaine. The primary end point was the number of affected dermatomes as assessed by cold test and pinprick test 20 minutes after the block procedure. Secondary end points were the time until the first postoperative analgesic rescue, adverse effects, and complications. Results: The number of affected dermatomes assessed by the cold test for patients receiving 40 mL of 0.375% ropivacaine was significantly larger than that for patients receiving 20 mL (P = 0.002; 6 [5-7] vs 4 [3-4] dermatomes). Similarly, with the pinprick test, the affected area was larger for the 40 mL group than for the 20 mL group (P = 0.009; 4 [2-6] vs 2 [1-3] dermatomes). There were no differences between the 2 groups in secondary end points. Conclusions: Ultrasound-guided serratus plane block spread in the craniocaudal direction is more widespread with 40 mL than with 20 mL of 0.375% ropivacaine. The time until the first postoperative analgesic rescue dose was not extended by a larger volume of injection. Clinical Trials Registration: UMIN Clinical Trials Registry (identifier UMIN000016549). Copyright (C) 2017 by American Society of Regional Anesthesia and Pain Medicine.

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Mimicking Own Mother's Milk for Preterms - are We Getting Closer?.

No abstract available

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Response to Letters Regarding the NASPGHAN NAFLD Guidelines.

No abstract available

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Mucosal Cytokine Profiles After Induction Therapy With Granulocyte/Monocyte Apheresis in New Onset Inflammatory Colitis.

Granulocyte/Monocyte Apheresis (GMA) selectively removes circulating granulocytes and monocytes; important producers of pro-inflammatory cytokines. Seven children with new onset inflammatory bowel disease (IBD) colitis were treated with GMA together with mesalazine, and had significant decreases in PUCAI (p = 0.018) and Mayo endoscopic score (p = 0.013). We investigated the colonic mucosal cytokine profiles (CMCP) (analyzed with real-time polymerase chain reaction, (PCR)), before and after induction treatment, and in 6 non-IBD controls. Significant decreases were seen in CSF-2 (p = 0.018), TNF-[alpha] (p = 0.028), IL-23[alpha] (p = 0.043), IL-1[beta] (p = 0.028), IL-36[gamma] (p = 0.018), IL-10 (p = 0.028), and TGF[beta]1 (p = 0.043) after treatment. In 6 non-IBD controls there were significant lower levels of IL-12[beta] (p = 0.023) and IL-23[alpha] (p = 0.046) compared to the IBD patients at onset, and IL-22 (p = 0.088) and IL-36[gamma] (p = 0.062) showed lower values without reaching significant differences. We speculate that the decreases in CMCP after treatment may explain the observed clinical efficacy in the GMA treated IBD children. (C) 2017 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology,

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Delineating the Trajectory of Cognitive Recovery From General Anesthesia in Older Adults: Design and Rationale of the TORIE (Trajectory of Recovery in the Elderly) Project.

BACKGROUND: Mechanistic aspects of cognitive recovery after anesthesia and surgery are not yet well characterized, but may be vital to distinguishing the contributions of anesthesia and surgery in cognitive complications common in the elderly such as delirium and postoperative cognitive dysfunction. This article describes the aims and methodological approach to the ongoing study, Trajectory of Recovery in the Elderly (TORIE), which focuses on the trajectory of cognitive recovery from general anesthesia. METHODS: The study design employs cognitive testing coupled with neuroimaging techniques such as functional magnetic resonance imaging, diffusion tensor imaging, and arterial spin labeling to characterize cognitive recovery from anesthesia and its biological correlates. Applying these techniques to a cohort of age-specified healthy volunteers 40-80 years of age, who are exposed to general anesthesia alone, in the absence of surgery, will assess cognitive and functional neural network recovery after anesthesia. Imaging data are acquired before, during, and immediately after anesthesia, as well as 1 and 7 days after. Detailed cognitive data are captured at the same time points as well as 30 days after anesthesia, and brief cognitive assessments are repeated at 6 and 12 months after anesthesia. RESULTS: The study is underway. Our primary hypothesis is that older adults may require significantly longer to achieve cognitive recovery, measured by Postoperative Quality of Recovery Scale cognitive domain, than younger adults in the immediate postanesthesia period, but all will fully recover to baseline levels within 30 days of anesthesia exposure. Imaging data will address systems neuroscience correlates of cognitive recovery from general anesthesia. CONCLUSIONS: The data acquired in this project will have both clinical and theoretical relevance regardless of the outcome by delineating the mechanism behind short-term recovery across the adult age lifespan, which will have major implications for our understanding of the effects of anesthetic drugs. (C) 2017 International Anesthesia Research Society

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Postoperative Complications Affecting Survival After Cardiac Arrest in General Surgery Patients.

BACKGROUND: Postoperative cardiac arrest is uncommon but associated with a high mortality risk in general surgery patients and is often preceded by postoperative complications. The relationships between previous complications and mortality after cardiac arrest in general surgery patients have not been completely evaluated. METHODS: retrospective, observational cohort of general surgery in patients with cardiac arrest occurring after postoperative day (POD) #0 (and up to POD #30) was obtained from the 2012-2013 American College of Surgeons National Surgical Quality Improvement Program. Previous complication was defined as at least one of the following occurring before the POD of cardiac arrest: (1) acute kidney injury; (2) acute respiratory failure; (3) deep vein thrombosis/pulmonary embolus; (4) myocardial infarction; (5) sepsis/septic shock; (6) stroke; and/or (7) transfusion. The associations between previous complications and mortality after cardiac arrest were assessed using Cox proportional hazards models that adjusted for preoperative risk factors. RESULTS: Of 1352 patients with postoperative cardiac arrest, 746 patients (55%) developed at least 1 complication before cardiac arrest. Overall 30-day mortality was 71% (958/1352) and was similar among patients with and without a previous complication (71% [533/746] vs 70% [425/606]; P = .60). Patients with previous complications did not have an increased risk of mortality, compared to patients without previous complications, in adjusted Cox models (hazard ratio, 1.03; 95% confidence interval, 0.90-1.18; P = .70). In addition, no previous complication was associated with increased mortality risk in individual analyses. CONCLUSIONS: Among general surgery patients with cardiac arrest after POD #0, complications occurring before cardiac arrest are common but are not associated with increased mortality risk. (C) 2017 International Anesthesia Research Society

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The Assignment of American Society of Anesthesiologists Physical Status Classification for Adult Polytrauma Patients: Results From a Survey and Future Considerations.

BACKGROUND: The American Society of Anesthesiologists (ASA) physical status (PS) classification system assesses the preoperative health of patients. Previous studies demonstrated poor interrater reliability and variable ASA PS scores, especially in trauma scenarios. There are few studies that evaluated the assignment of ASA PS scores in trauma patients and no studies that evaluated ASA PS assignment in severely injured adult polytrauma patients. Our objective was to assess interrater reliability and identify sources of discrepancy among anesthesiologists and trauma surgeons in designating ASA PS scores to adult polytrauma patients. METHODS: A link to an online survey containing questions assessing attitudes regarding ASA PS classification, demographic information, and 8 fictional trauma cases was e-mailed to anesthesiologists and trauma surgeons. The participants were asked to assign an ASA PS score to each scenario and explain their choice. Rater-versus-reference and interrater reliability, beyond that expected by chance, among respondents was analyzed using the Fleiss kappa analysis. RESULTS: A total of 349 participants completed the survey. All 8 cases had inconsistent ASA PS scores; several cases had scores ranging from I to VI and variable emergency (E) designations. Using weighted kappa (Kw) analysis for a subset of 201 respondents (101 trauma surgeons [S] and 100 anesthesiologists [A]), we found moderate (Kw = 0.63; SE = 0.024; 95% confidence interval, 0.594-0.666; P

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Radiofrequency Treatments on the Spine, 1st ed.

No abstract available

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Descriptive Statistics: Reporting the Answers to the 5 Basic Questions of Who, What, Why, When, Where, and a Sixth, So What?.

Descriptive statistics are specific methods basically used to calculate, describe, and summarize collected research data in a logical, meaningful, and efficient way. Descriptive statistics are reported numerically in the manuscript text and/or in its tables, or graphically in its figures. This basic statistical tutorial discusses a series of fundamental concepts about descriptive statistics and their reporting. The mean, median, and mode are 3 measures of the center or central tendency of a set of data. In addition to a measure of its central tendency (mean, median, or mode), another important characteristic of a research data set is its variability or dispersion (ie, spread). In simplest terms, variability is how much the individual recorded scores or observed values differ from one another. The range, standard deviation, and interquartile range are 3 measures of variability or dispersion. The standard deviation is typically reported for a mean, and the interquartile range for a median. Testing for statistical significance, along with calculating the observed treatment effect (or the strength of the association between an exposure and an outcome), and generating a corresponding confidence interval are 3 tools commonly used by researchers (and their collaborating biostatistician or epidemiologist) to validly make inferences and more generalized conclusions from their collected data and descriptive statistics. A number of journals, including Anesthesia & Analgesia, strongly encourage or require the reporting of pertinent confidence intervals. A confidence interval can be calculated for virtually any variable or outcome measure in an experimental, quasi-experimental, or observational research study design. Generally speaking, in a clinical trial, the confidence interval is the range of values within which the true treatment effect in the population likely resides. In an observational study, the confidence interval is the range of values within which the true strength of the association between the exposure and the outcome (eg, the risk ratio or odds ratio) in the population likely resides. There are many possible ways to graphically display or illustrate different types of data. While there is often latitude as to the choice of format, ultimately, the simplest and most comprehensible format is preferred. Common examples include a histogram, bar chart, line chart or line graph, pie chart, scatterplot, and box-and-whisker plot. Valid and reliable descriptive statistics can answer basic yet important questions about a research data set, namely: "Who, What, Why, When, Where, How, How Much?" (C) 2017 International Anesthesia Research Society

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Low FODMAP: A Preliminary Strategy to Reduce Gastrointestinal Distress in Athletes.

Introduction: Gastrointestinal (GI) distress in endurance athletes is prevalent and detrimental to performance. Adverse GI symptomatology can be analogous with irritable bowel syndrome, where fermentable oligosaccharide, disaccharide, monosaccharide and polyols (FODMAP) reduction has demonstrated efficacy. This study investigated the effects of low FODMAP (LFOD) diet on GI distress parameters in runners with a history of non-clinical exercise-associated GI symptoms. Methods: Eleven recreationally competitive runners (5 males, 6 females; 5km personal best 23:00+/-4:02 min:sec) participated in the study. Runners were allocated to a randomized 6-day LFOD or high FODMAP (HFOD) diet separated by a 1-day wash-out in a controlled, single-blinded cross-over study. In each period participants completed two strenuous running sessions consisting of 5x1000m and a 7km threshold run. GI symptoms (during-exercise and daily) and the Daily Analysis of Life Demand for Athletes (DALDA) questionnaires were completed. Area under the curve (AUC) was calculated for daily GI symptoms across each dietary period and analysis was conducted using multilevel mixed-effects linear regression for comparison between the two diets. Results: A significantly smaller AUC for daily GI symptoms.6-days-1 during the LFOD compared to HFOD (mean difference -13.4, 95% CI [-22, -4.60], P=0.003) was observed. The daily GI symptoms that were significantly lower during LFOD were flatulence (P0.05). Conclusion: Preliminary findings suggest that short-term FODMAP reduction may be a beneficial intervention to minimize daily GI symptoms in runners with exercise-related GI distress. (C) 2017 American College of Sports Medicine

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