Τετάρτη 21 Μαρτίου 2018
Endoscopic Treatment of Duodenal Web in Association with Annular Pancreas in an Infant
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Prevalence of Suspected Nonalcoholic Fatty Liver Disease In Lean Adolescents In The United States
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Cold Shock as a Screen for Genes Involved in Cold Acclimatization in Neurospora crassa
When subjected to rapid drops of temperature (cold shock), Neurospora responds with a temporary shift in its morphology. This report is the first to examine this response genetically. We report here the results of a screen of selected mutants from the Neurospora knockout library for alterations in their morphological response to cold shock. Three groups of knockouts were selected to be subject to this screen: genes previously suspected to be involved in hyphal development as well as knockouts resulting in morphological changes; transcription factors; and genes homologous to E. coli genes known to alter their expression in response to cold shock. A total of 344 knockout strains were subjected to cold shock. Of those, 118 strains were identified with altered responses. We report here the cold shock morphologies and GO categorizations of strains subjected to this screen. Of strains with knockouts in genes associated with hyphal growth or morphology, 33 of 131 tested (25%) showed an altered response to cold shock. Of strains with knockouts in transcription factor genes, 30 of 145 (20%) showed an altered response to cold shock. Of strains with knockouts in genes homologous to E. coli genes which display altered levels of transcription in response to cold shock, a total of 55 of 68 tested (81%) showed an altered cold shock response. This suggests that the response to cold shock in these two organisms is largely shared in common.
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Site-Specific Fat-1 Knock-in Enables Significant Decrease of n-6PUFAs/n-3PUFAs Ratio in Pigs
The fat-1 gene from Caenorhabditis elegans encodes a fatty acid desaturase which was widely studied due to its beneficial function of converting n-6 polyunsaturated fatty acids (n-6PUFAs) to n-3 polyunsaturated fatty acids (n-3PUFAs). To date, many fat-1 transgenic animals have been generated to study disease pathogenesis or improve meat quality. However, all of them were generated using a random integration method with variable transgene expression levels and the introduction of selectable marker genes often raise biosafety concern. To this end, we aimed to generate marker-free fat-1 transgenic pigs in a site-specific manner. The Rosa26 locus, first found in mouse embryonic stem cells, has become one of the most common sites for inserting transgenes due to its safe and ubiquitous expression. In our study, the fat-1 gene was inserted into porcine Rosa 26 (pRosa26) locus via Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)/CRISPR-associated 9 (Cas9) system. The Southern blot analysis of our knock-in pigs indicated a single copy of the fat-1 gene at the pRosa26 locus. Furthermore, this single-copy fat-1 gene supported satisfactory expression in a variety of tissues in F1 generation pigs. Importantly, the gas chromatography analysis indicated that these fat-1 knock-in pigs exhibited a significant increase in the level of n-3PUFAs, leading to an obvious decrease in the n-6PUFAs/n-3PUFAs ratio from 9.36 to 2.12 (***P<0.0001). Altogether, our fat-1 knock-in pigs hold great promise for improving the nutritional value of pork and serving as an animal model to investigate therapeutic effects of n-3PUFAs on various diseases.
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Comparison of the Relative Potential for Epigenetic and Genetic Variation To Contribute to Trait Stability
The theoretical ability of epigenetic variation to influence the heritable variation of complex traits is gaining traction in the study of adaptation. This theory posits that epigenetic marks can control adaptive phenotypes but the relative potential of epigenetic variation in comparison to genetic variation in these traits is not presently understood. To compare the potential of epigenetic and genetic variation in adaptive traits, we analyzed the influence of DNA methylation variation on the accumulation of chemical defense compounds glucosinolates from the order Brassicales. Several decades of work on glucosinolates has generated extensive knowledge about their synthesis, regulation, genetic variation and contribution to fitness establishing this pathway as a model pathway for complex adaptive traits. Using high-throughput phenotyping with a randomized block design of ddm1 derived Arabidopsis thaliana epigenetic Recombinant Inbred Lines, we measured the correlation between DNA methylation variation and mean glucosinolate variation and within line stochastic variation. Using this information, we identified epigenetic Quantitative Trait Loci that contained specific Differentially Methylated Regions associated with glucosinolate traits. This showed that variation in DNA methylation correlates both with levels and variance of glucosinolates and flowering time with trait-specific loci. By conducting a meta-analysis comparing the results to different genetically variable populations, we conclude that the influence of DNA methylation variation on these adaptive traits is much lower than the corresponding impact of standing genetic variation. As such, selective pressure on these traits should mainly affect standing genetic variation to lead to adaptation.
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Inter-replicon Gene Flow Contributes to Transcriptional Integration in the Sinorhizobium meliloti Multipartite Genome
Integration of newly acquired genes into existing regulatory networks is necessary for successful horizontal gene transfer (HGT). Ten percent of bacterial species contain at least two DNA replicons over 300 kilobases in size, with the secondary replicons derived predominately through HGT. The Sinorhizobium meliloti genome is split between a 3.7 Mb chromosome, a 1.7 Mb chromid consisting largely of genes acquired through ancient HGT, and a 1.4 Mb megaplasmid consisting primarily of recently acquired genes. Here, RNA-sequencing is used to examine the transcriptional consequences of massive, synthetic genome reduction produced through the removal of the megaplasmid and/or the chromid. Removal of the megaplasmid influenced the transcription of only six genes. In contrast, removal of the chromid influenced expression of ~ 8% of chromosomal genes and ~ 4% of megaplasmid genes. This was mediated in part by the loss of the ETR DNA region whose presence on pSymB is due to a translocation from the chromosome. No obvious functional bias among the up-regulated genes was detected, although genes with putative homologs on the chromid were enriched. Down-regulated genes were enriched in motility and sensory transduction pathways. Four transcripts were examined further, and in each case the transcriptional change could be traced to loss of specific pSymB regions. In particularly, a chromosomal transporter was induced due to deletion of bdhA likely mediated through 3-hydroxybutyrate accumulation. These data provide new insights into the evolution of the multipartite bacterial genome, and more generally into the integration of horizontally acquired genes into the transcriptome.
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EMS on the Hill: The importance of political advocacy
By Allison G. S. Knox, EMT-B, faculty member at American Military University Emergency medical services are a critically important part of public safety, but its voice is not as loud as that of other healthcare entities, such as insurance providers, pharmaceutical companies and hospital networks. There needs to be considerably more support for EMS – both from those working in the profession as ...
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The genetics of fruit flavour preferences
The genetics of fruit flavour preferences
The genetics of fruit flavour preferences, Published online: 21 March 2018; doi:10.1038/s41576-018-0002-5
Fruit flavour is a complex phenotype that has been adversely affected by human intervention. Recent progress in defining the chemistry of consumer preferences and the availability of high-quality genome sequences are providing a foundation for defining the genetics underlying this trait and could be used for flavour improvement.from Genetics via xlomafota13 on Inoreader http://ift.tt/2DHcLY1
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Diagnostic efficacy and new variants in isolated and complex autism spectrum disorder using molecular karyotyping
Abstract
Autism spectrum disorder (ASD) is a group of the neurodevelopment disorders presenting as an isolated ASD or more complex forms, where a broader clinical phenotype comprised of developmental delay and intellectual disability is present. Both the isolated and complex forms have a significant causal genetic component and submicroscopic genomic copy number variations (CNV) are the most common identifiable genetic factor in these patients. The data on microarray testing in ASD cohorts are still accumulating and novel loci are often identified; therefore, we aimed to evaluate the diagnostic efficacy of the method and the relevance of implementing it into routine genetic testing in ASD patients. A genome-wide CNV analysis using the Agilent microarrays was performed in a group of 150 individuals with an isolated or complex ASD. Altogether, 11 (7.3%) pathogenic CNVs and 15 (10.0%) variants of unknown significance (VOUS) were identified, with the highest proportion of pathogenic CNVs in the subgroup of the complex ASD patients (14.3%). An interesting case of previously unreported partial UPF3B gene deletion was identified among the pathogenic CNVs. Among the CNVs with unknown significance, four VOUS involved genes with possible correlation to ASD, namely genes SNTG2, PARK2, CADPS2 and NLGN4X. The diagnostic efficacy of aCGH in our cohort was comparable with those of the previously reported and identified an important proportion of genetic ASD cases. Despite the continuum of published studies on the CNV testing in ASD cohorts, a considerable number of VOUS CNVs is still being identified, namely 10.0% in our study.
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ER program aims to catch patients bouncing from one to another
Dr. Scott Weiner's PreManage ED project aims to coordinate better care for "high risk and complex patients" who regularly visit several ERs
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The trials of trials: RCTs to assess causal questions about social interventions
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European Public Health News
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Good-quality support for the homeless is good for everyone
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Functional Anaerobic and Strength Training in Young Adults with Cerebral Palsy
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Multiple Inhibitory Mechanisms of Lidocaine on Bradykinin Receptor Activity in Model Sensory Neurons
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Anatomical Study of the Innervation of Anterior Knee Joint Capsule: Implication for Image-Guided Intervention
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Interfascial Plane Blocks: Back to Basics
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Impact of continuous regional arterial infusion in the treatment of acute necrotizing pancreatitis: analysis of a national administrative database
Abstract
Background
Although continuous regional arterial infusion (CRAI) of protease inhibitors and broad antibiotics has been suggested as one of the therapeutic option for patients with acute necrotic pancreatitis (ANP), the effectiveness has not been well-corroborated in clinical studies.
Methods
We conducted a retrospective cohort study using a Japanese national administrative database. Severe acute pancreatitis patients with a poorly enhanced pancreas region (i.e., definitive or clinically suspected ANP) were identified and dichotomized according to whether CRAI was performed. We compared the outcomes of in-hospital mortality, surgical interventions, hospital-free days, and healthcare costs between groups adjusted by the well-validated case-mix adjustment model using a multivariate mixed-effect regression analysis and a propensity score matching analysis.
Results
Of 243,312 acute pancreatitis patients, 702 eligible patients were identified, of these 339 patients underwent CRAI. The case-mix adjustment model established had good predictability for in-hospital mortality with an area under the receiver operating characteristics curve of 0.87. CRAI was significantly associated with reduced in-hospital mortality [14.5% in the CRAI group vs. 18.2% in the non-CRAI group, adjusted odds ratio (95% confidence interval; CI) = 0.60 (0.36–0.97)]. Significant associations were not observed for the frequency of surgical interventions and mean hospital-free days; however, significantly higher healthcare costs were observed in the CRAI group. Results of the propensity score matching analysis did not alter these results.
Conclusions
Analysis of a nationwide large-scale database suggested that CRAI was significantly associated with reduced in-hospital mortality for patients with ANP. Further randomized controlled trials are warranted.
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Wellness interventions for anesthesiologists
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Protective ventilation during anaesthesia reduces major postoperative complications after lung cancer surgery: A double-blind randomised controlled trial
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Independent contributions of theta and delta time-frequency activity to visual oddball P300
Publication date: Available online 21 March 2018
Source:International Journal of Psychophysiology
Author(s): Matthew D. Bachman, Edward M. Bernat
A growing body of work suggests that the P300 (P3) event-related potential (ERP) component is better understood as a mixture of task-relevant processes (Polich, 2007). This converges with earlier time-frequency work suggesting that the P3b is primarily composed of centroparietal delta (0.5–3 Hz) and frontocentral theta (3–7 Hz) activity. Within this study (N = 229), we hope to re-affirm these prior ideas and expand upon them in several crucial ways, reassessing how delta and theta contribute to the visual oddball P3b through the lens of several recent decades of additional P3b research. We provide a comprehensive assessment of how theta and delta time-frequency activity contribute to several common variants of the time-domain P3b, specifically measuring the target and non-target P3b, as well as differences between targets and non-targets, target-to-target interval (TTI), and target habituation. Results replicate and extend earlier work indicating that delta and theta account for a majority of variance in both the target and non-target P3 as well as their respective amplitude differences. They also newly indicate that theta and delta activity can have unique contributions to TTI differences and target habituation effects. Results in target habituation particularly demonstrate how time-frequency analyses can disentangle nuanced changes in P3b activity, shedding new light on these complicated phenomena. Findings suggest that delta and theta measures index separable processes occurring during the P3, and provide additional support for the idea that they index theoretical frontocentral and centroparietal P3 subcomponents.
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Reduced pupil dilation during action preparation in schizophrenia
Publication date: Available online 21 March 2018
Source:International Journal of Psychophysiology
Author(s): Katharine N. Thakkar, Jan W. Brascamp, Livon Ghermezi, Kassidy Fifer, Jeffrey D. Schall, Sohee Park
Impairments in cognitive control—the ability to exert control over thoughts and actions and respond flexibly to the environment—are well-documented in schizophrenia. However, the degree to which experimental task performance reflects true cognitive control impairments or more general alterations in effort, arousal and/or task preparedness is unclear. Pupillary responses can provide insight into these latter factors, as the pupil dilates with degree of cognitive effort and response preparation. In the current study, 16 medicated outpatients with schizophrenia (SZP) and 18 healthy controls performed a task that measures the ability to reactively inhibit and modify a planned action—the double-step task. In this task, participants were required to make a saccade to a visual target. Infrequently, the target jumped to a new location and participants were instructed to rapidly inhibit and change their eye movement plan. Applying a race model of performance, we have previously shown that SZP require more time to inhibit a planned action. In the current analysis, we measured pupil dilation associated with task preparation and found that SZP had a shallower increase in pupil size prior to the onset of the trial. Additionally, reduced magnitude of the pupil response was associated with negative symptom severity in patients. Based on primate neurophysiology and cognitive neuroscience work, we suggest that this blunted pupillary response may reflect abnormalities in a general orienting response or reduced motivational significance of a cue signifying the onset of a preparatory period and that these abnormalities might share an autonomic basis with negative symptoms.
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Long-term cognitive outcomes in male and female athletes following sport-related concussions
Publication date: Available online 20 March 2018
Source:International Journal of Psychophysiology
Author(s): Veronik Sicard, Robert Davis Moore, Dave Ellemberg
Despite concussion being a serious public health concern and the increasing participation of female athletes in sport, the comparative long-term outcomes of male and female athletes are poorly understood, potentially limiting the scientific understanding and clinical management of these injuries. We examined whether sex influences the long-term cognitive outcomes in athletes with a history of concussion (HOC; 6+ months from injury). Accordingly, 196 asymptomatic student-athletes participated in the study (98 with a HOC; 98 matched controls). The sample included both male (n = 98) and female athletes (n = 98). Participants completed the Cogstate brief battery, to which we added a 2-Back condition to increase cognitive load. As predicted, the results revealed sex differences on the N-back Task, a measure of executive functions, with female athletes having a HOC responding significantly more slowly than their male counterparts on the 2-Back condition (p = 0.02). Moreover, irrespective of sex, athletes with a HOC were slower and less accurate relative to controls on the N-back Task (p = 0.01). Analyses failed to reveal any significant sex or group difference on tasks that measure lower-level cognition (ps > 0.05). The current results reaffirm the presence of subtle, yet long-term alterations in aspects of executive functions following a sport-related concussion. More importantly, our results highlight that female athletes exhibit alterations of greater magnitude than their male counterparts. Therefore, the sex difference observed in the days or weeks following a concussion may persist well into the chronic phase of injury.
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The Power of Doppler in the Popliteal Fossa: Sonographic Diagnosis of a Fibular Nerve Neurofibroma in a Patient with Posterior Knee Swelling
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Efficacy of Extracorporeal Shock Wave Therapy for Lower Extremity Tendinopathy: A Meta-analysis of Randomised Controlled Trials
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Should we be concerned about “acute sarcopenia” in the inpatient population? Is there a role for ultrasound evaluation?
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Clinical Supervision of Mental Health Professionals Serving Youth: Format and Microskills
Abstract
Clinical supervision is an element of quality assurance in routine mental health care settings serving children; however, there is limited scientific evaluation of its components. This study examines the format and microskills of routine supervision. Supervisors (n = 13) and supervisees (n = 20) reported on 100 supervision sessions, and trained coders completed observational coding on a subset of recorded sessions (n = 57). Results indicate that microskills shown to enhance supervisee competency in effectiveness trials and experiments were largely absent from routine supervision, highlighting potential missed opportunities to impart knowledge to therapists. Findings suggest areas for quality improvement within routine care settings.
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Retrograde intubation through nasal route in patients with limited mouth opening undergoing oral and maxillofacial surgery.
Retrograde intubation through nasal route in patients with limited mouth opening undergoing oral and maxillofacial surgery.
J Oral Biol Craniofac Res. 2018 Jan-Apr;8(1):30-34
Authors: Vadepally AK, Sinha R, Kumar AVSSS
Abstract
Background: Patients with limited mouth opening (LMO) often associated with difficult intubation. Retrograde intubation is an alternative technique of establishing definitive airway in these patients when blind nasal intubation fails and fiberoptic bronchoscope is not available. We tested the retrograde intubation through nasal route in patients with LMO less than 2 cm.
Materials and methods: The procedure was performed with some modification with regard to retrograde guide on 18 patients requiring maxillofacial surgical procedures to increase mouth opening. Indications for this technique were mandibular fracture (n = 6), oral submucous fibrosis (OSMF; n = 6), temporomandibular joint (TMJ) ankylosis (n = 4) and internal derangement of TMJ (n = 2). All patients were assessed for preoperative interincisal opening; during intubation through specific parameters and; also postoperative findings were observed.
Results: Mean time taken for successful intubation was 5.6 min ± 1.66. One patient had subcutaneous emphysema which was managed conservatively. Postoperatively, four patients had sore throat which resolved in few days. No other complications were encountered.
Conclusion: In conclusion, retrograde nasotracheal intubation is an effective and useful technique for airway control in patients with LMO and with only a small risk potential.
PMID: 29556460 [PubMed]
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Positive interictal epileptiform discharges in adults: A case series of a rare phenomenon
Source:Clinical Neurophysiology, Volume 129, Issue 5
Author(s): Ana Catarina Franco, Olympia Kremmyda, Jan Rémi, Soheyl Noachtar
ObjectivePositive interictal epileptiform discharges (IEDs) are rarely recorded from surface EEG, due to the orientation of the cortex and its neurons. Their frequency and significance in adults is unknown, and has only been studied as a phenomenon of the neonatal period and childhood. We aimed to evaluate the frequency and characteristics of positive epileptiform discharges in a large cohort of patients.MethodsWe retrospectively reviewed 24,178 reports from 18,060 patients of non-invasively recorded EEGs for various indications.ResultsPositive IEDs were recorded in six patients (eight EEGs – 0.033%), all of which had epileptic seizures. Brain surgery was the most common reason for recording positive and not negative IEDs. Cortical malformation was the most probable etiology in the remaining patients.ConclusionsPositive IEDs seem to be of lower frequency in adults than in children and are highly associated with epilepsy. They appear more often, but not exclusively, in adult patients with skull defects.SignificanceThis is the first adult series reported. Positive IEDs must be identified for the correct diagnosis and clearly differentiated from normal variants.
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Omental abscess due to a spilled gallstone after laparoscopic cholecystectomy
Abstract
Omental abscess due to a spilled gallstone is extremely rare after laparoscopic cholecystectomy. Herein, we report a 68-year-old man who presented with left upper abdominal pain after laparoscopic cholecystectomy for gangrenous cholecystitis. Seven months prior to admission, gallbladder perforation with spillage of pigment gallstones and bile occurred during laparoscopic cholecystectomy. The spilled gallstones were retrieved through vigorous peritoneal lavage. Abdominal computed tomography showed a 3 × 2.5 cm intra-abdominal heterogeneous mass, suspected to be an omental abscess, and ascites around the spleen. Exploratory laparoscopy revealed an inflammatory mass within the greater omentum. Laparoscopic partial omentectomy and abscess drainage were performed, and a small black pigment gallstone was unexpectedly found in the whitish abscess fluid. Abscess fluid culture results were positive for extended-spectrum β-lactamase-producing Escherichia coli and Streptococcus salivarius, which were previously detected in the gangrenous gallbladder abscess. The histopathological diagnosis was abscess in the greater omentum. Postoperative course was uneventful, and the patient was discharged 13 days later. In conclusion, we report a successful case of laparoscopic management of an omental abscess due to a spilled gallstone after LC. It is important to attempt to retrieve spilled gallstones during LC because they may occasionally result in serious complications.
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