Sudden cardiac arrest continues to be the leading cause of death in young athletes despite preparticipation sports screening (PPS). The devastating loss of children to sudden cardiac arrest has led communities to demand more comprehensive heart screenings. The purpose of this study was to evaluate a community youth heart screening program in Minnesota.
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Δευτέρα 22 Οκτωβρίου 2018
Integration of 12-Lead Electrocardiograms Into Preparticipation Screenings to Prevent Sudden Cardiac Death in High School Athletes
Genetic Variants in the Wingless Antagonist Genes (sFRP, DKK, and Axin2) Predict the Overall Survival and Prognosis of North Indian Lung Cancer Patients Treated with Platinum-Based Doublet Chemotherapy
Cancer Biotherapy and Radiopharmaceuticals, Ahead of Print.
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Genetic Variants in the Wingless Antagonist Genes (sFRP, DKK, and Axin2) Predict the Overall Survival and Prognosis of North Indian Lung Cancer Patients Treated with Platinum-Based Doublet Chemotherapy
Cancer Biotherapy and Radiopharmaceuticals, Ahead of Print.
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Top 10 not-so-altruistic ways to improve EMS with a billion dollars
The Ambulance Driver imagines a glorious future, funded by his Mega Millions winnings, as our EMS dear and fearless leader
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Constitutive androstane receptor and pregnane X receptor cooperatively ameliorate DSS-induced colitis
Nuclear receptor pregnane X receptor (PXR) was shown to be protective in case of dextran sulfate sodium (DSS)-induced colitis. Constitutive androstane receptor (CAR) belongs to the same nuclear receptor subfamily with PXR. The roles of both receptors in DSS-induced colitis were evaluated.
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IBS clinical management in Italy: the AIGO survey
Irritable bowel syndrome (IBS) is the most frequent functional gastrointestinal disorder, both in primary and secondary care.
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A Prospective Randomized Study to Analyze the Efficacy of Balanced Preemptive Analgesia in Spine Surgery
Surgical procedures involving the spine are known to cause moderate to severe postoperative pain. Inadequate management of acute pain in the postoperative period results in higher morbidity, and consequently may lead to chronic pain due to central sensitization. The role of preemptive and intraoperative analgesia in management of postoperative pain has gained precedence over recent years. Pathophysiology of postoperative pain in spine surgery is unique, as it is a combination of nociceptive, inflammatory and neuronal stimuli.
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Integrating intraoperative physiology data into outcomes analysis for the ACS Pediatric National Surgical Quality Improvement Program
Pediatric Anesthesia, Volume 0, Issue ja, -Not available-.
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Lumbosacral and thoracolumbosacral cerebrospinal fluid volume changes in neonates, infants, children, and adolescents: a retrospective magnetic resonance imaging study
Pediatric Anesthesia, Volume 0, Issue ja, -Not available-.
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Constitutive androstane receptor and pregnane X receptor cooperatively ameliorate DSS-induced colitis
Nuclear receptor pregnane X receptor (PXR) was shown to be protective in case of dextran sulfate sodium (DSS)-induced colitis. Constitutive androstane receptor (CAR) belongs to the same nuclear receptor subfamily with PXR. The roles of both receptors in DSS-induced colitis were evaluated.
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IBS clinical management in Italy: the AIGO survey
Irritable bowel syndrome (IBS) is the most frequent functional gastrointestinal disorder, both in primary and secondary care.
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First Responder Solutions to Showcase Medical Care Products at EMS World Expo
Visit EMS World Expo Booth 355 to see the all-new Trauma Beanie™ CARMEL, Oct. 19, 2018 – First Responder Solutions™, Inc. will attend the EMS World Expo in Nashville, Tennessee at the Music City Center from October 29th through November 2nd to showcase their specialty, and everyday use medical care products to the EMS first responder community. Their pioneering products, the...
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7 keys to proper care and cleaning of your ballistic vest
Follow these do's and don'ts to prolong the life of this lifesaving investment
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UK Biobank — a new era in genomic medicine
UK Biobank — a new era in genomic medicine
UK Biobank — a new era in genomic medicine, Published online: 22 October 2018; doi:10.1038/s41576-018-0065-3
Two studies in Nature describe the full data set of the UK Biobank resource, which contains genome-wide genetic data, clinical measurements and health records for ~500,000 individuals, and reveal insights into the brain's genetic architecture.from Genetics via xlomafota13 on Inoreader https://ift.tt/2CwlL5n
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Going to the negative: genomics for optimized medical prescription
Going to the negative: genomics for optimized medical prescription
Going to the negative: genomics for optimized medical prescription, Published online: 22 October 2018; doi:10.1038/s41576-018-0061-7
In personalized medicine, a major aim is to provide the right treatment to the right patient. In this Comment article, Gibson discusses how a more overt and genomics-informed focus on those individuals who are unlikely to benefit from treatment could reduce prescription rates and provide financial and health-care benefits.from Genetics via xlomafota13 on Inoreader https://ift.tt/2OJ2oO5
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When Environment Meets Genetics: A Clinical Review On The Epigenetics Of Pain, Psychological Factors, And Physical Activity
Publication date: Available online 22 October 2018
Source: Archives of Physical Medicine and Rehabilitation
Author(s): Andrea Polli, Kelly Ickmans, Lode Godderis, Jo Nijs
Abstract
Epigenetic mechanisms represent a link between the environment and gene function. Recent evidence shows how early-life stress, inflammation, and physical activity can influence gene expression through epigenetic mechanisms. Epigenetic changes – such as DNA methylation and microRNA interference – can be measured in humans and might soon become important biological markers. Epigenetic marks can accompany clinical assessment to measure the effectiveness of various interventions, such as exercise therapy.
In addition, epigenetics is improving the understanding of important underlying mechanisms related to the central nervous system, the opioidergic system, and stress responses. Epigenetics is covering a gap in our explanatory abilities and should be implemented to broaden the field of rehabilitation sciences, promote a mechanism-based clinical reasoning, and develop new treatments.
In the present review, we focused on epigenetic mechanisms related to pain, psychological factors such as fear and anxiety, and physical activity, translating relevant findings from these three different – yet related – areas of cardinal importance for clinicians.
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Editorial Board
Publication date: November 2018
Source: Clinical Neurophysiology, Volume 129, Issue 11
Author(s):
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A risk score to predict the development of hepatic encephalopathy in a population-based cohort of patients with cirrhosis
Hepatology
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Effect of alcohol consumption on survival in nonalcoholic fatty liver disease: A national prospective cohort study
Hepatology
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'Infliximab-first' vs 'colectomy-first' management in acute severe ulcerative colitis: Comparison of long-term outcomes, inpatient costs, and complication
Journal of the American College of Surgeons
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Helicobacter pylori and the risk of dementia: A population-based study
Alzheimer's & Dementia
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Hepatocellular carcinoma is associated with gut microbiota profile and inflammation in nonalcoholic fatty liver disease
Hepatology
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Stimulus, response and feedback processing in burnout – An EEG study
Publication date: Available online 22 October 2018
Source: International Journal of Psychophysiology
Author(s): Krystyna Golonka, Justyna Mojsa-Kaja, Tadeusz Marek, Magda Gawlowska
Abstract
Professional burnout is a syndrome that is characterized by psychophysical or emotional exhaustion, depersonalization and diminished professional efficacy. Research on burnout often indicates deficits in cognitive functioning, such as memory problems or impaired voluntary control over attention. Many studies focus on behavioral and self-reported measures of burnout consequences; however, a limited number have focused on its consequences on a neural level.
In our EEG study (N = 88; 42 with burnout), we analyzed the event-related potentials (ERP) associated with stimulus, response and feedback processing using two experimental procedures - the Go/NoGo Task and the Doors Task. Our results show that while there is no difference in performance between burnout and control group, on the neural level there are significant differences in all analyzed aspects of information processing: stimulus, response and feedback processing, indicated by the N200 and P300, Pe, and P200 event-related potentials, respectively.
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Specificity of MLL1 and TET3 CXXC domains towards naturally occurring cytosine modifications
Publication date: Available online 22 October 2018
Source: Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms
Author(s): Anna Stroynowska-Czerwińska, Anna Piasecka, Matthias Bochtler
Abstract
CXXC domains have traditionally been considered as CpG specific DNA binding domains that are repelled by cytosine modifications. This view has recently been challenged by the demonstration that CXXC domain of TET3 has relaxed sequence specificity and binds with the highest affinity to symmetric DNA duplex containing 5caCpG. Here, we present a comparative analysis of the MLL1-CXXC and TET3-CXXC sequence specificity and tolerance to cytosine modifications (5-methyl, 5-hydroxymethyl, 5-formyl, 5-carboxyl) in CpG and non-CpG context. For the first time, we take into consideration possible interference from cytosine bases elsewhere in the sequence. We show that despite similar overall structure, MLL1-CXXC has greater sequence and modification specificity than TET3-CXXC. MLL1-CXXC is specific only for CpG and does not tolerate any cytosine modifications. In contrast, TET3-CXXC does not require the CpG context of cytosine bases. Methyl-, formyl- and carboxyl-modifications are tolerated, but only preceding G. Based on our and other data we propose a parsimonious model of MLL1-CXXC and TET3-CXXC DNA binding. This model explains why the binding of modified DNA duplexes by TET3-CXXC requires in some cases a register shift and is therefore context-dependent.
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The present and future of whole-exome sequencing in studying and treating human reproductive disorders
Publication date: Available online 22 October 2018
Source: Journal of Genetics and Genomics
Author(s): Wei Guo, Xiaohui Zhu, Liying Yan, Jie Qiao
Abstract
The causes of recurrent spontaneous abortion (RSA) and fetal malformations are multifactorial and unclear in most cases. Environmental, maternal, and genetic factors have been shown to contribute to these defects. Whole exome sequencing (WES) is widely used to detect genetic variations associated with human diseases and has recently been successfully applied to unveil genetic causes of unexplained recurrent spontaneous abortion (URSA) and fetal malformations. Here, we review the current discovery and diagnosis strategies to identify the underlying pathogenic mutations of URSA and fetal malformations using WES technology and propose to further develop WES, both to advance our understanding of these diseases and to eventually lead to targeted therapies for reproductive disorders.
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Developmental delay and failure to thrive associated with a loss‐of‐function variant in WHSC1 (NSD2)
American Journal of Medical Genetics Part A, EarlyView.
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Olfactory function in patients with nonsyndromic orofacial clefts and their unaffected relatives
American Journal of Medical Genetics Part A, EarlyView.
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Metabolic responses to walking in children with Prader‐Willi syndrome on growth hormone replacement therapy
American Journal of Medical Genetics Part A, EarlyView.
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Magnetoreception: activation of avian cryptochrome 1a in various light conditions
Abstract
The avian magnetic inclination compass is based on radical pair processes, with cryptochrome (Cry) assumed to form the crucial radical pairs; it requires short-wavelength light from UV to green. Under high-intensity narrow-band lights and when yellow light is added, the magnetic compass is disrupted: migratory birds no longer prefer their migratory direction, but show other orientation responses. The candidate receptor molecule Cry1a is located in the shortwavelength-sensitive SWS1 cone photoreceptors in the retina. The present analysis of avian retinae after the respective illuminations showed that no activated Cry1a was present under 565 nm green light of medium and high intensity, and hardly any under high intensity 502 nm turquoise, whereas we found activated Cry1a at all three tested intensities of 373 nm UV and 424 nm blue light. Activated Cry1a also was found when 590 nm yellow light was added to low-intensity light of the four colors; yet these light combinations result in impaired magnetic orientation. This indicates that the disruption of the magnetic compass does not occur at the receptor level in the retina, but at higher processing stages, where the unnatural, almost monochromatic or bichromatic illumination causes yet unknown responses that interfere with the inclination compass.
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The impact of GJA8 SNPs on susceptibility to age-related cataract
Abstract
The gap junction protein alpha 8 (GJA8) gene has been widely studied in human congenital cataracts. However, little is known about its relationship with age-related cataract (ARC). In this study, three GJA8-tagged single nucleotide polymorphisms related to an increased ARC risk were identified: rs2132397 for general ARC under both dominant and additive models; rs7541950 for general ARC under both recessive and additive models; and rs6657114 for cortical cataract under the recessive model. To uncover the underlying mechanisms, this study also sought to explore whether GJA8 is involved in the autophagy process in human lens epithelial cells. The results showed that GJA8 may participate in autophagy to maintain the intracellular environment, which may be a novel mechanism for cataract formation induced by GJA8. In conclusion, this study identified the genetic susceptibility of GJA8 polymorphisms on ARC and provides new clues for fully understanding the pathological mechanism of GJA8 variants in affecting lens opacity.
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