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https://www.readbyqxmd.com/read/28290797/-the-brugada-syndrome-in-a-teenager
#1
I M Miklashevich, E V Kuleshova, S A Termosesov, M A Shkolnikova
The Brugada syndrome (BS) belongs to the group of hereditary channelopathies associated with elevated risk of sudden death (SD) in the absence of structural heart diseases. The disorder phenotypically manifests by specific electrocardiographic pattern, associated with ventricular tachycardia (VT). VT can be accompanied by loss of conscience, and after transformation to ventricular fibrillation result in SD. BS is extremely rare among children and adolescents. We present here a clinical case of teenager (age 17 years) with BS manifested by syncopal state at the background of fever...
February 2017: Kardiologiia
https://www.readbyqxmd.com/read/28277038/has-growth-mixture-modeling-improved-our-understanding-of-how-early-change-predicts-psychotherapy-outcome
#2
Andrew Koffmann
OBJECTIVE: Early change in psychotherapy predicts outcome. Seven studies have used growth mixture modeling [GMM; Muthén, B. (2001). Second-generation structural equation modeling with a combination of categorical and continuous latent variables: New opportunities for latent class-latent growth modeling. In L. M. Collins & A. G. Sawyers (Eds.), New methods for the analysis of change (pp. 291-322). Washington, DC: American Psychological Association] to identify patient classes based on early change but have yielded conflicting results...
March 2, 2017: Psychotherapy Research: Journal of the Society for Psychotherapy Research
https://www.readbyqxmd.com/read/28272467/meta-analysis-identifies-novel-risk-loci-and-yields-systematic-insights-into-the-biology-of-male-pattern-baldness
#3
Stefanie Heilmann-Heimbach, Christine Herold, Lara M Hochfeld, Axel M Hillmer, Dale R Nyholt, Julian Hecker, Asif Javed, Elaine G Y Chew, Sonali Pechlivanis, Dmitriy Drichel, Xiu Ting Heng, Ricardo C-H Del Rosario, Heide L Fier, Ralf Paus, Rico Rueedi, Tessel E Galesloot, Susanne Moebus, Thomas Anhalt, Shyam Prabhakar, Rui Li, Stavroula Kanoni, George Papanikolaou, Zoltán Kutalik, Panos Deloukas, Michael P Philpott, Gérard Waeber, Tim D Spector, Peter Vollenweider, Lambertus A L M Kiemeney, George Dedoussis, J Brent Richards, Michael Nothnagel, Nicholas G Martin, Tim Becker, David A Hinds, Markus M Nöthen
Male-pattern baldness (MPB) is a common and highly heritable trait characterized by androgen-dependent, progressive hair loss from the scalp. Here, we carry out the largest GWAS meta-analysis of MPB to date, comprising 10,846 early-onset cases and 11,672 controls from eight independent cohorts. We identify 63 MPB-associated loci (P<5 × 10(-8), METAL) of which 23 have not been reported previously. The 63 loci explain ∼39% of the phenotypic variance in MPB and highlight several plausible candidate genes (FGF5, IRF4, DKK2) and pathways (melatonin signalling, adipogenesis) that are likely to be implicated in the key-pathophysiological features of MPB and may represent promising targets for the development of novel therapeutic options...
March 8, 2017: Nature Communications
https://www.readbyqxmd.com/read/28097232/vps34-regulates-myofibril-proteostasis-to-prevent-hypertrophic-cardiomyopathy
#4
Hirotaka Kimura, Satoshi Eguchi, Junko Sasaki, Keiji Kuba, Hiroki Nakanishi, Shunsuke Takasuga, Masakazu Yamazaki, Akiteru Goto, Hiroyuki Watanabe, Hiroshi Itoh, Yumiko Imai, Akira Suzuki, Noboru Mizushima, Takehiko Sasaki
Hypertrophic cardiomyopathy (HCM) is a common heart disease with a prevalence of 1 in 500 in the general population. Several mutations in genes encoding cardiac proteins have been found in HCM patients, but these changes do not predict occurrence or prognosis and the molecular mechanisms underlying HCM remain largely elusive. Here we show that cardiac expression of vacuolar protein sorting 34 (Vps34) is reduced in a subset of HCM patients. In a mouse model, muscle-specific loss of Vps34 led to HCM-like manifestations and sudden death...
January 12, 2017: JCI Insight
https://www.readbyqxmd.com/read/28051127/population-cycles-and-species-diversity-in-dynamic-kill-the-winner-model-of-microbial-ecosystems
#5
Sergei Maslov, Kim Sneppen
Determinants of species diversity in microbial ecosystems remain poorly understood. Bacteriophages are believed to increase the diversity by the virtue of Kill-the-Winner infection bias preventing the fastest growing organism from taking over the community. Phage-bacterial ecosystems are traditionally described in terms of the static equilibrium state of Lotka-Volterra equations in which bacterial growth is exactly balanced by losses due to phage predation. Here we consider a more dynamic scenario in which phage infections give rise to abrupt and severe collapses of bacterial populations whenever they become sufficiently large...
January 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28024876/neuronal-ceroid-lipofuscinosis-ncl-is-caused-by-the-entire-deletion-of-cln8-in-the-alpenl%C3%A3-ndische-dachsbracke-dog
#6
M Hirz, M Drögemüller, A Schänzer, V Jagannathan, E Dietschi, H H Goebel, W Hecht, S Laubner, M J Schmidt, F Steffen, M Hilbe, K Köhler, C Drögemüller, C Herden
Neuronal ceroid lipofuscinoses (NCLs) are inherited lysosomal storage diseases that have been described in a variety of dog breeds, where they are caused by different mutations in different genes. However, the causative gene defect in the breed Alpenländische Dachsbracke remained unknown so far. Here we present two confirmed cases of NCL in Alpenländische Dachsbracke dogs from different litters of the same sire with a different dam harboring the same underlying novel mutation in the CLN8 gene. Case 1, a 2-year-old male Alpenländische Dachsbracke was presented with neurological signs including disorientation, character changes including anxiety states and aggressiveness, sudden blindness and reduction of food intake...
March 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27976566/ceftriaxone-induced-hemolytic-anemia-in-a-child-successfully-managed-with-intravenous-immunoglobulin
#7
Aysel Vehapoğlu, Nilüfer Göknar, Rümeysa Tuna, Fatma Betül Çakır
Drug-induced hemolytic anemia is an immune-mediated phenomenon that leads to the destruction of red blood cells. Here, we present a case of life-threatening ceftriaxone-induced hemolytic anemia (CIHA) in a previously healthy 3-year-old girl. We also reviewed the literature to summarize the clinical features and treatment of hemolytic anemia. Acute hemolysis is a rare side effect of ceftriaxone therapy associated with high mortality. Our patient had a sudden loss of consciousness with macroscopic hematuria and her hemoglobin dropped from 10...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27911776/evaluating-early-warning-indicators-of-critical-transitions-in-natural-aquatic-ecosystems
#8
Alena Sonia Gsell, Ulrike Scharfenberger, Deniz Özkundakci, Annika Walters, Lars-Anders Hansson, Annette B G Janssen, Peeter Nõges, Philip C Reid, Daniel E Schindler, Ellen Van Donk, Vasilis Dakos, Rita Adrian
Ecosystems can show sudden and persistent changes in state despite only incremental changes in drivers. Such critical transitions are difficult to predict, because the state of the system often shows little change before the transition. Early-warning indicators (EWIs) are hypothesized to signal the loss of system resilience and have been shown to precede critical transitions in theoretical models, paleo-climate time series, and in laboratory as well as whole lake experiments. The generalizability of EWIs for detecting critical transitions in empirical time series of natural aquatic ecosystems remains largely untested, however...
December 13, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27867161/departure-from-optimal-o2-level-for-mouse-trophoblast-stem-cell-proliferation-and-potency-leads-to-most-rapid-ampk-activation
#9
Yu Yang, Zhongliang Jiang, Alan Bolnick, Jing Dai, Elizabeth E Puscheck, Daniel A Rappolee
Previous studies showed that cultured mouse trophoblast stem cells (mTSCs) have the most rapid proliferation, normal maintenance of stemness/potency, the least spontaneous differentiation, and the lowest level of stress-activated protein kinase (SAPK) when incubated at 2% O2 rather than at the traditional 20% O2 or hypoxic (0.5% and 0% O2) conditions. Switching from 2% O2 induced fast SAPK responses. Here we tested the dose response of AMP-activated protein kinase (AMPK) in its active form (pAMPK Thr172P) at O2 levels from 20-0%, and also tested whether pAMPK levels show similar rapid changes when mTSC cultures were switched from the optimal 2% O2 to other O2 conditions...
February 16, 2017: Journal of Reproduction and Development
https://www.readbyqxmd.com/read/27842665/revisiting-the-relationship-of-three-dimensional-fluid-attenuation-inversion-recovery-imaging-and-hearing-outcomes-in-adults-with-idiopathic-unilateral-sudden-sensorineural-hearing-loss
#10
COMPARATIVE STUDY
Wen-Huei Liao, Hsiu-Mei Wu, Hung-Yi Wu, Tzong-Yang Tu, An-Suey Shiao, Mauricio Castillo, Sheng-Che Hung
BACKGROUND AND PURPOSE: Three-dimensional fluid attenuation inversion recovery (3D FLAIR) may demonstrate high signal in the inner ears of patients with idiopathic sudden sensorineural hearing loss (ISSNHL), but the correlations of this finding with outcomes are still controversial. Here we compared 4 3D MRI sequences with the outcomes of patients with ISSNHL. MATERIALS AND METHODS: 77 adult patients with ISSNHL underwent MRI with pre contrast FLAIR, fast imaging employing steady-state acquisition images (FIESTA-C), post contrast T1WI and post contrast FLAIR...
December 2016: European Journal of Radiology
https://www.readbyqxmd.com/read/27784896/cryptic-exon-activation-in-slc12a3-in-gitelman-syndrome
#11
Kandai Nozu, Yoshimi Nozu, Keita Nakanishi, Takao Konomoto, Tomoko Horinouchi, Akemi Shono, Naoya Morisada, Shogo Minamikawa, Tomohiko Yamamura, Junya Fujimura, Koichi Nakanishi, Takeshi Ninchoji, Hiroshi Kaito, Ichiro Morioka, Mariko Taniguchi-Ikeda, Igor Vorechovsky, Kazumoto Iijima
Gitelman syndrome (GS) is an autosomal recessive renal tubulopathy characterized by hypokalemic metabolic alkalosis with hypocalciuria and hypomagnesemia. GS clinical symptoms range from mild weakness to muscular cramps, paralysis or even sudden death as a result of cardiac arrhythmia. GS is caused by loss-of-function mutations in the solute carrier family 12 member 3 (SLC12A3) gene, but molecular mechanisms underlying such a wide range of symptoms are poorly understood. Here we report cryptic exon activation in SLC12A3 intron 12 in a clinically asymptomatic GS, resulting from an intronic mutation c...
October 27, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27756227/shedding-light-on-the-expansion-and-diversification-of-the-cdc48-protein-family-during-the-rise-of-the-eukaryotic-cell
#12
Nickias Kienle, Tobias H Kloepper, Dirk Fasshauer
BACKGROUND: A defining feature of eukaryotic cells is the presence of various distinct membrane-bound compartments with different metabolic roles. Material exchange between most compartments occurs via a sophisticated vesicle trafficking system. This intricate cellular architecture of eukaryotes appears to have emerged suddenly, about 2 billion years ago, from much less complex ancestors. How the eukaryotic cell acquired its internal complexity is poorly understood, partly because no prokaryotic precursors have been found for many key factors involved in compartmentalization...
October 18, 2016: BMC Evolutionary Biology
https://www.readbyqxmd.com/read/27703573/enduring-personality-changes-after-intense-stressful-event-case-report
#13
Slavica Arsova, Nensi Manusheva, Gabriela Kopacheva-Barsova, Stojan Bajraktarov
BACKGROUND: World statistical data show that a large number of individuals suffer from posttraumatic stress disorder (PTSD) after exposure to the intense traumatic event. PTSD can have a chronic course with enduring changes in the functioning of the person. CASE PRESENTATION: Here we report two adult individuals of different gender and education who were exposed to the extremely severe stressful event after which difficulties in psychological functioning developed...
September 15, 2016: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/27677334/embryonic-type-na-channel-%C3%AE-subunit-scn3b-masks-the-disease-phenotype-of-brugada-syndrome
#14
Shinichiro Okata, Shinsuke Yuasa, Tomoyuki Suzuki, Shogo Ito, Naomasa Makita, Tetsu Yoshida, Min Li, Junko Kurokawa, Tomohisa Seki, Toru Egashira, Yoshiyasu Aizawa, Masaki Kodaira, Chikaaki Motoda, Gakuto Yozu, Masaya Shimojima, Nozomi Hayashiji, Hisayuki Hashimoto, Yusuke Kuroda, Atsushi Tanaka, Mitsushige Murata, Takeshi Aiba, Wataru Shimizu, Minoru Horie, Kaichiro Kamiya, Tetsushi Furukawa, Keiichi Fukuda
SCN5A is abundant in heart and has a major role in INa. Loss-of-function mutation in SCN5A results in Brugada syndrome (BrS), which causes sudden death in adults. It remains unclear why disease phenotype does not manifest in the young even though mutated SCN5A is expressed in the young. The aim of the present study is to elucidate the timing of the disease manifestation in BrS. A gain-of-function mutation in SCN5A also results in Long QT syndrome type 3 (LQTS3), leading to sudden death in the young. Induced pluripotent stem cells (iPSCs) were generated from a patient with a mixed phenotype of LQTS3 and BrS with the E1784K SCN5A mutation...
September 28, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27619323/early-postpartum-gastric-band-slippage-after-bariatric-surgery-in-an-adolescent-obese-girl
#15
Françoise Schmitt, Philippe Topart, Agnès Salle, Loïc Sentilhes, Natacha Bouhours-Nouet, Régis Coutant, Dominique Weil, Guillaume Podevin
We report here a case of a rarely described complication of laparoscopic adjustable gastric banding (LAGB), slippage during the postpartum period, after LAGB had been performed in an adolescent obese girl. The LAGB had been placed after one year of clinical survey initiated at the age of 16. Maximal pre-operative body mass index (BMI) was 48.5 kg.m(-2) and obesity was associated with insulin resistance. Before pregnancy, there was a loss of 17 Kg (final BMI = 41.5 kg.m(-2)) and a resolution of insulin resistance...
2016: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/27523598/biallelic-ppa2-mutations-cause-sudden-unexpected-cardiac-arrest-in-infancy
#16
Anne Guimier, Christopher T Gordon, François Godard, Gianina Ravenscroft, Myriam Oufadem, Christelle Vasnier, Caroline Rambaud, Patrick Nitschke, Christine Bole-Feysot, Cécile Masson, Stéphane Dauger, Cheryl Longman, Nigel G Laing, Béatrice Kugener, Damien Bonnet, Patrice Bouvagnet, Sylvie Di Filippo, Vincent Probst, Richard Redon, Philippe Charron, Agnès Rötig, Stanislas Lyonnet, Alain Dautant, Loïc de Pontual, Jean-Paul di Rago, Agnès Delahodde, Jeanne Amiel
Sudden unexpected death in infancy occurs in apparently healthy infants and remains largely unexplained despite thorough investigation. The vast majority of cases are sporadic. Here we report seven individuals from three families affected by sudden and unexpected cardiac arrest between 4 and 20 months of age. Whole-exome sequencing revealed compound heterozygous missense mutations in PPA2 in affected infants of each family. PPA2 encodes the mitochondrial pyrophosphatase, which hydrolyzes inorganic pyrophosphate into two phosphates...
September 1, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27460074/ires-inhibition-induces-terminal-differentiation-and-synchronized-death-in-triple-negative-breast-cancer-and-glioblastoma-cells
#17
Christos Vaklavas, William E Grizzle, Hyoungsoo Choi, Zheng Meng, Kurt R Zinn, Kedar Shrestha, Scott W Blume
Internal ribosome entry site (IRES)-mediated translation is a specialized mode of protein synthesis which malignant cells depend on to survive adverse microenvironmental conditions. Our lab recently reported the identification of a group of compounds which selectively interfere with IRES-mediated translation, completely blocking de novo IGF1R synthesis, and differentially modulating synthesis of the two c-Myc isoforms. Here, we examine the phenotypic consequences of sustained IRES inhibition in human triple-negative breast carcinoma and glioblastoma cells...
October 2016: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
https://www.readbyqxmd.com/read/27435969/vertigo-with-sudden-hearing-loss-audio-vestibular-characteristics
#18
Jacob M Pogson, Rachael L Taylor, Allison S Young, Leigh A McGarvie, Sean Flanagan, G Michael Halmagyi, Miriam S Welgampola
Acute vertigo with sudden sensorineural hearing loss (SSNHL) is a rare clinical emergency. Here, we report the audio-vestibular test profiles of 27 subjects who presented with these symptoms. The vestibular test battery consisted of a three-dimensional video head impulse test (vHIT) of semicircular canal function and recording ocular and cervical vestibular-evoked myogenic potentials (oVEMP, cVEMP) to test otolith dysfunction. Unlike vestibular neuritis, where the horizontal and anterior canals with utricular function are more frequently impaired, 74 % of subjects with vertigo and SSNHL demonstrated impairment of the posterior canal gain (0...
October 2016: Journal of Neurology
https://www.readbyqxmd.com/read/27265993/complete-recovery-following-hyperbaric-oxygen-therapy-in-idiopathic-sudden-sensorineural-hearing-loss-a-report-of-two-cases
#19
Swati Agrawal, Nishi Sharma
Idiopathic sudden sensorineural hearing loss (ISSHL), a common otologic emergency, presents mostly as an abrupt onset unilateral hearing loss, aural fullness, often with vertigo and tinnitus, usually upon awakening in the morning. Its etiopathogenesis is multifactorial, so a number of different therapeutic regimens are in practice, hyperbaric oxygen (HBO2) therapy being an effective yet underutilized one. Not all cases recover completely even after treatment. Here we describe two cases of ISSHL, diagnosed on the basis of clinical examination and pure-tone audiometry, who had a complete recovery following administration of HBO2 therapy in addition to medical treatment...
March 2016: Undersea & Hyperbaric Medicine: Journal of the Undersea and Hyperbaric Medical Society, Inc
https://www.readbyqxmd.com/read/27166947/the-chromatin-remodeling-complex-chd4-nurd-controls-striated-muscle-identity-and-metabolic-homeostasis
#20
Pablo Gómez-Del Arco, Eusebio Perdiguero, Paula Sofia Yunes-Leites, Rebeca Acín-Pérez, Miriam Zeini, Antonio Garcia-Gomez, Krishnamoorthy Sreenivasan, Miguel Jiménez-Alcázar, Jessica Segalés, Dolores López-Maderuelo, Beatriz Ornés, Luis Jesús Jiménez-Borreguero, Gaetano D'Amato, David Enshell-Seijffers, Bruce Morgan, Katia Georgopoulos, Abul B M M K Islam, Thomas Braun, José Luis de la Pompa, Johnny Kim, José A Enriquez, Esteban Ballestar, Pura Muñoz-Cánoves, Juan Miguel Redondo
Heart muscle maintains blood circulation, while skeletal muscle powers skeletal movement. Despite having similar myofibrilar sarcomeric structures, these striated muscles differentially express specific sarcomere components to meet their distinct contractile requirements. The mechanism responsible is still unclear. We show here that preservation of the identity of the two striated muscle types depends on epigenetic repression of the alternate lineage gene program by the chromatin remodeling complex Chd4/NuRD...
May 10, 2016: Cell Metabolism
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