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sudden hering loss

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
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
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
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
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
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...
July 26, 2016: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
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
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
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
A I Vinik, C Casellini, M-L Névoret
Here we review some seldom-discussed presentations of diabetic neuropathy, including large fiber dysfunction and peripheral autonomic dysfunction, emphasizing the impact of sympathetic/parasympathetic imbalance. Diabetic neuropathy is the most common complication of diabetes and contributes additional risks in the aging adult. Loss of sensory perception, loss of muscle strength, and ataxia or incoordination lead to a risk of falling that is 17-fold greater in the older diabetic compared to their young nondiabetic counterparts...
2016: International Review of Neurobiology
G Dreier, J Löhler
BACKGROUND: Treating patients requires the inclusion of existing evidence in any health care decision, to be able to choose the best diagnosis or treatment measure or to make valid prognosis statements for a particular patient in consideration of the physician's own expertise.The basis are clinical trials, the results of which are ideally gathered in systematic reviews, rated, summarized and published. In addition to the GCP (Good Clinical Practice)-compliant planning, conducting and analysis of clinical studies it is essential, that all study results are made publicly available, in order to avoid publication bias...
April 2016: Laryngo- Rhino- Otologie
Christian Schmidt, Judith Leibiger, Markus Fendt
One of the major symptoms of narcolepsy is cataplexy, a sudden loss of muscle tone. Despite the advances in understanding the neuropathology of narcolepsy, cataplexy is still treated symptomatically with antidepressants. Here, we investigate in a murine narcolepsy model the hypothesis that the antidepressants specifically blocking norepinephrine reuptake are more potent in treating narcoleptic episodes than the antidepressants blocking of serotonin reuptake. Furthermore, we tested the effects of α1 receptor stimulation and blockade, respectively, on narcoleptic episodes...
July 15, 2016: Behavioural Brain Research
Roger Jovani, Sievert Rohwer
Fault bars are narrow malformations in feathers oriented almost perpendicular to the rachis where the feather vein and even the rachis may break. Breaks in the barbs and barbules result in small pieces of the feather vein being lost, while breaks in the rachis result in loss of the distal portion of the feather. Here, we provide a comprehensive review of 74 papers on fault bar formation in hopes of providing a clearer approach to their study. First, we review the evidence that the propensity to develop fault bars is modified by natural selection...
April 8, 2016: Biological Reviews of the Cambridge Philosophical Society
Lisa-Mareike Scheid, Matias Mosqueira, Selina Hein, Mandy Kossack, Lonny Juergensen, Marion Mueller, Benjamin Meder, Rainer H A Fink, Hugo A Katus, David Hassel
AIMS: Regulatory proteins of the sarcomere are pivotal for normal heart function and when affected by mutations are frequently causing cardiomyopathy. The exact function of these regulatory proteins and how mutations in these translate into distinct cardiomyopathy phenotypes remains poorly understood. Mutations in the essential myosin light chain (ELC) are linked to human cardiomyopathy characterized by a marked variability in disease phenotypes and high incidences of sudden death. Here we studied the role of the highly conserved S195 phosphorylation site of ELC using heterozygous adult zebrafish lazy susan (laz(m647)) in regulating contractile function in normal physiology and disease...
July 1, 2016: Cardiovascular Research
Shuchi Gulati, Zélia M Corrêa, Nagla Karim, Stephen Medlin
CONTEXT: Elderly patients with visual loss often have age-related macular degeneration, diabetic retinopathy, glaucoma, and cataract as common causes of visual loss. Other less common etiologies should be considered, especially in those presenting with systemic associations. CASE REPORT: The patient discussed in our review is an 80-year-old female, with a history of diabetic retinopathy and macular degeneration who presented with a sudden deterioration of vision...
January 2016: North American Journal of Medical Sciences
Jan Aam Kamps, Guido Krenning
The loss of cardiomyocytes during injury and disease can result in heart failure and sudden death, while the adult heart has a limited capacity for endogenous regeneration and repair. Current stem cell-based regenerative medicine approaches modestly improve cardiomyocyte survival, but offer neglectable cardiomyogenesis. This has prompted the need for methodological developments that crease de novo cardiomyocytes. Current insights in cardiac development on the processes and regulatory mechanisms in embryonic cardiomyocyte differentiation provide a basis to therapeutically induce these pathways to generate new cardiomyocytes...
February 26, 2016: World Journal of Cardiology
Muhammad Raza Cheema, Shakawan M Ismaeel
Temporal arteritis, also known as giant cell arteritis (GCA), is a systemic vasculitis that predominantly involves the temporal arteries. It is a medical emergency and should be treated promptly as it can lead to permanent loss of vision. It is very commonly associated with a raised erythrocyte sedimentation rate (ESR), usually >50 mm/h, one of the essential criteria defined by the American College of Rheumatology classification of GCA. Here, we describe the case of a 73-year-old male presenting with a 2-day history of a sudden onset of a severe left-sided headache, which had the signs and symptoms consistent with GCA but he had an ESR of only 27 mm/h...
2016: Clinical Interventions in Aging
Ihsen Zairi, Khadija Mzoughi, Zouhayer Jnifene, Fethia Ben Moussa, Sofiene Kammoun, Sana Fennira, Nidhal Ben Moussa, Jihen Brour, Monia Cheour, Sondos Kraiem
Here we report a case of central retinal artery occlusion revealing an ischemic cardiomyopathy. A 54-year old smoker man presented at the hospital because of sudden visual loss in his left eye. There was cherry-red spot in the macula in his left eye. We performed a fluorescein angiogram and cervical color Doppler. Later investigations revealed an ischemic cardiomyopathy undiagnosed until then.
2015: Pan African Medical Journal
Weronika Pociej-Marciak, Izabella Karska-Basta, Marek Kuźniewski, Agnieszka Kubicka-Trząska, Bożena Romanowska-Dixon
PURPOSE: We report here a unique case of a sudden loss of vision as the first symptom of an advanced chronic nephropathy. METHODS AND RESULTS: A 25-year-old man was referred to the Department of Ophthalmology with sudden visual deterioration presumptively diagnosed as bilateral retinitis. The patient had never been under any medical care before and had never had any clinical signs of any chronic disease. He underwent an ophthalmic examination with optical coherence tomography (OCT)...
September 2015: Case Reports in Ophthalmology
Jin-bo Zhang, Liang Wang, Wei Zhao, Hui-feng Hu, Xiao-juan Feng, Christoph Müller, Zu-cong Cai
Climate changes are predicted to increase extreme rainfall events in semiarid and arid region in Northern Hemisphere. Nutrient cycles will be affected by the precipitation changes but so far only very little is known how soil N transformations may respond. Here we investigated gross soil N transformation rates and their response to simulated rainfall events across Northeast China Transect (NECT). The results showed that gross N mineralisation rate, nitrification rate and nitrification to mineralisation ratio significantly increased as the humidity index decreased along NECT, resulting in NO3(-) as the predominant inorganic N form...
2016: Scientific Reports
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