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Steinert disease

Jereme G Spiers, Hsiao-Jou Cortina Chen, Julie-Myrtille Bourgognon, Joern R Steinert
Stress is a multimodal response involving the coordination of numerous body systems in order to maximize the chance of survival. However, long term activation of the stress response results in neuronal oxidative stress via reactive oxygen and nitrogen species generation, contributing to the development of depression. Stress-induced depression shares a high comorbidity with other neurological conditions including Alzheimer's disease (AD) and dementia, often appearing as one of the earliest observable symptoms in these diseases...
February 1, 2019: Free Radical Biology & Medicine
Lina Scheithauer, Michael Steinert
Legionnaires' disease is a severe pneumonia caused by inhalation of Legionella pneumophila. Although powerful infection models ranging from monocellular host systems to mammals were developed, numerous intra- and extracellular interactions of L. pneumophila factors with human lung tissue structures remain unknown. Therefore, we developed and applied a novel infection model for Legionnaires' disease comprising living human lung tissue explants (HLTEs). This model allows analyzing Legionella infections at a unique level of complexity and narrows the gap between current infection models and postmortem histopathology analyses of infected patients...
2019: Methods in Molecular Biology
Gerardo Gutiérrez Gutiérrez, Jordi Díaz-Manera, Míriam Almendrote, Sharona Azriel, José Eulalio Bárcena, Pablo Cabezudo García, Ana Camacho Salas, Carlos Casanova Rodríguez, Ana María Cobo Esteban, Patricia Díaz Guardiola, Roberto Fernández-Torrón, María Pía Gallano Petit, Pablo García Pavía, María Gómez Gallego, Antonio José Gutiérrez Martínez, Ivonne Jericó, Solange Kapetanovic García, Adolfo López de Munaín Arregui, Loreto Martorell, Germán Morís de la Tassa, Raúl Moreno Zabaleta, José Luis Muñoz-Blanco, Juana Olivar Roldán, Samuel Ignacio Pascual Pascual, Rafael Peinado Peinado, Helena Pérez, Juan José Poza Aldea, María Rabasa, Alba Ramos, Alfredo Rosado Bartolomé, Miguel Ángel Rubio Pérez, Jon Andoni Urtizberea, Gustavo Zapata-Wainberg, Eduardo Gutiérrez-Rivas
BACKGROUND AND OBJECTIVES: Steinert's disease or myotonic dystrophy type 1 (MD1), (OMIM 160900), is the most prevalent myopathy in adults. It is a multisystemic disorder with dysfunction of virtually all organs and tissues and a great phenotypical variability, which implies that it has to be addressed by different specialities with experience in the disease. The knowledge of the disease and its management has changed dramatically in recent years. This guide tries to establish recommendations for the diagnosis, prognosis, follow-up and treatment of the complications of MD1...
January 23, 2019: Medicina Clínica
Samuel E Weinberg, Benjamin D Singer, Elizabeth M Steinert, Carlos A Martinez, Manan M Mehta, Inmaculada Martínez-Reyes, Peng Gao, Kathryn A Helmin, Hiam Abdala-Valencia, Laura A Sena, Paul T Schumacker, Laurence A Turka, Navdeep S Chandel
Regulatory T cells (Treg cells), a distinct subset of CD4+ T cells, are necessary for the maintenance of immune self-tolerance and homeostasis1,2 . Recent studies have demonstrated that Treg cells exhibit a unique metabolic profile, characterized by an increase in mitochondrial metabolism relative to other CD4+ effector subsets3,4 . Furthermore, the Treg cell lineage-defining transcription factor, Foxp3, has been shown to promote respiration5,6 ; however, it remains unknown whether the mitochondrial respiratory chain is required for the T cell-suppression capacity, stability and survival of Treg cells...
January 9, 2019: Nature
Katherine S Yanagi, Zhijin Wu, Joshua Amaya, Natalie Chapkis, Amanda M Duffy, Kaitlyn H Hajdarovic, Aaron Held, Arjun D Mathur, Kathryn Russo, Veronica H Ryan, Beatrice L Steinert, Joshua P Whitt, Justin R Fallon, Nicolas L Fawzi, Diane Lipscombe, Robert A Reenan, Kristi A Wharton, Anne C Hart
Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease that has significant overlap with frontotemporal dementia (FTD). Mutations in specific genes have been identified that can cause and/or predispose patients to ALS. However, the clinical variability seen in ALS patients suggests that additional genes impact pathology, susceptibility, severity, and/or progression of the disease. To identify molecular pathways involved in ALS, we undertook a meta-analysis of published genetic modifiers both in patients and in model organisms, and undertook bioinformatic pathway analysis...
January 1, 2019: Neuroscience
Julie-Myrtille Bourgognon, Joern R Steinert
Neurodegenerative disorders are often associated with cellular dysfunction caused by underlying protein-misfolding signalling. Numerous neuropathologies are diagnosed at late stage symptomatic changes which occur in response to these molecular malfunctions and treatment is often too late or restricted only to the slowing of further cell death. Important new strategies to identify early biomarkers with predictive value to intervene with disease progression at stages where cell dysfunction has not progressed irreversibly is of paramount importance...
March 2019: Neural Regeneration Research
Laura Mesa-Álvarez, Ana Batalla, Álvaro Iglesias-Puzas, Carlos Álvarez, Ángeles Flórez
Pilomatricoma is usually a single lesion. However, some patients present with more than one, a fact that has been reported in association with several systemic diseases. The aim of this analysis is to determine the prevalence of multiple pilomatricomas (MP) in our institution as well as to describe their clinical features and associated comorbidities. This is a retrospective analysis reviewing patients with a histological diagnosis of pilomatricoma registered in the database of the Pathology Department of our institution, from January 2005 to March 2017...
October 29, 2018: American Journal of Dermatopathology
Rebecca Geiger, Jessica Steinert, Grant McElwee, Jennifer Carver, Robert Montanez, Julie Niewoehner, Cassandra Clark, Brigg Reilley
BACKGROUND: American Indian/Alaska Natives (AI/ANs) are disproportionately affected by hepatitis C virus (HCV), with more than double the national rate of HCV-related mortality as well as the highest rates of acute HCV. The "cascade of care" for HCV consists of screening, confirmation, treatment, and sustained virologic clearance (SVR)/cure. At each stage of this process, patients can be lost to follow-up. Federal health care facilities in an administrative area of the Indian Health Service conducted a review to identify and address gaps in HCV treatment...
January 2018: Journal of Primary Care & Community Health
J Rasch, C M Ünal, A Klages, Ü Karsli, N Heinsohn, R M H J Brouwer, M Richter, A Dellmann, M Steinert
The gamma-proteobacterium Legionella pneumophila is the causative agent of Legionnaires' disease, an atypical pneumonia that manifests itself with severe lung damage. L. pneumophila , a common inhabitant of fresh water environments, replicates in free-living amoebae, and persists in biofilms in natural and man-made water systems. Its environmental versatility is reflected in its ability to survive and grow within a broad temperature range as well as its capability to colonize and infect a wide range of hosts including protozoa and humans...
October 15, 2018: Infection and Immunity
Leonardo Diniz Correa Pinto, Cláudia Helena Ribeiro da Silva, Pedro Marcos Silva E Gonçalves, Roberto José Valadares
BACKGROUND AND OBJECTIVES: Ultrasound-guided upper limb blocks may provide great benefits to patients with serious diseases. Patients with Steinert's disease have muscle weakness and risk of triggering myotony or malignant hyperthermia due to the use of anesthetic agents and surgical stress. The objective of this report was to demonstrate a viable alternative for clavicle fracture surgery with upper trunk and supraclavicular nerve block, thus reducing the spread of local anesthetic to the phrenic nerve in a patient with muscular dystrophy...
January 2019: Revista Brasileira de Anestesiologia
Rocco Franco, M Miranda, L Di Renzo, A Barlattani, A De Lorenzo, P Bollero
BACKGROUND: Myotonic dystrophy type I (DM1) is a genetic autosomal dominant disorder; malignant hyperthermia is a possible complication. It may occur following administration of some halogenated general anesthetics, muscle relaxants, or surgical stress. AIM: The purpose of this case report is to evaluate the dental management of patients with Steinert's disease. CASE REPORT: The patient needed dental extraction. A locore-gional paraperiosteal anesthesia was performed using bupiva-caine without vasoconstrictor and sedation with nitrous oxide...
September 1, 2018: Journal of Contemporary Dental Practice
Erich Flammer, Tilman Steinert
BACKGROUND: In the federal state of Baden-Wuerttemberg, collecting data on coercive measures in psychiatric hospitals and supplying this data to a central register has been mandatory since 2015, so that statewide comprehensive data is available. This first full survey of the use of coercive measures in German psychiatric hospitals presents data of the year 2016 and allows comparisons with previous smaller samples. METHODS: We analyzed the register data. The analysis is based on data provided by 32 facilities with 108,863 treated cases...
August 27, 2018: Psychiatrische Praxis
M Harvey, M Gosselin, M Vocos, B Sinclair, C Dusseault-Picard, L N Veilleux, L Ballaz
No abstract text is available yet for this article.
September 2018: Gait & Posture
Julie-Myrtille Bourgognon, Jereme G Spiers, Hannah Scheiblich, Alexey Antonov, Sophie J Bradley, Andrew B Tobin, Joern R Steinert
Neurodegenerative conditions are characterised by a progressive loss of neurons, which is believed to be initiated by misfolded protein aggregations. During this time period, many physiological and metabolomic alterations and changes in gene expression contribute to the decline in neuronal function. However, these pathological effects have not been fully characterised. In this study, we utilised a metabolomic approach to investigate the metabolic changes occurring in the hippocampus and cortex of mice infected with misfolded prion protein...
June 18, 2018: Cell Death and Differentiation
Magdalena Matloka, Arnaud F Klein, Frédérique Rau, Denis Furling
Myotonic dystrophy type 1 (DM1 also known as Steinert disease) is a multisystemic disorder mainly characterized by myotonia, progressive muscle weakness and wasting, cognitive impairments, and cardiac defects. This autosomal dominant disease is caused by the expression of nuclear retained RNAs containing pathologic expanded CUG repeats that alter the function of RNA-binding proteins in a tissue-specific manner, leading ultimately to neuromuscular dysfunction and clinical symptoms. Although considerable knowledge has been gathered on myotonic dystrophy since its first description, the development of novel relevant disease models remains of high importance to investigate pathophysiologic mechanisms and to assess new therapeutic approaches...
2018: Frontiers in Neurology
Katarina Raduolovic, Rachel Mak'Anyengo, Berna Kaya, Anna Steinert, Jan Hendrik Niess
The intestinal epithelial barrier separates the host from the microbiota that is normally tolerated or ignored. The breach of this barrier results in the entrance of bacteria or bacteria-derived products into the host, accessing the host circulation and inner organs leading to the uncontrolled inflammation as observed in patients with inflammatory bowel disease (IBD), that are characterized by an increased intestinal epithelial permeability. To mimic the entrance of bacterial-derived compounds into the host, an endotoxemia model has been adopted in which lipopolysaccharide (LPS), a component of the outer cell wall of Gram-negative bacteria, were injected into mice...
May 2, 2018: Journal of Visualized Experiments: JoVE
Andrea Antonio Papa, Anna Rago, Roberta Petillo, Paola D'Ambrosio, Marianna Scutifero, Marisa DE Feo, Ciro Maiello, Alberto Palladino
Steinert's disease or Myotonic Dystrophy type 1 (DM1) is an autosomal dominant multisystemic disorder characterized by myotonia, muscle and facial weakness, cataracts, cognitive, endocrine and gastrointestinal involvement, and cardiac conduction abnormalities. Although mild myocardial dysfunction may be detected in this syndrome with age, overt myocardial dysfunction with heart failure is not frequent. Cardiac resynchronization therapy is an effective treatment to improve morbidity and reduce mortality in patients with DM1 showing intra-ventricular conduction delay and/or congestive heart failure...
December 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
Lucie Picchio, Vincent Legagneux, Stephane Deschamps, Yoan Renaud, Sabine Chauveau, Luc Paillard, Krzysztof Jagla
Steinert disease, or myotonic dystrophy type 1 (DM1), is a multisystemic disorder caused by toxic noncoding CUG repeat transcripts, leading to altered levels of two RNA binding factors, MBNL1 and CELF1. The contribution of CELF1 to DM1 phenotypes is controversial. Here, we show that the Drosophila CELF1 family member, Bru - 3, contributes to pathogenic muscle defects observed in a Drosophila model of DM1. Bru-3 displays predominantly cytoplasmic expression in muscles and its muscle-specific overexpression causes a range of phenotypes also observed in the fly DM1 model, including affected motility, fiber splitting, reduced myofiber length and altered myoblast fusion...
May 21, 2018: Disease Models & Mechanisms
M Hasan Mohajeri, Giorgio La Fata, Robert E Steinert, Peter Weber
It has become increasingly evident in recent years that the gut microbiome and the brain communicate in a bidirectional manner, with each possibly affecting the other's functions. Substantial research has aimed to understand the mechanisms of this interaction and to outline strategies for preventing or treating nervous system-related disturbances. This review explores the evidence demonstrating how the gut microbiome may affect brain function in adults, thereby having an impact on stress, anxiety, depression, and cognition...
July 1, 2018: Nutrition Reviews
J Katzenstein, R Steinert, H Ptok, R Otto, I Gastinger, H Lippert, F Meyer
BACKGROUND: Gender-specific aspects have been increasingly considered in clinical medicine, also in oncological surgery. AIM: To analyze gender-specific differences of early postoperative and oncological outcomes after rectal cancer resection based on data obtained in a prospective multicenter observational study. PATIENTS AND METHODS: As part of the multicenter prospective observational study "Quality assurance in primary rectal cancer", data on tumor site, exogenic and endogenic risk factors, neoadjuvant treatment, surgical procedures, tumor stage, intraoperative and postoperative complications of patients with the histological diagnosis of rectal cancer were registered...
June 2018: Der Chirurg; Zeitschrift Für Alle Gebiete der Operativen Medizen
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