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Steinert disease

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 myotomy 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...
October 6, 2018: 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
A Leoni Swart, Christopher F Harrison, Ludwig Eichinger, Michael Steinert, Hubert Hilbi
Environmental bacteria of the genus Legionella naturally parasitize free-living amoebae. Upon inhalation of bacteria-laden aerosols, the opportunistic pathogens grow intracellularly in alveolar macrophages and can cause a life-threatening pneumonia termed Legionnaires' disease. Intracellular replication in amoebae and macrophages takes place in a unique membrane-bound compartment, the Legionella -containing vacuole (LCV). LCV formation requires the bacterial Icm/Dot type IV secretion system, which translocates literally hundreds of "effector" proteins into host cells, where they modulate crucial cellular processes for the pathogen's benefit...
2018: Frontiers in Cellular and Infection Microbiology
Sophie A Poeker, Annelies Geirnaert, Laura Berchtold, Anna Greppi, Lukasz Krych, Robert E Steinert, Tomas de Wouters, Christophe Lacroix
Consumption of fermentable dietary fibers (DFs), which can induce growth and/or activity of specific beneficial populations, is suggested a promising strategy to modulate the gut microbiota and restore health in microbiota-linked diseases. Until today, inulin and fructo-oligosaccharides (FOS) are the best studied DFs, while little is known about the gut microbiota-modulating effects of β-glucan, α-galactooligosaccharide (α-GOS) and xylo-oligosaccharide (XOS). Here, we used three continuous in vitro fermentation PolyFermS model to study the modulating effect of these DFs on two distinct human adult proximal colon microbiota, independently from the host...
March 12, 2018: Scientific Reports
Didier Lecordier, Emmanuelle Cartron, Ljiljana Jovic
INTRODUCTION: the lifestyles of people with myotonic dystrophy type 1 (DM1) are poorly understood and yet their consideration is essential for effective long-term care. The nursing care provided in the reference centers integrates the diversity clinic of this disease in interdisciplinary care, but it is more complicated from a relational point of view. The objective of this qualitative study was to understand the ways of living for a person with DM1, his body and the coping strategies developed...
December 2017: Recherche en Soins Infirmiers
Björn Gebauer, Frank Meyer, Henry Ptok, Ralf Steinert, Ronny Otto, Hans Lippert, Ingo Gastinger
INTRODUCTION:  Aim of this study was to investigate the influence of diabetes mellitus (DM) onto the early postoperative and long-term oncosurgical outcome after surgery for rectal cancer using data prospectively obtained in a representative number of patients. METHODS:  Data (using a registration form of 68 items) from the ongoing multicenter observational study "rectal cancer (primary tumor) - elective surgery" on Quality Assurance was used including years 2008 to 2011...
March 2018: Deutsche Medizinische Wochenschrift
Ana Cotta, Júlia Filardi Paim, Elmano Carvalho, Antonio Lopes da-Cunha-Júnior, Monica M Navarro, Jaquelin Valicek, Miriam Melo Menezes, Simone Vilela Nunes, Rafael Xavier-Neto, Sidney Baptista, Luciano Romero Lima, Reinaldo Issao Takata, Antonio Pedro Vargas
The diagnostic procedure in neuromuscular patients is complex. Knowledge of the relative frequency of neuromuscular diseases within the investigated population is important to allow the neurologist to perform the most appropriate diagnostic tests. OBJECTIVE: To report the relative frequency of common neuromuscular diagnoses in a reference center. METHODS: A 17-year chart review of patients with suspicion of myopathy. RESULTS: Among 3,412 examinations, 1,603 (46...
November 2017: Arquivos de Neuro-psiquiatria
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