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Steinert disease

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https://www.readbyqxmd.com/read/30042087/o-083-is-muscle-strength-related-to-walking-capacities-in-adults-with-steinert-disease
#1
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.
June 28, 2018: Gait & Posture
https://www.readbyqxmd.com/read/29915278/alterations-in-neuronal-metabolism-contribute-to-the-pathogenesis-of-prion-disease
#2
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
https://www.readbyqxmd.com/read/29875732/cells-of-matter-in-vitro-models-for-myotonic-dystrophy
#3
REVIEW
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
https://www.readbyqxmd.com/read/29782025/injections-of-lipopolysaccharide-into-mice-to-mimic-entrance-of-microbial-derived-products-after-intestinal-barrier-breach
#4
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
https://www.readbyqxmd.com/read/29770365/is-the-epicardial-left-ventricular-lead-implantation-an-alternative-approach-to-percutaneous-attempt-in-patients-with-steinert-disease-a-case-report
#5
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
https://www.readbyqxmd.com/read/29716962/bruno-3-regulates-sarcomere-component-expression-and-contributes-to-muscle-phenotypes-of-myotonic-dystrophy-type-1
#6
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
https://www.readbyqxmd.com/read/29701810/relationship-between-the-gut-microbiome-and-brain-function
#7
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
https://www.readbyqxmd.com/read/29644427/-gender-specific-differences-of-the-early-postoperative-and-oncosurgical-long-term-outcome-in-rectal-cancer-data-obtained-in-a-prospective-multicenter-observational-study
#8
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
https://www.readbyqxmd.com/read/29552544/-acanthamoeba-and-dictyostelium-as-cellular-models-for-legionella-infection
#9
REVIEW
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
https://www.readbyqxmd.com/read/29531228/understanding-the-prebiotic-potential-of-different-dietary-fibers-using-an-in-vitro-continuous-adult-fermentation-model-polyferms
#10
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
https://www.readbyqxmd.com/read/29436800/-understanding-people-with-steinert%C3%A2-s-disease-to-better-care-for-them
#11
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
https://www.readbyqxmd.com/read/29237205/-how-does-diabetes-mellitus-influence-early-postoperative-results-and-survival-in-rectal-cancer
#12
MULTICENTER STUDY
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
https://www.readbyqxmd.com/read/29236822/the-relative-frequency-of-common-neuromuscular-diagnoses-in-a-reference-center
#13
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
https://www.readbyqxmd.com/read/29196274/neuromuscular-diseases-diagnosis-and-management
#14
REVIEW
P Mary, L Servais, R Vialle
Neuromuscular diseases (NMDs) affect the peripheral nervous system, which includes the motor neurons and sensory neurons; the muscle itself; or the neuromuscular junction. Thus, the term NMDs encompasses a vast array of different syndromes. Some of these syndromes are of direct relevance to paediatric orthopaedic surgeons, either because the presenting manifestation is a functional sign (e.g., toe-walking) or deformity (e.g., pes cavus or scoliosis) suggesting a need for orthopaedic attention or because orthopaedic abnormalities requiring treatment develop during the course of a known NMD...
February 2018: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/29177167/impact-of-body-mass-index-on-early-postoperative-and-long-term-outcome-after-rectal-cancer-surgery
#15
Björn Gebauer, Frank Meyer, Henry Ptok, Ralf Steinert, Ronny Otto, Hans Lippert, Ingo Gastinger
Background: The aim of this study was to investigate the impact of obesity and underweight onto early postoperative and long-term oncological outcome after surgery for rectal cancer. Methods: Data from 2008 until 2011 was gathered by a German prospective multicenter observational study. 62 items were reported by the physicians in charge, and a consecutive follow-up was performed if the patient had signed a consent form. Patients were subclassified into: underweight, normal weight, overweight, and obese - using the definitions of the World Health Organization...
October 2017: Visceral Medicine
https://www.readbyqxmd.com/read/28988807/increased-risk-for-complications-following-removal-of-hardware-in-patients-with-liver-disease-pilon-or-pelvic-fractures-a-regression-analysis
#16
Bryan D Brown, Justin N Steinert, John W Stelzer, Richard S Yoon, Joshua R Langford, Kenneth J Koval
PURPOSE: Indications for removing orthopedic hardware on an elective basis varies widely. Although viewed as a relatively benign procedure, there is a lack of data regarding overall complication rates after fracture fixation. The purpose of this study is to determine the overall short-term complication rate for elective removal of orthopedic hardware after fracture fixation and to identify associated risk factors. MATERIALS AND METHODS: Adult patients indicated for elective hardware removal after fracture fixation between July 2012 and July 2016 were screened for inclusion...
December 2017: Injury
https://www.readbyqxmd.com/read/28895373/nodular-morphea-in-a-patient-with-steinert-disease
#17
Elena Campione, Alessandra Ventura, Virginia Garofalo, Claudia Torti, Roberto Massa, Chiara Terracciano, Augusto Orlandi, Luca Bianchi
No abstract text is available yet for this article.
September 8, 2017: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/28879509/il26-modulates-cytokine-response-and-anti-tnf-consumption-in-crohn-s-disease-patients-with-bacterial-dna
#18
Paula Piñero, Oriol Juanola, Ana Gutiérrez, Pedro Zapater, Paula Giménez, Anna Steinert, Laura Sempere, José M González-Navajas, Jan H Niess, Rubén Francés
Interleukin IL26 supports killing of microbes and the innate sensing of bacterial-derived DNA (bactDNA). We evaluated the relationship between IL26 serum levels and bactDNA translocation in Crohn's disease (CD). We ran a prospective study on CD patients in remission. IL26 common polymorphisms, serum cytokines and complement protein, amplified-bactDNA, and anti-TNF-α were evaluated. In vitro PBMC analysis was performed. Three hundred and thirteen patients were included (mean CDAI: 83.6 ± 32.8; mean fecal calprotectin: 55...
November 2017: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
https://www.readbyqxmd.com/read/28864472/the-stimulation-of-macrophages-with-tlr-ligands-supports-increased-il-19-expression-in-inflammatory-bowel-disease-patients-and-in-colitis-models
#19
Anna Steinert, Ioannis Linas, Berna Kaya, Mohamed Ibrahim, Andreas Schlitzer, Petr Hruz, Katarina Radulovic, Luigi Terracciano, Andrew J Macpherson, Jan Hendrik Niess
IL-19, a member of the IL-10 cytokine family that signals through the IL-20 receptor type I (IL-20Rα:IL-20Rβ), is a cytokine whose function is not completely known. In this article, we show that the expression of IL19 in biopsies of patients with active ulcerative colitis was increased compared with patients with quiescent ulcerative colitis and that colitis was attenuated in IL-19-deficient mice. The disruption of the epithelial barrier with dextran sodium sulfate leads to increased IL-19 expression. Attenuated colitis in IL-19-deficient animals was associated with reduced numbers of IL-6-producing macrophages in the inflamed colonic lamina propria...
October 1, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28702961/cutaneous-manifestations-in-steinert%C3%A2-s-disease-apropos-of-four-clinical-cases
#20
F Cona, J Lotti, M Fioranelli, M G Roccia, T Lotti, C Guarneri
Myotonic dystrophy type 1 (MD1) (OMIM 160900, Steinert disease) is the most common muscular disease, with an estimated worldwide prevalence ranging from 0.5 to 18/10,000 (1). MD1 is an autosomal dominant multisystem disorder that affects skeletal and smooth muscles as well as eyes, heart, endocrine system, and central nervous system. Available data on skin and adnexal involvement that has been demonstrated as a hallmark of the neurological disease are still poor. The aim of this case report-based, mini review on MD1 and skin is to highlight the importance of such superficial signs to be easily detected in the physical examination, and to evaluate the occurrence of these cutaneous manifestations in presence of various degrees of the disease and gene mutations...
April 2017: Journal of Biological Regulators and Homeostatic Agents
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