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https://www.readbyqxmd.com/read/29771377/alternative-splicing-analysis-in-human-monocytes-and-macrophages-reveals-mbnl1-as-major-regulator
#1
Hongfei Liu, Paolo A Lorenzini, Fan Zhang, Shaohai Xu, Mei Su M Wong, Jie Zheng, Xavier Roca
We report the detailed transcriptomic profiles of human innate myeloid cells using RNA sequencing. Monocytes migrate from blood into infected or wounded tissue to differentiate into macrophages, and control inflammation via phagocytosis or cytokine secretion. We differentiated culture primary monocytes with either GM- or M-CSF to obtain pro- or anti-inflammatory macrophages, and respectively activated them with either LPS/IFNγ or anti-inflammatory cytokines. We also treated the THP-1 monocytic cell line with PMA and similar cytokines to mimic differentiation and activation...
May 16, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/29771332/mechanisms-of-skeletal-muscle-wasting-in-a-mouse-model-for-myotonic-dystrophy-type-1
#2
Ginny R Morriss, Kimal Rajapakshe, Shixia Huang, Cristian Coarfa, Thomas A Cooper
Myotonic dystrophy type 1 (DM1) is a multisystemic disease resulting in severe muscle weakening and wasting. DM1 is caused by expansion of CTG repeats in the 3'-UTR of the DMPK gene. We have developed an inducible, skeletal muscle-specific mouse model of DM1 (CUG960) that expresses 960 CUG repeats in the context of human DMPK exons 11-15. CUG960 RNA-expressing mice induced at PN1, as well as adult-onset animals, show clear, measurable muscle wasting accompanied by severe histological defects including central myonuclei, reduced fiber cross sectional area, increased percentage of oxidative myofibers, and the presence of nuclear RNA foci that colocalize with Mbnl1 protein...
May 16, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29770366/complete-resolution-of-left-atrial-appendage-thrombosis-with-oral-dabigatran-etexilate-in-a-patient-with-myotonic-dystrophy-type-1-and-atrial-fibrillation
#3
Anna Rago, Andrea Antonio Papa, Giulia Arena, Marco Mosella, Antonio Cassese, Alberto Palladino, Paolo Golino
Myotonic Dystrophy type 1 (DM1) is the most common muscular dystrophy in adult life characterized by muscle dysfunction and cardiac conduction abnormalities. Atrial fibrillation frequently occurs in DM1 patients. It's related to the discontinuous and inhomogeneous propagation of sinus impulses and to the prolongation of atrial conduction time, caused by progressive fibrosis and fatty replacement of the myocardium. AF predisposes to a hyper-coagulable state and to an increased risk of thromboembolism. We report the first case of complete resolution of left atrial appendage thrombosis with oral dabigatran etexilate in a myotonic dystrophy type I patient with atrial fibrillation scheduled for transesophageal echocardiogram-guided direct current cardioversion...
December 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
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
#4
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/29770362/study-of-anti-m%C3%A3-llerian-hormone-levels-in-patients-with-myotonic-dystrophy-type-1-preliminary-results
#5
Manuela Ergoli, Massimo Venditti, Raffaele Dotolo, Esther Picillo, Sergio Minucci, Luisa Politano
Myotonic dystrophy type 1 is a multisystemic disorder characterized by myotonia, muscle weakness and involvement of several organs and apparatus such as heart, lungs, eye, brain and endocrine system. Hypogonadism and reproductive abnormalities are frequently reported. A progressive testicular atrophy occurs in about 80% in the affected males leading to Leydig cell hyperproliferation and elevated basal follicle stimulating hormone (FSH) levels. Anti-Müllerian hormone (AMH) - a dimeric glycoprotein belonging to the super-family of transforming grow factor beta (TGF-beta) - is the earliest Sertoli cell hormone secreted in males and, together with inhibin B and FSH, is an important indicator of Sertoli cell function...
December 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29770119/core-clinical-phenotypes-in-myotonic-dystrophies
#6
REVIEW
Stephan Wenninger, Federica Montagnese, Benedikt Schoser
Myotonic dystrophy type 1 (DM1) and type 2 (DM2) represent the most frequent multisystemic muscular dystrophies in adulthood. They are progressive, autosomal dominant diseases caused by an abnormal expansion of an unstable nucleotide repeat located in the non-coding region of their respective genes DMPK for DM1 and CNBP in DM2. Clinically, these multisystemic disorders are characterized by a high variability of muscular and extramuscular symptoms, often causing a delay in diagnosis. For both subtypes, many symptoms overlap, but some differences allow their clinical distinction...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29764215/myotonic-dystrophytype-1-report-of-non-24-h-sleep-wake-disorder-with-excessive-daytime-sleepiness
#7
Lucio Huebra Pimentel Filho, Ana Carolina Dias Gomes, Bruno Gonçalves, Sergio Tufik, Fernando Morgadinho Coelho
Myotonic dystrophy (MD) is a neuromuscular disease with myotonia, progressive weakness, and involvement of CNS, heart, and gastrointestinal system. Excessive daytime sleepiness (EDS) in myotonic dystrophy type 1 (MD1) is related to sleep breathing diseases, restless leg syndrome, periodic limb movements during sleep and narcoleptic-like phenotype. However, authors highlight a central dysfunction of sleep regulation. We describe a 26-year-old, female, MD1 patient with EDS. Sleep diary/actigraphy evidenced two different circadian periods with values of 1442 and 1522 min...
May 15, 2018: Chronobiology International
https://www.readbyqxmd.com/read/29749332/myotonic-dystrophy-type-1-and-pseudo-obstruction-in-a-child-with-smooth-muscle-%C3%AE-actin-deficiency-and-eosinophilic-myenteric-plexitis
#8
Gloria Pelizzo, Valeria Calcaterra, Vincenzo Villanacci, Giovanni Battista Mura, Gabrio Bassotti
Myotonic dystrophy (MD) frequently involves the gastrointestinal tract, where it can manifest as chronic intestinal pseudo-obstruction (CIPO), particularly in adults. This manifestation is quite uncommon in children. We report the case of a 12-year-old boy with MD type 1 and CIPO, in which a pathologic assessment revealed an association with smooth muscle α-actin deficiency in the external muscular layer of the ileum, and with features of eosinophilic plexitis and eosinophilic muscle infiltration in the colon...
March 2018: Turkish Journal of Gastroenterology: the Official Journal of Turkish Society of Gastroenterology
https://www.readbyqxmd.com/read/29748973/afm-nano-mechanical-study-of-the-beating-profile-of-hipsc-derived-cardiomyocytes-beating-bodies-wt-and-dm1
#9
S Dinarelli, M Girasole, P Spitalieri, R V Talarico, M Murdocca, A Botta, G Novelli, R Mango, F Sangiuolo, G Longo
Myotonic Dystrophy type 1 (DM1) is the most common form of muscular dystrophy in adults, characterized by a variety of multisystemic features and associated with cardiac anomalies. Among cardiac phenomena, conduction defects, ventricular arrhythmias, and dilated cardiomyopathy represent the main cause of sudden death in DM1 patients. Patient-specific induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) represent a powerful in vitro model for molecular, biochemical, and physiological studies of disease in the target cells...
May 10, 2018: Journal of Molecular Recognition: JMR
https://www.readbyqxmd.com/read/29737310/is-laparoscopic-approach-for-wandering-spleen-in-children-an-option
#10
REVIEW
Gratiana Oana Alqadi, Amulya K Saxena
Aim: Wandering spleen present generally as an acute abdomen after twisting of the splenic vascular pedicle. This study aimed to review the literature with regard to the management and outcomes of the laparoscopy in children with wandering spleen. Methods: The literature was reviewed for articles on PubMed with regard to the following search terms 'laparoscopy', 'wandering', 'spleen' and 'children'. The inclusion criteria included article only in the paediatric age group of 0-16...
May 4, 2018: Journal of Minimal Access Surgery
https://www.readbyqxmd.com/read/29736701/affinity-capillary-electrophoresis-for-identification-of-active-drug-candidates-in-myotonic-dystrophy-type-1
#11
Ioan O Neaga, Stephanie Hambye, Ede Bodoki, Claudio Palmieri, Eugénie Ansseau, Alexandra Belayew, Radu Oprean, Bertrand Blankert
Myotonic dystrophy type 1 (DM1) is an autosomal dominantly inherited degenerative disease with a slow progression. At the present, there is no commercially available treatment, but sustained effort is currently undertaken for the development of a promising lead compound. In the present paper we report the development of a fast, versatile, and cost-effective affinity capillary electrophoresis (ACE) method for the screening and identification of potential drug candidates targeting pathological ARN probes relevant for DM1...
May 8, 2018: Analytical and Bioanalytical Chemistry
https://www.readbyqxmd.com/read/29735719/reduction-of-cellular-nucleic-acid-binding-protein-encoded-by-a-myotonic-dystrophy-type-2-gene-causes-muscle-atrophy
#12
Christina Wei, Lauren Stock, Christiane Schneider-Gold, Claudia Sommer, Nikolai A Timchenko, Lubov Timchenko
Myotonic Dystrophy type 2 (DM2) is a neuromuscular disease caused by an expansion of intronic CCTG repeats in the CNBP gene which encodes a protein regulating translation and transcription. To better understand the role of CNBP in DM2 pathology, we examined skeletal muscle in a new model of Cnbp knock out (KO) mice. This study showed that a loss of Cnbp disturbs myofibrillar sarcomeric organization at birth. Surviving homozygous Cnbp KO mice develop muscle atrophy at young age. Skeletal muscle phenotype in heterozygous Cnbp KO mice was milder, but they develop severe muscle wasting at advanced age...
May 7, 2018: Molecular and Cellular Biology
https://www.readbyqxmd.com/read/29716962/bruno-3-regulates-sarcomere-components-expression-and-contributes-to-muscle-phenotypes-of-myotonic-dystrophy-type-1
#13
L Picchio, V Legagneux, S Deschamps, Y Renaud, S Chauveau, L Paillard, K Jagla
Steinert disease or Myotonic dystrophy type 1 (DM1) is a multisystemic disorder caused by toxic non-coding 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 Drosophila CELF1 family member Bru - 3, contributes to pathogenic muscle defects observed in 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 fly DM1 model including affected motility, fiber splitting, reduced myofiber length and altered myoblast fusion...
April 30, 2018: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29693947/use-of-sugammadex-in-a-patient-with-myotonic-dystrophy-undergoing-laparoscopic-cholecystectomy
#14
Rieko Uno, Shoko Matsuda, Kohei Murao, Kumiko Nakamura, Michiyo Shirakawa, Koh Shingu
A 37-year-old female patient with myotonic dystrophy was scheduled for laparoscopic cholecystectomy for gall stone under general anesthesia with continuous propofol infusion. Rocuronium was administered with careful monitoring using TOF- Watch®, measuring train-of-four count (Tc), TOF ratio (Tr), and posttetanic count The total amount of rocuronium was 70 mg ; 0.6 mg .kg⁻1 for anesthetic induction and 0.3 mg .kg⁻1 when Tc exceeded 1. When the operation was completed, Tc was 4, Tr was uncountable and she showed reaction to calling her name...
May 2017: Masui. the Japanese Journal of Anesthesiology
https://www.readbyqxmd.com/read/29687899/myotonic-dystrophy-and-developmental-regulation-of-rna-processing
#15
James D Thomas, Ruan Oliveira, Łukasz J Sznajder, Maurice S Swanson
Myotonic dystrophy (DM) is a multisystemic disorder caused by microsatellite expansion mutations in two unrelated genes leading to similar, yet distinct, diseases. DM disease presentation is highly variable and distinguished by differences in age-of-onset and symptom severity. In the most severe form, DM presents with congenital onset and profound developmental defects. At the molecular level, DM pathogenesis is characterized by a toxic RNA gain-of-function mechanism that involves the transcription of noncoding microsatellite expansions...
March 25, 2018: Comprehensive Physiology
https://www.readbyqxmd.com/read/29686124/author-response-high-frequency-of-gastrointestinal-manifestations-in-myotonic-dystrophy-type-1-and-type-2
#16
James E Hilbert, Charles A Thornton, Richard T Moxley
No abstract text is available yet for this article.
April 24, 2018: Neurology
https://www.readbyqxmd.com/read/29686123/reader-response-high-frequency-of-gastrointestinal-manifestations-in-myotonic-dystrophy-type-1-and-type-2
#17
Gabriella Silvestri, Daria Maccora, Alessia Perna, Salvatore Rossi, Venanzio Valenza
No abstract text is available yet for this article.
April 24, 2018: Neurology
https://www.readbyqxmd.com/read/29686122/editors-note-high-frequency-of-gastrointestinal-manifestations-in-myotonic-dystrophy-type-1-and-type-2
#18
Chafic Karam, Steven Galetta
No abstract text is available yet for this article.
April 24, 2018: Neurology
https://www.readbyqxmd.com/read/29677349/repeat-associated-non-atg-ran-translation-in-fuchs-endothelial-corneal-dystrophy
#19
Elisabetta Soragni, Lina Petrosyan, Tommy A Rinkoski, Eric D Wieben, Keith H Baratz, Michael P Fautsch, Joel M Gottesfeld
Purpose: The strongest genetic association with Fuchs' endothelial corneal dystrophy (FECD) is the presence of an intronic (CTG·CAG)n trinucleotide repeat (TNR) expansion in the transcription factor 4 (TCF4) gene. Repeat-associated non-ATG (RAN) translation, an unconventional protein translation mechanism that does not require an initiating ATG, has been described in many TNR expansion diseases, including myotonic dystrophy type 1 (DM1). Given the similarities between DM1 and FECD, we wished to determine whether RAN translation occurs in FECD...
April 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29664219/unusual-association-of-a-unique-cag-interruption-in-5-of-dm1-ctg-repeats-with-intergenerational-contractions-and-low-somatic-mosaicism
#20
Tome Stéphanie, Dandelot Elodie, Dogan Céline, Bertrand Alexis, Genevieve David, Pereon Yann, Simon Marie, Bonnefont Jean-Paul, Bassez Guillaume, Gourdon Geneviève
Myotonic dystrophy type 1 (DM1) is a dominant multisystemic disorder associated with high variability of symptoms and anticipation. DM1 is caused by an unstable CTG repeat expansion that usually increases in successive generations and tissues. DM1 family pedigrees have shown that ∼90% and 10% of transmissions result in expansions and contractions of the CTG repeat, respectively. To date, the mechanisms of CTG repeat contraction remain poorly documented in DM1. In this report, we identified two new DM1 families with apparent contractions and no worsening of DM1 symptoms in two and three successive maternal transmissions...
April 17, 2018: Human Mutation
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