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Myotonic dystrophy

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https://www.readbyqxmd.com/read/29219952/early-onset-posterior-subscapular-cataract-in-a-series-of-myotonic-dystrophy-type-2-patients
#1
C Papadopoulos, K Kekou, S Xirou, S Kitsiou-Tzeli, E Kararizou, G K Papadimas
PurposeEarly onset posterior subscapular cataract (<50 years of age) is a characteristic feature of myotonic dystrophy type 2 (DM2). Nevertheless, despite being operated at a young age, many patients remain undiagnosed for years. The purpose of this study was to assess the prevalence of early onset posterior subscapular cataract as a presenting symptom of the disease in a cohort of patients with DM2.Patients and methodsWe retrospectively reviewed medical records of DM2 patients followed in our institution for the presence of early onset posterior subscapular cataract, of any secondary causes of cataract, of the age of onset of muscle weakness and of final disease diagnosis...
December 8, 2017: Eye
https://www.readbyqxmd.com/read/29203592/correction-of-gsk3%C3%AE-at-young-age-prevents-muscle-pathology-in-mice-with-myotonic-dystrophy-type-1
#2
Christina Wei, Lauren Stock, Leila Valanejad, Zachary A Zalewski, Rebekah Karns, Jack Puymirat, David Nelson, David Witte, Jim Woodgett, Nikolai A Timchenko, Lubov Timchenko
Myotonic dystrophy type 1 (DM1) is a progressive neuromuscular disease caused by expanded CUG repeats, which misregulate RNA metabolism through several RNA-binding proteins, including CUG-binding protein/CUGBP1 elav-like factor 1 (CUGBP1/CELF1) and muscleblind 1 protein. Mutant CUG repeats elevate CUGBP1 and alter CUGBP1 activity via a glycogen synthase kinase 3β (GSK3β)-cyclin D3-cyclin D-dependent kinase 4 (CDK4) signaling pathway. Inhibition of GSK3β corrects abnormal activity of CUGBP1 in DM1 mice [human skeletal actin mRNA, containing long repeats (HSALR ) model]...
December 4, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29196274/neuromuscular-diseases-diagnosis-and-management
#3
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...
November 28, 2017: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/29193182/cognitive-impairment-and-quality-of-life-in-patients-with-myotonic-dystrophy-type-1
#4
Haruo Fujino, Honoka Shingaki, Shugo Suwazono, Yukihiko Ueda, Chizu Wada, Takahiro Nakayama, Masanori P Takahashi, Osamu Imura, Tsuyoshi Matsumura
INTRODUCTION: We aimed to clarify whether specific cognitive abilities are impaired in patients with myotonic dystrophy type 1 (DM1), as well as to investigate the relationships among quality of life (QoL), cognitive function, and psychological factors. METHODS: Sixty patients with DM1 were evaluated on cognitive functioning (abstract reasoning, attention/working memory, executive function, processing speed, and visuo-constructive ability), apathy, depression, excessive daytime sleepiness, fatigue, and QoL...
November 28, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/29184538/circulating-irisin-is-reduced-in-male-patients-with-type-1-and-type-2-myotonic-dystrophies
#5
Elena Dozio, Elena Passeri, Rosanna Cardani, Stefano Benedini, Carmen Aresta, Rea Valaperta, Massimiliano Corsi Romanelli, Giovanni Meola, Valeria Sansone, Sabrina Corbetta
Context: Myotonic dystrophies (DM) are dominantly inherited muscle disorders characterized by myotonia, muscle weakness, and wasting. The reasons for sarcopenia in DMs are uncleared and multiple factors are involved. Irisin, a positive hormone regulator of muscle growth and bone, may play a role. Objectives: To investigate (1) circulating irisin in a series of DM1 and DM2 male patients compared with healthy controls and (2) the relationships between irisin and anthropometric, metabolic and hormonal parameters...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29177794/imaging-of-the-thymus-in-myotonic-dystrophy-type-1
#6
Andrea Mignarri, Francesco Gentili, Francesco Masia, Angelo Genua, Silvia Cenciarelli, Paola Brunori, Maria Antonietta Mazzei, Alessandro Malandrini, Antonio Federico, Francesco Giuseppe Mazzei, Maria Teresa Dotti
The occurrence of thymoma in myotonic dystrophy type 1 (DM1) has been occasionally reported, and an increased risk of tumors has been observed. We performed imaging of the thymus in 22 patients carrying DMPK expansion. Clinical examination and routine instrumental exams were performed at the same time. We observed no thymic abnormalities in 13 subjects, thymic hyperplasia in eight patients, and an invasive thymoma in one case. Subjects with thymic abnormalities did not show peculiarities as regards clinical and electrophysiological features...
November 25, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/29162624/mrck%C3%AE-is-activated-by-caspase-cleavage-to-assemble-an-apical-actin-ring-for-epithelial-cell-extrusion
#7
Paolo Armando Gagliardi, Desiana Somale, Alberto Puliafito, Giulia Chiaverina, Laura di Blasio, Michele Oneto, Paolo Bianchini, Federico Bussolino, Luca Primo
Extrusion of apoptotic cells from epithelial tissues requires orchestrated morphological rearrangements of the apoptotic cell and its neighbors. However, the connections between the apoptotic cascade and events leading to extrusion are not fully understood. Here, we characterize an apoptotic extrusion apical actin ring (EAAR) that is assembled within the apoptotic cell and drives epithelial extrusion. Caspase-mediated cleavage of myotonic dystrophy kinase-related CDC42-binding kinase-α (MRCKα) triggers a signaling pathway that leads to the assembly of EAAR that pulls actin bundles, resulting in the compaction and removal of the cell body...
November 21, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/29157585/cardiac-autonomic-control-during-sleep-in-patients-with-myotonic-dystrophy-type-1-the-effects-of-comorbid-obstructive-sleep-apnea
#8
Eleonora Tobaldini, Giorgio Colombo, Monica Solbiati, Chiara Cogliati, Lucia Morandi, Alessandro Pincherle, Nicola Montano
OBJECTIVE: Myotonic dystrophy type 1 (DM1) is a hereditary myopathy characterized by an autosomal dominant inheritance with important cardiovascular and autonomic deregulation. DM1 patients have a high prevalence of obstructive sleep apnea (OSA), but the effects of this comorbidity on cardiovascular autonomic control (CAC) are unknown. The present study aimed to investigate CAC during sleep-wake cycle in DM1 patients, taking into account the effects of OSA comorbidity. METHOD: Twenty-three patients with a diagnosis of DM1, and a control group, underwent a complete polysomnographic study (PSG)...
November 2017: Sleep Medicine
https://www.readbyqxmd.com/read/29136408/fuchs-endothelial-and-myotonic-dystrophies-corneal-dystrophy-in-myotonic-patients
#9
Maddalena De Bernardo, Nicola Rosa
No abstract text is available yet for this article.
November 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29121498/cardiac-involvement-in-myotonic-dystrophy-the-role-of-troponins-and-n-terminal-pro-b-type-natriuretic-peptide
#10
Rea Valaperta, Claudia De Siena, Rosanna Cardani, Fortunata Lombardia, Edina Cenko, Benedetta Rampoldi, Barbara Fossati, Elisa Brigonzi, Roberta Rigolini, Paola Gaia, Giovanni Meola, Elena Costa, Raffaele Bugiardini
BACKGROUND AND AIMS: Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are dominant inherited muscular dystrophies with multiple systemic involvement, often producing cardiac injury. This study sought to determine the clinical significance of elevated high sensitivity cardiac troponin T and I (hs-cTnT and hs-cTnI), and N-terminal pro B-type natriuretic peptide (NT-pro-BNP) in this population. METHODS: Sixty DM patients (35 men and 25 women; mean age: 45.1 years, range: 12-73 years) underwent clinical cardiac investigations and measurements of serum hs-cTnT, hs-cTnI, creatine kinase (CK), and NT-proBNP...
October 21, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/29120897/corneal-endothelial-and-myotonic-dystrophy
#11
Maddalena De Bernardo, Nicola Rosa
No abstract text is available yet for this article.
November 8, 2017: Cornea
https://www.readbyqxmd.com/read/29116570/mri-hydrographic-3d-sequences-myotonic-dystrophy-type-1-meets-cadasil
#12
Dimitri Renard, Nicolas Menjot de Champfleur
No abstract text is available yet for this article.
November 7, 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/29114849/risk-of-skin-cancer-among-patients-with-myotonic-dystrophy-type-1-based-on-primary-care-physician-data-from-the-united-kingdom-clinical-practice-research-datalink
#13
Youjin Wang, Ruth M Pfeiffer, Rotana Alsaggaf, Wilhelmine Meeraus, Julia C Gage, Lesley A Anderson, Renée C Bremer, Nikoletta Nikolenko, Hanns Lochmuller, Mark H Greene, Shahinaz M Gadalla
Myotonic dystrophy type 1 (DM1) is an inherited multisystem neuromuscular disorder caused by a CTG trinucleotide repeat expansion in the DMPK gene. Recent evidence documents that DM1 patients have an increased risk of certain cancers, but whether skin cancer risks are elevated is unclear. Using the U.K. Clinical Practice Research Datalink (CPRD), we identified 1,061 DM1 patients and 15,119 DM1-free individuals matched on gender, birth year (±2 years), attending practice, and registration year (±1 year). We calculated the hazard ratios (HRs) and 95% confidence intervals (CIs) for the association of DM1 diagnosis with skin cancer risk using Cox proportional hazards models, for all skin cancers combined and by histological subtype...
November 7, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/29113982/nanopore-sequencing-of-complex-genomic-rearrangements-in-yeast-reveals-mechanisms-of-repeat-mediated-double-strand-break-repair
#14
Ryan J McGinty, Rachel G Rubinstein, Alexander J Neil, Margaret Dominska, Denis Kiktev, Thomas D Petes, Sergei M Mirkin
Improper DNA double-strand break (DSB) repair results in complex genomic rearrangements (CGRs) in many cancers and various congenital disorders in humans. Trinucleotide repeat sequences, such as (GAA)n repeats in Friedreich's ataxia, (CTG)n repeats in myotonic dystrophy, and (CGG)n repeats in fragile X syndrome, are also subject to double-strand breaks within the repetitive tract followed by DNA repair. Mapping the outcomes of CGRs is important for understanding their causes and potential phenotypic effects...
December 2017: Genome Research
https://www.readbyqxmd.com/read/29095898/brain-gray-matter-structural-network-in-myotonic-dystrophy-type-1
#15
Atsuhiko Sugiyama, Daichi Sone, Noriko Sato, Yukio Kimura, Miho Ota, Norihide Maikusa, Tomoko Maekawa, Mikako Enokizono, Madoka Mori-Yoshimura, Yasushi Ohya, Satoshi Kuwabara, Hiroshi Matsuda
This study aimed to investigate abnormalities in structural covariance network constructed from gray matter volume in myotonic dystrophy type 1 (DM1) patients by using graph theoretical analysis for further clarification of the underlying mechanisms of central nervous system involvement. Twenty-eight DM1 patients (4 childhood onset, 10 juvenile onset, 14 adult onset), excluding three cases from 31 consecutive patients who underwent magnetic resonance imaging in a certain period, and 28 age- and sex- matched healthy control subjects were included in this study...
2017: PloS One
https://www.readbyqxmd.com/read/29091763/aberrant-myokine-signaling-in-congenital-myotonic-dystrophy
#16
Masayuki Nakamori, Kohei Hamanaka, James D Thomas, Eric T Wang, Yukiko K Hayashi, Masanori P Takahashi, Maurice S Swanson, Ichizo Nishino, Hideki Mochizuki
Myotonic dystrophy types 1 (DM1) and 2 (DM2) are dominantly inherited neuromuscular disorders caused by a toxic gain of function of expanded CUG and CCUG repeats, respectively. Although both disorders are clinically similar, congenital myotonic dystrophy (CDM), a severe DM form, is found only in DM1. CDM is also characterized by muscle fiber immaturity not observed in adult DM, suggesting specific pathological mechanisms. Here, we revealed upregulation of the interleukin-6 (IL-6) myokine signaling pathway in CDM muscles...
October 31, 2017: Cell Reports
https://www.readbyqxmd.com/read/29088983/what-the-internist-should-know-about-hereditary-muscle-channelopathies
#17
Véronique Bissay, Sophie C H Van Malderen
OBJECTIVES: Non-dystrophic myotonia, periodic paralysis and, to a certain extent, myotonic dystrophies are rare hereditary skeletal muscle channelopathies, charactarized by myotonia or episodic muscle weakness. This review highlights the diagnostic challenges and treatment options. RESULTS: Some of these rare skeletal muscle disorders are associated with a broad range of systemic and nonspecific muscle symptoms. Consequently, patients are often referred to the internist before seeing a neurologist...
October 31, 2017: Acta Clinica Belgica
https://www.readbyqxmd.com/read/29079470/small-molecule-alteration-of-rna-sequence-in-cells-and-animals
#18
Lirui Guan, Yiling Luo, William W Ja, Matthew D Disney
RNA regulation and maintenance are critical for proper cell function. Small molecules that specifically alter RNA sequence would be exceptionally useful as probes of RNA structure and function or as potential therapeutics. Here, we demonstrate a photochemical approach for altering the trinucleotide expanded repeat causative of myotonic muscular dystrophy type 1 (DM1), r(CUG)(exp). The small molecule, 2H-4-Ru, binds to r(CUG)(exp) and converts guanosine residues to 8-oxo-7,8-dihydroguanosine upon photochemical irradiation...
October 18, 2017: Bioorganic & Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/29075942/dna-mismatch-repair-in-trinucleotide-repeat-instability
#19
REVIEW
Jinzhen Guo, Luping Chen, Guo-Min Li
Trinucleotide repeat expansions cause over 30 severe neuromuscular and neurodegenerative disorders, including Huntington's disease, myotonic dystrophy type 1, and fragile X syndrome. Although previous studies have substantially advanced the understanding of the disease biology, many key features remain unknown. DNA mismatch repair (MMR) plays a critical role in genome maintenance by removing DNA mismatches generated during DNA replication. However, MMR components, particularly mismatch recognition protein MutSβ and its interacting factors MutLα and MutLγ, have been implicated in trinucleotide repeat instability...
October 24, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/29072789/abnormally-invasive-placentation-in-a-woman-with-congenital-myotonic-dystrophy
#20
Lise-Marie Dorcier, Frédéric Coatleven, Hugo Madar, Loïc Sentilhes
The present report describes the case of a woman with myotonic dystrophy aged 32 years, with a gravidity of 1, whose spontaneous pregnancy was complicated by vaginal bleeding at 36 weeks. The patient's medical history was unremarkable except for the myotonic dystrophy. Ultrasonography revealed a low-lying posterior placenta. This article is protected by copyright. All rights reserved.
October 26, 2017: International Journal of Gynaecology and Obstetrics
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