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Congenital myotonic dystrophy

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https://www.readbyqxmd.com/read/29433794/clinically-variable-nemaline-myopathy-in-a-three-generation-family-caused-by-mutation-of-the-skeletal-muscle-alpha-actin-gene
#1
Vilma-Lotta Lehtokari, Maria Gardberg, Katarina Pelin, Carina Wallgren-Pettersson
We present here a Finnish nemaline myopathy family with a dominant mutation in the skeletal muscle α-actin gene, p.(Glu85Lys), segregating in three generations. The index patient, a 5-year-old boy, had the typical form of nemaline myopathy with congenital muscle weakness and motor milestones delayed but reached, while his mother never had sought medical attention for her very mild muscle weakness, and his maternal grandmother had been misdiagnosed as having myotonic dystrophy. This illustrates the clinical variability in nemaline myopathy...
December 25, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29420722/craniofacial-morphology-and-growth-in-young-patients-with-congenital-or-childhood-onset-myotonic-dystrophy
#2
Clara Fontinha, Monica Engvall, Lotta Sjögreen, Stavros Kiliaridis
Background/objectives: This study investigated the craniofacial morphology of young individuals with congenital or childhood onset myotonic dystrophy type 1 (DM1) compared to healthy subjects. The study also followed growth changes in their facial morphology over a 5-year period. Materials/methods: Lateral cephalograms of the 26 subjects (young patients with DM1 from west and south Sweden) were taken at baseline and after a 5-year period. These radiographs were compared with normal standards based on healthy individuals from the Michigan Growth Study, according to their age and sex, using paired t-tests (P < 0...
February 6, 2018: European Journal of Orthodontics
https://www.readbyqxmd.com/read/29398295/genotype-and-other-determinants-of-respiratory-function-in-myotonic-dystrophy-type-1
#3
Ghilas Boussaïd, Karim Wahbi, Pascal Laforet, Bruno Eymard, Tanya Stojkovic, Anthony Behin, Annane Djillali, David Orlikowski, Hélène Prigent, Frédéric Lofaso
New treatments are being developed for myotonic dystrophy type 1 (DM1). To evaluate their efficacy, knowledge about the natural history of respiratory dysfunction and its relationship with the genotype will be crucial. Also needed is information on factors predicting the time-course of respiratory function in DM1. Using data from 283 patients, we built a segmented linear mixed-effects regression model to assess respiratory function changes over time. Respiratory variables associated with the CTG repeat number were identified by multivariate linear regression analysis...
December 26, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29383602/recurrence-of-gastric-masses-in-a-neonate-with-congenital-myotonic-dystrophy
#4
Pooja Shivananda Siddhi, Imogen Storey
No abstract text is available yet for this article.
January 31, 2018: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29361396/childhood-onset-form-of-myotonic-dystrophy-type-1-and-autism-spectrum-disorder-is-there-comorbidity
#5
N Angeard, E Huerta, A Jacquette, D Cohen, J Xavier, M Gargiulo, L Servais, B Eymard, D Héron
Myotonic dystrophy type 1 (DM1) is a multisystemic disorder with neuromuscular symptoms and brain dysfunctions. Depending on the phenotypic expression, the degree of cognitive impairment remains heterogeneous, ranging from moderate to severe intellectual disability in the congenital form, to executive, visuospatial and personality dysfunction in the adult-onset form. Studies exploring the cognitive or psychiatric impairments in the childhood form of DM1, characterized by an age of onset between one and ten years, uneventful pre and post natal history and normal development the first year of life, are scarce and show conflicting results in regard to a comorbid diagnosis of Autism Spectrum Disorder (ASD)...
March 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29327796/speech-characteristics-in-the-congenital-and-childhood-onset-forms-of-myotonic-dystrophy-type-1
#6
Lotta Sjögreen, Åsa Mårtensson, Anne-Berit Ekström
BACKGROUND: Myotonic dystrophy type 1 (DM1) is a slowly progressive multi-systemic disease with an autosomal-dominant inheritance caused by a mutation on chromosome 19 (19q13.3). AIMS: To explore speech characteristics in a group of individuals with the congenital and childhood-onset forms of DM1 in terms of intelligibility, speech-sound production, nasality and compensatory articulation. A further aim was to analyse whether speech characteristics were correlated to subforms of DM1 and if speech outcome could be related to muscle strength...
January 12, 2018: International Journal of Language & Communication Disorders
https://www.readbyqxmd.com/read/29203592/correction-of-gsk3%C3%AE-at-young-age-prevents-muscle-pathology-in-mice-with-myotonic-dystrophy-type-1
#7
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]...
January 5, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29196274/neuromuscular-diseases-diagnosis-and-management
#8
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/29113982/nanopore-sequencing-of-complex-genomic-rearrangements-in-yeast-reveals-mechanisms-of-repeat-mediated-double-strand-break-repair
#9
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/29091763/aberrant-myokine-signaling-in-congenital-myotonic-dystrophy
#10
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/29072789/abnormally-invasive-placentation-in-a-woman-with-congenital-myotonic-dystrophy
#11
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
https://www.readbyqxmd.com/read/28988213/management-of-pneumatosis-intestinalis-in-children-over-the-age-of-6-months-a-conservative-approach
#12
Leel Nellihela, Mohamed Mutalib, David Thompson, Kammermeier Jochen, Manasvi Upadhyaya
BACKGROUND: Pneumatosis intestinalis (PI) is an uncommon and poorly understood condition. Although it can be an incidental finding in asymptomatic individuals, it can also be secondary to life-threatening bowel ischaemia and sepsis. In premature infants, it is a pathognomonic sign of necrotising enterocolitis. There is no consensus regarding management and long-term outcome of children with PI. AIM: Review of our experience of PI in children beyond the early infantile period...
October 7, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28914735/palliative-care-in-neuromuscular-diseases
#13
Marianne de Visser, David J Oliver
PURPOSE OF REVIEW: Palliative care is an approach that improves the quality of life of patients and their families facing the problem associated with life-threatening illness. Neuromuscular disorders (NMDs) are characterized by progressive muscle weakness, leading to pronounced and incapacitating physical disabilities. Most NMDs are not amenable to curative treatment and would thus qualify for palliative care. Amyotrophic lateral sclerosis is a relentlessly progressive disease, which leads to death about 2 years after onset due to respiratory muscle weakness...
December 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28879884/global-muscular-dystrophy-research-a-25-year-bibliometric-perspective
#14
REVIEW
Shri Ram
Muscular dystrophy is a genetic disorder leading to progressive weakness of muscles caused due to dysfunction in or lack of protein in muscle cells. The prevalence of muscular dystrophy has been observed globally and is becoming a critical area of study for better health services. The purpose of the study is to analyze the research strength of muscular dystrophy using bibliographic literature. A quantitative literature analysis was carried out on muscular dystrophy from 1991 to 2015 for assessing the global research trends...
September 2017: Neurology India
https://www.readbyqxmd.com/read/28833235/abstracts
#15
M McIntyre, M Dixon, E M Pucillo, D DiBella, R Crockett, M Hung, J Bounsanga, R J Butterfield, C Campbell, N E Johnson
INTRODUCTION: Children with congenital myotonic dystrophy (CDM) have communication and motor delays. It's not well studied how communication delays affect performance on functional measures such as four-stair climb (4SC), rise from floor (RFF) and 10-meter run (10MR). METHODS: 49 participants with CDM were recruited in to three age-based cohorts. Motor performance was assessed in the two oldest cohorts using the 4SC, RFF and 10MR. Each participant's Age Equivalent Receptive Communication was calculated using the Vineland Adaptive Behavior Scales-II...
August 22, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28791262/clinical-characteristics-of-pregnancies-complicated-by-congenital-myotonic-dystrophy
#16
Cheonga Yee, Suk-Joo Choi, Soo-Young Oh, Chang-Seok Ki, Cheong-Rae Roh, Jong-Hwa Kim
OBJECTIVE: Although the conventional prevalence of myotonic dystrophy is 1:8,000, the prevalence in Korean population was recently reported as 1:1,245. With higher domestic result than expected, we aimed to investigate the clinical characteristics of pregnancies complicated by congenital myotonic dystrophy in our institution. METHODS: We have reviewed 11 paired cases of neonates diagnosed with congenital myotonic dystrophy and their mothers between July 2004 and May 2014, with clinical features including maternal history of infertility, prenatal ultrasonographic findings, and neonatal outcomes...
July 2017: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/28717044/congenital-myotonic-dystrophy-an-rna-mediated-disease-across-a-developmental-continuum
#17
COMMENT
Sujatha Jagannathan, Robert K Bradley
Thomas and colleagues (pp. 1122-1133) demonstrate severe dysregulation of developmentally regulated alternative splicing and polyadenylation in congenital myotonic dystrophy (CDM). In doing so, they also highlight the importance of these post-transcriptional processes during normal fetal muscle development. Finally, they generate and characterize a mouse model of CDM that lacks all three Muscleblind-like proteins.
June 1, 2017: Genes & Development
https://www.readbyqxmd.com/read/28698297/disrupted-prenatal-rna-processing-and-myogenesis-in-congenital-myotonic-dystrophy
#18
James D Thomas, Łukasz J Sznajder, Olgert Bardhi, Faaiq N Aslam, Zacharias P Anastasiadis, Marina M Scotti, Ichizo Nishino, Masayuki Nakamori, Eric T Wang, Maurice S Swanson
Myotonic dystrophy type 1 (DM1) is a CTG microsatellite expansion (CTGexp ) disorder caused by expression of CUGexp RNAs. These mutant RNAs alter the activities of RNA processing factors, including MBNL proteins, leading to re-expression of fetal isoforms in adult tissues and DM1 pathology. While this pathogenesis model accounts for adult-onset disease, the molecular basis of congenital DM (CDM) is unknown. Here, we test the hypothesis that disruption of developmentally regulated RNA alternative processing pathways contributes to CDM disease...
June 1, 2017: Genes & Development
https://www.readbyqxmd.com/read/28673557/long-term-follow-up-of-motor-function-and-muscle-strength-in-the-congenital-and-childhood-forms-of-myotonic-dystrophy-type-1
#19
Anna-Karin Kroksmark, Marie-Louise Stridh, Anne-Berit Ekström
The aims of this study were to explore how motor function and muscle strength change over time in the congenital and childhood forms of myotonic dystrophy type 1, further to investigate whether sex, age, disease severity or size of the mutation could explain these changes. Motor function and isometric muscle strength were evaluated at three occasions during 1999-2013 in 57 patients aged 0.7-28.9 years. Median time between first and last assessment was 11.5 years ranging from 9.6 to 13.3 years. The study shows that motor function improves during the first decade, is most pronounced during the first six years, reaches a plateau during adolescence and starts to deteriorate in the beginning of the second decade...
September 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28548834/subtly-modulating-glycogen-synthase-kinase-3-%C3%AE-allosteric-inhibitor-development-and-their-potential-for-the-treatment-of-chronic-diseases
#20
Valle Palomo, Daniel I Perez, Carlos Roca, Cara Anderson, Natalia Rodríguez-Muela, Concepción Perez, Jose A Morales-Garcia, Julio A Reyes, Nuria E Campillo, Ana M Perez-Castillo, Lee L Rubin, Lubov Timchenko, Carmen Gil, Ana Martinez
Glycogen synthase kinase 3 β (GSK-3β) is a central target in several unmet diseases. To increase the specificity of GSK-3β inhibitors in chronic treatments, we developed small molecules allowing subtle modulation of GSK-3β activity. Design synthesis, structure-activity relationships, and binding mode of quinoline-3-carbohydrazide derivatives as allosteric modulators of GSK-3β are presented here. Furthermore, we show how allosteric binders may overcome the β-catenin side effects associated with strong GSK-3β inhibition...
June 22, 2017: Journal of Medicinal Chemistry
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