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https://www.readbyqxmd.com/read/29351004/duchenne-muscular-dystrophy-dmd-an-updated-review-of-common-available-therapies
#1
Arash Salmaninejad, Saeed Farajzadeh Valilou, Hadi Bayat, Nader Ebadi, Abdolreza Daraei, Meysam Yousefi, Abolfazl Nesaei, Majid Mojarrad
Duchenne muscular dystrophy (DMD) is a lethal progressive pediatric muscle disorder and genetically inherited as an X-linked disease that caused by mutations in the dystrophin gene. DMD leads to progressive muscle weakness, degeneration, and wasting; finally, follows with the premature demise in affected individual's due to respiratory and/or cardiac failure typically by age of 30. For decades, scientists tried massively to find an effective therapy method, but there is no absolute cure currently for patients with DMD, nevertheless, recent advanced progressions on the treatment of DMD will be hopeful in the future...
January 19, 2018: International Journal of Neuroscience
https://www.readbyqxmd.com/read/29350766/untangling-the-complexity-of-limb-girdle-muscular-dystrophies
#2
REVIEW
Teerin Liewluck, Margherita Milone
Limb-girdle muscular dystrophies (LGMD) are a group of genetically heterogeneous, autosomal inherited muscular dystrophies with childhood-to-adult onset, manifesting with hip and shoulder girdle muscle weakness. When the term LGMD was first conceptualized in 1954, it was thought to be a single entity. Currently, there are 8 autosomal dominant (LGMD1A-1H) and 26 autosomal recessive (LGMD2A-2Z) variants according to the Online Mendelian Inheritance in Man database. In addition, there are other genetically-identified muscular dystrophies with a LGMD phenotype not yet classified as LGMD...
January 19, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29349732/membranous-glomerulonephritis-with-an-lmna-mutation
#3
Kumi Fujita, Kazuhiro Hatta
We had encountered the case of membranous glomerulonephritis (MGN) with dilated cardiomyopathy due to LMNA gene mutation. LMNA mutation was known as a cause of 'laminopathy' such as dilated cardiomyopathy, muscular dystrophy, neuropathy and so on. LMNA gene might be a candidate of genetic basis in cryptogenic MGN.
January 18, 2018: CEN Case Reports
https://www.readbyqxmd.com/read/29345014/human-induced-pluripotent-stem-cell-models-of-retinitis-pigmentosa
#4
REVIEW
Ana Artero Castro, Dunja Lukovic, Pavla Jendelova, Slaven Erceg
Hereditary retinal dystrophies, specifically retinitis pigmentosa (RP) are clinically and genetically heterogeneous diseases affecting primarily retinal cells and retinal pigment epithelial (RPE) cells with blindness as a final outcome. Understanding the pathogenicity behind these diseases has been largely precluded by the unavailability of affected tissue from patients, large genetic heterogeneity and animal models that do not faithfully represent some human diseases. A landmark discovery of human induced pluripotent stem cells (hiPSC) permitted the derivation of patient-specific cells...
January 18, 2018: Stem Cells
https://www.readbyqxmd.com/read/29343467/hearing-impairment-in-patients-with-myotonic-dystrophy-type-2
#5
Judith van Vliet, Alide A Tieleman, Baziel G M van Engelen, Guillaume Bassez, Laurent Servais, Anthony Béhin, Tanya Stojkovic, Jan Meulstee, Joost A M Engel, George Lamas, Bruno Eymard, Wim I M Verhagen, Elisabeth Mamelle
OBJECTIVE: To systematically assess auditory characteristics of a large cohort of patients with genetically confirmed myotonic dystrophy type 2 (DM2). METHODS: Patients with DM2 were included prospectively in an international cross-sectional study. A structured interview about hearing symptoms was held. Thereafter, standardized otologic examination, pure tone audiometry (PTA; 0.25, 0.5, 1, 2, 4, and 8 kHz), speech audiometry, tympanometry, acoustic middle ear muscle reflexes, and brainstem auditory evoked potentials (BAEP) were performed...
January 17, 2018: Neurology
https://www.readbyqxmd.com/read/29336709/novel-mutation-of-the-dystrophin-gene-in-a-child-with-duchenne-muscular-dystrophy
#6
Jingjing Jiang, Tiejia Jiang, Jialu Xu, Jue Shen, Feng Gao
INTRODUCTION: Duchenne muscular dystrophy (DMD) is an X-linked autosomal recessive genetic disorder caused by mutations in DMD gene. Approximately 70% of the mutations are caused by deletions or duplications of DMD exons, while the remaining were minor mutations. CASE REPORT: We present a 5-year-old boy with typical clinical features of DMD. A novel mutation was identified as a c.9358_9359insA of DMD gene by next-generation sequencing. This mutation which was origined from mother, generated a frameshift mutation and resulted in abnormal synthesis of protein polypeptide chains...
January 16, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29328504/myotonic-dystrophy-patient-preferences-in-patient-reported-outcome-measures
#7
Chad Heatwole, Nicholas Johnson, Jeanne Dekdebrun, Nuran Dilek, Kate Eichinger, James Hilbert, Elizabeth Luebbe, William Martens, Michael P McDermott, Charles Thornton, Richard Moxley
INTRODUCTION: In preparation for clinical trials in myotonic dystrophy type-1 (DM1), it is important to develop and identify patient-reported outcome measures with good measurement properties. METHODS: Fifty-two DM1 patients enrolled in two clinical studies completed the Myotonic Dystrophy Health Index (MDHI), SF-36v2, Individualized Neuromuscular Quality of Life questionnaire (NQoL), and a questionnaire comparing the relevance, usability, overall preference, and perceived responsiveness of each measure...
January 12, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29326851/recent-advancements-in-gene-therapy-for-hereditary-retinal-dystrophies
#8
REVIEW
Ayşe Öner
Hereditary retinal dystrophies (HRDs) are degenerative diseases of the retina which have marked clinical and genetic heterogeneity. Common presentations among these disorders include night or colour blindness, tunnel vision, and subsequent progression to complete blindness. The known causative disease genes have a variety of developmental and functional roles, with mutations in more than 120 genes shown to be responsible for the phenotypes. In addition, mutations within the same gene have been shown to cause different disease phenotypes, even amongst affected individuals within the same family, highlighting further levels of complexity...
December 2017: Turkish Journal of Ophthalmology
https://www.readbyqxmd.com/read/29325606/repeat-expansion-diseases
#9
Henry Paulson
More than 40 diseases, most of which primarily affect the nervous system, are caused by expansions of simple sequence repeats dispersed throughout the human genome. Expanded trinucleotide repeat diseases were discovered first and remain the most frequent. More recently tetra-, penta-, hexa-, and even dodeca-nucleotide repeat expansions have been identified as the cause of human disease, including some of the most common genetic disorders seen by neurologists. Repeat expansion diseases include both causes of myotonic dystrophy (DM1 and DM2), the most common genetic cause of amyotrophic lateral sclerosis/frontotemporal dementia (C9ORF72), Huntington disease, and eight other polyglutamine disorders, including the most common forms of dominantly inherited ataxia, the most common recessive ataxia (Friedreich ataxia), and the most common heritable mental retardation (fragile X syndrome)...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29322964/natural-history-of-a-cohort-of-duchenne-muscular-dystrophy-children-seen-between-1998-and-2014-an-observational-study-from-south-india
#10
Ravinder-Jeet Singh, Mahadevappa Manjunath, Veeramani Preethish-Kumar, Kiran Polavarapu, Seena Vengalil, Priya T Thomas, Kandavel Thennarasu, Narayanappa Gayathri, Deepha Sekar, Saraswati Nashi, Atchayaram Nalini
BACKGROUND: Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy. There are no large studies describing its natural course from India. MATERIALS AND METHODS: Immunohistochemically/genetically confirmed DMD patients diagnosed between 1998 and 2014 were ambispectively included. The main aim was to study the natural course of motor milestones, i.e., age at onset of wheelchair status, bedbound state, and age at death, which were considered as primary outcome measures...
January 2018: Neurology India
https://www.readbyqxmd.com/read/29317080/effective-regeneration-of-dystrophic-muscle-using-autologous-ipsc-derived-progenitors-with-crispr-cas9-mediated-precise-correction
#11
Mackenzie Hagan, Muhammad Ashraf, Il-Man Kim, Neal L Weintraub, Yaoliang Tang
Duchenne muscular dystrophy (DMD) is a lethal muscle wasting disease caused by a lack of dystrophin, which eventually leads to apoptosis of muscle cells and impaired muscle contractility. Clustered Regularly Interspaced Short Palindromic Repeats/CRISPR associated protein 9 (CRISPR/Cas9) gene editing of induced pluripotent stem cells (IPSC) offers the potential to correct the DMD gene defect and create healthy IPSC for autologous cell transplantation without causing immune activation. However, IPSC carry a risk of tumor formation, which can potentially be mitigated by differentiation of IPSC into myogenic progenitor cells (MPC)...
January 2018: Medical Hypotheses
https://www.readbyqxmd.com/read/29312873/left-ventricular-deformation-abnormalities-in-a-patient-with-calpainopathy-a-case-from-the-three-dimensional-speckle-tracking-echocardiographic-magyar-path-study
#12
Attila Nemes, Lívia Dézsi, Péter Domsik, Anita Kalapos, Tamás Forster, László Vécsei
Calpainopathy or limb-girdle muscular dystrophy type 2A (LGMD2A) is the most common type of autosomal recessive limb-girdle muscular dystrophies. The disease is caused by mutations in the CAPN3 gene encoding calpain, a protein involved in muscle membrane remodeling and repair. This paper gives an overview of the genetic background, clinical course, and diagnosis of the disease, and presents the first case of calpainopathy in which cardiac deformation mechanics was investigated. Three-dimensional speckle-tracking echocardiography (3DSTE) demonstrated reduced left ventricular (LV) strains and increased LV apical rotation and twist, suggestive of asymptomatic subclinical LV dysfunction...
December 2017: Quantitative Imaging in Medicine and Surgery
https://www.readbyqxmd.com/read/29306591/the-frequency-and-risk-factors-for-ischemic-stroke-in-myotonic-dystrophy-type-1-patients
#13
Kosuke Yoshida, Yoko Aburakawa, Yasuhiro Suzuki, Kenji Kuroda, Takashi Kimura
INTRODUCTION: Patients with myotonic dystrophy type 1 have several cardiac abnormalities, especially myocardial conduction disorders. Few studies have investigated cerebral infarction. We investigated the frequency of both symptomatic and asymptomatic ischemic strokes in patients with myotonic dystrophy type 1. METHODS: Patients who were diagnosed with myotonic dystrophy type 1 using genetic testing or clinical examinations at Asahikawa Medical Center were included...
January 3, 2018: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/29305136/low-level-dystrophin-expression-attenuating-the-dystrophinopathy-phenotype
#14
Megan A Waldrop, Felecia Gumienny, Saleh El Husayni, Diane E Frank, Robert B Weiss, Kevin M Flanigan
The reading frame rule suggests that Duchenne muscular dystrophy (DMD) results from DMD mutations causing an out-of-frame transcript, whereas the milder Becker muscular dystrophy results from mutations causing an in-frame transcript. However, predicted nonsense mutations may instead result in altered splicing and an in-frame transcript. Here we report a 10-year-old boy with a predicted nonsense mutation in exon 42 who had a 6-minute walk time of 157% of that of age matched DMD controls, characterized as intermediate muscular dystrophy...
November 23, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29304097/left-bundle-branch-block-in-duchenne-muscular-dystrophy-prevalence-genetic-relationship-and-prognosis
#15
Abdallah Fayssoil, Rabah Ben Yaou, Adam Ogna, Cendrine Chaffaut, France Leturcq, Olivier Nardi, Karim Wahbi, Denis Duboc, Frederic Lofaso, Helene Prigent, Bernard Clair, Pascal Crenn, Guillaume Nicolas, Pascal Laforet, Anthony Behin, Sylvie Chevret, David Orlikowski, Djillali Annane
BACKGROUND: Duchenne muscular dystrophy (DMD) is an inherited myogenic disorder due to mutations in the dystrophin gene on chromosome Xp21.1. We designed this study to determine the prevalence of left bundle branch block (LBBB), whether there is a relationship between LBBB and genetic pattern, and to assess predictive factors for acute cardiac events and mortality in adult DMD patients. METHODS: We reviewed the charts of DMD followed at the Home Mechanical Ventilation Unit of the Raymond Poincare University Hospital...
2018: PloS One
https://www.readbyqxmd.com/read/29296092/evaluation-of-amplification-refractory-mutation-system-arms-technique-for-quick-and-accurate-prenatal-gene-diagnosis-of-chm-variant-in-choroideremia
#16
Lisha Yang, Iqra Ijaz, Jingliang Cheng, Chunli Wei, Xiaojun Tan, Md Asaduzzaman Khan, Xiaodong Fu, Junjiang Fu
Choroideremia is a rare X-linked recessive inherited disorder that causes chorioretinal dystrophy leading to visual impairment in its early stages which finally causes total blindness in the affected person. It is caused due to mutations in the CHM gene. In this study, we have recruited a pedigree with choroideremia and detected a nonsense variant (c.C799T:p.R267X) in CHM of the proband (I:1). Different primer sets for amplification refractory mutation system (ARMS) were designed and PCR conditions were optimized...
2018: Application of Clinical Genetics
https://www.readbyqxmd.com/read/29278896/long-term-pulmonary-function-in-duchenne-muscular-dystrophy-comparison-of-eteplirsen-treated-patients-to-natural-history
#17
T Bernard Kinane, Oscar H Mayer, Petra W Duda, Linda P Lowes, Stephanie L Moody, Jerry R Mendell
BACKGROUND: Duchenne muscular dystrophy (DMD) is a rare, degenerative, X-linked genetic disease that results in progressive muscle loss and premature death, most commonly from respiratory or cardiac failure. DMD is primarily caused by whole exon deletions, resulting in a shift of the dystrophin mRNA reading frame that prevents production of functional dystrophin protein. Eteplirsen, a phosphorodiamidate morpholino oligomer (PMO), is designed to skip exon 51, restore the reading frame, and induce production of internally shortened dystrophin in patients with mutations amenable to such treatment...
December 20, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29274549/lymphoblastoids-cell-lines-derived-ipsc-line-from-a-26-year-old-myotonic-dystrophy-type-1-patient-carrying-ctg-200-expansion-in-the-dmpk-gene-chuqi001-a
#18
Laurie Martineau, Véronique Racine, Siham Ait Benichou, Jack Puymirat
Human immortalized Epstein-Barr virus (EBV) lymphoblastoids cells line (LCLs) from a 26-year- old male affected by an adult form of myotonic dystrophy type 1 (DM1) disease and carrying 200 CTG repeats mutation in the blood was used to generate induced pluripotent stem cells (iPSCs) using the Sendai virus expressing KLF4, OCT4, SOX2 and C-MYC. The resulting iPSCs were EBV free, expressed the pluripotency markers, could be differentiated into the three germ layers in vitro, had a normal karyotype, and retained the genetic DM1 mutation...
December 16, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29260097/cdh3-gene-related-hypotrichosis-and-juvenile-macular-dystrophy-a-case-with-a-novel-mutation
#19
Omer Karti, Saygin Abali, Ziya Ayhan, Eylem Gokmeydan, Serhad Nalcaci, Aylin Yaman, Ali Osman Saatci
Purpose: CDH3-related hypotrichosis with juvenile macular dystrophy (HJMD) is an autosomal-recessive entity characterized by congenital sparse scalp hair and macular dystrophy, leading to severe central visual loss. We report a family with HJMD caused by a novel CDH3 gene mutation and review the mutation spectrum in HJMD. A detailed phenotypic assessment for patients whose molecular results were reported previously is also summarized. Observations: We present a 13-year-old Turkish girl who experienced gradual bilateral visual deterioration with marked hair loss...
September 2017: American Journal of Ophthalmology Case Reports
https://www.readbyqxmd.com/read/29249377/history-and-current-difficulties-in-classifying-inherited-myopathies-and-muscular-dystrophies
#20
Stéphane Mathis, Meriem Tazir, Laurent Magy, Fanny Duval, Gwendal Le Masson, Mathilde Duchesne, Philippe Couratier, Karima Ghorab, Guilhem Solé, Idoia Lacoste, Cyril Goizet, Jean-Michel Vallat
The wide spectrum of hereditary muscular disorders leads to unavoidable difficulties in their classification, even for specialists. For this reason, new proposals are required that would ultimately replace our current rather complex classifications by a simpler structure. Our proposal will be limited to dystrophic and non-dystrophic myopathies (excluding metabolic disorders, mitochondriopathies, and channelopathies) for which similar proposals would also be relevant. Various genes (encoding structural proteins associated with the sarcolemma, nuclear membrane proteins, and proteins involved in myofiber metabolism have now been sequenced and mutations ascribed to specific forms of inherited muscular disorders...
January 15, 2018: Journal of the Neurological Sciences
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