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https://www.readbyqxmd.com/read/29155635/case-248-cystic-duodenal-dystrophy-with-groove-pancreatitis
#1
Aruna R Patil, Shrivalli Nandikoor, Govindarajan Mallarajapatna, Swarna Shivakumar
History A 59-year-old man presented to the gastroenterology outpatient department with acute abdominal pain centered in the epigastrium. He had experienced similar episodes of abdominal pain in the past that had been treated with surgery. He reported multiple failed attempts at upper gastrointestinal endoscopy. Laboratory tests were performed at the time of admission and revealed a serum glutamic-oxaloacetic transaminase level of 9 U/L [0.15 μkat/L] (normal range, 5-40 U/L [0.08-0.67 μkat/L]), a serum glutamic-pyruvic transaminase level of 34 U/L [0...
December 2017: Radiology
https://www.readbyqxmd.com/read/29154419/clinical-profiles-and-prognosis-of-acute-heart-failure-in-adult-patients-with-dystrophinopathies-on-home-mechanical-ventilation
#2
Abdallah Fayssoil, Rabah Ben Yaou, Adam Ogna, France Leturcq, Olivier Nardi, Bernard Clair, Karim Wahbi, Frederic Lofaso, Pascal Laforet, Denis Duboc, David Orlikowski, Djillali Annane
AIMS: Duchenne muscular dystrophy (DMD) is characterized by respiratory and heart involvements. In the context of permanently wheelchair bound and on mechanical ventilation (MV) patients, the clinical presentation of acute heart failure (AHF) syndrome may be atypical. We sought to describe clinical and genetic profiles and to determine prognosis of DMD and Becker muscular dystrophy (BMD) patients on home MV (HMV), hospitalized for AHF. METHODS AND RESULTS: We included genetically proven DMD and BMD patients on HMV admitted for AHF...
November 2017: ESC Heart Failure
https://www.readbyqxmd.com/read/29152331/cost-effectiveness-of-massively-parallel-sequencing-for-diagnosis-of-paediatric-muscle-diseases
#3
Deborah Schofield, Khurshid Alam, Lyndal Douglas, Rupendra Shrestha, Daniel G MacArthur, Mark Davis, Nigel G Laing, Nigel F Clarke, Joshua Burns, Sandra T Cooper, Kathryn N North, Sarah A Sandaradura, Gina L O'Grady
Childhood-onset muscle disorders are genetically heterogeneous. Diagnostic workup has traditionally included muscle biopsy, protein-based studies of muscle specimens, and candidate gene sequencing. High throughput or massively parallel sequencing is transforming the approach to diagnosis of rare diseases; however, evidence for cost-effectiveness is lacking. Patients presenting with suspected congenital muscular dystrophy or nemaline myopathy were ascertained over a 15-year period. Patients were investigated using traditional diagnostic approaches...
2017: NPJ Genomic Medicine
https://www.readbyqxmd.com/read/29150834/il-22-neutralizing-autoantibodies-impair-fungal-clearance-in-murine-oropharyngeal-candidiasis-model
#4
Rudolf Bichele, Jaanika Kärner, Kai Truusalu, Imbi Smidt, Reet Mändar, Heather R Conti, Sarah L Gaffen, Pärt Peterson, Martti Laan, Kai Kisand
Protection against mucocutaneous candidiasis depends on the T helper (Th)17 pathway, as gene defects affecting its integrity result in inability to clear Candida albicans infection on body surfaces. Moreover, autoantibodies neutralizing Th17 cytokines have been related to chronic candidiasis in a rare inherited disorder called autoimmune polyendocriopathy candidiasis ectodermal dystrophy (APECED) caused by mutations in autoimmune regulator (AIRE) gene. However, the direct pathogenicity of these autoantibodies has not yet been addressed...
November 17, 2017: European Journal of Immunology
https://www.readbyqxmd.com/read/29149277/cardiomyopathy-in-muscular-dystrophy
#5
Raksha Indorkar, Mohammed Al-Yafi, Simone Romano, Benjamin R Levin, Afshin Farzaneh-Far
No abstract text is available yet for this article.
November 15, 2017: QJM: Monthly Journal of the Association of Physicians
https://www.readbyqxmd.com/read/29148528/why-the-macula
#6
REVIEW
A C Bird, D Bok
The regional susceptibility of the retina to diseases has been well known by clinicians for many years. It is surprising that the implications of these observations have not spawned major research efforts to characterise the structural and functional attributes of the outer retina in different regions of a foveate retina. Without such an effort, the understanding of the disease mechanisms in retinal dystrophies will remain limited and may hamper therapeutic efforts. That outer retinal disease is responsible for over 50% of blind registration in the western world underlines the importance of these considerations...
November 17, 2017: Eye
https://www.readbyqxmd.com/read/29145886/are-mice-good-models-for-human-neuromuscular-disease-comparing-muscle-excursions-in-walking-between-mice-and-humans
#7
Xiao Hu, James P Charles, Turgay Akay, John R Hutchinson, Silvia S Blemker
BACKGROUND: The mouse is one of the most widely used animal models to study neuromuscular diseases and test new therapeutic strategies. However, findings from successful pre-clinical studies using mouse models frequently fail to translate to humans due to various factors. Differences in muscle function between the two species could be crucial but often have been overlooked. The purpose of this study was to evaluate and compare muscle excursions in walking between mice and humans. METHODS: Recently published musculoskeletal models of the mouse hindlimb and human lower limb were used to simulate muscle-tendon dynamics during mouse and human walking, a key daily activity...
November 16, 2017: Skeletal Muscle
https://www.readbyqxmd.com/read/29145830/differences-in-vertebral-morphology-around-the-apical-vertebrae-between-neuromuscular-scoliosis-and-idiopathic-scoliosis-in-skeletally-immature-patients-a-three-dimensional-morphometric-analysis
#8
Takahiro Makino, Yusuke Sakai, Masafumi Kashii, Shota Takenaka, Kazuomi Sugamoto, Hideki Yoshikawa, Takashi Kaito
BACKGROUND: Recent morphological analyses of vertebrae in patients with scoliosis have revealed three-dimensional (3D) deformities in the vertebral bodies. However, it remains controversial whether these deformities are secondary changes caused by asymmetrical vertebral loading or primary changes caused by aberrant asymmetrical vertebral growth. Furthermore, the difference in vertebral morphology between scoliosis with different pathogeneses remains unclear. This study was aimed to investigate the difference in the coronal asymmetry of vertebral bodies between neuromuscular scoliosis (NS) in Duchenne muscular dystrophy (DMD) and idiopathic scoliosis (IS) using in vivo 3D analysis...
November 16, 2017: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/29144056/oropharyngeal-dysphagia-profiles-in-individuals-with-oculopharyngeal-muscular-dystrophy
#9
L C Tabor, E K Plowman, C Romero-Clark, S Youssof
BACKGROUND: Although dysphagia represents a hallmark manifestation of oculopharyngeal muscular dystrophy (OPMD), limited knowledge exists regarding the underlying nature of oropharyngeal swallowing impairments in this patient population. We aimed to delineate global pharyngeal dysphagia profiles in OPMD and identify the prevalence and physiologic associations of impairments in swallowing safety and efficiency. METHODS: Twenty-two individuals with OPMD completed a videofluoroscopic swallowing evaluation...
November 16, 2017: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/29140735/factors-associated-with-visual-acuity-in-patients-with-cystoid-macular-oedema-and-retinitis-pigmentosa
#10
Gerald Liew, Anthony T Moore, Patrick D Bradley, Andrew R Webster, Michel Michaelides
PURPOSE: Retinitis pigmentosa is the most common inherited retinal dystrophy. The factors associated with visual acuity in patients with other retinal diseases are well known, but are poorly understood in patients with retinitis pigmentosa. This knowledge is useful for prognosis and to support secondary endpoints in clinical trials. METHODS: We conducted a cross-sectional study of consecutive patients recruited from the inherited retinal disease service from January 2012 to December 2012...
November 15, 2017: Ophthalmic Epidemiology
https://www.readbyqxmd.com/read/29140698/mutation-induced-deamidation-of-corneal-dystrophy-related-transforming-growth-factor-%C3%AE-induced-protein
#11
Nadia Sukusu Nielsen, Dennis Wilkens Juhl, Ebbe Toftgaard Poulsen, Marie V Lukassen, Emil Christian Poulsen, Michael W Risør, Carsten Scavenius, Jan Johannes Enghild
Mutations in the transforming growth factor β-induced protein (TGFBIp) cause phenotypically diverse corneal dystrophies, where protein aggregation in the cornea leads to severe visual impairment. Previous studies have shown a relationship between mutant-specific corneal dystrophy phenotypes and the thermodynamic stability of TGFBIp. Using LC-MS/MS and NMR, we investigated correlations between the structural integrity of disease-related mutants of the fourth FAS1 domain (FAS1-4) and deamidation of TGFBIp residue Asn622...
November 15, 2017: Biochemistry
https://www.readbyqxmd.com/read/29139382/-episodes-of-recurrent-pneumothorax-in-a-patient-with-collagen-vi-related-congenital-muscular-dystrophy
#12
Rémi Bellance, Rudy Valentino, Bruno Sanchez, Octavio Labrada-Blanco, Linda Manere, J Andoni Urtizberea, Elisabeth Sarrazin
No abstract text is available yet for this article.
November 2017: Médecine Sciences: M/S
https://www.readbyqxmd.com/read/29138120/recessive-mutation-in-tetraspanin-cd151-causes-kindler-syndrome-like-epidermolysis-bullosa-with-multi-systemic-manifestations-including-nephropathy
#13
Hassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, Hamid Reza Mahmoudi, Andrew Touati, Maryam Abiri, Abdol-Mohammad Kajbafzadeh, Sophia Aristodemou, Lu Liu, John A McGrath, Adam Ertel, Eric Londin, Ariana Kariminejad, Sirous Zeinali, Paolo Fortina, Jouni Uitto
Epidermolysis bullosa (EB) is caused by mutations in as many as 19 distinct genes. We have developed a next-generation sequencing (NGS) panel targeting genes known to be mutated in skin fragility disorders, including tetraspanen CD151 expressed in keratinocytes at the dermal-epidermal junction. The NGS panel was applied to a cohort of 92 consanguineous families of unknown subtype of EB. In one family, a homozygous donor splice site mutation in CD151 (NM_139029; c.351+2T>C) at the exon 5/intron 5 border was identified, and RT-PCR and whole transcriptome analysis by RNA-seq confirmed deletion of the entire exon 5 encoding 25 amino acids...
November 11, 2017: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/29138090/novel-de-novo-dysferlin-gene-mutations-in-a-patient-with-miyoshi-myopathy
#14
Yi-Ying Hu, Ya-Jun Lian, Hong-Liang Xu, Ya-Ke Zheng, Chen-Fei Li, Ji-Wei Zhang, Shu-Ping Yan
Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy caused by mutations in the dysferlin gene (DYSF), a 150-kb gene on chromosome 2p13 that contains 55 coding exons. Many patients with MM harbour mutations in the DYSF gene, and most of these mutations are inherited from the patients' parents. Recently, we encountered novel, de novo mutations in the DYSF gene in a patient with MM. DYSF gene analysis was performed by targeted next-generation sequencing, and we found that the patient had compound heterozygous mutations, including a de novo mutation (c...
November 11, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/29136408/fuchs-endothelial-and-myotonic-dystrophies-corneal-dystrophy-in-myotonic-patients
#15
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/29134705/a-dystroglycan-mutation-p-cys667phe-associated-to-muscle-eye-brain-disease-with-multicystic-leucodystrophy-results-in-er-retention-of-the-mutant-protein
#16
Giulia Signorino, Sonia Covaceuszach, Manuela Bozzi, Wolfgang Hubner, Viola Mönkemöller, Petr V Konarev, Alberto Cassetta, Andrea Brancaccio, Francesca Sciandra
Dystroglycan (DG) is a cell adhesion complex composed by two subunits, the highly glycosylated α-DG and the transmembrane β-DG. In skeletal muscle, DG is involved in dystroglycanopathies, a group of heterogeneous muscular dystrophies characterized by a reduced glycosylation of α-DG. The genes mutated in secondary dystroglycanopathies are involved in the synthesis of O-mannosyl glycans and in the O-mannosylation pathway of α-DG. Mutations in the DG gene (DAG1), causing primary dystroglycanopathies, destabilize the α-DG core protein influencing its binding to modifying enzymes...
November 13, 2017: Human Mutation
https://www.readbyqxmd.com/read/29133652/hospital-anxiety-and-depression-scale-assessment-of-100-patients-before-and-after-using-low-vision-care-a-prospective-study-in-a-tertiary-eye-care-setting
#17
Pukhraj Rishi, Ekta Rishi, Aditya Maitray, Ashutosh Agarwal, Sridevi Nair, Sarika Gopalakrishnan
PURPOSE: Assessment of anxiety and depression in patients attending low vision care (LVC) using Hospital Anxiety and Depression Scale (HADS). METHODS: In this prospective, observational study, 100 patients with best-corrected visual acuity (BCVA) worse than 6/18 in the better eye or limitation of field of vision to <10° from center of fixation were assessed on the depression and anxiety subscales of HADS questionnaire before and after LVC. HADS is a 14-item scale with seven items each for anxiety and depression subscales...
November 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29132691/-practical-assessment-of-dsaek-in-the-management-of-endothelial-decompensation-following-penetrating-keratoplasty
#18
E Neiter, C Goetz, F Tortuyaux, A Ehrhardt, N Houmad, J-M Perone
PURPOSE: To report our anatomical and functional results as well as possible complications of the first six Descemet's stripping endothelial keratoplasties (DSAEK) performed in our department for endothelial decompensation after penetrating keratoplasty (PK) METHODS: This was a retrospective and observational monocentric study of six patients with DSAEK after prior PK between January 2015 and July 2016. The data collected were: demographic characteristics (age, sex), ophthalmological comorbidities, initial indication for PK, delay between PK and DSAEK...
November 11, 2017: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/29130550/-1-h-nmrs-of-carnosine-combined-with-31-p-nmrs-to-better-characterize-skeletal-muscle-ph-dysregulation-in-duchenne-muscular-dystrophy
#19
Harmen Reyngoudt, Suna Turk, Pierre G Carlier
In recent years, quantitative nuclear magnetic resonance imaging and spectroscopy (NMRI and NMRS) have been used more systematically as outcome measures in natural history and clinical trial studies for Duchenne muscular dystrophy (DMD). Whereas most of these studies have emphasized the evaluation of the fat fraction as an assessment for disease severity, less focus has been placed on metabolic indices measured by NMRS. (31) P NMRS in DMD reveals an alkaline inorganic phosphate (Pi ) pool, originating from either leaky dystrophic myocytes or an increased interstitial space...
November 12, 2017: NMR in Biomedicine
https://www.readbyqxmd.com/read/29130502/cardiac-involvement-in-the-muscular-dystrophies
#20
REVIEW
Nicholas J Silvestri, Haisam Ismail, Peter Zimetbaum, Elizabeth M Raynor
Cardiac disease is a common clinical manifestation present in a variety of neuromuscular disorders, most notably the muscular dystrophies. Heart disease may produce the presenting or predominant symptoms in these disorders but more often does not result in clinical features at the time of initial presentation. Cardiac involvement in the muscular dystrophies results from pathologic changes in the myocardium and the cardiac conduction system, leading to cardiomyopathy and/or rhythm disturbances including supraventricular arrhythmias, life-threatening ventricular arrhythmias, and sudden cardiac death...
November 11, 2017: Muscle & Nerve
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