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https://www.readbyqxmd.com/read/28210382/paraneoplastic-dermatomyositis-with-cutaneous-and-myopathic-disease-responsive-to-adrenocorticotropic-hormone-therapy
#1
Marisa Wolff, Christopher Mancuso, Karan Lal, Damian Dicostanzo, Charles Gropper
Dermatomyositis is a myopathic or amyopathic autoimmune connective tissue disease that presents with classic dermatologic findings ranging from: poikilodermatous photosensitivity (shawl sign), eyelid edema and violaceous-pigmentation (heliotrope sign), lichenoid eruptions on the knuckles and elbows (Gottron's sign), periungual telangiectasias, and ragged cuticles (Samitz sign). Up to 30 percent of adult-onset cases of dermatomyositis may represent a paraneoplastic syndrome warranting a thorough work-up for malignancy...
January 2017: Journal of Clinical and Aesthetic Dermatology
https://www.readbyqxmd.com/read/28209438/excessive-daytime-sleepiness-in-a-patient-with-coexisting-myotonic-dystrophy-type-1-myasthenia-gravis-and-graves-disease
#2
Katarzyna Kapica-Topczewska, Robert Pogorzelski, Joanna Tarasiuk, Wiesław Drozdowski, Piotr Lewczuk, Alina Kułakowska
A 41-year-old female with history of Graves' disease, bilateral cataract, paroxysmal atrial fibrillation was admitted because of muscle weakness, daytime sleepiness, fatigability, drowsiness, bilateral eyelid ptosis, descending of head and lower jaw. On neurological examination the patient was presented with muscle weakness, muscle atrophy (in face and sternocleidomastoid muscles), features of myotonia and apocamnosis (orbicular muscles). Electromyography revealed myopathic changes, myotonic and pseudomyotonic discharges, positive repetitive nerve stimulation test in proximal muscles...
February 3, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28187523/hyperckemia-and-myalgia-are-a-common-presentation-of-anoctamin-5-ano5-related-myopathy-in-french-patients
#3
Constantinos Papadopoulos, Pascal Laforêt, Juliette Nectoux, Tanya Stojkovic, Karim Wahbi, Robert-Yves Carlier, Pierre G Carlier, Sarah Leonard-Louis, France Leturcq, Norma Romero, Bruno Eymard, Anthony Behin
Introduction Patients with ANO5 mutations may present not only limb-girdle muscular dystrophy type 2L or adult-onset Miyoshi-type myopathy but also with asymptomatic hyperCKemia, exercise intolerance, or rhabdomyolysis. Materials/Methods Data from 38 in France with ANO5 mutations with and without muscle weakness on first examination were compared. Results Twenty patients presented without muscle weakness. Median age at symptom onset or discovery of hyperCKemia was 23 years. Creatine kinase (CK) levels ranged from 200 to 40,000 U/L...
February 10, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28164378/a-patient-with-a-novel-purine-rich-element-binding-protein-a-pura-mutation
#4
Nobuhiko Okamoto, Hideto Nakao, Tetsuya Niihori, Yoko Aoki
There have been several reports on 5q31.3 microdeletion syndrome. The overlapping deleted region includes purine-rich element binding protein A (PURA), which encodes transcriptional activator protein Pur-α. Patients with PURA mutations show moderate to severe neurodevelopmental delay and learning disability. Neonatal hypotonia, respiratory insufficiency, feeding difficulties, and seizures are often seen. Dysmorphic features including myopathic faces are helpful as clinical signs of the diagnosis. We report a patient with a novel PURA mutation detected by whole-exome sequencing...
February 6, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28108548/the-effect-of-left-ventricular-pacing-on-transmural-activation-delay-in-myopathic-human-hearts
#5
Andreu Porta-Sánchez, Paul Angaran, Stéphane Massé, Krishnakumar Nair, Talha Farid, Karthikeyan Umapathy, John Asta, Sigfus Gizurarson, Kumaraswamy Nanthakumar
AIMS: Left ventricular (LV) epicardial pacing (LVEpiP) in human myopathic hearts does not decrease global epicardial activation delay compared with right ventricular (RV) endocardial pacing (RVEndoP); however, the effect on transmural activation delay has not been evaluated. To characterize the transmural electrical activation delay in human myopathic hearts during RVEndoP and LVEpiP compared with global epicardial activation delay. METHODS AND RESULTS: Explanted hearts from seven patients (5 male, 46 ± 10 years) undergoing cardiac transplantation were Langendorff-perfused and mapped using an epicardial sock electrode array (112 electrodes) and 25 transmural plunge needles (four electrodes, 2 mm spacing), for a total of 100 unipolar transmural electrodes...
January 20, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28106121/endoplasmic-reticulum-oxidative-stress-triggers-tgf-beta-dependent-muscle-dysfunction-by-accelerating-ascorbic-acid-turnover
#6
Diego Pozzer, Mariagrazia Favellato, Marco Bolis, Roberto William Invernizzi, Francesca Solagna, Bert Blaauw, Ester Zito
Endoplasmic reticulum (ER) and oxidative stress are two related phenomena that have important metabolic consequences. As many skeletal muscle diseases are triggered by oxidative stress, we explored the chain of events linking a hyperoxidized ER (which causes ER and oxidative stress) with skeletal muscle dysfunction. An unbiased exon expression array showed that the combined genetic modulation of the two master ER redox proteins, selenoprotein N (SEPN1) and endoplasmic oxidoreductin 1 (ERO1), led to an SEPN1-related myopathic phenotype due to excessive signalling of transforming growth factor (TGF)-beta...
January 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28104788/myo18b-is-essential-for-sarcomere-assembly-in-fast-skeletal-muscle
#7
Joachim Berger, Silke Berger, Mei Li, Peter D Currie
Congenital myopathies are muscle degenerative disorders with a broad clinical spectrum. A number of myopathies have been associated with molecular defects within sarcomeres, the force-generating component of the muscle cell. Whereas the highly regular organization of the myofibril has been studied in detail, in vivo assembly of sarcomeres remains a poorly understood process. Therefore, a more detailed knowledge of sarcomere assembly is crucial to better understand the pathogenic mechanisms within myopathies...
January 18, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28070494/pure-myopathy-with-enlarged-mitochondria-associated-to-a-new-mutation-in-mtnd2-gene
#8
Alice Zanolini, Ana Potic, Franco Carrara, Eleonora Lamantea, Daria Diodato, Flavia Blasevich, Silvia Marchet, Marina Mora, Francesco Pallotti, Lucia Morandi, Massimo Zeviani, Costanza Lamperti
To date, only few mutations in the mitochondrial DNA (mtDNA)-encoded ND2 subunit of Complex I have been reported, usually presenting a severe phenotype characterized by early onset encephalomyopathy and early death. In this report, we describe a new mutation in the MTND2 gene in a 21-year-old man with a mild myopathic phenotype characterized by exercise intolerance and increased plasma lactate at rest. Electromyography and brain NMR were normal, and no cardiac involvement was present. Muscle biopsy showed a massive presence of ragged red - COX-positive fibres, with enlarged mitochondria containing osmiophilic inclusions...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28066895/anti-hmgcr-necrotizing-myopathy-masquerading-as-a-muscular-dystrophy-in-a-child
#9
Payam Mohassel, A Reghan Foley, Sandra Donkervoort, Pierre R Fequiere, Katherine Pak, Carsten G Bönnemann, Andrew L Mammen
INTRODUCTION: Immune-mediated necrotizing myopathies (IMNM) are characterized by progressive weakness, elevated serum creatine kinase levels, and necrotizing myopathic features on muscle biopsy. Presence of highly specific autoantibodies against signal recognition particle (SRP) or 3-hydroxy-3-methylglutaryl- coenzyme A reductase (HMGCR) can aid in recognition and confirmation of IMNMs. METHODS: We describe a boy with HMGCR-positive necrotizing myopathy and highlight the clinical features in this patient...
January 9, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28056872/a-limb-girdle-myopathy-phenotype-of-runx2-mutation-in-a-patient-with-cleidocranial-dysplasia-a-case-study-and-literature-review
#10
Sung-Ju Hsueh, Ni-Chung Lee, Shu-Hua Yang, Han-I Lin, Chin-Hsien Lin
BACKGROUND: Cleidocranial dysplasia (CCD) is a rare hereditary disorder that arises from heterozygous loss of function mutations in the runt-related transcription factor 2 (RUNX2) gene. As RUNX2 is mainly expressed in osteoblasts, CCD typically affects the skeletal and dental systems. Few studies have investigated RUNX2 mutation effects on non-skeletal systems. Here, we describe limb-girdle myopathy, an uncommon phenotype of CCD, in a patient with a heterozygous missense mutation (p.R225Q) in the RUNX2 gene...
January 6, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28050007/adult-onset-mitochondrial-myopathy-encephalopathy-lactic-acidosis-and-stroke-melas-like-encephalopathy-diagnosed-based-on-the-complete-sequencing-of-mitochondrial-dna-extracted-from-biopsied-muscle-without-any-myopathic-changes
#11
Masako Mukai, Eiichiro Nagata, Atsushi Mizuma, Mitsuhiko Yamano, Keizo Sugaya, Ichizo Nishino, Yu-Ichi Goto, Shunya Takizawa
The clinical features of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) are not uniform. We herein report a male patient with unusual MELAS-like encephalopathy who had been experiencing isolated recurrent stroke-like episodes since he was 33 years old without any particular family history. Despite an extensive investigation, he had no other signs suggestive of MELAS. Although the muscle pathology showed a normal appearance, a mitochondrial genome sequence analysis of the biopsied muscle revealed a heteroplasmic m...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28045071/magnetic-resonance-microscopy-mrm-of-single-mammalian-myofibers-and-myonuclei
#12
Choong H Lee, Niclas Bengtsson, Stephen M Chrzanowski, Jeremy J Flint, Glenn A Walter, Stephen J Blackband
Recently, the first magnetic resonance microscopy (MRM) images at the cellular level in isolated mammalian brain tissues were obtained using microsurface coils. These methods can elucidate the cellular origins of MR signals and describe how these signals change over the course of disease progression and therapy. In this work, we explore the capability of these microimaging techniques to visualize mouse muscle fibers and their nuclei. Isolated myofibers expressing lacZ were imaged with and without a stain for β-galactosidase activity (S-Gal + ferric ammonium citrate) that produces both optical and MR contrast...
January 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28000226/abnormal-spontaneous-activity-in-primary-myopathic-disorders
#13
Monika Nojszewska, Malgorzata Gawel, Elzbieta Szmidt-Salkowska, Anna Kostera-Pruszczyk, Anna Potulska-Chromik, Anna Lusakowska, Biruta Kierdaszuk, Marta Lipowska, Anna Macias, Damian Gawel, Andrzej Seroka, Anna M Kaminska
INTRODUCTION: Reproducible noninsertional spontaneous activity (SA), with the exception of end-plate activity, is an unequivocal sign of abnormality and is one of the most useful findings on electromyography. METHODS: In this retrospective study we analyzed occurrence and distribution of abnormal SA in 151 patients with genetically confirmed myopathies. RESULTS: Complex repetitive discharges (CRD) occurred more frequently than fibrillation potentials (fibs) and positive sharp waves (PSW) in centronuclear myopathy (CNM) and limb-girdle muscular dystrophy type 2A (LGMD-2A), whereas fib/PSW were observed more often in desminopathy and facioscapulohumeral dystrophy (FSHD)...
December 21, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27989332/neuropathic-and-myopathic-pain
#14
REVIEW
Anthony C Rodrigues, Peter B Kang
The evaluation and management of childhood pain syndromes of neuromuscular origin have distinct challenges, as the patterns of disease presentation and the ability of a child to describe symptoms may differ from that of an adult. Advances in scientific and clinical knowledge are leading to significant progress in the care of affected children. The genetic origins of Fabry disease and the inherited form of erythromelalgia are better understood. The increasing interest in neuroimmunology among pediatric neurologists has led to more sophisticated diagnostic and therapeutic approaches...
August 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/27974811/recessive-piezo2-stop-mutation-causes-distal-arthrogryposis-with-distal-muscle-weakness-scoliosis-and-proprioception-defects
#15
Goknur Haliloglu, Kerstin Becker, Cagri Temucin, Beril Talim, Nalan Küçükşahin, Matthias Pergande, Susanne Motameny, Peter Nürnberg, Ustun Aydingoz, Haluk Topaloglu, Sebahattin Cirak
The genetic work-up of arthrogryposis is challenging due to the diverse clinical and molecular etiologies. We report a-18(3/12)-year-old boy, from a 2nd degree consanguineous family, who presented at 3(6/12) years with hypotonia, distal laxity, contractures, feeding difficulties at birth. He required surgery for progressive scoliosis at 16 years of age, and walked independently since then with an unstable gait and coordination defects. His latest examination at 18 years of age revealed a proprioceptive defect and loss-of-joint position sense in the upper limbs...
December 15, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27928452/evaluation-of-the-unit-rod-surgical-instrumentation-in-duchenne-scoliosis-a-retrospective-study
#16
Nedelcu T, Georgescu I
The article represents a retrospective clinical and radiological study. Objectives. Evaluating the safety and efficiency of the surgical treatment by using the Unit Rod for scoliosis in adolescents and children presenting Duchenne's muscular dystrophy. Summary. Surgical management of myopathic scoliosis still causes controversies regarding the timing of surgery (patient's age), the pelvic inclusion in the arthrodesis or the advantages of surgery over the conservatory treatment. The patients are very fragile and a long surgery with massive blood loss could lead to serious complications...
October 2016: Journal of Medicine and Life
https://www.readbyqxmd.com/read/27919547/granuloma-formation-in-a-patient-with-gne-myopathy-a-case-report
#17
Keiko Nakamura, Tsuyoshi Hamaguchi, Kenji Sakai, Daisuke Noto, Kenjiro Ono, Yukiko Hayashi, Ichizo Nishino, Masahito Yamada
We report a patient with GNE myopathy with a homozygous mutation (c.1505-4G>A) in GNE gene. The patient recognized progressive weakness of extremities at age 60. Neurological examination at age 65 revealed severe weakness and atrophy in the tibialis anterior muscles and distal predominant moderate weakness in the extremities. Muscle biopsy performed at age 65 showed myopathic changes with rimmed vacuoles, and the noteworthy finding was non-caseating epithelioid cell granuloma formation surrounded by numerous inflammatory cells...
November 18, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27896132/divergent-clinical-outcomes-of-alpha-glucosidase-enzyme-replacement-therapy-in-two-siblings-with-infantile-onset-pompe-disease-treated-in-the-symptomatic-or-pre-symptomatic-state
#18
Takashi Matsuoka, Yoshiyuki Miwa, Makiko Tajika, Madoka Sawada, Koichiro Fujimaki, Takashi Soga, Hideshi Tomita, Shigeru Uemura, Ichizo Nishino, Tokiko Fukuda, Hideo Sugie, Motomichi Kosuga, Torayuki Okuyama, Yoh Umeda
Pompe disease is an autosomal recessive, lysosomal glycogen storage disease caused by acid α-glucosidase deficiency. Infantile-onset Pompe disease (IOPD) is the most severe form and is characterized by cardiomyopathy, respiratory distress, hepatomegaly, and skeletal muscle weakness. Untreated, IOPD generally results in death within the first year of life. Enzyme replacement therapy (ERT) with recombinant human acid alpha glucosidase (rhGAA) has been shown to markedly improve the life expectancy of patients with IOPD...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27875946/the-role-of-sexual-dysfunction-and-infertility-on-reproductive-health-in-diabetics-pathogenesis-evaluation-and-management
#19
Jason Gandhi, Gautam Dagur, Kelly Warren, Noel Smith, Sardar Ali Khan
BACKGROUND: Uncontrolled or long-term diabetes mellitus is conducive to vascular and oxidative stress disturbances that impede several physiological systems, which may in turn elicit psychological symptoms. OBJECTIVE: We assess the sexual and hormonal complications of diabetes mellitus that impair reproductive function in males and females. METHOD: A comprehensive MEDLINE® search was guided using key words relevant to diabetes mellitus and reproductive health...
November 22, 2016: Current Diabetes Reviews
https://www.readbyqxmd.com/read/27875899/amelioration-of-energy-metabolism-by-melatonin-in-skeletal-muscle-of-rats-with-lps-induced-endotoxemia
#20
E Ozkok, H Yorulmaz, G Ates, A Aksu, N Balkis, Ö Şahin, S Tamer
In the literature, few studies have investigated the effects of melatonin on energy metabolism in skeletal muscle in endotoxemia. We investigated the effects of melatonin on tissue structure, energy metabolism in skeletal muscle, and antioxidant level of rats with endotoxemia. We divided rats into 4 groups, control, lipopolysaccharide (LPS) (20 mg/kg, i.p., single dose), melatonin (10 mg/kg, i.p., three times), and melatonin + LPS. Melatonin was injected i.p. 30 min before and after the 2nd and 4th hours of LPS injection...
November 23, 2016: Physiological Research
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