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https://www.readbyqxmd.com/read/28070494/pure-myopathy-with-enlarged-mitochondria-associated-to-a-new-mutation-in-mtnd2-gene
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/27863379/targeted-next-generation-sequencing-identifies-two-novel-mutations-in-sepn1-in-rigid-spine-muscular-dystrophy-1
#14
Yi Dai, Shengran Liang, Yan Huang, Lin Chen, Santasree Banerjee
Rigid spine muscular dystrophy 1 (RSMD1) is a neuromuscular disorder, manifested with poor axial muscle strength, scoliosis and neck weakness, and a variable degree of spinal rigidity with an early ventilatory insufficiency which can lead to death by respiratory failure. Mutations of SEPN1 gene are associated with autosomal recessive RSMD1. Here, we present a clinical molecular study of a Chinese proband with RSMD1. The proband is a 17 years old male, showing difficulty in feeding, delayed motor response, problem in running with frequent fall down, early onset respiratory insufficiency, general muscle weakness and rigid cervical spine...
November 14, 2016: Oncotarget
https://www.readbyqxmd.com/read/27837354/congenital-cranial-dysinnervation-disorders
#15
REVIEW
Anupam Singh, P K Pandey, Ajai Agrawal, Sanjeev Kumar Mittal, Kartik Maheshbhai Rana, Chirag Bahuguna
The European Neuromuscular Centre (ENMC) derived the term Congenital Cranial Dysinnervation Disorders in 2002 at an international workshop for a group of congenital neuromuscular diseases. CCDDs are congenital, non-progressive ophthalmoplegia with restriction of globe movement in one or more fields of gaze. This group of sporadic and familial strabismus syndromes was initially referred to as the 'congenital fibrosis syndromes' because it was assumed that the primary pathologic process starts in the muscles of eye motility...
November 11, 2016: International Ophthalmology
https://www.readbyqxmd.com/read/27830184/novel-hspb1-mutation-causes-both-motor-neuronopathy-and-distal-myopathy
#16
D J Lewis-Smith, J Duff, A Pyle, H Griffin, T Polvikoski, D Birchall, R Horvath, P F Chinnery
OBJECTIVE: To identify the cause of isolated distal weakness in a family with both neuropathic and myopathic features on EMG and muscle histology. METHODS: Case study with exome sequencing in 2 affected individuals, bioinformatic prioritization of genetic variants, and segregation analysis of the likely causal mutation. Functional studies included Western blot analysis of the candidate protein before and after heat shock treatment of primary skin fibroblasts. RESULTS: A novel HSPB1 variant (c...
December 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27816333/ischemic-stroke-due-to-hypoperfusion-in-a-patient-with-a-previously-unrecognized-danon-disease
#17
Marco Marino, Olimpia Musumeci, Giuseppe Paleologo, Maria Cucinotta, Alba Migliorato, Carmelo Rodolico, Antonio Toscano
Danon disease, an X-linked multisystemic disorder, is due to deficiency of Lysosome-Associated Membrane Protein 2 (LAMP2). It is usually characterized by hypertrophic cardiomyopathy, mental retardation and skeletal myopathy, sometimes also with atypical features. A 20-year-old man with cognitive impairment was admitted to the Emergency Room because of a sudden chest pain. ECG showed Wolff-Parkinson-White syndrome; echocardiography revealed hypertrophic cardiomyopathy, and, shortly after, he experienced a cardiac arrest followed by an occipital ischemic stroke...
December 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27815113/rosuvastatin-safety-an-experimental-study-of-myotoxic-effects-and-mitochondrial-alterations-in-rats
#18
Samar O El-Ganainy, Ahmed El-Mallah, Dina Abdallah, Mahmoud M Khattab, Mahmoud M Mohy El-Din, Aiman S El-Khatib
Myopathy is the most commonly reported adverse effect of statins. All statins are associated with myopathy, though with different rates. Rosuvastatin is a potent statin reported to induce myopathy comparable to earlier statins. However, in clinical practice most patients could tolerate rosuvastatin over other statins. This study aimed to evaluate the myopathic pattern of rosuvastatin in rats using biochemical, functional and histopathological examinations. The possible deleterious effects of rosuvastatin on muscle mitochondria were also examined...
January 4, 2017: Toxicology Letters
https://www.readbyqxmd.com/read/27790792/als-associated-endoplasmic-reticulum-proteins-in-denervated-skeletal-muscle-implications-for-motor-neuron-disease-pathology
#19
C M Jesse, E Bushuven, P Tripathi, A Chandrasekar, C M Simon, C Drepper, A Yamoah, A Dreser, I Katona, S Johann, C Beyer, S Wagner, M Grond, S Nikolin, J Anink, D Troost, M Sendtner, A Goswami, J Weis
Alpha-motoneurons and muscle fibers are structurally and functionally interdependent. Both cell types particularly rely on endoplasmic reticulum (ER/SR) functions. Mutations of the ER proteins VAPB, SigR1 and HSP27 lead to hereditary motor neuron diseases (MNDs). Here, we determined the expression profile and localization of these ER proteins/chaperons by immunohistochemistry and immunoblotting in biopsy and autopsy muscle tissue of patients with amyotrophic lateral sclerosis (ALS) and other neurogenic muscular atrophies (NMAs) and compared these patterns to mouse models of neurogenic muscular atrophy...
October 28, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27785400/sarcolemmal-deficiency-of-sarcoglycan-complex-in-an-18-month-old-turkish-boy-with-a-large-deletion-in-the-beta-sarcoglycan-gene
#20
G Diniz, H Tekgul, F Hazan, K Yararbas, A Tukun
Limb-girdle muscular dystrophy type 2E (LGMD-2E) is caused by autosomal recessive defects in the beta sarcoglycan (SGCB) gene located on chromosome 4q12. In this case report, the clinical findings, histopathological features and molecular genetic data in a boy with β sarcoglycanopathy are presented. An 18-month-old boy had a very high serum creatinine phosphokinase (CPK) level that was accidentally determined. The results of molecular analyses for the dystrophin gene was found to be normal. He underwent a muscle biopsy which showed dystrophic features...
December 1, 2015: Balkan Journal of Medical Genetics: BJMG
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