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https://www.readbyqxmd.com/read/30341596/myotonic-dystrophies-targeting-therapies-for-multisystem-disease
#1
REVIEW
Samantha LoRusso, Benjamin Weiner, W David Arnold
Myotonic dystrophy is an autosomal dominant muscular dystrophy not only associated with muscle weakness, atrophy, and myotonia but also prominent multisystem involvement. There are 2 similar, but distinct, forms of myotonic dystrophy; type 1 is caused by a CTG repeat expansion in the DMPK gene, and type 2 is caused by a CCTG repeat expansion in the CNBP gene. Type 1 is associated with distal limb, neck flexor, and bulbar weakness and results in different phenotypic subtypes with variable onset from congenital to very late-onset as well as variable signs and symptoms...
October 18, 2018: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/30341537/prognostic-impact-of-skeletal-muscle-assessed-by-computed-tomography-in-patients-with-acute-myeloid-leukemia
#2
Nobuhiko Nakamura, Soranobu Ninomiya, Takuro Matsumoto, Hiroshi Nakamura, Junichi Kitagawa, Makoto Shiraki, Takeshi Hara, Masahito Shimizu, Hisashi Tsurumi
Skeletal muscle atrophy and loss of adipose tissue, referred to as sarcopenia and adipopenia, respectively, are often observed in cancer patients. We investigated the impact of sarcopenia and adipopenia on clinical outcomes in 90 adult patients with newly diagnosed acute myeloid leukemia (AML) who received induction chemotherapy. Computed tomography (CT) before treatment revealed sarcopenia in 39 patients (43%) and adipopenia in 35 patients (39%). We analyzed the treatment efficacy of induction chemotherapy and survival outcomes...
October 19, 2018: Annals of Hematology
https://www.readbyqxmd.com/read/30341531/radiological-aspect-of-klippel-tr%C3%A3-naunay-syndrome-a-case-series-with-review-of-literature
#3
Osamah Alwalid, Joyman Makamure, Qi-Guang Cheng, Wen-Jun Wu, Chao Yang, Elham Samran, Ping Han, Hui-Min Liang
Klippel-Trénaunay syndrome (KTS) is a rare angio-osteo-hypertrophic syndrome characterized by vascular malformations, soft tissue and/or bone hypertrophy, and varicose veins. For the purpose of describing the imaging findings and elucidating the role of medical imaging in the diagnosis and assessment of patient with KTS, we have reviewed the imaging data of 14 KTS patients. The imaging features on different imaging modalities were analyzed. Unilateral lower limb involvement was evident in 71% of cases (n=10) and bilateral but asymmetric lower limb involvement in the remaining 29% of cases (n=4)...
October 2018: Current medical science
https://www.readbyqxmd.com/read/30341275/ischemic-fasciitis-of-the-left-buttock-in-a-40-year-old-woman-with-beta-propeller-protein-associated-neurodegeneration-bpan
#4
Akio Sakamoto, Ryuzo Arai, Takeshi Okamoto, Yosuke Yamada, Hodaka Yamakado, Shuichi Matsuda
BACKGROUND Ischemic fasciitis is a rare condition that occurs in debilitated and immobilized individuals, usually overlying bony protuberances. Because the histology shows a pseudosarcomatous proliferation of atypical fibroblasts, and because the lesion can increase in size, ischemic fasciitis can mimic sarcoma. Beta-propeller protein-associated neurodegeneration (BPAN) arises in infancy and is due to mutations in the WDR45 gene on the X chromosome. BPAN results in progressive symptoms of dystonia, Parkinsonism, and dementia once the individual reaches adolescence or early adulthood, and is usually fatal before old age...
October 20, 2018: American Journal of Case Reports
https://www.readbyqxmd.com/read/30340833/adipose-tissue-browning-in-cancer-associated-cachexia-can-be-attenuated-by-inhibition-of-exosome-generation
#5
Wenjun Hu, Zeyuan Ru, Wen Xiao, Zhiyong Xiong, Cheng Wang, Changfei Yuan, Xiaoping Zhang, Hongmei Yang
Cancer-associated cachexia (CAC) is a disorder characterized by unintended weight loss due to skeletal muscle wasting and adipose tissue loss. Although muscle atrophy in this condition has been well studied, the mechanisms underlying adipose tissue loss, which include browning, have not been investigated in detail. In this respect, though recent studies have shown that exosomes from cancer cells can promote lipolysis, the link between exosomes from cancer cells and CAC has not been clearly established. In this study, we investigate if exosomes from Lewis lung carcinoma (LLC) cells can induce lipolysis in vitro (in 3T3-L1 adipocytes) and in vivo (in LLC tumor-bearing mice)...
October 16, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/30340467/transplantation-gene-therapy-and-intestinal-pathology-in-mngie-patients-and-mice
#6
Rana Yadak, Max V Boot, Niek P van Til, Dominique Cazals-Hatem, Armin Finkenstedt, Elly Bogaerts, Irenaeus F de Coo, Marianna Bugiani
BACKGROUND: Gastrointestinal complications are the main cause of death in patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Available treatments often restore biochemical homeostasis, but fail to cure gastrointestinal symptoms. METHODS: We evaluated the small intestine neuromuscular pathology of an untreated MNGIE patient and two recipients of hematopoietic stem cells, focusing on enteric neurons and glia. Additionally, we evaluated the intestinal neuromuscular pathology in a mouse model of MNGIE treated with hematopoietic stem cell gene therapy...
October 19, 2018: BMC Gastroenterology
https://www.readbyqxmd.com/read/30338859/apoptotic-changes-in-a-full-lengthened-immobilization-model-of-rat-soleus-muscle
#7
Hye Rim Suh, Eui Ho Park, Sun Wook Moon, Ji Won Kim, Hwi Young Cho, Hee Chul Han
INTRODUCTION: Lengthened immobilization may prevent muscle shortening, and help maintain normal muscle length. However, its apoptotic effects remain unclear. We evaluated the effects of long-term immobilization on apoptotic proteins. METHODS: Rat soleus muscles were immobilized by casting in a neutral (NEUT) or lengthened (LENG) position for 21 days. We evaluated dynamic weight load and muscle atrophy following the 21-day period using hematoxylin and eosin staining...
October 19, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/30338657/repressors-of-mtorc1-act-to-blunt-the-anabolic-response-to-feeding-in-the-soleus-muscle-of-a-cast-immobilized-mouse-hindlimb
#8
Kevin L Shimkus, Leonard S Jefferson, Bradley S Gordon, Scot R Kimball
We recently reported results showing that cast immobilization of a rat hindlimb rapidly leads to development of anabolic resistance as demonstrated by failure of oral leucine administration to activate the mechanistic target of rapamycin complex 1 (mTORC1) and stimulate protein synthesis in the soleus muscle. The goal of this study was to assess the possible contribution of several mTORC1 regulatory proteins to the development of anabolic resistance. To accomplish this, 14-week-old male C57BL/6 mice (n = 21) were subjected to unilateral cast immobilization of the hindlimb for either 1 or 3 days, and the immobilized limb was compared to its contralateral control...
October 2018: Physiological Reports
https://www.readbyqxmd.com/read/30338442/gne-myopathy-etiology-diagnosis-and-therapeutic-challenges
#9
REVIEW
Nuria Carrillo, May C Malicdan, Marjan Huizing
GNE myopathy, previously known as hereditary inclusion body myopathy (HIBM), or Nonaka myopathy, is a rare autosomal recessive muscle disease characterized by progressive skeletal muscle atrophy. It has an estimated prevalence of 1 to 9:1,000,000. GNE myopathy is caused by mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis. The pathophysiology of the disease is not entirely understood, but hyposialylation of muscle glycans is thought to play an essential role. The typical presentation is bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood...
October 18, 2018: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/30337877/knee-extensors-muscle-plasticity-over-a-5-years-rehabilitation-process-after-open-knee-surgery
#10
Martin Flück, Claudio Viecelli, Andreas M Bapst, Stephanie Kasper, Paola Valdivieso, Martino V Franchi, Severin Ruoss, Jean-Marc Lüthi, Martin Bühler, Helgard Claassen, Hans Hoppeler, Christian Gerber
We investigated molecular and cellular parameters which set metabolic and mechanical functioning of knee extensor muscles in the operated and contralateral control leg of 9 patients with a chronically insufficient anterior cruciate ligament (ACL; 26.6 ± 8.3 years, 8 males, 1 female) after open reconstructive surgery (week 0), after ambulant physiotherapy under cast immobilization (week 9), succeeding rehabilitation training (up to week 26), and subsequent voluntary physical activity (week 260). Clinical indices of knee function in the operated leg were improved at 52 weeks and remained at a comparable level at week 260...
2018: Frontiers in Physiology
https://www.readbyqxmd.com/read/30337273/safety-tolerability-and-preliminary-efficacy-of-an-igf-1-mimetic-in-patients-with-spinal-and-bulbar-muscular-atrophy-a-randomised-placebo-controlled-trial
#11
Christopher Grunseich, Ram Miller, Therese Swan, David J Glass, Mohamed El Mouelhi, Mara Fornaro, Olivier Petricoul, Igor Vostiar, Ronenn Roubenoff, Matthew N Meriggioli, Angela Kokkinis, Robert D Guber, Maher S Budron, John Vissing, Gianni Soraru, Tahseen Mozaffar, Albert Ludolph, John T Kissel, Kenneth H Fischbeck
BACKGROUND: Spinal and bulbar muscular atrophy is an X-linked neuromuscular disease caused by CAG repeat expansion in the androgen receptor gene. Patients with this disease have low concentrations of insulin-like growth factor-1 (IGF-1), and studies of overexpression and administration of IGF-1 showed benefit in a transgenic model; thus the IGF-1 pathway presents as a potential treatment target. We assessed safety, tolerability, and preliminary efficacy of BVS857, an IGF-1 mimetic, in patients with spinal and bulbar muscular atrophy...
October 15, 2018: Lancet Neurology
https://www.readbyqxmd.com/read/30337027/the-comparison-of-ultrasound-assisted-immersion-freezing-air-freezing-and-immersion-freezing-on-the-muscle-quality-and-physicochemical-properties-of-common-carp-cyprinus-carpio-during-freezing-storage
#12
Qinxiu Sun, Fangda Sun, Xiufang Xia, Honghua Xu, Baohua Kong
This study investigated the impact of ultrasound-assisted immersion freezing (UIF), air freezing (AF), and immersion freezing (IF) on the ice crystal size, protein thermal stability, and physicochemical properties of common carp (Cyprinus carpio) muscle during frozen storage. UIF samples had smaller ice crystals throughout the storage period than AF and IF samples did, which led to less damage to the muscle tissue. Low-field nuclear magnetic resonance analysis revealed that UIF reduced the mobility and loss of immobilized and free water...
October 6, 2018: Ultrasonics Sonochemistry
https://www.readbyqxmd.com/read/30335171/complete-bilateral-brachial-plexus-injury-from-rhabdomyolysis-and-compartment-syndrome-surgical-case-report
#13
Daniel A Tonetti, Ivan S Tarkin, Kiran Bandi, John J Moossy
BACKGROUND AND IMPORTANCE: Acute bilateral brachial plexus injury is rare and usually a result of traction injury. Immediate operative intervention is reserved for rare cases of ongoing compression of the plexus; the role for acute decompression of the brachial plexus secondary to compartment syndrome has not been previously described. In this report, we describe the technique and role for urgent brachial plexus decompression. CLINICAL PRESENTATION: A 32-yr-old man presented with acute complete bilateral brachial plexus palsy due to focal rhabdomyolysis and brachial plexus compression after a night of excess alcohol and methadone ingestion...
October 17, 2018: Operative Neurosurgery (Hagerstown, Md.)
https://www.readbyqxmd.com/read/30332436/effects-of-activated-vitamin-d-alfacalcidol-and-low-intensity-aerobic-exercise-on-osteopenia-and-muscle-atrophy-in-type-2-diabetes-mellitus-model-rats
#14
Manabu Akagawa, Naohisa Miyakoshi, Yuji Kasukawa, Yuichi Ono, Yusuke Yuasa, Itsuki Nagahata, Chiaki Sato, Hiroyuki Tsuchie, Hiroyuki Nagasawa, Michio Hongo, Yoichi Shimada
Diabetes mellitus causes secondary osteoporosis and muscle atrophy. The ability of alfacalcidol (ALF) and exercise (Exe) to inhibit osteoporosis and muscle atrophy in type 2 diabetes mellitus (T2DM) model rats was examined. Twenty-week-old Otsuka Long-Evans Tokushima Fatty rats were randomized to ALF (orally 0.1 μg/kg/day), Exe (treadmill exercise at 10 m/min, 60 min/day, 5 days/week), Comb (ALF and Exe), and Cont (T2DM control treated with vehicle and no exercise) groups (n = 8-10 per group). Sedentary Long-Evans Tokushima Otsuka rats were used as a non-hyperphagic control...
2018: PloS One
https://www.readbyqxmd.com/read/30327977/calpain-inhibition-increases-smn-protein-in-spinal-cord-motoneurons-and-ameliorates-the-spinal-muscular-atrophy-phenotype-in-mice
#15
Sandra de la Fuente, Alba Sansa, Ambika Periyakaruppiah, Ana Garcera, Rosa M Soler
Spinal muscular atrophy (SMA), a leading genetic cause of infant death, is caused by the loss of survival motor neuron 1 (SMN1) gene. SMA is characterized by the degeneration and loss of spinal cord motoneurons (MNs), muscular atrophy, and weakness. SMN2 is the centromeric duplication of the SMN gene, whose numbers of copies determine the intracellular levels of SMN protein and define the disease onset and severity. It has been demonstrated that elevating SMN levels can be an important strategy in treating SMA and can be achieved by several mechanisms, including promotion of protein stability...
October 16, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/30327348/shift-from-androgen-to-estrogen-action-causes-abdominal-muscle-fibrosis-atrophy-and-inguinal-hernia-in-a-transgenic-male-mouse-model
#16
Hong Zhao, Ling Zhou, Lin Li, John Coon V, Robert T Chatterton, David C Brooks, Enze Jiang, Li Liu, Xia Xu, Zhiyong Dong, Francesco J DeMayo, Jonah J Stulberg, Warren G Tourtellotte, Serdar E Bulun
Inguinal hernia develops primarily in elderly men, and more than one in four men will undergo inguinal hernia repair during their lifetime. However, the underlying mechanisms behind hernia formation remain unknown. It is known that testosterone and estradiol can regulate skeletal muscle mass. We herein demonstrate that the conversion of testosterone to estradiol by the aromatase enzyme in lower abdominal muscle (LAM) tissue causes intense fibrosis, leading to muscle atrophy and inguinal hernia; an aromatase inhibitor entirely prevents this phenotype...
October 16, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/30327220/different-clinicopathological-features-between-japanese-siblings-with-facioscapulohumeral-muscular-dystrophy-2-with-a-novel-nonsense-smchd1-mutation-arg552-%C3%A2
#17
Yasuyuki Ohta, Koh Tadokoro, Ryo Sasaki, Yoshiaki Takahashi, Kota Sato, Mami Takemoto, Nozomi Hishikawa, Jingwei Shang, Toru Yamashita, Yasushi Takehisa, Ichizo Nishino, Koji Abe
Facioscapulohumeral muscular dystrophy (FSHD) 2 is caused by a combination of heterozygous structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1) mutation plus DNA hypomethylation on D4Z4. Here we report two Japanese FSHD2 siblings (brother and sister) with a new SMCHD1 nonsense mutation (a heterogeneous c. 1654C > T substitution, leading to a stop codon Arg552∗ ). They showed the typical phenotype of FSHD2 such as asymmetric muscle weakness and atrophy in bilateral facial, scapular and humeral muscles, but different clinicopathological features between them...
October 13, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/30326363/hemocompatibility-and-anti-fouling-behavior-of-multilayer-biopolymers-immobilized-on-gold-thiolized-drug-eluting-cardiovascular-stents
#18
Li-Ying Huang, Ming-Chien Yang, Hui-Ming Tsou, Ting-Yu Liu
To solve the thrombosis and restenosis problem in cardiovascular stent implantation for cardiovascular artery disease, chondroitin 6-sulfate (ChS) with heparin (HEP) have been used as drug carrier layers and alternatively covalently bonded on gold (Au)-dimercaptosuccinic acid (DMSA)-thiolized cardiovascular metallic (SUS316 L stainless steel, SS) stents. Sirolimus, a model drug, was encapsulated in the ChS-HEP alternative layers. The behavior of the drug in releasing and suppressing the growth of smooth-muscle cells (SMCs) was evaluated with 5-layer CHS-HEP coating on the SS stents...
October 9, 2018: Colloids and Surfaces. B, Biointerfaces
https://www.readbyqxmd.com/read/30326173/a-comparison-study-of-prabotulinumtoxina-versus-onabotulinumtoxina-in-myostatin-deficient-mice-with-muscle-hypertrophy
#19
Dong-Ho Bak, Mi Ji Choi, Esther Lee, Tae-Rin Kwon, Jong Hwan Kim, Sang-Hyun Nam, Kyoung-Yun Kim, Seung Won Ahn, Seog-Kyun Mun, Jungtae Na, Beom Joon Kim
Botulinum toxin A (BoNT-A) is used clinically for various muscle disorders and acts by preventing the release of the neurotransmitter acetylcholine into the synapse space. Here, we compared the efficacy of prabotulinumtoxinA (PRA) and onabotulinumtoxinA (ONA) for the reduction of hypertrophy in myostatin-deficiency (Mstn-/- ) mice. Two different BoNT-A products (2.5, 10, and 25 U/kg) were injected to paralyze the hind limb for 2 months, after which sciatic nerve conduction study (NCS), 3D micro-CT, Haematoxylin &Eosin (H&E) and dystrophin staining were conducted...
October 16, 2018: Basic & Clinical Pharmacology & Toxicology
https://www.readbyqxmd.com/read/30325108/cachexia-does-not-induce-loss-of-myonuclei-or-muscle-fibers-during-xenografted-prostate-cancer-in-mice
#20
I M Winje, X Sheng, K-A Hansson, A Solbrå, S Tennøe, F Saatcioglu, J C Bruusgaard, K Gundersen
AIM: Cachexia is a severe wasting disorder involving loss of body- and muscle mass reducing survival and quality of life in cancer patients. We aim at determining if cachexia is a mere perturbation of the protein balance or if the condition also involves a degenerative loss myonuclei within the fiber syncytia or loss of whole muscle fibers. METHODS: We induced cachexia by xenografting PC3 prostate cancer cells in nu/nu mice. Six weeks later, we counted myonuclei by in vivo microscopic imaging of single live fibers in the extensor digitorum longus muscle (EDL), and the EDL, soleus and tibialis anterior muscles were also harvested for ex vivo histology...
October 16, 2018: Acta Physiologica
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