Use the keywords feature with a free QxMD account.
Use Read by QxMD to access full text via your institution or open access sources.
Read also provides personalized recommendations to keep you up to date in your field.
Existing User
Sign InNew to Read
Sign Up#1
JOURNAL ARTICLE
Andrea Hadjipanteli, Athina Theodosiou, Ioannis Papaevripidou, Paola Evangelidou, Angelos Alexandrou, Nicole Salameh, Ioannis Kallikas, Kyriakos Kakoullis, Sofia Frakala, Christina Oxinou, Andreas Marnerides, Ludmila Kousoulidou, Violetta C Anastasiadou, Carolina Sismani
Voltage-gated sodium channels (VGSCs) are responsible for the initiation and propagation of action potentials in the brain and muscle. Pathogenic variants in genes encoding VGSCs have been associated with severe disorders including epileptic encephalopathies and congenital myopathies. In this study, we identified pathogenic variants in genes encoding the α subunit of VGSCs in the fetuses of two unrelated families with the use of trio-based whole exome sequencing, as part of a larger cohort study. Sanger sequencing was performed for variant confirmation as well as parental phasing...
January 18, 2024: Genes
#2
M Onay, T Tanyel Kiremitçi, G Erdoğan Kayhan, D İlhan Algın, M S Güleç
MELAS syndrome is defined as mitochondrial myopathy accompanied by encephalopathy, lactic acidosis, myoclonus, stroke-like episodes. It has a progressive course, multi-systemic effects and severe complications. Myoclonic contractions are unresponsive to many anti-epileptic drugs; these contractions and spasms may lead to severe pain. Systemic analgesic drugs are not sufficient to control pain. Therefore, continuous brachial plexus blockage may be preferred. Infraclavicular brachial plexus catheter is placed in our case...
2023: Neurology India
#3
Xiuqin Zhao, Hengbing Zu, Kai Yao
Andersen-Tawil syndrome (ATS) is a rare periodic paralysis caused by the KCNJ2 gene mutation. Here, we report on an ATS patient misdiagnosed with myodystrophy. A 66-year-old man presented with a 60-year history of episodic weakness in the proximal muscles of the upper and lower limbs. The man has been diagnosed with muscle pathology and has undergone genetic examinations in many hospitals since childhood. We conducted a correct diagnosis in combination with the patient's history, electrical physiology, and genetic analysis and identified a heterozygous KCNJ2 gene variant (c...
2023: Frontiers in Neurology
#4
Josef Finsterer, Ritwik Ghosh
Hypokinetic and hyperkinetic movement disorders are a common phenotypic feature of mitochondrial disorders. Choreaballism has been reported particularly in patients with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome and in maternally inherited diabetes and deafness syndrome. The pathophysiological basis of movement disorders in mitochondrial disorders is the involvement of the basal ganglia or the midbrain. Haloperidol and mitochondrial cocktails have proven beneficial in some of these cases...
June 2023: Clinical Case Reports
#5
JOURNAL ARTICLE
Conor McClenaghan, Maya A Mukadam, Jacob Roeglin, Robert C Tryon, Manfred Grabner, Anamika Dayal, Gretchen A Meyer, Colin G Nichols
ABCC9-related intellectual disability and myopathy syndrome (AIMS) arises from loss-of-function (LoF) mutations in the ABCC9 gene, which encodes the SUR2 subunit of ATP-sensitive potassium (KATP ) channels. KATP channels are found throughout the cardiovascular system and skeletal muscle and couple cellular metabolism to excitability. AIMS individuals show fatigability, muscle spasms, and cardiac dysfunction. We found reduced exercise performance in mouse models of AIMS harboring premature stop codons in ABCC9...
May 8, 2023: EMBO Molecular Medicine
#6
Muniba Aslam, Sulhera Khan, Wajeeha Batool, Zeeshan Ali, Iqra M Hanif
Among the various inflammatory myopathies, the anti-synthetase syndrome (ASS) is a rare entity with autoantibodies directed against aminoacyl-transfer ribonucleic acid synthetase. Its clinical spectrum ranges from myopathy and non-erosive arthritis to dyspnea and cough of pulmonary interstitial disease and from hyperkeratotic skin changes to spasms of blood vessels causing Raynaud's phenomenon. We present a case of a 21-year-old female who had been suffering from fever, night sweats, and weight loss for two years and had remained undiagnosed...
March 2023: Curēus
#7
JOURNAL ARTICLE
Yan Dong, Xiaoyi Shi, Kaixian Du, Yali Shi, Jun Wang, Tianming Jia, Ke Zhang, Ruijuan Xu, Lijun Wang
OBJECTIVE: To analyze the clinical characteristics and genetic basis of two children patients with CHARGE syndrome. METHODS: The clinical features of the two patients were analyzed, and potential variants were detected by Trio whole exome sequencing (trio-WES) of the probands and their parents. RESULTS: Child 1 has manifested cerebellar vermis dysplasia, enlargement of cerebral ventricles, whereas child 2 manifested with infantile spasm and congenital hip dysplasia...
April 10, 2022: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
#8
JOURNAL ARTICLE
Asensio Gonzalez, Tinen L Iles, Paul A Iaizzo, Oliver Bandschapp
BACKGROUND: Statin intake is associated with muscular side effects, among which the unmasking of latent myopathies and of malignant hyperthermia (MH) susceptibility have been reported. These findings, together with experimental data in small animals, prompt speculation that statin therapy may compromise the performance of skeletal muscle during diagnostic in vitro contracture tests (IVCT). In addition, statins might reduce triggering thresholds in susceptible individuals (MHS), or exacerbate MH progression...
October 23, 2020: BMC Anesthesiology
#9
RANDOMIZED CONTROLLED TRIAL
Michael G Hanna, Umesh A Badrising, Olivier Benveniste, Thomas E Lloyd, Merrilee Needham, Hector Chinoy, Masashi Aoki, Pedro M Machado, Christina Liang, Katrina A Reardon, Marianne de Visser, Dana P Ascherman, Richard J Barohn, Mazen M Dimachkie, James A L Miller, John T Kissel, Björn Oskarsson, Nanette C Joyce, Peter Van den Bergh, Jonathan Baets, Jan L De Bleecker, Chafic Karam, William S David, Massimiliano Mirabella, Sharon P Nations, Hans H Jung, Elena Pegoraro, Lorenzo Maggi, Carmelo Rodolico, Massimiliano Filosto, Aziz I Shaibani, Kumaraswamy Sivakumar, Namita A Goyal, Madoka Mori-Yoshimura, Satoshi Yamashita, Naoki Suzuki, Masahisa Katsuno, Kenya Murata, Hiroyuki Nodera, Ichizo Nishino, Carla D Romano, Valerie S L Williams, John Vissing, Lixin Zhang Auberson, Min Wu, Ana de Vera, Dimitris A Papanicolaou, Anthony A Amato
BACKGROUND: Inclusion body myositis is an idiopathic inflammatory myopathy and the most common myopathy affecting people older than 50 years. To date, there are no effective drug treatments. We aimed to assess the safety, efficacy, and tolerability of bimagrumab-a fully human monoclonal antibody-in individuals with inclusion body myositis. METHODS: We did a multicentre, double-blind, placebo-controlled study (RESILIENT) at 38 academic clinical sites in Australia, Europe, Japan, and the USA...
September 2019: Lancet Neurology
#10
REVIEW
Marjolaine Baude, Jens Bo Nielsen, Jean-Michel Gracies
This paper revisits the taxonomy of the neurophysiological consequences of a persistent impairment of motor command execution in the classic environment of sensorimotor restriction and muscle hypo-mobilization in short position. Around each joint, the syndrome involves 2 disorders, muscular and neurologic. The muscular disorder is promoted by muscle hypo-mobilization in short position in the context of paresis, in the hours and days after paresis onset: this genetically mediated, evolving myopathy, is called spastic myopathy...
November 2019: Annals of Physical and Rehabilitation Medicine
#11
JOURNAL ARTICLE
N Nakajima, H Sato, K Takahashi, G Hasegawa, K Mizuno, S Hashimoto, Y Sato, S Terai
BACKGROUND: Histopathology of muscularis externa in primary esophageal motility disorders has been characterized previously. We aimed to correlate the results of high-resolution manometry with those of histopathology. METHODS: During peroral endoscopic myotomy, peroral esophageal muscle biopsy was performed in patients with primary esophageal motility disorders. Immunohistochemical staining for c-kit was performed to assess the interstitial cells of Cajal (ICCs)...
March 2017: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
#12
JOURNAL ARTICLE
Simon Edward Olpin, Elaine Murphy, Richard James Kirk, Robert William Taylor, Rosaline Quinlivan
Metabolic myopathies (MM) are rare inherited primary muscle disorders that are mainly due to abnormalities of muscle energy metabolism resulting in skeletal muscle dysfunction. These diseases include disorders of fatty acid oxidation, glyco(geno)lytic muscle disorders and mitochondrial respiratory chain (MRC) disease. Clinically these disorders present with a range of symptoms including infantile hypotonia, myalgia/exercise tolerance, chronic or acute muscle weakness, cramps/spasms/stiffness or episodic acute rhabdomyolysis...
June 2015: Journal of Clinical Pathology
#13
JOURNAL ARTICLE
Monica Masoero, Michela Bellocchia, Antonio Ciuffreda, Fabio Lm Ricciardolo, Giovanni Rolla, Caterina Bucca
We present a woman with heterozygous carnitine palmitoyl transferase 2 (CPT-2) deficiency who in the last 6 months suffered from episodic dyspnea and choking. Symptoms could not be attributed to her muscular energy defect, since heterozygous CPT-2 deficiency is usually asymptomatic or causes only mild muscle fatigability. Myopathy is usually triggered by concurrent factors, either genetic (additional muscle enzymes defects) or acquired (metabolic stress). The patient was referred to our respiratory clinic for suspect bronchial asthma...
May 2014: Allergy, Asthma & Immunology Research
#14
JOURNAL ARTICLE
Frank Schuster, Stephan Johannsen, Daniel Schneiderbanger, Norbert Roewer
BACKGROUND: Malignant hyperthermia (MH), a metabolic myopathy triggered by volatile anesthetics and depolarizing muscle relaxants, is a potentially lethal complication of general anesthesia in susceptible patients. The implementation of modern inhalation anesthetics that research indicates as less potent trigger substances and the recommended limitations of succinylcholine use, suggests there may be considerable decline of fulminant MH cases. In the presented study, the authors analyzed suspected MH episodes during general anesthesia of patients that were referred to the Wuerzburg MH unit between 2007 and 2011, assuming that MH is still a relevant anesthetic problem in our days...
September 23, 2013: BMC Anesthesiology
#15
JOURNAL ARTICLE
John M Rosen, Nancy Kuntz, Hector Melin-Aldana, Lee M Bass
Wilson disease (WD) is an autosomal-recessive disorder of hepatic copper metabolism that has tremendous variability in its presentation. Phenotypic diversity of the disease can lead to delayed diagnosis. We describe a case of WD in a 10-year-old boy presenting with 3 months of increasingly intense, spasmodic lower extremity muscle cramps. Physical examination revealed tenderness on calf palpation and dark flat lesions over his ankles, knees, and elbows. Initial testing revealed creatine kinase of 302 IU/L (normal 24-248 IU/L), hemoglobin of 8...
October 2013: Pediatrics
#16
JOURNAL ARTICLE
Siamak Karkheiran, Benedikt Bader, Mohammad Roohani, Adrian Danek, Gholam Ali Shahidi
Chorea-acanthocythosis (ChAc) is an inherited neurodegenerative disorder characterized by movement disorders, neuropsychiatric disturbances, neuropathy, myopathy, seizures and acanthocytosis accompanied by an elevated serum creatine kinase (CK) level. Its causative gene (VPS13A) produces chorein which is absent in ChAc patients as evaluated by Western blot assay. We report the first three Iranian patients whose disease has been confirmed by chorein Western blot. Our cases presented with heterogeneous courses of ChAc...
December 2012: Archives of Iranian Medicine
#17
JOURNAL ARTICLE
Manoj Kumar Mittal, Richard J Barohn, Mamatha Pasnoor, April McVey, Laura Herbelin, Thomas Whittaker, Mazen Dimachkie
OBJECTIVE: The frequency of ocular myasthenia gravis (OMG) in patients referred to an academic neuro-ophthalmology clinic for suspected myasthenia gravis is not known. Our objective was to determine the frequency of ocular OMG in patients referred to an academic neuro-ophthalmologist and determine alternate diagnoses and response to therapy. METHODS: We performed a retrospective chart review of patients presenting to the University of Kansas Neuro-Ophthalmology Clinic with suspected OMG over 9 years...
September 2011: Journal of Clinical Neuromuscular Disease
#18
JOURNAL ARTICLE
Michael D Stubblefield
Cancer rehabilitation is the subspecialty of rehabilitation medicine concerned with restoring and maintaining the highest possible level of function, independence, and quality of life to patients at all stages of their cancer diagnosis, including those undergoing potentially curative therapy and those receiving palliative care, as well as cancer survivors. Cancer rehabilitation physicians specialize in the evaluation and treatment of neuromuscular, musculoskeletal, and functional complications of cancer and cancer treatments such as acute and chronic pain, weakness, muscle spasm, myelopathy, radiculopathy, plexopathy, neuropathy, myopathy, deconditioning, contracture, spasticity, lymphedema, amputation, shoulder dysfunction, and gait disorders, among others...
June 2011: Seminars in Oncology
#19
JOURNAL ARTICLE
Natália Dias B Guimarães, Ana Paula Espindula, Laura Penna Rocha, Janaínna Grazielle Pacheco Olegário, Débora Tavares Resende Silva Abate, Renata Calciolari Rossi e Silva, Camila Lourencini Cavellani, Marlene Antônia dos Reis, Vicente de Paula Antunes Teixeira, Eumenia Costa da Cunha Castro, Rosana Rosa Miranda Corrêa
Kocher-Debré-Sémélaigne syndrome is a rare disease with little literature, which develops with myopathy in infancy associated with neuromuscular alterations, polymyositis with symmetrical proximal muscle weakness, pseudohypertrophy, muscular rigidity and spasms, exercise intolerance, myxoedema, short stature, and cretinism. Male patient aged 18 years old, 1.52 m in height, admitted in the General Hospital of Triângulo Mineiro Federal University on November 11, 2003, complaining of intense diffuse abdominal pain like severe cramps, without triggering factors, associated with asthenia and hyporexia...
January 2012: Annals of Diagnostic Pathology
#20
JOURNAL ARTICLE
Susanne A Schneider, Anthony E Lang, Elena Moro, Benedikt Bader, Adrian Danek, Kailash P Bhatia
Chorea-acanthocytosis is a rare autosomal recessive neurodegenerative disorder with a complex clinical presentation comprising of a mixed movement disorder (mostly chorea and dystonia), seizures, neuropathy and myopathy, autonomic features as well as dementia and psychiatric features. Because the differential diagnosis is wide, clinical clues and red flags are important. We report here our observation of characteristic neck and trunk flexion and extension spasms in four cases with advanced chorea-acanthocytosis...
July 30, 2010: Movement Disorders: Official Journal of the Movement Disorder Society
Make the most of Read.
Download the mobile app.
Download the mobile app.
Fetching more papers... 
