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HyperCKemia

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https://www.readbyqxmd.com/read/29880332/targeted-gene-panel-screening-is-an-effective-tool-to-identify-undiagnosed-late-onset-pompe-disease
#1
Marco Savarese, Annalaura Torella, Olimpia Musumeci, Corrado Angelini, Guja Astrea, Luca Bello, Claudio Bruno, Giacomo Pietro Comi, Giuseppina Di Fruscio, Giulio Piluso, Giuseppe Di Iorio, Manuela Ergoli, Gaia Esposito, Marina Fanin, Olimpia Farina, Chiara Fiorillo, Arcomaria Garofalo, Teresa Giugliano, Francesca Magri, Carlo Minetti, Maurizio Moggio, Luigia Passamano, Elena Pegoraro, Ester Picillo, Simone Sampaolo, Filippo Maria Santorelli, Claudio Semplicini, Bjarne Udd, Antonio Toscano, Luisa Politano, Vincenzo Nigro
Mutations in the GAA gene may cause a late onset Pompe disease presenting with proximal weakness without the characteristic muscle pathology, and therefore a test for GAA activity is the first tier analysis in all undiagnosed patients with hyperCKemia and/or limb-girdle muscular weakness. By using MotorPlex, a targeted gene panel for next generation sequencing, we analyzed GAA and other muscle disease-genes in a large cohort of undiagnosed patients with suspected inherited skeletal muscle disorders (n = 504)...
April 9, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29718260/asymptomatic-hyperckemia-during-infliximab-therapy-in-patients-with-inflammatory-bowel-disease
#2
Eirini Theodoraki, Eleni Orfanoudaki, Kalliopi Foteinogiannopoulou, Ioannis E Koutroubakis
Background: Both muscle-related complaints and elevated serum creatine kinase (CK) levels have been reported in patients with inflammatory bowel disease (IBD) treated with infliximab (IFX), mainly as case reports. The aim of this study was to investigate the effect of IFX therapy on serum CK levels in a cohort of Greek IBD patients. Methods: Demographic, clinical (including muscle complaints), and laboratory data of consecutive IBD patients undergoing IFX treatment and a matched control group of IBD patients without any use of biological treatment were retrospectively analyzed...
May 18, 2018: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/29718259/asymptomatic-hyperckemia-during-infliximab-therapy-in-patients-with-inflammatory-bowel-disease
#3
Konstantinos H Katsanos, Kallirroi Kyriakidi, Alexandros Skamnelos, Dimitrios K Christodoulou
No abstract text is available yet for this article.
May 18, 2018: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/29685414/a-novel-capn3-mutation-in-late-onset-limb-girdle-muscular-dystrophy-with-early-respiratory-insufficiency
#4
Jennifer M Martinez-Thompson, Steven A Moore, Teerin Liewluck
We describe a 70 year-old independently ambulatory man with a 10-year history of progressive axial and limb-girdle weakness, hyperCKemia, and a 5-year history of dyspnea requiring nocturnal ventilatory support due to a known c.1309C>T (p.Arg437Cys) variant and a novel in-frame deletion of exons 17-19 in the calpain-3 encoding gene (CAPN3). Pulmonary function tests revealed neuromuscular respiratory weakness. Biceps femoris biopsy showed chronic myopathic changes, numerous lobulated fibers, and reduced calpain-3 immunoreactivity...
July 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29577809/spectrum-of-neuromuscular-disorders-with-hyperckemia-from-a-tertiary-care-pediatric-neuromuscular-center
#5
Fouad Al-Ghamdi, Basil T Darras, Partha S Ghosh
Elevated creatine kinase is a useful screening test in the diagnostic workup of patients with neuromuscular disorders. We did a retrospective study of children with hyperCKemia (>175 IU/L) who were followed in the neuromuscular program of a tertiary care pediatric center from 2005 to 2016. Patients with hyperCKemia were divided into 2 groups: myopathic and nonmyopathic. Within the myopathic group, there were 3 arbitrary subgroups based on creatine kinase values: A (creatine kinase >10 times normal), B (creatine kinase 5-10 times normal), and C (creatine kinase 1-5 times normal)...
May 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29473763/statin-induced-myalgia-and-myositis-an-update-on-pathogenesis-and-clinical-recommendations
#6
Albert Selva-O'Callaghan, Marcelo Alvarado-Cardenas, Iago Pinal-Fernández, Ernesto Trallero-Araguás, José Cesar Milisenda, María Ángeles Martínez, Ana Marín, Moisés Labrador-Horrillo, Cándido Juárez, Josep María Grau-Junyent
Musculoskeletal manifestations are well-recognized side effects of treatment with statins. New advances in this field have appeared in recent years. This review focuses on the diagnosis of these conditions and their underlying pathogenesis, in particular immune-mediated necrotizing myopathy. Areas covered: Clinical phenotypes including rhabdomyolysis, myalgia and/or mild hyperCKemia, self-limited toxin statin myopathy, and immune-mediated necrotizing myopathy are herein described. Therapeutic recommendations and a diagnostic algorithm in statin-associated myopathy are also proposed...
March 2018: Expert Review of Clinical Immunology
https://www.readbyqxmd.com/read/29382405/next-generation-sequencing-to-diagnose-muscular-dystrophy-rhabdomyolysis-and-hyperckemia
#7
Lily Wu, Lauren Brady, John Shoffner, Mark A Tarnopolsky
BACKGROUND: Neuromuscular disorders are a phenotypically and genotypically diverse group of diseases that can be difficult to diagnose accurately because of overlapping clinical features and nonspecific muscle pathology. Next-generation sequencing (NGS) is a high-throughput technology that can be used as a more time- and cost-effective tool for identifying molecular diagnoses for complex genetic conditions, such as neuromuscular disorders. METHODS: One hundred and sixty-nine patients referred to a Canadian neuromuscular clinic for evaluation of possible muscle disease were screened with an NGS panel of muscular dystrophy-associated genes...
January 31, 2018: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/29215735/vacuolated-pas-positive-lymphocytes-as-an-hallmark-of-pompe-disease-and-other-myopathies-related-to-impaired-autophagy
#8
Angelo Pascarella, Chiara Terracciano, Olimpia Farina, Luca Lombardi, Teresa Esposito, Filomena Napolitano, Giuseppina Franzese, Giovanni Panella, Francesco Tuccillo, Giancarlo la Marca, Sergio Bernardini, Silvia Boffo, Antonio Giordano, Giuseppe Di Iorio, Mariarosa A B Melone, Simone Sampaolo
Autosomal recessive Pompe disease is a lysosomal disorder caused by mutations of the acid-α-glucosidase (GAA) gene. Deficiency of GAA enzyme leads to glycogen accumulation and autophagy impairment in cardiac and skeletal muscles, but also in lymphocytes. Since an effective therapy is available, a rapid, sensitive, and specific test is crucial to early identify affected subjects. Number of lymphocytes containing PAS-positive vacuoles was evaluated on blood films from 72 consecutive adult patients with hyperckemia and/or muscle weakness, 13 genetically confirmed late-onset-Pompe-disease (LOPD) and 13 of their offspring...
August 2018: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29200081/pd-1-inhibitor-associated-myopathies-emerging-immune-mediated-myopathies
#9
Teerin Liewluck, Justin C Kao, Michelle L Mauermann
Programmed death-1 (PD-1) inhibitors are increasingly used in cancer immunotherapy. Various immune-related adverse events are reported, including infrequent individual case reports of myositis or rhabdomyolysis. The frequency and diagnostic spectrum of immune-related adverse events affecting skeletal muscle in PD-1 inhibitor-treated patients are unknown. We searched the Mayo Clinic Pharmacy database (2014-2016) to identify patients who developed myopathies during or after PD-1 inhibitor therapy. Among 654 cancer patients received PD-1 inhibitors (pembrolizumab=389; nivolumab=264; both=1), we identified 5 patients (pembrolizumab=5) with biopsy-proven myopathies (2 necrotizing myopathy, 1 early dermatomyositis, and 2 nonspecific myopathy)...
May 2018: Journal of Immunotherapy
https://www.readbyqxmd.com/read/29193480/rhabdomyolysis-and-fluctuating-asymptomatic-hyperckemia-associated-with-cacna1s-variant
#10
C Anandan, M A Cipriani, R S Laughlin, Z Niu, M Milone
BACKGROUND AND PURPOSE: CACNA1S encodes Cav 1.1, a voltage sensor for muscle excitation-contraction coupling, which activates the ryanodine receptor 1 (RYR1) leading to calcium release from the sarcoplasmic reticulum. CACNA1S mutations cause hypokalemic periodic paralysis, malignant hyperthermia and congenital myopathy. RYR1 mutations result in congenital myopathy, malignant hyperthermia and rhabdomyolysis. METHODS: The aim was to describe a novel phenotype associated with a CACNA1S variant at a site previously linked to hypokalemic periodic paralysis...
February 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29181627/pompe-disease-in-austria-clinical-genetic-and-epidemiological-aspects
#11
W N Löscher, M Huemer, T M Stulnig, P Simschitz, S Iglseder, C Eggers, H Moser, D Möslinger, M Freilinger, F Lagler, S Grinzinger, M Reichhardt, R E Bittner, W M Schmidt, U Lex, M Brunner-Krainz, S Quasthoff, J V Wanschitz
In this study, we performed a survey of infantile and late-onset Pompe disease (IOPD and LOPD) in Austria. Paediatric and neuromuscular centres were contacted to provide a set of anonymized clinical and genetic data of patients with IOPD and LOPD. The number of patients receiving enzyme replacement therapy (ERT) was obtained from the pharmaceutical company providing alglucosidase alfa. We found 25 patients in 24 families, 4 IOPD and 21 LOPD with a resulting prevalence of 1:350,914. The most frequent clinical manifestation in LOPD was a lower limb-girdle phenotype combined with axial weakness...
January 2018: Journal of Neurology
https://www.readbyqxmd.com/read/28952030/idiopathic-hyperckemia-and-malignant-hyperthermia-susceptibility
#12
Joilson M Santos, Pamela V Andrade, Leonardo Galleni, Mariz Vainzof, Claudia F R Sobreira, Beny Schmidt, Acary S B Oliveira, José L G Amaral, Helga C A Silva
PURPOSE: HyperCKemia is a persistent rise in serum creatine kinase (CK) levels of at least 1.5 times the normal value, as evidenced by a minimum of two measurements at 30-day intervals. One of the neuromuscular diseases associated with hyperCKemia is malignant hyperthermia (MH). This study investigated the susceptibility to MH in patients with hyperCKemia via in vitro contracture testing (IVCT) and a search of mutations in the RYR1 gene. METHODS: Patients in an MH centre were followed from 1997-2012, and their epidemiologic, clinical, and laboratory data were analyzed, including IVCT, muscle histochemical analysis, and next-generation sequencing molecular analysis...
December 2017: Canadian Journal of Anaesthesia, Journal Canadien D'anesthésie
https://www.readbyqxmd.com/read/28951071/insight-into-the-phenotype-of-infants-with-pompe-disease-identified-by-newborn-screening-with-the-common-c-32-13t-g-late-onset-gaa-variant
#13
Mugdha V Rairikar, Laura E Case, Lauren A Bailey, Zoheb B Kazi, Ankit K Desai, Kathryn L Berrier, Julie Coats, Rachel Gandy, Rebecca Quinones, Priya S Kishnani
OBJECTIVE: Newborn screening (NBS) has led to early diagnosis and early initiation of treatment for infantile onset Pompe Disease (IOPD). However, guidelines for management of late onset Pompe disease (LOPD) via NBS, especially with the IVS c.-32-13T>G are not clear. This IVS variant is noted in 68-90% cases with LOPD and has been presumed to result in "adult" disease in compound heterozygosity, with a few cases with earlier onset and a mild to no phenotype in homozygosity...
November 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28894550/evaluation-prevalence-of-pompe-disease-in-iranian-patients-with-myopathies-of-unknown-etiology
#14
Khadijeh Haji Naghi Tehrani, Elmira Sakhaeyan, Elnaz Sakhaeyan
BACKGROUND: Pompe disease is a rare but potentially treatable metabolic disorder having an estimated worldwide incidence of one in forty thousand live births. While the introduction of enzyme replacement therapy (ERT) has considerably increased the awareness of the disease, the delay in diagnosis is still consistent and most patients go undetected. OBJECTIVE: This study aimed to determine the prevalence of late-onset Pompe disease (LOPD) in a high-risk population, using dried blood spot (DBS) as a main screening tool...
July 2017: Electronic Physician
https://www.readbyqxmd.com/read/28888072/characterization-of-isolated-amyloid-myopathy
#15
T Liewluck, M Milone
BACKGROUND AND PURPOSE: Amyloid myopathy frequently occurs in the setting of systemic amyloidosis and less commonly in isolation (isolated amyloid myopathy). Anoctaminopathy-5 and dysferlinopathy were recently recognized as causes of isolated amyloid myopathy. The present study aimed to characterize the isolated amyloid myopathy and to compare it with amyloid myopathy associated with systemic amyloidosis. METHODS: We searched the Muscle Laboratory database to identify patients with pathologically confirmed amyloid myopathy seen in neurology clinics between January 1998 and September 2016...
December 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28576279/-atypical-reaction-to-anesthesia-in-duchenne-becker-muscular-dystrophy
#16
Helga Cristina Almeida da Silva, Marcia Hiray, Mariz Vainzof, Beny Schmidt, Acary Souza Bulle Oliveira, José Luiz Gomes do Amaral
BACKGROUND AND OBJECTIVES: Duchenne/Becker muscular dystrophy affects skeletal muscles and leads to progressive muscle weakness and risk of atypical anesthetic reactions following exposure to succinylcholine or halogenated agents. The aim of this report is to describe the investigation and diagnosis of a patient with Becker muscular dystrophy and review the care required in anesthesia. CASE REPORT: Male patient, 14 years old, referred for hyperCKemia (chronic increase of serum creatine kinase levels - CK), with CK values of 7,779-29,040IU...
May 30, 2017: Revista Brasileira de Anestesiologia
https://www.readbyqxmd.com/read/28561176/-early-diagnosis-of-chorea-acanthocytosis-orofacial-dyskinesia-epileptic-seizures-and-hyperckemia
#17
Christian Schneider, Adrian Danek, Arwed Hostmann, Gereon R Fink, Lothar Burghaus
Chorea-acanthocytosis is an uncommon neurodegenerative disorder. Early diagnosis is often challenging. The triad of orofacial dyskinesia, epileptic seizures, and hyperCKemia should alert neurologists of a neuroacanthocytosis syndrome. The diagnosis can be confirmed by detection of chorein deficiency or through molecular genetics (VPS13A mutation).
May 2017: Fortschritte der Neurologie-Psychiatrie
https://www.readbyqxmd.com/read/28554557/screening-for-pompe-disease-in-a-portuguese-high-risk-population
#18
MULTICENTER STUDY
Vânia Almeida, Isabel Conceição, Isabel Fineza, Teresa Coelho, Fernando Silveira, Manuela Santos, Ana Valverde, Argemiro Geraldo, Ricardo Maré, Teresa Carolina Aguiar, Carla Mendonça, João Martins, Luísa Medeiros, Cândida Barroso, José Pedro Vieira, Teresa Moreno, Luis Negrão, Margarida Silva Dias, Lúcia Lacerda, Teresinha Evangelista
Pompe disease is a rare metabolic disorder with available enzymatic replacement therapy. Contrasting with the classic infantile form, the others subtypes have a heterogeneous presentation that makes an early and accurate diagnosis difficult. We conducted a prospective, multicenter, observational study to identify undiagnosed patients. During a one-year period, patients followed in Portuguese neuromuscular outpatient clinics with proximal muscle weakness affecting upper and/or lower limbs, hyperCKemia in two or more determinations or hypotonia and hyperCKemia, were screened for acid α-glucosidase deficiency by dried blood spots...
August 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28515033/acanthocytosis-and-hyperckemia
#19
Uluç Yiş, Kerstin Becker, Şebnem Yılmaz Bengoa, Sebahattin Çırak
No abstract text is available yet for this article.
May 17, 2017: Turkish Journal of Haematology: Official Journal of Turkish Society of Haematology
https://www.readbyqxmd.com/read/28489146/acute-muscular-weakness-in-children
#20
REVIEW
Ricardo Pablo Javier Erazo Torricelli
Acute muscle weakness in children is a pediatric emergency. During the diagnostic approach, it is crucial to obtain a detailed case history, including: onset of weakness, history of associated febrile states, ingestion of toxic substances/toxins, immunizations, and family history. Neurological examination must be meticulous as well. In this review, we describe the most common diseases related to acute muscle weakness, grouped into the site of origin (from the upper motor neuron to the motor unit). Early detection of hyperCKemia may lead to a myositis diagnosis, and hypokalemia points to the diagnosis of periodic paralysis...
April 2017: Arquivos de Neuro-psiquiatria
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