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HyperCKemia

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https://www.readbyqxmd.com/read/29382405/next-generation-sequencing-to-diagnose-muscular-dystrophy-rhabdomyolysis-and-hyperckemia
#1
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
#2
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, Mariarosa Anna Beatrice Melone, Giuseppe Di Iorio, 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...
December 7, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29200081/pd-1-inhibitor-associated-myopathies-emerging-immune-mediated-myopathies
#3
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)...
December 1, 2017: Journal of Immunotherapy
https://www.readbyqxmd.com/read/29193480/rhabdomyolysis-and-fluctuating-asymptomatic-hyperckemia-associated-with-cacna1s-variant
#4
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...
November 29, 2017: 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
#5
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...
November 27, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28952030/idiopathic-hyperckemia-and-malignant-hyperthermia-susceptibility
#6
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
#7
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. Our study evaluates newborns with LOPD having IVS variant with a diligent multidisciplinary approach to determine if they have an early presentation...
September 19, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28894550/evaluation-prevalence-of-pompe-disease-in-iranian-patients-with-myopathies-of-unknown-etiology
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
https://www.readbyqxmd.com/read/28433475/targeted-population-screening-of-late-onset-pompe-disease-in-unspecified-myopathy-patients-for-korean-population
#15
Jung Hwan Lee, Jin-Hong Shin, Hyung Jun Park, Sook Za Kim, Young Mi Jeon, Hye Kyoung Kim, Dae-Seong Kim, Young-Chul Choi
We performed targeted population screening of late onset Pompe disease (LOPD) in unspecified myopathy patients, because early diagnosis is difficult due to its heterogeneous clinical features. We prospectively enrolled 90 unrelated myopathic patients who had one or more signs out of five LOPD-like clinical findings (proximal weakness, axial weakness, lingual weakness, respiratory difficulty, idiopathic hyperCKemia). Acid alpha glucosidase activity was evaluated with dried blood spot and mixed leukocyte simultaneously...
June 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28268226/hyperckemia-instead-of-hyperkalemia-in-chorea-acanthocytosis
#16
Adrian Danek, Ruth H Walker
No abstract text is available yet for this article.
2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/28221303/a-case-of-asymptomatic-inclusion-body-myositis
#17
Rey Bello, Tulio Bertorini, Kartheek Ganta, William Mays
OBJECTIVES: To present a case of asymptomatic inclusion body myositis. METHODS: The authors report a case of a 67-year-old man who presented with idiopathic hyperCKemia. Physical examination including a complete neurological evaluation was unremarkable. Systemic causes of hyperCKemia, including medication side effects, metabolic and endocrine disorders, and connective tissue disorders, were ruled out with various indicated tests. RESULTS: Two and a half years after initial consultation, the patient reported left knee pain...
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28187523/hyperckemia-and-myalgia-are-common-presentations-of-anoctamin-5-related-myopathy-in-french-patients
#18
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 anoctamin-5 (ANO5) mutations may present not only with limb-girdle muscular dystrophy type 2L or adult-onset Miyoshi-type myopathy but also with asymptomatic hyperCKemia, exercise intolerance, or rhabdomyolysis. MATERIALS AND METHODS: Data from 38 patients in France with ANO5 mutations with and without muscle weakness on first examination were compared. RESULTS: Twenty patients presented without muscle weakness...
February 10, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28172934/p348-persistent-hyperckemia-during-infliximab-therapy-in-patients-with-inflammatory-bowel-disease
#19
E Theodoraki, E Orfanoudaki, K Foteinogiannopoulou, I Koutroubakis
No abstract text is available yet for this article.
February 1, 2017: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/28123712/asymptomatic-hyperckemia-during-a-two-year-monitoring-period-a-case-report-and-literature-overview
#20
Spyridon Klinis, Athanasios Symeonidis, Dimitrios Karanasios, Emmanouil K Symvoulakis
High creatine kinase (CK) levels can be associated with many disorders, including neuromuscular, cardiac, metabolic, endocrine and traumatic. Idiopathic hyperCKemia is a diagnostic dilemma for physicians even though its long-term prognosis is usually benign. We report a case of a Caucasian 61-year-old woman who presented as completely asymptomatic to her general practitioner with a serum CK (sCK) level at 6,122 IU/l. A complete diagnostic evaluation, including physical and laboratory examinations, electromyogram and muscle biopsy were negative for any neuromuscular or other disorder...
January 2017: Biomedical Reports
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