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HyperCKemia

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https://www.readbyqxmd.com/read/28268226/hyperckemia-instead-of-hyperkalemia-in-chorea-acanthocytosis
#1
Adrian Danek, Ruth H Walker
No abstract text is available yet for this article.
March 7, 2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/28221303/a-case-of-asymptomatic-inclusion-body-myositis
#2
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-a-common-presentation-of-anoctamin-5-ano5-related-myopathy-in-french-patients
#3
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 ANO5 mutations may present not only limb-girdle muscular dystrophy type 2L or adult-onset Miyoshi-type myopathy but also with asymptomatic hyperCKemia, exercise intolerance, or rhabdomyolysis. Materials/Methods Data from 38 in France with ANO5 mutations with and without muscle weakness on first examination were compared. Results Twenty patients presented without muscle weakness. Median age at symptom onset or discovery of hyperCKemia was 23 years. Creatine kinase (CK) levels ranged from 200 to 40,000 U/L...
February 10, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28172934/p348-persistent-hyperckemia-during-infliximab-therapy-in-patients-with-inflammatory-bowel-disease
#4
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
#5
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
https://www.readbyqxmd.com/read/28109638/myasthenia-triggered-by-immune-checkpoint-inhibitors-new-case-and-literature-review
#6
Natalia L Gonzalez, Araya Puwanant, Angela Lu, Stanley M Marks, Saša A Živković
Immune checkpoint molecules are potent regulators of immunologic homeostasis that prevent the development of autoimmunity while maintaining self-tolerance. Inhibitors of immune checkpoint molecules are used as immunotherapy in the treatment of melanoma and different types of refractory cancer, and can trigger various autoimmune complications including myositis and myasthenia gravis. We describe a case of generalized myasthenia gravis induced by pembrolizumab and review 11 other cases. Five patients also had elevated serum CK levels ranging from 1200 to 8729 IU/L, and biopsy showed myositis in one...
March 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28099331/atorvastatin-induced-necrotizing-autoimmune-myositis-an-emerging-dominant-entity-in-patients-with-autoimmune-myositis-presenting-with-a-pure-polymyositis-phenotype
#7
Yves Troyanov, Océane Landon-Cardinal, Marvin J Fritzler, José Ferreira, Ira N Targoff, Eric Rich, Michelle Goulet, Jean-Richard Goulet, Josiane Bourré-Tessier, Yves Robitaille, Julie Drouin, Alexandra Albert, Jean-Luc Senécal
The general aim of this study was to evaluate the disease spectrum in patients presenting with a pure polymyositis (pPM) phenotype. Specific objectives were to characterize clinical features, autoantibodies (aAbs), and membrane attack complex (MAC) in muscle biopsies of patients with treatment-responsive, statin-exposed necrotizing autoimmune myositis (NAM). Patients from the Centre hospitalier de l'Université de Montréal autoimmune myositis (AIM) Cohort with a pPM phenotype, response to immunosuppression, and follow-up ≥3 years were included...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27922494/approach-to-the-patient-with-hyperckemia
#8
Shannon L Venance
PURPOSE OF REVIEW: Neurologists commonly receive consultation requests regarding the evaluation of patients with an elevated serum creatine kinase (CK), a condition known as hyperCKemia. This article outlines an approach to the history and examination of patients with hyperCKemia in order to narrow the localization and differential of an elevated CK and guide possible next steps. This article aims to help clinicians identify treatable or reversible etiologies as well as those that will change management...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27772553/cav3-mutation-in-a-patient-with-transient-hyperckemia-and-myalgia
#9
Anna Macias, Tomasz Gambin, Przemyslaw Szafranski, Shalini N Jhangiani, Anna Kolasa, Ewa Obersztyn, James R Lupski, Pawel Stankiewicz, Anna Kaminska
Mutations in caveolin-3 (CAV3) can lead to different clinical phenotypes affecting skeletal or cardiac muscles. Here, we describe a patient with Klinefelter syndrome, ulcerative colitis and Sjögren syndrome, who developed transient hyperCKemia, myalgia and mild muscular weakness. Using whole exome sequencing (WES), a missense mutation G169A was found in the CAV3 gene. In addition, we identified a homozygous frameshift deletion in MS4A12 that may contribute to inflammatory bowel disease, further demonstrating usefulness of WES in dual molecular diagnoses...
November 2016: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/27666774/the-frequency-of-late-onset-pompe-disease-in-pediatric-patients-with-limb-girdle-muscle-weakness-and-nonspecific-hyperckemia-a-multicenter-study
#10
Olcay Ünver, Nilüfer Eldeş Hacıfazlıoğlu, Elif Karatoprak, Ayfer Sakarya Güneş, Güneş Sağer, Büşra Kutlubay, Gülhan Sözen, Sema Saltık, Kutluhan Yılmaz, Bülent Kara, Dilşad Türkdoğan
The aim of this multicenter study was to screen for late-onset Pompe disease in high-risk children with limb-girdle muscle weakness and nonspecific hyperCKemia using the dried blood spot (DBS) test. Seventy-two children from four pediatric neurology departments in Turkey were enrolled in the study: 37 with limb-girdle muscle weakness and 35 with nonspecific hyperCKemia. Acid α-glucosidase (GAA) activity was measured on DBS by tandem mass spectrometry. Six patients tested positively for Pompe disease. In three patients, one with the limb-girdle muscle weakness and two with nonspecific hyperCKemia, this was confirmed by genetic analysis...
September 6, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27612597/phosphoglycerate-mutase-deficiency-glycogen-storage-disease-x-caused-by-a-novel-variant-in-pgam-m
#11
Benjamin Koo, Bjorn Oskarsson
Phosphoglycerate mutase enzyme deficiency in muscle causes a metabolic myopathy (glycogen storage disease X) characterized by exertional muscle contractures, weakness, hyperCKemia, and myoglobinuria. Six different autosomal recessive variants in PGAM-M have been described thus far (Salameh et al., 2013). In this case report, we report a novel disease-causing variant. A 52-year-old African-American woman presented with exertional muscle contractures, myalgias, and weakness since childhood including an episode of rhabdomyolysis...
October 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27312022/cav3-mutations-causing-exercise-intolerance-myalgia-and-rhabdomyolysis-expanding-the-phenotypic-spectrum-of-caveolinopathies
#12
Renata Siciliani Scalco, Alice R Gardiner, Robert D S Pitceathly, David Hilton-Jones, Anthony H Schapira, Chris Turner, Matt Parton, Mahalekshmi Desikan, Rita Barresi, Julie Marsh, Adnan Y Manzur, Anne-Marie Childs, Lucy Feng, Elaine Murphy, Phillipa J Lamont, Gianina Ravenscroft, William Wallefeld, Mark R Davis, Nigel G Laing, Janice L Holton, Doreen Fialho, Kate Bushby, Michael G Hanna, Rahul Phadke, Heinz Jungbluth, Henry Houlden, Ros Quinlivan
Rhabdomyolysis is often due to a combination of environmental trigger(s) and genetic predisposition; however, the underlying genetic cause remains elusive in many cases. Mutations in CAV3 lead to various neuromuscular phenotypes with partial overlap, including limb girdle muscular dystrophy type 1C (LGMD1C), rippling muscle disease, distal myopathy and isolated hyperCKemia. Here we present a series of eight patients from seven families presenting with exercise intolerance and rhabdomyolysis caused by mutations in CAV3 diagnosed by next generation sequencing (NGS) (n = 6)...
August 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27199542/rhabdomyolysis-in-hyponatremia-and-paraneoplastic-syndrome-of-inappropriate-antidiuresis
#13
Elisabetta D'Adda, Rosina Paletta, Fabio Brusaferri, Antonio Cagnana, Maria Teresa Ferrò, Michele Gennuso, Isabella Ghione, Riccardo Saponara, Alessandro Prelle
We report a 26-year-old woman admitted to our hospital for generalized tonic seizure. Laboratory investigations revealed severe hyponatremia possibly triggered by vomiting and diarrhea. 24 hours after correction of hyponatremia she developed diffuse myalgias and marked hyperCKemia. Syndrome of inappropriate antidiuresis (SIAD) was suspected as cause of hyponatremia. Abnormal vaginal bleeding prompts gynecological evaluation and a small-cell carcinoma of uterine cervix was detected.
December 2015: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/27170567/prevalence-of-pompe-disease-in-3-076-patients-with-hyperckemia-and-limb-girdle-muscular-weakness
#14
Zoltan Lukacs, Paulina Nieves Cobos, Stephan Wenninger, Tracey A Willis, Michela Guglieri, Marc Roberts, Rosaline Quinlivan, David Hilton-Jones, Teresinha Evangelista, Stephan Zierz, Beate Schlotter-Weigel, Maggie C Walter, Peter Reilich, Thomas Klopstock, Marcus Deschauer, Volker Straub, Wolfgang Müller-Felber, Benedikt Schoser
OBJECTIVE: We prospectively screened a large European cohort of patients presenting with hyperCKemia and/or limb-girdle muscular weakness (LGMW) for acid α-glucosidase (GAA) deficiency by dried blood spot (DBS) investigation. METHODS: DBS were collected from 3,076 consecutive adult patients from 7 German and British neuromuscular centers. All specimens were investigated for GAA deficiency by fluorometry. Samples with reduced enzyme activity were subsequently investigated for GAA gene mutations...
July 19, 2016: Neurology
https://www.readbyqxmd.com/read/27066575/lgmd-phenotype-due-to-a-new-gene-and-dysferlinopathy-investigated-by-next-generation-sequencing
#15
Corrado I Angelini
In this issue of Neurology® Genetics, Endo et al.(1) report 3 cases of limb-girdle muscular dystrophy (LGMD) phenotype with mental retardation or hyperCKemia found by next-generation sequencing (NGS) to have a variant in the POMGNT2 gene, which has so far been recognized only as causing congenital muscular dystrophy (CMD).
December 2015: Neurology. Genetics
https://www.readbyqxmd.com/read/27061274/calf-hypertrophy-and-gastrocnemius-mri-short-tau-inversion-recovery-stir-hyperintensity-in-a-patient-with-asymptomatic-hyperckemia-caused-by-caveolin-3-gene-mutation
#16
Dimitri Renard, Florence Erny, Dominique Figarella-Branger, Martin Krahn
No abstract text is available yet for this article.
April 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/26632398/clinical-and-pathological-heterogeneity-of-korean-patients-with-capn3-mutations
#17
Hyung Jun Park, Hoon Jang, Jung Hwan Lee, Ha Young Shin, Sung Rae Cho, Kee Duk Park, Duhee Bang, Min Goo Lee, Seung Min Kim, Ji Hyun Lee, Young Chul Choi
PURPOSE: This study was designed to investigate the characteristics of Korean patients with calpainopathy. MATERIALS AND METHODS: Thirteen patients from ten unrelated families were diagnosed with calpainopathy via direct or targeted sequencing of the CAPN3 gene. Clinical, mutational, and pathological spectra were then analyzed. RESULTS: Nine different mutations, including four novel mutations (NM_000070: c.1524+1G>T, c.1789_1790inA, c.2184+1G>T, and c...
January 2016: Yonsei Medical Journal
https://www.readbyqxmd.com/read/26538850/multisystem-involvement-in-neuromyelitis-optica
#18
Megan M Langille, Jay Desai
We describe a case of pediatric neuromyelitis optica (NMO) with muscle and lung involvement in addition to central nervous system disease. Our patient initially presented with features of area postrema syndrome, then subsequently with optic neuritis. The patient also had recurrent hyperCKemia that responded to corticosteroids. Finally, axillary and hilar adenopathy with pulmonary consolidation were noted as well and responded to immunomodulation. Our case highlights multisystem involvement in NMO including non-infectious pulmonary findings which have not been described in the pediatric population previously...
September 2015: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/26453141/alpha-sarcoglycanopathy-presenting-as-exercise-intolerance-and-rhabdomyolysis-in-two-adults
#19
M Tarnopolsky, E Hoffman, M Giri, J Shoffner, L Brady
Two patients with exercise-induced myalgias and rhabdomyolysis with myoglobinuria were evaluated with muscle biopsy and comprehensive myopathy next generation sequencing (NGS) gene panels. Genetic analysis revealed homozygosity for two known pathogenic SGCA mutations (R284C in Patient 1 and V247M in Patient 2). Muscle biopsy showed minimal changes with normal immunohistochemistry for α-sarcoglycan. Western blotting showed 27% and 35% of normal α-sarcoglycan immunoreactivity when compared to age matched controls, confirming the diagnosis of α-sarcoglycanopathy in both patients...
December 2015: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/26185955/caveolinopathies-in-greece
#20
Constantinos Papadopoulos, George K Papadimas, Kyriaki Kekou, Konstantinos Spengos, Maria Svigou, Sofia Kitsiou-Tzeli, Panagiota Manta
INTRODUCTION: Mutations in the CAV3 gene are usually inherited in an autosomal dominant manner and lead to distinct disorders including limb-girdle muscular dystrophy 1C, rippling muscle disease, and isolated creatine kinase elevation. PATIENTS AND METHODS: The features of the first patients with caveolin-3 deficiency from Greece are presented. Patients' phenotypes ranged from asymptomatic creatine kinase elevation to severe weakness of lower extremities. Clinical evaluation disclosed muscle hypertrophy in 2 patients, whereas percussion-induced muscle mounding was a consistent finding in all of them...
July 2015: Neurologist
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