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Creatine disorders

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https://www.readbyqxmd.com/read/28209627/characterization-of-a-blood-spot-creatine-kinase-skeletal-muscle-isoform-immunoassay-for-high-throughput-newborn-screening-of-duchenne-muscular-dystrophy
#1
Stuart J Moat, Teemu Korpimäki, Petra Furu, Harri Hakala, Hanna Polari, Liisa Meriö, Pauliina Mäkinen, Ian Weeks
BACKGROUND: Duchenne muscular dystrophy (DMD) is a progressive, lethal X-linked neuromuscular disorder with an average worldwide incidence of 1:5000. Blood spot creatine kinase (CK) enzyme assays previously used in newborn screening programs for DMD are nonspecific because measured CK enzyme activity is attributable to 3 isoenzyme forms of CK (CK-MM, CK-MB, and CK-BB) and it is the CK-MM isoform that is found predominantly in skeletal muscle. CK-MM is increased in boys with DMD owing to muscle damage...
February 16, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28207527/zhibitai-and-low-dose-atorvastatin-reduce-blood-lipids-and-inflammation-in-patients-with-coronary-artery-disease
#2
Yuhong Zhao, Ran Peng, Wang Zhao, Qiong Liu, Yuan Guo, Shuiping Zhao, Danyan Xu
BACKGROUND: Atorvastatin decreases blood lipids but is associated with side effects. Zhibitai is a traditional Chinese medicine used to treat blood lipid disorders. The objective of this study is to evaluate the lipid-lowering effect, antiinflammatory effect, and adverse events of zhibitai combined to atorvastatin in patients with coronary heart diseases (CHDs). METHODS: Patients with CHD (n = 150) were randomized to: zhibitai 480 mg + atorvastatin 10 mg (ZA10 group), atorvastatin 20 mg (A20 group), and atorvastatin 40 mg (A40 group)...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28207428/il-37-ameliorates-coxsackievirus-b3-induced-viral-myocarditis-by-modulating-the-th17-treg-immune-response
#3
Bang An, Xuefei Liu, Ge Li, Haitao Yuan
Myocarditis is a heterogeneous group of disorders defined by inflammation of the heart muscle with an excessively activated immune response. Numerous interventions have been investigated for the treatment of myocarditis while success is limited. Interleukin-37 (IL-37), a novel member of the IL-1 cytokine family, is a natural inhibitor of innate immunity associated with autoimmune diseases. However, the modulatory effect of IL-37 in myocarditis is unknown. In this study, we investigated the immunological regulation of IL-37 in the coxsackievirus B3-induced model of murine viral myocarditis...
February 14, 2017: Journal of Cardiovascular Pharmacology
https://www.readbyqxmd.com/read/28201858/prominent-subcutaneous-oedema-as-a-masquerading-symptom-of-an-underlying-inflammatory-myopathy
#4
Anthea Anantharajah, Steve Vucic, Surjit Tarafdar, Roslyn Vongsuvanh, Nicholas Wilcken, Sanjay Swaminathan
The inflammatory myopathies are a group of immune-mediated inflammatory muscle disorders that typically present with marked proximal muscle weakness. We report four cases of inflammatory myopathies with marked subcutaneous oedema as their main complaint. Three of the four patients had normal or low levels of creatine kinase, an enzyme often markedly elevated in these disorders. Magnetic resonance imaging of the muscles, followed by a muscle biopsy were used to make a definitive diagnosis.
February 2017: Internal Medicine Journal
https://www.readbyqxmd.com/read/28165547/effects-of-methylphenidate-treatment-on-the-cerebellum-in-adult-attention-deficit-hyperactivity-disorder-a-magnetic-resonance-spectroscopy-study
#5
A N Inci Kenar, G A Unal, Y Kiroglu, H Herken
OBJECTIVE: This study investigated the relationship between the use of methylphenidate (MPH) and changes in creatine, choline, and N-acetyl-aspartate (NAA) in the dorsolateral prefrontal cortex (DLPFC), striatum, cerebellum, and anterior cingulate cortex (ACC) in adults with attention-deficit hyperactivity disorder (ADHD). PATIENTS AND METHODS: The study enrolled 60 patients 18-60 years of age who met the criteria in the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV) for ADHD...
January 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/28157257/compound-heterozygous-pomt1-mutations-in-a-chinese-family-with-autosomal-recessive-muscular-dystrophy-dystroglycanopathy-c1
#6
Pengzhi Hu, Song Wu, Lamei Yuan, Qiongfen Lin, Wen Zheng, Hong Xia, Hongbo Xu, Liping Guan, Hao Deng
Muscular dystrophy-dystroglycanopathy (MDDG) is a genetically and clinically heterogeneous group of muscular disorders, characterized by congenital muscular dystrophy or later-onset limb-girdle muscular dystrophy accompanied by brain and ocular abnormalities, resulting from aberrant alpha-dystroglycan glycosylation. Exome sequencing and Sanger sequencing were performed on a six-generation consanguineous Han Chinese family, members of which had autosomal recessive MDDG. Compound heterozygous mutations, c.1338+1G>A (p...
February 3, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28148286/fifteen-year-follow-up-of-italian-families-affected-by-arginine-glycine-amidinotransferase-deficiency
#7
Roberta Battini, M Grazia Alessandrì, Claudia Casalini, Manuela Casarano, Michela Tosetti, Giovanni Cioni
BACKGROUND: Arginine:glycine amidinotransferase deficiency (AGAT-d) is a very rare inborn error of creatine synthesis mainly characterized by absence of brain Creatine (Cr) peak, intellectual disability, severe language impairment and behavioural disorder and susceptible to supplementary Cr treatment per os. Serial examinations by magnetic resonance spectroscopy are required to evaluate Cr recovery in brain during treatment of high doses of Cr per os, which have been proved beneficial and effective in treating main clinical symptoms...
February 2, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28141725/acute-agitation-and-self-injury-in-a-5-year-old-with-autism
#8
Jason Schweitzer, Christine James, Willough Jenkins, Michael I Reiff, Martin T Stein
A 5-year-old nonverbal child with autism spectrum disorder (ASD) was admitted to inpatient pediatrics with new onset agitation and self-injurious behavior. His parents described him as a pleasant child without previous episodes of self-injury. Four days before admission, the parents noted new irritability followed by 2 days of self-injury to the face without clear precipitant. His hitting intensified with closed fist to face, and he required parental physical restraint to prevent further injury. Car rides and ibuprofen provided only temporary relief...
February 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28135835/clinical-use-of-nutraceuticals-in-the-adjunctive-treatment-of-depression-in-mood-disorders
#9
Jerome Sarris
OBJECTIVES: The aim of this paper is to detail a summary of the current evidence in this area, to better inform clinical practice. Our recent systematic reviews and meta-analyses of nutrient pharmacotherapies in the treatment unipolar depression revealed primarily positive results for replicated studies testing S-adenosyl methionine (SAMe), methylfolate, omega-3 (EPA or ethyl-EPA), and Vitamin D; with supportive isolated studies found for creatine and an amino acid combination. Mixed results were found for zinc, folic acid, Vitamin C, and tryptophan; and non-significant study results for inositol...
January 1, 2017: Australasian Psychiatry: Bulletin of Royal Australian and New Zealand College of Psychiatrists
https://www.readbyqxmd.com/read/28126615/a-comparison-of-neurometabolites-between-remitted-bipolar-disorder-and-depressed-bipolar-disorder-a-proton-magnetic-resonance-spectroscopy-study
#10
Tao Liu, Ying Wang, Shuming Zhong, Bing Wang, Xiaoxiao Liao, Shunkai Lai, Yanbin Jia
BACKGROUND: Recent many studies found the abnormal neurometabolites in the acute bipolar disorder (BD). However, limited studies were to detect neurometabolites in remitted BD, comparison between acute and remitted BD is conductive to understand the outcome of neurometabolites. This study sought to investigate the differences in neurometabolites between remitted and depressed BD patients using proton magnetic resonance spectroscopy ((1)H-MRS). METHODS: Three subject groups were enrolled: 22 remitted BD patients, 22 depressed BD patients and 24 healthy controls...
March 15, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28125404/bone-mineral-density-and-bone-metabolic-markers-status-in-children-with-neurofibromatosis-type-1
#11
Hatice Gamze Poyrazoğlu, Veysel Nijat Baş, Alev Arslan, Funda Bastug, Mehmet Canpolat, Hüseyin Per, Hakan Gümüs, Sefer Kumandas
BACKGROUND: Neurofibromatosis type 1 (NF1) is a multisystem disorder characterized by progressive manifestations, which is inherited in an autosomal dominant manner. The majority of patients with NF1 experience a diffuse, significant reduction in bone mass over time, with osteoporosis, osteopenia in the absence of severe scoliosis, or gross bone deformities. This study aimed to determine the bone mineral density (BMD) status, evaluate bone metabolism, and to determine the relevant factors in children with NF1...
February 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28123712/asymptomatic-hyperckemia-during-a-two-year-monitoring-period-a-case-report-and-literature-overview
#12
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/28092839/effect-and-mechanism-of-sorbus-pohuashanensis-hante-hedl-flavonoids-protect-against-arsenic-trioxide-induced-cardiotoxicity
#13
Xiaojin Yu, Zhenyu Wang, Zunpeng Shu, Zhengqing Li, Yuan Ning, Keli Yun, Haina Bai, Ruihai Liu, Wenli Liu
The cardiotoxicity of arsenic trioxide (ATO) limits its clinical application in cancer treatment. Evidences suggest that sorbus has antioxidant activity and its consumption has been linked with improved cardioprotection. In this study, we investigated the cardio-protective effect and mechanisms of Sorbus pohuashanensis (Hante) Hedl. flavonoids (SPF) against ATO in BALB/c mice and H9c2 cells. Eleven major flavonoids were confirmed by ultra-performance liquid chromatography electrospray ionization quadrupole time of flight mass spectrometry (UPLC-ESI-Q-TOF-MS)...
January 13, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28079862/extra-neuronal-pathology-in-a-canine-model-of-cln2-neuronal-ceroid-lipofuscinosis-after-intracerebroventricular-gene-therapy-that-delays-neurological-disease-progression
#14
M L Katz, G C Johnson, S B Leach, B G Williamson, J R Coates, R E H Whiting, D P Vansteenkiste, M S Whitney
CLN2 neuronal ceroid lipofuscinosis is a hereditary lysosomal storage disease with primarily neurological signs that results from mutations in TPP1 which encodes the lysosomal enzyme tripeptidyl peptidase-1 (TPP1). Studies using a canine model for this disorder demonstrated that delivery of TPP1 enzyme to the cerebrospinal fluid (CSF) by intracerebroventricular administration of an AAV-TPP1 vector resulted in substantial delays in the onset and progression of neurological signs and prolongation of lifespan...
January 12, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28075425/management-of-fibromyalgia-practical-guides-from-recent-evidence-based-guidelines
#15
Winfried Häuser, Jacob Ablin, Serge Perrot, Mary-Ann Fitzcharles
Fibromyalgia (FM) is a prevalent and costly condition worldwide, affecting approximately 2% of the general population. Recent evidence- and consensus‑based guidelines from Canada, Germany, Israel, and the European League Against Rheumatism aim to support physicians in achieving a comprehensive diagnostic workup of patients with chronic widespread (generalized) pain (CWP) and to assist patients and physicians in shared decision making on treament options. Every patient with CWP requires, at the first medical evaluation, a complete history, medical examination, and some laboratory tests (complete blood count, measurement of C‑reactive protein, serum calcium, creatine phosphokinase, thyroid‑stimulating hormone, and 25‑hydroxyvitamin D levels) to screen for metabolic or inflammatory causes of CWP...
January 4, 2017: Polskie Archiwum Medycyny Wewnętrznej
https://www.readbyqxmd.com/read/28069926/creatine-enhances-mitochondrial-mediated-oligodendrocyte-survival-after-demyelinating-injury
#16
Kelly A Chamberlain, Kristen S Chapey, Sonia E Nanescu, Jeffrey K Huang
Chronic oligodendrocyte loss, which occurs in the demyelinating disorder multiple sclerosis (MS), contributes to axonal dysfunction and neurodegeneration. Current therapies are able to reduce MS severity, but do not prevent transition into the progressive phase of the disease, which is characterized by chronic neurodegeneration. Therefore, pharmacological compounds that promote oligodendrocyte survival could be beneficial for neuroprotection in MS. Here, we investigated the role of creatine, an organic acid involved in adenosine triphosphate (ATP) buffering, in oligodendrocyte function...
February 8, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28065824/variable-white-matter-atrophy-and-intellectual-development-in-a-family-with-x-linked-creatine-transporter-deficiency-despite-genotypic-homogeneity
#17
Nicole Heussinger, Marc Saake, Angelika Mennecke, Helmuth-Günther Dörr, Regina Trollmann
BACKGROUND: The X-linked creatine transporter deficiency (CRTD) caused by an SLC6A8 mutation represents the second most common cause of X-linked intellectual disability. The clinical phenotype ranges from mild to severe intellectual disability, epilepsy, short stature, poor language skills, and autism spectrum disorders. The objective of this study was to investigate phenotypic variability in the context of genotype, cerebral creatine concentration, and volumetric analysis in a family with CRTD...
October 17, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/28063409/tinospora-cordifolia-extract-attenuates-cadmium-induced-biochemical-and-histological-alterations-in-the-heart-of-male-wistar-rats
#18
Lohanathan Bharathi Priya, Rathinasamy Baskaran, Pitchai Elangovan, Velumani Dhivya, Chih-Yang Huang, Viswanadha Vijaya Padma
Persistence of cadmium (Cd) in the environment causes serious ecological problems. Tinospora cordifolia is a medicinal herb used in Ayurveda for treating various metabolic disorders and toxic conditions. The present study investigates the protective effect of T. cordifolia stem methanolic extract (TCME) on a heavy metal, Cd-induced cardiotoxicity in male Wistar rats. Male albino Wistar rats were divided into four groups (n=6). The animals after treatment for 28days with Cd and TCME were analysed for biochemical and histological changes in the serum and heart tissues...
January 4, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28060873/assessment-of-anterior-cingulate-cortex-acc-and-left-cerebellar-metabolism-in-asperger-s-syndrome-with-proton-magnetic-resonance-spectroscopy-mrs
#19
Aya Goji, Hiromichi Ito, Kenji Mori, Masafumi Harada, Sonoka Hisaoka, Yoshihiro Toda, Tatsuo Mori, Yoko Abe, Masahito Miyazaki, Shoji Kagami
PURPOSE: Proton magnetic resonance spectroscopy (1H MRS) is a noninvasive neuroimaging method to quantify biochemical metabolites in vivo and it can serve as a powerful tool to monitor neurobiochemical profiles in the brain. Asperger's syndrome (AS) is a type of autism spectrum disorder, which is characterized by impaired social skills and restrictive, repetitive patterns of interest and activities, while intellectual levels and language skills are relatively preserved. Despite clinical aspects have been well-characterized, neurometabolic profiling in the brain of AS remains to be clear...
2017: PloS One
https://www.readbyqxmd.com/read/28058747/towards-a-neurochemical-profile-of-the-amygdala-using-short-te-1-h-magnetic-resonance-spectroscopy-at-3%C3%A2-t
#20
Florian Schubert, Simone Kühn, Jürgen Gallinat, Ralf Mekle, Bernd Ittermann
The amygdala plays a key role in emotional learning and in the processing of emotions. As disturbed amygdala function has been linked to several psychiatric conditions, a knowledge of its biochemistry, especially neurotransmitter levels, is highly desirable. The spin echo full intensity acquired localized (SPECIAL) sequence, together with a transmit/receive coil, was used to perform very short-TE magnetic resonance spectroscopy at 3 T to determine the neurochemical profile in a spectroscopic voxel containing the amygdala in 21 healthy adult subjects...
January 6, 2017: NMR in Biomedicine
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