keyword
MENU ▼
Read by QxMD icon Read
search

Creatine deficiency

keyword
https://www.readbyqxmd.com/read/28236618/common-1h-mrs-characteristics-in-patients-with-alzheimer-s-disease-and-vascular-dementia-diagnosed-with-kidney-essence-deficiency-syndrome-a-preliminary-study
#1
Zhongwei Guo, Xiaozheng Liu, Yulin Cao, Hongtao Hou, Xingli Chen, Yongcan Chen, Feihua Huang, Wei Chen
Context • Traditional Chinese medicine (TCM) indicates that both Alzheimer's disease (AD) and vascular dementia (VD) should be categorized as dementia and that they have a common etiology and pathogenesis under TCM classification of syndromes, such as with kidney essence deficiency syndrome (KEDS). The pathological location is mainly in the brain. However, it remains unclear whether AD and VD patients with KEDS exhibit a metabolic commonality in the same region of the brain. Objective • The study intended to investigate the metabolic characteristics of the brain using proton magnetic resonance spectroscopy (1H-MRS) in patients with AD and VD who had been diagnosed with KEDS...
February 27, 2017: Alternative Therapies in Health and Medicine
https://www.readbyqxmd.com/read/28225086/uvrag-deficiency-exacerbates-doxorubicin-induced-cardiotoxicity
#2
Lin An, Xiao-Wen Hu, Shasha Zhang, Xiaowen Hu, Zongpei Song, Amber Naz, Zhenguo Zi, Jian Wu, Can Li, Yunzeng Zou, Lin He, Hongxin Zhu
Doxorubicin (DOX) is an effective chemotherapeutic drug in the treatment of various types of cancers. However, its clinical application has been largely limited by potential development of cardiotoxicity. Previously we have shown that ultra-violet radiation resistance-associated gene (UVRAG), an autophagy-related protein, is essential for the maintenance of autophagic flux in the heart under physiological conditions. Here, we sought to determine the role of UVRAG-mediated autophagy in DOX-induced cardiotoxicity...
February 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28220408/guanidinoacetate-methyltransferase-activity-in-lymphocytes-for-a-fast-diagnosis
#3
Lisette M Berends, Eduard A Struys, Birthe Roos, Ulbe Holwerda, Erwin E W Jansen, Gajja S Salomons, Mirjam M C Wamelink
INTRODUCTION: Guanidinoacetate methyltransferase (GAMT) deficiency is an inborn error of metabolism (IEM), clinically characterized by intellectual disability, developmental delay, seizures, and movement disorders. Biochemical diagnosis of GAMT deficiency is based on the measurement of creatine and guanidinoacetate in urine, plasma, or CSF and is confirmed genetically by DNA analysis or by enzyme assay in lymphoblasts or fibroblasts. To obtain enough cells, these cells need to be cultured for at least 1 month...
February 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28214429/interplay-between-autophagy-and-apoptosis-in-selenium-deficient-cardiomyocytes-in-chicken
#4
Jie Yang, Yuan Zhang, Sattar Hamid, Jingzeng Cai, Qi Liu, Hao Li, Rihong Zhao, Hong Wang, Shiwen Xu, Ziwei Zhang
Dietary selenium (Se) deficiency can cause heart dysfunction, however the exact mechanism remains unclear. To understand this mechanism, 180day-old chicks, divided into two groups, C (control group) and L (low Se group), were fed with either a Se-sufficient (0.23mg/kg) or Se-deficient (0.033mg/kg) diets for 25days, respectively. Heart tissues and blood samples were collected. In L group, the activities of serum creatine kinase (CK) and creatine kinase-myoglobin (CK-MB) increased and typical ultrastructural apoptotic features were observed...
February 10, 2017: Journal of Inorganic Biochemistry
https://www.readbyqxmd.com/read/28193520/mdr1a-plays-a-crucial-role-in-regulating-the-analgesic-effect-and-toxicity-of-aconitine-by-altering-its-pharmacokinetic-characteristics
#5
Lijun Zhu, Jinjun Wu, Min Zhao, Wenjie Song, Xiaoxiao Qi, Ying Wang, Linlin Lu, Zhongqiu Liu
Aconitine (AC) is the primary bioactive/toxic alkaloid in plants of the Aconitum species. Our previous study demonstrated that Mdr1 was involved in efflux of AC. However, the mechanism by which Mdr1 regulates the efficacy/toxicity of AC in vivo remains unclear. The present study aimed to determine the effects of Mdr1a on the efficacy/toxicity and pharmacokinetics of AC in wild-type and Mdr1a(-/-) FVB mice. After oral administration of AC, significantly higher analgesic effect was observed in Mdr1a(-/-) mice (49% to 105%) compared to wild-type mice (P<0...
February 11, 2017: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/28163524/afebrile-seizures-as-initial-symptom-of-hypocalcemia-secondary-to-hypoparathyroidism
#6
Anastasia Gkampeta, Eftyxia Kouma, Anastasia Touliopoulou, Efstathios Aggelopoulos, Eleni Vourti
Hypocalcemia is rare in childhood and caused, among other conditions, by hypoparathyroidism. DiGeorge syndrome is the most common cause of hypoparathyroidism in childhood. Presentation of a rare cause of hypocalcemia in childhood and the necessity of measuring serum electrolyte levels in patients presenting with afebrile seizures. a 7.5-year-old female child presented with afebrile seizures lasting 5 min with postictal drowsiness. A similar episode 1 month ago is described. On admission, a positive Trousseau sign, papilledema, and long QTc on electrocardiography were detected...
December 2016: Journal of Neurosciences in Rural Practice
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/28108628/metabolic-reprogramming-by-folate-restriction-leads-to-a-less-aggressive-cancer-phenotype
#8
Zahra Ashkavand, Ciara O'Flanagan, Mirko Hennig, Xiuxia Du, Stephen D Hursting, Sergey A Krupenko
: Folate coenzymes are involved in biochemical reactions of one-carbon transfer, and deficiency of this vitamin impairs cellular proliferation, migration, and survival in many cell types. Here, the effect of folate restriction on mammary cancer was evaluated using three distinct breast cancer subtypes differing in their aggressiveness and metastatic potential: noninvasive basal-like (E-Wnt), invasive but minimally metastatic claudin-low (M-Wnt), and highly metastatic claudin-low (metM-Wnt(liver)) cell lines, each derived from the same pool of MMTV-Wnt-1 transgenic mouse mammary tumors...
January 20, 2017: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/28069926/creatine-enhances-mitochondrial-mediated-oligodendrocyte-survival-after-demyelinating-injury
#9
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
#10
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/28060020/significant-association-between-statin-associated-myalgia-and-vitamin-d-deficiency-among-treated-hiv-infected-patients
#11
Leonardo Calza, Eleonora Magistrelli, Vincenzo Colangeli, Marco Borderi, Ilaria Contadini, Isabella Bon, Maria Carla Re, Pierluigi Viale
BACKGROUND.: Several studies have shown a significant association between vitamin D deficiency and an increased risk of statin-related symptomatic myalgia in the general population, but there are no data among HIV-infected persons. METHODS.: A retrospective, cohort study was conducted to assess the incidence of symptomatic myalgia and elevation in serum creatine kinase (CK) level among HIV-positive adults on cART and treated with atorvastatin or rosuvastatin for at least 12 months between 2011 and 2015 in our Outpatient Unit...
January 4, 2017: AIDS
https://www.readbyqxmd.com/read/28055022/laboratory-diagnosis-of-creatine-deficiency-syndromes-a-technical-standard-and-guideline-of-the-american-college-of-medical-genetics-and-genomics
#12
J Daniel Sharer, Olaf Bodamer, Nicola Longo, Silvia Tortorelli, Mirjam M C Wamelink, Sarah Young
Disclaimer: These ACMG Standards and Guidelines are intended as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these standards and guidelines is voluntary and does not necessarily assure a successful medical outcome. These Standards and Guidelines should not be considered inclusive of all proper procedures and tests or exclusive of others that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, clinical laboratory geneticists should apply their professional judgment to the specific circumstances presented by the patient or specimen...
January 5, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28049948/abnormal-n-glycosylation-of-a-novel-missense-creatine-transporter-mutant-g561r-associated-with-cerebral-creatine-deficiency-syndromes-alters-transporter-activity-and-localization
#13
Tatsuki Uemura, Shingo Ito, Yusuke Ohta, Masanori Tachikawa, Takahito Wada, Tetsuya Terasaki, Sumio Ohtsuki
Cerebral creatine deficiency syndromes (CCDSs) are caused by loss-of-function mutations in creatine transporter (CRT, SLC6A8), which transports creatine at the blood-brain barrier and into neurons of the central nervous system (CNS). This results in low cerebral creatine levels, and patients exhibit mental retardation, poor language skills and epilepsy. We identified a novel human CRT gene missense mutation (c.1681 G>C, G561R) in Japanese CCDSs patients. The purpose of the present study was to evaluate the reduction of creatine transport in G561R-mutant CRT-expressing 293 cells, and to clarify the mechanism of its functional attenuation...
2017: Biological & Pharmaceutical Bulletin
https://www.readbyqxmd.com/read/27993387/low-vitamin-d-does-not-predict-statin-associated-muscle-symptoms-but-is-associated-with-transient-increases-in-muscle-damage-and-pain
#14
Beth A Taylor, Lindsay Lorson, C Michael White, Paul D Thompson
BACKGROUND AND AIMS: Low vitamin D (VITD) may contribute to statin-associated muscle symptoms (SAMS). We examined the influence of baseline and change in VITD in patients with verified SAMS. METHODS: SAMS was verified in 120 patients with prior statin muscle complaints using 8-week randomized, double-blind crossover trials of simvastatin (SIMVA) 20 mg/d and placebo. 25 (OH)vitamin D was measured at each phase of the trial. RESULTS: Forty-three patients (35...
January 2017: Atherosclerosis
https://www.readbyqxmd.com/read/27924409/antioxidants-reverse-the-changes-in-energy-metabolism-of-rat-brain-after-chronic-administration-of-l-tyrosine
#15
Brena P Teodorak, Giselli Scaini, Milena Carvalho-Silva, Lara M Gomes, Letícia J Teixeira, Joyce Rebelo, Samira D T De Prá, Neila Zeni, Patrícia F Schuck, Gustavo C Ferreira, Emilio L Streck
Tyrosinemia type II is a rare autosomal recessive disease caused by deficiency of hepatic tyrosine aminotransferase and is associated with neurologic and development difficulties in numerous patients. Considering that the mechanisms underlying the neurological dysfunction in hypertyrosinemic patients are poorly known and that high concentrations of tyrosine provoke mitochondrial dysfunction and oxidative stress, in the present study we investigated the in vivo influence of antioxidants (N-acetylcysteine, NAC; and deferoxamine, DFX) administration on the inhibitory effects on parameters of energy metabolism in cerebral cortex, hippocampus and striatum of rats, provoked by chronic administration of L...
December 6, 2016: Metabolic Brain Disease
https://www.readbyqxmd.com/read/27913923/actn3-x-allele-carriers-had-greater-levels-of-muscle-damage-during-a-half-ironman
#16
Juan Del Coso, Juan José Salinero, Beatriz Lara, César Gallo-Salazar, Francisco Areces, Carlos Puente, David Herrero
PURPOSE: Alpha-actinin-3, encoded by the ACTN3 gene, is an actin-binding protein with an important role in myofibril contraction and muscle force output. In humans, there is a relatively common deficiency of the α-actinin-3 due to homozygosity in a polymorphism of the ACTN3 gene (R577X, rs1815739), that has been related to decreased resistance to strain during voluntary muscle contractions. The purpose of this study was to investigate the influence of the ACTN3 genotype on the level of exercise-induced muscle damage attained by 23 experienced triathletes during an official half-ironman competition...
December 2, 2016: European Journal of Applied Physiology
https://www.readbyqxmd.com/read/27859996/microphthalmia-associated-transcription-factor-ensures-the-elongation-of-axons-and-dendrites-in-the-mouse-frontal-cortex
#17
Koji Ohba, Kazuhisa Takeda, Tamio Furuse, Tomohiro Suzuki, Shigeharu Wakana, Takashi Suzuki, Hiroaki Yamamoto, Shigeki Shibahara
Long interspersed element-1 (LINE-1) is a mammalian transposable element, and its genomic insertion could cause neurological disorders in humans. Incidentally, LINE-1 is present in intron 3 of the microphthalmia-associated transcription factor (Mitf) gene of the black-eyed white mouse (Mitf(mi-bw) allele). Mice homozygous for the Mitf(mi-bw) allele show the white coat color with black eye and deafness. Here, we explored the functional consequences of the LINE-1 insertion in the Mitf gene using homozygous Mitf(mi-bw) mice on the C3H background (C3H-bw mice) or on the C57BL/6 background (bw mice)...
December 2016: Genes to Cells: Devoted to Molecular & Cellular Mechanisms
https://www.readbyqxmd.com/read/27859369/childhood-macrophagic-myofasciitis-a-series-from-the-indian-subcontinent
#18
Aanchal Kakkar, Madhu Rajeshwari, Aasma Nalwa, Vaishali Suri, Chitra Sarkar, Biswaroop Chakrabarty, Sheffali Gulati, Mehar C Sharma
INTRODUCTION: Macrophagic myofasciitis (MMF) is a rare disorder, reported mainly in European adults, with occasional childhood cases. We report a series of 6 patients with pediatric MMF from the Indian subcontinent. METHODS: Clinical details, creatine kinase levels, and results of electromyography are described for patients diagnosed with MMF. Fresh-frozen and formalin-fixed muscle biopsies were evaluated by hematoxylin-eosin staining, histochemistry, immunohistochemistry, and electron microscopy...
November 11, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27852646/metabolic-reprogramming-by-folate-restriction-leads-to-a-less-aggressive-cancer-phenotype
#19
Zahra Ashkavand, Ciara O'Flanagan, Mirko Hennig, Xiuxia Du, Stephen D Hursting, Sergey A Krupenko
: Folate coenzymes are involved in biochemical reactions of one-carbon transfer, and deficiency of this vitamin impairs cellular proliferation, migration and survival in many cell types. Here the effect of folate restriction on mammary cancer was evaluated using three distinct breast cancer subtypes differing in their aggressiveness and metastatic potential: non-invasive basal-like (E-Wnt), invasive but minimally metastatic claudin-low (M-Wnt), and highly metastatic claudin-low (metM-Wntliver) cell lines, each derived from the same pool of MMTV-Wnt-1 transgenic mouse mammary tumors...
November 16, 2016: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/27832700/systemic-correction-of-murine-glycogen-storage-disease-type-iv-by-an-aav-mediated-gene-therapy
#20
Haiqing Yi, Quan Zhang, Elizabeth D Brooks, Chunyu Yang, Beth L Thurberg, Priya S Kishnani, Baodong Sun
Deficiency of glycogen branching enzyme (GBE) causes glycogen storage disease type IV (GSD IV), which is characterized by the accumulation of a less branched, poorly soluble form of glycogen called polyglucosan (PG) in multiple tissues. This study evaluates the efficacy of gene therapy with an adeno-associated viral (AAV) vector in a mouse model of adult form of GSD IV (Gbe1(ys/ys)). An AAV serotype 9 (AAV9) vector containing a human GBE expression cassette (AAV-GBE) was intravenously injected into 14-day-old Gbe1(ys/ys) mice at a dose of 5 × 10(11) vector genomes per mouse...
November 10, 2016: Human Gene Therapy
keyword
keyword
5503
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"