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Creatine deficiency

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https://www.readbyqxmd.com/read/27859996/microphthalmia-associated-transcription-factor-ensures-the-elongation-of-axons-and-dendrites-in-the-mouse-frontal-cortex
#1
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)...
November 11, 2016: Genes to Cells: Devoted to Molecular & Cellular Mechanisms
https://www.readbyqxmd.com/read/27859369/childhood-macrophagic-myofasciitis-a-series-from-the-indian-subcontinent
#2
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
#3
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
#4
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. We evaluate the efficacy of gene therapy with an adeno-associated viral (AAV) vector in a mouse model of adult form of GSD IV (<i>Gbe1<sup>ys/ys</sup></i>). An AAV serotype 9 (AAV9) vector containing a human GBE expression cassette (AAV-GBE) was intravenously injected into 14-day-old <i>Gbe1<sup>ys/ys</sup></i> mice at a dose of 5x10<sup>11</sup> vector genomes per mouse...
November 10, 2016: Human Gene Therapy
https://www.readbyqxmd.com/read/27831744/simulated-microgravity-increases-myocardial-susceptibility-to-ischemia-reperfusion-injury-via-a-deficiency-of-amp-activated-protein-kinase
#5
Yuan-Ming Lu, Bo Jiao, Jun Lee, Lin Zhang, Zhi-Bin Yu
Gravitation is an important factor in maintaining cardiac contractility. Our study investigated whether simulated microgravity increases myocardial susceptibility to ischemia-reperfusion (IR) injury. Using the Langendorff-perfused heart model with 300 beats/min pacing, 4-week tail suspension (SUS) and control (CON) male Sprague-Dawley rats (n = 10 rats/group) were subjected to 60 min of left anterior descending coronary artery (LAD) occlusion followed by 120 min of reperfusion. Left ventricular end-systolic pressure (LVESP), left ventricular end-diastolic pressure (LVEDP), creatine kinase (CK) and lactate dehydrogenase (LDH) activity, and infarct size were assessed...
September 1, 2016: Canadian Journal of Physiology and Pharmacology
https://www.readbyqxmd.com/read/27812541/muscle-oxidative-phosphorylation-quantitation-using-creatine-chemical-exchange-saturation-transfer-crcest-mri-in-mitochondrial-disorders
#6
Catherine DeBrosse, Ravi Prakash Reddy Nanga, Neil Wilson, Kevin D'Aquilla, Mark Elliott, Hari Hariharan, Felicia Yan, Kristin Wade, Sara Nguyen, Diana Worsley, Chevonne Parris-Skeete, Elizabeth McCormick, Rui Xiao, Zuela Zolkipli Cunningham, Lauren Fishbein, Katherine L Nathanson, David R Lynch, Virginia A Stallings, Marc Yudkoff, Marni J Falk, Ravinder Reddy, Shana E McCormack
Systemic mitochondrial energy deficiency is implicated in the pathophysiology of many age-related human diseases. Currently available tools to estimate mitochondrial oxidative phosphorylation (OXPHOS) capacity in skeletal muscle in vivo lack high anatomic resolution. Muscle groups vary with respect to their contractile and metabolic properties. Therefore, muscle group-specific estimates of OXPHOS would be advantageous. To address this need, a noninvasive creatine chemical exchange saturation transfer (CrCEST) MRI technique has recently been developed, which provides a measure of free creatine...
November 3, 2016: JCI Insight
https://www.readbyqxmd.com/read/27809913/long-term-safety-and-efficacy-of-omnitrope%C3%A2-a-somatropin-biosimilar-in-children-requiring-growth-hormone-treatment-italian-interim-analysis-of-the-patro-children-study
#7
Lorenzo Iughetti, Gianluca Tornese, Maria Elisabeth Street, Flavia Napoli, Claudia Giavoli, Franco Antoniazzi, Stefano Stagi, Caterina Luongo, Sara Azzolini, Letizia Ragusa, Gianni Bona, Clara Zecchino, Tommaso Aversa, Luca Persani, Laura Guazzarotti, Emiliano Zecchi, Alberto Pietropoli, Stefano Zucchini
BACKGROUND: PATRO Children is an ongoing observational, longitudinal, non-interventional, global post-marketing surveillance study, which is investigating the long-term safety and effectiveness of Omnitrope®, a somatropin biosimilar to Genotropin®, in children with growth disturbances. The primary endpoint of PATRO Children is long-term safety and the secondary endpoint is effectiveness, which is assessed by analysing auxological data such as height (HSDS) and height velocity (HVSDS) standard deviation scores...
November 3, 2016: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/27770663/low-protein-z-plasma-level-is-a-risk-factor-for-acute-myocardial-infarction-in-coronary-atherosclerosis-disease-patients
#8
Baoxin Liu, Yong Li, Jiachen Luo, Liming Dai, Jinlong Zhao, Hongqiang Li, Qiqiang Jie, Dongzhi Wang, Xin Huang, Yidong Wei
OBJECTIVES: To examine plasma protein Z (PZ) levels in acute myocardial infarction (AMI) and chronic coronary atherosclerosis disease (CCAD) patients without history of AMI and explore its potential clinical significance. METHODS: Plasma PZ concentrations were measured in 90 AMI patients (Group A), 87 CCAD patients without AMI history who remained free of major clinical events at least one year (Group B), and 88 clinically healthy controls (Group C). RESULTS: PZ was found to be significantly lower (P<0...
October 13, 2016: Thrombosis Research
https://www.readbyqxmd.com/read/27769081/an-unusual-case-of-lchad-deficiency-presenting-with-a-clinical-picture-of-hemophagocytic-lymphohistiocytosis-secondary-hlh-or-coincidence
#9
Sahin Erdol, Mehmet Ture, Birol Baytan, Tahsin Yakut, Halil Saglam
There are published reports stating that some of the congenital metabolic diseases, such as lysinuric protein intolerance, multiple sulphatase deficiency, galactosemia, Gaucher disease, Pearson syndrome, and galactosialidosis, might lead to secondary hemophagocytic lymphohistiocytosis (HLH). However, to date, to our knowledge, the long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency has never been investigated among patients with HLH. Here, we report on a patient who was referred to our institution for a differential diagnosis of pancytopenia, liver failure, and rhabdomyolysis...
November 2016: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/27739274/hypocalcemic-cardiomyopathy-and-pseudohypoparathyroidism-due-to-severe-vitamin-d-deficiency
#10
C M Batra, Rajiv Agarwal
Hypocalcemic cardiomyopathy is a rare entity. We describe a patient with severe heart failure, decreased ejection fraction and global hypokinesia documented on echocardiogram, associated with severe hypocalcemia, very low vitamin D status, increased QT intervals, increased BNP (serum brain natriuretic peptide) levels and CPK (creatine phosphokinase) levels. All these defects reversed on treatment with vitamin D and calcium within a few days without any specific cardiac intervention.
June 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27701498/creatine-metabolism-detection-of-creatine-and-guanidinoacetate-in-saliva-of-healthy-subjects
#11
Lidia D Martínez, Miriam Bezard, Mabel Brunotto, Raquel Dodelson de Kremer
Creatine (Cr) plays an important role in storage and transmission of phosphate-bound energy. Cerebral creatine deficiency syndromes comprise three inherited defects in Cr biosynthesis and transport. The aim of this study was to investigate whether Cr and Guanidinoacetate (GAA) can be detected in saliva of healthy subjects and to establish the relationship between salivary and plasma levels of these molecules. An adapted gas chromatography (GC) method is described for the quantification of Cr and GAA biomarkers in saliva...
April 2016: Acta Odontológica Latinoamericana: AOL
https://www.readbyqxmd.com/read/27650626/creatine-deficiency-syndrome-could-be-missed-easily-a-case-report-of-guanidinoacetate-methyltransferase-deficiency-presented-with-neurodevelopmental-delay-seizures-and-behavioral-changes-but-normal-structural-mri
#12
Iliyana Pacheva, Ivan Ivanov, Marin Penkov, Daliya Kancheva, Albena Jordanova, Mariya Ivanova
A case with GAMT deficiency (homozygous c.64dupG mutation) presented with neurodevelopmental delay, rare seizures, behavioral disturbances, and mild hypotonia, posing diagnostic challenges. Metabolic investigations showed low creatinine in plasma and urine (guanidinoacetate couldn't be investigated) and slightly elevated lactate. MRI was normal. Correct diagnosis was possible only after MR spectroscopy was performed at age 5½ years. A homozygous c.64dupG mutation of the GAMT gene was identified in the proband...
September 2016: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/27611456/clinicopathological-features-of-telbivudine-associated-myopathy
#13
Tomica Ambang, Joo-San Tan, Sheila Ong, Kum-Thong Wong, Khean-Jin Goh
Telbivudine, a thymidine nucleoside analog, is a common therapeutic option for chronic hepatitis B infection. While raised serum creatine kinase is common, myopathy associated with telbivudine is rare. Reports on its myopathological features are few and immunohistochemical analyses of inflammatory cell infiltrates have not been previously described. We describe the clinical, myopathological and immunohistochemical features of four patients who developed myopathy after telbivudine therapy for chronic hepatitis B infection...
2016: PloS One
https://www.readbyqxmd.com/read/27608616/ultrastructural-remodelling-of-slow-skeletal-muscle-fibres-in-creatine-kinase-deficient-mice-a-quantitative-study
#14
Marta Novotová, Bohumila Tarabová, Lucia Tylková, Renee Ventura-Clapier, Ivan Zahradník
Creatine kinase content, isoform distribution, and participation in energy transfer are muscle type specific. We analysed ultrastructural changes in slow muscle fibres of soleus due to invalidation of creatine kinase (CK) to reveal a difference in the remodelling strategy in comparison with fast muscle fibres of gastrocnemius published previously. We have employed the stereological method of vertical sections and electron microscopy of soleus muscles of wild type (WT) and CK-/- mice. The mitochondrial volume density was 1...
September 9, 2016: General Physiology and Biophysics
https://www.readbyqxmd.com/read/27571720/hypocalcaemia-of-malignancy
#15
A Schattner, I Dubin, R Huber, M Gelber
BACKGROUND: Hypercalcaemia of malignancy is well recognised, but hypocalcaemia in cancer patients is not, although it is increasingly encountered. METHODS: Analysis of an exemplary case and a narrative review of the literature based on the search terms cancer and hypocalcaemia. RESULTS: Hypocalcaemia may affect as many as 10% of hospitalised cancer patients. We identified 12 different potential mechanisms of hypocalcaemia of malignancy. Identifying the pathogenesis is essential for the correct treatment and can usually be performed at the bedside, based on serum parathyroid hormone (PTH) levels, creatinine, phosphate, magnesium, creatine kinase, liver enzymes and 25(OH)D...
July 2016: Netherlands Journal of Medicine
https://www.readbyqxmd.com/read/27561792/a-spectroscopic-approach-toward-depression-diagnosis-local-metabolism-meets-functional-connectivity
#16
Liliana Ramona Demenescu, Lejla Colic, Meng Li, Adam Safron, B Biswal, Coraline Danielle Metzger, Shijia Li, Martin Walter
Abnormal anterior insula (AI) response and functional connectivity (FC) is associated with depression. In addition to clinical features, such as severity, AI FC and its metabolism further predicted therapeutic response. Abnormal FC between anterior cingulate and AI covaried with reduced glutamate level within cingulate cortex. Recently, deficient glial glutamate conversion was found in AI in major depression disorder (MDD). We therefore postulate a local glutamatergic mechanism in insula cortex of depressive patients, which is correlated with symptoms severity and itself influences AI's network connectivity in MDD...
August 25, 2016: European Archives of Psychiatry and Clinical Neuroscience
https://www.readbyqxmd.com/read/27544473/amenable-treatable-severe-pediatric-epilepsies
#17
Phillip L Pearl
Vitamin-dependent epilepsies and multiple metabolic epilepsies are amenable to treatment that markedly improves the disease course. Knowledge of these amenably treatable severe pediatric epilepsies allows for early identification, testing, and treatment. These disorders present with various phenotypes, including early onset epileptic encephalopathy (refractory neonatal seizures, early myoclonic encephalopathy, and early infantile epileptic encephalopathy), infantile spasms, or mixed generalized seizure types in infancy, childhood, or even adolescence and adulthood...
May 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/27523008/malignant-hypertension-with-thrombotic-microangiopathy
#18
Hayato Mitaka, Yuji Yamada, Osamu Hamada, Shintaro Kosaka, Naoki Fujiwara, Yoshitaka Miyakawa
A 49-year-old man with malignant hypertension, acute kidney injury and mental deterioration was referred to our hospital. We initially observed microangiopathic hemolytic anemia, thrombocytopenia and kidney damage, indicating he had thrombotic microangiopathy (TMA). We considered TMA was caused by malignant hypertension and therefore did not start plasma therapy. The French TMA reference center reported that platelet counts and serum creatine levels have high values for predicting severe ADAMTS13 deficiency...
2016: Internal Medicine
https://www.readbyqxmd.com/read/27501525/progress-and-challenges-in-diagnosis-of-dysferlinopathy
#19
Marina Fanin, Corrado Angelini
Dysferlin-deficient limb girdle muscular dystrophy type 2B, distal Miyoshi myopathy, and other less frequent phenotypes are a group of recessive disorders called dysferlinopathies. They are characterized by wide clinical heterogeneity. To diagnose dysferlinopathy, a clinical neuromuscular workup, including electrophysiological and muscle imaging investigations, is essential to support subsequent laboratory testing. Increased serum creatine kinase levels, distal or proximal muscle weakness, and myalgia with onset in the second or third decades are the main clinical features of the disease...
November 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27499134/metabolomic-analysis-of-csf-indicates-brain-metabolic-impairment-precedes-hematological-indices-of-anemia-in-the-iron-deficient-infant-monkey
#20
Raghavendra Rao, Kathleen Ennis, Gabriele R Lubach, Eric F Lock, Michael K Georgieff, Christopher L Coe
OBJECTIVES: Iron deficiency (ID) anemia leads to long-term neurodevelopmental deficits by altering iron-dependent brain metabolism. The objective of the study was to determine if ID induces metabolomic abnormalities in the cerebrospinal fluid (CSF) in the pre-anemic stage and to ascertain the aspects of abnormal brain metabolism affected. METHODS: Standard hematological parameters [hemoglobin (Hgb), mean corpuscular volume (MCV), transferrin (Tf) saturation, and zinc protoporphyrin/heme (ZnPP/H)] were compared at 2, 4, 6, 8, and 12 months in iron-sufficient (IS; n = 7) and iron-deficient (ID; n = 7) infant rhesus monkeys...
August 6, 2016: Nutritional Neuroscience
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