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Creatine disorders

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https://www.readbyqxmd.com/read/27930565/a-case-report-with-the-peculiar-concomitance-of-2-different-genetic-syndromes
#1
Alberto Lerario, Irene Colombo, Donatella Milani, Lorenzo Peverelli, Luisa Villa, Roberto Del Bo, Monica Sciacco, Giacomo Pietro Comi, Susanna Esposito, Maurizio Moggio
RATIONALE: Down syndrome (DS) is the most common chromosome disorder in live born infants, affecting several body systems, but usually sparing skeletal muscles. We present the case of a child with coexistence of DS and dystrophinopathy. Only 1 similar case has been reported so far. PATIENT CONCERNS: An 8-year-old boy with DS had a history of incidental finding of increased serum creatine kinase levels up to 1775 U/L (normal values 38-174 U/L). He presented no delay in motor development; at the neurological examination, no muscle weakness or fatigability was detected in 2 different evaluations performed over a 6-month period...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27924060/a-novel-mechanism-underlies-atrazine-toxicity-in-quails-coturnix-coturnix-coturnix-triggering-ionic-disorder-via-disruption-of-atpases
#2
Jia Lin, Hui-Xin Li, Lei Qin, Zheng-Hai Du, Jun Xia, Jin-Long Li
The widely used atrazine has been reported to exhibit extensive ecological hazards. Due to the biological accumulation, atrazine elicits widespread toxic effects on different organisms. However, true proof for the mechanism of atrazine-induced toxicity is lacking. To determine the potential mechanism by which atrazine exerted toxic effects, quails were treated with atrazine (0, 50, 250 and 500 mg/kg) by gavage administration for 45 days. Atrazine significantly increased the histological alterations and serum creatine kinase, lactate dehydrogenase and choline esterase levels...
December 4, 2016: Oncotarget
https://www.readbyqxmd.com/read/27922496/metabolic-myopathies
#3
Mark A Tarnopolsky
PURPOSE OF REVIEW: Metabolic myopathies are genetic disorders that impair intermediary metabolism in skeletal muscle. Impairments in glycolysis/glycogenolysis (glycogen-storage disease), fatty acid transport and oxidation (fatty acid oxidation defects), and the mitochondrial respiratory chain (mitochondrial myopathies) represent the majority of known defects. The purpose of this review is to develop a diagnostic and treatment algorithm for the metabolic myopathies. RECENT FINDINGS: The metabolic myopathies can present in the neonatal and infant period as part of more systemic involvement with hypotonia, hypoglycemia, and encephalopathy; however, most cases present in childhood or in adulthood with exercise intolerance (often with rhabdomyolysis) and weakness...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27909746/brain-glutamate-in-anorexia-nervosa-a-magnetic-resonance-spectroscopy-case-control-study-at-7-tesla
#4
Beata R Godlewska, Alexandra Pike, Ann L Sharpley, Agnes Ayton, Rebecca J Park, Philip J Cowen, Uzay E Emir
RATIONALE: Anorexia nervosa (AN) is a serious psychiatric disorder with high morbidity and mortality. There are no established pharmacological treatments and the neurobiology of the condition is poorly understood. Previous studies using magnetic resonance spectroscopy (MRS) have shown that AN may be associated with reductions in indices of brain glutamate; however, at conventional field strengths (≤3 T), it is difficult to separate glutamate from its precursor and metabolite, glutamine...
December 1, 2016: Psychopharmacology
https://www.readbyqxmd.com/read/27900193/exertional-rhabdomyolysis-physiological-response-or-manifestation-of-an-underlying-myopathy
#5
Renata S Scalco, Marc Snoeck, Ros Quinlivan, Susan Treves, Pascal Laforét, Heinz Jungbluth, Nicol C Voermans
Exertional rhabdomyolysis is characterised by muscle breakdown associated with strenuous exercise or normal exercise under extreme circumstances. Key features are severe muscle pain and sudden transient elevation of serum creatine kinase (CK) levels with or without associated myoglobinuria. Mild cases may remain unnoticed or undiagnosed. Exertional rhabdomyolysis is well described among athletes and military personnel, but may occur in anybody exposed to unaccustomed exercise. In contrast, exertional rhabdomyolysis may be the first manifestation of a genetic muscle disease that lowers the exercise threshold for developing muscle breakdown...
2016: BMJ Open Sport & Exercise Medicine
https://www.readbyqxmd.com/read/27899787/mcardle-disease-misdiagnosed-as-meningitis
#6
Renata Siciliani Scalco, Sherryl Chatfield, Muhammad Hyder Junejo, Suzanne Booth, Jatin Pattni, Richard Godfrey, Ros Quinlivan
BACKGROUND McArdle disease is a glycogen storage disorder mainly characterized by exercise intolerance. Prolonged muscle contracture is also a feature of this condition and may lead to rhabdomyolysis (RM), which is a serious event characterized by acute skeletal muscle damage.  CASE REPORT A 44-year-old female patient presented with an acute contracture of the posterior neck muscles, causing severe nuchal rigidity. The contracture was induced during a dental extraction as she held her mouth open for a prolonged period, with her neck in a rigid position...
November 30, 2016: American Journal of Case Reports
https://www.readbyqxmd.com/read/27890303/cognitive-effects-of-creatine-monohydrate-adjunctive-therapy-in-patients-with-bipolar-depression-results-from-a-randomized-double-blind-placebo-controlled-trial
#7
REVIEW
Ricardo Alexandre Toniolo, Francy de Brito Ferreira Fernandes, Michelle Silva, Rodrigo da Silva Dias, Beny Lafer
BACKGROUND: Depressive episodes and cognitive impairment are major causes of morbidity and dysfunction in individuals suffering from bipolar disorder (BD). Novel treatment approaches that target clinical and cognitive aspects of bipolar depression are needed, and research on pathophysiology suggests that mitochondrial modulators such as the nutraceutical creatine monohydrate might have a therapeutic role for this condition. METHODS: Eighteen (N=18) patients with bipolar depression according to DSM-IV criteria who were enrollled in a 6-week, randomized, double-blind, placebo-controlled trial of creatine monohydrate 6g daily as adjunctive therapy were submitted to neuropsychological assessments (Wisconsin Card Sorting Test, Digit Span subtest of the Wechsler Adult Intelligence Scale-Third Edition, Stroop Color-Word Test, Rey-Osterrieth complex figure test, FAS Verbal Fluency Test) at baseline and week 6...
November 20, 2016: Journal of Affective Disorders
https://www.readbyqxmd.com/read/27889897/growth-differentiation-factor-15-is-a-novel-diagnostic-biomarker-of-mitochondrial-diseases
#8
Xinbo Ji, Lizhen Zhao, Kunqian Ji, Yuying Zhao, Wei Li, Rui Zhang, Ying Hou, Jianqiang Lu, Chuanzhu Yan
The present study aimed to investigate whether serum growth differentiation factor 15 concentration is a valuable and reliable diagnostic biomarker of mitochondrial diseases. We examined consecutive patients with mitochondrial diseases, in comparison with patients with non-mitochondrial disease neuromuscular disorders and healthy controls. The serum concentrations of growth differentiation factor 15 were measured by ELISA, and compared with those of FGF21, lactate, and creatine kinase. We also evaluated the correlations between growth differentiation factor 15 concentrations and the Newcastle Mitochondrial Disease Adult Scale, numbers of ragged-red fibers, and COX-negative fibers in the biopsied muscles...
November 26, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27870506/differential-neurometabolite-alterations-in-brains-of-medication-free-individuals-with-bipolar-disorder-and-those-with-unipolar-depression-a-two-dimensional-proton-magnetic-resonance-spectroscopy-study
#9
Hui Li, Haiyun Xu, Yinnan Zhang, Jitian Guan, Jie Zhang, Chongtao Xu, Zhiwei Shen, Bo Xiao, Chunlian Liang, Kaiyuan Chen, Jinling Zhang, Renhua Wu
OBJECTIVES: Bipolar disorder (BD) is a mental disorder characterized by periods of elevated mood and depression. Many individuals with BD are initially misdiagnosed and treated for unipolar depression (UD). In this study, we report direct comparisons between medication-free individuals with BD and those with UD in terms of the neurometabolites in the anterior cingulate cortex (ACC), medial prefrontal cortex (mPFC), parietal cortex (PC), and posterior cingulate cortex (PCC) of the brain...
November 2016: Bipolar Disorders
https://www.readbyqxmd.com/read/27869127/main-effects-of-diagnoses-brain-regions-and-their-interaction-effects-for-cerebral-metabolites-in-bipolar-and-unipolar-depressive-disorders
#10
Hai-Zhu Tan, Hui Li, Chen-Feng Liu, Ji-Tian Guan, Xiao-Bo Guo, Can-Hong Wen, Shao-Min Ou, Yin-Nan Zhang, Jie Zhang, Chong-Tao Xu, Zhi-Wei Shen, Ren-Hua Wu, Xue-Qin Wang
Previous studies suggested patients with bipolar depressive disorder (BDd) or unipolar depressive disorder (UDd) have cerebral metabolites abnormalities. These abnormalities may stem from multiple sub-regions of gray matter in brain regions. Thirteen BDd patients, 20 UDd patients and 20 healthy controls (HC) were enrolled to investigate these abnormalities. Absolute concentrations of 5 cerebral metabolites (glutamate-glutamine (Glx), N-acetylaspartate (NAA), choline (Cho), myo-inositol (mI), creatine (Cr), parietal cortex (PC)) were measured from 4 subregions (the medial frontal cortex (mPFC), anterior cingulate cortex (ACC), posterior cingulate cortex (PCC), and parietal cortex (PC)) of gray matter...
November 21, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27868234/efficient-31-p-band-inversion-transfer-approach-for-measuring-creatine-kinase-activity-atp-synthesis-and-molecular-dynamics-in-the-human-brain-at-7-t
#11
Jimin Ren, A Dean Sherry, Craig R Malloy
PURPOSE: To develop an efficient (31) P magnetic resonance spectroscopy (MRS) method for measuring creatine kinase (CK) activity, adenosine triphosphate (ATP) synthesis, and motion dynamics in the human brain at 7 Tesla (T). METHODS: Three band inversion modules differing in center frequency were used to induce magnetization transfer (MT) effect in three exchange pathways: (i) CK-mediated reaction PCr → γ-ATP; (ii) de novo ATP synthesis Pi → γ-ATP; and (iii) ATP intramolecular (31) P-(31) P cross-relaxation γ-(α-) ↔ β-ATP...
November 20, 2016: Magnetic Resonance in Medicine: Official Journal of the Society of Magnetic Resonance in Medicine
https://www.readbyqxmd.com/read/27863115/reversible-splenial-lesion-syndrome-with-a-hyperosmolar-hyperglycemic-state-and-neuroleptic-malignant-syndrome-caused-by-olanzapine
#12
Kenta Kaino, Ryo Kumagai, Shoko Furukawa, Momoko Isono, Aiko Muramatsu, Masanao Fujii, Yumiko Muta, Tomoyuki Asada, Kazuya Fujihara, Hiroaki Yagyu
A 27-year-old woman with panic disorder taking 20 mg olanzapine daily for 4 months was admitted to our hospital because of disturbed consciousness with fever, hyperglycemia, hyperosmolarity, and elevated creatine phosphokinase. She was diagnosed with a hyperosmolar hyperglycemic state (HHS) and neuroleptic malignant syndrome (NMS). Brain magnetic resonance imaging (MRI) showed transiently restricted diffusion in the splenium of the corpus callosum (SCC), with a high signal intensity on diffusion-weighted imaging...
November 18, 2016: Journal of Diabetes Investigation
https://www.readbyqxmd.com/read/27862896/homozygous-lipe-mutation-in-siblings-with-multiple-symmetric-lipomatosis-partial-lipodystrophy-and-myopathy
#13
Sagit Zolotov, Chao Xing, Riad Mahamid, Adel Shalata, Mohammed Sheikh-Ahmad, Abhimanyu Garg
Despite considerable progress in identifying causal genes for lipodystrophy syndromes, the molecular basis of some peculiar adipose tissue disorders remains obscure. In an Israeli-Arab pedigree with a novel autosomal recessive, multiple symmetric lipomatosis (MSL), partial lipodystrophy and myopathy, we conducted exome sequencing of two affected siblings to identify the disease-causing mutation. The 41-year-old female proband and her 36-year-old brother reported marked accumulation of subcutaneous fat in the face, neck, axillae, and trunk but loss of subcutaneous fat from the lower extremities and progressive distal symmetric myopathy during adulthood...
November 11, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27859996/microphthalmia-associated-transcription-factor-ensures-the-elongation-of-axons-and-dendrites-in-the-mouse-frontal-cortex
#14
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
#15
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/27847932/neurochemical-alterations-in-anterior-cingulate-cortex-in-bipolar-disorder-a-proton-magnetic-resonance-spectroscopy-study-1h-mrs
#16
Beata Galińska-Skok, Beata Konarzewska, Bożena Kubas, Eugeniusz Tarasów, Agata Szulc
OBJECTIVES: The aim of this study was to determine neurochemical alterations in bipolar disorder using proton magnetic resonance spectroscopy (1H-MRS). METHODS: We investigated a group of 27 patients diagnosed with bipolar disorder (with manic and mixed episodes, depression and after remission of symptoms) and 10 healthy subjects. MR imaging and 1H-MRS were performed on a 1.5 T scanner. Voxels of 8 cm3 were positioned in the anterior cingulate, left frontal lobe and left temporal lobe...
2016: Psychiatria Polska
https://www.readbyqxmd.com/read/27823574/meta-analysis-of-creatine-for-neuroprotection-against-parkinson-s-disease
#17
Attia Attia, Hussien Ahmed, Mohamed Gadelkarim, Mahmoud Morsi, Kamal Awad, Mohamed Elnenny, Esraa Ghanem, Shaimaa El-Jafaary, Ahmed Negida
Background Creatine is an antioxidant agent that showed neuroprotective effects in animal models of Parkinson's disease (PD). Creatine was selected by the National Institute of Neurological Disorders and Stroke as a possible disease modifying agent for Parkinson's disease. Therefore, many clinical trials evaluated the efficacy of creatine for patients with PD. The aim of this systematic review and meta-analysis is to synthesize evidence from published randomized controlled trials (RCTs) about the efficacy of Creatine for patients with PD...
November 4, 2016: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/27818009/use-of-the-six-minute-walk-test-to-characterize-golden-retriever-muscular-dystrophy
#18
Austin R Acosta, Emiko Van Wie, William B Stoughton, Amanda K Bettis, Heather H Barnett, Nicholas R LaBrie, Cynthia J Balog-Alvarez, Peter P Nghiem, Kevin J Cummings, Joe N Kornegay
Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder in which loss of the dystrophin protein causes progressive skeletal/cardiac muscle degeneration and death within the third decade. For clinical trials and supportive animal studies, DMD disease progression and response to treatment must be established using outcome parameters (biomarkers). The 6-minute walk test (6MWT), defined as the distance an individual can walk in 6 minutes, is commonly used in DMD clinical trials and has been employed in dogs to characterize cardiac and respiratory disease severity...
October 3, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27816519/cognitive-decline-in-type-2-diabetic-db-db-mice-may-be-associated-with-brain-region-specific-metabolic-disorders
#19
Hong Zheng, Yongquan Zheng, Liangcai Zhao, Minjiang Chen, Guanghui Bai, Yongsheng Hu, Wenyi Hu, Zhihan Yan, Hongchang Gao
Type 2 diabetes has been associated with cognitive decline, but its metabolic mechanism remains unclear. In the present study, we attempted to investigate brain region-specific metabolic changes in db/db mice with cognitive decline and explore the potential metabolic mechanism linking type 2 diabetes and cognitive decline. We analyzed the metabolic changes in seven brain regions of two types of mice (wild-type mice and db/db mice with cognitive decline) using a (1)H NMR-based metabolomic approach. Then, a mixed-model analysis was used to evaluate the effects of mice type, brain region, and their interaction on metabolic changes...
November 3, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27816328/tubular-aggregates-in-autoimmune-lambert-eaton-myasthenic-syndrome
#20
Isabell Cordts, Fabian Funk, Jörg B Schulz, Joachim Weis, Kristl G Claeys
Tubular aggregates are accumulations of densely packed tubules in muscle fibers, occurring in distinct hereditary and acquired disorders. We present a patient with tubular aggregates and autoimmune Lambert-Eaton myasthenic syndrome. Initially, he showed mild proximal weakness, borderline decrement on 3 Hz stimulation, and slightly elevated creatine kinase. Muscle biopsy revealed tubular aggregates in type II fibers. Due to a good response to pyridostigmine, a limb-girdle myasthenia with tubular aggregates was suspected, but genetic analyses of GFPT1, DPGAT1, and ALG2 were normal...
September 20, 2016: Neuromuscular Disorders: NMD
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