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https://www.readbyqxmd.com/read/29312999/covertly-active-and-progressing-neurochemical-abnormalities-in-suppressed-hiv-infection
#1
Lucette A Cysique, Lauriane Jugé, Thomas Gates, Michael Tobia, Kirsten Moffat, Bruce J Brew, Caroline Rae
Objective: To assess whether HIV-related brain injury is progressive in persons with suppressed HIV infection. Methods: Seventy-three HIV+ virally suppressed men and 35 HIV- men, screened for psychiatric and alcohol/drug use disorders, underwent neuropsychological evaluation and proton magnetic resonance spectroscopy (1H-MRS) at baseline and after and 23 ± 5 months. 1H-MRS included brain regions known to be vulnerable to HIV and aging: frontal white matter (FWM), posterior cingulate cortex (PCC), and caudate area (CA)...
January 2018: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/29310369/mitochondrial-mutations-in-12s-rrna-and-16s-rrna-presenting-as-chronic-progressive-external-ophthalmoplegia-cpeo-plus-a-case-report
#2
Zhan-Yun Lv, Xue-Mei Xu, Xiao-Fu Cao, Qian Wang, Da-Fang Sun, Wen-Jing Tian, Yan Yang, Yu-Zhong Wang, Yan-Lei Hao
RATIONALE: Chronic progressive external ophthalmoplegia (CPEO) is a classical mitochondrial ocular disorder characterized by bilateral progressive ptosis and ophthalmoplegia. Kearns -Sayre syndrome (KSS) is a multisystem disorder with PEO, cardiac conduction block, and pigmentary retinopathy. A few individuals with CPEO have other manifestations of KSS, but do not meet all the clinical diagnosis criteria, and this is called "CPEO plus." PATIENT CONCERNS: We report a 48-year-old woman exhibiting limb weakness, ptosis, ophthalmoparesis, and cerebellar dysfunctions...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29273277/novel-bicd2-mutation-in-a-japanese-family-with-autosomal-dominant-lower-extremity-predominant-spinal-muscular-atrophy-2
#3
Mieko Yoshioka, Naoya Morisada, Daisaku Toyoshima, Hajime Yoshimura, Hisahide Nishio, Kazumoto Iijima, Yasuhiro Takeshima, Tomoko Uehara, Kenjiro Kosaki
INTRODUCTION: The most common form of spinal muscular atrophy (SMA) is a recessive disorder caused by SMN1 mutations in 5q13, whereas the genetic etiologies of non-5q SMA are very heterogenous and largely remain to be elucidated. We present a father and son with atrophy and weakness of the lower leg muscles since infancy. Genetic studies in this family revealed a novel BICD2 mutation causing autosomal dominant lower extremity-predominant SMA type 2. PATIENTS: The proband was the father, aged 30, and the son was aged 3...
December 19, 2017: Brain & Development
https://www.readbyqxmd.com/read/29223496/multi-modal-imaging-investigation-of-anterior-cingulate-cortex-cytoarchitecture-in-neurodevelopment
#4
Natalie J Forde, Jilly Naaijen, David J Lythgoe, Sophie E A Akkermans, Thaïra J C Openneer, Andrea Dietrich, Marcel P Zwiers, Pieter J Hoekstra, Jan K Buitelaar
Multi-modal imaging may improve our understanding of the relationship between cortical morphology and cytoarchitecture. To this end we integrated the analyses of several magnetic resonance imaging (MRI) and spectroscopy (MRS) metrics within the anterior cingulate cortex (ACC). Considering the ACCs role in neurodevelopmental disorders, we also investigated the association between neuropsychiatric symptoms and the various metrics. T1 and diffusion-weighted MRI and 1H-MRS (ACC voxel) data along with phenotypic information were acquired from children (8-12 years) with various neurodevelopmental disorders (n=95) and healthy controls (n=50)...
December 6, 2017: European Neuropsychopharmacology: the Journal of the European College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/29218227/lessons-learnt-from-a-case-of-missed-central-hypothyroidism
#5
Tessa Glyn, Beverley Harris, Kate Allen
We present the case of a 57-year-old lady who had a delayed diagnosis of central hypothyroidism on a background of Grave's thyrotoxicosis and a partial thyroidectomy. During the twenty years following her partial thyroidectomy, the patient developed a constellation of symptoms and new diagnoses, which were investigated by numerous specialists from various fields, namely rheumatology, renal and respiratory. She developed significantly impaired renal function and raised creatine kinase (CK). She was also referred to a tertiary neurology service for investigation of myositis, which resulted in inconclusive muscle biopsies...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29200081/pd-1-inhibitor-associated-myopathies-emerging-immune-mediated-myopathies
#6
Teerin Liewluck, Justin C Kao, Michelle L Mauermann
Programmed death-1 (PD-1) inhibitors are increasingly used in cancer immunotherapy. Various immune-related adverse events are reported, including infrequent individual case reports of myositis or rhabdomyolysis. The frequency and diagnostic spectrum of immune-related adverse events affecting skeletal muscle in PD-1 inhibitor-treated patients are unknown. We searched the Mayo Clinic Pharmacy database (2014-2016) to identify patients who developed myopathies during or after PD-1 inhibitor therapy. Among 654 cancer patients received PD-1 inhibitors (pembrolizumab=389; nivolumab=264; both=1), we identified 5 patients (pembrolizumab=5) with biopsy-proven myopathies (2 necrotizing myopathy, 1 early dermatomyositis, and 2 nonspecific myopathy)...
December 1, 2017: Journal of Immunotherapy
https://www.readbyqxmd.com/read/29197093/the-association-between-irisin-and-muscle-metabolism-in-different-thyroid-disorders
#7
Ariadna Zybek-Kocik, Nadia Sawicka-Gutaj, Ewelina Szczepanek-Parulska, Mirosław Andrusiewicz, Joanna Waligórska-Stachura, Piotr Białas, Tomasz Krauze, Przemysław Guzik, Jerzy Skrobisz, Marek Ruchała
BACKGROUND: Irisin is a new adipo-myokine, encoded by the FNDC5 gene. Currently, there is a discussion regarding the relation between thyroid function and irisin concentration. This prospective study assesses the influence of thyrometabolic changes on serum irisin concentration in association with altered muscle metabolism. This is performed on a large cohort of patients affected by severe hypo- or hyperthyroidism, as well as by the expression of the FNDC5 gene in thyroid tissue affected by different pathologies...
December 2, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/29189310/muscle-damage-due-to-fusidic-acid-statin-interaction-review-of-75-cases-from-the-french-pharmacovigilance-database-and-literature-reports
#8
Maxime Bataillard, Marie-Noëlle Beyens, Geneviève Mounier, Delphine Vergnon-Miszczycha, Haleh Bagheri, Pascal Cathebras
BACKGROUND/AREA OF UNCERTAINTY: Statins, which reduce cardiovascular risk in both primary and secondary prevention, are one of the most widely prescribed therapeutic classes in the world. Usually well-tolerated, statin-associated muscle symptoms are a well-known adverse effect. Fusidic acid (FA) is a bacteriostatic antibiotic of interest in the treatment of methicillin-resistant Staphylococcus aureus infections. Cases of rhabdomyolysis, sometimes fatal, have been reported after coprescription of FA and a statin...
November 9, 2017: American Journal of Therapeutics
https://www.readbyqxmd.com/read/29177955/a-randomized-double-blind-placebo-controlled-proof-of-concept-trial-of-creatine-monohydrate-as-adjunctive-treatment-for-bipolar-depression
#9
Ricardo Alexandre Toniolo, Michelle Silva, Francy de Brito Ferreira Fernandes, José Antonio de Mello Siqueira Amaral, Rodrigo da Silva Dias, Beny Lafer
Depressive episodes are a major cause of morbidity and dysfunction in individuals suffering from bipolar disorder. Currently available treatments for this condition have limited efficacy and new therapeutic options are needed. Extensive research in the pathophysiology of bipolar disorder points to the existence of mitochondrial and bioenergetic dysfunction. We hypothesized that creatine monohydrate, a nutraceutical that works as a mitochondrial modulator, would be effective as an adjunctive therapy for bipolar depression...
November 24, 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/29177616/medial-frontal-lobe-neurochemistry-in-autism-spectrum-disorder-is-marked-by-reduced-n-acetylaspartate-and-unchanged-gamma-aminobutyric-acid-and-glutamate%C3%A2-%C3%A2-glutamine-levels
#10
Andreia Carvalho Pereira, Inês R Violante, Susana Mouga, Guiomar Oliveira, Miguel Castelo-Branco
The nature of neurochemical changes in autism spectrum disorder (ASD) remains controversial. We compared medial prefrontal cortex (mPFC) neurochemistry of twenty high-functioning children and adolescents with ASD without associated comorbidities and fourteen controls. We observed reduced total N-acetylaspartate (tNAA) and total creatine, increased Glx/tNAA but unchanged glutamate + glutamine (Glx) and unchanged absolute or relative gamma-aminobutyric acid (GABA+) in the ASD group. Importantly, both smaller absolute and relative GABA+ levels were associated with worse communication skills and developmental delay scores assessed by the autism diagnostic interview-revised (ADI-R)...
November 24, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29172053/associations-of-neurofunctional-morphometric-and-metabolic-abnormalities-with-clinical-symptom-severity-and-recognition-deficit-in-obsessive-compulsive-disorder
#11
Chung-Man Moon, Gwang-Woo Jeong
BACKGROUND: Obsessive-compulsive disorder (OCD) causes neural dysfunction associated with cognitive deficit and emotional dysregulation. This study assessed the associations of the neurofunctional changes, gray matter (GM) and white matter (WM) volume alterations in conjunction with in vivo metabolic changes on the working memory tasks in patients with OCD. METHODS: Eighteen patients with OCD and 18 healthy controls matched for age, sex, and educational levels underwent high-resolution T1-weighted magnetic resonance imaging (MRI), event-related functional MRI (fMRI), and proton magnetic resonance spectroscopy (1H-MRS) at 3T...
November 14, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29152248/nutritional-management-of-search-and-rescue-dogs
#12
G Vassalotti, N Musco, P Lombardi, S Calabrò, R Tudisco, V Mastellone, R Grazioli, S Bianchi, M I Cutrignelli
Dogs used for search and rescue (SAR) may experience continuous micro-traumas that predispose them to skeletal disorders. The aim of the present study was to evaluate the effect of diet on osteo-articular apparatus in healthy SAR dogs. A total of sixteen SAR dogs were divided into two groups (low supplementation (LS) and high supplementation (HS)) and were fed for 3 months with two experimental diets, characterised by the same protein and energy density, but different in n-3 PUFA (6·2 v. 8·4 % of metabolisable energy), chondroitin sulfate (219·8 v...
2017: Journal of Nutritional Science
https://www.readbyqxmd.com/read/29149851/identification-of-gaa-variants-through-whole-exome-sequencing-targeted-to-a-cohort-of-606-patients-with-unexplained-limb-girdle-muscle-weakness
#13
Katherine Johnson, Ana Töpf, Marta Bertoli, Lauren Phillips, Kristl G Claeys, Vidosava Rakocevic Stojanovic, Stojan Perić, Andreas Hahn, Paul Maddison, Ela Akay, Alexandra E Bastian, Anna Łusakowska, Anna Kostera-Pruszczyk, Monkol Lek, Liwen Xu, Daniel G MacArthur, Volker Straub
BACKGROUND: Late-onset Pompe disease is a rare genetic neuromuscular disorder caused by a primary deficiency of α-glucosidase and the associated accumulation of glycogen in lysosomal vacuoles. The deficiency of α-glucosidase can often be detected using an inexpensive and readily accessible dried blood spot test when Pompe disease is suspected. Like several neuromuscular disorders, Pompe disease typically presents with progressive weakness of limb-girdle muscles and respiratory insufficiency...
November 17, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29145203/evaluation-of-mental-disorders-using-proton-magnetic-resonance-spectroscopy-in-dialysis-and-predialysis-patients
#14
Chun-Yun Zhang, Ying Chen, Shan Chen, Xiang-Chuang Kong, Yuan Liu, Chao-Qun You, Cheng Wan, Philip A Bondzie, Hua Su, Chun Zhang, Fang-Fang He
BACKGROUND/AIMS: Psychological complications are prevalent in patients with chronic kidney disease (CKD). This study aimed to investigate mental disorders in stage 4-5 CKD patients, to detect metabolite concentrations in the brain by proton magnetic resonance spectroscopy (1H-MRS) and to compare the effects of different dialysis therapies on mental disorders in end-stage renal disease (ESRD). METHODS: The sample population was made up of predialysis (13), hemodialysis (HD) (13), and peritoneal dialysis (PD) patients (12)...
November 21, 2017: Kidney & Blood Pressure Research
https://www.readbyqxmd.com/read/29136753/-metabolomics-study-of-tris-2-chloroethyl-phosphate-induced-hepaotoxicity-and-nephrotoxicity-in-sprague-dawley-rats
#15
W Q Yang, F Zhao, L Li, Y J Fang
Objective: To discuss the potential toxic target organ and the toxic effects and mechanisms of tris (2-chloroethyl) phosphate (TCEP) on SD rats. Methods: 40 female SD rats weaning from milk for 21 days, weighted (50±2.3)g were selected as subjects and marked by the weight. They were randomly divided into 4 groups, namely control group, 50 (L), 100 (M) and 250 (H) mg·kg(-1)·d(-1) dose of TCEP group. Each group has 10 rats, and administrated the corresponding dose of drug or vehicle by mouth, quaque die for 60 days...
November 6, 2017: Zhonghua Yu Fang Yi Xue za Zhi [Chinese Journal of Preventive Medicine]
https://www.readbyqxmd.com/read/29123615/the-combination-of-physical-exercise-with-muscle-directed-antioxidants-to-counteract-sarcopenia-a-biomedical-rationale-for-pleiotropic-treatment-with-creatine-and-coenzyme-q10
#16
REVIEW
Michele Guescini, Luca Tiano, Maria Luisa Genova, Emanuela Polidori, Sonia Silvestri, Patrik Orlando, Carmela Fimognari, Cinzia Calcabrini, Vilberto Stocchi, Piero Sestili
Sarcopenia represents an increasing public health risk due to the rapid aging of the world's population. It is characterized by both low muscle mass and function and is associated with mobility disorders, increased risk of falls and fractures, loss of independence, disabilities, and increased risk of death. Despite the urgency of the problem, the development of treatments for sarcopenia has lagged. Increased reactive oxygen species (ROS) production and decreased antioxidant (AO) defences seem to be important factors contributing to muscle impairment...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/29123500/efficacy-and-the-safety-of-granulocyte-colony-stimulating-factor-treatment-in-patients-with-muscular-dystrophy-a-non-randomized-clinical-trial
#17
Dorota Sienkiewicz, Wojciech Kułak, Bożena Okurowska-Zawada, Grażyna Paszko-Patej, Janusz Wojtkowski, Karolina Sochoń, Anna Kalinowska, Kamila Okulczyk, Jerzy Sienkiewicz, Edward McEachern
Introduction: The current standard treatment for patients with Duchenne muscular dystrophy (DMD) involves corticosteroids. Granulocyte colony-stimulating factor (G-CSF) induces the proliferation of satellite cells and myoblasts and, in turn, muscle regeneration. Beneficial effects of G-CSF were also described for skeletal muscle disorders. Aim: We assessed the safety and effects of using G-CSF to promote muscle strength in patients with DMD. Materials and methods: Inclusion criteria were as follows: patients aged 5-15 years with diagnosed with DMD confirmed by genetic test or biopsy...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/29122890/microrna-30c-reduces-plasma-cholesterol-in-homozygous-familial-hypercholesterolemic-and-type-2-diabetic-mouse-models
#18
Sara Irani, Jahangir Iqbal, W James Antoni, Laraib Ijaz, M Mahmood Hussain
High plasma cholesterol levels are found in several metabolic disorders and their reductions are advocated to reduce risk of atherosclerosis. A way to lower plasma lipids is to curtail lipoprotein production; however, this is associated with steatosis. We previously showed that microRNA-30c (miR-30c) lowers diet-induced hypercholesterolemia and atherosclerosis in C57BL/6J and Apoe-/- mice. Here, we tested miR-30c effect on plasma lipids, transaminases and hepatic lipids in different mouse models. Hepatic delivery of miR-30c to chow fed leptin deficient (ob/ob) and leptin receptor deficient (db/db) hypercholesterolemic and hyperglycemic mice reduced cholesterol in total plasma and VLDL/LDL by ~28% and ~25%, respectively, without affecting triglyceride and glucose levels...
November 9, 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/29107647/muscle-protective-effects-of-schisandrae-fructus-extracts-in-old-mice-after-chronic-forced-exercise
#19
Ki-Young Kim, Sae-Kwang Ku, Ki-Won Lee, Chang-Hyun Song, Won G An
ETHNOPHARMACOLOGICAL RELEVANCE: Schisandrae Fructus (SF), the dried fruit of Schisandra chinensis (Turcz.) Baill., is a well-known traditional herb used in Asia for enhancing physical work capacity as well as providing anti-stress and anti-inflammatory effects. Extracts of SF (SFe) have also been reported to increase skeletal muscle mass and inhibit muscle atrophy. AIM OF THE STUDY: We examined whether SFe had muscle-protective effects in old mice after chronic forced exercises, and, if so, relevant mechanisms...
October 28, 2017: Journal of Ethnopharmacology
https://www.readbyqxmd.com/read/29078101/a-pilot-study-of-cortical-glutathione-in-youth-with-depression
#20
Rachel D Freed, Cecilia N Hollenhorst, Nora Weiduschat, Xiangling Mao, Guoxin Kang, Dikoma C Shungu, Vilma Gabbay
AIM: This study used proton magnetic resonance spectroscopy ((1)H MRS) to measure in vivo brain glutathione (GSH) in adolescents with major depressive disorder (MDD), and explored the relationship between GSH and illness severity and chronicity. Secondarily, associations between GSH and anhedonia, a key symptom of MDD in adolescents, were investigated. METHODS: Occipital cortex GSH levels were obtained in 19 psychotropic medication-free adolescents with MDD (ages 12-21) and compared to those in eight healthy control adolescents...
December 30, 2017: Psychiatry Research
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