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Creatine disorders

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https://www.readbyqxmd.com/read/28902630/pseudohypoparathyroidism-type-1b-associated-with-assisted-reproductive-technology
#1
Monica Fernandez, Maria Jose Zambrano, Joel Riquelme, Claudia Castiglioni, Marie-Laure Kottler, Harald Jüppner, Veronica Mericq
Evidence suggests an increased incidence of imprinting disorders in children conceived by assisted reproductive technologies (ART). Maternal loss-of-methylation at GNAS exon A/B, observed in pseudohypoparathyroidism type 1b (PHP1B), leads to decreased expression of the stimulatory Gsα. We present a patient conceived by ART, who presented at age 4 years with delayed neurocognitive development and persistently increased creatine kinase (CK). At 6 years an elevated PTH was detected with normal calcium and a low 25(OH) vitamin D level (25OHD)...
September 13, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28900143/a-unique-case-of-human-zika-virus-infection-in-association-with-severe-liver-injury-and-coagulation-disorders
#2
Yanhua Wu, Xiaoyun Cui, Na Wu, Rui Song, Wei Yang, Wei Zhang, Dongying Fan, Zhihai Chen, Jing An
Zika virus (ZIKV) has caused major concern globally due to its rapid dissemination and close association with microcephaly in children and Gullian-Barr syndrome in adults. In this study, we identified a patient returned from Cambodia who experienced high fever, chill and myalgia. Lab tests discovered sign of severe liver injury including significantly elevated serum transaminases' level, decreased serum albumin level, and markedly increased levels of lactic dehydrogenase, alpha-hydroxybutyric dehydrogenase and creatine kinase in serum...
September 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28899124/apparent-diffusion-coefficient-adc-does-not-correlate-with-different-serological-parameters-in-myositis-and-myopathy
#3
Hans-Jonas Meyer, Oliver Ziemann, Malte Kornhuber, Alexander Emmer, Ulf Quäschling, Stefan Schob, Alexey Surov
Background Magnetic resonance imaging (MRI) is widely used in several muscle disorders. Diffusion-weighted imaging (DWI) is an imaging modality, which can reflect microstructural tissue composition. The apparent diffusion coefficient (ADC) is used to quantify the random motion of water molecules in tissue. Purpose To investigate ADC values in patients with myositis and non-inflammatory myopathy and to analyze possible associations between ADC and laboratory parameters in these patients. Material and Methods Overall, 17 patients with several myositis entities, eight patients with non-inflammatory myopathies, and nine patients without muscle disorder as a control group were included in the study (mean age = 55...
January 1, 2017: Acta Radiologica
https://www.readbyqxmd.com/read/28889092/quantitative-mr-spectroscopic-imaging-in-metachromatic-leukodystrophy-value-for-prognosis-and-treatment
#4
Diane F van Rappard, Antoine Klauser, Marjan E Steenweg, Jaap Jan Boelens, Marianna Bugiani, Marjo S van der Knaap, Nicole I Wolf, Petra J W Pouwels
OBJECTIVE: To determine whether proton magnetic resonance spectroscopic imaging is useful in predicting clinical course of patients with metachromatic leukodystrophy (MLD), an inherited white matter disorder treatable with haematopoietic cell transplantation (HCT). METHODS: 21 patients with juvenile or adult MLD (12 HCT-treated) were compared with 16 controls in the same age range. Clinical outcome was determined as good, moderate or poor. Metabolites were quantified in white matter, and significance of metabolite concentrations at baseline for outcome prediction was assessed using logistic regression analysis...
September 9, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28861803/electro-acupuncture-treatment-for-internet-addiction-evidence-of-normalization-of-impulse-control-disorder-in-adolescents
#5
Yang Yang, Hui Li, Xi-Xi Chen, Luo-Ming Zhang, Bing-Jie Huang, Tian-Min Zhu
OBJECTIVE: To observe the impacts of electro-acupuncture (EA) and psychological intervention (PI) on impulsive behavior among internet addiction (IA) adolescents. METHODS: Thirty-two IA adolescents were allocated to either EA (16 cases) or PI (16 cases) group by a randomized digital table. Subjects in the EA group received EA treatment and subjects in the PI group received cognition and behavior therapy. All adolescents underwent 45-d intervention. Sixteen healthy volunteers were recruited into a control group...
September 1, 2017: Chinese Journal of Integrative Medicine
https://www.readbyqxmd.com/read/28843693/leukocyte-profile-gene-expression-acute-phase-response-and-metabolite-status-of-cows-with-sole-hemorrhages
#6
Keelin O'Driscoll, Matthew McCabe, Bernadette Earley
Sole hemorrhages result from disruption to normal claw horn formation and are caused by a variety of internal and external factors. Evidence suggests that they are painful, although they do not usually cause clinical lameness and are difficult to detect by observing cow gait. Little is known about how or whether sole hemorrhages affect the cow systemically. This study compared hematology profile, leukocyte gene expression, and physiological responses of cows with no/mild hemorrhages (category 1; n = 17), moderate hemorrhages (category 2; n = 18), and severe hemorrhages (category 3; n = 12)...
August 23, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/28836978/diurnal-variation-of-nmr-based-blood-metabolites-in-calves-fed-a-high-plane-of-milk-replacer-a-pilot-study
#7
Morteza H Ghaffari, Jayden A R MacPherson, Harma Berends, Michael A Steele
BACKGROUND: Blood profiles have been used to monitor herd health status, diagnose disorders, and predict the risk of diseases in cattle and calves. Characterizing plasma metabolites in dairy calves could provide further insight into daily metabolic variations and the mechanisms that lead to metabolic diseases. In addition, by understanding physiological ranges of plasma metabolites relative to meal and the time of feeding in healthy animals, veterinarians can accurately diagnose abnormalities with a blood test...
August 23, 2017: BMC Veterinary Research
https://www.readbyqxmd.com/read/28831647/novel-biomarkers-of-metabolic-dysfunction-is-autism-spectrum-disorder-potential-for-biological-diagnostic-markers
#8
Asma M Khemakhem, Richard E Frye, Afaf El-Ansary, Laila Al-Ayadhi, Abir Ben Bacha
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that is behaviorally defined by social and communication impairments and restricted interests and repetitive behaviors. There is currently no biomarkers that can help in the diagnosis. Several studies suggest that mitochondrial dysfunction is commonly involved in ASD pathophysiology, but standard mitochondrial biomarkers are thought to be very variable. In the present study we examine a wide variety of plasma biomarkers of mitochondrial metabolism and the related abnormalities of oxidative stress and apoptosis in 41 ASD patients assessed for ASD severity using the Childhood Autism Rating Scales and 41 non-related age and sex matched healthy controls...
August 22, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28828225/quantifying-absolute-glutamate-concentrations-in-nucleus-accumbens-of-prescription-opioid-addicts-by-using-1-h-mrs
#9
Xi-Long Liu, Long Li, Jian-Neng Li, Ji-Hua Tang, Jia-Hui Rong, Bo Liu, Ze-Xuan Hu
INTRODUCTION: The diagnosis of psychoactive substance use disorders has been based primarily on descriptive, symptomatic checklist criteria. In opioid addiction, there are no objective biological indicators specific enough to guide diagnosis, monitor disease status, and evaluate efficacy of therapeutic interventions. Proton magnetic resonance spectroscopy ((1)H MRS) of the brain has potential to identify and quantify biomarkers for the diagnosis of opioid dependence. The purpose of this study was to detect the absolute glutamate concentration in the nucleus accumbens (NAc) of patients with prescription opioid dependence using (1)H MRS, and to analyze its clinical associations...
August 2017: Brain and Behavior
https://www.readbyqxmd.com/read/28825656/use-of-fgf-21-as-a-biomarker-of-mitochondrial-disease-in-clinical-practice
#10
Alireza Morovat, Gayani Weerasinghe, Victoria Nesbitt, Monika Hofer, Thomas Agnew, Geralrine Quaghebeur, Kate Sergeant, Carl Fratter, Nishan Guha, Mehdi Mirzazadeh, Joanna Poulton
Recent work has suggested that fibroblast growth factor-21 (FGF-21) is a useful biomarker of mitochondrial disease (MD). We routinely measured FGF-21 levels on patients who were investigated at our centre for MD and evaluated its diagnostic performance based on detailed genetic and other laboratory findings. Patients' FGF-21 results were assessed by the use of age-adjusted z-scores based on normalised FGF-21 values from a healthy population. One hundred and fifty five patients were investigated. One hundred and four of these patients had molecular evidence for MD, 27 were deemed to have disorders other than MD (non-MD), and 24 had possible MD...
August 21, 2017: Journal of Clinical Medicine
https://www.readbyqxmd.com/read/28818755/biochemical-abnormalities-in-basal-ganglia-and-executive-dysfunction-in-acute-and-euthymic-episode-patients-with-bipolar-disorder-a-proton-magnetic-resonance-spectroscopy-study
#11
Shunkai Lai, Shuming Zhong, Xiaoxiao Liao, Ying Wang, Jingyu Huang, Shanhong Zhang, Yao Sun, Hui Zhao, Yanbin Jia
BACKGROUND: Recent studies found abnormal biochemical metabolism and executive cognitive deficits in acute bipolar disorder (BD). However, the evidence concerning in euthymic BD is limited. Thus, a comparison between acute and euthymic BD is conductive to better understanding the association between cognition and the outcome of neuroimaging. This study sought to investigate the relationship between the executive function and the biochemical metabolism in acute- and euthymic-episode BD patients and delineate the prominent endophenotype of BD...
July 25, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28804634/muscle-mri-findings-in-a-one-year-old-girl-with-merosin-deficient-congenital-muscular-dystrophy-type-1a-due-to-lama2-mutation-a-case-report
#12
Yingyin Liang, Guidian Li, Songlin Chen, Rongxing He, Xiangxue Zhou, Yingming Chen, Xue Xu, Ronglan Zhu, Cheng Zhang
The objective of the present study was to characterize the muscle magnetic resonance imaging (MRI) features of a 1-year-old girl with merosin-deficient congenital muscular dystrophy type 1A (MDC1A). Beginning as an infant, this patient exhibited severe hypotonia and proximal weakness, as well as delays in developmental milestones. Her serum creatine kinase levels at 3 months, 8 months and 1 year were 2,959, 1,621 and 1,659 U/l, respectively. Brain MRI indicated symmetric, mild T1WI low, mild T2WI and FLAIR high radial patterns in the white matter of the Cornu posterius of the ventricular lateral...
August 2017: Biomedical Reports
https://www.readbyqxmd.com/read/28782830/altered-behavioral-responses-to-gamma-aminobutyric-acid-pharmacological-agents-in-a-mouse-model-of-huntington-s-disease
#13
Yi-Ting Hsu, Ya-Gin Chang, Ching-Pang Chang, Jian-Jing Siew, Hui-Mei Chen, Chon-Haw Tsai, Yijuang Chern
BACKGROUND: Disruptions in gamma-aminobutyric (GABA) acid signaling are believed to be involved in Huntington's disease pathogenesis, but the regulation of GABAergic signaling remains elusive. Here we evaluated GABAergic signaling by examining the function of GABAergic drugs in Huntington's disease and the expression of GABAergic molecules using mouse models and human brain tissues from Huntington's disease. METHODS: We treated wild-type and R6/2 mice (a transgenic Huntington's disease mouse model) acutely with vehicle, diazepam, or gaboxadol (drugs that selectively target synaptic or extrasynaptic GABAA receptors) and monitored their locomotor activity...
August 7, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28771625/inhibition-of-dipeptidyl-peptidase-4-ameliorates-cardiac-ischemia-and-systolic-dysfunction-by-up-regulating-the-fgf-2-egr-1-pathway
#14
Masayoshi Suda, Ippei Shimizu, Yohko Yoshida, Yuka Hayashi, Ryutaro Ikegami, Goro Katsuumi, Takayuki Wakasugi, Yutaka Yoshida, Shujiro Okuda, Tomoyoshi Soga, Tohru Minamino
Dipeptidyl peptidase 4 inhibitors are used worldwide in the management of diabetes, but their role in the prevention or treatment of cardiovascular disorders has yet to be defined. We found that linagliptin, a DPP-4 inhibitor, suppressed capillary rarefaction in the hearts of mice with dietary obesity. Metabolomic analysis performed with capillary electrophoresis/mass spectrometry (LC-MS/MS) showed that linagliptin promoted favorable metabolic remodeling in cardiac tissue, which was characterized by high levels of citrulline and creatine...
2017: PloS One
https://www.readbyqxmd.com/read/28759390/cholestasis-and-hepatic-iron-deposition-in-an-infant-with-complex-glycerol-kinase-deficiency
#15
Diana Montoya-Williams, Meredith Mowitz
We present a 6-week-old male infant with persistent hyperbilirubinemia, hypertriglyceridemia, elevated creatine kinase levels, and transaminitis since the second week of life. When he developed hyperkalemia, clinical suspicion was raised for adrenal insufficiency despite hemodynamic stability. A full endocrine workup revealed nearly absent adrenocorticotropic hormone. Coupled with his persistent hypertriglyceridemia (peak of 811 mg/dL) and elevated creatine kinase levels (>20 000 U/L), his corticotropin level lead to a clinical diagnosis of complex glycerol kinase deficiency (GKD), also known as Xp21 deletion syndrome...
July 2017: Pediatrics
https://www.readbyqxmd.com/read/28758966/variability-of-creatine-metabolism-genes-in-children-with-autism-spectrum-disorder
#16
Jessie M Cameron, Valeriy Levandovskiy, Wendy Roberts, Evdokia Anagnostou, Stephen Scherer, Alvin Loh, Andreas Schulze
Creatine deficiency syndrome (CDS) comprises three separate enzyme deficiencies with overlapping clinical presentations: arginine:glycine amidinotransferase (GATM gene, glycine amidinotransferase), guanidinoacetate methyltransferase (GAMT gene), and creatine transporter deficiency (SLC6A8 gene, solute carrier family 6 member 8). CDS presents with developmental delays/regression, intellectual disability, speech and language impairment, autistic behaviour, epileptic seizures, treatment-refractory epilepsy, and extrapyramidal movement disorders; symptoms that are also evident in children with autism...
July 31, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28754454/clinical-spectra-of-neuromuscular-manifestations-in-patients-with-lipodystrophy-a-multicenter-study
#17
Gulcin Akinci, Haluk Topaloglu, Tevfik Demir, Ayca Ersen Danyeli, Beril Talim, Fatma Ela Keskin, Pinar Kadioglu, Enez Talip, Canan Altay, Guzin Fidan Yaylali, Habib Bilen, Banu Nur, Leyla Demir, Huseyin Onay, Baris Akinci
Lipodystrophy is a heterogeneous group of disorders characterized by loss of adipose tissue. Here, we report on clinical spectra of neuromuscular manifestations of Turkish patients with lipodystrophy. Seventy-four patients with lipodystrophy and 20 healthy controls were included. Peripheral sensorimotor neuropathy was a common finding (67.4%) in lipodystrophic patients with diabetes. Neuropathic foot ulcers were observed in 4 patients. Drop foot developed in 1 patient with congenital generalized lipodystrophy type 1...
June 1, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28752347/-prolonged-neuroleptic-malignant-syndrome-after-haloperidol-injection
#18
N Wystub, S Heymel, M Fritzenwanger, P C Schulze, R Pfeifer
Neuroleptic malignant syndrome (NMS) is a rare disorder caused by drug-induced dopamine-receptor-blockage or low dopamine concentration in the brain. It is a severe reaction to neuroleptic drugs in antipsychotic therapy. Symptoms in NMS typically consist of fever, muscle rigidity and cognitive changes; laboratory findings include elevated infectious disease markers and creatine kinase as well as signs of rhabdomyolysis. To differentiate NMS from other malignant hyperthermia syndromes identifying the offending drug and clinical history are essential...
July 27, 2017: Medizinische Klinik, Intensivmedizin und Notfallmedizin
https://www.readbyqxmd.com/read/28750658/complement-regulator-cd59-prevents-peripheral-organ-injury-in-rats-made-seropositive-for-neuromyelitis-optica-immunoglobulin-g
#19
Xiaoming Yao, Alan S Verkman
Pathogenesis in aquaporin-4 immunoglobulin G (AQP4-IgG) seropositive neuromyelitis optica spectrum disorders (herein called NMO) involves complement-dependent cytotoxicity initiated by AQP4-IgG binding to astrocyte AQP4. We recently reported that rats lacking complement inhibitor protein CD59 were highly susceptible to development of NMO pathology in brain and spinal cord following direct AQP4-IgG administration (Yao and Verkman, Acta Neuropath Commun 2017, 5:15). Here, we report evidence that CD59 is responsible for protection of peripheral, AQP4-expressing tissues in seropositive NMO...
July 27, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28743311/hypercapnic-respiratory-failure-during-pregnancy-due-to-polymyositis-related-respiratory-muscle-weakness-a-case-report
#20
Husain Shabbir Ali, Ibrahim Fawzy Hassan, Saibu George, Abdalrazig Elsadig Fadlelmula
BACKGROUND: Polymyositis is a rare medical disorder complicating pregnancy. Ventilatory muscle weakness leading to respiratory failure is an uncommon manifestation of this autoimmune disease. We report a case of life-threatening hypercapnic respiratory failure due to polymyositis-related respiratory muscle weakness in a pregnant woman. CASE PRESENTATION: A 31-year-old, African woman in her second trimester of pregnancy presented to the emergency department with fever, shortness of breath and muscle weakness...
July 26, 2017: Journal of Medical Case Reports
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