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https://www.readbyqxmd.com/read/29778398/antipsychotic-induced-disorders-reported-cases-and-prospective-study-on-muscle-biomarkers-after-high-exposure-to-haloperidol
#1
Abderrezak Khelfi, Mohammed Azzouz, Rania Abtroun, Mohammed Reggabi, Berkahoum Alamir
Antipsychotic drugs are known to induce neuromuscular effects. In this study, we review 13 years (2002-2014) of antipsychotic intoxications reported by the anti-poisoning center of Algiers (APCA). The most recorded symptoms were neuromuscular/muscular disorders, of which haloperidol was the most inducer among all antipsychotics. A prospective study was conducted between December 2012 and January 2017 to evaluate muscle effects generated after intentional or accidental ingestion of haloperidol. Fifty-one patients admitted in different emergency departments in Algiers were included in this study...
May 17, 2018: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/29770799/heart-type-fatty-acid-binding-protein-h-fabp-as-a-biomarker-for-acute-myocardial-injury-and-long-term-post-ischemic-prognosis
#2
REVIEW
Xiao-Dong Ye, Yi He, Sheng Wang, Gordon T Wong, Michael G Irwin, Zhengyuan Xia
Acute myocardial infarction (AMI) is a life-threatening event. Even with timely treatment, acute ischemic myocardial injury and ensuing ischemia reperfusion injury (IRI) can still be difficult issues to tackle. Apart from radiological and other auxiliary examinations, laboratory tests of applicable cardiac biomarkers are also necessary for early diagnosis and close monitoring of this disorder. Heart-type fatty acid binding protein (H-FABP), which mainly exists inside cardiomyocytes, has recently emerged as a potentially promising biomarker for myocardial injury...
May 17, 2018: Acta Pharmacologica Sinica
https://www.readbyqxmd.com/read/29768385/low-pg-i-ii-ratio-as-a-marker-of-atrophic-gastritis-association-with-nutritional-and-metabolic-status-in-healthy-people
#3
Weiwei Su, Bin Zhou, Guangming Qin, Zhihao Chen, Xiaoge Geng, Xiaojun Chen, Wensheng Pan
A low pepsinogen (PG) I/II ratio can be used to detect atrophic gastritis (AG). Recent research has found that the PG I/II ratio is associated with several nutritional and metabolic disorders. The aim of this study is to investigate the relationship between the PG I/II ratio and biochemical markers in a Chinese population.In total, 1896 participants in a gastric cancer screening program underwent a health screening test that included assessment of serum pepsinogens. Subjects with PG I/II < 3.0 were considered as having atrophic gastritis...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29763467/natural-disease-history-of-the-dy2j-mouse-model-of-laminin-%C3%AE-2-merosin-deficient-congenital-muscular-dystrophy
#4
S Pasteuning-Vuhman, K Putker, C L Tanganyika-de Winter, J W Boertje-van der Meulen, L van Vliet, M Overzier, J J Plomp, A Aartsma-Rus, M van Putten
Merosin deficient congenital muscular dystrophy 1A (MDC1A) is a very rare autosomal recessive disorder caused by mutations in the LAMA2 gene leading to severe and progressive muscle weakness and atrophy. Although over 350 causative mutations have been identified for MDC1A, no treatment is yet available. There are many therapeutic approaches in development, but the lack of natural history data of the mouse model and standardized outcome measures makes it difficult to transit these pre-clinical findings to clinical trials...
2018: PloS One
https://www.readbyqxmd.com/read/29752652/disruption-of-the-responsible-gene-in-a-phosphoglucomutase-1-deficiency-patient-by-homozygous-chromosomal-inversion
#5
Katsuyuki Yokoi, Yoko Nakajima, Tamae Ohye, Hidehito Inagaki, Yoshinao Wada, Tokiko Fukuda, Hideo Sugie, Isao Yuasa, Tetsuya Ito, Hiroki Kurahashi
Phosphoglucomutase 1 (PGM1) deficiency is a recently defined disease characterized by glycogenosis and a congenital glycosylation disorder caused by recessive mutations in the PGM1 gene. We report a case of a 12-year-old boy with first-cousin parents who was diagnosed with a PGM1 deficiency due to significantly decreased PGM1 activity in his muscle. However, Sanger sequencing revealed no pathogenic mutation in the PGM1 gene in this patient. As this case presented with a cleft palate in addition to hypoglycemia and elevated transaminases and creatine kinase, karyotyping was performed and identified homozygous inv(1)(p31...
May 12, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29745082/correlation-analysis-of-expressions-of-pten-and-p53-with-the-value-obtained-by-magnetic-resonance-spectroscopy-and-apparent-diffusion-coefficient-in-the-tumor-and-the-tumor-adjacent-area-in-magnetic-resonance-imaging-for-glioblastoma
#6
Yunyun Li, Feng Ji, Yuzhi Jiang, Ting Zhao, Chongfu Xu
PURPOSE: To explore the correlation of the expression levels of phosphate and tension homology deleted on chromosome ten (PTEN) and p53 of glioblastoma multiforme (GBM) with the value obtained by magnetic resonance spectroscopy (MRS) and apparent diffusion coefficient (ADC) in the tumor and the tumor-adjacent area in magnetic resonance imaging (MRI). METHODS: A total of 38 patients were operated for GBM. All the patients had received diffusion-weighted imaging (DWI) and MRS prior to surgery...
March 2018: Journal of B.U.ON.: Official Journal of the Balkan Union of Oncology
https://www.readbyqxmd.com/read/29735120/movement-disorders-and-neurometabolic-diseases
#7
Celanie K Christensen, Laurence Walsh
Many inherited metabolic diseases or inborn errors of metabolism (IEM) cause movement disorders in children. This review focuses on chorea, dystonia, myoclonus, tremor, and parkinsonism. Broad neurometabolic categories commonly responsible for pediatric movement disorders include mitochondrial cytopathies, organic acidemias, mineral metabolism and transport disorders, neurotransmitter diseases, purine metabolism abnormalities, lipid storage conditions, and creatine metabolism dysfunction. Each movement disorder can be caused by many IEM and several of them can cause multiple movement abnormalities...
April 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29731937/carnitine-palmitoyltransferase-ii-deficiency-cpt-ii-followed-by-rhabdomyolysis-and-acute-kidney-injury
#8
Nikola Gjorgjievski, Pavlina Dzekova-Vidimliski, Zvezdana Petronijevic, Gjulsen Selim, Petar Dejanov, Liljana Tozija, Aleksandar Sikole
BACKGROUND: Carnitine palmitoyltransferase II deficiency (CPT II) is an autosomal recessive disorder and the most common inherited disorder of mitochondrial long-chain fatty acid oxidation, characterised by attacks of myalgia and myoglobinuria. The most common "classic" myopathic form occurs in young adults and is characterised by recurrent episodes of rhabdomyolysis triggered by prolonged exercise, fasting or febrile illness. CASE PRESENTATION: We present a case of a 22-year-old Caucasian male admitted to our hospital with fever, dyspnea, fatigue, myalgia and dark urine (brown-coloured)...
April 15, 2018: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/29713102/major-depressive-disorder-following-dermatomyositis-a-case-linking-depression-with-inflammation
#9
Abhishek Reddy, Badari Birur, Richard C Shelton, Li Li
Major depressive disorder (MDD) is one of the most common psychiatric disorders. Recent studies have shown a strong association between MDD and peripheral inflammation, shown by a higher incidence of depression in patients with inflammatory diseases including rheumatoid arthritis, inflammatory bowel disease, multiple sclerosis and systemic lupus erythematosus. Dermatomyositis (DM), an idiopathic inflammatory connective tissue disease that is associated with inflammation, predominantly affects the skin and skeletal muscle...
March 13, 2018: Psychopharmacology Bulletin
https://www.readbyqxmd.com/read/29712497/first-trimester-metabolomic-prediction-of-stillbirth
#10
Ray O Bahado-Singh, Argyro Syngelaki, Rupsari Mandal, BeomSoo Han, Liang Li, Trent C Bjorndahl, Nan Wang, Dev Maulik, Edison Dong, Onur Turkoglu, Chiao-Li Tseng, Amna Zeb, Mark Redman, David S Wishart, Kypros H Nicolaides
BACKGROUND: Stillbirth remains a major problem in both developing and developed countries. Omics evaluation of stillbirth has been highlighted as a top research priority. OBJECTIVE: To identify new putative first-trimester biomarkers in maternal serum for stillbirth prediction using metabolomics-based approach. METHODS: Targeted, nuclear magnetic resonance (NMR) and mass spectrometry (MS), and untargeted liquid chromatography-MS (LC-MS) metabolomic analyses were performed on first-trimester maternal serum obtained from 60 cases that subsequently had a stillbirth and 120 matched controls...
April 30, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29710025/-a-survivor-of-hodgkin-lymphoma-manifesting-dropped-head-syndrome-as-a-late-onset-complication-of-radiotherapy-a-case-report
#11
Misako Kaido, Yoshihito Yuasa, Hiroshi Ikeda
We report the case of a 50-year-old female survivor of Hodgkin lymphoma (HL), who developed dropped head syndrome (DHS). The patient was diagnosed with HL at 20 years of age, and underwent chemo-radiotherapy, which led to complete remission. Undergoing supplemental therapy for post-radiation hypothyroidism, she had twin babies. She noticed white stains on her neck at the age of 30, and the decolored area gradually expanded. Sixteen years after the radiotherapy (RT), her posterior neck muscle strength began to decline...
April 28, 2018: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/29691892/congenital-titinopathy-comprehensive-characterisation-and-pathogenic-insights
#12
Emily C Oates, Kristi J Jones, Sandra Donkervoort, Amanda Charlton, Susan Brammah, John E Smith, James S Ware, Kyle S Yau, Lindsay C Swanson, Nicola Whiffin, Anthony J Peduto, Adam Bournazos, Leigh B Waddell, Michelle A Farrar, Hugo A Sampaio, Hooi Ling Teoh, Phillipa J Lamont, David Mowat, Robin B Fitzsimons, Alastair J Corbett, Monique M Ryan, Gina L O'Grady, Sarah A Sandaradura, Roula Ghaoui, Himanshu B Joshi, Jamie L Marshall, Melinda A Nolan, Simranpreet Kaur, Jaya Punetha, Ana Töpf, Elizabeth Harris, Madhura Bakshi, Casie A Genetti, Minttu Marttila, Ulla Werlauff, Nathalie Streichenberger, Alan Pestronk, Ingrid Mazanti, Jason R Pinner, Carole Vuillerot, Carla Grosmann, Ana Camacho, Payam Mohassel, Meganne E Leach, A Reghan Foley, Diana Bharucha-Goebel, James Collins, Anne M Connolly, Heather R Gilbreath, Susan T Iannaccone, Diana Castro, Beryl B Cummings, Richard I Webster, Leïla Lazaro, John Vissing, Sandra Coppens, Nicolas Deconinck, Ho-Ming Luk, Neil H Thomas, Nicola C Foulds, Marjorie A Illingworth, Sian Ellard, Catriona A McLean, Rahul Phadke, Gianina Ravenscroft, Nanna Witting, Peter Hackman, Isabelle Richard, Sandra T Cooper, Erik-Jan Kamsteeg, Eric P Hoffman, Kate Bushby, Volker Straub, Bjarne Udd, Ana Ferreiro, Kathryn N North, Nigel F Clarke, Monkol Lek, Alan H Beggs, Carsten G Bönnemann, Daniel G MacArthur, Henk Granzier, Mark R Davis, Nigel G Laing
OBJECTIVE: Comprehensive clinical characterisation of congenital titinopathy to facilitate diagnosis and management of this important emerging disorder. METHODS: Using massively parallel sequencing we identified 30 patients from 27 families with two pathogenic nonsense, frameshift and/or splice site TTN mutations in trans. We then undertook a detailed analysis of the clinical, histopathology and imaging features of these patients. RESULTS: All patients had prenatal- or early-onset hypotonia and/or congenital contractures...
April 25, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29667260/tai-chi-improves-brain-metabolism-and-muscle-energetics-in-older-adults
#13
Min Zhou, Huijun Liao, Lasya P Sreepada, Joshua R Ladner, James A Balschi, Alexander P Lin
BACKGROUND AND PURPOSE: Tai Chi is a mind-body exercise that has been shown to improve both mental and physical health. As a result, recent literature suggests the use of Tai Chi to treat both physical and psychological disorders. However, the underlying physiological changes have not been characterized. The aim of this pilot study is to assess the changes in brain metabolites and muscle energetics after Tai Chi training in an aging population using a combined brain-muscle magnetic resonance spectroscopy (MRS) examination...
April 17, 2018: Journal of Neuroimaging: Official Journal of the American Society of Neuroimaging
https://www.readbyqxmd.com/read/29651216/linear-analysis-of-autonomic-activity-and-its-correlation-with-creatine-kinase-mb-in-overt-thyroid-dysfunctions
#14
Manisha Mavai, Yogendra Raj Singh, R C Gupta, Sandeep K Mathur, Bharti Bhandari
Autonomic activity may be deranged in thyroid dysfunctions and may lead to cardiovascular morbidity and mortality. Myopathy is a common manifestation in thyroid disorders and may be associated with raised serum creatine kinase (CK). We hypothesized that cardiovascular abnormality in thyroid dysfunction may manifest as raised CK-MB. This study was designed to investigate the correlation of CK and its isoform CK-MB with thyroid profile and linear parameters of heart rate variability (HRV). The study was conducted on 35 hypothyroid and hyperthyroid patients each, and 25 age-matched healthy controls...
April 2018: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/29642926/zidovudine-ameliorates-pathology-in-the-mouse-model-of-duchenne-muscular-dystrophy-via-p2rx7-purinoceptor-antagonism
#15
Rasha Al-Khalidi, Chiara Panicucci, Paul Cox, Natalia Chira, Justyna Róg, Christopher N J Young, Rhiannon E McGeehan, Kameshwari Ambati, Jayakrishna Ambati, Krzysztof Zabłocki, Elisabetta Gazzerro, Stephen Arkle, Claudio Bruno, Dariusz C Górecki
Duchenne muscular dystrophy (DMD) is the most common inherited muscle disorder that causes severe disability and death of young men. This disease is characterized by progressive muscle degeneration aggravated by sterile inflammation and is also associated with cognitive impairment and low bone density. Given that no current treatment can improve the long-term outcome, approaches with a strong translational potential are urgently needed. Duchenne muscular dystrophy (DMD) alters P2RX7 signaling in both muscle and inflammatory cells and inhibition of this receptor resulted in a significant attenuation of muscle and non-muscle symptoms in DMDmdx mouse model...
April 11, 2018: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/29620515/progress-in-the-diagnosis-and-management-of-chorea-acanthocytosis
#16
Yang Liu, Zi-Yuan Liu, Xin-Hua Wan, Yi Guo
Chorea-acanthocytosis (ChAc) is the most common subtype of neuroacanthocytosis syndrome, characterized by the presence of acanthocytes and neurological disorders. It is thought to be caused by VPS13A mutations. Characteristic movement disorders in ChAc is choreiform movements affecting both trunk and extremities and prominent orolingual dyskinesia is pathognomonic. Acanthocytosis in peripheral blood smear, elevated serum creatine kinase and atrophy of heads of caudate nuclei and dilation of the anterior horn of the lateral ventricles in magnetic resonance imaging could assist the diagnosis of ChAc...
March 30, 2018: Chinese Medical Sciences Journal, Chung-kuo i Hsüeh K'o Hsüeh Tsa Chih
https://www.readbyqxmd.com/read/29614965/genetic-analysis-and-clinical-assessment-of-four-patients-with-glycogen-storage-disease-type-iiia-in-china
#17
Yu Zhang, Mingming Xu, Xiaoxia Chen, Aijuan Yan, Guoyong Zhang, Zhenguo Liu, Wenjuan Qiu
BACKGROUND: Glycogen Storage Disease Type III (GSD III) is a rare autosomal recessive metabolic disorder caused by AGL gene mutation. There is significant heterogeneity between the clinical manifestations and the gene mutation of AGL among different ethnic groups. However, GSD III is rarely reported in Chinese population. CASE PRESENTATION: In this study, we aimed to study the genetic and clinical characteristics of four patients with GSD IIIa from China, especially the neurological manifestations...
April 4, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29610182/unusual-presentations-of-dystrophinopathies-in-childhood
#18
Nicholas M Allen, Alice Ewer, Vasiliki Nakou, Ele Konstantoulaki, Elizabeth Wraige, Vasantha Gowda, Heinz Jungbluth
X-linked recessive mutations in the dystrophin gene are one of the most common causes of inherited neuromuscular disorders in humans. Duchenne muscular dystrophy, the most common phenotype, and Becker muscular dystrophy are often recognizable by certain clinical features; however, less frequent presentations require a higher degree of suspicion. In this article, we describe a series of 6 children (4 boys, 2 girls) referred to a tertiary pediatric neuromuscular clinic for isolated elevated creatine kinase levels (range: 720-7000 IU/L) identified on initial assessment for otherwise unexplained transaminase elevations ( n = 2), a social communication disorder ( n = 3), and exertional myalgia and/or rhabdomyolysis ( n = 1)...
April 2018: Pediatrics
https://www.readbyqxmd.com/read/29594644/non-osteogenic-muscle-hypertrophy-in-children-with-mcardle-disease
#19
I Rodríguez-Gómez, A Santalla, J Díez-Bermejo, D Munguía-Izquierdo, L M Alegre, G Nogales-Gadea, J Arenas, M A Martín, A Lucía, I Ara
INTRODUCTION: McArdle disease is an inborn disorder of muscle glycogen metabolism that produces exercise intolerance, and has been recently associated with low values ​​of lean mass (LM) and bone mineral content (BMC) and density (BMD) in affected adults. Here we aimed to study whether this bone health problem begins in childhood. METHODS: Forty children and adolescents were evaluated: 10 McArdle disease and 30 control children (mean age of both groups, 13 ± 2y)...
March 28, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29577809/spectrum-of-neuromuscular-disorders-with-hyperckemia-from-a-tertiary-care-pediatric-neuromuscular-center
#20
Fouad Al-Ghamdi, Basil T Darras, Partha S Ghosh
Elevated creatine kinase is a useful screening test in the diagnostic workup of patients with neuromuscular disorders. We did a retrospective study of children with hyperCKemia (>175 IU/L) who were followed in the neuromuscular program of a tertiary care pediatric center from 2005 to 2016. Patients with hyperCKemia were divided into 2 groups: myopathic and nonmyopathic. Within the myopathic group, there were 3 arbitrary subgroups based on creatine kinase values: A (creatine kinase >10 times normal), B (creatine kinase 5-10 times normal), and C (creatine kinase 1-5 times normal)...
January 1, 2018: Journal of Child Neurology
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