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Creatine disorders

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https://www.readbyqxmd.com/read/28698056/daboia-vipera-palaestinae-envenomation-in-horses-clinical-and-hematological-signs-risk-factors-for-mortality-and-construction-of-a-novel-severity-scoring-system
#1
Sharon Tirosh-Levy, Reut Solomovich, Judith Comte, Gila A Sutton, Amir Steinman
Daboia palaestinae is the most common venomous snake in Israel and an important cause of envenomations in humans and animals. Although specific antivenom is produced from horses, little documentation exists regarding the characteristics of envenomed horses. This survey was constructed to describe the clinical, hematological and biochemical characteristics of D. palaestinae envenomation in horses, to identify risk factors for fatality and to construct a prognostic snakebite severity scale (SSS) to be used by veterinarians in the field...
July 8, 2017: Toxicon: Official Journal of the International Society on Toxinology
https://www.readbyqxmd.com/read/28687435/evaluation-of-coexisting-polymyositis-in-feline-myasthenia-gravis-a-case-series
#2
Vincent Mayousse, Aurélien Jeandel, Nicolas Blanchard-Gutton, Catherine Escriou, Kirsten Gnirs, G Diane Shelton, Stéphane Blot
Acquired myasthenia gravis (MG) is relatively uncommon in cats. In humans, MG may be associated with other immune-mediated disorders, in particular polymyositis (PM). In this study, we described in-depth electrodiagnostic findings and pathological changes in muscles of cats diagnosed with MG, and assessed the presence of concurrent PM. Six cats with confirmed acetylcholine receptor antibody seropositive MG, and two suspected cases with clinical signs and electrophysiological changes consistent with MG, were reviewed...
June 16, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28682862/evidence-of-direct-cardiac-damage-following-high-intensity-exercise-in-chronic-energy-restriction-a-case-report-and-literature-review
#3
Marianne F Baird, Fergal Grace, Nicholas Sculthorpe, Scott M Graham, Audrey Fleming, Julien S Baker
RATIONALE: Following prolonged endurance events such as marathons, elevated levels of cardiospecific biomarkers are commonly reported. Although transiently raised levels are generally not considered to indicate clinical myocardial damage, comprehension of this phenomenon remains incomplete. The popularity of high-intensity interval training highlights a paucity of research measuring cardiac biomarker response to this type of exercise. This a posteriori case report discusses the elevation of cardiac troponins (cTn) associated with short interval, high-intensity exercise...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28680032/fentanyl-ameliorates-severe-acute-pancreatitis-induced-myocardial-injury-in-rats-by-regulating-nf-%C3%AE%C2%BAb-signaling-pathway
#4
Yayun Wang, Manhua Chen
BACKGROUND Acute pancreatitis (AP) is a sudden inflammation of the pancreas. It results in multiple, severe complications, and 15-20% of patients develop severe acute pancreatitis (SAP) with mortality as high as 30%. Consequently, it is imperative to develop an effective therapy for SAP. MATERIAL AND METHODS We used 30 adult male Sprague Dawley (SD) rats. Rats were randomly divided into 3 groups - sham, SAP, and fentanyl+SAP - with 10 rats in each group. An automatic biochemical analyzer was used to analyze the concentration of creatine kinase isoenzyme (CK-MB) and lactate dehydrogenase (LDH)...
July 6, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28678429/global-brain-metabolic-quantification-with-whole-head-proton-mrs-at-3%C3%A2-t
#5
Ivan I Kirov, William E Wu, Brian J Soher, Matthew S Davitz, Jeffrey H Huang, James S Babb, Mariana Lazar, Girish Fatterpekar, Oded Gonen
Total N-acetyl-aspartate + N-acetyl-aspartate-glutamate (NAA), total creatine (Cr) and total choline (Cho) proton MRS ((1) H-MRS) signals are often used as surrogate markers in diffuse neurological pathologies, but spatial coverage of this methodology is limited to 1%-65% of the brain. Here we wish to demonstrate that non-localized, whole-head (WH) (1) H-MRS captures just the brain's contribution to the Cho and Cr signals, ignoring all other compartments. Towards this end, 27 young healthy adults (18 men, 9 women), 29...
July 5, 2017: NMR in Biomedicine
https://www.readbyqxmd.com/read/28663159/synchronous-solid-pseudopapillary-tumor-and-insulinoma-in-an-adolescent-men1-patient-presenting-with-diagnostic-dilemmas
#6
Ahmet Uçar, Banu Özgüven, Muharrem Battal, Felda Alpaslan, Evrim Özmen, Aylin Yetim, Yasin Yılmaz
Multiple endocrine neoplasia (MEN1) is a rare autosomal dominant disorder characterized by primary hyperparathyroidism, enteropancreatic neuroendocrine tumors, and anterior pituitary adenomas. A 16-year-old male presented to the emergency outpatient clinic with tonic convulsions. Physical examination in the postconvulsive period was unremarkable and revealed a muscular, postpubertal adolescent. Biochemical tests at admission were consistent with hyperinsulinemic hypoglycemia and remarkable for elevated levels of liver transaminases and creatine kinase...
June 30, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28660750/urinary-manifestations-in-isaacs-s-syndrome-our-experience-in-8-cases
#7
Silvia N Gonzalez Primomo, Leandro Blas, Alicia C Bertotti, Carlos Ameri
INTRODUCTION: Isaacs's syndrome (IS), is a rare neurological disorder, characterized by sustained muscular activity, fasciculations, cramps, myokymia, excessive sweating, and occasional elevation of creatine phosphokinase (CPK) enzyme. AIM: To report our experience in patients with IS and urinary manifestations, describing clinical findings, test's results, and response to treatment. Methods An observational, retrospective analysis of patients with IS and urinary manifestations treated at German Hospital of Buenos Aires between 2001 and 2011 was done...
June 29, 2017: Neurourology and Urodynamics
https://www.readbyqxmd.com/read/28660228/necrotizing-autoimmune-myopathy-a-rare-variant-of-idiopathic-inflammatory-myopathies
#8
Noman Ahmed Jang Khan, Shaza Khalid, Saad Ullah, Muhammad Umair Malik, Samer Makhoul
Idiopathic inflammatory myopathies are an unusual group of myopathies with annual incidence of 1 in 100 000 people in the United States. Necrotizing autoimmune myopathy comprises only 16% of this group. It usually presents with severe proximal weakness, lower extremity weakness, and severe fatigue while very rarely does it present with dysphagia and respiratory muscle weakness. Statin use, cancer, and connective tissue disorder are the usual associated risk factors. Anti-signal recognition particle and 3-hydroxy-3-methylglutaryl-coenzyme A reductase are the 2 most common autoantibodies associated with necrotizing autoimmune myopathy...
April 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28658866/unusual-presentation-of-atypical-infantile-pompe-disease-in-the-newborn-period-with-left-ventricular-hypertrophy
#9
Sanjay Kumar, Amit Kumar
Pompe disease, also known as glycogen storage disease Type II, is a lysosomal storage disorder caused by α-glucosidase deficiency. In general, the clinical spectrum varies with respect to the age of onset, residual enzyme activity and organ involvement. Infantile onset disease has two subtypes: classical and non-classical (atypical). This case report describes the case of a newborn who presented with generalized hypotonia and elevated serum enzyme levels of aspartate aminotransferase 93 IU/L, lactate dehydrogenase 888 IU/L and creatine kinase 670 μg/L...
May 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28627591/chinese-herbal-medicine-xinji-pill-protects-the-heart-from-ischemia-reperfusion-injury-through-the-akt-nrf2-pathway
#10
Qiuzhen Yuan, Ruiming Chen, Xu Zheng, Maixia Meng, Yuping Kao, Junfeng Liu, Xuefeng Gan, Minjuan Shi, Junming Fu, Shanshan Jiang, Huiyao Yu
The cardioprotective drugs used for treatment against ischemia/reperfusion (MI/R) injury have been well evaluated and are considered inadequate. The Chinese herbal medicine formula, Xinji pill (XJP) has been used traditionally for the prevention and treatment of ischemic heart diseases for decades. In the present study, the cardioprotective effects of XJP against MI/R injury were assessed in vivo and its possible mechanism was examined. Male Sprague‑Dawley rats were selected for establishing an MI/R model, which was induced by ischemia for 30 min followed by 24 h reperfusion...
August 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28620495/familial-partial-lipodystrophy-and-proteinuric-renal-disease-due-to-a-missense-c-1045c%C3%A2-%C3%A2-t-lmna-mutation
#11
Athanasios Fountas, Zoe Giotaki, Evangelia Dounousi, George Liapis, Alexandra Bargiota, Agathocles Tsatsoulis, Stelios Tigas
Proteinuric renal disease is prevalent in congenital or acquired forms of generalized lipodystrophy. In contrast, an association between familial partial lipodystrophy (FPLD) and renal disease has been documented in very few cases. A 22-year-old female patient presented with impaired glucose tolerance, hyperinsulinemia, hirsutism and oligomenorrhea. On examination, there was partial loss of subcutaneous adipose tissue in the face, upper and lower limbs, bird-like facies with micrognathia and low set ears and mild acanthosis nigricans...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28610567/mlpa-identification-of-dystrophin-mutations-and-in-silico-evaluation-of-the-predicted-protein-in-dystrophinopathy-cases-from-india
#12
Sekar Deepha, Seena Vengalil, Veeramani Preethish-Kumar, Kiran Polavarapu, Atchayaram Nalini, Narayanappa Gayathri, Meera Purushottam
BACKGROUND: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive disorders caused by mutations in the DMD gene. The aim of this study was to predict the effect of gene mutations on the dystrophin protein and study its impact on clinical phenotype. METHODS: In this study, 415 clinically diagnosed patients were tested for mutations by Multiplex ligation dependent probe amplification (MLPA). Muscle biopsy was performed in 34 patients with negative MLPA...
June 13, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28606713/rhabdomyolysis-and-coeliac-disease-a-causal-or-casual-association-a-case-report-and-review-of-literature
#13
Claudia Mandato, Alessandro Rossi, Mariano Caldore, Marta Lamba, Michele Rocco, Renata Auricchio, Pietro Vajro, Paolo Siani
BACKGROUND: Rhabdomyolysis is a rare, potentially life-threatening condition, caused by multiple disorders. The association with Coeliac Disease (CD) has been rarely reported and in these cases muscular damage was imputed to hypokalemia. Herein we describe a new case of severe rhabdomyolysis in a child subsequently diagnosed as affected by CD, and review previous reports. CASE PRESENTATION: A 3-year-old boy was referred for diarrhea, brown urine, muscular pain/weakness, and no history of muscular trauma...
June 9, 2017: Clinics and Research in Hepatology and Gastroenterology
https://www.readbyqxmd.com/read/28604469/case-report-of-cardiac-arrest-after-succinylcholine-in-a-child-with-muscle-eye-brain-disease
#14
Thomas Hackmann, David L Skidmore, Brian MacManus
Muscle-eye-brain disease is a rare autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, and brain malformation. We report an intraoperative hyperkalemic cardiac arrest following the administration of succinylcholine in a child with muscle-eye-brain disease. The disease was diagnosed only after this event. Our experience suggests that preoperative determinations of serum concentrations of lactate and creatine kinase may be useful if clinical signs consistent with myopathy are present...
June 8, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28559828/multisystem-disease-including-eosinophilia-and-progressive-hyper-creatine-kinase-emia-over-10-years-suggests-mitochondrial-disorder
#15
Josef Finsterer, Johannes Huber
BACKGROUND: Eosinophilia has not been reported as a manifestation of a mitochondrial disorder (MID). Here, we report a patient with clinical features suggesting a MID and permanent eosinophilia, multisystem disease, and progressive hyper-creatine-kinase (CK)-emia for at least 10 years. MATERIALS AND METHODS: Methods applied included a clinical exam, blood chemical investigations, electrophysiological investigations, imaging, and invasive cardiological investigations...
January 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28551692/when-do-paediatric-patients-with-familial-hypercholesterolemia-need-statin-therapy
#16
Matylda Hennig, Agnieszka Brandt, Joanna Bautembach-Minkowska, Dominik Świętoń, Agnieszka Mickiewicz, Magdalenia Chmara, Bartosz Wasąg, Ewa Kamińska, Anna Balcerska, Janusz Limon, Andrzej Rynkiewicz, Marcin Gruchała, Małgorzata Myśliwiec
INTRODUCTION: Familial hypercholesterolemia (FH) is one of the most common autosomal dominant disorders. It is characterized by elevated LDL cholesterol levels occurring already by early childhood. Awareness of health risks in FH patients should incite health professionals to actively seek and treat children with lipid disorders to reduce their risk of myocardial infarction and stroke. OBJECTIVE: The aim of the study was to evaluate the suitability of taking into account the following parameters: ApoB/ApoA index, IMT and e-tracking examination, when initiating statin therapy in FH patients...
2017: Developmental Period Medicine
https://www.readbyqxmd.com/read/28548710/measurement-of-glycine-in-healthy-and-tumorous-brain-by-triple-refocusing-mrs-at-3%C3%A2-t-in-vivo
#17
Vivek Tiwari, Zhongxu An, Sandeep K Ganji, Jeannie Baxter, Toral R Patel, Edward Pan, Bruce E Mickey, Elizabeth A Maher, Marco C Pinho, Changho Choi
Glycine (Gly) has been implicated in several neurological disorders, including malignant brain tumors. The precise measurement of Gly is challenging largely as a result of the spectral overlap with myo-inositol (mI). We report a new triple-refocusing sequence for the reliable co-detection of Gly and mI at 3 T and for the evaluation of Gly in healthy and tumorous brain. The sequence parameters were optimized with density-matrix simulations and phantom validation. With a total TE of 134 ms, the sequence gave complete suppression of the mI signal between 3...
May 26, 2017: NMR in Biomedicine
https://www.readbyqxmd.com/read/28527566/abnormalities-in-high-energy-phosphate-metabolism-in-first-episode-bipolar-disorder-measured-using-31-p-magnetic-resonance-spectroscopy
#18
Fei Du, Cagri Yuksel, Virginie-Anne Chouinard, Polly Huynh, Kyle Ryan, Bruce M Cohen, Dost Öngür
BACKGROUND: Brain energy metabolism is critical for supporting synaptic function and information processing. A growing body of evidence suggests abnormalities in brain bioenergetics in psychiatric disorders, including both bipolar disorder (BD) and schizophrenia. (31)P magnetic resonance spectroscopy provides a noninvasive window into these processes in vivo. Using this approach, we previously showed that patients with BD show normal adenosine triphosphate (ATP) and phosphocreatine levels at rest but cannot maintain normal ATP levels in the visual cortex during times of high energy demand (photic stimulation)...
April 7, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/28509906/therapeutic-efficacy-of-atypical-antipsychotic-drugs-by-targeting-multiple-stress-related-metabolic-pathways
#19
H L Cai, P Jiang, Q Y Tan, R L Dang, M M Tang, Y Xue, Y Deng, B K Zhang, P F Fang, P Xu, D X Xiang, H D Li, J K Yao
Schizophrenia (SZ) is considered to be a multifactorial brain disorder with defects involving many biochemical pathways. Patients with SZ show variable responses to current pharmacological treatments of SZ because of the heterogeneity of this disorder. Stress has a significant role in the pathophysiological pathways and therapeutic responses of SZ. Atypical antipsychotic drugs (AAPDs) can modulate the stress response of the hypothalamic-pituitary-adrenal (HPA) axis and exert therapeutic effects on stress by targeting the prefrontal cortex (PFC) and hippocampus...
May 16, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28508091/-mr-spectroscopy-in-metabolic-disorders-of-the-brain
#20
REVIEW
U Yilmaz
CLINICAL ISSUE: Metabolic disorders of the brain often present a particular challenge for the neuroradiologist, since the disorders are rare, changes on conventional MR are often non-specific and there are numerous differential diagnoses for the white substance lesions. STANDARD RADIOLOGICAL METHODS: As a complementary method to conventional brain MRI, MR spectroscopy may help to reduce the scope of the differential diagnosis. Entities with specific MR spectroscopy patterns are Canavan disease, maple syrup urine disease, nonketotic hyperglycinemia and creatine deficiency...
June 2017: Der Radiologe
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