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https://www.readbyqxmd.com/read/29141319/-homozygous-ectonucleotide-pyrophosphatase-phosphodiesterase-1-variants-in-a-girl-with-hypophosphatemic-rickets-and-literature-review
#1
Z Q Liu, X B Chen, F Y Song, K Gao, M F Qiu, Y Qian, M Du
Objective: To investigate the clinical features and genetic characteristics of patients with ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene variants. Method: The clinical data of a patient with ENPP1 homozygous variants from Capital Institute of Pediatrics was collected, the related literature was searched from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, National Center from Biotechnology Information and PubMed by using search term "ENPP1" , "hypophosphatemic rickets" ...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29141310/-analysis-of-gene-mutation-of-early-onset-epileptic-spasm-with-unknown-reason
#2
X Yang, G Pan, W H Li, L M Zhang, B B Wu, H J Wang, P Zhang, S Z Zhou
Objective: To summarize the gene mutation of early onset epileptic spasm with unknown reason. Method: In this prospective study, data of patients with early onset epileptic spasm with unknown reason were collected from neurological department of Children's Hospital of Fudan University between March 2016 and December 2016. Patients with known disorders such as infection, metabolic, structural, immunological problems and known genetic mutations were excluded. Patients with genetic disease that can be diagnosed by clinical manifestations and phenotypic characteristics were also excluded...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29141267/-the-revised-version-of-standard-terminology-in-gastroenterological-endoscopy-result-of-a-consensus-project-of-the-german-society-for-gastroenterology-digestive-and-metabolic-diseases
#3
Alexander Meining, Werner Schmidbauer, Brigitte Schumacher, Ulrike Denzer, Martin Keuchel, Ulrich Rosien, Gero Moog, Martin Götz, Hans-Joachim Toermer, Ralf Jacobs, Jürgen Hochberger, Stefan von Delius, Markus M Lerch, Frank Lammert, Till Wehrmann
A uniform and comprehensive terminology is essential in the correct documentation of diagnostic or therapeutic endoscopic procedure. In the German-speaking world, the standard terminology available so far is based on a previous version published in 1999. Therefore, the German Society for Gastroenterology, Digestive and Metabolic Diseases (DGVS) has undergone a comprehensive revision and re-structuring of the terminology. This appeared mandatory due to various changes, new diagnoses and new endoscopic procedures...
November 2017: Zeitschrift Für Gastroenterologie
https://www.readbyqxmd.com/read/29141072/association-of-cetp-gene-variants-with-risk-for-vascular-and-nonvascular-diseases-among-chinese-adults
#4
Iona Y Millwood, Derrick A Bennett, Michael V Holmes, Ruth Boxall, Yu Guo, Zheng Bian, Ling Yang, Sam Sansome, Yiping Chen, Huaidong Du, Canqing Yu, Alex Hacker, Dermot F Reilly, Yunlong Tan, Michael R Hill, Junshi Chen, Richard Peto, Hongbing Shen, Rory Collins, Robert Clarke, Liming Li, Robin G Walters, Zhengming Chen
Importance: Increasing levels of high-density lipoprotein (HDL) cholesterol through pharmacologic inhibition of cholesteryl ester transfer protein (CETP) is a potentially important strategy for prevention and treatment of cardiovascular disease (CVD). Objective: To use genetic variants in the CETP gene to assess potential risks and benefits of lifelong lower CETP activity on CVD and other outcomes. Design, Setting, and Participants: This prospective biobank study included 151 217 individuals aged 30 to 79 years who were enrolled from 5 urban and 5 rural areas of China from June 25, 2004, through July 15, 2008...
November 15, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/29141052/association-between-urinary-manganese-and-blood-pressure-results-from-national-health-and-nutrition-examination-survey-nhanes-2011-2014
#5
Cynthia Wu, Jessica G Woo, Nanhua Zhang
Manganese is a trace mineral required for metabolism, growth and tissue formation, and reproduction. It is mainly obtained through food and water, as well as through occupational exposure. This study used data from National Health and Nutrition Examination Survey, combining the 2011-12 and 2013-14 cycles. We conducted linear regression analyses on urinary manganese and blood pressure. Significant negative associations (p<0.01) between urinary manganese and both systolic and diastolic blood pressure existed after adjusting for age, sex, body mass index, race/ethnicity, and status of taking antihypertensive medication...
2017: PloS One
https://www.readbyqxmd.com/read/29141041/effects-of-a-mixed-berry-beverage-on-cognitive-functions-and-cardiometabolic-risk-markers-a-randomized-cross-over-study-in-healthy-older-adults
#6
Anne Nilsson, Ilkka Salo, Merichel Plaza, Inger Björck
BACKGROUND: Berries and associated bioactive compounds, e.g. polyphenols and dietary fibre (DF), may have beneficial implications with respect to the metabolic syndrome, including also cognitive functions. The aim of this study was to evaluate effects on cognitive functions and cardiometabolic risk markers of 5 wk intervention with a mixture of berries, in healthy humans. METHODS: Forty healthy subjects between 50-70 years old were provided a berry beverage based on a mixture of berries (150g blueberries, 50g blackcurrant, 50g elderberry, 50g lingonberries, 50g strawberry, and 100g tomatoes) or a control beverage, daily during 5 weeks in a randomized crossover design...
2017: PloS One
https://www.readbyqxmd.com/read/29140562/urodynamic-measurements-reflect-physiological-bladder-function-in-rats
#7
Marc P Schneider, Andrea M Sartori, Juliane Tampé, Selina Moors, Anne K Engmann, Benjamin V Ineichen, Anna-Sophie Hofer, Martin E Schwab, Thomas M Kessler
AIMS: Our objective was to investigate and compare bladder function in rats assessed by metabolic cage and by urodynamic measurements in fully awake animals. METHODS: Bladder function of female Lewis rats was investigated in naïve animals by metabolic cage at baseline, 14-16 days after bladder catheter and external urethral sphincter electromyography electrode implantation in fully awake animals by urodynamics, and again by metabolic cage. RESULTS: Investigating the same animals (n = 8), voided volume, average flow, and duration of voiding were similar (P > 0...
November 15, 2017: Neurourology and Urodynamics
https://www.readbyqxmd.com/read/29140435/hmdb-4-0-the-human-metabolome-database-for-2018
#8
David S Wishart, Yannick Djoumbou Feunang, Ana Marcu, An Chi Guo, Kevin Liang, Rosa Vázquez-Fresno, Tanvir Sajed, Daniel Johnson, Carin Li, Naama Karu, Zinat Sayeeda, Elvis Lo, Nazanin Assempour, Mark Berjanskii, Sandeep Singhal, David Arndt, Yonjie Liang, Hasan Badran, Jason Grant, Arnau Serra-Cayuela, Yifeng Liu, Rupa Mandal, Vanessa Neveu, Allison Pon, Craig Knox, Michael Wilson, Claudine Manach, Augustin Scalbert
The Human Metabolome Database or HMDB (www.hmdb.ca) is a web-enabled metabolomic database containing comprehensive information about human metabolites along with their biological roles, physiological concentrations, disease associations, chemical reactions, metabolic pathways, and reference spectra. First described in 2007, the HMDB is now considered the standard metabolomic resource for human metabolic studies. Over the past decade the HMDB has continued to grow and evolve in response to emerging needs for metabolomics researchers and continuing changes in web standards...
November 11, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/29140419/dietary-glutamine-glutamate-and-mortality-two-large-prospective-studies-in-us-men-and-women
#9
Wenjie Ma, Yoriko Heianza, Tao Huang, Tiange Wang, Dianjianyi Sun, Yan Zheng, Frank B Hu, Kathryn M Rexrode, JoAnn E Manson, Lu Qi
Background: Emerging studies have related circulating glutamine metabolites to various chronic diseases such as cardiovascular disease and cancer; diet is the major source of nutrients involved in glutamine metabolism. However, it remains unknown whether dietary intakes of glutamine, glutamate,and their ratio are related to total and cause-specific mortality. Methods: We followed 74 082 women from the Nurses' Health Study (1984-2012) and 42 303 men from the Health Professionals Follow-up Study (1986-2012), who were free of cardiovascular disease and cancer at baseline...
November 13, 2017: International Journal of Epidemiology
https://www.readbyqxmd.com/read/29140397/progress-in-the-understanding-of-the-pathology-of-allergic-asthma-and-the-potential-of-fruit-proanthocyanidins-as-modulators-of-airway-inflammation
#10
REVIEW
Sara L Coleman, Odette M Shaw
Allergic asthma is a chronic inflammatory lung disease characterized by sensitization of the airways, and the development of immunoglobulin E antibodies, to benign antigens. The established pathophysiology of asthma includes recurrent lung epithelial inflammation, excessive mucus production, bronchial smooth muscle hyperreactivity, and chronic lung tissue remodeling, resulting in reversible airflow restriction. Immune cells, including eosinophils and the recently characterized type 2 innate lymphoid cells, infiltrate into the lung tissue as part of the inflammatory response in allergic asthma...
November 15, 2017: Food & Function
https://www.readbyqxmd.com/read/29140312/plasma-amino-acid-abnormalities-in-chronic-heart-failure-mechanisms-potential-risks-and-targets-in-human-myocardium-metabolism
#11
Roberto Aquilani, Maria Teresa La Rovere, Daniela Corbellini, Evasio Pasini, Manuela Verri, Annalisa Barbieri, Anna Maria Condino, Federica Boschi
The goal of this study was to measure arterial amino acid levels in patients with chronic heart failure (CHF), and relate them to left ventricular function and disease severity. Amino acids (AAs) play a crucial role for heart protein-energy metabolism. In heart failure, arterial AAs, which are the major determinant of AA uptake by the myocardium, are rarely measured. Forty-one subjects with clinically stable CHF (New York Heart Association (NYHA) class II to IV) were analyzed. After overnight fasting, blood samples from the radial artery were taken to measure AA concentrations...
November 15, 2017: Nutrients
https://www.readbyqxmd.com/read/29140265/anti-inflammatory-potential-of-1-nitro-2-phenylethylene
#12
Michelle A Sugimoto, Márcia de Jesus Amazonas da Silva, Larissa Froede Brito, Rosivaldo Dos Santos Borges, Flávio Almeida Amaral, Ana Paula de Araujo Boleti, Maritza Echevarria Ordoñez, Jose Carlos Tavares, Lirlandia Pires Sousa, Emerson Silva Lima
Inflammation is a reaction of the host to infectious or sterile stimuli and has the physiological purpose of restoring tissue homeostasis. However, uncontrolled or unresolved inflammation can lead to tissue damage, giving rise to a plethora of chronic inflammatory diseases, including metabolic syndrome and autoimmunity pathologies with eventual loss of organ function. Beta-nitrostyrene and its derivatives are known to have several biological activities, including anti-edema, vasorelaxant, antiplatelet, anti-inflammatory, and anticancer...
November 15, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/29140125/diabetes-area-patent-participation-analysis-part-ii-years-2011-2016
#13
Markus Boehm, Matthew Crawford, Jamie E Moscovitz, Philip A Carpino
Diabetes is a metabolic disease characterized by elevated levels of plasma glucose. When untreated, diabetes increases the risk of developing co-morbidities such as cardiovascular disease. Several drugs, often used as part of combination therapies, have been approved to treat the disease, but these drugs will eventually fail to effectively control blood glucose levels, at which point insulin replacement therapy is required. A medical need exists for new anti-diabetic drugs that exhibit good efficacy with improved safety/toleration profiles and can be added on top of existing therapies, or that can provide additional benefits beyond glucose lowering such as pancreatic beta (β)-cell protection...
November 15, 2017: Expert Opinion on Therapeutic Patents
https://www.readbyqxmd.com/read/29139555/tauroursodeoxycholic-acid-inhibits-intestinal-inflammation-and-barrier-disruption-in-nafld-mice
#14
Weijun Wang, Jinfang Zhao, Wenfang Gui, Dan Sun, Haijiang Dai, Li Xiao, Huikuan Chu, Fan Du, Qingjing Zhu, Bernd Schnabl, Kai Huang, Ling Yang, Xiaohua Hou
BACKGROUND AND PURPOSE: The gut-liver axis is associated with the progression of non-alcoholic fatty liver disease (NAFLD). Targeting the gut-liver axis and bile acid-based pharmaceuticals are potential therapies for NAFLD. The effect of tauroursodeoxycholic acid (TUDCA), a candidate medicine for NAFLD, on intestinal barrier function, intestinal inflammation, gut lipid transport and microbiota composition in a murine NAFLD model were analysed. EXPERIMENTAL APPROACHES: An NAFLD mouse model was established by feeding mice with a high-fat diet (HFD) for 16 weeks...
November 15, 2017: British Journal of Pharmacology
https://www.readbyqxmd.com/read/29139198/factors-affecting-drug-development-strategies-in-asian-global-clinical-trials-for-drug-approval-in-japan
#15
Kunihito Asano, Yoshiaki Uyama, Masahiro Tohkin
We assessed the current status of Asian global clinical trials (GCTs) and factors, such as therapeutic areas, main metabolic enzymes targeted, approval status in the United States or the European Union, development strategies, influencing drug-development strategies in Asian GCTs and in general GCTs for drug approval in Japan. The findings suggested that region-specific diseases in Asia, intrinsic and extrinsic ethnic differences between Japanese/Asian and Caucasian populations, and the status of the drugs' development in the United States or the European Union all affected Asian GCTs...
November 15, 2017: Clinical and Translational Science
https://www.readbyqxmd.com/read/29139087/the-role-of-reactive-oxygen-species-in-adipogenic-differentiation
#16
Danielle de Villiers, Marnie Potgieter, Melvin A Ambele, Ladislaus Adam, Chrisna Durandt, Michael S Pepper
Interest in reactive oxygen species and adipocyte differentiation/adipose tissue function is steadily increasing. This is due in part to a search for alternative avenues for combating obesity, which results from the excess accumulation of adipose tissue. Obesity is a major risk factor for complex disorders such as cancer, type 2 diabetes, and cardiovascular diseases. The ability of mesenchymal stromal/stem cells (MSCs) to differentiate into adipocytes is often used as a model for studying adipogenesis in vitro...
November 15, 2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29139041/drug-safety-analysis-in-a-real-life-cohort-of-parkinson-s-disease-patients-with-polypharmacy
#17
Saskia Müller-Rebstein, Claudia Trenkwalder, Jens Ebentheuer, Wolfgang H Oertel, Carsten Culmsee, Günter U Höglinger
BACKGROUND: Polypharmacy is common in geriatric Parkinson's disease (PD) patients in advanced disease stages with multiple comorbidities, bearing multiple risks for drug safety in theory. OBJECTIVE: The aim of this study was to empirically identify the most frequent and relevant contraindications and drug interactions actually occurring and compromising drug safety in PD in real life. METHODS: We conducted a prospective observational study in a multimorbid cohort of PD patients with polypharmacy admitted to a specialized hospital...
November 14, 2017: CNS Drugs
https://www.readbyqxmd.com/read/29139025/coagulopathy-in-zellweger-spectrum-disorders-a-role-for-vitamin-k
#18
Sara Zeynelabidin, Femke C C Klouwer, Joost C M Meijers, Monique H Suijker, Marc Engelen, Bwee Tien Poll-The, C Heleen van Ommen
INTRODUCTION: Zellweger spectrum disorders (ZSDs) are caused by an impairment of peroxisome biogenesis, resulting in multiple metabolic abnormalities. This leads to a range of symptoms, including hepatic dysfunction and coagulopathy. This study evaluated the incidence and severity of coagulopathy and the effect of vitamin K supplementation orally and IV in ZSD. METHODS: Data were retrospectively retrieved from the medical records of 30 ZSD patients to study coagulopathy and the effect of vitamin K orally on proteins induced by vitamin K absence (PIVKA-II) levels...
November 14, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29138984/11%C3%AE-hydroxysteroid-dehydrogenases-and-hypertension-in-the-metabolic-syndrome
#19
REVIEW
Matthew A Bailey
The metabolic syndrome describes a clustering of risk factors-visceral obesity, dyslipidaemia, insulin resistance, and salt-sensitive hypertension-that increases mortality related to cardiovascular disease, type 2 diabetes, cancer, and non-alcoholic fatty liver disease. The prevalence of these concurrent comorbidities is ~ 25-30% worldwide, and metabolic syndrome therefore presents a significant global public health burden. Evidence from clinical and preclinical studies indicates that glucocorticoid excess is a key causal feature of metabolic syndrome...
November 14, 2017: Current Hypertension Reports
https://www.readbyqxmd.com/read/29138853/role-of-innate-lymphoid-cells-in-obesity-and-metabolic-disease-review
#20
Jirakrit Saetang, Surasak Sangkhathat
The immune system has previously been demonstrated to be associated with the pathophysiological development of metabolic abnormalities. However, the mechanisms linking immunity to metabolic disease remain to be fully elucidated. It has previously been suggested that innate lymphoid cells (ILCs) may be involved in the progression of numerous types of metabolic diseases as these cells act as suppressors and promoters for obesity and associated conditions, and are particularly involved in adipose tissue inflammation, which is a major feature of metabolic imbalance...
November 13, 2017: Molecular Medicine Reports
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