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https://www.readbyqxmd.com/read/29138588/rai1-gene-mutations-mechanisms-of-smith-magenis-syndrome
#1
REVIEW
Mariateresa Falco, Sonia Amabile, Fabio Acquaviva
Smith-Magenis syndrome (SMS; OMIM #182290) is a complex genetic disorder characterized by distinctive physical features, developmental delay, cognitive impairment, and a typical behavioral phenotype. SMS is caused by interstitial 17p11.2 deletions, encompassing multiple genes and including the retinoic acid-induced 1 gene (RAI1), or by mutations in RAI1 itself. About 10% of all the SMS patients, in fact, carry an RAI1 mutation responsible for the phenotype. RAI1 (OMIM *607642) is a dosage-sensitive gene expressed in many tissues and highly conserved among species...
2017: Application of Clinical Genetics
https://www.readbyqxmd.com/read/29138557/improving-intestinal-absorption-and-oral-bioavailability-of-curcumin-via-taurocholic-acid-modified-nanostructured-lipid-carriers
#2
Cihui Tian, Sajid Asghar, Yifan Wu, Zhipeng Chen, Xin Jin, Lining Yin, Lin Huang, Qineng Ping, Yanyu Xiao
The expression of multiple receptors on intestinal epithelial cells enables an actively targeted carrier to significantly enhance the oral delivery of payloads. Conjugating the receptors' ligands on the surfaces of a particulate-delivery system allows site-specific targeting. Here, we used taurocholic acid (TCA) as a ligand for uptake of nanostructured lipid carriers (NLCs) mediated by a bile-acid transporter to improve oral bioavailability of curcumin (Cur). First, synthesis of TCA-polyethylene glycol 100-monostearate (S100-TCA) was carried out...
2017: International Journal of Nanomedicine
https://www.readbyqxmd.com/read/29135717/traditional-versus-hybrid-outpatient-cardiac-rehabilitation-a-comparison-of-patient-outcomes
#3
Jacqueline Gabelhouse, Neil Eves, Sherry L Grace, R Colin Reid, Cristina M Caperchione
PURPOSE: Due to the suboptimal uptake of cardiac rehabilitation (CR), alternative models have been proposed. This study compared the effectiveness of a traditional supervised program in a medical setting versus a hybrid CR model, where patients transition to unsupervised programming. METHODS: This was a prospective, 2-arm, nonrandomized study. Health-related quality of life (HRQoL), functional capacity, physical activity, diet, smoking, blood pressure, lipids, blood glucose, anthropometrics, and depressive symptoms were assessed before and after the 8-week program models...
November 9, 2017: Journal of Cardiopulmonary Rehabilitation and Prevention
https://www.readbyqxmd.com/read/29132429/characterization-of-skin-function-associated-with-obesity-and-specific-correlation-to-local-systemic-parameters-in-american-women
#4
Shinobu Mori, Akiko Shiraishi, Karen Epplen, Desiree Butcher, Daiki Murase, Yuka Yasuda, Takatoshi Murase
BACKGROUND: Obesity is considered problematic not only as a major cause of diabetes, hypertension, and dyslipidemia, but also as a risk of intractable dermatosis; however influence of obesity on skin function has not been clarified. To clarify the mechanism of obesity-associated skin disorders, we aimed to characterize the skin function of subjects with obesity, and identify possible influencing factors. METHODS: Complex analyses including instrumental measurement, biochemical and lipidomics were performed for facial skin and physical evaluation in 93 Caucasian women with obesity (OB) and non-obesity (NOB)...
November 13, 2017: Lipids in Health and Disease
https://www.readbyqxmd.com/read/29132372/hepatitis-b-virus-inhibits-the-in-vivo-and-in-vitro-synthesis-and-secretion-of-apolipoprotein-c3
#5
Chengliang Zhu, Hengcheng Zhu, Hui Song, Limin Xu, Longxuan Li, Fang Liu, Xinghui Liu
BACKGROUND: Hepatitis B virus (HBV) infection in the body can damage liver cells and cause disorders in blood lipid metabolism. Apolipoprotein C3 (ApoC3) plays an important role in the regulation of lipid metabolism, but no study on the HBV regulation of ApoC3 has been reported. This purpose of this study was to investigate the effect of HBV on ApoC3 expression and its regulatory mechanism. METHODS: The expression levels of ApoC3 mRNA and protein in the human hepatoma cell lines HepG2 and HepG2...
November 13, 2017: Lipids in Health and Disease
https://www.readbyqxmd.com/read/29131365/gut-microbiota-and-body-composition-in-anorexia-nervosa-inpatients-in-comparison-to-athletes-overweight-obese-and-normal-weight-controls
#6
Sabrina Mörkl, Sonja Lackner, Wolfram Müller, Gregor Gorkiewicz, Karl Kashofer, Andreas Oberascher, Annamaria Painold, Anna Holl, Peter Holzer, Andreas Meinitzer, Harald Mangge, Sandra Holasek
OBJECTIVES: Anorexia nervosa (AN) is a heterogeneous eating disorder associated with alterations of body structure and the gut microbiome. We aimed to investigate the gut microbiota composition of a large female cohort including different BMI groups and activity levels along with body composition parameters. METHOD: 106 female participants were included in this cross-sectional study: AN patients (n = 18), athletes (n = 20), normal weight (n = 26), overweight (n = 22), and obese women (n = 20)...
November 13, 2017: International Journal of Eating Disorders
https://www.readbyqxmd.com/read/29130051/the-effect-of-a-12-week-health-training-program-on-selected-anthropometric-and-biochemical-variables-in-middle-aged-women
#7
Wanda Pilch, Łukasz Tota, Ewa Sadowska-Krępa, Anna Piotrowska, Magdalena Kępińska, Tomasz Pałka, Adam Maszczyk
Regular moderate physical activity positively affects health, fitness, and body composition; it regulates the pro- and anti-inflammatory cytokines levels. Vitamin D plays an important regulatory role; its adequate levels correlate with low values of inflammation markers and an increase in muscle strength and fitness in exercising people. The study's aim was to evaluate changes in somatic variables, oxidative stress, and inflammation markers, as well as blood calcidiol concentration in middle-aged healthy women after 12 weeks of aerobics classes-endurance exercises, including choreographic sequences, aiming to improve fitness and motor coordination...
2017: BioMed Research International
https://www.readbyqxmd.com/read/29126915/steps-moderate-to-vigorous-physical-activity-and-cardiometabolic-profiles
#8
Samantha Hajna, Nancy A Ross, Kaberi Dasgupta
The relative benefits of meeting the current moderate-to-vigorous intensity physical activity (MVPA) and 'active' step count recommendations are unknown. Using robust linear regressions, we compared cardiometabolic marker differences (blood pressure, lipid levels, Homeostatic Model Assessment of Insulin Resistance (HOMA-IR), hemoglobin A1C, C-reactive protein (CRP), and body mass index (BMI)) across MVPA (150min/week) and step (10,000 steps/day) thresholds and between step categories (low active: 5000 to 7499, somewhat active: 7500 to 9999, and active: ≥10,000 steps/day vs...
November 7, 2017: Preventive Medicine
https://www.readbyqxmd.com/read/29119548/association-of-total-cholesterol-low-density-lipoprotein-cholesterol-and-non-high-density-lipoprotein-cholesterol-with-atherosclerotic-cardiovascular-disease-and-cancer-in-a-chinese-male-population
#9
Xu-Min Guan, Shou-Ling Wu, Xiao-Lei Yang, Xu Han, Yi-Heng Yang, Xin-Tao Li, BinWaleed Khalid, Yue Du, Si-Yan Zhan, Ying Liu, Hui-Hua Li, Yun-Long Xia
Objective The objective of this study was to investigate the association between total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), and non-high-density lipoprotein cholesterol (non-HDL-C) with atherosclerotic cardiovascular disease (ASCVD) or cancer in a male population in the Kailuan cohort of China. Methods This prospective study included 68,769 Chinese male adults from Kailuan cohort of China who had a standardized medical examination between 2006 and 2007 and were followed up for approximately 8 years until occurrence of ASCVD, cancer or death or until December 31, 2014...
November 9, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/29117103/development-and-physico-chemical-characterization-of-a-shea-butter-containing-lipid-nutrition-supplement-for-sub-saharan-africa
#10
Elizabeth M Sloffer, Shashank Gaur, Nicki J Engeseth, Juan E Andrade
Lipid-based nutrient supplements (LNS) are used to prevent and treat moderate and severe acute malnutrition, a leading cause of mortality in children-under-five. The physical and chemical changes of two new LNS products were evaluated before and after accelerated shelf life testing (ASLT) according to protocols suggested by the U.S. Agency for International Development (USAID) and Doctors without Borders and compared against USAID's A-20 paste as a control. LNS formulas containing Shea butter from the Shea nut tree (Vitellaria paradoxa), a common fat source in parts of Sub-Saharan Africa, with and without flax-seed oil, as a source of omega-3 fatty acids, were developed...
November 8, 2017: Foods (Basel, Switzerland)
https://www.readbyqxmd.com/read/29110806/masturbation-to-orgasm-stimulates-the-release-of-the-endocannabinoid-2-arachidonoylglycerol-in-humans
#11
Johannes Fuss, Laura Bindila, Klaus Wiedemann, Matthias K Auer, Peer Briken, Sarah V Biedermann
BACKGROUND: Endocannabinoids are critical for rewarding behaviors such as eating, physical exercise, and social interaction. The role of endocannabinoids in mammalian sexual behavior has been suggested because of the influence of cannabinoid receptor agonists and antagonists on rodent sexual activity. However, the involvement of endocannabinoids in human sexual behavior has not been studied. AIM: To investigate plasma endocannabinoid levels before and after masturbation in healthy male and female volunteers...
November 2017: Journal of Sexual Medicine
https://www.readbyqxmd.com/read/29109056/sod2-gene-polymorphism-may-modulate-biochemical-responses-to-a-12-week-swimming-training
#12
Ewa Jówko, Wilhelm Gromisz, Jerzy Sadowski, Igor Cieśliński, Jadwiga Kotowska
The aim of the study was to analyze the effect of SOD2 Val16Ala polymorphism on blood biochemical response to chronic swimming training. Healthy men (students of physical education) participated in a swimming training program (ST group) or served as a control group (CON group). The swimming training program lasted 12 weeks (1.5h per day; 4 days per week). Fasting blood samples were obtained prior to (pre) and after (post) a 12-week study period, to measure the biomarkers of oxidative stress, muscle damage and lipid profile...
November 3, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/29107647/muscle-protective-effects-of-schisandrae-fructus-extracts-in-old-mice-after-chronic-forced-exercise
#13
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/29096375/solid-lipid-nanoparticles-for-delivery-of-andrographolide-across-the-blood-brain-barrier-in-vitro-and-in-vivo-evaluation
#14
Giulia Graverini, Vieri Piazzini, Elisa Landucci, Daniela Pantano, Pamela Nardiello, Fiorella Casamenti, Domenico E Pellegrini-Giampietro, Anna Rita Bilia, Maria Camilla Bergonzi
Andrographolide is a major diterpenoid of Andrographis paniculata and possesses several biological activities, including protection against oxidative stress mediated neurotoxicity, inflammation-mediated neurodegeneration, and cerebral ischemia. However, this molecule shows low bioavailability, poor water solubility, and high chemical and metabolic instability. The present study reports preparation of solid lipid nanoparticles (SLN) to deliver andrographolide (AG) into the brain. SLN were prepared using Compritol 888 ATO as solid lipid and Brij 78 as surfactant and applying emulsion/evaporation/solidifying method as preparative procedure...
October 27, 2017: Colloids and Surfaces. B, Biointerfaces
https://www.readbyqxmd.com/read/29096061/clustered-versus-uniform-display-of-gala-peptides-on-carrier-nanoparticles-enhancing-the-permeation-of-noncharged-fluid-lipid-membranes
#15
Trevan Locke, Stavroula Sofou
GALA-peptide is a random coil in neutral pH; in acidic pH, it becomes an amphipathic α-helix that aggregates in solution, possibly via its hydrophobic facet that runs along the helix's long axis. In the presence of fluid lipid membranes, the GALA-helix exhibits membrane-active properties that originate from the same hydrophobic facet; these properties make GALA a candidate for inclusion in drug delivery systems requiring permeation of the endosomal membrane to enable drug escape into the cytoplasm. Previous work has shown that the uniform functionalization of carrier nanoparticles with GALA-peptides improved their membrane activity and enhanced the endosomal escape of delivered therapeutics...
November 13, 2017: Langmuir: the ACS Journal of Surfaces and Colloids
https://www.readbyqxmd.com/read/29091709/bi-cultural-dynamics-for-risk-and-protective-factors-for-cardiometabolic-health-in-an-alaska-native-yup-ik-population
#16
Jacques Philip, Tove K Ryman, Scarlett E Hopkins, Diane M O'Brien, Andrea Bersamin, Jeremy Pomeroy, Kenneth E Thummel, Melissa A Austin, Bert B Boyer, Kirk Dombrowski
Alaska Native people experience disparities in mortality from heart disease and stroke. This work attempts to better understand the relationships between socioeconomic, behavioral, and cardiometabolic risk factors among Yup'ik people of southwestern Alaska, with a focus on the role of the socioeconomic, and cultural components. Using a cross-sectional sample of 486 Yup'ik adults, we fitted a Partial Least Squares Path Model (PLS-PM) to assess the associations between components, including demographic factors [age and gender], socioeconomic factors [education, economic status, Yup'ik culture, and Western culture], behavioral factors [diet, cigarette smoking and smokeless tobacco use, and physical activity], and cardiometabolic risk factors [adiposity, triglyceride-HDL and LDL lipids, glycemia, and blood pressure]...
2017: PloS One
https://www.readbyqxmd.com/read/29081791/physical-interactions-and-expression-quantitative-traits-loci-identify-regulatory-connections-for-obesity-and-type-2-diabetes-associated-snps
#17
Tayaza Fadason, Cameron Ekblad, John R Ingram, William S Schierding, Justin M O'Sullivan
The mechanisms that underlie the association between obesity and type 2 diabetes are not fully understood. Here, we investigated the role of the 3D genome organization in the pathogeneses of obesity and type-2 diabetes. We interpreted the combined and differential impacts of 196 diabetes and 390 obesity associated single nucleotide polymorphisms (SNPs) by integrating data on the genes with which they physically interact (as captured by Hi-C) and the functional [i.e., expression quantitative trait loci (eQTL)] outcomes associated with these interactions...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/29078354/enhanced-antibacterial-activity-through-the-controlled-alignment-of-graphene-oxide-nanosheets
#18
Xinglin Lu, Xunda Feng, Jay R Werber, Chiheng Chu, Ines Zucker, Jae-Hong Kim, Chinedum O Osuji, Menachem Elimelech
The cytotoxicity of 2D graphene-based nanomaterials (GBNs) is highly important for engineered applications and environmental health. However, the isotropic orientation of GBNs, most notably graphene oxide (GO), in previous experimental studies obscured the interpretation of cytotoxic contributions of nanosheet edges. Here, we investigate the orientation-dependent interaction of GBNs with bacteria using GO composite films. To produce the films, GO nanosheets are aligned in a magnetic field, immobilized by cross-linking of the surrounding matrix, and exposed on the surface through oxidative etching...
October 26, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29068582/prevalence-of-cardiovascular-disease-risk-factors-among-pharmacy-students-from-wroclaw-medical-university-poland
#19
Rafał Ilow, Dorota Różańska, Bożena Regulska-Ilow
BACKGROUND: Atherosclerotic processes begin in childhood and their development worsens during adolescence. Early prevention of CVD risk factors may have an important impact on the future health of young people. It can be also helpful in reducing the costs of treating CVD later in life. OBJECTIVES: The aim of this study was to assess the prevalence of selected cardiovascular disease risk factors among pharmacy students. MATERIAL AND METHODS: The study group consisted of 1,168 pharmacy students (892 women and 276 men) from Wroclaw Medical University...
August 2017: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/29063751/tannic-acid-fe-3-ag-nanofilm-exhibiting-superior-photodynamic-and-physical-antibacterial-activity
#20
Ziqiang Xu, Xiuhua Wang, Xiangmei Liu, Zhenduo Cui, Xianjin Yang, Kelvin Wai Kwok Yeung, Jonathan Chiyuen Chung, Paul K Chu, Shuilin Wu
Silver nanoparticles (AgNPs) enwrapped in the biologically safe tannic acid (TA)/Fe(3+) nanofilm are synthesized by an ultrafast, green, simple, and universal method. The physical antibacterial activity and photodynamic antibacterial therapy (PAT) efficacy of the TA/Fe(3+)/AgNPs nanofilm were investigated for the first time, which exhibited a strong physical antibacterial activity as well as great biocompatibility, through in vitro and in vivo studies. The results disclosed that this hybrid coating could possess high PAT capabilities upon irradiation under a visible light of 660 nm, which is longer than those of previously reported green and blue sensitization light, thus allowing deeper light penetration into biological tissues...
November 1, 2017: ACS Applied Materials & Interfaces
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