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https://www.readbyqxmd.com/read/28635952/yunis-var%C3%A3-n-syndrome-caused-by-biallelic-vac14-mutations
#1
Matthew A Lines, Yoko Ito, Kristin D Kernohan, Wendy Mears, Julie Hurteau-Miller, Sunita Venkateswaran, Leanne Ward, Karine Khatchadourian, Jeff McClintock, Priya Bhola, Philippe M Campeau, Kym M Boycott, Jean Michaud, André Bp van Kuilenburg, Sacha Ferdinandusse, David A Dyment
Yunis-Varón syndrome (YVS) is an autosomal recessive disorder comprising skeletal anomalies, dysmorphism, global developmental delay and intracytoplasmic vacuolation in brain and other tissues. All hitherto-reported pathogenic variants affect FIG4, a lipid phosphatase involved in phosphatidylinositol (3,5)-bisphosphate [PtdIns(3,5)P2] metabolism. FIG4 interacts with PIKfyve, a lipid kinase, via the adapter protein VAC14; all subunits of the resulting complex are essential for PtdIns(3,5)P2 synthesis in the endolysosomal membrane compartment...
June 21, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28635586/gc-1-a-thyromimetic-with-multiple-therapeutic-applications-in-liver-disease
#2
Amedeo Columbano, Grazia Chiellini, Marta Anna Kowalik
Thyroid hormones, namely 3,5,3'-triiodo-L-thyronine (T3) and 3,5,3',5'-tetraiodo-L-thyronine (thyroxine or T4), influence a variety of physiological processes that have important implications in fetal development, metabolism, cell growth and proliferation. While THs elicit several beneficial effects on lipid metabolism and improve myocardial contractility, these therapeutically desirable effects are associated to a thyrotoxic state, that severely limits the possible use of THs as therapeutic agents. Therefore, several efforts have been made to develop T3 analogues that could retain the beneficial actions (triglyceride, cholesterol, obesity and body mass lowering), without the adverse TH-dependent side effects...
June 13, 2017: Gene Expression
https://www.readbyqxmd.com/read/28633495/estradiol-protects-against-cardio-respiratory-dysfunctions-and-oxidative-stress-in-intermittent-hypoxia
#3
Sofien Laouafa, Alexandra Ribon-Demars, François Marcouiller, Damien Roussel, Aida Bairam, Vincent Pialoux, Vincent Joseph
Study Objectives: We tested the hypothesis that estradiol (E2) protects against cardio-respiratory disorders and oxidative stress induced by chronic intermittent hypoxia (CIH) in adult female rats. Methods: Sprague-Dawley female rats (230-250g) were ovariectomized (OVX) and implanted with osmotic pumps delivering vehicle (Veh) or E2 (0.5 mg/kg/day). After 14 days of recovery, the rats were exposed to chronic CIH (21%-10% O2 - 8 hours/day - 10 cycles/hour) or room air (RA)...
June 19, 2017: Sleep
https://www.readbyqxmd.com/read/28631063/fundamentals-of-and-critical-issues-in-lipid-autacoid-medicine-a-review
#4
REVIEW
Jan M Keppel Hesselink
The identification of a number of families of lipid signal molecules since the 1990s created new therapeutic possibilities for a great number of disorders characterized by chronic inflammation and pain. These lipid autacoids have been explored in a great variety of animal models related to inflammation, pain, (neuro-)protection, and repair. Based on the data from these models, as well as on a number of proof of principle studies in the clinic in indications such as neuropathic pain, a new chapter in medicine is about to begin...
June 19, 2017: Pain and Therapy
https://www.readbyqxmd.com/read/28630870/placental-abca1-expression-is-increased-in-spontaneous-preterm-deliveries-compared-with-iatrogenic-preterm-deliveries-and-term-deliveries
#5
Xie Cheng-Mao, Long Yan, Lin Li, Jin Hua, Wang Xiao-Ju, Zhang Jie-Wen
OBJECTIVE: Abnormal expression of ABCA1 and ABCG1 in the placenta can elicit lipid metabolism disorder and adverse pregnancy outcomes. However, whether it is associated with preterm delivery remains unclear. Our present study aimed to evaluate the relationship between abnormal expression of ABCA1 or ABCG1 and preterm delivery. METHODS: Maternal blood and placental tissues from women with spontaneous deliveries (SPD), iatrogenic deliveries (IPD), and term deliveries (TD) were collected...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28630680/purely-entropic-self-assembly-of-the-bicontinuous-ia3d-gyroid-phase-in-equilibrium-hard-pear-systems
#6
Philipp W A Schönhöfer, Laurence J Ellison, Matthieu Marechal, Douglas J Cleaver, Gerd E Schröder-Turk
We investigate a model of hard pear-shaped particles which forms the bicontinuous Ia[Formula: see text]d structure by entropic self-assembly, extending the previous observations of Barmes et al. (2003 Phys. Rev. E68, 021708. (doi:10.1103/PhysRevE.68.021708)) and Ellison et al. (2006 Phys. Rev. Lett.97, 237801. (doi:10.1103/PhysRevLett.97.237801)). We specifically provide the complete phase diagram of this system, with global density and particle shape as the two variable parameters, incorporating the gyroid phase as well as disordered isotropic, smectic and nematic phases...
August 6, 2017: Interface Focus
https://www.readbyqxmd.com/read/28630030/alzheimer-s-brains-show-inter-related-changes-in-rna-and-lipid-metabolism
#7
Shahar Barbash, Benjamin P Garfinkel, Rotem Maoz, Alon Simchovitz, Bettina Nadorp, Alessandro Guffanti, Estelle R Bennett, Courtney Nadeau, Andreas Türk, Lukas Paul, Torsten Reda, Yan Li, Aron S Buchman, David S Greenberg, Alexander Seitz, David A Bennett, Patrick Giavalisco, Hermona Soreq
Alzheimer's disease (AD) involves changes in both lipid and RNA metabolism, but it remained unknown if these differences associate with AD's cognition and/or post-mortem neuropathology indices. Here, we report RNA-sequencing evidence of inter-related associations between lipid processing, cognition level, and AD neuropathology. In two unrelated cohorts, we identified pathway-enriched facilitation of lipid processing and alternative splicing genes, including the neuronal-enriched NOVA1 and hnRNPA1. Specifically, this association emerged in temporal lobe tissue samples from donors where postmortem evidence demonstrated AD neuropathology, but who presented normal cognition proximate to death...
June 16, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28629341/protective-effects-of-cynara-scolymus-leaves-extract-on-metabolic-disorders-and-oxidative-stress-in-alloxan-diabetic-rats
#8
Maryem Ben Salem, Rihab Ben Abdallah Kolsi, Raouia Dhouibi, Kamilia Ksouda, Slim Charfi, Mahdi Yaich, Serria Hammami, Zouheir Sahnoun, Khaled Mounir Zeghal, Kamel Jamoussi, Hanen Affes
BACKGROUND: Diabetes mellitus (DM) is associated with hyperglycemia, inflammatory disorders and abnormal lipid profiles, currently the extracts from leaves of cynara scolymus has been discovered to treat metabolic disorders and has been stated by multitudinous scientists according to a good source of polyphenols compounds. The present study aimed to evaluate the protective effect of the ethanol leaves extract of C. scolymus in alloxan induced stress oxidant, hepatic-kidney dysfunction and histological changes in liver, kidney and pancreas of different experimental groups of rats...
June 19, 2017: BMC Complementary and Alternative Medicine
https://www.readbyqxmd.com/read/28629326/cardiac-tissue-oxidative-stress-and-inflammation-after-vitamin-d-administrations-in-high-fat-diet-induced-obese-rats
#9
Mahdieh Abbasalizad Farhangi, Ghazaleh Nameni, Ghazaleh Hajiluian, Mehran Mesgari-Abbasi
BACKGROUND: Obesity is associated with numerous metabolic and inflammatory disorders. The current study was aimed to evaluate the effects of vitamin D administration on the markers of oxidative stress and inflammation in the cardiac tissue of high-fat diet induced obese rats. METHODS: In the beginning of the study, 40 male Wistar rats were divided into two groups: normal diet (ND) and high fat diet (HFD) for 16 weeks; then each group subdivided into two groups including: ND, ND + vitamin D, HFD and HFD + vitamin D...
June 19, 2017: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/28629292/increased-blood-pressures-in-veterans-with-post-traumatic-stress-disorder
#10
Ehsan Moazen-Zadeh, Alireza Khoshdel, Farhad Avakh, Arash Rahmani
Objective Veterans of war affected by posttraumatic stress disorder (PTSD) are at increased risk for cardiovascular diseases. We aimed to compare brachial and central blood pressures between veterans with PTSD and controls. Method In this case-control study on veterans of Iran-Iraq war, 50 veterans with PTSD and 50 veterans as controls were selected from an outpatient clinic and matched for age ±3 years. Exclusion criteria were malignancies, severe anatomical defects such as amputated extremities, history of PTSD before serving in war, comorbid psychiatric disorders other than anxiety or depressive disorders...
August 2016: International Journal of Psychiatry in Medicine
https://www.readbyqxmd.com/read/28628626/is-normal-tension-glaucoma-a-risk-factor-for-stroke-a-10-year-follow-up-study
#11
Meng-Sheng Lee, Li-Lin Kuo, Elise Chia-Hui Tan, Oscar K Lee
OBJECTIVES: To investigate whether patients with normal-tension glaucoma (NTG) have a higher incidence of stroke. DESIGN: A population-based retrospective cohort study based on data from the Taiwan National Health Insurance Research Database (NHIRD) from January 1, 2001, to December 31, 2010. METHODS: Data were retrospectively collected from the NHIRD. A total of 245 (20.1%) patients with a history of stroke at the time of glaucoma diagnosis were excluded, and 1,218 patients with NTG who were 20 years of age and older were identified...
2017: PloS One
https://www.readbyqxmd.com/read/28628327/impact-of-the-niemann-pick-c1-gene-mutation-on-the-total-cellular-glycomics-of-cho-cells
#12
Jun-Ichi Furukawa, Minami Soga, Kazue Okada, Ikuko Yokota, Jinhua Piao, Tetsumi Irie, Takumi Era, Yasuro Shinohara
Niemann-Pick disease type C (NPC) is an autosomal recessive lipid storage disorder, and the majority of cases are caused by mutations in the NPC1 gene. In this study, we clarified how a single gene mutation in the NPC1 gene impacts the cellular glycome by analyzing the total glycomic expression profile of Chinese hamster ovary cell mutants defective in the Npc1 gene (Npc1 KO CHO cells). A number of glycomic alterations were identified, including increased expression of lactosylceramide, GM1, GM2, GD1, various neolacto-series glycosphingolipids, and sialyl-T (O-glycan), which was found to be the major sialylated protein-bound glycan, as well as various N-glycans, which were commonly both fucosylated and sialylated...
June 19, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/28628255/still-a-reasonable-goal-targeting-cholesterol-in-dialysis-and-advanced-chronic-kidney-disease-patients
#13
EDITORIAL
Gunnar H Heine, Kyrill S Rogacev, Oliver Weingärtner, Gunther Marsche
Chronic kidney disease (CKD) patients have a high burden of cardiovascular disease. In the general population, lipid metabolism disorders, which cause the initiation and progression of atherosclerotic vascular changes, are major targets for preventive and therapeutic strategies in cardiovascular medicine. However, data from large cohort studies and from clinical trials suggest that the treatment guidelines on cardiovascular disease prevention and therapy cannot uncritically be transferred from individuals with intact renal function to CKD patients...
June 19, 2017: Seminars in Dialysis
https://www.readbyqxmd.com/read/28628014/-selection-of-mini-invasive-palliative-decompression-method-in-patients-with-malignant-obstruction-of-biliary-ducts-based-on-the-study-of-biochemical-bile-indexes
#14
M Bykov, R Sepiashvili, V Shchava, S Gobayeva, I Bykov, A Basov
The article gives our own experience in the determination and study of additional laboratory criteria (total lipids, cholesterol, maximum and area chemiluminescence, antioxidant activity) at the local level (in bile) in patients with bile duct obstruction of malignant etiology. Constellation of metabolic disorders allowed to propose an original method for determining the lithogenicity of bile (integral indicator of lithogenicity). The obtained data made it possible to justify the need to assess the degree of metabolic disturbances in bile, on the basis of which it is possible to predict the risk of lithogenesis and the duration of stent operation, which in turn helped optimize the algorithm for choosing the method of bile ducts decompression aimed at preventing early obturation of endoprostheses...
May 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28627652/eriodictyol-7%C3%A2-o%C3%A2-%C3%AE-%C3%A2-d-glucopyranoside-from-coreopsis%C3%A2-tinctoria-nutt-ameliorates-lipid-disorders-via-protecting-mitochondrial-function-and-suppressing-lipogenesis
#15
Yuyan Liang, Hai Niu, Limei Ma, Dan Du, Li Wen, Qing Xia, Wen Huang
Coreopsis tinctoria (snow chrysanthemum) has been reported to exert antihyperlipidemic effects. The present study aimed to identify the active compounds of Coreopsis tinctoria and to investigate the molecular mechanisms underlying its effects on lipid dysregulation by measuring lipid levels, reactive oxygen species, lipid peroxidation and fatty acid synthesis. The present results demonstrated that snow chrysanthemum aqueous extracts significantly reduced serum lipid levels and oxidative stress in vivo. The main compounds that were isolated were identified as flavanomarein (compound 1) and eriodictyol 7‑O‑β‑D glucopyranoside (compound 2)...
June 9, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28627446/lipid-profile-and-suicide-attempt-in-bipolar-disorder-a-meta-analysis-of-published-and-unpublished-data
#16
Francesco Bartoli, Carmen Di Brita, Cristina Crocamo, Massimo Clerici, Giuseppe Carrà
Evidence suggests an association between low lipid levels and suicidality in subjects with severe mental disorders. This is the first systematic review and meta-analysis aimed at exploring differences in lipid profile between suicide attempters and non-attempters specifically with bipolar disorder. We included observational studies providing comparative cross-sectional data on total cholesterol, LDL-cholesterol and triglycerides levels. We searched main Electronic Databases, identifying eleven studies that met our inclusion criteria, including also unpublished data...
June 13, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28626941/binding-of-canonical-wnt-ligands-to-their-receptor-complexes-occurs-in-ordered-plasma-membrane-environments
#17
Erdinc Sezgin, Yagmur Azbazdar, Xue Wen Ng, Cathleen Teh, Kai Simons, Gilbert Weidinger, Thorsten Wohland, Christian Eggeling, Gunes Ozhan
While the cytosolic events of Wnt/β-catenin signaling (canonical Wnt signaling) pathway have been widely studied, only little is known about the molecular mechanisms involved in Wnt binding to its receptors at the plasma membrane. Here, we reveal the influence of the immediate plasma membrane environment on the canonical Wnt-receptor interaction. While the receptors are distributed both in ordered and disordered environments, Wnt binding to its receptors selectively occurs in more ordered membrane environments which appear to co-internalize with the Wnt-receptor complex...
June 19, 2017: FEBS Journal
https://www.readbyqxmd.com/read/28626787/5-ht2a-receptor-deficiency-alters-the-metabolic-and-transcriptional-but-not-the-behavioral-consequences-of-chronic-unpredictable-stress
#18
Minal Jaggar, Noelia Weisstaub, Jay A Gingrich, Vidita A Vaidya
Chronic stress enhances risk for psychiatric disorders, and in animal models is known to evoke depression-like behavior accompanied by perturbed neurohormonal, metabolic, neuroarchitectural and transcriptional changes. Serotonergic neurotransmission, including serotonin2A (5-HT2A) receptors, have been implicated in mediating specific aspects of stress-induced responses. Here we investigated the influence of chronic unpredictable stress (CUS) on depression-like behavior, serum metabolic measures, and gene expression in stress-associated neurocircuitry of the prefrontal cortex (PFC) and hippocampus in 5-HT2A receptor knockout (5-[Formula: see text]) and wild-type mice of both sexes...
December 2017: Neurobiology of Stress
https://www.readbyqxmd.com/read/28626208/posttraumatic-stress-disorder-eliminates-association-of-trkb-rs1187327-with-hdl-c-in-chinese-han-adolescents
#19
Ting Cao, Qiwei Guo, Mi Su, Yue Feng, Mei Fan, Yanjun Si, Nazakat H Memon, Jia Lin, Dingzhi Fang
Tropomyosin-related kinase receptor B (TrkB) has been observed to be a common player in posttraumatic stress disorder (PTSD) and the regulation of serum lipids levels. However, interplays of PTSD with TrkB on serum lipids levels have not been explored yet. This study was to investigate the interplays of PTSD and TrkB rs1187327 on serum lipid profiles. Variants of TrkB rs1187327 of 709 high school students were identified by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analyses and verified by DNA sequencing...
June 18, 2017: Bioscience Trends
https://www.readbyqxmd.com/read/28626141/dietary-starfish-oil-prevents-hepatic-steatosis-and-hyperlipidemia-in-c57bl-6n-mice-fed-high-fat-diet
#20
Fumiaki Beppu, Haoqi Li, Kazuaki Yoshinaga, Toshiharu Nagai, Akihiko Yoshinda, Atsushi Kubo, Jota Kanda, Naohiro Gotoh
Starfish oil (SO) is characterized by functional lipids, including n-3 polyunsaturated fatty acid (both in the form of triacylglycerol and in the form of phospholipid), and carotenoids, which may exert beneficial effects on metabolic disorders in obesity-associated diseases. In the present study, the effect of SO on dysregulation of lipid metabolism was examined using C57BL/6N mice treated with high-fat (HF) diet. Mice were fed HF, HF with 2% SO, or HF with 5% SO diet for 8 weeks. Weight gain, blood glucose, serum and hepatic lipid contents, and hepatic fatty acid composition were measured...
June 13, 2017: Journal of Oleo Science
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