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https://www.readbyqxmd.com/read/28943110/therapies-for-mitochondrial-diseases-and-current-clinical-trials
#1
REVIEW
Ayman W El-Hattab, Ana Maria Zarante, Mohammed Almannai, Fernando Scaglia
Mitochondrial diseases are a clinically and genetically heterogeneous group of disorders that result from dysfunction of the mitochondrial oxidative phosphorylation due to molecular defects in genes encoding mitochondrial proteins. Despite the advances in molecular and biochemical methodologies leading to better understanding of the etiology and mechanism of these diseases, there are still no satisfactory therapies available for mitochondrial disorders. Treatment for mitochondrial diseases remains largely symptomatic and does not significantly alter the course of the disease...
September 18, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28939943/accumulation-of-uraemic-toxins-is-reflected-only-partially-by-estimated-gfr-in-paediatric-patients-with-chronic-kidney-disease
#2
Evelien Snauwaert, Wim Van Biesen, Ann Raes, Els Holvoet, Griet Glorieux, Koen Van Hoeck, Maria Van Dyck, Nathalie Godefroid, Raymond Vanholder, Sanne Roels, Johan Vande Walle, Sunny Eloot
BACKGROUND: Chronic kidney disease (CKD) in childhood is characterised by the accumulation of uraemic toxins resulting in a multisystem disorder that has a negative impact on quality of life. Childhood CKD is predominantly defined by a decrease in glomerular filtration rate, estimated (eGFR) by a single serum measurement of endogenous biomarkers, e.g. creatinine. The objective of this study was to evaluate how accurately eGFR predicts the concentration of uraemic toxins in a paediatric CKD cohort...
September 22, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28935577/human-pancreatic-acinar-cells-proteomic-characterization-physiologic-responses-and-organellar-disorders-in-ex-vivo-pancreatitis
#3
Aurelia Lugea, Richard T Waldron, Olga A Mareninova, Natalia Shalbueva, Nan Deng, Hsin-Yuan Su, Diane D Thomas, Elaina K Jones, Scott W Messenger, Jiayue Yang, Cheng Hu, Ilya Gukovsky, Zhenqiu Liu, Guy E Groblewski, Anna S Gukovskaya, Fred S Gorelick, Stephen J Pandol
Knowledge of the molecular mechanisms of acute pancreatitis is largely based on studies using rodents. To assess similar mechanisms in humans, we performed ex vivo pancreatitis studies in human acini isolated from cadaveric pancreata from organ donors. Since data on these human acinar preparations are sparse, we assessed their functional integrity, and cellular and organellar morphology using light, fluorescence and electron microscopy; and their proteome by liquid chromatography-tandem mass spectrometry (LC-MS/MS)...
September 18, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28935211/sustained-molecular-pathology-across-episodes-and-remission-in-major-depressive-disorder
#4
Enzo Scifo, Mohan Pabba, Fenika Kapadia, Tianzhou Ma, David A Lewis, George C Tseng, Etienne Sibille
BACKGROUND: Major depressive disorder (MDD) is a debilitating mental illness and a major cause of lost productivity worldwide. MDD patients often suffer from life-long recurring episodes of increasing severity, reduced therapeutic response, and shorter remission periods, suggesting the presence of a persistent and potentially progressive pathology. METHODS: Subgenual anterior cingulate cortex postmortem samples from four MDD cohorts (single episode, n = 20; single episode in remission, n = 15; recurrent episode, n = 20; and recurrent episode in remission, n = 15), and one control cohort (n = 20) were analyzed by mass spectrometry-based proteomics (n = 3630 proteins) combined with statistical analyses...
August 18, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/28932435/crystal-structures-of-4-meth-oxy-benzoic-acid-1-3-bis-pyridin-4-yl-propane-2-1-and-biphenyl-4-4-di-carb-oxy-lic-acid-4-meth-oxy-pyridine-1-2
#5
Kazuma Gotoh, Hiroyuki Ishida
The crystal structures of two hydrogen-bonded compounds, namely 4-meth-oxy-benzoic acid-1,3-bis-(pyridin-4-yl)propane (2/1), C13H14.59N2·C8H7.67O3·C8H7.74O3, (I), and biphenyl-4,4'-di-carb-oxy-lic acid-4-meth-oxy-pyridine (1/2), C14H9.43O4·C6H7.32NO·C6H7.25NO, (II), have been determined at 93 K. In (I), the asymmetric unit consists of two crystallographically independent 4-meth-oxy-benzoic acid mol-ecules and one 1,3-bis-(pyridin-4-yl)propane mol-ecule. The asymmetric unit of (II) comprises one biphenyl-4,4'-di-carb-oxy-lic acid mol-ecule and two independent 4-meth-oxy-pyridine mol-ecules...
July 1, 2017: Acta Crystallographica. Section E, Crystallographic Communications
https://www.readbyqxmd.com/read/28927883/retinol-saturase-modulates-lipid-metabolism-and-the-production-of-reactive-oxygen-species
#6
Xiao-Yan Pang, Suya Wang, Michael J Jurczak, Gerald I Shulman, Alexander R Moise
Retinol saturase (RetSat) catalyzes the saturation of double bonds of all-trans-retinol leading to the production of dihydroretinoid metabolites. Beside its role in retinoid metabolism, there is evidence that RetSat modulates the cellular response to oxidative stress and plays critical roles in adipogenesis and the accumulation of lipids. Here, we explore the relationship between RetSat, lipid metabolism and oxidative stress using in vitro and in vivo models with altered expression of RetSat. Our results reveal that RetSat is a potent modulator of the cellular response to oxidative stress and the generation of reactive oxygen species (ROS)...
September 18, 2017: Archives of Biochemistry and Biophysics
https://www.readbyqxmd.com/read/28927768/synthesis-and-biological-evaluation-of-peptide-derived-tslp-inhibitors
#7
Seonghu Park, Yeeun Park, Sang-Hyun Son, Kiho Lee, Yong Woo Jung, Ki Yong Lee, Young Ho Jeon, Youngjoo Byun
Thymic stromal lymphopoietin (TSLP) is a type II cytokine which is associated with most inflammatory allergic disorders in humans. It is produced mainly by epithelial cells with important role in the development of chronic inflammatory diseases by activating T-helper cell type-2 (TH2) pathways. In this study, a total of 16 peptides were prepared by solid phase peptide synthesis based on amino acid sequences of the interface between TSLP and TSLP receptor. Their TSLP inhibition activities were determined by ELISA assay...
September 7, 2017: Bioorganic & Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/28927346/deep-venous-thrombosis-prophylaxis-in-anterior-cruciate-ligament-reconstructive-surgery-what-is-the-current-state-of-practice
#8
Robert A Keller, Vasilios Moutzouros, Joshua S Dines, Charles A Bush-Joseph, Orr Limpisvasti
BACKGROUND: Venous thromboembolism (VTE) is a significant perioperative risk with many common orthopaedic procedures. Currently, there is no standardized recommendation for the use of VTE prophylaxis during anterior cruciate ligament (ACL) reconstruction. This study sought to evaluate the current prophylactic practices of fellowship-trained sports medicine orthopaedic surgeons in the United States. HYPOTHESIS: Very few surgeons use perioperative VTE prophylaxis for ACL reconstructive surgery...
September 1, 2017: Sports Health
https://www.readbyqxmd.com/read/28924523/the-interplay-of-genetics-and-environmental-factors-in-the-development-of-obesity
#9
REVIEW
Abu Baker Sheikh, Adeel Nasrullah, Shujaul Haq, Aisha Akhtar, Haider Ghazanfar, Amara Nasir, Rao M Afzal, Marvi M Bukhari, Ahtsham Yousaf Chaudhary, Syed W Naqvi
Obesity is a major health issue in the developed nations, and it has been increasingly clear that both genetics and environment play an important role in determining if an individual will be obese or not. We reviewed the latest researches which were carried out to identify the obesity susceptible genes and to identify the metabolic pathways having a central role in energy balance. Obesity is a heritable disorder, and some of the many obesity susceptible genes are fat mass and obesity (FTO), leptin, and Melanocortin-4 receptor (MC4R)...
July 6, 2017: Curēus
https://www.readbyqxmd.com/read/28924037/intrinsically-disordered-sequences-enable-modulation-of-protein-phase-separation-through-distributed-tyrosine-motifs
#10
Yuan Lin, Simon L Currie, Michael Keith Rosen
Liquid-liquid phase separation (LLPS) is thought to contribute to establishment of many biomolecular condensates, eukaryotic cell structures that concentrate diverse macromolecules but lack a bounding membrane. RNA granules control RNA metabolism and comprise a large class of condensates that are enriched in RNA-binding proteins and RNA molecules. Many RNA granule proteins are composed of both modular domains and intrinsically disordered regions (IDRs) having low amino acid sequence complexity. Phase separation of these molecules likely plays an important role in the generation and stability of RNA granules...
September 18, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28924012/inhibition-of-il-1%C3%AE-signaling-normalizes-nmda-dependent-neurotransmission-and-reduces-seizure-susceptibility-in-a-mouse-model-of-creutzfeldt-jakob-disease
#11
Ilaria Bertani, Valentina Iori, Massimo Trusel, Mattia Maroso, Claudia Foray, Susanna Mantovani, Raffaella Tonini, Annamaria Vezzani, Roberto Chiesa
Creutzfeldt-Jakob disease (CJD) is a neurodegenerative disorder caused by prion protein (PrP) misfolding, clinically recognized by cognitive and motor deficits, electroencephalographic (EEG) abnormalities and seizures. Its neurophysiological bases are not known. To assess the potential involvement of N-methyl-D-aspartate receptor (NMDAR) dysfunction, we analyzed NMDA-dependent synaptic plasticity in hippocampal slices from Tg(CJD) mice, which model a genetic form of CJD. Because PrP depletion may result in functional upregulation of NMDARs, we also analyzed PrP knockout (KO) mice...
September 18, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28919002/x-linked-adrenoleukodystrophy-in-a-chimpanzee-due-to-an-abcd1-mutation-reported-in-multiple-unrelated-humans
#12
Julian Curiel, Steven Jeffrey Steinberg, Sarah Bright, Ann Snowden, Ann B Moser, Florian Eichler, Holly A Dubbs, Joseph G Hacia, John J Ely, Jocelyn Bezner, Alisa Gean, Adeline Vanderver
BACKGROUND: X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder leading to the accumulation of very long chain fatty acids (VLCFA) due to a mutation in the ABCD1 gene. ABCD1 mutations lead to a variety of phenotypes, including cerebral X-ALD and adrenomyeloneuropathy (AMN) in affected males and 80% of carrier females. There is no definite genotype-phenotype correlation with intrafamilial variability. Cerebral X-ALD typically presents in childhood, but can also present in juveniles and adults...
September 1, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28918129/where-do-substrates-of-diacylglycerol-kinases-come-from-diacylglycerol-kinases-utilize-diacylglycerol-species-supplied-from-phosphatidylinositol-turnover-independent-pathways
#13
REVIEW
Fumio Sakane, Satoru Mizuno, Daisuke Takahashi, Hiromichi Sakai
Diacylglycerol kinase (DGK) phosphorylates diacylglycerol (DG) to produce phosphatidic acid (PA). Mammalian DGK comprises ten isozymes (α-κ) and regulates a wide variety of physiological and pathological events, such as cancer, type II diabetes, neuronal disorders and immune responses. DG and PA consist of various molecular species that have different acyl chains at the sn-1 and sn-2 positions, and consequently, mammalian cells contain at least 50 structurally distinct DG/PA species. Because DGK is one of the components of phosphatidylinositol (PI) turnover, the generally accepted dogma is that all DGK isozymes utilize 18:0/20:4-DG derived from PI turnover...
September 9, 2017: Advances in Biological Regulation
https://www.readbyqxmd.com/read/28915150/tics-and-tourette-a-clinical-pathophysiological-and-etiological-review
#14
Russell C Dale
PURPOSE OF REVIEW: Describe developments in the etiological understanding of Tourette syndrome. RECENT FINDINGS: Tourette syndrome is a complex heterogenous clinical syndrome, which is not a unitary entity. Pathophysiological models describe gamma-aminobutyric acid-ergic-associated disinhibition of cortico-basal ganglia motor, sensory and limbic loops. MRI studies support basal ganglia volume loss, with additional white matter and cerebellar changes. Tourette syndrome cause likely involves multiple vulnerability genes and environmental factors...
September 14, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28912717/global-metabolomics-reveals-the-metabolic-dysfunction-in-ox-ldl-induced-macrophage-derived-foam-cells
#15
Wenjuan Xu, Ziyi Wei, Jiaojiao Dong, Feipeng Duan, Kuikui Chen, Chang Chen, Jie Liu, Xiaowei Yang, Lianming Chen, Hongbin Xiao, An Liu
Atherosclerosis (AS) is a chronic disorder of large arteries that is a major risk factors of high morbidity and mortality. Oxidative modification LDL is one of the important contributors to atherogenesis. Macrophages take up ox-LDL and convert into foam cells, which is the hallmark of AS. To advance the understanding of the metabolic perturbation involved in ox-LDL induced macrophage-derived foam cells and discover the potential biomarkers of early AS, a global metabolomics approach was applied based on UHPLC-QTOF/MS...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28905951/order-disorder-phase-transition-in-an-anhydrous-pyrazole-based-proton-conductor-the-enhancement-of-electrical-transport-properties
#16
M Widelicka, K Pogorzelec-Glaser, A Pietraszko, P Ławniczak, R Pankiewicz, A Łapiński
The crystal structure of 1H-pyrazol-2-ium hydrogen oxalate has been studied at 100 K. It consists of two-dimensional layers built with one-dimensional chains that contain pyrazolium and oxalate acids bonded by N-HO and O-HO hydrogen bonds. According to the X-ray data and the Quantum Theory of Atoms in Molecules, it was shown that weak and moderate hydrogen bonds are present in the crystal at room temperature. The thermal stability was studied with the DSC, TGA, and DTG methods: three endothermic peaks are observed at 384, 420, and 469 K...
September 14, 2017: Physical Chemistry Chemical Physics: PCCP
https://www.readbyqxmd.com/read/28905885/long-term-correction-of-hemophilia-a-mice-following-lentiviral-mediated-delivery-of-an-optimized-canine-factor-viii-gene
#17
J M Staber, M J Pollpeter, C-G Anderson, M Burrascano, A L Cooney, P L Sinn, D T Rutkowski, W C Raschke, P B McCray
Current therapies for hemophilia A include frequent prophylactic or on-demand intravenous factor treatments which are costly, inconvenient and may lead to inhibitor formation. Viral vector delivery of factor VIII (FVIII) cDNA has the potential to alleviate the debilitating clotting defects. Lentiviral-based vectors delivered to murine models of hemophilia A mediate phenotypic correction. However, a limitation of lentiviral-mediated FVIII delivery is inefficient transduction of target cells. Here, we engineer a feline immunodeficiency virus (FIV) -based lentiviral vector pseudotyped with the baculovirus GP64 envelope glycoprotein to mediate efficient gene transfer to mouse hepatocytes...
September 14, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28904977/misuse-of-topical-corticosteroids-for-cosmetic-purpose-in-antananarivo-madagascar
#18
F A Sendrasoa, I M Ranaivo, M Andrianarison, O Raharolahy, N H Razanakoto, L S Ramarozatovo, F Rapelanoro Rabenja
This cross-sectional study was conducted in Antananarivo, Madagascar, from June to September 2012. We aim to evaluate the misuse of TC on the face for cosmetic purpose and the adverse effects due to its application. A questionnaire-based analysis was done among females who use topical corticosteroids on the face for cosmetic purpose. Of the 770 women questioned, 384 (49,8%) used topical corticosteroids for cosmetic purpose whose mean age was 38 years (range 16-73 years). Two hundred and sixty-one females (68%) used TC combined with handcrafted cosmetics, and 123 (32%) used TC alone...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28904678/-epidemiological-profile-of-hemoglobinopathies-a-cross-sectional-and-descriptive-index-case-study
#19
Fatima Dahmani, Souad Benkirane, Jaafar Kouzih, Aziz Woumki, Hassan Mamad, Azlarab Masrar
Hemoglobinopathies are congenital disorders resultimg from hemoglobin abnormalities. Major forms are often severe, their management is difficult and associated with a great psychosocial impact on patients and their families. They are classified as rare diseases and are still insufficiently known by health professionals. This lack of knowledge is at the origin of diagnostic errors, delay in their management and therefore high morbidity and mortality rate for these patients. In 2008, the World Health Organization (WHO) has published data on hemoglobinopathies epidemiology: more than 330...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28904440/primary-hyperoxaluria-type-1-with-homozygosity-for-a-double-mutated-agxt-allele-in-a-2-year-old-child
#20
S Krishnamurthy, G B Kartha, V S Venkateswaran, M Prasannakumar, S Mahadevan, M Gowda, A Pelle, D Giachino
Primary hyperoxaluria (PH) Type 1 is a rare, genetic disorder caused by deficiency of the liver enzyme alanine-glyoxylate aminotransferase, which is encoded by AGXT gene. We report a 2-year-old South Indian Tamil child with nephrocalcinosis due to PH Type 1, in whom a homozygous genotype for two missense mutations in the AGXT gene was found: first, a C to G transversion (c. 32C>G) in exon 1 resulting in the amino acid substitution p.Pro11Arg; second, a T to A transversion (c. 167T>A) in exon 2 resulting in p...
September 2017: Indian Journal of Nephrology
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