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Acid-base disorders

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https://www.readbyqxmd.com/read/27913098/succinyl-coa-synthetase-sucla2-deficiency-in-two-siblings-with-impaired-activity-of-other-mitochondrial-oxidative-enzymes-in-skeletal-muscle-without-mitochondrial-dna-depletion
#1
Xiaoping Huang, Jirair K Bedoyan, Didem Demirbas, David J Harris, Alexander Miron, Simone Edelheit, George Grahame, Suzanne D DeBrosse, Lee-Jun Wong, Charles L Hoppel, Douglas S Kerr, Irina Anselm, Gerard T Berry
Mutations in SUCLA2 result in succinyl-CoA ligase (ATP-forming) or succinyl-CoA synthetase (ADP-forming) (A-SCS) deficiency, a mitochondrial tricarboxylic acid cycle disorder. The phenotype associated with this gene defect is largely encephalomyopathy. We describe two siblings compound heterozygous for SUCLA2 mutations, c.985A>G (p.M329V) and c.920C>T (p.A307V), with parents confirmed as carriers of each mutation. We developed a new LC-MS/MS based enzyme assay to demonstrate the decreased SCS activity in the siblings with this unique genotype...
November 12, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27912886/medicinal-plants-and-natural-molecules-with-in-vitro-and-in-vivo-activity-against-rotavirus-a-systematic-review
#2
REVIEW
Gopalsamy Rajiv Gandhi, Paula Gurgel Barreto, Bruno Dos Santos Lima, Jullyana de Souza Siqueira Quintans, Adriano Antunes de Souza Araújo, Narendra Narain, Lucindo Jose Quintans-Júnior, Ricardo Queiroz Gurgel
BACKGROUND: Rotaviruses can cause life-threatening health disorders, such as severe dehydrating gastroenteritis and diarrhea in children. Vaccination is the main preventive strategy to reduce rotavirus diarrhea and the severity of episodes, but vaccines are not fully effective and new episodes may occur, even in vaccinated children. The WHO recommends oral rehydration therapy and zinc supplementation for rotavirus-induced diarrhea management. There is little preclinical evidence to support the use of phytotherapeutics in the management of rotaviral infections...
December 15, 2016: Phytomedicine: International Journal of Phytotherapy and Phytopharmacology
https://www.readbyqxmd.com/read/27911380/method-for-identifying-small-molecule-inhibitors-of-the-protein-protein-interaction-between-hcn1-and-trip8b
#3
Ye Han, Kyle A Lyman, Matt Clutter, Gary E Schiltz, Quratul-Ain Ismail, Xiangying Cheng, Chi-Hao Luan, Dane M Chetkovich
Hyperpolarization-activated cyclic nucleotide-gated (HCN) channels are expressed ubiquitously throughout the brain, where they function to regulate the excitability of neurons. The subcellular distribution of these channels in pyramidal neurons of hippocampal area CA1 is regulated by tetratricopeptide repeat-containing Rab8b interacting protein (TRIP8b), an auxiliary subunit. Genetic knockout of HCN pore forming subunits or TRIP8b, both lead to an increase in antidepressant-like behavior, suggesting that limiting the function of HCN channels may be useful as a treatment for Major Depressive Disorder (MDD)...
November 11, 2016: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/27910928/high-throughput-chinmedomics-based-prediction-of-effective-components-and-targets-from-herbal-medicine-as1350
#4
Qi Liu, Aihua Zhang, Liang Wang, Guangli Yan, Hongwei Zhao, Hui Sun, Shiyu Zou, Jinwei Han, Chung Wah Ma, Ling Kong, Xiaohang Zhou, Yang Nan, Xijun Wang
This work was designed to explore the effective components and targets of herbal medicine AS1350 and its effect on "Kidney-Yang Deficiency Syndrome" (KYDS) based on a chinmedomics strategy which is capable of directly discovering and predicting the effective components, and potential targets, of herbal medicine. Serum samples were analysed by UPLC-MS combined with pattern recognition analysis to identify the biomarkers related to the therapeutic effects. Interestingly, the effectiveness of AS1350 against KYDS was proved by the chinmedomics method and regulated the biomarkers and targeting of metabolic disorders...
December 2, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27908782/adaptive-responses-of-neuronal-mitochondria-to-bioenergetic-challenges-roles-in-neuroplasticity-and-disease-resistance
#5
REVIEW
Sophia M Raefsky, Mark P Mattson
An important concept in neurobiology is "neurons that fire together, wire together" which means that the formation and maintenance of synapses is promoted by activation of those synapses. Very similar to the effects of the stress of exercise on muscle cells, emerging findings suggest that neurons respond to activity by activating signaling pathways (e.g., Ca(2+), CREB, PGC-1α, NF-κB) that stimulate mitochondrial biogenesis and cellular stress resistance. These pathways are also activated by aerobic exercise and food deprivation, two bioenergetic challenges of fundamental importance in the evolution of the brains of all mammals, including humans...
November 28, 2016: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/27908485/managing-fluid-and-electrolyte-disorders-in-kidney-disease
#6
REVIEW
Cathy Langston
Because of the role of the kidneys in maintaining homeostasis in the body, kidney disease leads to derangements of fluid, electrolyte, and acid-base balance. The most effective therapy of a uremic crisis is careful management of fluid balance, which involves thoughtful assessment of hydration, a fluid treatment plan personalized for the specific patient, and repeated and frequent reassessment of fluid and electrolyte balance. Disorders of sodium, chloride, potassium, calcium, and phosphorus are commonly encountered in kidney disease and some may be life-threatening...
November 28, 2016: Veterinary Clinics of North America. Small Animal Practice
https://www.readbyqxmd.com/read/27903293/personalized-medicine-approach-confirms-a-milder-case-of-abat-deficiency
#7
A Besse, A K Petersen, J V Hunter, V Appadurai, S R Lalani, P E Bonnen
ABAT deficiency (OMIM 613163) is a rare inborn error of metabolism caused by recessive variants in the gene 4-aminobutyric acid transaminase (ABAT), which is responsible for both the catalysis of GABA and maintenance of nucleoside pools in the mitochondria. To date, only a few patients have been reported worldwide. Their clinical presentation has been remarkably consistent with primary features of severe psychomotor retardation, encephalopathy, hypotonia, and infantile-onset refractory epilepsy. We report a new case of ABAT deficiency that marks an important departure from previous clinical findings...
December 1, 2016: Molecular Brain
https://www.readbyqxmd.com/read/27899485/circulating-microrna-122-is-associated-with-the-risk-of-new-onset-metabolic-syndrome-and-type-2-diabetes
#8
Peter Willeit, Philipp Skroblin, Alexander R Moschen, Xiaoke Yin, Dorothee Kaudewitz, Anna Zampetaki, Temo Barwari, Meredith Whitehead, Cristina M Ramírez, Leigh Goedeke, Noemi Rotllan, Enzo Bonora, Alun D Hughes, Peter Santer, Carlos Fernández-Hernando, Herbert Tilg, Johann Willeit, Stefan Kiechl, Manuel Mayr
MicroRNA-122 (miR-122) is abundant in the liver and involved in lipid homeostasis, but its relevance to the long-term risk of developing metabolic disorders is unknown. We therefore measured circulating miR-122 in the prospective population-based Bruneck Study (n=810; survey year: 1995). Circulating miR-122 was associated with prevalent insulin resistance, obesity, metabolic syndrome, type-2 diabetes, and an adverse lipid profile. Among 92 plasma proteins and 135 lipid subspecies quantified with mass spectrometry, it correlated inversely with zinc-alpha-2-glycoprotein and positively with afamin, complement-factor H, VLDL-associated apolipoproteins, and lipid subspecies containing monounsaturated and saturated fatty acids...
November 29, 2016: Diabetes
https://www.readbyqxmd.com/read/27899449/deficiency-of-a-retinal-dystrophy-protein-acbd5-impairs-peroxisomal-%C3%AE-oxidation-of-very-long-chain-fatty-acids
#9
Yuichi Yagita, Kyoko Shinohara, Yuichi Abe, Keiko Nakagawa, Mohammed Al-Owain, Fowzan S Alkuraya, Yukio Fujiki
Acyl-CoA binding domain containing 5 (ACBD5) is a peroxisomal protein that carries an acyl-CoA binding domain (ACBD) at its N-terminal region. The recent identification of a mutation in the ACBD5 gene in patients with a syndromic form of retinal dystrophy highlights the physiological importance of ACBD5 in humans. However, the underlying pathogenic mechanisms and the precise function of ACBD5 remain unclear. We herein report that ACBD5 is a peroxisomal tail-anchored membrane protein exposing its ACBD to the cytosol...
November 29, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27897220/impact-of-the-microbial-derived-short-chain-fatty-acid-propionate-on-host-susceptibility-to-bacterial-and-fungal-infections-in-vivo
#10
Eleonora Ciarlo, Tytti Heinonen, Jacobus Herderschee, Craig Fenwick, Matteo Mombelli, Didier Le Roy, Thierry Roger
Short chain fatty acids (SCFAs) produced by intestinal microbes mediate anti-inflammatory effects, but whether they impact on antimicrobial host defenses remains largely unknown. This is of particular concern in light of the attractiveness of developing SCFA-mediated therapies and considering that SCFAs work as inhibitors of histone deacetylases which are known to interfere with host defenses. Here we show that propionate, one of the main SCFAs, dampens the response of innate immune cells to microbial stimulation, inhibiting cytokine and NO production by mouse or human monocytes/macrophages, splenocytes, whole blood and, less efficiently, dendritic cells...
November 29, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27894793/a-quick-reference-on-anion-gap-and-strong-ion-gap
#11
REVIEW
Carlos Torrente Artero
Metabolic acid-base disorders are common in emergency and critically ill patients. Clinicians may have difficulty recognizing their presence when multiple acid-base derangements are present in a single patient simultaneously. The anion gap and the strong ion gap concepts are useful calculations to identify the components of complex metabolic acid-base associated to the presence of unmeasured anions. This article presents their definition, normal values, indications, limitations, and guidelines for interpretation of changes in the clinical setting...
November 25, 2016: Veterinary Clinics of North America. Small Animal Practice
https://www.readbyqxmd.com/read/27893018/effect-of-%C3%AF-3-polyunsaturated-fatty-acids-in-young-people-at-ultrahigh-risk-for-psychotic-disorders-the-neurapro-randomized-clinical-trial
#12
Patrick D McGorry, Barnaby Nelson, Connie Markulev, Hok Pan Yuen, Miriam R Schäfer, Nilufar Mossaheb, Monika Schlögelhofer, Stephan Smesny, Ian B Hickie, Gregor Emanuel Berger, Eric Y H Chen, Lieuwe de Haan, Dorien H Nieman, Merete Nordentoft, Anita Riecher-Rössler, Swapna Verma, Andrew Thompson, Alison Ruth Yung, G Paul Amminger
Importance: A promising treatment to prevent onset and improve outcomes in patients at ultrahigh risk for psychosis is dietary supplementation with long-chain ω-3 polyunsaturated fatty acids (PUFAs). Objective: To determine whether treatment with ω-3 PUFAs in combination with a high-quality psychosocial intervention (cognitive behavioral case management [CBCM]) is more effective than placebo plus CBCM. Design, Setting, and Participants: NEURAPRO, a double-blind, placebo-controlled, randomized clinical trial, was conducted from March 1, 2010, to September 30, 2014, in 10 specialized early psychosis treatment services in Australia, Asia, and Europe...
November 23, 2016: JAMA Psychiatry
https://www.readbyqxmd.com/read/27892944/veno-occlusive-disease-sinusoidal-obstruction-syndrome-after-haematopoietic-stem-cell-transplantation-middle-east-north-africa-regional-consensus-on-prevention-diagnosis-and-management
#13
A H Al Jefri, H Abujazar, A Al-Ahmari, A Al Rawas, Z Al Zahrani, A Alhejazi, M A Bekadja, A Ibrahim, M Lahoucine, S Ousia, A Bazarbachi
Veno-occlusive disease/sinusoidal obstruction syndrome (VOD/SOS) of the liver is a serious, early complication of haematopoietic stem cell transplantation (HSCT), severe and very severe forms of which are associated with a high mortality rate. A wide variety of patient, disease and treatment-related risk factors for VOD/SOS have been identified. Several bodies have published recommendations for the diagnosis, prevention and management of VOD/SOS following HSCT. A group of regional experts have developed a consensus statement on the diagnosis, prevention and management of VOD/SOS in the Middle East and North Africa region to help in the management of HSCT patients in the region...
November 28, 2016: Bone Marrow Transplantation
https://www.readbyqxmd.com/read/27891079/contribution-of-tms-and-rtms-in-the-understanding-of-the-pathophysiology-and-in-the-treatment-of-dystonia
#14
REVIEW
Pierre Lozeron, Aurélia Poujois, Alexandra Richard, Sana Masmoudi, Elodie Meppiel, France Woimant, Nathalie Kubis
Dystonias represent a heterogeneous group of movement disorders responsible for sustained muscle contraction, abnormal postures, and muscle twists. It can affect focal or segmental body parts or be generalized. Primary dystonia is the most common form of dystonia but it can also be secondary to metabolic or structural dysfunction, the consequence of a drug's side-effect or of genetic origin. The pathophysiology is still not elucidated. Based on lesion studies, dystonia has been regarded as a pure motor dysfunction of the basal ganglia loop...
2016: Frontiers in Neural Circuits
https://www.readbyqxmd.com/read/27890436/respiratory-acid-base-disorders-in-the-critical-care-unit
#15
REVIEW
Kate Hopper
The incidence of respiratory acid-base abnormalities in the critical care unit (CCU) is unknown, although respiratory alkalosis is suspected to be common in this population. Abnormal carbon dioxide tension can have many physiologic effects, and changes in Pco2 may have a significant impact on outcome. Monitoring Pco2 in CCU patients is an important aspect of critical patient assessment, and identification of respiratory acid-base abnormalities can be valuable as a diagnostic tool. Treatment of respiratory acid-base disorders is largely focused on resolution of the primary disease, although mechanical ventilation may be indicated in cases with severe respiratory acidosis...
November 24, 2016: Veterinary Clinics of North America. Small Animal Practice
https://www.readbyqxmd.com/read/27889747/alisol-a-24-acetate-prevents-hepatic-steatosis-and-metabolic-disorders-in-hepg2-cells
#16
Lu Zeng, WaiJiao Tang, JinJin Yin, LiJuan Feng, Yabing Li, Xiaorui Yao, BenJie Zhou
BACKGROUND: Non-alcoholic fatty liver disease (NAFLD) is closely associated with metabolic disorders including hepatic lipid accumulation and inflammation. Alisol A 24-acetate, a triterpene from Alismatis rhizome, has multiple biologic activities such as hypolipidemic, anti-inflammatory and anti-diabetic. Thus we hypothesized that Alisol A 24 -acetate would have effect on NAFLD. The present study was conducted to investigate the therapeutic effects and potential mechanisms of Alisol A 24-acetate against hepatic steatosis in a free fatty acids (FFAs) induced NAFLD cell model...
November 25, 2016: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/27884962/triheptanoin-long-term-effects-in-the-very-long-chain-acyl-coa-dehydrogenase-vlcad-deficient-mouse
#17
Sara Tucci, Ulrich Floegel, Frauke Beermann, Sidney Behringer, Ute Spiekerkoetter
A rather new approach in the treatment of long-chain fatty acid oxidation disorders is represented by triheptanoin, a triglyceride with three medium-odd-chain heptanoic acid (C7) due to its anaplerotic potential. We here investigate the effects of a one-year triheptanoin-based diet on the clinical phenotype of very long-chain-acyl-CoA-dehydrogenase-deficient (VLCAD-/-) mice. The cardiac function was assessed in VLCAD-/- mice by in vivo MRI. Metabolic adaptations were identified by the expression of genes regulating energy metabolism and anaplerotic processes using real-time-PCR and the results were correlated with the measurement of the glycolytic enzymes pyruvate dehydrogenase (PDH) and pyruvate kinase (PK)...
November 24, 2016: Journal of Lipid Research
https://www.readbyqxmd.com/read/27880890/potential-antidepressant-and-resilience-mechanism-revealed-by-metabolomic-study-on-peripheral-blood-mononuclear-cells-of-stress-resilient-rats
#18
Juan Li, Shu-Xiao Zhang, Wei Wang, Ke Cheng, Hua Guo, Cheng-Long Rao, De-Yu Yang, Yong He, De-Zhi Zou, Yu Han, Li-Bo Zhao, Peng-Fei Li, Peng Xie
Resilience is an active coping response to stress, which plays a very important role in major depressive disorder study. The molecular mechanisms underlying such resilience are poorly understood. Peripheral blood mononuclear cells (PBMCs) were promising objects in unveiling the underlying pathogenesis of resilience. Hereby we carried out successive study on PBMCs metabolomics in resilient rats of chronic unpredictable mild stress (CUMS) model. A gas chromatography-mass spectrometry (GC-MS) metabolomic approach coupled with principal component analysis (PCA) and orthogonal partial least-squares discriminant analysis (OPLS-DA) was used to detect differential metabolites in PBMCs of resilient rats...
November 20, 2016: Behavioural Brain Research
https://www.readbyqxmd.com/read/27876552/long-term-altered-immune-responses-following-fetal-priming-in-a-non-human-primate-model-of-maternal-immune-activation
#19
Destanie R Rose, Milo Careaga, Judy Van de Water, Kim McAllister, Melissa D Bauman, Paul Ashwood
Infection during pregnancy can lead to activation of the maternal immune system and has been associated with an increased risk of having an offspring later diagnosed with a neurodevelopmental disorders (NDD) such as autism spectrum disorder (ASD) or Schizophrenia (SZ). Most maternal immune activation (MIA) studies to date have been in rodents and usually involve the use of lipopolysaccharide (LPS) or polyinosinic:polycytidylic acid (poly I:C). However, since NDD are based on behavioral changes, a model of MIA in non-human primates could potentially provide data that helps illuminate complex behavioral and immune outputs in human NDD...
November 19, 2016: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/27876313/lysosomal-acid-lipase-deficiency-expanding-differential-diagnosis
#20
Vassili Valayannopoulos, Eugen Mengel, Anais Brassier, Gregory Grabowski
The differential diagnoses for metabolic liver diseases may be challenging in clinical settings, which represents a critical issue for disorders such as lysosomal acid lipase deficiency (LAL-D). LAL-D is caused by deficient activity of the LAL enzyme, resulting in the accumulation of cholesteryl esters and triglycerides throughout the body, predominately in the liver, spleen, gastrointestinal tract, and blood vessel walls. LAL-D is a progressive, multi-organ disease with early mortality and significant morbidity characterized by a combination of hepatic dysfunction and dyslipidemia...
November 10, 2016: Molecular Genetics and Metabolism
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