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https://www.readbyqxmd.com/read/29161413/nrf2-regulates-endothelial-glycolysis-and-proliferation-with-mir-93-and-mediates-the-effects-of-oxidized-phospholipids-on-endothelial-activation
#1
Suvi M Kuosmanen, Emilia Kansanen, Minna U Kaikkonen, Virve Sihvola, Kati Pulkkinen, Henna-Kaisa Jyrkkänen, Pauli Tuoresmäki, Juha Hartikainen, Mikko Hippeläinen, Hannu Kokki, Pasi Tavi, Sami Heikkinen, Anna-Liisa Levonen
Phospholipids, such as 1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphocholine (PAPC), are the major components of cell membranes. Their exposure to reactive oxygen species creates oxidized phospholipids, which predispose to the development of chronic inflammatory diseases and metabolic disorders through endothelial activation and dysfunction. Although the effects of oxidized PAPC (oxPAPC) on endothelial cells have been previously studied, the underlying molecular mechanisms evoking biological responses remain largely unknown...
November 17, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/29161082/gut-microbiome-and-obesity-how-to-prove-causality
#2
Philippe Gérard
In recent years, the gut microbiota (the microorganisms that live in our digestive tract) has become an area of great interest. Indeed, this intestinal microbial community performs essential functions in maintaining our health, and has been proven to influence host physiology and metabolism. Thereby, dysregulation of this gut microbiota may be implicated in the development of various diseases, including obesity. However, studies rarely assess causality, which requires the use of germ-free animals and microbiota transplant...
November 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/29161034/dynamic-glycosylation-governs-the-vertebrate-copii-protein-trafficking-pathway
#3
Nathan J Cox, Gokhan Unlu, Brittany J Bisnett, Thomas R Meister, Brett Condon, Peter M Luo, Tim J Smith, Michael Hanna, Abhishek Chhetri, Erik J Soderblom, Anjon Audhya, Ela W Knapik, Michael Boyce
The COPII coat complex, which mediates secretory cargo trafficking from the endoplasmic reticulum, is a key control point for subcellular protein targeting. Because misdirected proteins cannot function, protein sorting by COPII is critical for establishing and maintaining normal cell and tissue homeostasis. Indeed, mutations in COPII genes cause a range of human pathologies, including cranio-lenticulo-sutural dysplasia (CLSD), which is characterized by collagen trafficking defects, craniofacial abnormalities and skeletal dysmorphology...
November 21, 2017: Biochemistry
https://www.readbyqxmd.com/read/29160944/ketogenic-diet-suppresses-alcohol-withdrawal-syndrome-in-rats
#4
Ditte Dencker, Anna Molander, Morgane Thomsen, Chantal Schlumberger, Gitta Wortwein, Pia Weikop, Helene Benveniste, Nora D Volkow, Anders Fink-Jensen
BACKGROUND: Alcohol use disorder is under-diagnosed and under-treated, and up to 50% of alcohol abstinent patients diagnosed with alcohol dependence relapse within the first year of treatment. Current treatments for the maintenance of alcohol abstinence in patients with alcohol use disorder have limited efficacy, and there is an urgent need for novel treatment strategies. Decreased cerebral glucose metabolism and increased brain uptake of acetate was recently reported in heavy drinkers, relative to controls...
November 21, 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/29160817/impact-of-high-dose-multi-strain-probiotic-supplementation-on-neurocognitive-performance-and-central-nervous-system-immune-activation-of-hiv-1-infected-individuals
#5
Giancarlo Ceccarelli, Jason M Brenchley, Eugenio Nelson Cavallari, Giuseppe Corano Scheri, Mariangela Fratino, Claudia Pinacchio, Ivan Schietroma, Saeid Najafi Fard, Carolina Scagnolari, Ivano Mezzaroma, Vincenzo Vullo, Gabriella d'Ettorre
BACKGROUND: Gut microbiota has metabolic activity which influences mucosal homeostasis, local and systemic immune responses, and other anatomical systems (i.e., brain). The effects of dysbiosis are still poorly studied in Human Immunodeficiency Virus-1 (HIV-1) positive subjects and insufficient data are available on the impairment of the gut-brain axis, despite neurocognitive disorders being commonly diagnosed in these patients. This study evaluated the impact of a probiotic supplementation strategy on intrathecal immune activation and cognitive performance in combined antiretroviral therapy (cART) treated HIV-1 infected subjects...
November 21, 2017: Nutrients
https://www.readbyqxmd.com/read/29160608/apple-fruit-superficial-scald-resistance-mediated-by-ethylene-inhibition-is-associated-with-diverse-metabolic-processes
#6
Nicola Busatto, Brian Farneti, Mauro Commisso, Martino Bianconi, Barbara Iadarola, Elisa Zago, Benedetto Ruperti, Francesco Spinelli, Angelo Zanella, Riccardo Velasco, Alberto Ferrarini, Giulia Chitarrini, Urska Vrhovsek, Massimo Delledonne, Flavia Guzzo, Guglielmo Costa, Fabrizio Costa
Fruits stored at low temperature can exhibit different types of chilling injury. In apple, one of the most serious physiological disorders is superficial scald, which is characterized by discoloration and brown necrotic patches on the fruit exocarp. Although this phenomenon is widely ascribed to the oxidation of α-farnesene, its physiology is not yet fully understood. To elucidate the mechanism of superficial scald development and possible means of prevention, we performed an integrated metabolite screen, including an analysis of volatiles, phenols and lipids, together with a large-scale transcriptome study...
November 21, 2017: Plant Journal: for Cell and Molecular Biology
https://www.readbyqxmd.com/read/29160505/metabolic-disorders-and-cardiovascular-risk-in-people-living-with-hiv-aids-without-the-use-of-antiretroviral-therapy
#7
Mariana Amaral Raposo, Geyza Nogueira de Almeida Armiliato, Nathalia Sernizon Guimarães, Camila Abrahão Caram, Raíssa Domingues de Simoni Silveira, Unaí Tupinambás
INTRODUCTION: Metabolic disorders in people living with HIV/AIDS (PLH) have been described even before the introduction of antiretroviral (ARV) drugs in the treatment of HIV infection and are risk factors for cardiovascular diseases. Based on this, the purpose of this study was to assess metabolic disorders and cardiovascular risk in PLH before the initiation of antiretroviral treatment (ART). METHODS: This was a cross-sectional descriptive study of 87 PLH without the use of ART, which was carried out between January and September 2012 at a specialized infectious diseases center in Minas Gerais, Brazil...
September 2017: Revista da Sociedade Brasileira de Medicina Tropical
https://www.readbyqxmd.com/read/29160443/body-fat-redistribution-and-changes-in-lipid-and-glucose-metabolism-in-people-living-with-hiv-aids
#8
Rebeca Antunes Beraldo, André Pereira Dos Santos, Mariana Palma Guimarães, Helena Siqueira Vassimon, Francisco José Albuquerque de Paula, Dalmo Roberto Lopes Machado, Maria Cristina Foss-Freitas, Anderson Marliere Navarro
INTRODUCTION: The HIV lipodystrophy syndrome is characterized by changes in metabolism, and body composition that increase cardiovascular risk of people living with HIV/AIDS (PLWHA) using highly active antiretroviral therapy (HAART). OBJECTIVE: To assess the prevalence of lipodystrophy and changes in lipid and glucose metabolism in PLWHA in use of HAART. METHODS: For the anthropometric evaluation we measured weight, height and abdominal circumference (AC)...
July 2017: Revista Brasileira de Epidemiologia, Brazilian Journal of Epidemiology
https://www.readbyqxmd.com/read/29160415/interregional-correlations-of-glucose-metabolism-between-the-basal-ganglia-and-different-cortical-areas-an-ultra-high-resolution-pet-mri-fusion-study-using-18f-fdg
#9
J H Kim, Y D Son, J M Kim, H K Kim, Y B Kim, C Lee, C H Oh
Basal ganglia have complex functional connections with the cerebral cortex and are involved in motor control, executive functions of the forebrain, such as the planning of movement, and cognitive behaviors based on their connections. The aim of this study was to provide detailed functional correlation patterns between the basal ganglia and cerebral cortex by conducting an interregional correlation analysis of the 18F-fluorodeoxyglucose (18F-FDG) positron emission tomography (PET) data based on precise structural information...
November 13, 2017: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
https://www.readbyqxmd.com/read/29160035/mosaic-uniparental-disomy-results-in-gm1-gangliosidosis-with-normal-enzyme-assay
#10
Kenneth A Myers, Mark F Bennett, Chung W Chow, Susan M Carden, Simone A Mandelstam, Melanie Bahlo, Ingrid E Scheffer
Inherited metabolic disorders are traditionally diagnosed using broad and expensive panels of screening tests, often including invasive skin and muscle biopsy. Proponents of next-generation genetic sequencing have argued that replacing these screening panels with whole exome sequencing (WES) would save money. Here, we present a complex patient in whom WES allowed diagnosis of GM1 gangliosidosis, caused by homozygous GLB1 mutations, resulting in β-galactosidase deficiency. A 10-year-old girl had progressive neurologic deterioration, macular cherry-red spot, and cornea verticillata...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29160033/discordant-fetal-phenotype-of-hypophosphatasia-in-two-siblings
#11
Satoru Ikenoue, Kei Miyakoshi, Tomohiro Ishii, Yu Sato, Toshimitsu Otani, Yohei Akiba, Yoshifumi Kasuga, Daigo Ochiai, Tadashi Matsumoto, Yosuke Ichihashi, Yohei Matsuzaki, Kanako Tachikawa, Toshimi Michigami, Gen Nishimura, Kazushige Ikeda, Tomonobu Hasegawa, Mamoru Tanaka
Hypophosphatasia (HPP) is an autosomal recessive metabolic disorder with impaired bone mineralization due to mutations in the ALPL gene. The genotype-phenotype correlation of this disorder has been widely described. Here, we present two affected siblings, whose fetal phenotypes were discordant. A 31-year-old Japanese woman, G0P0, was referred to our institution because of fetal micromelia. After obstetric counseling, the pregnancy was terminated at 21 weeks' gestation. Post-mortem radiographs demonstrated severely defective mineralization of the skeleton...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29159549/-diagnostics-of-wilson-s-disease
#12
REVIEW
W Hermann, D Huster
Wilson's disease is a rare genetic but treatable metabolic disorder which has a favorable prognosis when diagnosed early and treated adequately. Therefore, knowledge of this rare clinical condition and a reliable diagnosis are indispensable. The diagnostic work-up is initiated in cases of unexplained acute or chronic liver disease and/or an extrapyramidal motor disturbance occurring mostly between the 5th and 45th years of life. Manifestations with initial symptoms have occasionally been observed at an age younger than 1 year and later than 70 years...
November 20, 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/29159461/severe-hyperammonemic-encephalopathy-requiring-dialysis-aggravated-by-prolonged-fasting-and-intermittent-high-fat-load-in-a-ramadan-fasting-month-in-a-patient-with-cptii-homozygous-mutation
#13
P Phowthongkum, C Ittiwut, V Shotelersuk
BACKGROUND: Carnitine palmitoyltransferase II (CPTII) deficiency is a mitochondrial fatty acid oxidation disorder that can present antenatally as congenital brain malformations, or postnatally with lethal neonatal, severe infantile, or the most common adult myopathic forms. No case of severe hyperammonemia without liver dysfunction has been reported. CASE PRESENTATION: We described a 23-year-old man who presented to the emergency department with seizures and was found to have markedly elevation of serum ammonia...
November 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29159174/prevalence-and-association-of-obesity-with-self-reported-comorbidity-a-cross-sectional-study-of-1321-adult-participants-in-lasbela-balochistan
#14
I Khan, Z Ul-Haq, A S Taj, A Z Iqbal, S Basharat, B H Shah
Association of fatness with chronic metabolic diseases is a well-established fact, and a high prevalence of risk factors for these disorders has increasingly been reported in the third world. In order to incorporate any preventive strategies for such risk factors into clinical practice, decision-makers require objective evidence about the associated burden of disease. A cross-sectional study of 1321 adults from one of the districts of Balochistan, among the most economically challenged areas of Pakistan, was carried out for the measures of fatness and self-reported comorbidities...
2017: BioMed Research International
https://www.readbyqxmd.com/read/29159075/enzyme-replacement-therapy-in-perinatal-hypophosphatasia-case-report-of-a-negative-outcome-and-lessons-for-clinical-practice
#15
Gregory Costain, Aideen M Moore, Lauren Munroe, Alison Williams, Randi Zlotnik Shaul, Cheryl Rockman-Greenberg, Martin Offringa, Peter Kannu
Enzyme replacement therapy (ERT) is a newly approved disease-modifying treatment for hypophosphatasia (HPP), a rare metabolic bone disorder. With an orphan drug and ultra-rare disease, sharing information about responders and non-responders is particularly important, as any one centre's familiarity with its use will be limited. Nearly all published data in infants and very young children with life-threatening HPP are from three small clinical trials that have reported generally positive outcomes. We describe in detail a patient with perinatal HPP for whom treatment with ERT was not successful...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29158881/serum-proteomic-profiling-of-obsessive-compulsive-disorder-washing-subtype-a-preliminary-study
#16
Mona Zamanian-Azodi, Mostafa Rezaei-Tavirani, Naser Nejadi, Afsaneh Arefi Oskouie, Faird Zayeri, Mostafa Hamdieh, Akram Safaei, Majid Rezaei-Tavirani, Alireza Ahmadzadeh, Alireza Amouzandeh-Nobaveh, Farshad Okhovatian
Introduction: Obsessive-Compulsive Disorder (OCD) is a disabling mental condition that its proteomic profiling is not yet investigated. Proteomics is a valuable tool to discover biomarker approaches. It can be helpful to detect protein expression changes in complex disorders such as OCD. Methods: Here, by the application of 2D gel electrophoresis (2DE), a pilot study of serum proteome profile of females with washing subtype of OCD was performed. Serum samples were obtained from females with washing subtype of OCD...
July 2017: Basic and Clinical Neuroscience
https://www.readbyqxmd.com/read/29158261/the-biotin-ligating-protein-bpl-1-is-critical-for-lipid-biosynthesis-and-polarization-of-the-caenorhabditis-elegans-embryo
#17
Jason S Watts, Diane G Morton, Kenneth J Kemphues, Jennifer L Watts
Biotin is an essential cofactor for multiple metabolic reactions catalyzed by carboxylases. Biotin is covalently linked to apoproteins by holocarboxylase synthetase (HCS). Accordingly, some mutations in HCS cause holocarboxylase deficiency, a rare metabolic disorder that can be life threatening if left untreated. However, the long-term effects of HCS deficiency are poorly understood. Here, we report our investigations of bpl-1, which encodes the C. elegans ortholog of HCS. We found that mutations in the biotin-binding region of bpl-1 are maternal-effect lethal, and cause defects in embryonic polarity establishment, meiosis, and the integrity of the eggshell permeability barrier...
November 20, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29157190/mucopolysaccharidosis-type-vi-in-a-great-dane-caused-by-a-nonsense-mutation-in-the-arsb-gene
#18
Ping Wang, Carol Margolis, Gloria Lin, Elizabeth L Buza, Scott Quick, Karthik Raj, Rachel Han, Urs Giger
Mucopolysaccharidoses are inherited metabolic disorders that result from a deficiency of lysosomal enzymes required for the catabolism of glycosaminoglycans. Lysosomal glycosaminoglycan accumulation results in cell and organ dysfunction. This study characterized the phenotype and genotype of mucopolysaccharidosis VI in a Great Dane puppy with clinical signs of stunted growth, facial dysmorphia, skeletal deformities, corneal opacities, and increased respiratory sounds. Clinical and pathologic evaluations, urine glycosaminoglycan analyses, lysosomal enzyme assays, and ARSB sequencing were performed...
January 1, 2017: Veterinary Pathology
https://www.readbyqxmd.com/read/29157127/modulation-of-the-gut-microbiota-by-metformin-improves-metabolic-profiles-in-aged-obese-mice
#19
Heetae Lee, Youngjoo Lee, Jiyeon Kim, Jinho An, Sungwon Lee, Hyunseok Kong, Youngcheon Song, Chong-Kil Lee, Kyungjae Kim
The gut microbiota is a contributing factor in obesity-related metabolic disorders. The effect of metformin on the gut microbiota has been reported; however, the relationship between the gut microbiota and the mechanism of action of metformin in elderly individuals is unclear. In this study, the effect of metformin on the gut microbiota was investigated in aged obese mice. The abundance of the genera Akkermansia, Bacteroides, Butyricimonas, and Parabacteroides was significantly increased by metformin in mice fed a high-fat diet...
November 20, 2017: Gut Microbes
https://www.readbyqxmd.com/read/29156684/a-prenatal-interruption-of-disc1-function-in-the-brain-exhibits-a-lasting-impact-on-adult-behaviors-brain-metabolism-and-interneuron-development
#20
Dazhi Deng, Chongdong Jian, Ling Lei, Yijing Zhou, Colleen McSweeney, Fengping Dong, Yilun Shen, Donghua Zou, Yonggang Wang, Yuan Wu, Limin Zhang, Yingwei Mao
Mental illnesses like schizophrenia (SCZ) and major depression disorder (MDD) are devastating brain disorders. The SCZ risk gene, disrupted in schizophrenia 1 (DISC1), has been associated with neuropsychiatric conditions. However, little is known regarding the long-lasting impacts on brain metabolism and behavioral outcomes from genetic insults on fetal NPCs during early life. We have established a new mouse model that specifically interrupts DISC1 functions in NPCs in vivo by a dominant-negative DISC1 (DN-DISC1) with a precise temporal and spatial regulation...
October 17, 2017: Oncotarget
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