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Genetics of Metabolic Syndrome

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https://www.readbyqxmd.com/read/29663892/complement-components-c3-and-c4-and-the-metabolic-syndrome
#1
Melanie Copenhaver, Chack-Yung Yu, Robert P Hoffman
INTRODUCTION: Increased systemic inflammation is engaged likely plays a significant role in the development of adult cardiometabolic diseases such as insulin resistance, dyslipidemia, atherosclerosis, and hypertension. The complement system is part of the innate immune system and plays a key role in in regulation inflammation. Of particular importance is the activation of complement components C3 and C4. C3 is produced primarily by the liver but is also produced in adipocytes, macrophages and endothelial cells, all of which are present in adipose tissue...
April 17, 2018: Current Diabetes Reviews
https://www.readbyqxmd.com/read/29661871/the-genetic-polymorphism-ugt1a4-3-is-associated-with-low-posaconazole-plasma-concentrations-in-hematological-malignancy-patients-receiving-the-oral-suspension
#2
Hyeon Jeong Suh, Seo Hyun Yoon, Kyung-Sang Yu, Joo-Youn Cho, Sang-In Park, Eunyoung Lee, Jeong-Ok Lee, Youngil Koh, Kyoung-Ho Song, Pyoeng Gyun Choe, Eu Suk Kim, Soo-Mee Bang, Hong Bin Kim, Inho Kim, Nam Joong Kim, Sang Hoon Song, Wan Beom Park, Myoung-Don Oh
The metabolism of posaconazole is mediated mainly by uridine 5' -diphospho-glucuronosyltransferase (UGT) enzymes, especially the UGT1A4. The aim of this study was to investigate the effects of genetic polymorphisms on the posaconazole plasma concentration (PPC). This prospective study was conducted from September 2014 to August 2016. We enrolled patients with acute myeloid leukemia or myelodysplastic syndrome treated with posaconazole oral suspension (200 mg) three times daily for fungal prophylaxis. The multi-drug resistance gene 1 3435C>T and 2677G>T/A variations, and UGT1A4*3 were examined by direct sequencing of DNA from peripheral whole blood samples...
April 16, 2018: Antimicrobial Agents and Chemotherapy
https://www.readbyqxmd.com/read/29652911/pharmacogenetic-landscape-of-metabolic-syndrome-components-drug-response-in-tunisia-and-comparison-with-worldwide-populations
#3
Haifa Jmel, Lilia Romdhane, Yosra Ben Halima, Meriem Hechmi, Chokri Naouali, Hamza Dallali, Yosr Hamdi, Jingxuan Shan, Abdelmajid Abid, Henda Jamoussi, Sameh Trabelsi, Lotfi Chouchane, Donata Luiselli, Sonia Abdelhak, Rym Kefi
Genetic variation is an important determinant affecting either drug response or susceptibility to adverse drug reactions. Several studies have highlighted the importance of ethnicity in influencing drug response variability that should be considered during drug development. Our objective is to characterize the genetic variability of some pharmacogenes involved in the response to drugs used for the treatment of Metabolic Syndrome (MetS) in Tunisia and to compare our results to the worldwide populations. A set of 135 Tunisians was genotyped using the Affymetrix Chip 6...
2018: PloS One
https://www.readbyqxmd.com/read/29651444/an-updated-review-of-the-molecular-mechanisms-in-drug-hypersensitivity
#4
REVIEW
Chun-Bing Chen, Riichiro Abe, Ren-You Pan, Chuang-Wei Wang, Shuen-Iu Hung, Yi-Giien Tsai, Wen-Hung Chung
Drug hypersensitivity may manifest ranging from milder skin reactions (e.g., maculopapular exanthema and urticaria) to severe systemic reactions, such as anaphylaxis, drug reactions with eosinophilia and systemic symptoms (DRESS)/drug-induced hypersensitivity syndrome (DIHS), or Stevens-Johnson syndrome (SJS)/toxic epidermal necrolysis (TEN). Current pharmacogenomic studies have made important strides in the prevention of some drug hypersensitivity through the identification of relevant genetic variants, particularly for genes encoding drug-metabolizing enzymes and human leukocyte antigens (HLAs)...
2018: Journal of Immunology Research
https://www.readbyqxmd.com/read/29649030/resistin-is-a-novel-marker-for-postoperative-pain-intensity
#5
Jun Hozumi, Masahiko Sumitani, Daisuke Nishizawa, Makoto Nagashima, Kazutaka Ikeda, Hiroaki Abe, Ryoji Kato, Yoshiomi Kusakabe, Yoshitsugu Yamada
BACKGROUND: Pro- and anti-inflammatory cytokines (adipokines) associated with adipose tissue can modulate inflammatory processes and lead to systemic inflammatory conditions such as metabolic syndrome. In the present pilot study, we investigated 3 major adipokines (leptin, adiponectin, and resistin) and 2 nonspecific proinflammatory cytokines (tumor necrosis factor α and interleukin-6) with regard to their association with postoperative pain intensity. METHODS: We analyzed a total of 45 single-nucleotide polymorphisms of the adipokines in 57 patients with postlaparotomy pain...
April 11, 2018: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/29643945/epigenome-wide-association-study-of-metabolic-syndrome-in-african-american-adults
#6
Tomi Akinyemiju, Anh N Do, Amit Patki, Stella Aslibekyan, Degui Zhi, Bertha Hidalgo, Hemant K Tiwari, Devin Absher, Xin Geng, Donna K Arnett, Marguerite R Irvin
Background: The high prevalence of obesity among US adults has resulted in significant increases in associated metabolic disorders such as diabetes, dyslipidemia, and high blood pressure. Together, these disorders constitute metabolic syndrome, a clinically defined condition highly prevalent among African-Americans. Identifying epigenetic alterations associated with metabolic syndrome may provide additional information regarding etiology beyond current evidence from genome-wide association studies...
2018: Clinical Epigenetics
https://www.readbyqxmd.com/read/29629676/a-proposed-management-algorithm-for-late-onset-efavirenz-neurotoxicity
#7
H M Cross, S Chetty, M T Asukile, H S Hussey, E B Lee Pan, L M Tucker
A high proportion of HIV-positive patients in South Africa receive concomitant efavirenz (EFV) and isoniazid (INH) therapy. EFV is metabolised in the liver via CYP2B6, and genetic polymorphism of CYP2B6 is known to result in slowed metabolism of the drug. INH is also metabolised in the liver, causing inhibition of a pathway that plays an important role in slow EFV metabolisers. Concomitant INH use therefore affects plasma levels of EFV. EFV is well known to cause neuropsychiatric side-effects on initiation, and a recent adult case series described late-onset neurotoxicity in the form of subacute ataxia and encephalopathy in patients treated with EFV for a median of 2 years, in association with toxic plasma levels of the drug...
March 28, 2018: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/29628727/inositols-in-midlife
#8
Sanjay Kalra, Bharti Kalra
This review describes the mechanistic, animal, and clinical data related to the use of inositols in midlife. It covers studies related to the mechanism of action of myo-inositol and D-chiro-inositol and randomized controlled trials conducted in postmenopausal women with metabolic syndrome and supports these data with the results of in vitro and animal studies on inositol in nephropathy and other related conditions. Recent advances related to biochemistry, pharmaceutical science, and genetics are discussed. It concludes that inositols have a potential role to play in maintaining metabolic health in postmenopausal women...
January 2018: Journal of Mid-life Health
https://www.readbyqxmd.com/read/29627041/obesity-and-asthma
#9
REVIEW
Ubong Peters, Anne E Dixon, Erick Forno
Obesity is a vast public health problem and both a major risk factor and disease modifier for asthma in children and adults. Obese subjects have increased asthma risk, and obese asthmatic patients have more symptoms, more frequent and severe exacerbations, reduced response to several asthma medications, and decreased quality of life. Obese asthma is a complex syndrome, including different phenotypes of disease that are just beginning to be understood. We examine the epidemiology and characteristics of this syndrome in children and adults, as well as the changes in lung function seen in each age group...
April 2018: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29624500/homocysteine-is-the-confounding-factor-of-metabolic-syndrome-confirmed-by-sims-score
#10
Branko Srećković, Ivan Soldatovic, Emina Colak, Igor Mrdovic, Mirjana Sumarac-Dumanovic, Hristina Janeski, Nenad Janeski, Jasna Gacic, Vesna Dimitrijevic-Sreckovic
BACKGROUND: Abdominal adiposity has a central role in developing insulin resistance (IR) by releasing pro-inflammatory cytokines. Patients with metabolic syndrome (MS) have higher values of homocysteine. Hyperhomocysteinemia correlates with IR, increasing the oxidative stress. Oxidative stress causes endothelial dysfunction, hypertension and atherosclerosis. The objective of the study was to examine the correlation of homocysteine with siMS score and siMS risk score and with other MS co-founding factors...
April 6, 2018: Drug Metabolism and Personalized Therapy
https://www.readbyqxmd.com/read/29623483/genome-instability-syndromes-caused-by-impaired-dna-repair-and-aberrant-dna-damage-responses
#11
REVIEW
Takeshi Terabayashi, Katsuhiro Hanada
Maintenance of genome integrity is essential for all organisms because genome information regulates cell proliferation, growth arrest, and vital metabolic processes in cells, tissues, organs, and organisms. Because genomes are constantly exposed to intrinsic and extrinsic genotoxic stress, cellular DNA repair machinery and proper DNA damage responses (DDR) have evolved to quickly eliminate genotoxic DNA lesions, thus maintaining the genome integrity suitably. In human, germline mutations in genes involved not only in cellular DNA repair pathways but also in cellular DDR machinery frequently predispose hereditary diseases associated with chromosome aberrations...
April 5, 2018: Cell Biology and Toxicology
https://www.readbyqxmd.com/read/29622714/hypocalcaemia-in-an-adult-the-importance-of-not-overlooking-the-cause
#12
Catarina Abrantes, Daniela Brigas, Hugo Jorge Casimiro, Margarida Madeira
A 58-year-old male patient was admitted at the São Bernardos's Hospital (Setúbal, Portugal) with generalised muscle spasms, dyspnoea, laryngospasm and bronchospasm in the context of severe hypocalcaemia. Despite efforts to correct serum calcium, it remained below average, leading to question the true cause of hypocalcaemia. Low parathyroid hormone and 25-hydroxyvitamin D, along with facial anomalies, palate defect and cognitive impairment with concomitant psychiatric disorder led to a suspicion of a DiGeorge/velocardiofacial/22q11...
April 5, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29622662/potential-genetic-polymorphisms-predicting-polycystic-ovary-syndrome
#13
Yao Chen, Shu-Ying Fang
Polycystic ovary syndrome (PCOS) is a heterogenous endocrine disorder with typical symptoms of oligomenorrhoea, hyperandrogenism, hirsutism, obesity, insulin resistance and increased risk of type 2 diabetes mellitus. Extensive evidence indicates that PCOS is a genetic disease and numerous biochemical pathways have been linked with its pathogenesis. A number of genes from these pathways have been investigated, which include those involved with steroid hormone biosynthesis and metabolism, action of gonadotropin and gonadal hormones, folliculogenesis, obesity and energy regulation, insulin secretion and action and many others...
April 5, 2018: Endocrine Connections
https://www.readbyqxmd.com/read/29619630/is-migraine-primarily-a-metaboloendocrine-disorder
#14
REVIEW
Innocenzo Rainero, Flora Govone, Annalisa Gai, Alessandro Vacca, Elisa Rubino
PURPOSE OF THE REVIEW: The goals of this review are to evaluate recent studies regarding comorbidity between migraine and different metabolic and endocrine disorders and to discuss the role of insulin resistance as a common pathogenetic mechanism of these diseases. RECENT FINDINGS: Recently, several studies showed that migraine is associated with insulin resistance, a condition in which a normal amount of insulin induces a suboptimal physiological response. All the clinical studies that used the oral glucose tolerance test to examine insulin sensitivity found that, after glucose load, there is in migraine patients a significant increase of both plasmatic insulin and glucose concentrations in comparison with controls...
April 4, 2018: Current Pain and Headache Reports
https://www.readbyqxmd.com/read/29619418/the-role-of-intestinal-c-type-regenerating-islet-derived-3-lectins-for-nonalcoholic-steatohepatitis
#15
Sena Bluemel, Lirui Wang, Cameron Martino, Suhan Lee, Yanhan Wang, Brandon Williams, Angela Horvath, Vanessa Stadlbauer, Karsten Zengler, Bernd Schnabl
C-type regenerating islet derived-3 (Reg3) lectins defend against pathogens and keep commensal bacteria at a distance. Deficiency of Reg3g and Reg3b facilitates alcohol-induced bacterial translocation and alcoholic liver disease. Intestinal Reg3g is down-regulated in animal models of diet-induced obesity, but the functional consequences for nonalcoholic steatohepatitis (NASH) are unknown. The aim of this study was to investigate the role of Reg3 lectins in NASH. NASH was induced by a Western-style fast-food diet in mice deficient for Reg3g or Reg3b and in transgenic mice overexpressing Reg3g in intestinal epithelial cells ( Reg3g Tg)...
April 2018: Hepatology Communications
https://www.readbyqxmd.com/read/29610180/blue-diaper-syndrome-and-pcsk1-mutations
#16
Felix Distelmaier, Diran Herebian, Claudia Atasever, Stefanie Beck-Woedl, Ertan Mayatepek, Tim M Strom, Tobias B Haack
Blue diaper syndrome (BDS) (Online Mendelian Inheritance in Man number 211000) is an extremely rare disorder that was first described in 1964. The characteristic finding is a bluish discoloration of urine spots in the diapers of affected infants. Additional clinical features of the first described patients included diarrhea, inadequate weight gain, hypercalcemia, and nephrocalcinosis. An intestinal defect of tryptophan absorption was postulated as the underlying pathology. However, functional evidence for this theory is lacking...
April 2018: Pediatrics
https://www.readbyqxmd.com/read/29607311/shiftwork-mediated-disruptions-of-circadian-rhythms-and-sleep-homeostasis-cause-serious-health-problems
#17
REVIEW
Suliman Khan, Pengfei Duan, Lunguang Yao, Hongwei Hou
Shiftwork became common during the last few decades with the growing demands of human life. Despite the social inactivity and irregularity in habits, working in continuous irregular shifts causes serious health issues including sleep disorders, psychiatric disorders, cancer, and metabolic disorders. These health problems arise due to the disruption in circadian clock system, which is associated with alterations in genetic expressions. Alteration in clock controlling genes further affects genes linked with disorders including major depression disorder, bipolar disorder, phase delay and phase advance sleep syndromes, breast cancer, and colon cancer...
2018: International Journal of Genomics
https://www.readbyqxmd.com/read/29604340/a-case-of-pitt-hopkins-syndrome-with-de-novo-mutation-in-tcf4-clinical-features-and-treatment-for-epilepsy
#18
Yedan Liu, Ya Guo, Peipei Liu, Fei Li, Chengqing Yang, Jie Song, Jingfei Hu, Dandan Xin, Zongbo Chen
Pitt-Hopkins syndrome (PTHS), belonging to the group of 18q-syndromes, is a rare genetic disorder caused by mutations in TCF4. PTHS is characterized by distinctive facial appearance, intermittent hyperventilation, intellectual disability and developmental delay. Although patients with PTHS generally have various systemic symptoms, most of themwith a TCF4 mutation manifest the central nervous system (CNS) disorders. We described the first Chinese case with Pitt-Hopkins syndrome based on clinical presentations and genetic findings...
March 28, 2018: International Journal of Developmental Neuroscience
https://www.readbyqxmd.com/read/29604226/stem-cell-modeling-of-mitochondrial-parkinsonism-reveals-key-functions-of-opa1
#19
Mindaugas Jonikas, Martin Madill, Alexandre Mathy, Theresa Zekoll, Christos E Zois, Simon Wigfield, Marzena Kurzawa-Akanbi, Cathy Browne, David Sims, Patrick F Chinnery, Sally A Cowley, George K Tofaris
OBJECTIVE: Defective mitochondrial function due to OPA1 mutations causes primarily optic atrophy and less commonly neurodegenerative syndromes. The pathomechanism by which OPA1 mutations trigger diffuse loss of neurons in some but not all patients is unknown. Here we used a tractable iPSC-based model to capture the biology of OPA1 haploinsufficiency in cases presenting with classic eye disease versus syndromic parkinsonism. METHODS: iPSC were generated from two patients with OPA1 haploinsufficiency and two controls and differentiated into dopaminergic neurons...
March 31, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29602783/quantitative-imaging-flow-cytometry-of-legionella-infected-dictyostelium-reveals-the-impact-of-retrograde-trafficking-on-pathogen-vacuole-composition
#20
Amanda Welin, Stephen Weber, Hubert Hilbi
The ubiquitous environmental bacterium Legionella pneumophila survives and replicates within amoebae and human macrophages by forming a Legionella -containing vacuole (LCV). In an intricate process governed by the bacterial Icm/Dot type IV secretion system and a plethora of "effector proteins" the nascent LCV interferes with a number of intracellular trafficking pathways, including retrograde transport from endosomes to the Golgi apparatus. Conserved retrograde trafficking components such as the retromer coat complex or the phosphoinositide (PI) 5-phosphatase Dd5P4/OCRL restrict intracellular replication of L...
March 30, 2018: Applied and Environmental Microbiology
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