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Genetics of Metabolic Syndrome

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https://www.readbyqxmd.com/read/28197949/the-impact-of-next-generation-sequencing-on-the-diagnosis-and-treatment-of-epilepsy-in-paediatric-patients
#1
REVIEW
Davide Mei, Elena Parrini, Carla Marini, Renzo Guerrini
Next-generation sequencing (NGS) has contributed to the identification of many monogenic epilepsy syndromes and is favouring earlier and more accurate diagnosis in a subset of paediatric patients with epilepsy. The cumulative information emerging from NGS studies is rapidly changing our comprehension of the relations between early-onset severe epilepsy and the associated neurological impairment, progressively delineating specific entities previously gathered under the umbrella definition of epileptic encephalopathies, thereby influencing treatment choices and limiting the most aggressive drug regimens only to those conditions that are likely to actually benefit from them...
February 14, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28191276/pathway-driven-approaches-of-interaction-between-oxidative-balance-and-genetic-polymorphism-on-metabolic-syndrome
#2
Ho-Sun Lee, Taesung Park
Despite evidences of association between basic redox biology and metabolic syndrome (MetS), few studies have evaluated indices that account for multiple oxidative effectors for MetS. Oxidative balance score (OBS) has indicated the role of oxidative stress in chronic disease pathophysiology. In this study, we evaluated OBS as an oxidative balance indicator for estimating risk of MetS with 6414 study participants. OBS is a multiple exogenous factor score for development of disease; therefore, we investigated interplay between oxidative balance and genetic variation for development of MetS focusing on biological pathways by using gene-set-enrichment analysis...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/28188436/clinical-and-molecular-aspects-of-distal-renal-tubular-acidosis-in-children
#3
Martine T P Besouw, Marc Bienias, Patrick Walsh, Robert Kleta, William G Van't Hoff, Emma Ashton, Lucy Jenkins, Detlef Bockenhauer
BACKGROUND: Distal renal tubular acidosis (dRTA) is characterized by hyperchloraemic metabolic acidosis, hypokalaemia, hypercalciuria and nephrocalcinosis. It is due to reduced urinary acidification by the α-intercalated cells in the collecting duct and can be caused by mutations in genes that encode subunits of the vacuolar H(+)-ATPase (ATP6V1B1, ATP6V0A4) or the anion exchanger 1 (SLC4A1). Treatment with alkali is the mainstay of therapy. METHODS: This study is an analysis of clinical data from a long-term follow-up of 24 children with dRTA in a single centre, including a genetic analysis...
February 10, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28187778/whole-body-mri-in-pediatric-patients-with-cancer
#4
REVIEW
Marcos Duarte Guimarães, Julia Noschang, Sara Reis Teixeira, Marcel Koenigkam Santos, Henrique Manoel Lederman, Vivian Tostes, Vikas Kundra, Alex Dias Oliveira, Bruno Hochhegger, Edson Marchiori
Cancer is the leading cause of natural death in the pediatric populations of developed countries, yet cure rates are greater than 70% when a cancer is diagnosed in its early stages. Recent advances in magnetic resonance imaging methods have markedly improved diagnostic and therapeutic approaches, while avoiding the risks of ionizing radiation that are associated with most conventional radiological methods, such as computed tomography and positron emission tomography/computed tomography. The advent of whole-body magnetic resonance imaging in association with the development of metabolic- and function-based techniques has led to the use of whole-body magnetic resonance imaging for the screening, diagnosis, staging, response assessment, and post-therapeutic follow-up of children with solid sporadic tumours or those with related genetic syndromes...
February 10, 2017: Cancer Imaging: the Official Publication of the International Cancer Imaging Society
https://www.readbyqxmd.com/read/28187313/il-20-contributes-to-low-grade-inflammation-and-weight-gain-in-the-psammomys-obesus
#5
Helena Cucak, Lise Høj Thomsen, Alexander Rosendahl
The metabolic syndrome has been demonstrated in gene deficient animals, e.g. db/db mice, to include a systemic inflammation leading to insulin resistance, obesity and type 2 diabetes (T2D). To determine the importance of inflammation in obesity and diabetes, in a normal non-genetically modified species, an intervention study with neutralizing anti-IL-20 antibodies was conducted in the spontaneous T2D model Psammomys obesus. All IL-20 receptor chains were expressed on protein level in the Psammomys obesus. Neutralization of IL-20 did not modulate blood glucose, HbA1c, insulin levels or lymphocyte numbers after five weeks treatment although a trend to reduced weight gain rate was observed upon anti-IL-20 treatment...
February 7, 2017: International Immunopharmacology
https://www.readbyqxmd.com/read/28179814/prenatal-stress-immune-programming-of-sex-differences-in-comorbidity-of-depression-and-obesity-metabolic-syndrome
#6
Jill M Goldstein, Laura Holsen, Grace Huang, Bradley D Hammond, Tamarra James-Todd, Sara Cherkerzian, Taben M Hale, Robert J Handa
Major depressive disorder (MDD) is the number one cause of disability worldwide and is comorbid with many chronic diseases, including obesity/metabolic syndrome (MetS). Women have twice as much risk for MDD and comorbidity with obesity/MetS as men, although pathways for understanding this association remain unclear. On the basis of clinical and preclinical studies, we argue that prenatal maternal stress (ie, excess glucocorticoid expression and associated immune responses) that occurs during the sexual differentiation of the fetal brain has sex-dependent effects on brain development within highly sexually dimorphic regions that regulate mood, stress, metabolic function, the autonomic nervous system, and the vasculature...
December 2016: Dialogues in Clinical Neuroscience
https://www.readbyqxmd.com/read/28177360/genomewide-association-of-piglet-responses-to-infection-with-one-of-two-porcine-reproductive-and-respiratory-syndrome-virus-isolates
#7
E H Waide, C K Tuggle, N V L Serão, M Schroyen, A Hess, R R R Rowland, J K Lunney, G Plastow, J C M Dekkers
Porcine reproductive and respiratory syndrome (PRRS) is a devastating disease in the swine industry. Identification of host genetic factors that enable selection for improved performance during PRRS virus (PRRSV) infection would reduce the impact of this disease on animal welfare and production efficiency. We conducted genomewide association study (GWAS) analyses of data from 13 trials of approximately 200 commercial crossbred nursery-age piglets that were experimentally infected with 1 of 2 type 2 isolates of PRRSV (NVSL 97-7985 [NVSL] and KS2006-72109 [KS06])...
January 2017: Journal of Animal Science
https://www.readbyqxmd.com/read/28160395/a-novel-disorder-of-sex-development-characterized-by-progressive-regression-of-testicular-function-and-cystic-leukoencephalopathy
#8
Massimiliano Rossi, Alexandre Vasiljevic, Audrey Labalme, Frédérique Dijoud, Delphine Mallet-Motak, Carmen Adina Petcu, Renaud Touraine, Christine Vianey-Saban, Laurent Guibaud, Patrick Edery, Damien Sanlaville, Yves Morel
We report a novel syndromic disorder of sex development observed in three male siblings, presenting with the association of micropenis without hypospadias, cryptorchidism, very low level of antimüllerian hormone in the neonatal period, and no persistent müllerian duct structures, suggesting a progressive regression of testicular function. The patients described here showed a striking neurological involvement including bilateral periventricular cysts observed in the anterior part of the frontal horns prenatally and increasing in size and number over time, associated with infra and supratentorial parenchymal atrophy, dilated ventricular system, corpus callosum hypoplasia, severe intellectual disability, and epilepsy...
February 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28143772/stearoyl-coa-desaturase-promotes-liver-fibrosis-and-tumor-development-in-mice-via-wnt-signaling-and-stabilization-of-low-density-lipoprotein-receptor-related-proteins-5-and-6
#9
Keane K Y Lai, Soo-Mi Kweon, Feng Chi, Edward Hwang, Yasuaki Kabe, Reiichi Higashiyama, Lan Qin, Rui Yan, Raymond P Wu, Naoaki Fujii, Samuel French, Jun Xu, Jian-Ying Wang, Ramanchadran Murali, Lopa Mishra, Ju-Seog Lee, James M Ntambi, Hidekazu Tsukamoto
BACKGROUND & AIMS: Stearoyl-CoA desaturase (SCD) synthesizes monounsaturated fatty acids (MUFAs) and has been associated with development of metabolic syndrome, tumorigenesis, and stem cell characteristics. We investigated whether and how SCD promotes liver fibrosis and tumor development in mice. METHODS: Rodent primary hepatic stellate cells (HSCs), mouse liver tumor-initiating stem cell-like cells (TICs), and human hepatocellular carcinoma (HCC) cell lines were exposed to Wnt signaling inhibitors and changes in gene expression patterns were analyzed...
January 28, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28143590/the-most-important-questions-in-cancer-research-and-clinical-oncology-question-2-5-obesity-related-cancers-more-questions-than-answers
#10
EDITORIAL
Ajit Venniyoor
Obesity is recognized as the second highest risk factor for cancer. The pathogenic mechanisms underlying tobacco-related cancers are well characterized and effective programs have led to a decline in smoking and related cancers, but there is a global epidemic of obesity without a clear understanding of how obesity causes cancer. Obesity is heterogeneous, and approximately 25% of obese individuals remain healthy (metabolically healthy obese, MHO), so which fat deposition (subcutaneous versus visceral, adipose versus ectopic) is "malignant"? What is the mechanism of carcinogenesis? Is it by metabolic dysregulation or chronic inflammation? Through which chemokines/genes/signaling pathways does adipose tissue influence carcinogenesis? Can selective inhibition of these pathways uncouple obesity from cancers? Do all obesity related cancers (ORCs) share a molecular signature? Are there common (over-lapping) genetic loci that make individuals susceptible to obesity, metabolic syndrome, and cancers? Can we identify precursor lesions of ORCs and will early intervention of high risk individuals alter the natural history? It appears unlikely that the obesity epidemic will be controlled anytime soon; answers to these questions will help to reduce the adverse effect of obesity on human condition...
January 31, 2017: Chinese Journal of Cancer
https://www.readbyqxmd.com/read/28135128/associations-between-adiposity-and-metabolic-syndrome-over-time-the-healthy-twin-study
#11
Yun-Mi Song, Joohon Sung, Kayoung Lee
BACKGROUND: We evaluated the association between changes in adiposity traits including anthropometric and fat mass indicators and changes in metabolic syndrome traits including metabolic syndrome clustering and individual components over time. We also assessed the shared genetic and environmental correlations between the two traits. METHODS: Participants were 284 South Korean twin individuals and 279 nontwin family members had complete data for changes in adiposity traits and metabolic syndrome traits of the Healthy Twin study...
January 30, 2017: Metabolic Syndrome and related Disorders
https://www.readbyqxmd.com/read/28129811/diagnosis-of-cystic-fibrosis-consensus-guidelines-from-the-cystic-fibrosis-foundation
#12
Philip M Farrell, Terry B White, Clement L Ren, Sarah E Hempstead, Frank Accurso, Nico Derichs, Michelle Howenstine, Susanna A McColley, Michael Rock, Margaret Rosenfeld, Isabelle Sermet-Gaudelus, Kevin W Southern, Bruce C Marshall, Patrick R Sosnay
OBJECTIVE: Cystic fibrosis (CF), caused by mutations in the CF transmembrane conductance regulator (CFTR) gene, continues to present diagnostic challenges. Newborn screening and an evolving understanding of CF genetics have prompted a reconsideration of the diagnosis criteria. STUDY DESIGN: To improve diagnosis and achieve standardized definitions worldwide, the CF Foundation convened a committee of 32 experts in CF diagnosis from 9 countries to develop clear and actionable consensus guidelines on the diagnosis of CF and to clarify diagnostic criteria and terminology for other disorders associated with CFTR mutations...
February 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28128413/protective-role-of-294-t-c-rs2016520-polymorphism-of-ppard-in-mexican-patients-with-colorectal-cancer
#13
M A Rosales-Reynoso, L I Wence-Chavez, A R Arredondo-Valdez, S Dumois-Petersen, P Barros-Núñez, M P Gallegos-Arreola, S E Flores-Martínez, J Sánchez-Corona
PPARD encodes for peroxisome proliferator-activated receptor delta, which plays a significant role in controlling lipid metabolism, atherosclerosis, inflammation, cancer growth, progression, and apoptosis. Accumulated evidence suggests that the polymorphism rs2016520 in PPARD is associated with lipid metabolism, obesity, metabolic syndrome, and type 2 diabetes mellitus. The aim of this study was to determine whether the single nucleotide polymorphism +294T/C (rs2016520) in PPARD is associated with colorectal cancer (CRC) in the Mexican population...
January 23, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28127831/vitamin-d-receptor-polymorphisms-and-the-polycystic-ovary-syndrome-a-systematic-review
#14
REVIEW
Guilherme Victor Oliveira Pimenta Dos Reis, Natália Alves Gontijo, Kathryna Fontana Rodrigues, Michelle Teodoro Alves, Cláudia Natália Ferreira, Karina Braga Gomes
Polycystic ovary syndrome (PCOS) is the most frequent endocrinological disorder that affects women of reproductive age, leading to metabolic alterations, such as hyperandrogenism, obesity, menstrual irregularities, insulin resistance, and polycystic ovaries. The etiology remains unclear, but several genetic and environmental factors have been correlated with manifestations of this syndrome. Vitamin D plays important roles in metabolic pathways affected by PCOS, including calcium homeostasis, the insulin pathway, and sex hormone synthesis...
January 27, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28126184/-breaking-paradigms-intestinal-microbiota-transplantation-preliminar-report
#15
Álvaro Zamudio-Tiburcio, Héctor Bermúdez-Ruiz, Hugo Ricardo Lezama-Guzmán, María Del Pilar Guevara-Ortigoza, Elena Islas-Solares, Francisco Antonio Sosa-López
In the fourth century, during the Chinese Dong Jin dynasty, the doctor Ge Hong described good results after the oral administration of a suspension prepared from human faeces in patients with severe diarrhoea or food poisoning. Faecal microbiota transplantation has been used for five years in order to treat different diseases in addition to the severe diarrhoea caused by Clostridium difficile(1). This paper aims to confirm that intestinal microbiota transplantation succeeds in reducing the negative impact of diseases such as severe diarrhoea, irritable bowel syndrome, anxiety, allergies, metabolic syndrome and others and that it is not only indicated for severe diarrhoea caused by C...
January 23, 2017: Cirugia y Cirujanos
https://www.readbyqxmd.com/read/28125972/gitelman-syndrome-in-a-south-african-family-presenting-with-hypokalaemia-and-unusual-food-cravings
#16
Pieter Du Toit van der Merwe, Megan A Rensburg, William L Haylett, Soraya Bardien, M Razeen Davids
BACKGROUND: Gitelman syndrome (GS) is an autosomal recessive renal tubular disorder characterised by renal salt wasting with hypokalaemia, metabolic alkalosis, hypomagnesaemia and hypocalciuria. It is caused by mutations in SLC12A3 encoding the sodium-chloride cotransporter on the apical membrane of the distal convoluted tubule. We report a South African family with five affected individuals presenting with hypokalaemia and unusual food cravings. METHODS: The affected individuals and two unaffected first degree relatives were enrolled into the study...
January 26, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28123175/a-novel-mutation-in-taz-causes-mitochondrial-respiratory-chain-disorder-without-cardiomyopathy
#17
Nurun N Borna, Yoshihito Kishita, Kaori Ishikawa, Kazuto Nakada, Jun-Ichi Hayashi, Yoshimi Tokuzawa, Masakazu Kohda, Hiromi Nyuzuki, Yzumi Yamashita-Sugahara, Takashi Nasu, Atsuhito Takeda, Kei Murayama, Akira Ohtake, Yasushi Okazaki
Tafazzin, encoded by the TAZ gene, is a mitochondrial membrane-associated protein that remodels cardiolipin (CL), an important mitochondrial phospholipid. TAZ mutations are associated with Barth syndrome (BTHS). BTHS is an X-linked multisystemic disorder affecting usually male patients. Through sequence analysis of TAZ, we found one novel mutation c.39_60del p.(Pro14Alafs*19) by whole-exome sequencing and a reported missense mutation c.280C>T p.(Arg94Cys) by Sanger sequencing in two male patients (Pt1 and Pt2)...
January 26, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28122587/diseases-associated-with-calcium-sensing-receptor
#18
REVIEW
C Vahe, K Benomar, S Espiard, L Coppin, A Jannin, M F Odou, M C Vantyghem
The calcium-sensing receptor (CaSR) plays a pivotal role in systemic calcium metabolism by regulating parathyroid hormone secretion and urinary calcium excretion. The diseases caused by an abnormality of the CaSR are genetically determined or are more rarely acquired. The genetic diseases consist of hyper- or hypocalcemia disorders. Hypercalcaemia disorders are related to inactivating mutations of the CASR gene either heterozygous (autosomal dominant familial benign hypercalcaemia, still named hypocalciuric hypercalcaemia syndrome type 1) or homozygous (severe neonatal hyperparathyroidism)...
January 25, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28119442/metabolic-syndrome-in-men-metsim-study-a-resource-for-studies-of-metabolic-and-cardiovascular-diseases
#19
Markku Laakso, Johanna Kuusisto, Alena Stancakova, Teemu Kuulasmaa, Päivi Pajukanta, Aldons Jake Lusis, Francis S Collins, Karen Mohlke, Michael Boehnke
METabolic Syndrome In Men (METSIM) study is a population-based study including 10,197 Finnish men examined in 2005-2010. The aim of the study is to investigate non-genetic and genetic factors associated with the risk of type 2 diabetes and cardiovascular disease, and with cardiovascular risk factors. The protocol includes a detailed phenotyping of the participants, an oral glucose tolerance test, fasting laboratory measurements including proton nuclear magnetic resonance measurements, mass spectometry metabolomics, adipose tissue biopsies from 1,400 participants, and a stool sample...
January 24, 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28118022/development-of-a-mouse-model-of-metabolic-syndrome-pulmonary-hypertension-and-heart-failure-with-preserved-ejection-fraction-ph-hfpef
#20
Qingqing Meng, Yen-Chun Lai, Neil J Kelly, Marta Bueno, Jeffrey Baust, Timothy Bachman, Dmitry Goncharov, Rebecca R Vanderpool, Josiah E Radder, Jian Hu, Elena Goncharova, Alison Morris, Ana L Mora, Steven D Shapiro, Mark T Gladwin
RATIONALE: Pulmonary hypertension associated with heart failure and preserved ejection fraction (PH-HFpEF; WHO Group II) secondary to left ventricular diastolic dysfunction is the most frequent cause of pulmonary hypertension. It is an increasingly recognized clinical complication of the metabolic syndrome. To date, no effective treatment has been identified and no genetically modifiable mouse model is available for advancing our understanding for PH-HFpEF. METHODS AND MAIN RESULTS: To develop a mouse model of PH-HFpEF, we exposed 36 mouse strains to 20 weeks of high-fat diet (HFD), followed by systematic evaluation of right and left ventricular pressure-volume analysis...
January 24, 2017: American Journal of Respiratory Cell and Molecular Biology
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