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Genetics of Metabolic Syndrome

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https://www.readbyqxmd.com/read/29032848/-ehlers-danlos-syndromes
#1
D-P Germain
Ehlers-Danlos syndromes (EDS) are a heterogeneous group of inheritable connective tissue disorders characterized by skin hyperextensibility, joint hypermobility and cutaneous fragility with delayed wound healing. Over and above these common features, they differ in the presence or absence of various organ and tissue abnormalities, and differences in genetic causal mechanisms and degree of severity. They are complex and multisystem diseases, with the majority being highly disabling because of major joint problems and neurosensory deficiencies, and in some cases, they may be life-threatening due to associated complications, especially vascular disorders...
October 9, 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/29025729/live-cell-imaging-of-cytosolic-nadh-nad-ratio-in-hepatocytes-and-liver-slices
#2
Ricard Masia, William J McCarty, Carolina Lahmann, Jay Luther, Raymond T Chung, Martin L Yarmush, Gary Yellen
Fatty liver disease (FLD), the most common chronic liver disease in the US, may be caused by alcohol or the metabolic syndrome. Alcohol is oxidized in the cytosol of hepatocytes by alcohol dehydrogenase (ADH), which generates NADH and increases cytosolic NADH/NAD(+) ratio. The increased ratio may be important for development of FLD, but our ability to examine this question is hindered by methodological limitations. To address this, we used the genetically-encoded fluorescent sensor Peredox to obtain dynamic, real-time measurements of cytosolic NADH/NAD(+) ratio in living hepatocytes...
October 12, 2017: American Journal of Physiology. Gastrointestinal and Liver Physiology
https://www.readbyqxmd.com/read/28992985/apoa1-and-apob-polymorphisms-and-apolipoprotein-concentrations-as-biomarkers-of-risk-in-acute-coronary-syndrome-relationship-with-lipid-lowering-therapy-effectiveness
#3
Fidel Casillas-Muñoz, Yeminia Valle, José Francisco Muñoz-Valle, Diana Emilia Martínez-Fernández, Gabriela Lizet Reynoso-Villalpando, Héctor Enrique Flores-Salinas, Mara Anaís Llamas-Covarrubias, Jorge Ramón Padilla-Gutiérrez
BACKGROUND AND OBJECTIVE: Lipid metabolism alterations contribute to acute coronary syndrome (ACS). rs670, rs5070 and rs693 polymorphisms have shown to modify the risk of cardiovascular disease. Apolipoprotein A-I (ApoA-I) plays a major role in reverse cholesterol transport; apolipoprotein B (ApoB) contributes to accumulation of cholesterol in the plaque. The aim of this study was to investigate the association of rs670 and rs5070 polymorphisms of APOA1 and rs693 polymorphism of APOB with ACS and circulating levels of its proteins and find if ApoB/ApoA-I could be implemented as an independent parameter of risk for cardiovascular disease and as a biomarker of lipid-lowering therapy effectiveness in Mexican population...
October 6, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28984484/the-perceptions-of-the-causes-of-cardiac-diseases-a-taxonomy
#4
Massimo Miglioretti, Claudia Meroni, Giacomo Baiardo, Gaia Savioli, Veronica Velasco
OBJECTIVE: This study verifies whether the open-ended question of the B-IPQ can collect causal attributions of patients with cardiac diseases, define the more frequent causal attributions reported, classify them and describe the relation between the classification of the causes and patients' characteristics. DESIGN: A group of 2011 patients with cardiac diseases was recruited during the first week of cardiac rehabilitation. PRIMARY OUTCOME MEASURES: Every participant filled in the B-IPQ and the HADS...
October 6, 2017: Psychology & Health
https://www.readbyqxmd.com/read/28979772/late-onset-bartter-syndrome-type-ii
#5
Benjamin Gollasch, Yoland-Marie Anistan, Sima Canaan-Kühl, Maik Gollasch
Mutations in the ROMK1 potassium channel gene (KCNJ1) cause antenatal/neonatal Bartter syndrome type II (aBS II), a renal disorder that begins in utero, accounting for the polyhydramnios and premature delivery that is typical in affected infants, who develop massive renal salt wasting, hypokalaemic metabolic alkalosis, secondary hyperreninaemic hyperaldosteronism, hypercalciuria and nephrocalcinosis. This BS type is believed to represent a disorder of the infancy, but not in adulthood. We herein describe a female patient with a remarkably late-onset and mild clinical manifestation of BS II with compound heterozygous KCNJ1 missense mutations, consisting of a novel c...
October 2017: Clinical Kidney Journal
https://www.readbyqxmd.com/read/28977444/the-genetics-of-circadian-rhythms-sleep-and-health
#6
Aarti Jagannath, Lewis Taylor, Zeinab Wakaf, Sridhar R Vasudevan, Russell G Foster
Circadian rhythms are 24-h rhythms in physiology and behaviour generated by molecular clocks, which serve to coordinate internal time with the external world. The circadian system is a master regulator of nearly all physiology and its disruption has major consequences on health. Sleep and circadian rhythm disruption (SCRD) is a ubiquitous feature in today's 24/7 society, and studies on shift-workers have shown that SCRD can lead not only to cognitive impairment, but also metabolic syndrome and psychiatric illness including depression (1,2)...
October 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28974732/intermediate-and-low-abundant-protein-analysis-of-vitamin-d-deficient-obese-and-non-obese-subjects-by-maldi-profiling
#7
Nasser M Al-Daghri, Enrica Torretta, Daniele Capitanio, Chiara Fania, Franca Rosa Guerini, Shaun B Sabico, Mario Clerici, Cecilia Gelfi
Obesity is a pathological condition caused by genetic and environmental factors, including vitamin D deficiency, which increases the risk of developing cardiovascular disorders and diabetes. This case-control study was designed to verify whether serum profiles could be identified differentiating obese and non-obese Saudis characterized by vitamin D deficiency and pathological levels of triglycerides, high-density lipoprotein cholesterol and high total cholesterol levels. The serum protein profiles of 64 vitamin D deficient (serum 25(OH)D < 50nmol/L) individuals with metabolic syndrome and with (n = 31; BMI ≥ 30) or without (n = 33; BMI < 30) obesity were analyzed by a quantitative label-free mass spectrometry approach (MALDI-profiling), combined with different serum immunodepletion strategies (Human7 and Human14 immuno-chromatographies), to analyze the intermediate- and low-abundant protein components...
October 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28968367/axonal-sensorimotor-polyneuropathies
#8
Yuebing Li
PURPOSE OF REVIEW: This article describes clinical features of axonal sensorimotor polyneuropathies based on selected etiologies. RECENT FINDINGS: Axonal sensorimotor polyneuropathies have been well described for some time. Recent advances include the assessment of the incidence of peripheral neuropathy in the elderly, the recognition of the limited influence of electrodiagnostic testing on the clinical management of uncomplicated axonal sensorimotor polyneuropathy, the development of guidelines for treatment of painful neuropathy, the identification of risk factors predisposing patients for chemotherapy-induced neuropathy, a report on the association of metabolic syndrome and idiopathic axonal sensorimotor neuropathy, and the availability of more cost-effective genetic testing for identifying inherited polyneuropathies...
October 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/28968242/huntington-s-disease-and-diabetes-chronological-sequence-of-its-association
#9
María Teresa Montojo, Miguel Aganzo, Nieves González
Although Huntington's disease (HD) is primarily considered a rare neurodegenerative disorder, it has been linked to glucose metabolism alterations and diabetes, as has been described in other neuro syndromes such as Friedreich's ataxia or Alzheimer's disease. This review surveys the existing literature on HD and its potential relationship with diabetes, glucose metabolism-related indexes and pancreas morphology, in humans and in animal's models. The information is reported in chronological sequence. That is, studies performed before and after the identification of the genetic defect underlying HD (CAG: encoding glutamine ≥36 repeats located in exon 1 of the HTT gene) and with the development and evolution of HD animal models...
2017: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/28966516/comprehensive-transcriptome-profiling-of-balding-and-non-balding-scalps-in-trichorhinophalangeal-syndrome-type-i-patient
#10
Yun-Ji Kim, Byulee Yoon, Kyudong Han, Byung Cheol Park
BACKGROUND: Trichorhinophalangeal syndrome (TRPS) patients tend to have alopecia that appears to be androgenetic, and this genetic model might give clues to the pathogenesis of hair loss or hair morphogenesis. OBJECTIVE: This study was conducted to identify additional genetic evidence of TRPS and hair morphogenesis from a TRPS patient. METHODS: From one TRPS type I patient, we extracted RNA and profiled whole transcriptome in non-balding and balding scalp areas using high-throughput RNA sequencing...
October 2017: Annals of Dermatology
https://www.readbyqxmd.com/read/28965845/the-immune-signaling-adaptor-lat-contributes-to-the-neuroanatomical-phenotype-of-16p11-2-bp2-bp3-cnvs
#11
Maria Nicla Loviglio, Thomas Arbogast, Aia Elise Jønch, Stephan C Collins, Konstantin Popadin, Camille S Bonnet, Giuliana Giannuzzi, Anne M Maillard, Sébastien Jacquemont, Binnaz Yalcin, Nicholas Katsanis, Christelle Golzio, Alexandre Reymond
Copy-number changes in 16p11.2 contribute significantly to neuropsychiatric traits. Besides the 600 kb BP4-BP5 CNV found in 0.5%-1% of individuals with autism spectrum disorders and schizophrenia and whose rearrangement causes reciprocal defects in head size and body weight, a second distal 220 kb BP2-BP3 CNV is likewise a potent driver of neuropsychiatric, anatomical, and metabolic pathologies. These two CNVs are engaged in complex reciprocal chromatin looping, intimating a functional relationship between genes in these regions that might be relevant to pathomechanism...
October 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28960039/hypogonadism-makes-dyslipidemia-in-klinefelter-s-syndrome
#12
Hyo Serk Lee, Chan Woo Park, Joong Shik Lee, Ju Tae Seo
Klinefelter's syndrome (KS) is a genetic syndrome that presents with hypogonadism and is associated with metabolic syndrome. Patients demonstrating hypogonadism show a greater prevalence of metabolic syndrome due to changes in body composition. We aimed to determine the association between KS and dyslipidemia. The KS group comprised 55 patients who visited the infertility clinic for an infertility evaluation and were confirmed as having a diagnosis of KS. The control group comprised 120 patients who visited the clinic for health screening...
November 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/28958596/increased-levels-of-inflammatory-plasma-markers-and-obesity-risk-in-a-mouse-model-of-down-syndrome
#13
REVIEW
M Fructuoso, L Rachdi, E Philippe, R G Denis, C Magnan, H Le Stunff, N Janel, M Dierssen
Down syndrome (DS) is caused by the trisomy of human chromosome 21 and is the most common genetic cause of intellectual disability. In addition to the intellectual deficiencies and physical anomalies, DS individuals present a higher prevalence of obesity and subsequent metabolic disorders than healthy adults. There is increasing evidence from both clinical and experimental studies indicating the association of visceral obesity with a pro-inflammatory status and recent studies have reported that obese people with DS suffer from low-grade systemic inflammation...
September 25, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28956331/phosphodiesterase-4b-as-a-therapeutic-target-for-cognitive-impairment-and-obesity-related-metabolic-diseases
#14
Steven J Clapcote
People in modern, affluent societies are living longer but also becoming increasingly overweight. With increased life expectancy comes increased risk of developing age-related cognitive decline and neurodegenerative diseases, such that an increasing proportion of life may be lived with cognitive impairment as age increases. Obesity is associated with poorer cognitive function in elderly subjects, and often leads to ill-health arising from various complications such as metabolic syndrome and type-2 diabetes mellitus...
2017: Advances in Neurobiology
https://www.readbyqxmd.com/read/28956320/oxytocin-and-prader-willi-syndrome
#15
Anahid Kabasakalian, Casara J Ferretti, Eric Hollander
In the chapter, we explore the relationship between the peptide hormone, oxytocin (OT), and behavioral and metabolic disturbances observed in the genetic disorder Prader-Willi Syndrome (PWS). Phenotypic and genotypic characteristics of PWS are described, as are the potential implications of an abnormal OT system with respect to neural development including the possible effects of OT dysfunction on interactions with other regulatory mediators, including neurotransmitters, neuromodulators, and hormones. The major behavioral characteristics are explored in the context of OT dysfunction, including hyperphagia, impulsivity, anxiety and emotion dysregulation, sensory processing and interoception, repetitive and restrictive behaviors, and dysfunctional social cognition...
September 28, 2017: Current Topics in Behavioral Neurosciences
https://www.readbyqxmd.com/read/28954502/clinical-and-hormonal-features-of-women-with-polycystic-ovary-syndrome-living-in-rural-and-urban-areas
#16
Krzysztof Katulski, Adam Czyzyk, Natalia Podkowa, Agnieszka Podfigurna-Stopa, Natalia Ignaszak, Katarzyna Paczkowska, Sylwia Slawek, Dariusz Szpurek, Blazej Meczekalski
INTRODUCTION: Polycystic ovary syndrome (PCOS) is one of the most common endocrinopathies among women at reproductive age, but its pathology remains unknown. From epidemiological studies it is known that endogenous, mainly genetic and exogenous, environmental factors are of importance. OBJECTIVE: The aim of the study was to compare the phenotype of women diagnosed with PCOS from urban and rural areas of Poland. According to the knowledge of the authors, this is first such study...
September 21, 2017: Annals of Agricultural and Environmental Medicine: AAEM
https://www.readbyqxmd.com/read/28948820/zbtb16-and-metabolic-syndrome-a-network-perspective
#17
O Šeda, L Šedová, J Včelák, M Vaňková, F Liška, B Bendlová
Metabolic syndrome is a prevalent, complex condition. The search for genetic determinants of the syndrome is currently undergoing a paradigm enhancement by adding systems genetics approaches to association studies. We summarize the current evidence on relations between an emergent new candidate, zinc finger and BTB domain containing 16 (ZBTB16) transcription factor and the major components constituting the metabolic syndrome. Information stemming from studies on experimental models with altered Zbtb16 expression clearly shows its effect on adipogenesis, cardiac hypertrophy and fibrosis, lipid levels and insulin sensitivity...
September 26, 2017: Physiological Research
https://www.readbyqxmd.com/read/28948586/-introduction-to-genetic-rare-disease-and-the-application-of-genetic-counseling
#18
Shao-Yin Chu, Chun-Ying Weng
Genetic disease or hereditary disease is a group of disorders that is caused by mutations in an individual's genome. The mutated genome or gene may be transmitted through the germ line during reproduction, causing certain recurrence risk in offspring and other family members. The heritability of these disorders is thus an important issue to deal with clinically. In Taiwan, a rare disease is defined as a disease that is prevalent in fewer than 1 in 10,000 individuals. As up to 80% of rare disease cases in Taiwan are genetic disease disorders, genetic disease may not rare...
October 2017: Hu Li za Zhi the Journal of Nursing
https://www.readbyqxmd.com/read/28943279/lobar-emphysema-distribution-is-associated-with-5-year-radiological-disease-progression
#19
Adel Boueiz, Yale Chang, Michael H Cho, George R Washko, Raul San José Estépar, Russell P Bowler, James D Crapo, Dawn L DeMeo, Jennifer G Dy, Edwin K Silverman, Peter J Castaldi
BACKGROUND: Emphysema has considerable variability in its regional distribution. Craniocaudal emphysema distribution is an important predictor of the response to lung volume reduction. However, there is little consensus regarding how to define upper lobe-predominant and lower lobe-predominant emphysema subtypes. Consequently, the clinical and genetic associations with these subtypes are poorly characterized. METHODS: We sought to identify subgroups characterized by upper-lobe or lower-lobe emphysema predominance and comparable amounts of total emphysema by analyzing data from 9,210 smokers with non-alpha-1-antitrypsin deficiency in the Genetic Epidemiology of COPD (COPDGene) cohort...
September 21, 2017: Chest
https://www.readbyqxmd.com/read/28936199/bone-status-in-a-patient-with-insulin-like-growth-factor-1-receptor-deletion-syndrome-bone-quality-and-structure-evaluation-using-dual-energy-x-ray-absorptiometry-peripheral-quantitative-computed-tomography-and-quantitative-ultrasonography
#20
Paola Pelosi, Elisabetta Lapi, Loredana Cavalli, Alberto Verrotti, Marilena Pantaleo, Maurizio de Martino, Stefano Stagi
Haploinsufficiency of the insulin-like growth factor (IGF)-1 receptor (IGF1R) gene is a rare, probably under-diagnosed, cause of short stature. However, the effects of IGF1R haploinsufficiency on glucose metabolism, bone status, and metabolism have rarely been investigated. We report the case of a patient referred to our center at the age of 18 months for short stature, failure to thrive, and Silver-Russell-like phenotype. Genetic analysis did not show hypomethylation of the 11p15.5 region or uniparental disomy of chromosome 7...
2017: Frontiers in Endocrinology
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