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https://www.readbyqxmd.com/read/28231377/evidence-based-s3-guidelines-for-diagnostics-and-treatment-of-venous-leg-ulcers-answer-to-dr-bertolini
#1
Martino Neumann
The differential diagnosis of a leg ulcer is broad with a great variety of diseases. Beside the well known as venous, arterial, mixed and diabetic most are rare. Prolidase deficiency is one of the rare causes.Nether the less it is an excellent suggestion to add also genetic diseases as prolidae deficiency to this Guideline. The committee will take this for the next revision.Martino Neumann, on behalf of the redaction of the EADF Guideline Diagnosis and Treatment of Venous Leg Ulcers This article is protected by copyright...
February 23, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28231072/total-pancreatectomy-with-islet-autotransplantation-resolves-pain-in-young-children-with-severe-chronic-pancreatitis
#2
Melena D Bellin, Gregory P Forlenza, Kaustav Majumder, Megan Berger, Martin L Freeman, Gregory J Beilman, Ty B Dunn, Timothy L Pruett, Michael Murati, Joshua J Wilhelm, Marie Cook, David E R Sutherland, Sarah J Schwarzenberg, Srinath Chinnakotla
OBJECTIVES: Fear of diabetes and major surgery may prohibit referral of young children severely affected by pancreatitis for total pancreatectomy with islet autotransplant (TPIAT). We evaluated outcomes in our youngest TPIAT recipients, 3 to 8 years of age at surgery. METHODS: Medical records were reviewed for 17 children (9 girls) ages 8 years or younger undergoing TPIAT from 2000 to 2014. Most (14/17) had genetic risk factors for pancreatitis. Since 2006, TPIAT recipients were followed prospectively with health questionnaires including assessments of pain and narcotic use, and scheduled hemoglobin A1c (HbA1c) and mixed-meal tolerance tests (6 mL/kg Boost HP) before surgery, and at regular intervals after...
March 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28231061/role-of-treatment-modifying-mthfr677c-t-and-1298a-c-polymorphisms-in-metformin-treated-puerto-rican-patients-with-type-2-diabetes-mellitus-and-peripheral-neuropathy
#3
Francisco J Jiménez-Ramírez, Liza M Castro, Clarymar Ortiz, Jennifer Concepción, Jessicca Y Renta, Raúl H Morales-Borges, Jorge R Miranda-Massari, Jorge Duconge
BACKGROUND: The study was conducted to investigate potential association between MTHFR genotypes and diabetic peripheral neuropathy (DPN) in Puerto Ricans with type-2 diabetes mellitus (T2DM) treated with metformin. The prevalence of major MTHFR polymorphisms in this cohort was also ascertained. METHODS: DNAs from 89 metformin-treated patients with T2DM and DPN were genotyped using the PCR-based RFLP assay for MTHFR677C>T and 1298A>C polymorphisms. Frequency distributions of these variants in the study cohort were compared to those reported for three reference populations (HapMap project) and controls (400 newborn specimens)...
February 23, 2017: Drug Metabolism and Personalized Therapy
https://www.readbyqxmd.com/read/28230165/mtdna-meta-analysis-reveals-both-phenotype-specificity-and-allele-heterogeneity-a-model-for-differential-association
#4
Shani Marom, Michael Friger, Dan Mishmar
Human mtDNA genetic variants have traditionally been considered markers for ancient population migrations. However, during the past three decades, these variants have been associated with altered susceptibility to various phenotypes, thus supporting their importance for human health. Nevertheless, mtDNA disease association has frequently been supported only in certain populations, due either to population stratification or differential epistatic compensations among populations. To partially overcome these obstacles, we performed meta-analysis of the multiple mtDNA association studies conducted until 2016, encompassing 53,975 patients and 63,323 controls...
February 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28229050/association-between-beta-fibrinogen-c148t-gene-polymorphism-and-risk-of-ischemic-stroke-in-a-north-indian-population-a-case-control-study
#5
Amit Kumar, Shubham Misra, Pradeep Kumar, Ram Sagar, Kameshwar Prasad
BACKGROUND AND PURPOSE: Stroke is a multifactorial disease influenced by both genetic and environmental factors. The aim of this case-control study was to determine the association between β-fibrinogen C148T (rs1800787) gene polymorphism and susceptibility to ischemic stroke (IS) in a North Indian population. METHODS: In the present case-control study, genotyping was performed using the PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) method on 250 IS patients and 250 age- and sex-matched controls...
January 2017: Pulse (Basel, Switzerland)
https://www.readbyqxmd.com/read/28228602/a-divergent-population-of-autoantigen-responsive-cd4-t-cells-in-infants-prior-to-%C3%AE-cell-autoimmunity
#6
Anne-Kristin Heninger, Anne Eugster, Denise Kuehn, Florian Buettner, Matthias Kuhn, Annett Lindner, Sevina Dietz, Sibille Jergens, Carmen Wilhelm, Andreas Beyerlein, Anette-G Ziegler, Ezio Bonifacio
Autoimmune diabetes is marked by sensitization to β cell self-antigens in childhood. We longitudinally followed at-risk children from infancy and performed single-cell gene expression in β cell antigen-responsive CD4(+) T cells through pre- and established autoimmune phases. A striking divergence in the gene signature of β cell antigen-responsive naïve CD4(+) T cells from children who developed β cell autoimmunity was found in infancy, well before the appearance of β cell antigen-specific memory T cells or autoantibodies...
February 22, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/28225053/genetically-predicted-milk-consumption-and-bone-health-ischemic-heart-disease-and-type-2-diabetes-a-mendelian-randomization-study
#7
Q Yang, S L Lin, S L Au Yeung, M K Kwok, L Xu, G M Leung, C M Schooling
BACKGROUND/OBJECTIVES: Milk provides protein and micronutrients, and is recommended by some dietary guidelines, particularly for bone health. Meta-analysis of small randomized controlled trials suggests that milk may increase bone mineral density, but they are very heterogeneous. No randomized controlled trial has assessed the effects of milk on major chronic diseases. Previous Mendelian randomization studies of milk did not consider bone health, found no effects on ischemic heart disease (IHD) or type 2 diabetes (T2D) but higher body mass index...
February 22, 2017: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28224192/serum-magnesium-and-the-risk-of-prediabetes-a-population-based-cohort-study
#8
Brenda C T Kieboom, Symen Ligthart, Abbas Dehghan, Steef Kurstjens, Jeroen H F de Baaij, Oscar H Franco, Albert Hofman, Robert Zietse, Bruno H Stricker, Ewout J Hoorn
AIMS/HYPOTHESIS: Previous studies have found an association between serum magnesium and incident diabetes; however, this association may be due to reverse causation, whereby diabetes may induce urinary magnesium loss. In contrast, in prediabetes (defined as impaired fasting glucose), serum glucose levels are below the threshold for urinary magnesium wasting and, hence, unlikely to influence serum magnesium levels. Thus, to study the directionality of the association between serum magnesium levels and diabetes, we investigated its association with prediabetes...
February 21, 2017: Diabetologia
https://www.readbyqxmd.com/read/28223291/ctrp7-deletion-attenuates-obesity-linked-glucose-intolerance-adipose-tissue-inflammation-and-hepatic-stress
#9
Pia S Petersen, Xia Lei, Risa M Wolf, Susana Rodriguez, Stefanie Y Tan, Hannah C Little, Michael A Schweitzer, Thomas H Magnuson, Kimberley E Steele, G William Wong
Chronic low-grade inflammation and cellular stress are important contributors to obesity-linked metabolic dysfunction. Here, we uncover an immune-metabolic role for C1q/TNF-related protein 7 (CTRP7), a secretory protein of the C1q family with previously unknown function. In obese humans, circulating CTRP7 levels were markedly elevated and positively correlated with BMI, glucose, insulin, insulin resistance index, hemoglobin A1c, and triglyceride levels. Expression of CTRP7 in liver was also significantly upregulated in obese humans and positively correlated with gluconeogenic genes...
February 21, 2017: American Journal of Physiology. Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28219962/psychological-manifestations-of-celiac-disease-autoimmunity-in-young-children
#10
Laura B Smith, Kristian F Lynch, Kalle Kurppa, Sibylle Koletzko, Jeffrey Krischer, Edwin Liu, Suzanne Bennett Johnson, Daniel Agardh
BACKGROUND AND OBJECTIVES: Psychological symptoms can be associated with celiac disease; however, this association has not been studied prospectively in a pediatric cohort. We examined mother report of psychological functioning in children persistently positive for tissue transglutaminase autoantibodies (tTGA), defined as celiac disease autoimmunity (CDA), compared with children without CDA in a screening population of genetically at-risk children. We also investigated differences in psychological symptoms based on mothers' awareness of their child's CDA status...
February 20, 2017: Pediatrics
https://www.readbyqxmd.com/read/28219675/tcf7l2-plays-crucial-roles-in-forebrain-development-through-regulation-of-thalamic-and-habenular-neuron-identity-and-connectivity
#11
Myungsin Lee, Jiyeon Yoon, Hobeom Song, Bumwhee Lee, Lam Tri Duc, Jaeseung Yoon, Kwanghee Baek, Hans Clevers, Yongsu Jeong
The thalamus acts as a central integrator for processing and relaying sensory and motor information to and from the cerebral cortex, and the habenula plays pivotal roles in emotive decision making by modulating dopaminergic and serotonergic circuits. These neural compartments are derived from a common developmental progenitor domain, called prosomere 2, in the caudal forebrain. Thalamic and habenular neurons exhibit distinct molecular profile, neurochemical identity, and axonal circuitry. However, the mechanisms of how their progenitors in prosomere 2 give rise to these two populations of neurons and contribute to the forebrain circuitry remains unclear...
February 17, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28219128/-correlation-between-polymorphism-of-angiotensin-converting-enzyme-gene-and-the-lower-extremity-atherosclerosis-in-type-2-diabetes-mellitus-patients
#12
Y Wang, T H Zhu, J W Tong, J F Wei, J X Sheng, X P Jin, L H Mu, X Chen
Objective: To explore the correlation between polymorphism of the angiotensin-converting enzyme (ACE) gene and lower extremity atherosclerosis (LEA) in type 2 diabetes mellitus (T2DM) patients. Methods: A total of 380 patients diagnosed with T2DM in Department of Endocrinology from June 2015 to March 2016 were enrolled and divided into two groups: group A had no LEA (n=120) and group B had LEA(n=260). Color doppler ultrasound was used to detect the vascular lesions of the patients. For all patients in groups A and B, the polymerase chain reaction (PCR) was applied to determined the insertion/deletion polymorphism in intron 16 of the ACE gene of the patients...
February 14, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28218639/genetic-variations-as-modifying-factors-to-dietary-zinc-requirements-a-systematic-review
#13
REVIEW
Kaitlin J Day, Melissa M Adamski, Aimee L Dordevic, Chiara Murgia
Due to reduced cost and accessibility, the use of genetic testing has appealed to health professionals for personalising nutrition advice. However, translation of the evidence linking polymorphisms, dietary requirements, and pathology risk proves to be challenging for nutrition and dietetic practitioners. Zinc status and polymorphisms of genes coding for zinc-transporters have been associated with chronic diseases. The present study aimed to systematically review the literature to assess whether recommendations for zinc intake could be made according to genotype...
February 17, 2017: Nutrients
https://www.readbyqxmd.com/read/28217245/genome-wide-association-test-of-multiple-continuous-traits-using-imputed-snps
#14
Baolin Wu, James S Pankow
More and more large cohort studies have conducted or are conducting genome-wide association studies (GWAS) to reveal the genetic components of many complex human diseases. These large cohort studies often collected a broad array of correlated phenotypes that reflect common physiological processes. By jointly analyzing these correlated traits, we can gain more power by aggregating multiple weak effects and shed light on the mechanisms underlying complex human diseases. The majority of existing multi-trait association test methods are based on jointly modeling the multivariate traits conditional on the genotype as covariate, and can readily accommodate the imputed SNPs by using their imputed dosage as a covariate...
2017: Statistics and its Interface
https://www.readbyqxmd.com/read/28215516/aisf-position-paper-on-nonalcoholic-fatty-liver-disease-nafld-updates-and-future-directions
#15
Amedeo Lonardo, Fabio Nascimbeni, Giovanni Targher, Mauro Bernardi, Ferruccio Bonino, Elisabetta Bugianesi, Alessandro Casini, Amalia Gastaldelli, Giulio Marchesini, Fabio Marra, Luca Miele, Filomena Morisco, Salvatore Petta, Fabio Piscaglia, Gianluca Svegliati-Baroni, Luca Valenti, Stefano Bellentani
This review summarizes our current understanding of nonalcoholic fatty liver disease (NAFLD), a multi-factorial systemic disease resulting from a complex interaction between a specific genetic background and multiple environmental/metabolic "hits". The role of gut microbiota, lipotoxicity, inflammation and their molecular pathways is reviewed in-depth. We also discuss the epidemiology and natural history of NAFLD by pinpointing the remarkably high prevalence of NAFLD worldwide and its inherent systemic complications: hepatic (steatohepatitis, advanced fibrosis and cirrhosis), cardio-metabolic (cardiovascular disease, cardiomyopathy, arrhythmias and type 2 diabetes) and neoplastic (primary liver cancers and extra-hepatic cancers)...
January 23, 2017: Digestive and Liver Disease
https://www.readbyqxmd.com/read/28214534/demographic-phenotypic-and-genetic-characteristics-of-centenarians-in-okinawa-and-honshu-japan-part-2-honshu-japan
#16
REVIEW
Yasumichi Arai, Takashi Sasaki, Nobuyoshi Hirose
The scope and purpose of this review was to summarize the aims, methods, findings, and future of centenarian and (semi)-supercentenarian studies in Japan, particularly those from our own interdisciplinary laboratory. Medically, approximately 97% of centenarians contract chronic diseases including hypertension and gastrointestinal disease; however, they present with few cardiovascular risk factors. The low prevalence of diabetes mellitus and carotid atherosclerotic plaques are peculiarities of centenarians, which could be associated with high adiponectin levels...
February 15, 2017: Mechanisms of Ageing and Development
https://www.readbyqxmd.com/read/28214518/potentiating-slc-transporter-activity-emerging-drug-discovery-opportunities
#17
REVIEW
Marie-Laure Rives, Jonathan A Javitch, Alan D Wickenden
Maintaining the integrity of cellular membranes is critical to protecting metabolic activities and genetic information from the environment. Regulation of transport across membranes of essential chemicals, including water, nutrients, hormones and many drugs, is therefore key to cellular homeostasis and physiological processes. The two main transporter superfamilies are ATP-binding cassette (ABC) transporters that primarily function as efflux transporters, and the solute carrier (SLC) transporters. SLC transporters encompass 52 gene families with almost 400 different human transporter genes...
February 15, 2017: Biochemical Pharmacology
https://www.readbyqxmd.com/read/28213833/molecular-imaging-in-synthetic-biology-and-synthetic-biology-in-molecular-imaging
#18
REVIEW
Assaf A Gilad, Mikhail G Shapiro
Biomedical synthetic biology is an emerging field in which cells are engineered at the genetic level to carry out novel functions with relevance to biomedical and industrial applications. This approach promises new treatments, imaging tools, and diagnostics for diseases ranging from gastrointestinal inflammatory syndromes to cancer, diabetes, and neurodegeneration. As these cellular technologies undergo pre-clinical and clinical development, it is becoming essential to monitor their location and function in vivo, necessitating appropriate molecular imaging strategies, and therefore, we have created an interest group within the World Molecular Imaging Society focusing on synthetic biology and reporter gene technologies...
February 17, 2017: Molecular Imaging and Biology: MIB: the Official Publication of the Academy of Molecular Imaging
https://www.readbyqxmd.com/read/28213398/foxo-integration-of-insulin-signaling-with-glucose-and-lipid-metabolism
#19
Sojin Lee, Henry H Dong
The forkhead box O family consists of FoxO1, FoxO3, FoxO4 and FoxO6 proteins in mammals. Expressed ubiquitously in the body, the four FoxO isoforms share in common the amino DNA binding domain, known as "forkhead box" domain. They mediate the inhibitory action of insulin or insulin-like growth factor on key functions involved in cell metabolism, growth, differentiation, oxidative stress, senescence, autophagy and aging. Genetic mutations in FoxO genes or abnormal expression of FoxO proteins are associated with metabolic disease, cancer or altered lifespan in humans and animals...
February 17, 2017: Journal of Endocrinology
https://www.readbyqxmd.com/read/28212332/type-1-diabetes-candidate-genes-linked-to-pancreatic-islet-cell-inflammation-and-beta-cell-apoptosis
#20
REVIEW
Joachim Størling, Flemming Pociot
Type 1 diabetes (T1D) is a chronic immune-mediated disease resulting from the selective destruction of the insulin-producing pancreatic islet β-cells. Susceptibility to the disease is the result of complex interactions between environmental and genetic risk factors. Genome-wide association studies (GWAS) have identified more than 50 genetic regions that affect the risk of developing T1D. Most of these susceptibility loci, however, harbor several genes, and the causal variant(s) and gene(s) for most of the loci remain to be established...
February 16, 2017: Genes
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