Mostrando recursos 181 - 200 de 180,236

  1. RESEARCH ARTICLE Differing Evolutionary Histories of the ACTN3R577X Polymorphism among the Major Human Geographic Groups

    Carlos Eduardo; G. Amorim; Victor Acuña-alonzo; Francisco M. Salzano; Cátira Bortolini; Tábita Hünemeier
    It has been proposed that the functional ACTN3*R577X polymorphism might have evolved due to selection in Eurasian human populations. To test this possibility we surveyed all available population-based data for this polymorphism and performed a comprehensive evolutionary analysis of its genetic diversity, in order to assess the action of adaptive and random mechanisms on its variation across human geographical distribution. The derived 577X allele increases in frequency with distance from Africa, reaching the highest frequen-cies on the American continent. Positive selection, detected by an extended haplotype homozygosisty test, was consistent only with the Eurasian data, but simulations with neutral models...

  2. Genetics and human rights. Two histories: Restoring genetic identity after forced disappearance and identity suppression in Argentina and after compulsory isolation for leprosy in Brazil

    Victor B. Penchaszadeh; Lavinia Schuler-faccini
    Over the past three decades, there has been an accelerated development of genetic technology, leading to its use in human genetic identification for many purposes. Additionally, it has been made explicit that identity is a fundamental human right. A number of historical circumstances have connected these developments. Personal identity is increas-ingly associated with the preservation and defense of human rights and is a tool to repair the violation of these rights, particularly the right to identity. In this article, we report the use of genetics to support the right to identity in two histori-cal circumstances. First, we report the search,...

  3. Caetano-Anollés G (2008) Evolutionary patterns in the sequence and structure of transfer RNA: early origins of Archaea and viruses. PLoS Comput Biol 4: e1000018

    Feng-jie Sun
    Transfer RNA (tRNA) molecules play vital roles during protein synthesis. Their acceptor arms are aminoacylated with specific amino acid residues while their anticodons delimit codon specificity. The history of these two functions has been generally linked in evolutionary studies of the genetic code. However, these functions could have been differentially recruited as evolutionary signatures were left embedded in tRNA molecules. Here we built phylogenies derived from the sequence and structure of tRNA, we forced taxa into monophyletic groups using constraint analyses, tested competing evolutionary hypotheses, and generated timelines of amino acid charging and codon discovery. Charging of Sec, Tyr, Ser...

  4. Evaluation of Nuchal Translucency Measurement in First Trimester Pregnancy


    Background: A significant number of pregnancies, particularly in women with previous histories of infertility, are associated with fetal abnormalities. Methods such as the nuchal translucency (NT) measurement enable us to identify more pregnancies with chromosomal abnormalities. Materials and Methods: This analytic cross-sectional study was performed in 446 pregnant women at 11-14 weeks gestation, from 2009 to 2010 in the Fetal Medicine Unit of Imam Khomeini Hospital, Ahvaz Jundishapur University of Medical Sciences. All NT measurements were performed by a certified sonographer using the Fetal Medicine Foundation (FMF) recommended protocol. FMF first trimester software was used for primary and secondary (adjusted)...

  5. Signatures of Demography and Recombination at Coding Genes in Naturally-Distributed Populations of

    Arabidopsis Lyrata; Subsp Petraea; Cynthia C. Vigueira; Brad Rauh; Thomas Mitchell-olds; Amy L. Lawton-rauh
    Demography impacts the observed standing level of genetic diversity present in populations. Distinguishing the relative impacts of demography from selection requires a baseline of expressed gene variation in naturally occurring populations. Six nuclear genes were sequenced to estimate the patterns and levels of genetic diversity in natural Arabidopsis lyrata subsp. petraea populations that differ in demographic histories since the Pleistocene. As expected, northern European populations have genetic signatures of a strong population bottleneck likely due to glaciation during the Pleistocene. Levels of diversity in the northern populations are about half of that in central European populations. Bayesian estimates of historical...

  6. Open Access Exploring Chemotherapy-Induced Toxicities through Multivariate Projection of Risk Factors: Prediction of Nausea and Vomiting

    Kevin Yi-lwern Yap; Xiu Hui Low; Re Chan
    Many risk factors exist for chemotherapy-induced nausea and vomiting (CINV). This study utilized a mul-tivariate projection technique to identify which risk factors were predictive of CINV in clinical practice. A single-centre, prospective, observational study was conducted from January 2007~July 2010 in Singapore. Patients were on highly (HECs) and moderately emetogenic chemotherapies with/without radiotherapy. Patient demographics and CINV risk factors were documented. Daily recording of CINV events was done using a standardized diary. Principal component (PC) analysis was performed to identify which risk fac-tors could differentiate patients with and without CINV. A total of 710 patients were recruited. Majority were females...

  7. Projecting the Effect of Changes in Smoking and Obesity on Future Life Expectancy in the United States

    Samuel H. Preston; Andrew Stokes; Neil K. Mehta; Bochen Cao
    # The Author(s) 2013. This article is published with open access at Springerlink.com Abstract We estimate the effects of declining smoking and increasing obesity on mortality in the United States over the period 2010–2040. Data on cohort behavioral histories are integrated into these estimates. Future distributions of body mass indices are projected using transition matrices applied to the initial distribution in 2010. In addition to projections of current obesity, we project distributions of obesity when cohorts are age 25. To these distributions, we apply death rates by current and age-25 obesity status observed in the National Health and Nutrition Examination...

  8. Mutation Accumulation May Only Be a Minor Force in Shaping Life-History Traits, Even when Reproduction Is Sexual

    Maciej Jan Dańko; Jan Kozłowski
    In a previous theoretical study we investigated whether adaptive or non-adaptive processes are more important in the evolution of senescence. We built a model that combined both processes and found that mutation accumulation is important only at those ages where mortality has a negligible impact on fitness. This model, however, was limited to haploid organisms. Here we extend our model by introducing diploidy and sexual reproduction. We assume that only recessive (mutated) homozygotes experience detrimental effects. Our results corroborate our previous conclusions, confirming that life histories are largely determined by adaptive processes. We also found that the equilibrium frequencies of...

  9. Two Cases of Bronchopulmonary Dysplasia of Similar Appearance in Adult Monozygotic Twin: Pathology and Computed Tomographic Findings

    Yoon Pyo Lee; Eun Mi Chun; Ph. D; Yoo Kyung Kim; Sun Hee Sung
    Bronchopulmonary dysplasia (BPD) is related to decreased lung function throughout life. However, the pathology and radiology pattern of BPD of adults are not documented well yet. In this case report, we present BPD case of an adult monozygotic twin showing nearly identical lesions on chest computed tomography (CT). CT images showed mixed areas of ground-glass and reticular opacities in both lungs. They had common histories of pneumonias requiring mechanical ventilations in period of infants. Pulmonary function test of one patient showed a pulmonary insufficiency with airway obstruction. Pathologic findings showed bronchiolar hyperplasia and peribronchiolar fibrosis which was similar to classic...

  10. M: Plant F-box protein evolution is determined by lineage-specific timing of major gene family expansion waves. PLoS One 2013

    Aura Navarro-quezada; Nadine Schumann; Marcel Quint
    F-box proteins (FBPs) represent one of the largest and fastest evolving gene/protein families in the plant kingdom. The FBP superfamily can be divided in several subfamilies characterized by different C-terminal protein-protein interaction domains that recruit targets for proteasomal degradation. Hence, a clear picture of their phylogeny and molecular evolution is of special interest for the general understanding of evolutionary histories of multi-domain and/or large protein families in plants. In an effort to further understand the molecular evolution of F-box family proteins, we asked whether the largest subfamily in Arabidopsis thaliana, which carries a C-terminal F-box associated domain (FBA proteins) shares...

  11. HISTORY OF CARDIAC AND THORACIC SURGERY

    Paul Dudley; White Joseph Garl; Opisali Przypadek; Magdalena Mazurak; Jacek Kusa
    nieprawidłowego odejścia lewej tętnicy wieńcowej od tętnicy płucnej (ALCAPA) u 3-miesięcznego chłopca. Dziecko zmarło po 2 tygodniach hospitalizacji. Ojcem tego niemowlęcia był dr Aubrey Hampton, radiolog, kolega z pracy White’a, Blanda i Garlanda. Niniejsze opracowanie jest spojrzeniem z perspek-tywy 80. rocznicy pierwszego klinicznego opisu ALCAPA. Słowa kluczowe: zespół Blanda-White’a-Garlanda, ALCAPA, historia medycyny.

  12. www.mdpi.com/journal/ijerph Article Residential Mobility and Breast Cancer in Marin County,

    Geoffrey M. Jacquez; Janice Barlow; Robert Rommel; Andy Kaufmann; Michael Rienti; Gillian Avruskin; Jawaid Rasul
    Abstract: Marin County (California, USA) has among the highest incidences of breast cancer in the U.S. A previously conducted case-control study found eight significant risk factors in participants enrolled from 1997–1999. These included being premenopausal, never using birth control pills, lower highest lifetime body mass index, having four or more mammograms from 1990–1994, beginning drinking alcohol after age 21, drinking an average two or more alcoholic drinks per day, being in the highest quartile of pack-years of cigarette smoking, and being raised in an organized religion. Previously conducted surveys provided residential histories; while ܳ statistic accounted for participants ’ residential...

  13. Research Article Clinical Features and Genetic Analysis of 20 Chinese Patients with X-Linked Hyper-IgM Syndrome


    Copyright © 2014 Lin-Lin Wang et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. X-linked hyper-IgM syndrome (XHIGM) is one type of primary immunodeficiency diseases, resulting from defects in the CD40 ligand/CD40 signaling pathways. We retrospectively analyzed the clinical and molecular features of 20 Chinese patients diagnosed and followed up in hospitals affiliated to Shanghai Jiao TongUniversity School ofMedicine from 1999 to 2013.Themedian onset age of these patients was 8.5 months (range: 20 days–21 months). Half of...

  14. ORIGINAL PAPER Unmet needs in squamous cell carcinoma of the lung: potential role for immunotherapy

    Thomas E. Stinchcombe
    Abstract Squamous cell carcinoma of the lung accounts for 20–30 % of non-small cell lung cancers (NSCLC). Despite the differences in disease characteristics between squamous and non-squamous NSCLC, both have histori-cally been treated similarly in the clinic. Recently approved drugs have revealed differences in activity and safety profiles across histologic subtypes and have applicability in treating non-squamous, but not typically squamous, NSCLC. Exploration of immune checkpoints—co-inhibi-tory molecules used to regulate immune responses—has resulted in novel immunotherapies designed to interrupt signaling through the cytotoxic T lymphocyte-associated antigen-4 or programmed cell death protein-1 pathways on lymphocytes. Modulation of these pathways can lead...

  15. RESEARCH ARTICLE Independent Demographic Responses to Climate Change among Temperate and Tropical Milksnakes (Colubridae: Genus Lampropeltis)

    Sara Ruane; Omar Torres-carvajal; Frank T. Burbrink
    The effects of Late Quaternary climate change have been examined for many temperate NewWorld taxa, but the impact of Pleistocene glacial cycles on Neotropical taxa is less well understood, specifically with respect to changes in population demography. Here, we exam-ine historical demographic trends for six species of milksnake with representatives in both the temperate and tropical Americas to determine if species share responses to climate change as a taxon or by area (i.e., temperate versus tropical environments). Using a multilo-cus dataset, we test for the demographic signature of population expansion and decline using non-genealogical summary statistics, as well as coalescent-based...

  16. The KRAS-variant is associated with risk of developing double primary breast and ovarian cancer. PLoS ONE 2012, 7, e37891. [CrossRef] [PubMed

    Robert Pilarski; Divya A. Patel; Jeffrey Weitzel; Terri Mcveigh; Jemima J. Dorairaj; Helen M. Heneghan; Nicola Miller; Joanne B. Weidhaas; Michael J. Kerin; Megan Mckenna
    Purpose: A germline microRNA binding site-disrupting variant, the KRAS-variant (rs61764370), is associated with an increased risk of developing several cancers. Because this variant is most strongly associated with ovarian cancer risk in patients from hereditary breast and ovarian families (HBOC), and with the risk of premenopausal triple negative breast cancer, we evaluated the association of the KRAS-variant with women with personal histories of both breast and ovarian cancer, referred to as double primary patients. Experimental Design: Germline DNA from double primary patients was tested for the KRAS-variant (n = 232). Confirmation of pathologic diagnoses, age of diagnoses, interval between ovarian...

  17. Reviewed by:

    Syuichi Ooki; Gjurgjica Badzakova-trajkov The; Jennifer Mary Gurd
    There has been a long-standing debate on the complex correlation between the develop-ment of human hand preference and brain lateralization. Handedness, used as a proxy for cerebral lateralization, is a topic of considerable importance because of its potential to reveal the mechanisms of the underlying pathophysiology of problems related to brain development or cognitive systems. Twin studies, which represent an important method of research in human genetics, would provide valuable suggestions to the studies on the relationship between lateralization and cognitive systems. Many studies have been performed using twin subjects; however, the results are inconsistent, partly because of sample size,...

  18. Final Diagnosis: In-stent restenosis

    Severe Eosinophilia After Second-generation; Drug-eluting Stent Implantation; B Jiro Ando; A Masafumi Watanabe; B Koichi Yanaba; B Masako Ikemura; D Masashi Fukayama; D Issei Komuro
    Background: In-stent restenosis (ISR) is still a recognized clinical problem in the era of drug-eluting stent (DES). Some pre-vious studies have suggested that circulating eosinophils play an important role in both restenosis and throm-bosis after DES implantation. However, the contribution of eosinophils to the pathogenesis of ISR has not yet been concisely clarified. Case Report: We present the case of an 83-year-old male Japanese patient with ISR exacerbated by drug-induced severe eo-sinophilia. He had previous histories of coronary stent implantations by DES and was referred to our hospital because of erythema with severe eosinophilia (maximum was 6500/μl [48 % of...

  19. doi:10.1155/2011/896360 Research Article APOE and FABP2 Polymorphisms and History of Myocardial Infarction, Stroke, Diabetes, and Gallbladder Disease

    Ikuko Kato; Susan L; Jill Barnholtz-sloan; Richard K. Severson
    Copyright © 2011 Ikuko Kato et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Dysfunctional lipid metabolism plays a central role in pathogenesis of major chronic diseases, and genetic factors are important determinants of individual lipid profiles. We analyzed the associations of two well-established functional polymorphisms (FABP2 A54T and APOE isoforms) with past and family histories of 1492 population samples. FABP2-T54 allele was associated with an increased risk of past history of myocardial infarction (odds ratio (OR)...

  20. Transient Neonatal Diabetes, ZFP57, and Hypomethylation ofMultiple Imprinted Loci A detailed follow-up

    Susanne E. Boonen; Deborah J. G. Mackay; Johanne M. D. Hahnemann; Louise Docherty Phd; Karen Grønskov Phd; Anna Lehmann Phd; Lise G. Larsen; Andreas P. Haemers; Yves Kockaerts Md; Olga Kordonouri Md; Frida Sundberg Md; I. Karen Temple
    OBJECTIVEdTransient neonatal diabetes mellitus 1 (TNDM1) is the most common cause of diabetes presenting at birth. Approximately 5 % of the cases are due to recessive ZFP57mutations, causing hypomethylation at the TNDM locus and other imprinted loci (HIL). This has conse-quences for patient care because it has impact on the phenotype and recurrence risk for families. We have determined the genotype, phenotype, and epigenotype of the first 10 families to alert health professionals to this newly described genetic subgroup of diabetes. RESEARCH DESIGN ANDMETHODSdThe 10 families (14 homozygous/compound heterozygous individuals) with ZFP57 mutations were ascertained through TNDM1 diagnostic testing. ZFP57...

Aviso de cookies: Usamos cookies propias y de terceros para mejorar nuestros servicios, para análisis estadístico y para mostrarle publicidad. Si continua navegando consideramos que acepta su uso en los términos establecidos en la Política de cookies.