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https://www.readbyqxmd.com/read/28528201/x-linked-carriers-of-chronic-granulomatous-disease-illness-lyonization-and-stability
#1
Beatriz E Marciano, Christa S Zerbe, E Liana Falcone, Li Ding, Suk See DeRavin, Janine Daub, Samantha Kreuzburg, Lynne Yockey, Sally Hunsberger, Ladan Foruraghi, Lisa A Barnhart, Kabir Matharu, Victoria Anderson, Dirk N Darnell, Cathleen Frein, Danielle L Fink, Karen P Lau, Debra A Long Priel, John I Gallin, Harry L Malech, Gulbu Uzel, Alexandra F Freeman, Douglas B Kuhns, Sergio D Rosenzweig, Steven M Holland
BACKGROUND: Chronic granulomatous disease (CGD) is characterized by recurrent life-threatening bacterial and fungal infections and aberrant inflammation. Mutations in CYBB cause X-linked CGD and account for 65%-70% of cases in western countries. OBJECTIVE: To understand the clinical manifestations associated with the X-linked CGD carrier state. METHODS: We undertook a comprehensive retrospective study of 162 affected females. We examined dihydrorhodamine oxidation (DHR) data for percent (%) X chromosome inactivation...
May 17, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28527483/single-fetal-death-in-monochorionic-twin-pregnancy-co-twin-prognosis-and-neonatal-outcome
#2
Emídio Vale-Fernandes, Joana Dias, Belandina Gil, Alexandra Cadilhe
The incidence of single fetal death in twin pregnancy varies from 0.5% - 6.8%, leaving the surviving fetus with increased morbi-mortality. The prognosis is worse in monochorionic pregnancies. In addressing these cases it should be noted referral to tertiary center with differentiated perinatal support, induction of fetal lung maturation and termination of pregnancy if there's loss of fetal well-being or possibility of maternal complications and suspected neurological sequelae in the surviving fetus. The risk of iatrogenic prematurity should always be weighed with the possible consequences arising from the fetus staying in a hostile uterine environment...
February 27, 2017: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/28526941/urinary-cadmium-and-cotinine-levels-and-hair-mercury-levels-in-czech-children-and-their-mothers-within-the-framework-of-the-cophes-democophes-projects
#3
Kateřina Forysová, Anna Pinkr-Grafnetterová, Marek Malý, Andrea Krsková, Jaroslav Mráz, Lucie Kašparová, Mája Čejchanová, Lenka Sochorová, Sylva Rödlová, Milena Černá
The COPHES/DEMOCOPHES twin project was performed in 2011-2012 in 17 European countries to harmonize all steps of the human biomonitoring survey. Urinary cadmium, cotinine, phthalate metabolites, and hair mercury were measured in children (N = 120, 6-11 years) and their mothers of reproductive age, living in urban or rural areas. Cadmium in mothers' and children's urine was detected at a geometric mean (GM) concentration 0.227 and 0.109 μg/L, respectively; 95th percentile (P95) was 0.655 and 0.280 μg/L in mothers and children, respectively...
May 19, 2017: Archives of Environmental Contamination and Toxicology
https://www.readbyqxmd.com/read/28524787/cerebral-hemorrhage-in-monozygotic-twins-with-hereditary-hemorrhagic-telangiectasia-case-report-and-hemorrhagic-risk-evaluation
#4
Abbas Rattani, Michael C Dewan, Vickie Hannig, Robert P Naftel, John C Wellons, Lori C Jordan
The authors present a case of monozygotic twins with hereditary hemorrhagic telangiectasia (HHT) who experienced cerebral arteriovenous malformation (AVM) hemorrhage at a very young age. The clinical variables influencing HHT-related AVM rupture are discussed, and questions surrounding the timing of screening and intervention are explored. This is only the second known case of monozygotic HHT twins published in the medical literature, and the youngest pair of first-degree relatives to experience AVM-related cerebral hemorrhage...
May 19, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28524230/the-etiology-of-autistic-traits-in-preschoolers-a-population-based-twin-study
#5
Eveline L de Zeeuw, Catharina E M van Beijsterveldt, Rosa A Hoekstra, Meike Bartels, Dorret I Boomsma
BACKGROUND: Autism Spectrum Disorders (ASD) are highly heritable, but the exact etiological mechanisms underlying the condition are still unclear. METHODS: Using a multiple rater twin design in a large sample of general population preschool twins, this study aimed to (a) estimate the contribution of genetic and environmental factors to autistic traits, controlling for the possible effects of rater bias, (b) to explore possible sex differences in etiology and (c) to investigate the discordance in autistic traits in monozygotic and same-sex dizygotic twin pairs...
May 19, 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28523554/alzheimer-s-disease-and-histone-code-alterations
#6
Pritika Narayan, Mike Dragunow
Substantial progress has been made in identifying Alzheimer's disease (AD) risk-associated variants using genome-wide association studies (GWAS). The majority of these risk variants reside in noncoding regions of the genome making their functional evaluation difficult; however, they also infer the presence of unconventional regulatory regions that may reside at these locations. We know from these studies that rare familial cases of AD account for less than 5% of all AD cases and autosomal dominant mutations in APP, PSEN1 and PSEN2 account for less than 10% of the genetic basis of these familial cases [1]...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28523550/histone-posttranslational-modifications-in-schizophrenia
#7
Elizabeth A Thomas
Schizophrenia is a complex neuropsychiatric disorder with high heritability; however, family and twin studies have indicated that environmental factors also play important roles in the etiology of disease. Environmental triggers exert their influence on behavior via epigenetic mechanisms. Epigenetic modifications, such as histone acetylation and methylation, as well as DNA methylation, can induce lasting changes in gene expression and have therefore been implicated in promoting the behavioral and neuronal behaviors that characterize this disorder...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28523545/anxiety-and-epigenetics
#8
Andrew A Bartlett, Rumani Singh, Richard G Hunter
Anxiety disorders are highly prevalent psychiatric disorders often comorbid with depression and substance abuse. Twin studies have shown that anxiety disorders are moderately heritable. Yet, genome-wide association studies (GWASs) have failed to identify gene(s) significantly associated with diagnosis suggesting a strong role for environmental factors and the epigenome. A number of anxiety disorder subtypes are considered "stress related." A large focus of research has been on the epigenetic and anxiety-like behavioral consequences of stress...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28523227/parental-brain-derived-neurotrophic-factor-genotype-child-prosociality-and-their-interaction-as-predictors-of-parents-warmth
#9
Reut Avinun, Ariel Knafo-Noam
BACKGROUND: Parental warmth has been associated with various child behaviors, from effortful control to callous-unemotional traits. Factors that have been shown to affect parental warmth include heritability and child behavior. However, there is limited knowledge about which specific genes are involved, how they interact with child behavior, how they affect differential parenting, and how they affect fathers. We examined what affects paternal and maternal warmth by focusing on the child's prosocial behavior and parents' genotype, specifically a Valine to Methionine substitution at codon 66 in the brain-derived neurotrophic factor (BDNF) gene...
May 2017: Brain and Behavior
https://www.readbyqxmd.com/read/28521627/disseminated-bacillus-calmette-gu%C3%A3-rin-osteomyelitis-in-twin-sisters-related-to-stat1-gene-deficiency
#10
Sabah Boudjemaa, Linda Dainese, Sébastien Héritier, Caroline Masserot, Samia Hachemane, Jean-Laurent Casanova, Aurore Coulomb, Jacinta Bustamante
Mendelian susceptibility to mycobacterial disease is a rare syndrome characterized by severe clinical infections usually caused by weakly virulent mycobacterial species such as Bacillus Calmette-Guérin vaccines and environmental nontuberculous mycobacteria or more virulent mycobacteria as mycobacterium tuberculosis. Since 1996, 9 genes including 7 autosomal ( STAT1, IFNGR1, IFNGR2, IL12B, IL12RB1, ISG15, and IRF8) and 2 X-linked genes ( NEMO and CYBB) have been identified. Allelic heterogeneity leaded to recognize about 18 genetic diseases with variable clinical phenotypes, but sharing a same physiological mechanism represented by a defect in human IL-12-dependant-INF-γ-mediated immunity...
June 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28521251/the-protective-effect-of-character-maturity-in-child-aggressive-antisocial-behavior
#11
Nóra Kerekes, Örjan Falk, Sven Brändström, Henrik Anckarsäter, Maria Råstam, Björn Hofvander
BACKGROUND: Childhood aggressive antisocial behavior (CD) is one of the strongest predictors of mental health problems and criminal behavior in adulthood. The aims of this study were to describe personality profiles in children with CD, and to determine the strength of association between defined neurodevelopmental symptoms, dimensions of character maturity and CD. METHODS: A sample of 1886 children with a close to equal distribution of age (9 or 12) and gender, enriched for neurodevelopmental and psychiatric problems were selected from the nationwide Child and Adolescent Twin Study in Sweden...
April 29, 2017: Comprehensive Psychiatry
https://www.readbyqxmd.com/read/28517010/suppression-of-near-band-edge-emission-in-specially-engineered-zno-twin-nanorods
#12
Avanendra Singh, Kartik Senapati, Biswarup Satpati, Pratap K Sahoo
We report the synthesis of a unique zinc oxide nanorod structure in which an amorphous ZnO layer is sandwiched between two identical crystalline segments of ZnO. A simple hydrothermal reaction method was used for this purpose, which allowed us to tune the amorphous and crystalline sections of the nanorods via reaction temperature. A systematic study of the morphology and dimensions of the nanorods grown under various conditions was performed using a combination of scanning and transmission electron microscopy...
May 18, 2017: Physical Chemistry Chemical Physics: PCCP
https://www.readbyqxmd.com/read/28515822/primary-percutaneous-coronary-intervention-angioplasty-of-occluded-twin-circumflex-coronary-artery-in-a-patient-of-acute-inferior-wall-myocardial-infarction-a-rare-anomaly
#13
Santosh Kumar Sinha, Vikas Mishra, Nasar Abdali, Mukesh Jitendra Jha, Mahmadula Razi, Shravan Singh, Lokendra Rekwal, Vikas Chaturvedi, Chandra Mohan Varma, Ramesh Thakur
Anomalies of the coronary arteries are reported in 1-2% of patients among diagnostic angiogram. Dual origin of a circumflex from both sinuses is extremely rare among them. We report a case of a patient who underwent primary percutaneous coronary intervention for acute inferior wall myocardial infarction where left coronary injection demonstrated normal obtuse marginal and right coronary injection demonstrated normal right coronary artery (RCA). On further probing, an anomalous left circumflex (LCx) artery was seen arising from RCA ostium which was subsequently cannulated and revascularized by deployment of 2...
April 2017: Cardiology Research
https://www.readbyqxmd.com/read/28515319/the-h-region-of-twin-arginine-signal-peptides-supports-productive-binding-of-bacterial-tat-precursor-proteins-to-the-tatbc-receptor-complex
#14
Agnes Ulfig, Julia Fröbel, Frank Lausberg, Anne-Sophie Blümmel, Anna Katharina Heide, Matthias Müller, Roland Freudl
The twin arginine translocation (Tat) pathway transports folded proteins across bacterial membranes. Tat precursor proteins possess a conserved twin-arginine (RR) motif in their signal peptides that is involved in their binding to the Tat translocase, but some facets of this interaction remain unclear. Here, we investigated the role of the hydrophobic (h-) region of the Escherichia coli TMAO reductase (TorA) signal peptide in TatBC receptor binding in vivo and in vitro. We show that besides the RR motif, a minimal functional h-region in the signal peptide is required for Tat-dependent export in E...
May 17, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28514884/the-association-of-placenta-previa-and-assisted-reproductive-techniques-a-meta-analysis
#15
Manoochehr Karami, Ensiyeh Jenabi, Bita Fereidooni
BACKGROUND: Several epidemiological studies have determined that assisted reproductive techniques (ART) can increase the risk of placenta previa. To date, only a meta-analysis has been performed for assessing the relationship between placenta previa and ART. This meta-analysis was conducted to estimate the association between placenta previa and ART in singleton and twin pregnancies. METHODS: A literature search was performed in major databases PubMed, Web of Science, and Scopus from the earliest possible year to April 2017...
May 17, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28514135/three-dimensional-hetero-integration-of-faceted-gan-on-si-pillars-for-efficient-light-energy-conversion-devices
#16
Dong Rip Kim, Chi Hwan Lee, In Sun Cho, Hanmin Jang, Min Soo Jeon, Xiaolin Zheng
An important pathway for cost-effective light energy conversion devices, such as solar cells and light emitting diodes, is to integrate III-V (e.g., GaN) materials on Si substrates. Such integration first necessitates growth of high crystalline III-V materials on Si, which has been the focus of many studies. However, the integration also requires that the final III-V/Si structure has a high light energy conversion efficiency. To accomplish those twin goals, we use single-crystalline micro-sized Si pillars as a seed layer to first grow faceted Si structures, which are then used for the hetero-epitaxial growth of faceted GaN films...
May 17, 2017: ACS Nano
https://www.readbyqxmd.com/read/28512570/the-structure-of-denisovite-a-fibrous-nanocrystalline-polytypic-disordered-very-complex-silicate-studied-by-a-synergistic-multi-disciplinary-approach-employing-methods-of-electron-crystallography-and-x-ray-powder-diffraction
#17
Ira V Rozhdestvenskaya, Enrico Mugnaioli, Marco Schowalter, Martin U Schmidt, Michael Czank, Wulf Depmeier, Andreas Rosenauer
Denisovite is a rare mineral occurring as aggregates of fibres typically 200-500 nm diameter. It was confirmed as a new mineral in 1984, but important facts about its chemical formula, lattice parameters, symmetry and structure have remained incompletely known since then. Recently obtained results from studies using microprobe analysis, X-ray powder diffraction (XRPD), electron crystallography, modelling and Rietveld refinement will be reported. The electron crystallography methods include transmission electron microscopy (TEM), selected-area electron diffraction (SAED), high-angle annular dark-field imaging (HAADF), high-resolution transmission electron microscopy (HRTEM), precession electron diffraction (PED) and electron diffraction tomography (EDT)...
May 1, 2017: IUCrJ
https://www.readbyqxmd.com/read/28512311/dramatic-improvement-of-strain-hardening-and-ductility-to-95-in-highly-deformable-high-strength-duplex-lightweight-steels
#18
Seok Su Sohn, Hyejin Song, Jai-Hyun Kwak, Sunghak Lee
Ferrite + austenite duplex lightweight steels have been actively developed by adding low-density Al for overcoming a limitation of stiffness deterioration by a traditional approach to obtain a weight reduction. Multiple-stage deformation mechanism in lightweight steels, i.e., simultaneous formation of deformation-induced martensite and deformation twin and additional plasticity by twinning, has been nominated as an attractive strategy, but shows a steady flow behavior with early plastic instability. Here, we present a newly designed Fe-0...
May 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28512186/building-ultra-high-density-linkage-maps-based-on-efficient-filtering-of-trustable-markers
#19
Yefim I Ronin, David I Mester, Dina G Minkov, Eduard Akhunov, Abracham B Korol
The study is focused on addressing the problem of building genetic maps in the presence of ~10(3)-10(4) of markers per chromosome. We consider a spectrum of situations with intrachromosomal heterogeneity of recombination rate, different level of genotyping errors, and missing data. In the ideal scenario of the absence of errors and missing data, the majority of markers should appear as groups of co-segregating markers ("twins") representing no challenge for map construction. The central aspect of the proposed approach is to take into account the structure of the marker space, where each twin group (TG) and singleton markers are represented as points of this space...
May 16, 2017: Genetics
https://www.readbyqxmd.com/read/28511734/sleeping-with-one-eye-open-loneliness-and-sleep-quality-in-young-adults
#20
T Matthews, A Danese, A M Gregory, A Caspi, T E Moffitt, L Arseneault
BACKGROUND: Feelings of loneliness are common among young adults, and are hypothesized to impair the quality of sleep. In the present study, we tested associations between loneliness and sleep quality in a nationally representative sample of young adults. Further, based on the hypothesis that sleep problems in lonely individuals are driven by increased vigilance for threat, we tested whether past exposure to violence exacerbated this association. METHOD: Data were drawn from the Environmental Risk (E-Risk) Longitudinal Twin Study, a birth cohort of 2232 twins born in England and Wales in 1994 and 1995...
May 17, 2017: Psychological Medicine
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