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https://www.readbyqxmd.com/read/28103232/a-model-of-compound-heterozygous-loss-of-function-alleles-is-broadly-consistent-with-observations-from-complex-disease-gwas-datasets
#1
Jaleal S Sanjak, Anthony D Long, Kevin R Thornton
The genetic component of complex disease risk in humans remains largely unexplained. A corollary is that the allelic spectrum of genetic variants contributing to complex disease risk is unknown. Theoretical models that relate population genetic processes to the maintenance of genetic variation for quantitative traits may suggest profitable avenues for future experimental design. Here we use forward simulation to model a genomic region evolving under a balance between recurrent deleterious mutation and Gaussian stabilizing selection...
January 19, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28101894/sleep-quality-and-body-mass-index-a-co-twin-study
#2
Juan J Madrid-Valero, José M Martínez-Selva, Juan R Ordoñana
There is a consistent relationship between body mass index and sleep quality. However, the directionality and possible confounding factors of this relationship are unclear. Our aim is to confirm the association between sleep quality and body mass index, independent of possible genetic confounding, as well as to provide some indirect inferences about the directionality of this association. The co-twin study design was used to analyse the body mass index-sleep relationship in a sample of 2150 twins. We selected two parallel sub-samples of twins discordant for body mass index (n = 430 pairs), or discordant for sleep quality (n = 316 pairs)...
January 19, 2017: Journal of Sleep Research
https://www.readbyqxmd.com/read/28100569/multiple-pregnancy-in-a-primigravida-with-uncorrected-pentalogy-of-fallot
#3
Pamela Partana, Jarrod Kah Hwee Tan, Ju Le Tan, Lay Kok Tan
Pentalogy of Fallot is a cyanotic congenital heart disease that has guarded prognosis without surgical intervention in infancy. Women with uncorrected defects rarely survive into childbearing age and pregnancy in this group is associated with a high rate of perinatal loss. Physiological cardiovascular changes in pregnancy can lead to maternal haemodynamic instability with subsequent adverse cardiac sequelae with or without fetal decompensation. Optimum management and pregnancy outcomes in mother with uncorrected Pentalogy of Fallot and twin pregnancy have not been described in the literature...
January 18, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28100511/higher-dietary-flavonoid-intakes-are-associated-with-lower-objectively-measured-body-composition-in-women-evidence-from-discordant-monozygotic-twins
#4
Amy Jennings, Alex MacGregor, Tim Spector, Aedín Cassidy
BACKGROUND: Although dietary flavonoid intake has been associated with less weight gain, there are limited data on its impact on fat mass, and to our knowledge, the contribution of genetic factors to this relation has not previously been assessed. OBJECTIVE: We examined the associations between flavonoid intakes and fat mass. DESIGN: In a study of 2734 healthy, female twins aged 18-83 y from the TwinsUK registry, intakes of total flavonoids and 7 subclasses (flavanones, anthocyanins, flavan-3-ols, flavonols, flavones, polymers, and proanthocyanidins) were calculated with the use of food-frequency questionnaires...
January 18, 2017: American Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28100283/genetic-influences-on-hormonal-markers-of-chronic-hypothalamic-pituitary-adrenal-function-in-human-hair
#5
E M Tucker-Drob, A D Grotzinger, D A Briley, L E Engelhardt, F D Mann, M Patterson, C Kirschbaum, E K Adam, J A Church, J L Tackett, K P Harden
BACKGROUND: Cortisol is the primary output of the hypothalamic-pituitary-adrenal (HPA) axis and is central to the biological stress response, with wide-ranging effects on psychiatric health. Despite well-studied biological pathways of glucocorticoid function, little attention has been paid to the role of genetic variation. Conventional salivary, urinary and serum measures are strongly influenced by diurnal variation and transient reactivity. Recently developed technology can be used to measure cortisol accumulation over several months in hair, thus indexing chronic HPA function...
January 19, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/28099972/prurigo-pigmentosa-in-white-monozygotic-twins
#6
Carine Houriet, Delphine L Perruchoud, Helmut Beltraminelli, Luca Borradori
No abstract text is available yet for this article.
January 11, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/28099877/use-of-the-channel-fill-level-in-defining-a-design-space-for-twin-screw-wet-granulation
#7
L J Gorringe, G S Kee, M F Saleh, N H Fa, R G Elkes
Twin screw wet granulation is a key process in the continuous manufacture of oral solid dosage forms. Previous research has qualitatively suggested that the channel fill level influences the granules produced. In this paper a quantitative measure of the total volumetric fraction of the conveying element channels of the screw filled with powder (φ) was used. Experimental results are shown which demonstrate that very similar particle size distributions can be obtained at the same φ with the same material and screw configuration but radically different solids feed rates and screw speeds...
January 15, 2017: International Journal of Pharmaceutics
https://www.readbyqxmd.com/read/28099698/safety-of-vaginal-delivery-among-dichorionic-diamniotic-twins-over-10%C3%A2-years-in-a-uk-teaching-hospital
#8
Ewelina Rzyska, Bini Ajay, Edwin Chandraharan
OBJECTIVE: To determine whether vaginal delivery among dichorionic diamniotic twins remains a safe option following full implementation of the European Working Time Directive in the UK. METHODS: A retrospective study was conducted using data for women with dichorionic diamniotic twin pregnancies who attended a teaching hospital in London, UK, for delivery between January 4, 2000, and December 23, 2010. RESULTS: Among 892 women, 474 (53.1%) attempted vaginal delivery, 220 (46...
January 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/28098741/does-familial-aggregation-of-chronic-low-back-pain-impact-on-recovery-a-population-based-twin-study
#9
J R Zadro, D Shirley, J F Sanchez-Romera, J R Ordoñana, P H Ferreira
STUDY DESIGN: Longitudinal twin-cohort study. OBJECTIVE: To investigate the impact familial aggregation of chronic low back pain (LBP) has on the recovery from chronic LBP. SUMMARY OF BACKGROUND DATA: LBP is a worldwide problem, with pain and disability often becoming chronic. Genetics and familial behaviours could significantly impact the recovery from chronic LBP but have not been extensively investigated. METHODS: 624 Spanish twins from the Murcia Twin Registry reported experiencing chronic LBP within the past two years during the 2009/11 data collection wave and were followed up in 2013...
January 16, 2017: Spine
https://www.readbyqxmd.com/read/28097487/inter-individual-responses-of-maximal-oxygen-uptake-to-exercise-training-a-critical-review
#10
Philip J Williamson, Greg Atkinson, Alan M Batterham
It has recently been reported how to quantify inter-individual differences in the response to an exercise intervention using the standard deviation of the change scores, as well as how to appraise these differences for clinical relevance. In a parallel-group randomised controlled trial, the key trigger for further investigation into inter-individual responses is when the standard deviation of change in the intervention sample is substantially larger than the same standard deviation derived from a suitable comparator sample...
January 17, 2017: Sports Medicine
https://www.readbyqxmd.com/read/28097444/obstetric-outcome-of-vanishing-twins-syndrome-a-systematic-review-and-meta-analysis
#11
REVIEW
Ling Sun, Ling X Jiang, Heng Z Chen
PURPOSE: Due to the high number of multiple embryo transfers into the uterus performed in assisted reproductive technology treatment (ART), the incidences of twin pregnancy and of vanishing twin syndrome (VTS) are correspondingly high. A number of studies have described the obstetric outcomes of the remaining fetus produced after the other twin had vanished compared with a singleton at the start following ART, but the results are mixed and contradictory. We performed a systematic review of the existing studies to explore the actual obstetric outcome of VTS to allow physicians to adequately advise their patients...
January 17, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28097361/folic-acid-supplementation-for-the-prevention-of-neural-tube-defects-an-updated-evidence-report-and-systematic-review-for-the-us-preventive-services-task-force
#12
Meera Viswanathan, Katherine A Treiman, Julia Kish-Doto, Jennifer C Middleton, Emmanuel J L Coker-Schwimmer, Wanda K Nicholson
Importance: Neural tube defects are among the most common congenital anomalies in the United States. Periconceptional folic acid supplementation is a primary care-relevant preventive intervention. Objective: To review the evidence on folic acid supplementation for preventing neural tube defects to inform the US Preventive Services Task Force for an updated Recommendation Statement. Data Sources: MEDLINE, Cochrane Library, EMBASE, and trial registries through January 28, 2016, with ongoing surveillance through November 11, 2016; references; experts...
January 10, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28096880/genetic-polymorphism-of-1019c-g-rs6295-promoter-of-serotonin-1a-receptor-and-catechol-o-methyltransferase-in-panic-disorder
#13
Takashi Watanabe, Shin Ishiguro, Akiko Aoki, Mikito Ueda, Yuki Hayashi, Kazufumi Akiyama, Kazuko Kato, Kazutaka Shimoda
OBJECTIVE: Family and twin studies have suggested genetic liability for panic disorder (PD) and therefore we sought to determine the role of noradrenergic and serotonergic candidate genes for susceptibility for PD in a Japanese population. METHODS: In this age- and gender-matched case-control study involving 119 PD patients and 119 healthy controls, we examined the genotype distributions and allele frequencies of the serotonin transporter gene linked polymorphic region (5-HTTLPR), -1019C/G (rs6295) promoter polymorphism of the serotonin receptor 1A (5-HT1A), and catechol-O-methyltransferase (COMT) gene polymorphism (rs4680) and their association with PD...
January 2017: Psychiatry Investigation
https://www.readbyqxmd.com/read/28096099/high-saturated-fat-diet-increases-circulating-angiotensin-converting-enzyme-which-is-enhanced-by-the-rs4343-polymorphism-defining-persons-at-risk-of-nutrient-dependent-increases-of-blood-pressure
#14
Rita Schüler, Martin A Osterhoff, Turid Frahnow, Anne-Cathrin Seltmann, Andreas Busjahn, Stefan Kabisch, Li Xu, Alexander S Mosig, Joachim Spranger, Matthias Möhlig, Silke Hornemann, Michael Kruse, Andreas F H Pfeiffer
BACKGROUND: Angiotensin-converting enzyme (ACE) plays a major role in blood pressure regulation and cardiovascular homeostasis. Contrary to the assumption that ACE levels are stable, circulating ACE has been shown to be altered in obesity and weight loss. We sought to examine effects of a high-saturated-fat (HF) diet on ACE within the NUtriGenomic Analysis in Twins (NUGAT) study. METHODS AND RESULTS: Forty-six healthy and nonobese twin pairs initially consumed a carbohydrate-rich, low-fat diet over a period of 6 weeks to standardize for nutritional behavior prior to the study, followed by 6 weeks of HF diet under isocaloric conditions...
January 17, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28095889/evolution-of-gut-microbiota-composition-from-birth-to-24-weeks-in-the-infantmet-cohort
#15
Cian J Hill, Denise B Lynch, Kiera Murphy, Marynka Ulaszewska, Ian B Jeffery, Carol Anne O'Shea, Claire Watkins, Eugene Dempsey, Fulvio Mattivi, Kieran Touhy, R Paul Ross, C Anthony Ryan, Paul W O' Toole, Catherine Stanton
BACKGROUND: The gut is the most extensively studied niche of the human microbiome. The aim of this study was to characterise the initial gut microbiota development of a cohort of breastfed infants (n = 192) from 1 to 24 weeks of age. METHODS: V4-V5 region 16S rRNA amplicon Illumina sequencing and, in parallel, bacteriological culture. The metabolomic profile of infant urine at 4 weeks of age was also examined by LC-MS. RESULTS: Full-term (FT), spontaneous vaginally delivered (SVD) infants' microbiota remained stable at both phylum and genus levels during the 24-week period examined...
January 17, 2017: Microbiome
https://www.readbyqxmd.com/read/28095812/maternal-sepsis-complicating-arabin-cervical-pessary-placement-for-the-prevention-of-preterm-birth-a-case-report
#16
Begoña Martinez de Tejada
BACKGROUND: Preterm delivery is a major health problem and contributes to more than 50% of all neonatal and infant deaths. Recently, there has been a renewed interest in the use of cervical pessaries as a safe and effective intervention with few maternal side-effects for the prevention of preterm birth in both single and twin pregnancies. CASE PRESENTATION: A 43-year-old gravida 5, para 1 (previous preterm birth at 24 weeks) patient with an in vitro fertilization twin pregnancy had an Arabin cervical pessary placed at 19 weeks of pregnancy due to the presence of cervical funneling identified by ultrasound screening...
January 17, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/28095086/retinal-findings-and-a-novel-tinf2-mutation-in-revesz-syndrome-clinical-and-molecular-correlations-with-pediatric-retinal-vasculopathies
#17
Mrinali P Gupta, Katherine E Talcott, David Y Kim, Suneet Agarwal, Shizuo Mukai
BACKGROUND: Revesz syndrome is a telomere disorder in the dyskeratosis congenita (DKC) spectrum characterized by exudative retinopathy, bone marrow failure, neuroradiographic abnormalities, and integumentary findings. MATERIALS/METHODS: We report the ophthalmologic findings, documented by examinations under anesthesia with clinical photography and fluorescein angiography, as well as the systemic manifestations and genetic and molecular testing, in identical twins with Revesz syndrome, and compare and contrast these features to those of other pediatric retinal vasculopathies...
January 17, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28095001/callousness-and-affective-face-processing-in-adults-behavioral-and-brain-potential-indicators
#18
Sarah J Brislin, James R Yancey, Emily R Perkins, Isabella M Palumbo, Laura E Drislane, Randall T Salekin, Kostas A Fanti, Eva R Kimonis, Paul J Frick, R James R Blair, Christopher J Patrick
The investigation of callous-unemotional (CU) traits has been central to contemporary research on child behavior problems, and served as the impetus for inclusion of a specifier for conduct disorder in the latest edition of the official psychiatric diagnostic system. Here, we report results from 2 studies that evaluated the construct validity of callousness as assessed in adults, by testing for affiliated deficits in behavioral and neural processing of fearful faces, as have been shown in youthful samples. We hypothesized that scores on an established measure of callousness would predict reduced recognition accuracy and diminished electocortical reactivity for fearful faces in adult participants...
January 16, 2017: Personality Disorders
https://www.readbyqxmd.com/read/28094953/structure-sensitive-co2-electroreduction-to-hydrocarbons-on-ultrathin-five-fold-twinned-copper-nanowires
#19
Yifan Li, Fan Cui, Michael B Ross, Dohyung Kim, Yuchun Sun, Peidong Yang
Copper is uniquely active for the electrocatalytic reduction of carbon dioxide (CO2) to products beyond carbon monoxide, such as methane (CH4) and ethylene (C2H4). Therefore, understanding selectivity trends for CO2 electrocatalysis on copper surfaces is critical for developing more efficient catalysts for CO2 conversion to higher order products. Herein, we investigate the electrocatalytic activity of ultrathin (diameter ~20 nm) five-fold twinned copper nanowires (Cu NWs) for CO2 reduction. These Cu NW catalysts were found to exhibit high CH4 selectivity over other carbon products, reaching 55% Faradaic efficiency (F...
January 17, 2017: Nano Letters
https://www.readbyqxmd.com/read/28094432/maltreatment-associated-neurodevelopmental-disorders-a-co-twin-control-analysis
#20
Lisa Dinkler, Sebastian Lundström, Ruchika Gajwani, Paul Lichtenstein, Christopher Gillberg, Helen Minnis
BACKGROUND: Childhood maltreatment (CM) is strongly associated with psychiatric disorders in childhood and adulthood. Previous findings suggest that the association between CM and psychiatric disorders is partly causal and partly due to familial confounding, but few studies have investigated the mechanisms behind the association between CM and neurodevelopmental disorders (NDDs). Our objective was to determine whether maltreated children have an elevated number of NDDs and whether CM is a risk factor for an increased NDD 'load' and increased NDD symptoms when controlling for familial effects...
January 17, 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
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