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https://www.readbyqxmd.com/read/28727976/monozygotic-twins-discordant-for-trisomy-13-a-case-of-trisomic-rescue-supporting-the-continued-need-for-first-trimester-ultrasound
#1
Patrick McFadden, Sarah Smithson, Robert Massaro, Jialing Huang, Gail T Prado, Wendy Shertz
Monozygotic twins with discordant karyotypes for trisomy 13 are rare. We report a case of a spontaneously conceived pregnancy who presented with first-trimester ultrasound finding of umbilical cord cyst and increased nuchal translucency in Twin A and no abnormalities in Twin B. Amniocentesis revealed 47,XY,+13 karyotype in Twin A and 46,XY karyotype in Twin B. Selective fetal reduction was performed for Twin A. Twin B was delivered at 32 weeks gestation with normal phenotype. Peripheral blood karyotype revealed 15% mosaicism for trisomy 13 and skin fibroblast revealed 46,XY karyotype...
July 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28727835/conflicting-relationship-between-age-dependent-disorders-valvular-heart-disease-and-coronary-artery-disease-by-covariance-structure-analysis-possible-contribution-of-natriuretic-peptide
#2
Risa Fukumoto, Makoto Kawai, Kosuke Minai, Kazuo Ogawa, Jun Yoshida, Yasunori Inoue, Satoshi Morimoto, Toshikazu Tanaka, Tomohisa Nagoshi, Takayuki Ogawa, Michihiro Yoshimura
BACKGROUND: It is conceivable that contemporary valvular heart disease (VHD) is affected largely by an age-dependent atherosclerotic process, which is similar to that observed in coronary artery disease (CAD). However, a comorbid condition of VHD and CAD has not been precisely examined. The first objective of this study was to examine a possible comorbid condition. Provided that there is no comorbidity, the second objective was to search for the possible reasons by using conventional risk factors and plasma B-type natriuretic peptide (BNP) because BNP has a potentiality to suppress atherosclerotic development...
2017: PloS One
https://www.readbyqxmd.com/read/28727687/hippocampus-dependent-memory-and-allele-specific-gene-expression-in-adult-offspring-of-alcohol-consuming-dams-after-neonatal-treatment-with-thyroxin-or-metformin
#3
E Tunc-Ozcan, S L Wert, P H Lim, A Ferreira, E E Redei
Fetal alcohol spectrum disorder (FASD), the result of fetal alcohol exposure (FAE), affects 2-11% of children worldwide, with no effective treatments. Hippocampus-based learning and memory deficits are key symptoms of FASD. Our previous studies show hypothyroxinemia and hyperglycemia of the alcohol-consuming pregnant rat, which likely affects fetal neurodevelopment. We administered vehicle, thyroxine (T4) or metformin to neonatal rats post FAE and rats were tested in the hippocampus-dependent contextual fear-conditioning paradigm in adulthood...
July 20, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28727381/nephrometry-scores-and-perioperative-outcomes-following-robotic-partial-nephrectomy
#4
Renato B Corradi, Emily A Vertosick, Daniel P Nguyen, Antoni Vilaseca, Daniel D Sjoberg, Nicole Benfante, Lucas N Nogueira, Massimiliano Spaliviero, Karim A Touijer, Paul Russo, Jonathan A Coleman
OBJECTIVES: Based on imaging features, nephrometry scoring systems have been conceived to create a standardized and reproducible way to characterize renal tumor anatomy. However, less is known about which of these individual measures are important with regard to clinically relevant perioperative outcomes such as ischemia time (IT), estimated blood loss (EBL), length of hospital stay (LOS), and change in estimated glomerular filtration rate (eGFR) after robotic partial nephrectomy (PN)...
July 20, 2017: International Braz J Urol: Official Journal of the Brazilian Society of Urology
https://www.readbyqxmd.com/read/28726552/on-the-sources-of-forgetting-in-working-memory-the-test-of-competing-hypotheses
#5
Pierre Barrouillet, Kim Uittenhove, Annalisa Lucidi, Naomi Langerock
Whether forgetting from working memory (WM) is only due to interference or is also caused by temporal decay is still a matter of debate. In the present study, this question was examined using complex span tasks in which each memory item was followed by a series of processing episodes, the duration and number of which were varied. It is known that recall performance in these tasks depends on the cognitive load (CL) of concurrent processing conceived as the ratio between processing time and free time, higher CL resulting in lower spans...
July 20, 2017: Quarterly Journal of Experimental Psychology: QJEP
https://www.readbyqxmd.com/read/28725955/biologics-in-juvenile-idiopathic-arthritis-a-narrative-review
#6
REVIEW
Federica Vanoni, Francesca Minoia, Clara Malattia
In the past years, pediatric rheumatology has seen a revolution in the treatments for rheumatic diseases, particularly juvenile idiopathic arthritis. Even if nonsteroidal anti-inflammatory drugs (NSAID), intra-articular corticosteroids (IAC) injections, and methotrexate remain the mainstay of the treatment for JIA patients, in aggressive disease, these treatments may be not sufficient to reach disease remission and to prevent long-term disability. Comprehension of immunological mechanisms involved in the pathogenesis of the diseases allowed to conceive new drugs targeting specific steps of the immune response...
July 20, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28725009/the-salivary-microbiome-as-an-indicator-of-carcinogenesis-in-patients-with-oropharyngeal-squamous-cell-carcinoma-a-pilot-study
#7
Axel Wolf, Christine Moissl-Eichinger, Alexandra Perras, Kaisa Koskinen, Peter V Tomazic, Dietmar Thurnher
This study aimed to undertake an initial, comparative analysis of the oral salivary microbiome of patients with oral and oropharyngeal squamous cell carcinoma versus healthy controls. This project, conceived as a pilot study, included 11 patients (1 female, 10 male, mean age 61.6 yrs., SD = 8.2 yrs.) and 11 healthy controls (1 female, 10 male, mean age 46.7 yrs., SD = 15.1 yrs.). Samples of saliva were analysed by high-throughput sequencing of the 16S rRNA gene using the MiSeq platform. Sequence data revealed microbial changes that may mirror disease progression and reflect clinical preconditions such as age, alcohol consumption, tumour size, lymph node status, smoking habit, and tumour HPV-positivity...
July 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28724902/human-pursuance-of-equality-hinges-on-mental-processes-of-projecting-oneself-into-the-perspectives-of-others-and-into-future-situations
#8
Hirofumi Takesue, Carlos Makoto Miyauchi, Shiro Sakaiya, Hongwei Fan, Tetsuya Matsuda, Junko Kato
In the pursuance of equality, behavioural scientists disagree about distinct motivators, that is, consideration of others and prospective calculation for oneself. However, accumulating data suggest that these motivators may share a common process in the brain whereby perspectives and events that did not arise in the immediate environment are conceived. To examine this, we devised a game imitating a real decision-making situation regarding redistribution among income classes in a welfare state. The neural correlates of redistributive decisions were examined under contrasting conditions, with and without uncertainty, which affects support for equality in society...
July 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28724477/oliver-sacks-our-correspondence-about-twins-twin-research-vanishing-twins-syndrome-discordant-sex-in-mz-twins-pregnancy-outcomes-in-ivf-and-icsi-conceived-twins-print-and-media-superfetated-twins-twins-discordant-for-smoking-twins-in-fashion-yale-university
#9
Nancy L Segal
The late neurologist and author, Oliver Sacks, published an insightful 1986 review of Marjorie Wallace's book, The Silent Twins, in the New York Times. Taking exception to his assertion about Sir Francis Galton, I wrote a letter to the Times' editor. The letter was unpublished, but it brought a wonderful response from Sacks himself that is reproduced and examined. Next, brief reviews of twin research concerning the vanishing twin syndrome (VTS), discordant sex in a monozygotic (MZ) twin pair, and multiple pregnancy outcomes from assisted reproductive technology (ART) are presented...
August 2017: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
https://www.readbyqxmd.com/read/28723895/visible-light-driven-methane-formation-from-co2-with-a-molecular-iron-catalyst
#10
Heng Rao, Luciana C Schmidt, Julien Bonin, Marc Robert
Converting CO2 into fuel or chemical feedstock compounds could in principle reduce fossil fuel consumption and climate-changing CO2 emissions. One strategy aims for electrochemical conversions powered by electricity from renewable sources, but photochemical approaches driven by sunlight are also conceivable. A considerable challenge in both approaches is the development of efficient and selective catalysts, ideally based on cheap and Earth-abundant elements rather than expensive precious metals. Of the molecular photo- and electrocatalysts reported, only a few catalysts are stable and selective for CO2 reduction; moreover, these catalysts produce primarily CO or HCOOH, and catalysts capable of generating even low to moderate yields of highly reduced hydrocarbons remain rare...
July 17, 2017: Nature
https://www.readbyqxmd.com/read/28722355/selected-birth-defects-among-males-following-the-united-states-terrorist-attacks-of-11-september-2001
#11
Parvati Singh, Wei Yang, Gary M Shaw, Ralph Catalano, Tim A Bruckner
BACKGROUND: The terrorist attacks of 11 September 2001 (hereafter referred to as 9/11) preceded an increase in male fetal deaths and reduced male live births among exposed gestational cohorts across several geographic locations in the United States, including California. We analyze whether the extreme stressor of 9/11 may have selected against frail males in utero by testing if the prevalence of male births with selected defects in California fell among cohorts exposed to the stressor during gestation...
July 19, 2017: Birth defects research
https://www.readbyqxmd.com/read/28718082/low-first-trimester-papp-a-in-ivf-fresh-and-frozen-thawed-pregnancies-likely-due-to-a-biological-cause
#12
Lauren P Hunt, A M McInerney-Leo, S Sinnott, B Sutton, R Cincotta, G Duncombe, J Chua, M Peterson
PURPOSE: The purpose of this study is to confirm a difference in the first-trimester screen maternal biochemistry and false-positive rates (FPR) between pregnancies conceived spontaneously and those conceived via assisted reproductive technologies (ART). METHODS: Retrospective analysis of the complete population of women (17,889 pregnancies) who had undergone first-trimester screening between January 2004 and September 2009 at three private ultrasound clinics in Queensland, Australia was used in the study...
July 17, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28717873/orchestration-of-h3k27-methylation-mechanisms-and-therapeutic-implication
#13
REVIEW
Mei-Ren Pan, Ming-Chuan Hsu, Li-Tzong Chen, Wen-Chun Hung
Histone proteins constitute the core component of the nucleosome, the basic unit of chromatin. Chemical modifications of histone proteins affect their interaction with genomic DNA, the accessibility of recognized proteins, and the recruitment of enzymatic complexes to activate or diminish specific transcriptional programs to modulate cellular response to extracellular stimuli or insults. Methylation of histone proteins was demonstrated 50 years ago; however, the biological significance of each methylated residue and the integration between these histone markers are still under intensive investigation...
July 17, 2017: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/28716726/early-life-risperidone-enhances-locomotor-responses-to-amphetamine-during-adulthood
#14
Bobbie Lee Stubbeman, Clifford J Brown, Justin R Yates, Mark E Bardgett
Antipsychotic drug prescriptions for pediatric populations have increased over the past 20 years, particularly the use of atypical antipsychotic drugs such as risperidone. Most antipsychotic drugs target forebrain dopamine systems, and early-life antipsychotic drug exposure could conceivably reset forebrain neurotransmitter function in a permanent manner that persists into adulthood. This study determined whether chronic risperidone administration during development modified locomotor responses to the dopamine/norepinephrine agonist, D-amphetamine, in adult rats...
July 14, 2017: European Journal of Pharmacology
https://www.readbyqxmd.com/read/28715618/measurement-of-net-formation-in-vitro-and-in-vivo-by-flow-cytometry
#15
Sakiko Masuda, Sakika Shimizu, Junji Matsuo, Yuka Nishibata, Yoshihiro Kusunoki, Fumihiko Hattanda, Haruki Shida, Daigo Nakazawa, Utano Tomaru, Tatsuya Atsumi, Akihiro Ishizu
Neutrophil extracellular traps (NETs) are extracellular chromatin fibers adorned with antimicrobial proteins, such as myeloperoxidase (MPO), which are extruded from activated neutrophils. NETosis is the metamorphosis of neutrophils with NET formation that follows decondensation of DNA and rupture of the plasma membrane. Although NETs play important roles in innate immunity, excessive formation of NETs can be harmful to the hosts. Until now, various methods for evaluation of NETs have been reported. Although each has a virtue, the gold standard has not been established...
July 17, 2017: Cytometry. Part A: the Journal of the International Society for Analytical Cytology
https://www.readbyqxmd.com/read/28715482/impact-of-maternal-body-mass-index-and-gestational-weight-gain-on-neonatal-outcomes-among-healthy-middle-eastern-females
#16
Tatiana Papazian, Georges Abi Tayeh, Darine Sibai, Hala Hout, Imad Melki, Lydia Rabbaa Khabbaz
BACKGROUND: Studies on the relative impact of body mass index in women in childbearing age and gestational weight gain on neonatal outcomes are scarce in the Middle East. OBJECTIVES: The primary objective of this research was to assess the impact of maternal body mass index (BMI) and gestational weight gain (GWG) on neonatal outcomes. The effect of maternal age and folic acid supplementation before and during pregnancy was also examined. SUBJECTS AND METHODS: This is a retrospective cross sectional observational study of 1000 full term deliveries of women enrolled thru the National Collaborative Perinatal Neonatal Network, in Lebanon...
2017: PloS One
https://www.readbyqxmd.com/read/28714555/evidence-that-eye-movement-profiles-do-not-explain-slow-binocular-rivalry-rate-in-bipolar-disorder-support-for-a-perceptual-endophenotype
#17
Phillip Cf Law, Caroline T Gurvich, Trung T Ngo, Steven M Miller
OBJECTIVES: Presenting conflicting images simultaneously, one to each eye, produces perceptual alternations known as binocular rivalry (BR). Slow BR rate has been proposed as an endophenotype for bipolar disorder (BD) for use in large-scale genome-wide association studies. However, the trait could conceivably reflect eye movement (EM) dysfunction in BD rather than anomalous perceptual processing per se. To address this question, we examined the relationship between EM profiles and BR rate for various stimulus types in BD and healthy subjects...
July 17, 2017: Bipolar Disorders
https://www.readbyqxmd.com/read/28711072/chronic-kidney-disease-and-pregnancy
#18
Michelle A Hladunewich
Women with chronic kidney disease (CKD) are at risk for adverse pregnancy-associated outcomes, including progression of their underlying renal dysfunction, a flare of their kidney disease, and adverse pregnancy complications such as preeclampsia and preterm delivery. Earlier-stage CKD, as a rule, is a safer time to have a pregnancy, but even women with end-stage kidney disease have attempted pregnancy in recent years. As such, nephrologists need to be comfortable with pregnancy preparation and management at all stages of CKD...
July 2017: Seminars in Nephrology
https://www.readbyqxmd.com/read/28710772/outcomes-of-conception-subsequent-to-methotrexate-treatment-for-an-unruptured-ectopic-pregnancy
#19
Ran Svirsky, Ido Ben-Ami, Matitiahu Berkovitch, Reuvit Halperin, Uri Rozovski
OBJECTIVE: To assess the risk of adverse pregnancy outcomes in subsequent pregnancies among women treated with methotrexate for ectopic pregnancy. METHODS: In a retrospective single-center study, data were assessed for women treated with methotrexate for ectopic pregnancy at Asaf Harofe Medical Center, Zerifin, Israel, between May 2004 and May 2014. RESULTS: Overall, 226 women were treated with methotrexate for ectopic pregnancy and subsequently conceived...
July 15, 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/28710447/cryo-em-reconstruction-of-the-cafeteria-roenbergensis-virus-capsid-suggests-novel-assembly-pathway-for-giant-viruses
#20
Chuan Xiao, Matthias G Fischer, Duer M Bolotaulo, Nancy Ulloa-Rondeau, Gustavo A Avila, Curtis A Suttle
Whereas the protein composition and overall shape of several giant virus capsids have been described, the mechanism by which these large capsids assemble remains enigmatic. Here, we present a reconstruction of the capsid of Cafeteria roenbergensis virus (CroV), one of the largest viruses analyzed by cryo-electron microscopy (cryo-EM) to date. The CroV capsid has a diameter of 3,000 Å and a Triangulation number of 499. Unlike related mimiviruses, the CroV capsid is not decorated with glycosylated surface fibers, but features 30 Å-long surface protrusions that are formed by loops of the major capsid protein...
July 14, 2017: Scientific Reports
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