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https://www.readbyqxmd.com/read/28543993/genetic-background-of-hirschsprung-disease-a-bridge-between-basic-science-and-clinical-application
#1
Afsane Bahrami, Marjan Joodi, Mehrdad Ahmadi, Mina Maftouh, Seyed Mahdi Hassanian, Gordon A Ferns, Amir Avan
Hirschsprung's disease (HSCR) is a congenital disorder, defined by partial or complete loss of the neuronal ganglion cells in the intestinal tract, which is caused by the failure of neural crest cells to migrate completely during intestinal development during fetal life. HSCR has a multifactorial etiology, and genetic factors play a key role in its pathogenesis; these include mutations within several gene loci. These have been identified by screening candidate genes, or by conducting genome wide association (GWAS) studies...
May 19, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28543773/degradation-of-heme-oxygenase-1-by-the-immunoproteasome-in-astrocytes-a-potential-interferon-%C3%AE-dependent-mechanism-contributing-to-hiv-neuropathogenesis
#2
Colleen E Kovacsics, Alexander J Gill, Surendra S Ambegaokar, Benjamin B Gelman, Dennis L Kolson
Induction of the detoxifying enzyme heme oxygenase-1 (HO-1) is a critical protective host response to cellular injury associated with inflammation and oxidative stress. We previously found that HO-1 protein expression is reduced in brains of HIV-infected individuals with HIV-associated neurocognitive disorders (HAND) and in HIV-infected macrophages, where this reduction associates with enhanced glutamate release and neurotoxicity. Because HIV-infected macrophages are a small component of the cellular content of the brain, the reduction of macrophage HO-1 expression likely accounts for a small portion of brain HO-1 loss in HIV infection...
May 22, 2017: Glia
https://www.readbyqxmd.com/read/28541280/a-quantitative-csmart-assay-for-noninvasive-prenatal-screening-of-autosomal-recessive-nonsyndromic-hearing-loss-caused-by-gjb2-and-slc26a4-mutations
#3
Mingyu Han, Zhifeng Li, Wenlu Wang, Shasha Huang, Yanping Lu, Zhiying Gao, Longxia Wang, Dongyang Kang, Linwei Li, Yiqian Liu, Mengnan Xu, David S Cram, Pu Dai
PurposeThe aim of this study was to assess the performance of a noninvasive prenatal screening (NIPS) assay for accurate fetal genotyping of pregnancies at genetic risk for autosomal recessive nonsyndromic hearing loss (ARNSHL).MethodsA total of 80 pregnant couples carrying known mutations in either the GJB2 or SLC26A4 genes associated with a risk for ARNSHL were recruited to the study. Fetal amniocyte samples were genotyped by invasive prenatal screening (IPS), whereas the cell-free fetal DNA present in maternal plasma samples was genotyped using a novel NIPS method based on circulating single-molecule amplification and resequencing technology (cSMART)...
May 25, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28540032/in-vitro-hemotoxic-%C3%AE-neurotoxic-and-vasculotoxic-effects-of-the-mexican-black-tailed-rattlesnake-crotalus-molossus-nigrescens-venom
#4
David Meléndez-Martínez, Eduardo Macías-Rodríguez, Rodrigo Vázquez-Briones, Estuardo López-Vera, Martha Sandra Cruz-Pérez, Alejandra Vargas-Caraveo, Ana Gatica-Colima, Luis Fernando Plenge-Tellechea
The Mexican black-tailed rattlesnake Crotalus molossus nigrescens is distributed in the Mexican plateau. Its venom is known to cause hemolysis and presents fibrinogen coagulase, collagenase and fibrinolytic activities. These activities may be associated with hemostatic alterations, such as platelet aggregation, hemolysis and fibrinolysis, often described in ophidic accidents. However, the mechanisms of action of the C. m. nigrescens venom remain unclear. In this study we investigated the in vitro hemotoxic, neurotoxic, and vasculotoxic effects of the venom...
2017: Journal of Venom Research
https://www.readbyqxmd.com/read/28539207/effect-of-maternal-age-and-cardiac-disease-severity-on-outcome-of-pregnancy-in-women-with-congenital-heart-disease
#5
Eva Furenäs, Peter Eriksson, Ulla-Britt Wennerholm, Mikael Dellborg
BACKGROUND: There is an increasing prevalence of women with congenital heart defects reaching childbearing age. In western countries women tend to give birth at a higher age compared to some decades ago. We evaluated the CARdiac disease in PREGnancy (CARPREG) and modified World Health Organization (mWHO) risk classifications for cardiac complications during pregnancies in women with congenital heart defects and analyzed the impact of age on risk of obstetric and fetal outcome. METHODS: A single-center observational study of cardiac, obstetric, and neonatal complications with data from cardiac and obstetric records of pregnancies in women with congenital heart disease...
May 1, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28539008/position-in-the-second-stage-of-labour-for-women-without-epidural-anaesthesia
#6
REVIEW
Janesh K Gupta, Akanksha Sood, G Justus Hofmeyr, Joshua P Vogel
BACKGROUND: For centuries, there has been controversy around whether being upright (sitting, birthing stools, chairs, squatting, kneeling) or lying down (lateral (Sim's) position, semi-recumbent, lithotomy position, Trendelenburg's position) have advantages for women giving birth to their babies. This is an update of a review previously published in 2012, 2004 and 1999. OBJECTIVES: To determine the possible benefits and risks of the use of different birth positions during the second stage of labour without epidural anaesthesia, on maternal, fetal, neonatal and caregiver outcomes...
May 25, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28535307/intergenerational-impact-of-paternal-lifetime-exposures-to-both-folic-acid-deficiency-and-supplementation-on-reproductive-outcomes-and-imprinted-gene-methylation
#7
Lundi Ly, Donovan Chan, Mahmoud Aarabi, Mylène Landry, Nathalie A Behan, Amanda J MacFarlane, Jacquetta Trasler
STUDY QUESTION: Do paternal exposures to folic acid deficient (FD), and/or folic acid supplemented (FS) diets, throughout germ cell development adversely affect male germ cells and consequently offspring health outcomes? SUMMARY ANSWER: Male mice exposed over their lifetimes to both FD and FS diets showed decreased sperm counts and altered imprinted gene methylation with evidence of transmission of adverse effects to the offspring, including increased postnatal-preweaning mortality and variability in imprinted gene methylation...
May 23, 2017: Molecular Human Reproduction
https://www.readbyqxmd.com/read/28535184/maternal-zika-virus-disease-severity-virus-load-prior-dengue-antibodies-and-their-relationship-to-birth-outcomes
#8
U A Halai, K Nielsen-Saines, M E Moreira, P C Sequeira, J P Pereira Junior, A A Zin, J D Cherry, C R Gabaglia, S L Gaw, K Adachi, I Tsui, J H Pilotto, R M Ribeiro Nogueira, A M Bispo de Filippis, P Brasil
Background: Congenital Zika virus (ZIKV) syndrome is a newly identified condition resulting from infection during pregnancy. We analyzed outcome data from a mother-infant cohort in Rio de Janeiro in order to assess whether clinical severity of maternal ZIKV infection was associated with maternal virus load, prior dengue antibodies or abnormal pregnancy/infant outcomes. Methods: A clinical severity assessment tool was developed based on duration of fever, severity of rash, multisystem involvement and duration of symptoms during ZIKV infection...
May 23, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/28532221/antiphospholipid-antibodies-are-associated-with-positive-screening-for-common-mental-disorders-in-women-with-previous-pregnancy-loss-the-noha-psy-observational-study
#9
Jean-Christophe Gris, Fabienne Cyprien, Sylvie Bouvier, Eva Cochery-Nouvellon, Géraldine Lavigne-Lissalde, Erick Mercier, Jean-Pierre Balducchi
OBJECTIVE: Case reports describe neuropsychiatric manifestations associated with antiphospholipid antibodies (aPlAbs). In patients sharing the same symptoms fulfilling the antiphospholipid syndrome (APS) clinical criteria, the prevalence of common mental disorders has however never been studied. METHOD: We observed women with three consecutive abortions before the 10(th) week of gestation or one fetal loss at or beyond the 10(th) week. We compared the prevalence of common psychiatric disorders detected through screening using the Mini International Neuropsychiatric Interview, 10 years after inclusion, in women with APS (n = 506), women negative for aPlAbs but carrying the F5rs6025 or F2rs1799963 thrombogenic polymorphism (n = 269), and women with negative thrombophilia screening results as controls (n = 764)...
May 22, 2017: World Journal of Biological Psychiatry
https://www.readbyqxmd.com/read/28529453/the-role-of-germ-cell-loss-during-primordial-follicle-assembly-a-review-of-current-advances
#10
REVIEW
Yuan-Chao Sun, Xiao-Feng Sun, Paul W Dyce, Wei Shen, Hong Chen
In most female mammals, early germline development begins with the appearance of primordial germ cells (PGCs), and develops to form mature oocytes following several vital processes. It remains well accepted that significant germ cell apoptosis and oocyte loss takes place around the time of birth. The transition of the ovarian environment from fetal to neonatal, coincides with the loss of germ cells and the timing of follicle formation. All told it is common to lose approximately two thirds of germ cells during this transition period...
2017: International Journal of Biological Sciences
https://www.readbyqxmd.com/read/28529323/an-immunogenic-phenotype-in-paternal-antigen-specific-cd8-t-cells-at-embryo-implantation-elicits-later-fetal-loss-in-mice
#11
Lachlan M Moldenhauer, Kerrilyn R Diener, John D Hayball, Sarah A Robertson
Central to pregnancy success is a state of T cell tolerance to paternal antigens, which is initiated at conception. The role and regulation of specific phenotypes of CD8(+) T cells in mediating pregnancy tolerance is not clear. This study aimed to investigate the impact on pregnancy outcome of altering the cytokine environment during maternal CD8(+) T cell priming in early pregnancy. Transgenic Act-mOVA male mice were mated to C57BL/6 (B6) females to generate fetuses expressing ovalbumin (OVA) as a model paternal antigen...
May 22, 2017: Immunology and Cell Biology
https://www.readbyqxmd.com/read/28527483/single-fetal-death-in-monochorionic-twin-pregnancy-co-twin-prognosis-and-neonatal-outcome
#12
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/28526846/nk-cell-derived-il-10-is-critical-for-dc-nk-cell-dialogue-at-the-maternal-fetal-interface
#13
Sandra M Blois, Nancy Freitag, Irene Tirado-González, Shi-Bin Cheng, Markus M Heimesaat, Stefan Bereswill, Matthias Rose, Melanie L Conrad, Gabriela Barrientos, Surendra Sharma
DC-NK cell interactions are thought to influence the development of maternal tolerance and de novo angiogenesis during early gestation. However, it is unclear which mechanism ensures the cooperative dialogue between DC and NK cells at the feto-maternal interface. In this article, we show that uterine NK cells are the key source of IL-10 that is required to regulate DC phenotype and pregnancy success. Upon in vivo expansion of DC during early gestation, NK cells expressed increased levels of IL-10. Exogenous administration of IL-10 was sufficient to overcome early pregnancy failure in dams treated to achieve simultaneous DC expansion and NK cell depletion...
May 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28526753/altered-feto-placental-vascularization-feto-placental-malperfusion-and-fetal-growth-restriction-in-mice-with-egfl7-loss-of-function
#14
Lauretta A Lacko, Romulo Hurtado, Samantha Hinds, Michael G Poulos, Jason M Butler, Heidi Stuhlmann
EGFL7 is a secreted, angiogenic factor produced by embryonic endothelial cells. To understand its role in placental development, we established a novel Egfl7 knockout mouse. The mutant mice have gross defects in chorioallantoic branching morphogenesis and placental vascular patterning. Microangiography and 3D imaging revealed patchy perfusion of Egfl7(-/-) placentas marked by impeded blood conductance through sites of narrowed vessels. Consistent with poor feto-placental perfusion, Egfl7 knockout resulted in reduced placental weight and fetal growth restriction...
May 19, 2017: Development
https://www.readbyqxmd.com/read/28526451/inter-delivery-weight-gain-and-risk-of-cesarean-delivery-following-a-prior-vaginal-delivery
#15
Annie M Dude, Abbi D Lane-Cordova, William A Grobman
BACKGROUND: Approximately 1/3 of all deliveries in the United States are via cesarean. Previous research indicates weight gain during pregnancy is associated with an increased risk of cesarean delivery. It remains unclear, however, whether and to what degree weight gain between deliveries (i.e., inter-delivery weight gain) is associated with cesarean delivery in a subsequent pregnancy following a vaginal delivery. OBJECTIVES: To determine whether inter-delivery weight gain is associated with an increased risk of intrapartum cesarean delivery following a vaginal delivery...
May 16, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28522651/pregnancy-and-glomerular-disease-a-systematic-review-of-the-literature-with-management-guidelines
#16
Kimberly Blom, Ayodele Odutayo, Kate Bramham, Michelle A Hladunewich
During pregnancy, CKD increases both maternal and fetal risk. Adverse maternal outcomes include progression of underlying renal dysfunction, worsening of urine protein, and hypertension, whereas adverse fetal outcomes include fetal loss, intrauterine growth restriction, and preterm delivery. As such, pregnancy in young women with CKD is anxiety provoking for both the patient and the clinician providing care, and because the heterogeneous group of glomerular diseases often affects young women, this is an area of heightened concern...
May 18, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/28522536/a-placental-growth-factor-is-silenced-in-mouse-embryos-by-the-zinc-finger-protein-zfp568
#17
Peng Yang, Yixuan Wang, Don Hoang, Matthew Tinkham, Anamika Patel, Ming-An Sun, Gernot Wolf, Mairead Baker, Huan-Chieh Chien, Kuan-Yu Nick Lai, Xiaodong Cheng, Che-Kun James Shen, Todd S Macfarlan
Insulin-like growth factor 2 (IGF2) is the major fetal growth hormone in mammals. We identify zinc finger protein 568 (ZFP568), a member of the rapidly evolving Kruppel-associated box-zinc finger protein (KRAB-ZFP) family linked primarily to silencing of endogenous retroelements, as a direct repressor of a placental-specific Igf2 transcript (designated Igf2-P0) in mice. Loss of Zfp568, which causes gastrulation failure, or mutation of the ZFP568-binding site at the Igf2-P0 promoter causes inappropriate Igf2-P0 activation...
May 19, 2017: Science
https://www.readbyqxmd.com/read/28518477/acute-oligodendrocyte-loss-with-persistent-white-matter-injury-in-a-third-trimester-equivalent-mouse-model-of-fetal-alcohol-spectrum-disorder
#18
Jessie Newville, Carlos Fernando Valenzuela, Lu Li, Lauren L Jantzie, Lee Anna Cunningham
Alcohol exposure during central nervous system (CNS) development can lead to fetal alcohol spectrum disorder (FASD). Human imaging studies have revealed significant white matter (WM) abnormalities linked to cognitive impairment in children with FASD; however, the underlying mechanisms remain unknown. Here, we evaluated both the acute and long-term impacts of alcohol exposure on oligodendrocyte number and WM integrity in a third trimester-equivalent mouse model of FASD, in which mouse pups were exposed to alcohol during the first 2 weeks of postnatal development...
May 18, 2017: Glia
https://www.readbyqxmd.com/read/28513522/comparison-between-olfactory-function-of-pregnant-women-and-non-pregnant-women-in-reproductive-age-group-in-ibadan-nigeria
#19
U Nwankwo, A J Fasunla, A Oladokun, O G Nwaorgu
BACKGROUND: Pregnant women require normal olfactory function in order to develop good appetite for healthy living and normal fetal development. This study was carried out to investigate and compare olfactory function of pregnant women with non-pregnant women. METHODS: This was a case control study of women in reproductive age group at the University College Hospital, Ibadan, Nigeria from July 2014 to February 2015. Consecutive 70 pregnant women and 70 non-pregnant women (controls) without rhinologic symptoms were studied...
May 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/28507483/effects-of-hesperidin-on-formaldehyde-induced-toxicity-in-pregnant-rats
#20
Sameha Merzoug, Mohamed Lamine Toumi
This experimental study aimed to investigate the protective effect of a bioflavonoid, hesperidin (HP), on formaldehyde (FA)-related pathophysiological and behavioral outcomes in pregnant rats and developmental aspects in their offspring. Female Wistar rats were subjected to perigestational exposure to FA (2 mg/kg/day per os) with a concomitant treatment with HP (50 mg/kg/day per os). Pregnant rats were weighed throughout gestation and tested in two behavioral paradigms (elevated plus-maze and open field) at gestational days (GD) 1, 10 and 19 to evaluate the anxiety-like behavior and locomotive alterations...
2017: EXCLI journal
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