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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
#1
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/28540977/oral-contraceptive-pill-progestogen-or-oestrogen-pretreatment-for-ovarian-stimulation-protocols-for-women-undergoing-assisted-reproductive-techniques
#2
REVIEW
Cindy Farquhar, Luk Rombauts, Jan Am Kremer, Anne Lethaby, Reuben Olugbenga Ayeleke
BACKGROUND: Among subfertile women undergoing assisted reproductive technology (ART), hormone pills given before ovarian stimulation may improve outcomes. OBJECTIVES: To determine whether pretreatment with the combined oral contraceptive pill (COCP) or with a progestogen or oestrogen alone in ovarian stimulation protocols affects outcomes in subfertile couples undergoing ART. SEARCH METHODS: We searched the following databases from inception to January 2017: Cochrane Gynaecology and Fertility Group Specialised Register, The Cochrane Central Register Studies Online, MEDLINE, Embase, CINAHL and PsycINFO...
May 25, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28540268/effects-of-high-and-low-doses-of-folic-acid-on-the-soluble-receptor-activator-of-nuclear-factor-kappa-b-ligand-osteoprotegerin-ratio-during-pregnancy
#3
Nazila Fathi Maroufi, Amir Ghorbanihaghjo, Manizheh Sayyah Melli, Maryam Vaezi, Zohreh Hekmati Azar Mehrabani, Maryam Bannazadeh Amirkhiz, Nadereh Rashtchizadeh
BACKGROUND: Pregnancy Associated Osteoporosis (PAO) can lead to serious difficulties such as fragility fractures, elongated back pain and height loss in affected women. Soluble Receptor Activator of Nuclear Factor-Kappa B ligand (sRANKL) to Osteoprotegerin (OPG) ratio is chosen as a bone metabolism equation in many bone diseases characterized by bone resorption, such as post-menopausal osteoporosis and would be modified with folic acid supplementation. This study was done to compare the effects of high dose (5mg/day) and low dose (0...
April 2017: Iranian Journal of Public Health
https://www.readbyqxmd.com/read/28540180/hemoglobin-and-mean-platelet-volume-predicts-diffuse-t1-mri-white-matter-volume-decrease-in-sickle-cell-disease-patients
#4
Soyoung Choi, Adam M Bush, Matthew T Borzage, Anand A Joshi, William J Mack, Thomas D Coates, Richard M Leahy, John C Wood
Sickle cell disease (SCD) is a life-threatening genetic condition. Patients suffer from chronic systemic and cerebral vascular disease that leads to early and cumulative neurological damage. Few studies have quantified the effects of this disease on brain morphometry and even fewer efforts have been devoted to older patients despite the progressive nature of the disease. This study quantifies global and regional brain volumes in adolescent and young adult patients with SCD and racially matched controls with the aim of distinguishing between age related changes associated with normal brain maturation and damage from sickle cell disease...
2017: NeuroImage: Clinical
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/28538937/-mother-child-relationship-and-associated-factors-hierarchical-analysis-of-the-population-base-in-a-brazilian-state-capital-brisa-study
#7
Milady Cutrim Vieira Cavalcante, Fernando Lamy, Ana Karina Teixeira da Cunha França, Zeni Carvalho Lamy
Several factors can interfere in the mother-child relationship. Studies about different maternal characteristics and this relationship are scarce; they mainly evaluate women with psychopathology and use simultaneous regression models with adjustment for multiple confounders. This study aimed to assess factors associated with losses in the mother-child relationship through a cohort of 3,215 mothers of children between 15 and 36 months of age. Losses in the mother-child relationship, assessed by the Postpartum Bonding Questionnaire, was the outcome variable and the explanatory variables were demographic, socioeconomic, reproductive health and mental health of mothers as well as the conditions of the birth of children...
May 2017: Ciência & Saúde Coletiva
https://www.readbyqxmd.com/read/28538012/antiphospholipid-syndrome-an-update-for-clinicians-and-scientists
#8
Andrew P Vreede, Paula L Bockenstedt, Jason S Knight
PURPOSE OF REVIEW: Antiphospholipid syndrome (APS) is a leading acquired cause of thrombosis and pregnancy loss. Upon diagnosis (which is unlikely to be made until at least one morbid event has occurred), anticoagulant medications are typically prescribed in an attempt to prevent future events. This approach is not uniformly effective and does not prevent associated autoimmune and inflammatory complications. The goal of this review is to update clinicians and scientists on mechanistic and clinically relevant studies from the past 18 months, which have especially focused on inflammatory aspects of APS pathophysiology...
May 22, 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/28537237/-comparative-results-of-preimplantation-genetic-screening-by-array-comparative-genomic-hybridization-and-new-generation-sequencing
#9
N V Aleksandrova, E S Shubina, A N Ekimov, T A Kodyleva, I S Mukosey, N P Makarova, E V Kulakova, L A Levkov, I Yu Barkov, D Yu Trofimov, G T Sukhikh
Aneuploidies as quantitative chromosome abnormalities are a main cause of failed development of morphologically normal embryos, implantation failures, and early reproductive losses. Preimplantation genetic screening (PGS) allows a preselection of embryos with a normal karyotype, thus increasing the implantation rate and reducing the frequency of early pregnancy loss after IVF. Modern PGS technologies are based on a genome-wide analysis of the embryo. The first pilot study in Russia was performed to assess the possibility of using semiconductor new-generation sequencing (NGS) as a PGS method...
March 2017: Molekuliarnaia Biologiia
https://www.readbyqxmd.com/read/28536980/a-retrospective-cohort-study-of-obstetric-outcomes-in-opioid-dependent-women-treated-with-implant-naltrexone-oral-methadone-or-sublingual-buprenorphine-and-non-dependent-controls
#10
Erin Kelty, Gary Hulse
BACKGROUND: Opioid pharmacotherapies play an important role in the treatment of opioid-dependent women; however, very little is known about the safety of naltrexone in pregnant patients. OBJECTIVE: This study examined the obstetric health of opioid-dependent women who were treated with implant naltrexone during pregnancy, and compared them with women treated with methadone and/or buprenorphine and a cohort of non-opioid-dependent controls. METHODS: Women treated with implant naltrexone, oral methadone or sublingual buprenorphine between 2001 and 2010, along with a cohort of age-matched controls, were linked with records from midwives, hospital and emergency departments (EDs) and the death registry to identify pregnancy and health events that occurred during pregnancy and in the post-partum period...
May 23, 2017: Drugs
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
#11
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
#12
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/28533686/misoprostol-for-miscarriage-management-in-a-woman-with-previous-five-cesarean-deliveries-a-case-report-and-literature-review
#13
Doua AlSaad, Sawsan Alobaidly, Palli Abdulrouf, Binny Thomas, Afif Ahmed, Moza AlHail
BACKGROUND: Misoprostol is an effective medical method for the management of pregnancy loss. However, data on its efficacy and safety in women with previous cesarean deliveries are limited. CASE PRESENTATION: We report a 36-year-old patient, gravida 11 para 6, with a diagnosis of missed miscarriage at 15 weeks of gestation. The patient had a significant obstetric history of previous five cesarean deliveries and uterine rupture. Following patient counseling about the medical and surgical options of managing her miscarriage, the patient opted for medical method...
2017: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/28533329/pregnancy-outcome-after-first-trimester-use-of-methyldopa-a-prospective-cohort-study
#14
Maria Hoeltzenbein, Evelin Beck, Anne-Katrin Fietz, Juliane Wernicke, Sandra Zinke, Angela Kayser, Stephanie Padberg, Corinna Weber-Schoendorfer, Reinhard Meister, Christof Schaefer
Published experience on first trimester exposure to methyldopa is still limited, although it is recommended as first-line treatment for hypertensive disorders in pregnancy in most countries. The primary aim of this prospective observational cohort study was to analyze the rate of major birth defects and spontaneous abortions in women with methyldopa therapy for chronic hypertension. Outcomes of 261 pregnancies with first trimester exposure to methyldopa and 526 comparison pregnancies without chronic hypertension reported to the German Embryotox pharmacovigilance institute were evaluated...
May 22, 2017: Hypertension
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
#15
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/28529452/estradiol-suppresses-tlr4-triggered-apoptosis-of-decidual-stromal-cells-and-drives-an-anti-inflammatory-th2-shift-by-activating-sgk1
#16
Yiyun Lou, Minhao Hu, Qijing Wang, Mu Yuan, Ning Wang, Fang Le, Lejun Li, Shisi Huang, Liya Wang, Xiangrong Xu, Fan Jin
A pro-inflammatory cytokine profile at the feto-maternal interface may predispose immune maladaptation notably in early miscarriages. We investigated the involvement of estradiol (E2)-activated serum-glucocorticoid regulated kinase 1 (SGK1) in preserving the tolerogenic and pro-survival intrauterine microenvironment beneficial to gestation maintenance. Decidual SGK1 was down-regulated in early miscarriage, consistent with the lower serum E2 concentration seen in pregnancy loss. Lipopolysaccharide (LPS)/Toll-like receptors 4 (TLR4) signaling induced apoptosis and the pro-inflammatory T helper type (TH) 1 response of decidual stromal cells (DSCs) were associated with miscarriage...
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
#17
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
#18
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
#19
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/28526451/inter-delivery-weight-gain-and-risk-of-cesarean-delivery-following-a-prior-vaginal-delivery
#20
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
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