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https://www.readbyqxmd.com/read/29330546/older-mothers-and-increased-impact-of-prenatal-screening-stable-livebirth-prevalence-of-trisomy-21-in-the-netherlands-for-the-period-2000-2013
#1
Maurike D de Groot-van der Mooren, Saskia Tamminga, Dick Oepkes, Michel E Weijerman, Martina C Cornel
In the Netherlands, there is no registry system regarding the livebirth prevalence of trisomy 21 (T21). In 2007, a national screening programme was introduced for all pregnant women, which may have changed the livebirth prevalence of T21. The aim of this study is to analyse trends in factors that influence livebirth prevalence of T21 and to estimate the livebirth prevalence of T21 for the period of 2000-2013. National data sets were used on the following: (1) livebirths according to maternal age and (2) prenatal testing and termination of pregnancy (ToP) following diagnosis of T21...
January 12, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29328348/body-image-issues-in-lithuanian-females-before-and-during-pregnancy
#2
Janina Tutkuviene, Austeja Juskaite, Justina Katinaite, Simona Silove, Jonas Drasutis, Ruta Sargautyte, Diana Ramasauskaite, Grazina Drasutiene
There is a risk that during pregnancy a woman's changing physique might result in stronger concerns about her appearance and may lead to negative consequences both for mother and foetus. The aim of the present study was to assess women's self-esteem, body image and weight control before and during pregnancy. A cross-sectional study was carried out at the Centre of Obstetrics and Gynaecology of Vilnius University Hospital. In total, 234 pregnant women were investigated. The Self-esteem was measured by Rosenberg's scale (1965), while the attitude towards the body size - by Stunkard's figure rating scale (1983)...
January 12, 2018: Anthropologischer Anzeiger; Bericht über die Biologisch-anthropologische Literatur
https://www.readbyqxmd.com/read/29321361/a-novel-contiguous-deletion-involving-ndp-maob-and-efhc2-gene-in-a-patient-with-familial-norrie-disease-bilateral-blindness-and-leucocoria-without-other-deficits
#3
Bei Jia, Liping Huang, Yaoyu Chen, Siping Liu, Cuihua Chen, Ke Xiong, Lanlin Song, Yulai Zhou, Xinping Yang, Mei Zhong
Contiguous microdeletions of the Norrie disease pseudoglioma (NDP) region on chromosome Xp11.3 have been widely confirmed as contributing to the typical clinical features of Norrie disease (ND). However, the precise relation between genotype and phenotype could vary. The contiguous deletion of NDP and its neighbouring genes, MAOA/B and EFHC2, reportedly leads to syndromic clinical features such as microcephaly, intellectual disability, and epilepsy. Herewe report a novel contiguous microdeletion of the NDP region containing the MAOB and EFHC2 genes,which causes eye defects but no cognitive disability...
December 2017: Journal of Genetics
https://www.readbyqxmd.com/read/29319266/gitelman-syndrome-presenting-during-pregnancy-with-adverse-foetal-outcome
#4
N Nand, A R Deshmukh, R Mathur, V Chauhan, Brijlal
Gitelman syndrome (GS) is a rare autosomal recessive salt-losing tubulopathy. The incidence of Gitelman syndrome is 25 cases in 1 million among western population. This patient presented with loose stool, vomiting and sudden onset quadriparesis. Investigations revealed hypokalaemia, metabolic acidosis, hypomagnesaemia, hypocalciuria, hypermagnesuria. Symptoms and hypokalemia improved after starting oral magnesium and potassium supplements. But the patient again presented with symptomatic hypokalemia and delivered a still born foetus with hydrocephalus...
October 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/29311655/species-specific-posture-of-human-foetus-in-late-first-trimester
#5
Yoshiyuki Ohmura, Seiichi Morokuma, Kiyoko Kato, Yasuo Kuniyoshi
The ontogeny associated with the arm-hanging posture, which is considered ape-specific, remains unknown. To examine its ontogeny, we measured foetal movements of 62 human foetuses aged 10-20 gestation weeks using four-dimensional sonography. We observed that the first-trimester foetuses show this particular species-specific posture. After 11 weeks of gestation, all foetuses showed the arm-hanging posture, and the posture was most frequently observed at 14-16 weeks of gestation. Moreover, this posture often involved extension of both arms and both legs, indicating that it is not myogenic but neurogenic...
January 8, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29310609/self-medication-among-pregnant-women-attending-antenatal-clinic-at-makongoro-health-centre-in-mwanza-tanzania-a-challenge-to-health-systems
#6
Karol J Marwa, Agnes Njalika, Deodatus Ruganuza, Deogratias Katabalo, Erasmus Kamugisha
BACKGROUND: Self-medication is a universal challenge that requires attention because of the potential threat not only to the pregnant women but also to unborn child. Data on self-medication practice and predictors among pregnant women is lacking in Tanzania. Information on the effects of this practice to the pregnant woman and the foetus globally is also scanty. METHODS: This was a cross sectional study which was conducted using face to face interview with 372 pregnant women at Makongoro health centre...
January 8, 2018: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29290922/gestational-diabetes-from-a-to-z
#7
REVIEW
AbdelHameed Mirghani Dirar, John Doupis
Gestational diabetes mellitus (GDM) is defined as any degree of hyperglycaemia that is recognized for the first time during pregnancy. This definition includes cases of undiagnosed type 2 diabetes mellitus (T2DM) identified early in pregnancy and true GDM which develops later. GDM constitutes a greater impact on diabetes epidemic as it carries a major risk of developing T2DM to the mother and foetus later in life. In addition, GDM has also been linked with cardiometabolic risk factors such as lipid abnormalities, hypertensive disorders and hyperinsulinemia...
December 15, 2017: World Journal of Diabetes
https://www.readbyqxmd.com/read/29287852/low-set-ears-and-associated-anomalies-in-human-foetuses
#8
Alfredo Nuñez-Castruita, Norberto López-Serna
OBJECTIVES: To determine the prevalence of low-set ears (LSE) in a group of human foetuses, to analyse the associated anomalies, and to review the development mechanisms possibly involved. METHODS: A total of 1759 human foetuses from spontaneous abortion were evaluated. Foetuses were obtained from the Foetuses and Embryos Collection of the Embryology Department of the Faculty of Medicine of the Autonomous University of Nuevo León. The Ethics Committee gave its approval for this study (EH-230-16)...
January 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29259316/correction-of-a-disease-mutation-using-crispr-cas9-assisted-genome-editing-in-japanese-black-cattle
#9
Mitsumi Ikeda, Shuichi Matsuyama, Satoshi Akagi, Katsuhiro Ohkoshi, Sho Nakamura, Shiori Minabe, Koji Kimura, Misa Hosoe
Isoleucyl-tRNA synthetase (IARS) syndrome is a recessive disease of Japanese Black cattle caused by a single nucleotide substitution. To repair the mutated IARS gene, we designed clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein 9 (Cas9) to create a double-strand break near the mutation site. CRISPR/Cas9 and donor DNA that contained a synonymous codon for the correct amino acid and an Aequorea coerulescens Green Fluorescent Protein (AcGFP) cassette with a piggyBac transposase recognition site at both ends were introduced into bovine fetal fibroblast (BFF) cells isolated from a homozygous mutant calf...
December 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29250544/choroidal-thickness-in-women-with-uncomplicated-pregnancy-literature-review
#10
REVIEW
Joanna Roskal-Wałek, Iwona Laudańska-Olszewska, Michał Biskup, Magdalena Gierada, Dominik Odrobina
Pregnancy is a time when many changes occur in a woman's body. The goal of these changes is the provision of optimum conditions for the development of the foetus. Pregnancy also affects eye physiology. Well recognized physiological changes include a reduced corneal sensitivity, an increase in its central thickness and curvature, and a decrease in intraocular pressure. The association between choroidal thickness and pregnancy is not clear. Haemodynamic and hormonal changes taking place during pregnancy and the question of whether these changes are reflected by choroidal thickness are especially important...
2017: BioMed Research International
https://www.readbyqxmd.com/read/29248699/machine-learning-ensemble-modelling-to-classify-caesarean-section-and-vaginal-delivery-types-using-cardiotocography-traces
#11
Paul Fergus, Malarvizhi Selvaraj, Carl Chalmers
Human visual inspection of Cardiotocography traces is used to monitor the foetus during labour and avoid neonatal mortality and morbidity. The problem, however, is that visual interpretation of Cardiotocography traces is subject to high inter and intra observer variability. Incorrect decisions, caused by miss-interpretation, can lead to adverse perinatal outcomes and in severe cases death. This study presents a review of human Cardiotocography trace interpretation and argues that machine learning, used as a decision support system by obstetricians and midwives, may provide an objective measure alongside normal practices...
December 8, 2017: Computers in Biology and Medicine
https://www.readbyqxmd.com/read/29247566/application-of-the-bacs-on-beadstm-assay-for-rapid-prenatal-detection-of-aneuploidies-and-microdeletions
#12
Hailong Huang, Min Zhang, Yan Wang, Na Lin, Deqin He, Meihuan Chen, Lingji Chen, Yuan Lin, Liangpu Xu
Prenatal diagnosis focuses on the detection of anatomic and physiologic problems with a foetus before birth. Karyotyping is currently considered the gold standard for prenatal diagnosis of chromosomal abnormalities, but this method can be time consuming. This study evaluated the diagnostic accuracy of the BACs-on-BeadsTM (BoBsTM ) assay for the rapid diagnosis of aneuploidies and microdeletions. A total of 625 samples from pregnant women in Fujian province, in southeastern China - including 3 chorionic villus biopsies, 523 amniotic fluid samples, and 99 umbilical-cord centesis samples - were assessed for chromosomal abnormalities by karyotyping and by the BoBsTM assay...
December 16, 2017: Molecular Reproduction and Development
https://www.readbyqxmd.com/read/29247352/imaging-putative-foetal-cerebral-blood-oxygenation-using-susceptibility-weighted-imaging-swi
#13
Brijesh Kumar Yadav, Uday Krishnamurthy, Sagar Buch, Pavan Jella, Edgar Hernandez-Andrade, Lami Yeo, Steven J Korzeniewski, Anabela Trifan, Sonia S Hassan, E Mark Haacke, Roberto Romero, Jaladhar Neelavalli
OBJECTIVE: To evaluate the magnetic susceptibility, ∆χ v , as a surrogate marker of venous blood oxygen saturation, S v O 2, in second- and third-trimester normal human foetuses. METHODS: Thirty-six pregnant women, having a mean gestational age (GA) of 31 2/7 weeks, underwent magnetic resonance imaging (MRI). Susceptibility-weighted imaging (SWI) data from the foetal brain were acquired. ∆χ v of the superior sagittal sinus (SSS) was quantified using MR susceptometry from the intra-vascular phase measurements...
December 15, 2017: European Radiology
https://www.readbyqxmd.com/read/29244857/maternal-plasma-angiogenic-and-inflammatory-factor-profiling-in-foetal-down-syndrome
#14
Monika Zbucka-Kretowska, Karol Charkiewicz, Joanna Goscik, Slawomir Wolczynski, Piotr Laudanski
OBJECTIVE AND DESIGN: Angiogenic factors are proteins that are related to certain foetal chromosomal abnormalities. The aim of this study was to determine the concentration of 60 angiogenic factors in the plasma of women with offspring possessing trisomy 21/Down syndrome (DS). METHOD: After analysing karyotyping results, we selected 20 patients with foetuses possessing DS, and for the control group, we selected 28 healthy patients with uncomplicated pregnancies who delivered healthy newborns at term (i...
2017: PloS One
https://www.readbyqxmd.com/read/29241699/sterile-water-injections-for-childbirth-pain-an-evidenced-based-guide-to-practice
#15
Lena B Mårtensson, Eileen K Hutton, Nigel Lee, Sue Kildea, Yu Gao, Ingrid Bergh
BACKGROUND: About 30% of women in labour suffer from lower back pain. Studies of sterile water injections for management of low back pain have consistently shown this approach to be effective. The objective of this evidence-based guide is to facilitate the clinical use of sterile water injections to relieve lower back pain in labouring women. METHODS: To identify relevant publications our search strategy was based on computerised literature searches in scientific databases...
December 11, 2017: Women and Birth: Journal of the Australian College of Midwives
https://www.readbyqxmd.com/read/29239050/therapeutic-potential-of-amniotic-fluid-stem-cells-to-treat-bilateral-ovarian-dystrophy-in-dairy-cows-in-a-subtropical-region
#16
L-B Chang, S-Y Peng, C-J Chou, Y-J Chen, J-S Shiu, P-A Tu, S-X Gao, Y-C Chen, T-K Lin, S-C Wu
Amniotic fluid is a rich source of multipotent mesenchymal stem cells (MSCs). Amniotic fluid stem cells (AFSCs) have become a new source of stem cells; they have low immunogenicity and are easily harvested. For this reason, they may be useful in clinical tissue engineering. Moreover, AFSCs have anti-inflammatory properties and can repair tissues. This study evaluated the utility of AFSC injection to treat bilateral ovarian dystrophy in Holstein-Friesian cows. Bovine AFSCs (BAFSCs) were collected at slaughter from Holstein-Friesian cows during the third or fourth month of pregnancy and cultured in vitro...
December 14, 2017: Reproduction in Domestic Animals, Zuchthygiene
https://www.readbyqxmd.com/read/29233116/reference-ranges-for-foetal-nasal-bone-length-prenasal-thickness-and-interocular-distance-at-18-to-24%C3%A2-weeks-gestation-in-low-risk-pregnancies
#17
Ayşegül Altunkeser, M Kazım Körez
BACKGROUND: The aim of the present study was to establish the normal ranges for foetal nasal bone length (NBL), prenasal skin thickness (PNT), interocular distance (IOD), and ratio of prenasal thickness to- nasal bone length (PNT/ NBL) at 18-24 weeks using two-dimensional (2D) ultrasound. METHODS: This study was a retrospective study of prenatal ultrasonographic records from 407 foetuses between 18 and 24 weeks gestational age (GA). The NBL, PNT, IOD, PNT/ NBL ratio, biparietal diameter (BPD), and femur length (FL) were investigated...
December 12, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29231912/-cerebroplacental-ratio-cpr-and-amniotic-fluid-index-afi-as-prognostic-factors-of-terminating-pregnancy-with-cesarean-section-after-induction-of-labour
#18
Hanna Makles, Jacek R Wilczyński
HASH(0x3d35c48) AIM: The aim of the study was to estimate the value of the cerebroplacental ratio (CPR) and amniotic fluid index (AFI) in pregnancies after 41 week as prognostic factors of terminating pregnancy with cesarean section after induction of labour. MATERIALS AND METHODS: The study included 130 pregnant women, including 100 women, between 41 and 42 weeks of gestation, in whom induced labour resulted in a cesarean section due to three main indications: lack of progress of labour - group I - 44 pregnant women, signs of foetal distress - group II - 32 pregnant women and lack of response to induced labour - group III - 24 pregnant women...
November 23, 2017: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29230973/sensitivity-specificity-and-predictive-probability-values-of-serum-agglutination-test-titres-for-the-diagnosis-of-salmonella-dublin-culture-positive-bovine-abortion-and-stillbirth
#19
C Sánchez-Miguel, J Crilly, J Grant, J F Mee
The objective of this study was to determine the diagnostic value of maternal serology for the diagnosis of Salmonella Dublin bovine abortion and stillbirth. A retrospective, unmatched, case-control study was carried out using twenty year's data (1989-2009) from bovine foetal submissions to an Irish government veterinary laboratory. Cases (n = 214) were defined as submissions with a S. Dublin culture-positive foetus from a S. Dublin unvaccinated dam where results of maternal S. Dublin serology were available...
December 12, 2017: Transboundary and Emerging Diseases
https://www.readbyqxmd.com/read/29229988/dietary-habits-and-cooking-methods-could-reduce-avoidable-exposure-to-pcbs-in-maternal-and-cord-sera
#20
Weiwei Jin, Masae Otake, Akifumi Eguchi, Kenichi Sakurai, Hiroko Nakaoka, Masahiro Watanabe, Emiko Todaka, Chisato Mori
Polychlorinated biphenyls (PCBs), like other persistent organic pollutants, are accumulating throughout the food chain and pose health threats to humans, especially children and foetuses. There is no protocol for reducing the contamination levels of the PCBs in humans. This study identified food items and cooking methods that reduce serum PCB levels by analysing data collected from the Chiba Study of Mother and Child Health. The sample size was 194 subjects. Serum PCB levels were measured using gas chromatography-electron capture negative ionization quadrupole mass spectrometry...
December 11, 2017: Scientific Reports
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