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https://www.readbyqxmd.com/read/29331982/a-false-carrier-state-for-the-c-579g-a-mutation-in-the-ncf1-gene-in-ashkenazi-jews
#1
Martin De Boer, Ronit Gavrieli, Karin van Leeuwen, Haike Reznik Wolf, Maya Dushnitzki, Yifaat Bar-Yosef, Anat Bar-Ziv, Doron Behar, Shlomo Lipitz, Tal Elkan Miller, Anton T J Tool, Taco W Kuijpers, Timo K van den Berg, Baruch Wolach, Dirk Roos, Elon Pras
BACKGROUND: Mutations in the NCF1 gene that encodes p47phox, a subunit of the NADPH oxidase complex, cause chronic granulomatous disease (CGD). In Kavkazi Jews, a c.579G>A (p.Trp193Ter) mutation in NCF1 is frequently found, leading to CGD. The same mutation is found in about 1% of Ashkenazi Jews, although Ashkenazi CGD patients with this mutation have never been described. METHODS: We used Sanger sequencing, multiplex ligation-dependent probe amplification (MLPA), gene scan analysis and Ion Torrent Next Generation Sequencing for genetic analysis, and measured NADPH oxidase activity and p47phox expression...
January 13, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29330635/hypotension-due-to-spinal-anesthesia-influences-fetal-circulation-in-primary-caesarean-sections
#2
K Lato, I Bekes, Peter Widschwendter, T W P Friedl, W Janni, F Reister, G Froeba, U Friebe-Hoffmann
PURPOSE: Hypotension due to spinal anesthesia is a well-known side effect in pregnant women receiving caesarean section. Little is known about its impact on fetal blood circulation. METHODS: 40 women with uncomplicated singleton term pregnancies prepared for caesarean section were prospectively evaluated by Doppler sonography before and immediately after spinal anesthesia. RESULTS: In 90% of the women, blood pressure significantly decreased after spinal anesthesia and 42...
January 12, 2018: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/29329571/environmental-exposures-and-fetal-growth-the-haifa-pregnancy-cohort-study
#3
Rachel Golan, Itai Kloog, Ronit Almog, Anat Gesser-Edelsburg, Maya Negev, Maya Jolles, Varda Shalev, Vered H Eisenberg, Gideon Koren, Wiessam Abu Ahmad, Hagai Levine
BACKGROUND: The developing fetus is susceptible to environmental insults. Studying the effects of environmental exposures on fetal growth is essential for understanding the causal pathway between prenatal exposures and pregnancy outcomes. Here we describe the Haifa Pregnancy Cohort Study (HPCS) and discuss challenges and opportunities in applying "big data" paradigm. METHODS: Maccabi Healthcare Services (MHS), is the second largest Israeli health maintenance organization (HMO) providing care services to two million beneficiaries...
January 12, 2018: BMC Public Health
https://www.readbyqxmd.com/read/29329527/emotional-and-cognitive-experiences-during-the-time-of-diagnosis-and-decision-making-following-a-prenatal-diagnosis-a-qualitative-study-of-males-presented-with-congenital-heart-defect-in-the-fetus-carried-by-their-pregnant-partner
#4
Tommy Carlsson, Elisabet Mattsson
BACKGROUND: Expectant fathers consider the second-trimester obstetric ultrasound examination as an important step towards parenthood, but are ill prepared for a detection of a fetal anomaly. Inductive research is scarce concerning their experiences and needs for support. Consequently, the aim of this study was to explore the emotional and cognitive experiences, during the time of diagnosis and decision-making, among males presented with congenital heart defect in the fetus carried by their pregnant partner...
January 12, 2018: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29328036/-structure-and-risk-factors-for-congenital-malformations
#5
Y Uteuliyev, V Balkibekova, A Saktapov, K Konysbayeva, V Atarbayeva, N Iskakova
Congenital malformations and anomalies occupy leading positions in the structure of infant mortality and disability. In order to reduce the risk of children with these disorders, it is necessary to carefully study the causes of congenital malformations. In this connection, the structures and risk factors of congenital malformations of the fetus were studied and recommendations for the improvement of preventive measures were developed. When studying the structure of congenital malformations of the fetus in Almaty, hereditary and acquired causes of congenital malformation are identified...
December 2017: Georgian Medical News
https://www.readbyqxmd.com/read/29327490/fetal-subcutaneous-cells-have-potential-for-autologous-tissue-engineering
#6
Åsa Ekblad, Magnus Westgren, Magdalena Fossum, Cecilia Götherström
BACKGROUND: Major congenital malformations affect up to 3% of newborns. Infants with prenatally diagnosed soft tissue defects should benefit from having autologous tissue readily available for surgical implantation in the perinatal period. In this study, we investigate fetal subcutaneous cells (fSC) as cellular source for tissue engineering. METHODS: Fetal subcutaneous biopsies were collected from elective terminations at gestational week 20-21. Cells were isolated, expanded and characterized in vitro...
January 11, 2018: Journal of Tissue Engineering and Regenerative Medicine
https://www.readbyqxmd.com/read/29327352/ultrasound-findings-provide-clues-to-investigate-founder-mutations-expressed-as-runs-of-homozygosity-in-chromosomal-microarray-studies
#7
Hagit Daum, Israela Lerer, Ayala Frumkin, Daniel Rosenak, Nili Yanai, Shay Porat, Simcha Yagel, Vardiella Meiner
OBJECTIVES: Chromosomal microarray (CMA) analysis is effectively applied prenatally to detect copy number changes. SNP probes included in the microarray platform can detect regions of excessive homozygosity (ROH) and identical-by-descent genomic stretches. The utility of the latter as part of prenatal diagnosis is not well established. Recessive founder mutations are well recognized within distinct ethnic groups. Combining these data with prenatal sonography provides accurate focused molecular diagnoses quickly...
January 11, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29325971/incorporation-of-fetal-and-child-pfoa-dosimetry-in-the-derivation-of-health-based-toxicity-values
#8
Kyra Kimberly Kieskamp, Rachel Rogers Worley, Eva D McLanahan, Marc-André Verner
BACKGROUND: Multiple agencies have developed health-based toxicity values for exposure to perfluorooctanoic acid (PFOA). Although PFOA exposure occurs in utero and through breastfeeding, current health-based toxicity values have not been derived using fetal or child dosimetry. Therefore, current values may underestimate the potential risks to fetuses and nursing infants. OBJECTIVE: Using fetal and child dosimetry, we aimed to calculate PFOA maternal human equivalent doses (HEDs), corresponding to a developmental mouse study lowest observed adverse effect level (LOAEL, 1mg/kg/day)...
December 23, 2017: Environment International
https://www.readbyqxmd.com/read/29325266/-analysis-of-649-cases-of-stillbirth-in-third-trimester
#9
M N Hu, Y Zhang, W Zhao
Objective: To analyze the risk factors of stillbirth in third trimester. Methods: Clinical data of 649 cases of stillbirth in third trimester were analyzed retrospectively in 22 hospitals of Haidian district from October 2011 to September 2016, including the incidence, the maternal profile, the perinatal care during pregnancy and the causes of stillbirth. Results: (1) The incidence of stillbirth in third trimester in Haidian district from October 2011 to September 2016 was 0.293%(649/221 845). While the incidence in floating pregnant women (0...
December 25, 2017: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/29324601/potentially-preventable-stillbirth-in-a-diverse-u-s-cohort
#10
Jessica M Page, Vanessa Thorsten, Uma M Reddy, Donald J Dudley, Carol J Rowland Hogue, George R Saade, Halit Pinar, Corette B Parker, Deborah Conway, Barbara J Stoll, Donald Coustan, Radek Bukowski, Michael W Varner, Robert L Goldenberg, Karen Gibbins, Robert M Silver
OBJECTIVE: To estimate the proportion of potentially preventable stillbirths in the United States. METHODS: We conducted a secondary analysis of 512 stillbirths with complete evaluation enrolled in the Stillbirth Collaborative Research Network from 2006 to 2008. The Stillbirth Collaborative Research Network was a multisite, geographically, racially, and ethnically diverse, population-based case-control study of stillbirth in the United States. Cases of stillbirth underwent standard evaluation that included maternal interview, medical record abstraction, biospecimen collection, postmortem examination, placental pathology, and clinically recommended evaluation...
January 9, 2018: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29322592/predicting-the-intrauterine-fetal-death-of-fetuses-with-cystic-hygroma-in-early-pregnancy
#11
Mai Shimura, Hiroshi Ishikawa, Hiromi Nagase, Akihiko Mochizuki, Futoshi Sekiguchi, Naho Koshimizu, Toshiyuki Itai, Mizuha Odagami
We investigated whether it was possible to predict the prognosis of fetuses with cystic hygroma (CH) in early pregnancy based on the degree of neck thickening. We retrospectively analyzed 57 singleton pregnancies with fetuses with CH who were examined before the 22nd week of pregnancy. The fetuses were categorized according to the outcome, structural abnormalities at birth, and chromosomal abnormalities. Here, we proposed a new sonographic predictor with which we assessed neck thickening by dividing the width of the neck thickening by the biparietal diameter (BPD), which is expressed as the CH/BPD ratio (CBR)...
January 11, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29320948/the-profiles-of-soluble-adhesion-molecules-in-the-great-obstetrical-syndromes
#12
Nikolina Docheva, Roberto Romero, Piya Chaemsaithong, Adi L Tarca, Gaurav Bhatti, Percy Pacora, Bogdan Panaitescu, Noppadol Chaiyasit, Tinnakorn Chaiworapongsa, Eli Maymon, Sonia S Hassan, Offer Erez
OBJECTIVE: The objective of this study was to determine the profiles of maternal plasma soluble adhesion molecules in patients with preeclampsia, small-for-gestational-age (SGA) fetuses, acute pyelonephritis, preterm labor with intact membranes (PTL), preterm prelabor rupture of the membranes (preterm PROM), and fetal death. MATERIALS AND METHODS: A cross-sectional study was conducted to determine maternal plasma concentrations of sE-selectin, sL-selectin, and sP-selectin as well as sICAM-1, sVCAM-1, and sPECAM-1 in patients with 1) an uncomplicated pregnancy (control, n = 100); 2) preeclampsia (n = 94); 3) SGA fetuses (in women without preeclampsia/hypertension, n = 45); 4) acute pyelonephritis (n = 25); 5) PTL (n = 53); 6) preterm PROM (n = 24); and 7) fetal death (n = 34)...
January 10, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29320660/nicotine-replacement-therapy-for-smoking-cessation-during-pregnancy
#13
Yael Bar-Zeev, Ling Li Lim, Billie Bonevski, Maree Gruppetta, Gillian S Gould
Nicotine replacement therapy (NRT) is recommended in current Australian clinical guidelines for pregnant women who are unable to quit smoking unassisted. Clinicians report low levels of prescribing NRT during pregnancy, due to safety concerns and low levels of confidence in their ability to prescribe NRT. Animal models show that nicotine is harmful to the fetus, especially for brain and lung development, but human studies have not found any harmful effects on fetal and pregnancy outcomes. Studies of efficacy and effectiveness in the real world suggest that NRT use during pregnancy increases smoking cessation rates...
January 15, 2018: Medical Journal of Australia
https://www.readbyqxmd.com/read/29319918/comparison-of-modified-two-point-dixon-and-chemical-shift-encoded-mri-water-fat-separation-methods-for-fetal-fat-quantification
#14
Stephanie A Giza, Michael R Miller, Prasiddha Parthasarathy, Barbra de Vrijer, Charles A McKenzie
BACKGROUND: Fetal fat is indicative of the energy balance within the fetus, which may be disrupted in pregnancy complications such as fetal growth restriction, macrosomia, and gestational diabetes. Water-fat separated MRI is a technique sensitive to tissue lipid content, measured as fat fraction (FF), and can be used to accurately measure fat volumes. Modified two-point Dixon and chemical shift encoded MRI (CSE-MRI) are water-fat separated MRI techniques that could be applied to imaging of fetal fat...
January 10, 2018: Journal of Magnetic Resonance Imaging: JMRI
https://www.readbyqxmd.com/read/29317692/haplotype-based-noninvasive-prenatal-diagnosis-of-hyperphenylalaninemia-through-targeted-sequencing-of-maternal-plasma
#15
Jun Ye, Chao Chen, Yuan Yuan, Lianshu Han, Yaoshen Wang, Wenjuan Qiu, Huiwen Zhang, Asan, Xuefan Gu
Here we developed a haplotype-based noninvasive prenatal diagnosis method for hyperphenylalaninemia (HPA) and demonstrated its accuracy and feasibility during early pregnancy. Capture sequencing was performed on genomic DNA from parents and probands using customized hybridization probes targeting highly heterozygous single-nucleotide polymorphisms located within the 1 M region flanking phenylalanine hydroxylase (PAH) and 6-pyruvoyltetrahydropterin (PTS) and its coding region to determine the parental haplotypes and linkage to pathogenic mutations...
January 9, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29317509/human-placental-syncytiotrophoblasts-restrict-toxoplasma-gondii-attachment-and-replication-and-respond-to-infection-by-producing-immunomodulatory-chemokines
#16
Stephanie E Ander, Elizabeth N Rudzki, Nitin Arora, Yoel Sadovsky, Carolyn B Coyne, Jon P Boyle
Toxoplasma gondii is a major source of congenital disease worldwide, but the cellular and molecular factors associated with its vertical transmission are largely unknown. In humans, the placenta forms the key interface between the maternal and fetal compartments and forms the primary barrier that restricts the hematogenous spread of microorganisms. Here, we utilized primary human trophoblast (PHT) cells isolated from full-term placentas and human midgestation chorionic villous explants to determine the mechanisms by which human trophoblasts restrict and respond to T...
January 9, 2018: MBio
https://www.readbyqxmd.com/read/29317419/cohort-profile-effect-of-malaria-in-early-pregnancy-on-fetal-growth-in-benin-recipal-preconceptional-cohort
#17
Manfred Accrombessi, Emmanuel Yovo, Gilles Cottrell, Gino Agbota, Agnès Gartner, Yves Martin-Prevel, Nadia Fanou-Fogny, Diane Djossinou, Jennifer Zeitlin, Nicaise Tuikue-Ndam, Florence Bodeau-Livinec, Sandrine Houzé, Nicola Jackson, Paul Ayemonna, Achille Massougbodji, Michel Cot, Nadine Fievet, Valérie Briand
PURPOSE: REtard de Croissance Intra-uterin et PALudisme (RECIPAL) is an original preconceptional cohort designed to assess the consequences of malaria during the first trimester of pregnancy, which is a poorly investigated period in Africa and during which malaria may be detrimental to the fetus. PARTICIPANTS: For this purpose, a total of 1214 women of reproductive age living in Sô-Ava and Akassato districts (south Benin) were followed up monthly from June 2014 to December 2016 until 411 of them became pregnant...
January 8, 2018: BMJ Open
https://www.readbyqxmd.com/read/29317300/mesenchymal-stem-cells-therapy-protects-fetuses-from-resorption-and-induces-th2-type-cytokines-profile-in-abortion-prone-mouse-model
#18
Amir Salek Farrokhi, Amir-Hassan Zarnani, Seyed Mohammad Moazzeni
The imbalance of Th1/Th2 cytokines is well known in recurrent spontaneous abortion (RSA) mouse model. Mesenchymal stem cells (MSCs) possess potent immunoregulatory properties that could modulate the Th1 cytokine responses in benefit of Th2 types. In this study, we aimed to analyze the local and systemic balance of Th1/Th2 cytokines following MSCs therapy. Syngeneic adipose derived MSCs were administered to abortion prone mice during the implantation window. The abortion rate was determined and IL-4, IL-6, IL-12, IL-2, IFN-γ and GM-CSF gene expression was evaluated by Real-Time-PCR in decidual and placental tissues of pregnant mice at day 13...
January 6, 2018: Transplant Immunology
https://www.readbyqxmd.com/read/29315634/mathematical-models-of-human-cerebellar-development-in-the-fetal-period
#19
Krzysztof Dudek, Marta Nowakowska-Kotas, Alicja Kędzia
The evaluation of cerebellar growth in the fetal period forms a part of a widely used examination to identify any features of abnormalities in early stages of human development. It is well known that the development of anatomical structures, including the cerebellum, does not always follow a linear model of growth. The aim of the study was to analyse a variety of mathematical models of human cerebellar development in fetal life to determine their adequacy. The study comprised 101 fetuses (48 males and 53 females) between the 15th and 28th weeks of fetal life...
January 8, 2018: Journal of Anatomy
https://www.readbyqxmd.com/read/29312622/acute-nutritional-stress-during-pregnancy-affects-placental-efficiency-fetal-growth-and-adult-glucose-homeostasis
#20
Sajida Malik, Alan Diot, Karl Morten, Eszter Dombi, Manu Vatish, C A Richard Boyd, Joanna Poulton
Exposure to maternal malnutrition impairs postnatal health. Acute nutritional stress is less clearly implicated in intrauterine programming. We studied the effects of stressing pregnant mothers on perinatal growth and adult glucose homeostasis. We compared one group ("stressed", mothers fasted for 16 hours) with controls ("unstressed"). We found that fasting stress had adverse effects on the weight of the fetuses conceived (p<0.005) and the placental efficiency (p<0.001) in stressed compared to unstressed offspring...
December 12, 2017: Oncotarget
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