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https://www.readbyqxmd.com/read/28628106/variants-in-the-fetal-genome-near-flt1-are-associated-with-risk-of-preeclampsia
#1
Ralph McGinnis, Valgerdur Steinthorsdottir, Nicholas O Williams, Gudmar Thorleifsson, Scott Shooter, Sigrun Hjartardottir, Suzannah Bumpstead, Lilja Stefansdottir, Lucy Hildyard, Jon K Sigurdsson, John P Kemp, Gabriela B Silva, Liv Cecilie V Thomsen, Tiina Jääskeläinen, Eero Kajantie, Sally Chappell, Noor Kalsheker, Ashley Moffett, Susan Hiby, Wai Kwong Lee, Sandosh Padmanabhan, Nigel A B Simpson, Vivien A Dolby, Eleonora Staines-Urias, Stephanie M Engel, Anita Haugan, Lill Trogstad, Gulnara Svyatova, Nodira Zakhidova, Dilbar Najmutdinova, Anna F Dominiczak, Håkon K Gjessing, Juan P Casas, Frank Dudbridge, James J Walker, Fiona Broughton Pipkin, Unnur Thorsteinsdottir, Reynir T Geirsson, Debbie A Lawlor, Ann-Charlotte Iversen, Per Magnus, Hannele Laivuori, Kari Stefansson, Linda Morgan
Preeclampsia, which affects approximately 5% of pregnancies, is a leading cause of maternal and perinatal death. The causes of preeclampsia remain unclear, but there is evidence for inherited susceptibility. Genome-wide association studies (GWAS) have not identified maternal sequence variants of genome-wide significance that replicate in independent data sets. We report the first GWAS of offspring from preeclamptic pregnancies and discovery of the first genome-wide significant susceptibility locus (rs4769613; P = 5...
June 19, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28617969/conditionally-targeted-deletion-of-psen1-leads-to-diastolic-heart-dysfunction
#2
Xiao-Wei Song, Qing-Ning Yuan, Ying Tang, Mi Cao, Ya-Feng Shen, Zhen-Yu Zeng, Chang-Hai Lei, SongHua Li, Xian-Xian Zhao, Yong-Ji Yang
Recently, PSEN1 has been reported to have mutations in dilated cardiomyopathy pedigrees. However, the function and mechanism of PSEN1 in cardiomyopathy remains unresolved. Here, we established 4 types of genetically modified mice to determine the function of PSEN1 in cardiac development and pathology. PSEN1 null mutation resulted in perinatal death, retardation of heart growth, ventricular dilatation, septum defects, and valvular thickening. PSEN1 knockout in adults led to decreased muscle fibers, widened sarcomere Z lines and reduced lengths of sarcomeres in cardiomyocytes...
June 15, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28593770/-retrospective-analysis-of-monochorionic-twin-pregnancies-born-in-the-institute-for-the-care-of%C3%A2-mother-and-child-between-2012-2015
#3
K Běhávková, L Krofta, K Macková, J Vojtěch, L Hašlík, R Pock, L Hympánová, M Kučerová, H Heřman, Z Straňák, J Feyereisl
OBJECTIVE: The purpose of this study was to describe monochorionic twin pregnancies and their complications, born between 24th and 37th week of gestation in the Institute for the Care of Mother and Child in years 2012-2015. DESIGN: Retrospective cohort. SETTING: The Institute for the Care of Mother and Child, Praha. METHODS: From 2012 to 2015 we observed 177 monochorionic twin pregnancies from which two or one viable fetuses were born, or both fetuses died in utero...
2017: Ceská Gynekologie
https://www.readbyqxmd.com/read/28585848/-ultrasound-diagnosis-of-fetal-inflammatory-response-syndrome-in-women-with-preterm-premature-rupture-of-membrane
#4
R Špaček, I Musilová, K Magdová, O Šimetka, M Kacerovský
OBJECTIVE: The aim of this review is to analyze the existing possibilities of using ultrasound in the diagnosis of the fetal inflammatory response. DESIGN: Review. SETTINGS: Gynekologicko-porodnická klinika, Fakultní nemocnice Ostrava. METHODS: Preterm delivery is defined as a delivery before completed 37 weeks of gestation. Approximately one-thirdof these cases is associated with preterm premature rupture of membranes...
2017: Ceská Gynekologie
https://www.readbyqxmd.com/read/28579623/reference-curve-for-the-mean-uterine-artery-pulsatility-index-in-singleton-pregnancies
#5
Alexander Weichert, Andreas Hagen, Michael Tchirikov, Ilka B Fuchs, Wolfgang Henrich, Michael Entezami
INTRODUCTION: Doppler sonography of the uterine artery (UA) is done to monitor pregnancies, because the detected flow patterns are useful to draw inferences about possible disorders of trophoblast invasion. Increased resistance in the UA is associated with an increased risk of preeclampsia and/or intrauterine growth restriction (IUGR) and perinatal mortality. In the absence of standardized figures, the normal ranges of the various available reference curves sometimes differ quite substantially from one another...
May 2017: Geburtshilfe und Frauenheilkunde
https://www.readbyqxmd.com/read/28574590/pregnancy-outcomes-after-liver-transplantation-in-finland
#6
Mirjami Mattila, Helena Kemppainen, Helena Isoniemi, Päivi Polo-Kantola
Pregnancy after liver transplantation (LT) is possible but associated with increased risk of obstetrical complications. We report here for the first time the pregnancy outcomes after LT in Finland MATERIAL AND METHODS: All of the 25 pregnancies ending in deliveries after LT in Finland in 1998-2015 were analyzed. The data were collected from the mothers' medical records. The main outcome measures included pregnancy complications and the mode of the delivery. Neonatal outcome measures were birth weight, 5 minute Apgar score and umbilical artery pH RESULTS: There were 26 infants born...
June 2, 2017: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/28574580/echographic-features-and-perinatal-outcomes-in-fetuses-with-congenital-absence-of-ductus-venosus
#7
Raquel Garcia-Delgado, Raquel Garcia-Rodriguez, Azahar Romero Requejo, Marta Armas Roca, Luciana Obreros Zegarra, Margarita Medina Castellano, Jose A Garcia Hernandez
The purpose of this study was to describe the echographic features and perinatal outcomes of fetuses with absence of ductus venosus (ADV) MATERIAL AND METHODS: Retrospective review of 10 cases with ADV diagnosed by prenatal ultrasonography between January 2014 and February 2016 at a single referral center. Prenatal findings, umbilical shunting type, perinatal outcomes, and autopsy reports were reviewed RESULTS: A total of 11 491 fetuses underwent a first and second trimester screening during the study period...
June 2, 2017: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/28561938/prenatal-diagnosis-of-four-vessel-umbilical-cord-with-supernumerary-vein-varix-a-case-report-and-literature-review
#8
Ting Lei, Hong-Ning Xie, Jie-Ling Feng
Four-vessel umbilical cord with two arteries and two veins, and fetal intra-abdominal umbilical vein varix are rare fetal vascular pathologies, associated with congenital anomalies and an adverse perinatal outcome, respectively. We report a case of a healthy male neonate born at a gestational age of 38 weeks, five days, after prenatal sonographic diagnosis of a four-vessel umbilical cord with a supernumerary vein varix. To the best of our knowledge, this is the first case with this combination.
May 31, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28561896/creating-a-placental-inflammatory-composite-index-that-has-a-high-prognostic-relevance-to-child-morbidity
#9
Yan Chen, Lile Zou, Yanjun Zhao, Ting Wu, Jiangfeng Ye, Huijuan Zhang, Jun Zhang
AIM: Selecting pathologic measures of placental inflammation that affect pregnancy and childhood health is largely empirical. We aimed to systematically select several core inflammation-related placental measures to construct a novel placental inflammatory evaluation criterion with a high prognostic relevance to child morbidity. METHODS: We used data from the US Collaborative Perinatal Project (1959-1976), a longitudinal birth cohort study that recruited women during pregnancy and followed the children until 7 years of age...
May 31, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28561226/neonatal-arterial-ischemic-stroke-a-hospital-based-active-surveillance-study-in-germany
#10
Mathias Klemme, Lucia Gerstl, Raphael Weinberger, Martin Olivieri, Andreas Flemmer, Rüdiger von Kries, Ursula Felderhoff-Müser, Mark Dzietko
Background Neonatal arterial ischemic stroke (NAIS) accounts for substantial long term sequelae in children. The potential effectiveness of neuroprotective therapies needs to be evaluated in appropriate studies with sufficient power. Objective To identify annual number of NAIS cases in Germany potentially eligible for randomized interventional trials. Methods Active surveillance for NAIS in 345 pediatric hospitals with questionnaire based validation of reported cases. Results Incidence of NAIS (7.1/100000 births) was in the range of other population-based studies...
May 2017: Klinische Pädiatrie
https://www.readbyqxmd.com/read/28561211/-increasing-consumption-of-crystal-meth-in-saxony-and-its-risks-for-mother-and-child-experiences-at-a-level-i-perinatal-center-from-a-pediatric-viewpoint
#11
Jürgen Dinger, Nicole Näther, Pauline Wimberger, Ulrich S Zimmermann, Jochen Schmitt, Jörg Reichert, Mario Rüdiger
Over the past several years, the number of first-time users of methamphetamine considerably increased within the Free State of Saxony. This number also, and especially, includes women of child-bearing age and young mothers. A supportive intervention aimed at reducing the effects of drug abuse should begin in a timely way - during pregnancy at latest, but better before it. To develop an optimal care protocol for both the mother and her child, more knowledge regarding the personal conditions of the women as well as the specific features of later child development after prenatal methamphetamine exposure (PME) is vital...
April 2017: Zeitschrift Für Geburtshilfe und Neonatologie
https://www.readbyqxmd.com/read/28555324/low-maternal-circulating-levels-of-vitamin-d-as-potential-determinant-in-the-development-of-gestational-diabetes-mellitus
#12
REVIEW
S Triunfo, A Lanzone, P G Lindqvist
Gestational diabetes mellitus (GDM), defined as any glucose intolerance with the onset or first recognition during pregnancy, is characterized by rising incidence, fostered by the worldwide increase of pathological nutritional status from young age. Clinical research has intended to identify potential risk factors, suggested improvements in screening strategies, and recommended the combination between promotion of an appropriate lifestyle before and during pregnancy and selected therapeutic approaches. Preventing pathological hyperglycemia could have several benefits, ranging from clinical side (reduction in the risk of adverse perinatal and long-term sequelae) to financial side (cost reduction to healthcare systems)...
May 29, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28549467/the-prediction-diagnosis-and-management-of-complications-in-monochorionic-twin-pregnancies-the-ommit-optimal-management-of-monochorionic-twins-study
#13
Fiona L Mackie, R Katie Morris, Mark D Kilby
BACKGROUND: Monochorionic twin pregnancies are at increased risk of complications due to sharing a single placenta and potentially developing unbalanced vascular anastomoses. Complications include twin-twin transfusion syndrome (TTTS) which affects 10-15% monochorionic twins, and if untreated has a 70-90% perinatal loss rate. We are currently unable to predict which twins will develop complications or to what severity. We have previously shown differences in angiogenic and placental growth factors in maternal blood in pregnancies complicated by TTTS compared to twin pregnancies not complicated by TTTS but matched for gestation...
May 26, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/28543059/natural-pathology-of-the-captive-chimpanzee-pan-troglodytes-a-35-year-review
#14
REVIEW
Shyamesh Kumar, Hannah Laurence, Michael A Owston, R Mark Sharp, Priscilla Williams, Robert E Lanford, Gene B Hubbard, Edward J Dick
We present the spontaneous pathological lesions identified as a result of necropsy or biopsy for 245 chimpanzees (Pan troglodytes) over a 35-year period. A review of the pathology database was performed for all diagnoses on chimpanzees from 1980 to 2014. All morphologic diagnoses, associated system, organ, etiology, and demographic information were reviewed and analyzed. Cardiomyopathy was the most frequent lesion observed followed by hemosiderosis, hyperplasia, nematodiasis, edema, and hemorrhage. The most frequently affected systems were the gastrointestinal, cardiovascular, urogenital, respiratory, and lymphatic/hematopoietic systems...
May 23, 2017: Journal of Medical Primatology
https://www.readbyqxmd.com/read/28529058/customized-and-non-customized-live-born-birth-weight-curves-of-single-and-uncomplicated-pregnancies-from-the-burgundy-perinatal-network-part-i%C3%A2-%C3%A2-methodology
#15
T Rousseau, O Durand-Maison, C Labruere-Chazal, F Tabard, A Jebrane, O Martz, E Benzenine, J Cottenet, P Sagot
OBJECTIVES: To establish non-customized and customized birth-weight curves of single and uncomplicated pregnancies according to gestational age. MATERIALS AND METHODS: We used data for 64,173 mother-infants pairs from the Burgundy perinatal network database (France) over the period 2005-2013. A validated procedure was used to link mothers with their newborns, and maternal and fetal pathologies likely to affect birth weight were excluded. Multiple regression analysis with covariate selection was used to build a customized growth curve with maternal and fetal parameters...
May 19, 2017: Journal of gynecology obstetrics and human reproduction
https://www.readbyqxmd.com/read/28501280/evaluation-of-placental-vascularization-by-three-dimensional-ultrasound-examination-in-second-and-third-trimester-of-pregnancies-complicated-by-chronic-hypertension-gestational-hypertension-or-pre-eclampsia
#16
Andrea Surányi, Ábel Altorjay, László Kaiser, Tibor Nyári, Gábor Németh
OBJECTIVES: The purpose of this study was to assess three-dimensional placental power Doppler indices in second and third trimester of pregnancies complicated by chronic-, gestational hypertension or pre-eclampsia. METHODS: We analyzed 226 pregnancies prospectively measuring three-dimensional placental power Doppler indices (vascularization index, flow index, vascularization flow index) in cases of normal blood pressure (N=109), chronic hypertension (N=43), gestational hypertension (N=57) and pre-eclampsia (N=17)...
April 2017: Pregnancy Hypertension
https://www.readbyqxmd.com/read/28497716/polyglucosan-bodies-in-placental-extravillious-trophoblast-for-the-diagnosis-of-fatal-perinatal-neuromuscular-type-glycogen-storage-disease-type-iv
#17
Weiming Yu, Marie-Anne Brundler, James R Wright
The fatal infantile neuromuscular type is the most severe form of glycogen storage disease type IV. We report a case of a 22-day-old female neonate born at 34 weeks gestation with polyhyramnios, fetal hydrops, and severe hypotonia. Placental examination revealed numerous periodic acid schiff (PAS)-positive diastase-resistant polyglucosan bodies in the cytoplasm of extravillous trophoblast predominantly in the placental basal plate. Muscle biopsy and autopsy findings supported a diagnosis of neuromuscular-type glycogen storage disease IV with extensive involvement of skeletal muscle, heart, and liver...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28495235/prenatal-detection-of-megacystis-not-always-an-adverse-prognostic-factor-experience-in-25-consecutive-cases-in-a-tertiary-referral-center-with-complete-neonatal-outcome-and-follow-up
#18
Marcella Pellegrino, Daniela Visconti, Vincenzo Davide Catania, Luisa D'Oria, Carlo Manzoni, Maria Giovanna Grella, Alessandro Caruso, Lucia Masini, Giuseppe Noia
INTRODUCTION: Megacystis is a condition of abnormal enlarged fetal bladder for gestational age, which is usually associated with urological malformations that may constitute a life-threatening condition for the baby. OBJECTIVE: The purpose of this study was to assess the prognostic and etiological criteria of fetal megacystis and to describe the neonatal outcome in a large series collected in a single tertiary center. STUDY DESIGN: A retrospective observational study was conducted between 2008 and 2012...
April 14, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28491154/spuriously-aggressive-features-of-a-lactating-adenoma-prompting-repeated-biopsies
#19
Janet Szabo, Dairon Garcia, Natalie Ciomek, Laurie Margolies
We present an atypical presentation of a common pregnancy-related breast mass, a lactating adenoma with imaging and pathologic correlation. The patient presented with a rapidly enlarging left breast mass associated with skin changes and severe pain in the perinatal period. Core biopsies were considered discordant, and the patient went on to surgical excision for the definitive diagnosis of an infarcted lactating adenoma. The symptoms of infarction may obscure the diagnosis of common entities and result in additional evaluation...
June 2017: Radiology case reports
https://www.readbyqxmd.com/read/28486224/long-term-neuropathological-changes-associated-with-cerebral-palsy-in-a-nonhuman-primate-model-of-hypoxic-ischemic-encephalopathy
#20
Ryan M McAdams, Bobbi Fleiss, Christopher Traudt, Leslie Schwendimann, Jessica M Snyder, Robin L Haynes, Niranjana Natarajan, Pierre Gressens, Sandra E Juul
BACKGROUND: Cerebral palsy (CP) is the most common motor disability in childhood, with a worldwide prevalence of 1.5-4/1,000 live births. Hypoxic-ischemic encephalopathy (HIE) contributes to the burden of CP, but the long-term neuropathological findings of this association remain limited. METHODOLOGY: Thirty-four term Macaca nemestrina macaques were included in this long-term neuropathological study: 9 control animals delivered by cesarean section and 25 animals with perinatal asphyxia delivered by cesarean section after 15-18 min of umbilical cord occlusion (UCO)...
May 10, 2017: Developmental Neuroscience
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