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https://read.qxmd.com/read/30740741/clinical-biochemical-and-molecular-overview-of-transaldolase-deficiency-and-evaluation-of-the-endocrine-function-update-of-34-patients
#1
Monique Williams, Vassili Valayannopoulos, Ruqaiah Altassan, Wendy K Chung, Annemieke C Heijboer, Wei Teik Keng, Risto Lapatto, Patricia McClean, Margot F Mulder, Anna Tylki-Szymańska, Marie-Jose E Walenkamp, Majid Alfadhel, Hajar Alakeel, Gajja S Salomons, Wafaa Eyaid, Mirjam M C Wamelink
BACKGROUND: Transaldolase deficiency (TALDO-D) is a rare autosomal recessive inborn error of the pentose phosphate pathway. Since its first description in 2001, several case reports have been published, but there has been no comprehensive overview of phenotype, genotype, and phenotype-genotype correlation. METHODS: We performed a retrospective questionnaire and literature study of clinical, biochemical, and molecular data of 34 patients from 25 families with proven TALDO-D...
January 2019: Journal of Inherited Metabolic Disease
https://read.qxmd.com/read/30734290/exercise-initiated-during-pregnancy-in-rats-born-growth-restricted-alters-placental-mtor-and-nutrient-transporter-expression
#2
Yeukai Tm Mangwiro, James Sm Cuffe, Dayana Mahizir, Kristina Anevska, Sogand Gravina, Tania Romano, Karen M Moritz, Jessica F Briffa, Mary E Wlodek
KEY POINTS: Fetal growth is dependent on effective placental nutrient transportation, which is regulated by mTORC1 modulation of nutrient transporter expression. These transporters are dysregulated in pregnancies affected by uteroplacental insufficiency and maternal obesity. Nutrient transporters and mTOR were altered in placentae of mothers born growth restricted compared to normal birth weight dams, with maternal diet- and fetal sex-specific responses. Exercise initiated during pregnancy (PregEx) downregulated MTOR protein expression, despite an increase in mTOR activation in male associated placentae, and reduced nutrient transporter gene abundance, which was also dependent on maternal diet and fetal sex...
February 7, 2019: Journal of Physiology
https://read.qxmd.com/read/30718791/the-placental-transcriptome-in-late-gestational-hypoxia-resulting-in-murine-intrauterine-growth-restriction-parallels-increased-risk-of-adult-cardiometabolic-disease
#3
Alison Chu, David Casero, Shanthie Thamotharan, Madhuri Wadehra, Amy Cosi, Sherin U Devaskar
Intrauterine growth restriction (IUGR) enhances risk for adult onset cardiovascular disease (CVD). The mechanisms underlying IUGR are poorly understood, though inadequate blood flow and oxygen/nutrient provision are considered common endpoints. Based on evidence in humans linking IUGR to adult CVD, we hypothesized that in murine pregnancy, maternal late gestational hypoxia (LG-H) exposure resulting in IUGR would result in (1) placental transcriptome changes linked to risk for later CVD, and 2) adult phenotypes of CVD in the IUGR offspring...
February 4, 2019: Scientific Reports
https://read.qxmd.com/read/30708230/critical-time-window-of-fenvalerate-induced-fetal-intrauterine-growth-restriction-in-mice
#4
Ce Guo, Yang Yang, Meng-Xing Shi, Bo Wang, Ji-Jie Liu, De-Xiang Xu, Xiu-Hong Meng
Fenvalerate (FEN), a representative type II pyrethroid, is a widely used pyrethroid insecticide and a potential environmental contaminant. Several studies demonstrated that gestational FEN exposure induced intrauterine growth restriction (IUGR). However, the critical time window of FEN-induced fetal IUGR remains obscure. The present study aimed to identify the critical window of FEN-induced fetal IUGR. Pregnant mice were administered corn oil or FEN (20 mg/kg) by gavage daily at the early gestational stage (GD0-GD6), middle gestational stage (GD7-GD12) or late gestational stage (GD13-GD17)...
January 29, 2019: Ecotoxicology and Environmental Safety
https://read.qxmd.com/read/30693591/single-nucleotide-polymorphism-snp-based-chromosomal-microarray-analysis-provides-clues-and-insights-into-disease-mechanisms
#5
Hagit Daum, Vardiella Meiner, Nuphar Hacohen, Naama Zvi, Avital Eilat, Revital Drai-Hasid, Simcha Yagel, Shamir Zenvirt, Ayala Frumkin
BACKGROUND: Chromosomal microarray analysis (CMA) in pregnancy is the modality of choice for prenatal diagnosis of fetal malformations, diagnosing microdeletion/duplication syndromes. We demonstrate further utilities of CMA, by diagnosing monogenic disease, imprinting disorders and uniparental disomy (UPD). METHODS: We performed CMA using Affymetrix CytoScan array for 6995 pregnancies for all indications since November 2013 in a tertiary referral hospital. RESULTS: Four fetuses had an unforeseen CMA result, shedding light on the clinical presentation...
January 28, 2019: Ultrasound in Obstetrics & Gynecology
https://read.qxmd.com/read/30684071/obstetrical-complications-of-thin-endometrium-in-assisted-reproductive-technologies-a-systematic-review
#6
REVIEW
Youssef Mouhayar, Jason M Franasiak, Fady I Sharara
PURPOSE: The aim of the systematic review is to describe the obstetrical complications associated with pregnancies in the context of a thin endometrial lining. METHODS: Systematic review of the literature. RESULTS: Patients who conceive in the setting of a thin endometrium have a significantly increased risk of early pregnancy loss, namely miscarriage and ectopic pregnancy. These patients also have a twofold increase in low birth weight and preterm delivery, as well as a significantly higher risk of intrauterine growth restriction and composite adverse perinatal outcomes...
January 25, 2019: Journal of Assisted Reproduction and Genetics
https://read.qxmd.com/read/30666167/timing-of-initiation-of-low-molecular-weight-heparin-administration-in-pregnant-women-with-antiphospholipid-syndrome-a-randomized-clinical-trial-of-efficacy-and-safety
#7
Mohamed Ibrahem Eid, Mohamed Sayed Abdelhafez, Waleed El-Refaie, Ahmed A El-Zayadi, Khaled Samir, Mahmoud Mohamed Abdelrazik, Mahmoud Thabet, Alaa Wageh, Emad Ahmed Fyala, Yasser Abdeldayem, Ahmed Badawy
Objective: We aimed to evaluate the effect of different timing of initiation of low-molecular-weight heparin (LMWH) administration on the pregnancy outcomes in women with antiphospholipid syndrome (APS). Materials and methods: A randomized controlled study was conducted on women with obstetrical APS. All participants were randomly divided at documentation of positive pregnancy test into two groups; early initiation group in which LMWH therapy was started once positive pregnancy test was established (in the fifth week of gestation), and later initiation group in which LMWH therapy was started after sonographic confirmation of fetal cardiac pulsation (in the seventh week of gestation)...
2019: International Journal of Women's Health
https://read.qxmd.com/read/30529234/classification-of-fetal-resilience-to-porcine-reproductive-and-respiratory-syndrome-prrs-based-on-temporal-viral-load-in-late-gestation-maternal-tissues-and-fetuses
#8
Carolina M Malgarin, Roman Nosach, Predrag Novakovic, Muhammad Suleman, Andrea Ladinig, Susan E Detmer, Daniel J MacPhee, John C S Harding
Although porcine reproductive and respiratory syndrome virus (PRRSV) readily crosses the maternal fetal interface (MFI) in third trimester, fetal resilience varies within litters. The aim of this study was to characterize PRRSV-2 concentration in MFI and fetuses at five time points after experimental inoculation of late gestation gilts and use this information to classify potentially resistant, resilient and susceptible fetuses. The secondary objective was to verify the relationship between PRRS viral load and intrauterine growth retardation (IUGR)...
December 5, 2018: Virus Research
https://read.qxmd.com/read/30498368/pena-shokeir-syndrome-current-management-strategies-and-palliative-care
#9
REVIEW
Sumaiya Adam, Melantha Coetzee, Engela Magdalena Honey
Pena-Shokeir syndrome (PSS) type 1, also known as fetal akinesia deformation sequence, is a rare genetic syndrome that almost always results in intrauterine or early neonatal death. It is characterized by markedly decreased fetal movements, intrauterine growth restriction, joint contractures, short umbilical cord, and features of pulmonary hypoplasia. Antenatal diagnosis can be difficult. Ultrasound features are varied and may overlap with those of Trisomy 18. The poor prognosis of PSS is due to pulmonary hypoplasia, which is an important feature that distinguishes PSS from arthrogryposis multiplex congenital without pulmonary hypoplasia, which has a better prognosis...
2018: Application of Clinical Genetics
https://read.qxmd.com/read/30471197/impact-of-intrauterine-growth-restriction-on-the-capillarisation-of-the-early-postnatal-rat-heart
#10
Megan R Sutherland, Ka Wing Ng, Jörg D Drenckhahn, Mary E Wlodek, Mary Jane Black
Capillarisation plays a key role in the growth of the developing heart. We therefore hypothesised that impaired heart development following intrauterine growth restriction (IUGR) may arise from inadequate myocardial capillary growth. The aims of the study were to examine the effect of IUGR on the growth and diffusion radius of intramyocardial capillaries in rats at postnatal day 1. Uteroplacental insufficiency was induced in rats in late gestation (E18, term=E22) by bilateral uterine artery and vein ligation (Restricted offspring n=12; 6 males and 6 females); offspring from sham-operated dams were used as Controls (n=10; 5 males and 5 females)...
November 24, 2018: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://read.qxmd.com/read/30459083/preadipocyte-factor-1-in-maternal-umbilical-cord-serum-and-breast-milk-the-impact-of-fetal-growth
#11
Despina D Briana, Aimilia-Eirini Papathanasiou, Stavroula Gavrili, Sophia Georgantzi, Antonios Marmarinos, Christos Christou, Konstantinos Voulgaris, Dimitrios Gourgiotis, Ariadne Malamitsi-Puchner
BACKGROUND/OBJECTIVE: To study the concentrations of preadipocyte factor-1 (Pref-1) -an inhibitor of adipocyte differentiation, implicated in adipose tissue metabolism, late metabolic disorders and fetal growth- in maternal and umbilical cord serum, as well as maternal milk and correlate above concentrations with intrauterine growth and other perinatal parameters. MATERIAL AND METHODS: Pref-1 concentrations were determined by ELISA in antepartum maternal and umbilical cord serum, as well as day 3 to 4 postpartum breast milk, deriving from 80 women, who delivered 40 appropriate (AGA), 20 large for gestational age (LGA) and 20 intrauterine growth restricted (IUGR) neonates, classified by the use of customized birth-weight standards adjusted for significant determinants of fetal growth...
November 17, 2018: Cytokine
https://read.qxmd.com/read/30408071/impact-of-vitamin-d-and-vitamin-d-receptor-on-the-trophoblast-survival-capacity-in-preeclampsia
#12
Martina Hutabarat, Noroyono Wibowo, Barbara Obermayer-Pietsch, Berthold Huppertz
BACKGROUND: Preeclampsia and intra-uterine growth restriction (IUGR) are major health problems during pregnancy affecting both mother and child. Defective placental development and failure of trophoblast differentiation during pregnancy are important aspects in the pathogenesis of both syndromes. Recent studies have shown that autophagy is involved in the trophoblast survival capacity. As vitamin D has a central role in many cellular processes, we studied the relation of vitamin D and autophagy in those processes of preeclampsia and IUGR...
2018: PloS One
https://read.qxmd.com/read/30390249/skeletal-muscle-damage-in-intrauterine-growth-restriction
#13
Leonard Năstase, Dragos Cretoiu, Silvia Maria Stoicescu
Intrauterine growth restriction (IUGR) represents a rate of fetal growth that is less than average for the population and the growth potential of a specific infant. IUGR produces infants who are small for gestational age (SGA) but also appropriate for gestational age (AGA). It refers to growth less than expected for gestational age and is most often under 10th percentiles for age. It develops during the late second and third trimesters of gestation. The etiology of IUGR is multifactorial. One of the most important factors which leads to IUGR is a decrease of nutrients and oxygen delivered to the fetus by the placenta...
2018: Advances in Experimental Medicine and Biology
https://read.qxmd.com/read/30335151/highly-sensitive-and-specific-zika-virus-serological-assays-using-a-magnetic-modulation-biosensing-system
#14
Yehudit Michelson, Yaniv Lustig, Shira Avivi, Eli Schwartz, Amos Danielli
Background: Zika virus has created global alarm as it has been associated with catastrophic fetal abnormalities, including microcephaly, spontaneous abortion, and intrauterine growth restriction. Current serological assays that detect antiviral antibodies suffer from low sensitivity and high cross-reactivity among different flaviviruses. Methods: Here, utilizing a novel Magnetic Modulation Biosensing (MMB) system and the Zika non-structural 1 (NS1) protein, we show highly sensitive and specific Zika serological assays...
October 18, 2018: Journal of Infectious Diseases
https://read.qxmd.com/read/30282823/arginine-vasopressin-infusion-is-sufficient-to-model-clinical-features-of-preeclampsia-in-mice
#15
Jeremy A Sandgren, Guorui Deng, Danny W Linggonegoro, Sabrina M Scroggins, Katherine J Perschbacher, Anand R Nair, Taryn E Nishimura, Shao Yang Zhang, Larry N Agbor, Jing Wu, Henry L Keen, Meghan C Naber, Nicole A Pearson, Kathy A Zimmerman, Robert M Weiss, Noelle C Bowdler, Yuriy M Usachev, Donna A Santillan, Matthew J Potthoff, Gary L Pierce, Katherine N Gibson-Corley, Curt D Sigmund, Mark K Santillan, Justin L Grobe
Copeptin, a marker of arginine vasopressin (AVP) secretion, is elevated throughout human pregnancies complicated by preeclampsia (PE), and AVP infusion throughout gestation is sufficient to induce the major phenotypes of PE in mice. Thus, we hypothesized a role for AVP in the pathogenesis of PE. AVP infusion into pregnant C57BL/6J mice resulted in hypertension, renal glomerular endotheliosis, intrauterine growth restriction, decreased placental growth factor (PGF), altered placental morphology, placental oxidative stress, and placental gene expression consistent with human PE...
October 4, 2018: JCI Insight
https://read.qxmd.com/read/30248445/maternal-perinatal-calorie-restriction-temporally-regulates-the-hepatic-autophagy-and-redox-status-in-male-rat
#16
Asokan Devarajan, Namakkal S Rajasekaran, Claire Valburg, Ekambaram Ganapathy, Snehal Bindra, William A Freije
Intrauterine growth restriction leads to adult obesity, cardiovascular disease, and non-alcoholic fatty liver disease/steatohepatitis. Animal models have shown that combined intrauterine and early postnatal calorie restriction (IPCR) ameliorates these sequelae in adult life. The mechanism by which IPCR protects against adult onset disease is not understood. Autophagy, a lysosomal degradative process, recycles cellular constituents and eliminates damaged organelles, proteins, and oxidants. In this study, we hypothesized that IPCR could regulate autophagy in the liver of male rat offspring...
September 21, 2018: Free Radical Biology & Medicine
https://read.qxmd.com/read/30177078/urinary-congophilia-in-preeclampsia-experience-from-a-rural-tertiary-care-hospital-in-india
#17
Chandrakala Nagarajappa, Sheela Shikaripur Rangappa, Ravishankar Suryanarayana, Sharath Balakrishna
OBJECTIVES: To evaluate the presence of urinary congophilia amongIndian patients with preeclampsia. STUDY DESIGN: A prospective case control study in which congophilia of urine samples from preeclamptic pregnant women (n = 62) and normotensive pregnant women (n = 65) was compared by using Congo Red Dot Blot assay. MAIN OUTCOME MEASURES: Presence of urinary congophilia. RESULTS: Mean percentage of Congo Red Retention was 37...
July 2018: Pregnancy Hypertension
https://read.qxmd.com/read/30124960/iugr-is-associated-with-marked-hyperphosphorylation-of-decidual-and-maternal-plasma-igfbp-1
#18
Madhulika B Gupta, Majida Abu Shehab, Karen Nygard, Kyle Biggar, Sahil S Singal, Nanette Santoro, Theresa L Powell, Thomas Jansson
Context: The mechanisms underpinning intrauterine growth restriction (IUGR) due to placental insufficiency remain poorly understood, no specific treatment is available, and clinically useful biomarkers for early detection are lacking. Objective: We hypothesised that human IUGR is associated with inhibition of mechanistic target of rapamycin (mTOR) and activation of the amino acid response (AAR) signaling, increased protein kinase CK2 activity, and increased IGFBP-1 expression and phosphorylation in decidua, and that maternal plasma IGFBP-1 hyperphosphorylation in first trimester predicts later development of IUGR...
August 16, 2018: Journal of Clinical Endocrinology and Metabolism
https://read.qxmd.com/read/30124804/chronic-adrenergic-signaling-causes-abnormal-rna-expression-of-proliferative-genes-in-fetal-sheep-islets
#19
Amy C Kelly, Christopher A Bidwell, Xiaochuan Chen, Antoni R Macko, Miranda J Anderson, Sean W Limesand
Intrauterine growth restriction (IUGR) increases the risk of developing diabetes in later life, which indicates developmental programming of islets. IUGR fetuses with placental insufficiency develop hypoxemia, elevating epinephrine and norepinephrine (NE) concentrations throughout late gestation. To isolate the programming effects of chronically elevated catecholamines, NE was continuously infused into normally grown sheep fetuses for 7 days. High plasma NE concentrations suppress insulin, but after the NE infusion was terminated, persistent hypersecretion of insulin occurred...
October 1, 2018: Endocrinology
https://read.qxmd.com/read/30095996/cardiac-myocyte-proliferation-and-maturation-near-term-is-inhibited-by-early-gestation-maternal-testosterone-exposure
#20
Sonnet S Jonker, Samantha Louey, Charles E Roselli
Polycystic ovary syndrome (PCOS) is a complex and common disorder in women, and those affected experience an increased burden of cardiovascular disease. It is an intergenerational syndrome, as affected women with high androgen levels during pregnancy "program" fetal development, leading to a similar phenotype in their female offspring. The effect of excess maternal testosterone exposure on fetal cardiomyocyte growth and maturation is unknown. METHODS Pregnant ewes received biweekly injections of vehicle (Control) or 100 mg testosterone propionate between 30-59 days of gestation (dGA; Early T) or 60-90 dGA (Late T)...
August 10, 2018: American Journal of Physiology. Heart and Circulatory Physiology
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