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intrauterine growth retardation

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https://www.readbyqxmd.com/read/29326857/role-of-color-doppler-flowmetry-in-prediction-of-intrauterine-growth-retardation-in-high-risk-pregnancy
#1
Sachin Khanduri, Saakshi Chhabra, Santosh Yadav, Tushar Sabharwal, Mriganki Chaudhary, Tarim Usmani, Aakshit Goyal, Hritik Sharma
OBJECTIVE: To evaluate the usefulness of Color Doppler flowmetry in the prediction of intrauterine growth restriction (IUGR) in high-risk pregnancies. MATERIALS AND METHOD: A total of 62 high-risk pregnant women underwent Color Doppler flowmetric umbilical artery pulsatility index (PI), resistive index (RI) and systolic/diastolic (S/D) ratio, middle cerebral artery PI, RI and S/D ratio, Ductus venosus S-wave/isovolumetric A-wave index (SIA) and vertebral artery RI at 23-27 weeks, 28-32 weeks and 32-36 weeks of their pregnancy...
November 8, 2017: Curēus
https://www.readbyqxmd.com/read/29306561/insulin-resistance-depends-on-gh-counter-regulation-in-two-syndromes-of-short-stature
#2
Jaime Guevara-Aguirre, Alexandra Guevara, Marisol Bahamonde
Specific phenotypic features of subjects affected with genetic syndromes depend on peculiarities of expression of each discrete mutation and on extent of its divergence from normal physiology. In this context, and when studying the GH/IGF-I axis of subjects with two different syndromes that include severe short stature (SSS), we noticed different metabolic phenotypes in each cohort. Subjects with Laron syndrome (LS), who have GH insensitivity (GHI), display obesity, increased body fat, enhanced insulin sensitivity and diminished incidence of diabetes mellitus...
December 20, 2017: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/29304374/biallelic-mutations-in-fut8-cause-a-congenital-disorder-of-glycosylation-with-defective-fucosylation
#3
Bobby G Ng, Gege Xu, Nandini Chandy, Joan Steyermark, Deepali N Shinde, Kelly Radtke, Kimiyo Raymond, Carlito B Lebrilla, Ali AlAsmari, Sharon F Suchy, Zöe Powis, Eissa Ali Faqeih, Susan A Berry, David F Kronn, Hudson H Freeze
Fucosyltransferase 8 (FUT8) encodes a Golgi-localized α1,6 fucosyltransferase that is essential for transferring the monosaccharide fucose into N-linked glycoproteins, a process known as "core fucosylation." Here we describe three unrelated individuals, who presented with intrauterine growth retardation, severe developmental and growth delays with shortened limbs, neurological impairments, and respiratory complications. Each underwent whole-exome sequencing and was found to carry pathogenic variants in FUT8...
January 4, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29298282/the-effects-of-growth-hormone-therapy-on-the-somatic-development-of-a-group-of-polish-children-with-silver-russell-syndrome
#4
Magdalena Sienko, Elżbieta Petriczko, Stanislaw Zajaczek, Agata Zygmunt-Gorska, Jerzy Starzyk, Alicja Korpysz, Jan Petriczko, Alicja Walczak, Mieczysław Walczak
OBJECTIVE: Silver-Russell Syndrome is both clinically and genetically a heterogeneous syndrome. Among the most important dysmorphic features of this condition are: a triangular shaped face with a small mandible, a prominent frontal eminence, a thin vermilion border with downward-pointing lip corners, clino- and brachydactyly of the 5th fingers as well as body asymmetry. The most well-known genetic mutations in this syndrome are: the 11p15 epimutation (20-60% patients) and the maternal uniparental chromosome 7 disomy present in 7% to 15% of patients...
December 4, 2017: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/29278735/expanding-the-fanco-rad51c-associated-phenotype-cleft-lip-and-palate-and-lobar-holoprosencephaly-two-rare-findings-in-fanconi-anemia
#5
Adeline Jacquinet, Lindsay Brown, Jessica Sawkins, Pengfei Liu, Denise Pugash, Margot I Van Allen, Millan S Patel
Fanconi anemia is a rare chromosome instability disorder with a highly variable phenotype. In the antenatal and neonatal periods, the diagnosis is usually suggested by the presence of typical congenital abnormalities such as intrauterine growth retardation, microcephaly and radial ray defects. We report a newborn female with a prenatal diagnosis of Fanconi anemia, complementation group O (FANCO). Antenatal ultrasounds identified symmetrical intrauterine growth retardation, complex heart defect as well as brain anomalies, overlapping fingers and cleft lip and palate...
December 23, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29262476/-short-stature-optic-nerve-atrophy-and-pelger-hu%C3%A3-t-anomaly-syndrome-with-antibody-immunodeficiency-and-aplastic-anemia-a-case-report-and-literature-review
#6
T Y He, N Zhang, Y Xia, Y Luo, C R Li, J Yang
Objective: To investigate the clinical features and genetic characteristics of cases with NBAS gene defects. Method: Characteristics of clinical materials, immunological data and gene mutation of the first case in China with NBAS gene mutation were retrospectively analyzed. The related literature was searched by using search terms'NBAS'. Result: A 2-year-four-month old girl, was admitted due to 'fever and pallor for one day'. There was an intrauterine growth retardation at her fetal stage. Since her birth, she had suffered from recurrent infections and development delay was accompanied by persistent liver dysfunction...
December 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29249625/genetic-disorders-of-gh-action-pathway
#7
Horacio M Domené, Gustavo Fierro-Carrión
While insensitivity to GH (GHI) is characterized by low IGF-I levels, normal or elevated GH levels, and lack of IGF-I response to GH treatment, IGF-I resistance is characterized by elevated IGF-I levels with normal/high GH levels. Several genetic defects are responsible for impairment of GH and IGF-I actions resulting in short stature that could affect intrauterine growth or be present in the postnatal period. The genetic defects affecting GH and/or IGF-I action can be divided into five different groups: GH insensitivity by defects affecting the GH receptor (GHR), the intracellular GH signaling pathway (STAT5B, STAT3, IKBKB, IL2RG, PIK3R1), the synthesis of insulin-like growth factors (IGF1, IGF2), the transport/bioavailability of IGFs (IGFALS, PAPPA2), and defects affecting IGF-I sensitivity (IGF1R)...
December 12, 2017: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/29241929/fertility-outcomes-following-pelvic-embolization-in-women-with-acquired-uterine-arteriovenous-malformation
#8
Cheng-Yu Ho, Kok-Min Seow, Lee-Wen Huang, Yieh-Loong Tsai
OBJECTIVE: Acquired uterine arteriovenous malformation (UAVM) is a rare, life-threatening disease. Angiography with uterine arterial embolization (UAE) is the diagnostic tool and a choice of fertility-sparing treatment. Here, we present a series of five successful pregnancies after embolization of UAVM. CASE REPORTS: Three reproductive aged women were treated for UAVM, resulting in five successful pregnancies. Their past history suggested that three cases had had previous uterine procedures, including second trimester abortion and elective dilatation and curettage...
December 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29238724/dna-damage-as-a-driver-for-growth-delay-chromosome-instability-syndromes-with-intrauterine-growth-retardation
#9
REVIEW
Benilde García-de Teresa, Mariana Hernández-Gómez, Sara Frías
DNA is constantly exposed to endogenous and exogenous mutagenic stimuli that are capable of producing diverse lesions. In order to protect the integrity of the genetic material, a wide array of DNA repair systems that can target each specific lesion has evolved. Despite the availability of several repair pathways, a common general program known as the DNA damage response (DDR) is stimulated to promote lesion detection, signaling, and repair in order to maintain genetic integrity. The genes that participate in these pathways are subject to mutation; a loss in their function would result in impaired DNA repair and genomic instability...
2017: BioMed Research International
https://www.readbyqxmd.com/read/29221193/steroidogenic-factor-1-hypermethylation-in-maternal-rat-blood-could-serve-as-a-biomarker-for-intrauterine-growth-retardation
#10
Dong-Mei Wu, Liang-Peng Ma, Gui-Li Song, Yong Long, Han-Xiao Liu, Yang Liu, Jie Ping
Intrauterine growth retardation (IUGR) is a common obstetric complication lacking an optimal method for prenatal screening. DNA methylation profile in maternal blood holds significant promise for prenatal screening. Here, we aimed to screen out potential IUGR biomarkers in maternal blood from the perspective of DNA methylation. The IUGR rat model was established by prenatal maternal undernutrition. High-throughput bisulfite sequencing of genomic DNA methylation followed by functional clustering analysis for differentially methylated region (DMR)-associated genes demonstrated that genes regulating transcription had the most significantly changed DNA methylation status in maternal blood with IUGR...
November 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/29212591/-pregnancy-after-bariatric-surgery
#11
Mette Mandrup Kjær, Lise Lotte Torvin-Andersen, Peter Dam, Dorte Møller Jensen, Jeanette Lauenborg, Louise Laage Stentebjerg, René Klinkeby Støving, Kristina Martha Renault
This is a review of the recommendations regarding pregnancy after bariatric surgery from the Danish Society of Obstetrics and Gynaecology. The risk of vitamin/mineral deficiencies should be emphasized and checked with blood samples. Measurements of fetal growth should be offered at gestational age 28 and 34 as a supplement to the standard prenatal procedures because of the increased risk of intrauterine growth retardation. Because of persistent obesity there is still an increased risk of hypertension and diabetes mellitus...
December 4, 2017: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/29197002/use-of-gata3-and-twist1-immunofluorescence-staining-to-assess-in-vitro-syncytial-fusion-index
#12
Severine A Degrelle, Thierry Fournier
In human placenta, the multinucleated syncytiotrophoblast (ST) allows all the exchanges between the maternal and fetal circulation and is also the site of placental hormonal functions. Absence or disturbances of ST formation are associated with a defect or pathologies of pregnancy such as preeclampsia (PE) and intrauterine growth retardation (IUGR). All along pregnancy, the ST is regenerated by fusion of underlying mononucleated villous cytotrophoblasts (VCT). The protocol described here provides details on how GATA3 or TWIST1 immunostaining and analysis can be used to easily assess the in vitro differentiation of human placental cytotrophoblast...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29179589/aspirin-or-heparin-or-both-in-the-treatment-of-recurrent-spontaneous-abortion-in-women-with-antiphospholipid-antibody-syndrome-a-meta-analysis-of-randomized-controlled-trials
#13
Chang Lu, Yong Liu, Hai-Li Jiang
OBJECTIVE: This study was designed to evaluate the efficacy of aspirin or heparin or both in the treatment for recurrent spontaneous abortion (RSA) in women with antiphospholipid antibody syndrome (APS). METHODS: Systematic searches for randomized clinical trials (RCTs) evaluating on live birth and preterm delivery, preeclampsia, intrauterine growth restriction, gestational diabetes, bleeding of RSA with APS patients receiving aspirin and heparin therapy were carried out, from PubMed, EMBASE, ScienceDirect and CNKI...
November 27, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29178645/inherited-shq1-mutations-impair-interaction-with-nap57-dyskerin-a-major-target-in-dyskeratosis-congenita
#14
Jonathan Bizarro, U Thomas Meier
BACKGROUND: The inherited bone marrow failure syndrome dyskeratosis congenita (DC) is most frequently caused by mutations in DKC1 (MIM# 300126), the gene encoding NAP57 (aka dyskerin). The typically missense mutations modulate the interaction of NAP57 with its chaperone SHQ1, but no DC mutations have been identified in SHQ1 (MIM# 613663). Here, we report on two compound heterozygous mutations in SHQ1 in a patient with a severe neurological disorder including cerebellar degeneration. METHODS: The SHQ1 mutations were identified by patient exome sequencing...
November 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29169169/effects-and-interactions-of-prenatal-ethanol-exposure-a-post-weaning-high-fat-diet-and-gender-on-adult-hypercholesterolemia-occurrence-in-offspring-rats
#15
Yongjian Qi, Hanwen Luo, Shuwei Hu, Yimeng Wu, Jacques Magdalou, Liaobin Chen, Hui Wang
BACKGROUND/AIMS: Prenatal ethanol exposure (PEE) could induce intrauterine programming of hypothalamic-pituitary-adrenal axis-associated neuroendocrine metabolism, resulting in intrauterine growth retardation and susceptibility to adult hypercholesterolemia in offspring. This study aimed to analyse the effects and interactions of PEE, a post-weaning high-fat diet (HFD) and gender on the occurrence of adult hypercholesterolemia in offspring rats. METHODS: Wistar female rats were treated with ethanol (4 g/kg...
November 23, 2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29169084/changes-in-first-trimester-fetal-cyp1a1-and-ahrr-dna-methylation-and-mrna-expression-in-response-to-exposure-to-maternal-cigarette-smoking
#16
Svetlana Fa, Trine Vilsbøll Larsen, Katrine Bilde, Tina F Daugaard, Emil H Ernst, Karin Lykke-Hartmann, Rasmus H Olesen, Linn S Mamsen, Erik Ernst, Agnete Larsen, Anders L Nielsen
Prenatal exposure to maternal cigarette smoking increases the risk of intrauterine growth retardation, adverse pregnancy outcomes, and diseases later in life. Exposure can result in postnatal global and gene-specific DNA methylation changes, with the latter well documented for the CYP1A1 and AHRR genes involved in the detoxification of xenobiotic substances. This study assessed the impact of exposure to maternal smoking on first trimester fetal CYP1A1 and AHRR mRNA expression and DNA methylation for CpG-sites displaying maternal smoking during pregnancy-mediated methylation changes at birth...
November 16, 2017: Environmental Toxicology and Pharmacology
https://www.readbyqxmd.com/read/29157066/association-between-small-for-gestational-age-and-low-birth-weight-with-attention-deficit-and-impaired-executive-functions-in-3-6-years-old-children
#17
M Shariat, J Gharaee, H Dalili, Y Mohammadzadeh, Sh Ansari, Z Farahani
BACKGROUND: Behavioral disorders and attention deficit hyperactivity disorder (ADHD) symptoms are frequently reported among children with history of small body size at birth and disproportionate intrauterine growth retardation. The current study aimed to investigate some factors like executive functions and attention deficit in children with history of Small for gestational age (SGA) and /or Low Birth Weight (LBW) at birth. METHODS: A historical cohort study was done and 3-6 years old preschool children (with past history of SGA/LBW) from some kindergartens and health centers were selected...
November 20, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29156933/-prevention-of-obesity-from-perinatal-stage
#18
Rosa Mª Martínez García, Ana Isabel Jiménez Ortega, Heldry González Torres, Rosa María Ortega
Obesity is one of the major health problems and a determining factor in the prevalence of diseases such as metabolic syndrome, asthma, sleep apnea, infertility and various types of cancer. Its origin is multifactorial, involving genetic, socioeconomic and environmental factors. These last ones contribute mostly to explain the current epidemic growth of this disease. The sedentary lifestyle, inadequate diet, lack of sleep, alterations in intestinal microbiota and stress are factors related to its development...
October 15, 2017: Nutrición Hospitalaria: Organo Oficial de la Sociedad Española de Nutrición Parenteral y Enteral
https://www.readbyqxmd.com/read/29145277/tricho-hepato-enteric-syndrome-with-novel-skiv2l-gene-mutations-a-case-report
#19
Eitaro Hiejima, Takahiro Yasumi, Hiroshi Nakase, Minoru Matsuura, Yusuke Honzawa, Hirokazu Higuchi, Ikuo Okafuji, Tohru Yorifuji, Takayuki Tanaka, Kazushi Izawa, Tomoki Kawai, Ryuta Nishikomori, Toshio Heike
RATIONALE: Tricho-hepato-enteric syndrome (THES) is a rare disorder caused by mutations in the TTC37 or SKIV2L genes and characterized by chronic diarrhea, liver disease, hair abnormalities, and high mortality in early childhood due to severe infection or liver cirrhosis. PATIENT CONCERNS: The patient is the second child of three siblings born to non-consanguineous healthy Japanese parents. She had intrauterine growth retardation and was delivered at 33 weeks of gestation due to placental abruption...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29142765/duplication-of-19p13-3-in-11-year-old-male-patient-with-dysmorphic-features-and-intellectual-disability-a-review
#20
Irina Novikova, Paushpala Sen, Ann Manzardo, Merlin G Butler
We present a clinical report of an 11-year-old male patient with an interstitial duplication of 19p13.3 (829 kb in size) at genomic coordinates 3,804,495-4,033,722 bp (hg19) identified by chromosomal microarray analysis and review the literature from nine published reports adding knowledge regarding this chromosomal anomaly and clinical outcomes. The size of the duplication ranged from 0.83 to 8.9 Mb in the nine individuals. The young boy in our report was dysmorphic with microcephaly, abnormal craniofacial features, intellectual disability, aggression, and a heart murmur...
December 2017: Journal of Pediatric Genetics
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