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Fetal malformations

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https://www.readbyqxmd.com/read/28427592/pathologic-active-mtor-mutation-in-brain-malformation-with-intractable-epilepsy-leads-to-cell-autonomous-migration-delay
#1
Sae Hanai, Sayuri Sukigara, Hongmei Dai, Tomoo Owa, Shin-Ichi Horike, Taisuke Otsuki, Takashi Saito, Eiji Nakagawa, Naoki Ikegaya, Takanobu Kaido, Noriko Sato, Akio Takahashi, Kenji Sugai, Yuko Saito, Masayuki Sasaki, Mikio Hoshino, Yu-Ichi Goto, Schuichi Koizumi, Masayuki Itoh
The activation of phosphatidylinositol 3-kinase-AKTs-mammalian target of rapamycin cell signaling pathway leads to cell overgrowth and abnormal migration and results in various types of cortical malformations, such as hemimegalencephaly (HME), focal cortical dysplasia, and tuberous sclerosis complex. However, the pathomechanism underlying abnormal cell migration remains unknown. With the use of fetal mouse brain, we performed causative gene analysis of the resected brain tissues from a patient with HME and investigated the pathogenesis...
May 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28424010/olfactory-development-part-1-function-from-fetal-perception-to-adult-wine-tasting
#2
Harvey B Sarnat, Laura Flores-Sarnat, Xing-Chang Wei
Discrimination of odorous molecules in amniotic fluid occur after 30 weeks' gestation; fetuses exhibit differential responses to maternal diet. Olfactory reflexes enable reliable neonatal testing. Olfactory bulbs can be demonstrated reliably by MRI after 30 weeks' gestation, and their hypoplasia or aplasia also documented by late prenatal and postnatal MRI. Olfactory axons project from nasal epithelium to telencephalon before olfactory bulbs form. Fetal olfactory maturation remains incomplete at term for neuronal differentiation, synaptogenesis, myelination, and persistence of the transitory fetal ventricular recess...
May 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28424008/olfactory-development-part-2-neuroanatomic-maturation-and-dysgeneses
#3
Harvey B Sarnat, Laura Flores-Sarnat
Olfactory axons project from nasal epithelium to the primitive telencephalon before olfactory bulbs form. Olfactory bulb neurons do not differentiate in situ but arrive via the rostral migratory stream. Synaptic glomeruli and concentric laminar architecture are unlike other cortices. Fetal olfactory maturation of neuronal differentiation, synaptogenesis, and myelination remains incomplete at term and have a protracted course of postnatal development. The olfactory ventricular recess involutes postnatally but dilates in congenital hydrocephalus...
May 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28421025/the-use-of-lausanne-trilogue-play-in-three-cases-of-gastroschisis-diagnosed-during-pregnancy
#4
Sandra Pellizzoni, Antonella Tripani, Marina Miscioscia, Rosella Giuliani, Andrea Clarici
From pregnancy to the 1st years of a child's life, families develop and increase representations and interactive competences toward the child. Prenatal diagnosis of a severe fetus' defect could profoundly alter the parental perception and development of these representations. The aim of the study was to evaluate triadic interactions in families, whose baby was prenatally diagnosed with severe gastroschisis. Three families took part in the preliminary case study, which was carried out when the babies were 6 months old...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28413896/congenital-malformations-palliative-care-and-postnatal-redirection-to-more-intensive-treatment-a-review-at-a-swiss-tertiary-center
#5
Ulrich Pfeifer, Deborah Gubler, Eva Bergstraesser, Dirk Bassler
PURPOSE: The so-called lethal malformations pose ethical challenges. Most affected fetuses die before or at birth. Live-born neonates commonly receive palliative care. If the postnatal course is better than expected, redirection towards more treatment may occur. We aimed to analyze this in a Swiss patient cohort. MATERIALS AND METHODS: Over 6 years, fetal malformation was suspected in 1113 cases. We identified patients prenatally assigned to palliative care, assessed pre- and postnatal diagnoses, and outcomes...
April 16, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28413694/first-neonatal-demise-with-travel-associated-zika-virus-infection-in-the-united-states-of-america
#6
Nikolaos Zacharias, Janice Whitty, Sarah Noblin, Sophia Tsakiri, Jose Garcia, Michael Covinsky, Meenakshi Bhattacharjee, David Saulino, Nina Tatevian, Sean Blackwell
Zika virus is increasingly recognized as a fetal pathogen worldwide. We describe the first case of neonatal demise with travel-associated Zika virus infection in the United States of America, including a novel prenatal ultrasound finding. A young Latina presented to our health care system in Southeast Texas for prenatal care at 23 weeks of gestation. Fetal Dandy-Walker malformation, asymmetric cerebral ventriculomegaly, single umbilical artery, hypoechoic fetal knee, dorsal foot edema, and mild polyhydramnios were noted upon initial screening prenatal sonography at 26 weeks...
April 2017: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/28403053/zika-virus-infection-associated-with-congenital-birth-defects-in-a-hiv-infected-pregnant-woman
#7
Esaú Custódio João, Maria Isabel Fragoso da Silveira Gouvea, Maria de Lourdes Benamor Teixeira, Wallace Mendes-Silva, Juliana Silva Esteves, Edwiges Motta Santos, Leandro Augusto Ledesma, Ana Paula Gomes, Maria Letícia Cruz
We describe a case of Zika virus infection acquired during the first trimester in a HIV-infected pregnant woman that led to multiple fetal malformations and fetal demise in Rio de Janeiro, Brazil.
May 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28399525/prognosis-of-isolated-first-trimester-fetal-megacystis-with-spontaneous-resolution
#8
Noémie Girard, Benjamin Viaris de Lesegno, Paul Bussière, Catherine Egoroff, Anne-Gaël Cordier, Alexandra Benachi
OBJECTIVE: Fetal megacystis has a poor prognosis. During the first trimester, it is frequently associated with chromosomal abnormalities or multiple malformations, but can also be isolated and resolve spontaneously. In this study, our main objective was to determine the fetal and pediatric prognosis in this particular situation. METHODS: This was a retrospective multicenter study. We describe the cases referred to our fetal medicine centers and also cases previously reported in the international literature...
April 12, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28398665/both-a-frameshift-and-a-missense-mutation-of-the-stra6-gene-observed-in-an-infant-with-the-matthew-wood-syndrome
#9
Samantha Sadowski, Nicolas Chassaing, Zuzanna Gaj, Ewa Czichos, Jan Wilczynski, Dorota Nowakowska
BACKGROUND: The Matthew-Wood syndrome is associated with mutations of the STRA6 gene. It combines a pulmonary agenesis/hypoplasia; microphthalmia/anophthalmia; congenital cardiac, digestive, and urogenital malformations; and diaphragmatic defects. CASE: A 23-year-old nulliparous woman was referred to our center after a fetal ultrasound examination at 26 weeks of pregnancy revealed an abnormal head shape, a heart malformation, multiple cysts in both kidneys, and dilated ureters...
March 1, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28398620/high-ratios-of-c20-4n-6-c20-5n-3-and-thromboxane-b2-6-keto-prostaglandin-f1%C3%AE-in-placenta-are-potential-risk-contributors-for-neural-tube-defects-a-case-control-study-in-shanxi-province-china
#10
Kelei Li, Xiaotian Zhang, Lijun Pei, Gong Chen, Jianmeng Liu, Mark L Wahlqvist, Xiaoying Zheng, Duo Li
BACKGROUND: Neural tube defects (NTDs) are severe congenital malformations. Folate supplementation can reduce the risk, but cannot prevent all NTDs, suggesting other reasons for folate-resistant NTDs. The present study assesses placental fatty acid composition, eicosanoids, and cytokines as risk factors for NTDs in a Chinese population with highly incident NTDs. METHODS: Seventy-seven aborted fetuses with NTDs during the third trimester were cases and 142 healthy newborns were controls...
March 24, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28398022/teratology-of-valproic-acid-an-updated-review-of-the-possible-mediating-mechanisms
#11
Adalisa Ponzano, Gian M Tiboni
Valproic acid (VPA) is an anti-epileptic drug (AED) which is currently being investigated for its potential application in the treatment of several types of cancers, including solid and non-solid tumor. It is well known that prenatal exposure to VPA largely increases the risk for malformations and other developmental disorders. This review concentrates on clinical and experimental data on congenital anomalies attributed to maternal VPA exposure during. Particular emphasis is paid to the potential mechanisms underlying VPA-induced malformations...
April 10, 2017: Minerva Ginecologica
https://www.readbyqxmd.com/read/28397213/-analysis-of-genome-wide-copy-number-variations-among-fetuses-with-abnormalities-detected-by-prenatal-ultrasouography
#12
Ke Wu, Shaohua Tang, Chong Chen, Huanzheng Li, Lili Zhou, Jianxin Lyu
OBJECTIVE: To explore the genetic etiology of fetal abnormalities detected by prenatal ultrasound through single nucleotide polymorphism (SNP array) analysis. METHODS: Two hundred and eight fetuses were tested with SNP array and conventional karyotyping. Complex copy number variations (CNVs) were verified with fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA) and quantitative fluorescence polymerase chain reaction (QF-PCR)...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28394716/lethal-congenital-malformations-in-fetuses-antenatal-ultrasound-or-perinatal-autopsy
#13
Sumit Grover, Bhavna Garg, Neena Sood, Kamaldeep Arora
BACKGROUND: Congenital malformations (CMF) are major causes of fetal demise which can be detected antenatally by Ultrasonography (USG). METHODS: We studied 100 perinatal autopsies for CMF. Sensitivity of USG was determined and accuracy of USG with that of autopsy was compared. RESULTS: At Autopsy 134 individual CMF were seen in 40 cases. The sensitivity of USG in detecting major CMF was 54.47%. A complete agreement between autopsy and USG findings was seen in 13/40 (32...
April 10, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28394646/prenatal-diagnosis-of-a-case-of-norrie-disease-with-late-development-of-bilateral-ocular-malformation
#14
Li Hong Wu, Li-Hong Chen, Hongning Xie, Ying-Jun Xie
We report a case of Norrie disease, diagnosed by prenatal ultrasound, confirmed by Sanger sequencing of the DNP gene from the aborted fetal cord blood and histologically. Prenatal ultrasound revealed no abnormality in either eye at 22(+1) and 31(+4) gestational weeks, but at 36(+5) gestational weeks both eyes had massive vitreous cavity opacities with complete retinal detachment. Norrie disease was initially suspected because of an older male sibling with the disease. To our knowledge, prenatal ultrasound diagnosis of Norrie disease has been previously described only one case in 1993 in a 34-week-old fetus...
April 10, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28380160/high-risk-pregnancies-and-factors-associated-with-neonatal-death
#15
Marcela de Oliveira Demitto, Angela Andréia França Gravena, Cátia Millene Dell'Agnolo, Marcos Benatti Antunes, Sandra Marisa Pelloso
OBJECTIVE: To identify the factors associated with intra-hospital neonatal mortality based on the individual characteristics of at-risk pregnant mothers, delivery and newborns. METHOD: This was a cross-sectional epidemiological study of live newborns delivered by women attended at the high-risk outpatient unit of a philanthropic hospital in Maringá, Paraná, Brazil between September 2012 and September 2013. RESULTS: Six hundred and eighty-eight women participated in the study...
April 3, 2017: Revista da Escola de Enfermagem da U S P
https://www.readbyqxmd.com/read/28378426/a-prospective-study-on-fetal-posterior-cranial-fossa-assessment-for-early-detection-of-open-spina-bifida-at-11-13-weeks
#16
Semir Kose, Sabahattin Altunyurt, Pembe Keskinoglu
To test three measurements; brain stem (BS), intracranial translucency (IT) and brain stem to occipital bone distance (BSOB), as well as one landmark; cisterna magna (CM) visibility, for early diagnosis of open spina bifida (OSB) in a low risk population. A prospective observational study was undertaken in a university hospital. A sample of 1479 women consented to participate between 20 September 2013 and 30 June 2015. Measurements were performed from the mid-sagittal view, as is routinely used for nuchal thickness assessment...
April 5, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28374905/mtor-folate-sensing-links-folate-availability-to-trophoblast-cell-function
#17
Fredrick J Rosario, Theresa L Powell, Thomas Jansson
Folate is a water-soluble B vitamin that is essential for cellular methylation reactions and DNA synthesis and repair. Low maternal folate levels in pregnancy are associated with fetal growth restriction, however the underlying mechanisms are poorly understood. Mechanistic target of rapamycin (mTOR) links nutrient availability to cell growth and function by regulating gene expression and protein translation. Here we show that mTOR functions as a folate sensor in primary human trophoblast (PHT) cells. Folate deficiency in PHT cells caused inhibition of mTOR signalling and decreased the activity of key amino acid transporters...
April 4, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28372492/prenatally-diagnosed-congenital-portosystemic-shunts
#18
Bérengère Francois, Alain Lachaux, Fréderic Gottrand, Stéphanie De Smet
AIM: Congenital portosystemic shunts (CPSS) are rare, congenital malformations that are increasingly often discovered during the fetal period, and for which, the manifestations and evolution are poorly understood. The objective of this review is to describe the phenotype and evolution of forms diagnosed in the antenatal period. MATERIALS AND METHODS: We performed a systematic review of the literature cited in Pubmed between 1982 and 2016 for CPSS cases diagnosed during the fetal period...
April 20, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28355686/-retrospective-analysis-of-outcomes-of-selectively-or-spontaneously-reduced-multiple-pregnancies-out-of-6-917-in-vitro-fertilization-embryo-transfer-pregnancy-cycles
#19
Q L Chen, H Ye, X Y Ding, X L Shen, G N Huang
Objective: To analyze the effects of fetal reduction in early pregnancy on obstetric and neonatal outcomes of spontaneously or selectively reduced multiple pregnancies produced by in vitro fertilization-embryo transfer (IVF-ET). Methods: Retrospective study of 6 917 clinical pregnancies from IVF-ET cycles, including 754 multiple pregnancies divided into two groups according to the remaining fetus number: reduced singleton group (n=599) and reduced twin group (n=155); and maternal and neonatal outcomes of two groups were compared to primary singleton group (n=3 589) and primary twin group (n=2 574)...
March 25, 2017: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/28349516/outcomes-and-predictive-tests-from-a-dedicated-specialist-clinic-for-women-at-high-risk-of-preterm-labour-a-ten-year-audit
#20
Kelly Hughes, Shirlene Sim, Alina Roman, Kasia Michalak, Stefan Kane, Penelope Sheehan
BACKGROUND: Preterm birth continues to be a major cause of infant morbidity and mortality worldwide, but advances have recently been made in its prediction and prevention. A short cervix (<25 mm) in the second trimester on transvaginal ultrasound scan and fetal fibronectin are important predictive tests. For over ten years, the Preterm Labour Clinic at the Royal Women's Hospital, Melbourne, Australia has provided care for women at high risk of preterm birth, including those with a previous preterm birth, previous cervical surgery, uterine malformation or incidental finding of short cervix at routine ultrasound...
March 28, 2017: Australian & New Zealand Journal of Obstetrics & Gynaecology
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