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Fetal malformations

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https://www.readbyqxmd.com/read/28336320/preliminary-research-on-dna-methylation-changes-during-murine-palatogenesis-induced-by-tcdd
#1
Chen Wang, Xin-Gang Yuan, Cui-Ping Liu, Sha-Na Zhai, Ding-Wen Zhang, Yue-Xian Fu
2,3,7,8-Tetrachlrodibenzo-p-dioxin (TCDD) has been shown to induce cleft palate through growth factor and receptor expression changes during palatogenesis. DNA methylation is an important epigenetic modification that can regulate gene expressions and may be involved in TCDD-induced cleft palate. In this study, we investigated the effects of TCDD on the global and CpG DNA methylation status and the expression levels of DNA methyltransferases (Dnmts) in palate tissue of fetal mice. Pregnant C57BL/6J mice were administered with corn oil or TCDD 28 μg/kg at gestation day 10...
February 12, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28334964/mutations-in-the-leukemia-inhibitory-factor-receptor-lifr-gene-and-lifr-deficiency-cause-urinary-tract-malformations
#2
Anne Kosfeld, Frank Brand, Anna-Carina Weiss, Martin Kreuzer, Michaela Goerk, Helge Martens, Stephanie Schubert, Anne-Kathrin Schäfer, Vera Riehmer, Imke Hennies, Jan Hinrich Bräsen, Lars Pape, Kerstin Amann, Lars Krogvold, Anna Bjerre, Christoph Daniel, Andreas Kispert, Dieter Haffner, Ruthild G Weber
Congenital anomalies of the kidneys and urinary tract (CAKUT) are the most common cause of chronic kidney disease in children. As CAKUT is a genetically heterogeneous disorder and most cases are genetically unexplained, we aimed to identify new CAKUT causing genes. Using whole-exome sequencing and trio-based de novo analysis, we identified a novel heterozygous de novo frameshift variant in the leukemia inhibitory factor receptor (LIFR) gene causing instability of the mRNA in a patient presenting with bilateral CAKUT and requiring kidney transplantation at one year of age...
March 8, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334503/the-fetal-safety-of-clomiphene-citrate-a-population-based-retrospective-cohort-study
#3
Asher Weller, Sharon Daniel, Gideon Koren, Eitan Lunenfeld, Amalia Levy
OBJECTIVE: To evaluate whether exposure to CC for ovulation induction is associated with either overall major malformations or specific fetal anomalies. DESIGN: We conducted a population-based retrospective cohort. Exposure was defined as CC dispension from two months before conception through the first month of pregnancy. SETTINGS: Four databases were combined: medication, birth, hospitalization and pregnancy terminations. POPULATION: The study included all women in southern Israel who gave birth or underwent pregnancy termination at Soroka Medical Center from 1998 to 2009...
March 23, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28320521/differential-mirna-expression-analysis-during-late-stage-terminal-hindgut-development-in-fetal-rats
#4
Shuguang Jin, Junxiang Wang, Hong Chen, Bo Xiang
BACKGROUND: Terminal hindgut deformity is the leading digestive tract malformation, however, the etiology and pathogenesis remained unknown. To date, gene expression abnormalities were considered the primary cause of these diseases. miRNAs have been found to play an important role in regulating the expression of genes. METHODS: A total of 24 pregnant rats were randomly divided into two groups. The experimental group (n=12) received 1% ethylenethiourea (125mg/kg) by gavage on gestational day 11, while the control group (n=12) received the same volume of distilled water...
March 12, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28320222/demographic-and-perinatal-outcome-data-of-fetuses-with-sua-pruv
#5
Lulu Sun, Yanlin Wang
AIM: Identify structural anomalies and adverse pregnancy outcomes accompanying single umbilical artery (SUA) and persistent right umbilical vein (PRUV) and to investigate whether SUA and PRUV are associated with chromosomal abnormalities and if these defects warrant invasive antenatal diagnosis. METHODS: We retrospectively analyzed pregnancies with an antenatal diagnosis of SUA/PRUV from the International Peace Maternity and Child Health Hospital (IPMCHH) database...
March 20, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28319995/clinical-trials-of-therapeutics-for-the-prevention-of-congenital-zika-virus-disease-challenges-and-potential-solutions
#6
Alex P Salam, Amanda Rojek, Jake Dunning, Peter W Horby
Zika virus (ZIKV) infection in pregnancy is associated with adverse fetal outcomes, such as microcephaly and other congenital malformations. No therapeutic options are available to pregnant women with ZIKV infection to prevent these effects. Drug trials in pregnancy raise several scientific, ethical, and logistical challenges, which are compounded further in ZIKV because of limited knowledge of the disease pathophysiology and a product development pipeline in its infancy. We evaluate the major challenges in choosing therapeutics to prevent congenital ZIKV disease and conducting clinical trials of these treatments, with a focus on preventing congenital central nervous system malformations...
March 21, 2017: Annals of Internal Medicine
https://www.readbyqxmd.com/read/28318966/structural-biology-of-the-zika-virus
#7
REVIEW
Yi Shi, George F Gao
Zika virus (ZIKV), a Flaviviridae family member transmitted to humans by mosquitoes, has emerged as a major health concern. ZIKV infections can cause serious neurological complications in adults, and infection in pregnant women can cause congenital malformations, including fetal and newborn microcephaly. In response to this emerging concern, the structural virology field was quick to explore the features of ZIKV. These efforts have provided significant insights into ZIKV pathogenesis, and have identified targets for drug design...
March 15, 2017: Trends in Biochemical Sciences
https://www.readbyqxmd.com/read/28304179/discrepancy-in-fetal-head-biometry-between-ultrasound-and-mri-in-suspected-microcephalic-fetuses
#8
Gal Yaniv, Eldad Katorza, Vered Tsehmaister Abitbol, Arik Eisenkraft, Ronen Bercovitz, Salim Bader, Chen Hoffmann
Background Microcephaly is one of the most common fetal structural abnormalities, and prenatal microcephaly is considered a group I malformation of cortical development diagnosed according to ultrasound (US) skull measurements. Purpose To evaluate the agreement between fetal head US and magnetic resonance imaging (MRI) biometric measurements of suspected microcephalic fetuses. Material and Methods This institutional review board-approved retrospective study with waived informed consent included 180 pregnant women and was conducted at our medical center from March 2011 to April 2013...
January 1, 2017: Acta Radiologica
https://www.readbyqxmd.com/read/28303207/management-strategies-for-neoplastic-and-vascular-brain-lesions-presenting-during-pregnancy-a-series-of-29-patients
#9
Celestino Esteves Pereira, Jose Carlos Lynch
BACKGROUND: The occurrence of a brain tumor or intracranial vascular lesion during pregnancy is a rare event, but when it happens, it jeopardizes the lives of both the mother and infant. It also creates challenges of a neurosurgical, obstetric, and ethical nature. A multidisciplinary approach should be used for their care. METHODS: Between 1986 and 2015, 12 pregnant women diagnosed with brain tumors and 17 women with intracranial vascular lesion underwent treatment at the Neurosurgery Department of the Servidores do Estado Hospital and Rede D'Or/São Luis...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28302741/cardiac-regeneration-lessons-from-development
#10
Francisco X Galdos, Yuxuan Guo, Sharon L Paige, Nathan J VanDusen, Sean M Wu, William T Pu
Palliative surgery for congenital heart disease has allowed patients with previously lethal heart malformations to survive and, in most cases, to thrive. However, these procedures often place pressure and volume loads on the heart, and over time, these chronic loads can cause heart failure. Current therapeutic options for initial surgery and chronic heart failure that results from failed palliation are limited, in part, by the mammalian heart's low inherent capacity to form new cardiomyocytes. Surmounting the heart regeneration barrier would transform the treatment of congenital, as well as acquired, heart disease and likewise would enable development of personalized, in vitro cardiac disease models...
March 17, 2017: Circulation Research
https://www.readbyqxmd.com/read/28300009/prenatal-diagnosis-of-aortopulmonary-window-associated-with-aberrant-subclavian-artery
#11
Adetola F Louis-Jacques, Sarah Obican, Thieu Nguyen, Anthony Odibo
Aortopulmonary window is a rare cardiac developmental anomaly characterised by a communication between the ascending aorta and the pulmonary artery. Aortopulmonary window may be isolated or associated with cardiac defects such as ventricular septal defect, atrial septal defect, interrupted aortic arch, and tetralogy of Fallot. We report a case of aortopulmonary window associated with aberrant subclavian artery based on fetal two-dimensional echocardiogram. The mother was referred for fetal echocardiography because of multiple fetal anomalies...
March 16, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28295775/comparative-study-of-conventional-and-virtual-autopsy-using-postmortem-mri-in-the-phenotypic-characterization-of-stillbirths-and-malformed-fetuses
#12
Mohan Shruthi, Neerja Gupta, Manisha Jana, Asit R Mridha, Atin Kumar, Ramesh Agarwal, Raju Sharma, Dipika Deka, Arun Kumar Gupta, Madhulika Kabra
OBJECTIVE: To prospectively compare conventional and virtual autopsy using postmortem-MRI in the phenotypic characterization of stillbirths and malformed fetuses and their acceptability to parents. METHODS: We performed whole body postmortem-MRI (1.5T) prior to conventional autopsy in 43 fetuses/still births (≥20 weeks of gestation) after excluding maternal causes of fetal death. With conventional autopsy as gold standard, postmortem-MRI findings were assessed and compared...
March 13, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28295440/role-of-hdlive-in-imaging-the-fetal-heart
#13
Selvaraj Ravi Lakshmy, Bharat Jain, Nity Rose
HDLive is a rendering methodology that generates realistic images of the human fetus from sonographic data. The objective of this study is to demonstrate the utility of high-definition live in evaluating fetal heart especially in the first trimester (11-14-week) scan. The normal atrioventricular valve and its abnormalities along with septal defects can be vividly demonstrated with this technique, and eight cases with cardiac defects are illustrated. Its use in the first-trimester evaluation of heart would give a better perspective of the cardiac malformation, which provides the opportunity for counseling options early in pregnancy...
March 11, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28295149/enlarged-posterior-fossa-on-prenatal-imaging-differential-diagnosis-associated-anomalies-and-post-natal-outcome
#14
Anja Wüest, Daniel Surbek, Roland Wiest, Christian Weisstanner, Harald Bonel, Maja Steinlin, Luigi Raio, Boris Tutschek
INTRODUCTION: The primary aim of this study was to ascertain the prevalence the individual conditions and of associated anomalies in fetuses with the prenatal diagnosis of enlarged posterior fossa and to explore the diagnostic accuracy of ultrasound in these anomalies. The secondary aim was to evaluate the post-natal outcome of children affected by posterior fossa anomalies. MATERIAL AND METHODS: All fetuses with enlarged posterior fossa detected by prenatal sonography at a referral center from 2001-2015 were analyzed retrospectively...
March 14, 2017: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/28292826/arrhythmia-risk-and-%C3%AE-blocker-therapy-in-pregnant-women-with-long-qt-syndrome
#15
Kohei Ishibashi, Takeshi Aiba, Chizuko Kamiya, Aya Miyazaki, Heima Sakaguchi, Mitsuru Wada, Ikutaro Nakajima, Koji Miyamoto, Hideo Okamura, Takashi Noda, Toshifumi Yamauchi, Hideki Itoh, Seiko Ohno, Hideki Motomura, Yoshiharu Ogawa, Hiroko Goto, Takaomi Minami, Nobue Yagihara, Hiroshi Watanabe, Kanae Hasegawa, Akihiro Terasawa, Hitoshi Mikami, Kayo Ogino, Yukiko Nakano, Sato Imashiro, Yosuke Fukushima, Yoshimitsu Tsuzuki, Koko Asakura, Jun Yoshimatsu, Isao Shiraishi, Shiro Kamakura, Yoshihiro Miyamoto, Satoshi Yasuda, Takashi Akasaka, Minoru Horie, Wataru Shimizu, Kengo Kusano
BACKGROUND: Pregnancy is one of the biggest concerns for women with long QT syndrome (LQTS). OBJECTIVES: This study investigated pregnancy-related arrhythmic risk and the efficacy and safety of β-blocker therapy for lethal ventricular arrhythmias in pregnant women with LQTS (LQT-P) and their babies. METHODS: 136 pregnancies in 76 LQT-P (29±5 years old; 22 LQT1, 36 LQT2, one LQT3, and 17 genotype-unknown) were enrolled. We retrospectively analysed their clinical and electrophysiological characteristics and pregnancy outcomes in the presence (BB group: n=42) or absence of β-blocker therapy (non-BB group: n=94)...
March 14, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/28288540/brainstem-vermis-and-brainstem-tentorium-angles-3d-ultrasound-study-of-the-intra-and-inter-observer-agreement
#16
Tamara Illescas, Pilar Martínez-Ten, Carmina Bermejo, María Estévez, Begoña Adiego
OBJECTIVE: The brainstem-vermis angle (BVA) and the brainstem-tentorium angle (BTA) have been proposed to quantify vermian and tentorial alterations associated to fetal posterior fossa malformations. Our objective is to evaluate the intra- and inter-observer agreement for the measurement of these angles during the prenatal ultrasound scan. METHODS: Fifteen 3D sets from fetuses with posterior fossa pathology were processed by multiplanar navigation. Four experts in prenatal ultrasound measured the BVA and the BTA on a mid-sagittal view of the fetal brain, following the criteria described by Volpe(1)...
March 13, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28288452/fetal-magnetic-resonance-imaging-findings-in-prenatal-zika-virus-infection
#17
José Enrique Sanín-Blair, Carolina Gutiérrez-Márquez, Diego A Herrera, Arastoo Vossough
Brain lesions and malformations have been described on ultrasonography of prenatal Zika infection; however, there are scarce reports about fetal magnetic resonance (MR) findings. We report 3 cases of fetuses with confirmed intrauterine Zika virus infection evaluated by ultrasound and fetal MR. Various morphometric measurements were assessed and brain maturation was calculated with the fetal total maturation score. Fetuses with prenatal Zika virus infection showed retardation in brain maturation indexes evaluated by fetal MR...
March 14, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28286114/mechanism-of-deoxynivalenol-effects-on-the-reproductive-system-and-fetus-malformation-current-status-and-future-challenges
#18
REVIEW
Miao Yu, Liangkai Chen, Zhao Peng, Andreas K Nüssler, Qinghua Wu, Liegang Liu, Wei Yang
Deoxynivalenol (DON) is a toxic fungal secondary metabolite produced by molds of the Fusarium genus, and it is known to cause a spectrum of diseases both in humans and animals, such as emesis, diarrhea, anorexia, immunotoxicity, hematological disorders, impairment of maternal reproduction, and fetal development. The recently revealed teratogenic potential of DON has received much attention. In various animal models, it has been shown that DON led to skeletal deformities of the fetus. However, the underlying mechanisms are not yet fully understood, and toxicological data are also scarce...
March 7, 2017: Toxicology in Vitro: An International Journal Published in Association with BIBRA
https://www.readbyqxmd.com/read/28284730/developmental-and-reproductive-toxicological-evaluation-of-arachidonic-acid-ara-rich-oil-and-docosahexaenoic-acid-dha-rich-oil
#19
Michael C Falk, Xiaohui Zheng, Dieling Chen, Yue Jiang, Zeshen Liu, Kara D Lewis
The purpose of this study was to investigate the reproductive and developmental toxicity of dietary exposure to DHA-rich oil from Schizochytrium sp. and ARA-rich oil from Mortierella alpina. In a developmental toxicity study, pregnant Wistar rats were untreated (control) or administered corn oil (vehicle control), 1000, 2500, or 5000 mg/kg bw/day of DHA-rich oil or ARA-rich oil via gavage from gestation days 6 through 20. In the reproductive toxicity study, male and female Wistar rats were administered vehicle control (corn oil), or 1000, 2500, or 5000 mg/kg bw/day of DHA- or ARA-rich oil via gavage throughout the mating period, pregnancy, and the nursing and lactation period...
March 8, 2017: Food and Chemical Toxicology
https://www.readbyqxmd.com/read/28282781/fetal-brain-anomalies-detection-during-the-first-trimester-expanding-the-scope-of-antenatal-sonography
#20
Eldad Katorza, Itai Gat, Nir Duvdevani, Nir Meller, Noam Pardo, Eran Barzilay, Reuven Achiron
PURPOSE: The purpose of this study was to describe fetal brain anomalies identified during nuchal translucency (NT) examination and their clinical management. MATERIALS AND METHODS: In this retrospective study, we evaluated charts of pregnant women performed the first trimester scan (FTS) between 1.1.2011 and 31.12.14 in a tertiary referral center. Study population consisted of 952 patients scheduled for routine NT scan for aneuploidy screening between 11.0 and 13...
February 15, 2017: Journal of Maternal-fetal & Neonatal Medicine
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