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https://www.readbyqxmd.com/read/29160033/discordant-fetal-phenotype-of-hypophosphatasia-in-two-siblings
#1
Satoru Ikenoue, Kei Miyakoshi, Tomohiro Ishii, Yu Sato, Toshimitsu Otani, Yohei Akiba, Yoshifumi Kasuga, Daigo Ochiai, Tadashi Matsumoto, Yosuke Ichihashi, Yohei Matsuzaki, Kanako Tachikawa, Toshimi Michigami, Gen Nishimura, Kazushige Ikeda, Tomonobu Hasegawa, Mamoru Tanaka
Hypophosphatasia (HPP) is an autosomal recessive metabolic disorder with impaired bone mineralization due to mutations in the ALPL gene. The genotype-phenotype correlation of this disorder has been widely described. Here, we present two affected siblings, whose fetal phenotypes were discordant. A 31-year-old Japanese woman, G0P0, was referred to our institution because of fetal micromelia. After obstetric counseling, the pregnancy was terminated at 21 weeks' gestation. Post-mortem radiographs demonstrated severely defective mineralization of the skeleton...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29159925/the-use-of-micro-ct-imaging-to-examine-and-illustrate-fetal-skeletal-abnormalities-in-dutch-belted-rabbits-and-to-prove-concordance-with-alizarin-red-stained-skeletal-examination
#2
Howard M Solomon, Stacia Murzyn, Joyce Rendemonti, Sharon Chapman, Tinamarie Skedzielewski, Beat M Jucker, Dinesh Stanislaus, Hasan Alsaid
OBJECTIVES: In our laboratory we evaluated the use of micro-computed tomography (micro-CT) using a high resolution acquisition protocol and fetuses obtained on Gestation Day (GD) 29 (mating = GD 0). METHODS: To show concordance between traditional Alizarin Red S stain and micro-CT skeletal examination methods, 103 fetuses from 19 untreated Dutch belted rabbits were obtained by cesarean section and stored frozen. The fetuses were thawed, imaged and examined digitally by micro-CT, then stained and re-examined using traditional methods...
November 21, 2017: Birth defects research
https://www.readbyqxmd.com/read/29159203/varicella-zoster-virus-infected-cerebrovascular-cells-produce-a-proinflammatory-environment
#3
Dallas Jones, C Preston Neff, Brent E Palmer, Kurt Stenmark, Maria A Nagel
Objective: To test whether varicella zoster virus (VZV) infection of human brain vascular cells and of lung fibroblasts directly increases proinflammatory cytokine levels, consistent with VZV as a causative agent in intracerebral VZV vasculopathy and giant-cell arteritis (GCA). Methods: Conditioned supernatant from mock- and VZV-infected human brain vascular adventitial fibroblasts (HBVAFs), human perineurial cells (HPNCs), human brain vascular smooth muscle cells (HBVSMCs), and human fetal lung fibroblasts (HFLs) were collected at 72 hours postinfection and analyzed for levels of 30 proinflammatory cytokines using the Meso Scale Discovery Multiplex ELISA platform...
September 2017: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/29158847/photoactive-poly-3-hexylthiophene-nanoweb-for-optoelectrical-stimulation-to-enhance-neurogenesis-of-human-stem-cells
#4
Kisuk Yang, Jin Young Oh, Jong Seung Lee, Yoonhee Jin, Gyeong-Eon Chang, Soo Sang Chae, Eunji Cheong, Hong Koo Baik, Seung-Woo Cho
Optoelectrical manipulation has recently gained attention for cellular engineering; however, few material platforms can be used to efficiently regulate stem cell behaviors via optoelectrical stimulation. In this study, we developed nanoweb substrates composed of photoactive polymer poly(3-hexylthiophene) (P3HT) to enhance the neurogenesis of human fetal neural stem cells (hfNSCs) through photo-induced electrical stimulation. METHODS: The photoactive nanoweb substrates were fabricated by self-assembled one-dimensional (1D) P3HT nanostructures (nanofibrils and nanorods)...
2017: Theranostics
https://www.readbyqxmd.com/read/29157212/fine-motor-skills-in-a-population-of-children-in-remote-australia-with-high-levels-of-prenatal-alcohol-exposure-and-fetal-alcohol-spectrum-disorder
#5
Robyn Doney, Barbara R Lucas, Rochelle E Watkins, Tracey W Tsang, Kay Sauer, Peter Howat, Jane Latimer, James P Fitzpatrick, June Oscar, Maureen Carter, Elizabeth J Elliott
BACKGROUND: Many children in the remote Fitzroy Valley region of Western Australia have prenatal alcohol exposure (PAE). Individuals with PAE can have neurodevelopmental impairments and be diagnosed with one of several types of Fetal Alcohol Spectrum Disorder (FASD). Fine motor skills can be impaired by PAE, but no studies have developed a comprehensive profile of fine motor skills in a population-based cohort of children with FASD. We aimed to develop a comprehensive profile of fine motor skills in a cohort of Western Australian children; determine whether these differed in children with PAE or FASD; and establish the prevalence of impairment...
November 21, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/29156994/experimental-diabetes-impairs-maternal-reproductive-performance-in-pregnant-wistar-rats-and-their-offspring
#6
Leticia Bequer, Tahiry Gómez, José L Molina, Alain Álvarez, Claudia Chaviano, Sonia Clapés
The aim of this study was to determine the effect of mild hyperglycemia on metabolism during pregnancy, the maternal reproductive performance, and the characteristics of the offspring in neonatal mild diabetic-induced Wistar rats. The experimental diabetes model was generated by neonatal streptozotocin administration (100 mg of streptozotocin/Kg bw/sc) in female Wistar rats. At adulthood, the control and diabetic group were mated. At the 20th day of gestation, a maternal and fetal blood sample were collected for biochemical measurement...
November 20, 2017: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/29156418/characterization-of-domestic-pig-spermatogenesis-using-spermatogonial-stem-cell-markers-in-the-early-months-of-life
#7
Julio Almunia, Kotono Nakamura, Mami Murakami, Shigeo Takashima, Masaki Takasu
In pigs, spermatogonial stem cells (SSCs), which include gonocytes and undifferentiated spermatogonia, are classically defined as being present till up to 2 months of life. However, knowledge about this transition from gonocytes to undifferentiated spermatogonia in pigs is limited. In this study, we characterized pig SSCs in neonatal (n = 6), one-month-old (1-mo-old, n = 6), two-month-old (2-mo-old, n = 6), and adult testes (n = 6) anatomically, histologically, and immunohistologically. Anatomically, testicular circumference (TC) was measured at each development stage...
November 3, 2017: Theriogenology
https://www.readbyqxmd.com/read/29153685/effects-of-delivery-on-maternal-neonatal-irisin-levels-in-normal-and-preeclamptic-pregnant-women
#8
Ashraf A Foda, Engy A Foda
STUDY OBJECTIVE: The aim of this work was to measure the irisin levels in maternal and umbilical cord serums at cesarean section and vaginal delivery. STUDY DESIGN: This is a case-control study conducted at the Obstetric Department of the Mansoura University Hospital, Mansoura University, Egypt. MATERIAL AND METHODS: The 150 nulliparous cases were divided into three groups. MAIN OUTCOME MEASURE: Serum irisin concentrations were assayed by enzyme-linked immunosorbent assay (ELISA) method...
October 2017: Pregnancy Hypertension
https://www.readbyqxmd.com/read/29153672/an-intermediate-sflt-1-plgf-ratio-indicates-an-increased-risk-for-adverse-pregnancy-outcome
#9
Janine Hoffmann, Victoria Ossada, Marie Weber, Holger Stepan
OBJECTIVE: The sFlt-1/PlGF ratio is a valid marker in diagnosing or excluding preeclampsia. The currently used cut offs frame an intermediate zone of 33-85 (<34(0) weeks) or 33-110 (≥34(0) weeks), respectively. In this study we sought to evaluate the relevance of an intermediate sFlt-1/PlGF ratio for the clinical pregnancy course and outcome. MATERIAL AND METHODS: We retrospectively analysed 533 consecutive patients with sFlt-1/PlGF ratio measurements for suspected preeclampsia...
October 2017: Pregnancy Hypertension
https://www.readbyqxmd.com/read/29153381/prenatal-tvocs-exposure-negatively-influences-postnatal-neurobehavioral-development
#10
Moonhee Chang, Dongheon Lee, Hyesook Park, Mina Ha, Yun-Chul Hong, Yangho Kim, Boong-Nyun Kim, Yeni Kim, Youn-Hee Lim, Eun-Hee Ha
Prenatal exposure to volatile organic compounds may restrict fetal development and adversely influence infants' life. Therefore, we investigated the relationship between prenatal exposure to total volatile organic compounds (TVOC) and postnatal neurobehavioral development. A subsample of 383 pregnant participants was chosen from the prospective birth cohort study of Mother and Children's Environmental Health Study; MOCEH (N=1,751) from three regions of the Republic of Korea (Seoul, Cheon-an, and Ulsan). Participants were enrolled during their first trimester with informed consent...
November 15, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/29153362/in-vivo-assessment-of-placental-elasticity-in-intrauterine-growth-restriction-by-shear-wave-elastography
#11
Hatice Arioz Habibi, Ebru Alici Davutoglu, Sedat Giray Kandemirli, Mine Aslan, Aysegul Ozel, Ayse Kalyoncu Ucar, Pinar Zeytun, Riza Madazli, Ibrahim Adaletli
PURPOSE: In this study, we evaluated the placental elasticity in vivo by shear-wave elastography in pregnant women under follow-up for intrauterine growth restriction (IUGR) and compared the elasticity values to normal pregnancies. MATERIAL AND METHODS: This prospective study included 42 pregnant women with a possible diagnosis of intrauterine growth restriction based on obstetrical grayscale and Doppler ultrasonography and 42 women with a normal pregnancy during the 2nd and 3rd trimester...
December 2017: European Journal of Radiology
https://www.readbyqxmd.com/read/29151792/fluoxetine-modulates-sex-steroid-levels-in-vitro
#12
Diana Lupu, Marcus O D Sjödin, Mukesh Varshney, Johan Lindberg, Felicia Loghin, Joëlle Rüegg
Background and aims: Selective serotonin reuptake inhibitors (SSRIs) are antidepressants increasingly prescribed against depression during and after pregnancy. However, these compounds cross the placenta and are found in breast milk, thus reaching, and possibly affecting, the fetus and infant during critical developmental stages. Fluoxetine (FLX), a widely used SSRI, can interfere with estrogen signaling, which is important for the development of female sex organs and certain brain areas, among others...
2017: Clujul Medical (1957)
https://www.readbyqxmd.com/read/29150642/rescue-of-pfos-induced-human-sertoli-cell-injury-by-overexpressing-a-p-fak-y407e-phosphomimetic-mutant
#13
Haiqi Chen, Ying Gao, Dolores D Mruk, Xiang Xiao, Constance M John, Paul J Turek, Wing-Yee Lui, Will M Lee, Bruno Silvestrini, C Yan Cheng
PFOS induces Sertoli cell injury using testicular cells isolated from rodent testes, but it remains unknown if PFOS has similar effects in humans. Herein, we maintained human Sertoli cells in a mitotically active state in vitro, thus enabling transfection experiments that altered gene expression to explore the molecular mechanism(s) underlying toxicant-induced cell injury. Human Sertoli cells obtained from men at ages 15, 23, 36 and 40 were cultured in vitro. These differentiated Sertoli cells remained mitotically active when cultured in the presence of 10% FBS (fetal bovine serum), with a replication time of ~1-3 weeks...
November 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29149523/amniocentesis-is-still-the-best-option-for-advanced-genomic-testing-in-case-of-fetal-malformations
#14
M C de Wit, E M Bunnik, A T J I Go, I D de Beaufort, R M W Hofstra, E A P Steegers, R J H Galjaard
No abstract text is available yet for this article.
November 17, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29149263/vitamin-d-and-assisted-reproductive-treatment-outcome-a-systematic-review-and-meta-analysis
#15
Justin Chu, Ioannis Gallos, Aurelio Tobias, Bee Tan, Abey Eapen, Arri Coomarasamy
STUDY QUESTION: Is serum vitamin D associated with live birth rates in women undergoing ART? SUMMARY ANSWER: Women undergoing ART who are replete in vitamin D have a higher live birth rate than women who are vitamin D deficient or insufficient. WHAT IS KNOWN ALREADY: Vitamin D deficiency has been associated with an increased risk of abnormal pregnancy implantation as well as obstetric complications such as pre-eclampsia and fetal growth restriction...
November 15, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29148884/epidemiology-of-schmallenberg-virus-in-european-bison-bison-bonasus-in-poland
#16
Julia Kęsik-Maliszewska, Michał K Krzysiak, Maria Grochowska, Lech Lechowski, Christopher Chase, Magdalena Larska
Schmallenberg virus (SBV), an emerging arbovirus in Europe, is an important pathogen in domestic ruminants; however, its impact on free-ranging wild ruminants is not well studied. Three hundred and forty-seven serum samples collected between 2011 and 2016 from 302 European bison (Bison bonasus) from 12 different sites in Poland were tested for the presence of SBV antibodies. In addition, 86 sera were collected between 2013 and 2016 from three species of cervids for testing for SBV antibodies. After the first detection of the virus in Poland in October 2012, the proportion of SBV-seropositive European bison reached 81% (95% confidence interval [CI]: 77...
November 17, 2017: Journal of Wildlife Diseases
https://www.readbyqxmd.com/read/29146733/effects-of-chronically-increased-vegf-a-on-the-aging-heart
#17
Alexander G Marneros
Whether approaches to chronically increase VEGF-A in the heart may have beneficial effects and prevent the development of heart failure, in part by improving cardiac perfusion, or whether this increase could have detrimental effects on cardiac performance in the aging heart, has not been tested yet. In this study, a genetic mouse model with a chronic increase in VEGF-A in the heart is shown to have increased cardiac angiogenesis and develop cardiac hypertrophy with enhanced basal cardiac performance with age progression...
November 16, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29146504/minocycline-protects-developing-brain-against-ethanol-induced-damage
#18
Xin Wang, Kai Zhang, Fanmuyi Yang, Zhenhua Ren, Mei Xu, Jacqueline A Frank, Zun-Ji Ke, Jia Luo
Fetal alcohol spectrum disorders (FASD) are caused by ethanol exposure during the pregnancy and is the leading cause of mental retardation. Ethanol exposure during the development results in the loss of neurons in the developing brain, which may underlie many neurobehavioral deficits associated with FASD. It is important to understand the mechanisms underlying ethanol-induced neuronal loss and develop appropriate therapeutic strategies. One of the potential mechanisms involves neuroimmune activation. Using a third trimester equivalent mouse model of ethanol exposure, we demonstrated that ethanol induced a wide-spread neuroapoptosis, microglial activation, and neuroinflammation in C57BL/6 mice...
November 14, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/29144536/isolation-and-whole-genome-sequencing-of-fetal-cells-from-maternal-blood-towards-the-ultimate-non-invasive-prenatal-testing
#19
Fang Chen, Ping Liu, Ying Gu, Zhu Zhu, Amulya Nanisetti, Zhangzhang Lan, Zhiwei Huang, Sophie Jia Liu, Xiongbin Kang, Yuqing Deng, Liqiong Luo, Dan Jiang, Yong Qiu, Jianchang Pan, Jun Xia, Ken Xiong, Chao Liu, Lin Xie, Qianyu Shi, Jing Li, Xiuqing Zhang, Wei Wang, Snezana Drmanac, Hui Jiang, Radoje Drmanac, Xun Xu
OBJECTIVE: To develop a methodology of isolating fetal cells from maternal blood and use deep sequencing demonstrating the promise for more complete and accurate genetic screening compared to other non-invasive prenatal testing (NIPT). METHODS: Here in this study, we developed a double negative selection (DNS) procedure to unbiasedly enrich fetal cells. After validated by short tandem repeat (STR), the isolated CFCs were subjected to deep whole genome sequencing analysis (WGS)...
November 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29142449/single-blastocyst-transfer-the-key-to-reduce-multiple-pregnancy-rates-without-compromising-the-live-birth-rate
#20
Uma M Sundhararaj, Monali V Madne, Reeta Biliangady, Sumana Gurunath, Ambika G Swamy, Indu S T Gopal
Background: Historically, to achieve higher pregnancy rates, multiple embryos were transferred after an in-vitro fertilisation (IVF). However, this practice is being reassessed, because it leads to multiple pregnancies that is known to cause adverse maternal and fetal outcomes. Aim: To compare the pregnancy outcomes in fresh IVF or intracytoplasmic sperm injection (ICSI) cycles among women undergoing elective single blastocyst transfer (eSBT) vs. those undergoing double blastocyst transfer (DBT)...
July 2017: Journal of Human Reproductive Sciences
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