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Fetal neurology

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https://www.readbyqxmd.com/read/28211990/homozygous-mutation-in-prune1-in-an-oji-cree-male-with-a-complex-neurological-phenotype
#1
Gregory Costain, Andrea Shugar, Pradeep Krishnan, Saadet Mahmutoglu, Suzanne Laughlin, Peter Kannu
The PRUNE1 gene encodes a member of the phosphoesterases (DHH) protein superfamily that is highly expressed in the human fetal brain and involved in the regulation of cell migration. Homozygous or compound heterozygous PRUNE1 mutations were recently identified in five individuals with brain malformations from four families. We present a case of a 2-year-old male with a complex neurological phenotype and abnormalities on brain MRI. Re-annotation of clinical whole-exome sequencing data revealed a homozygous likely pathogenic variant in PRUNE1 (c...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211989/timothy-syndrome-1-genotype-without-syndactyly-and-major-extracardiac-manifestations
#2
Róbert Sepp, Lidia Hategan, Attila Bácsi, Judit Cseklye, László Környei, János Borbás, Márta Széll, Tamás Forster, István Nagy, Zoltán Hegedűs
Timothy syndrome 1 (TS1) is a rare genetic disorder characterized by multisystem abnormalities including QT prolongation, congenital heart defects, facial dysmorphism, episodic hypoglycemia, and neurological symptoms. A morphological hallmark of TS1 is syndactyly, present in all cases. TS1 is caused by the canonical p.Gly406Arg mutation in the alternatively spliced exon 8A in the CACNA1C gene, encoding for the main cardiac L-type calcium channel. A variant case of TS1 is reported. The proband had intermittent fetal bradycardia with heart rate of 72 bpm...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28209774/methyl-donor-supplementation-alters-cognitive-performance-and-motivation-in-female-offspring-from-high-fat-diet-fed-dams
#3
Sarah E McKee, Nicola M Grissom, Christopher T Herdt, Teresa M Reyes
During gestation, fetal nutrition is entirely dependent on maternal diet. Maternal consumption of excess fat during pregnancy has been linked to an increased risk of neurologic disorders in offspring, including attention deficit/hyperactivity disorder, autism, and schizophrenia. In a mouse model, high-fat diet (HFD)-fed offspring have cognitive and executive function deficits as well as whole-genome DNA and promoter-specific hypomethylation in multiple brain regions. Dietary methyl donor supplementation during pregnancy or adulthood has been used to alter DNA methylation and behavior...
February 16, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28208940/neurological-disorders-complicating-pregnancy-focus-on-obstetric-outcome
#4
Sandya Renukesh, Lavanya Rai
INTRODUCTION: Neurological disorders in pregnancy can be pregnancy related or can be caused by exacerbation of a pre-existing neurological condition or sometimes may even be detected for the first time during pregnancy in which it might be an incidental finding. The diagnosis and management of the neurological disorders in pregnancy is always a challenging task due to varied symptomatology and risks to the fetus. The evaluation and management should be performed in a stepwise fashion and requires multidisciplinary approach...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28207688/transmission-of-zika-virus-haiti-october-12-2015-september-10-2016
#5
Ito Journel, Lesly L Andrécy, Dudley Metellus, Jean S Pierre, Rose Murka Faublas, Stanley Juin, Amber M Dismer, David L Fitter, Daniel Neptune, Marie José Laraque, Salomon Corvil, Manise Pierre, Josiane Buteau, Donald Lafontant, Roopal Patel, Jean Frantz Lemoine, David W Lowrance, Macarthur Charles, Jacques Boncy, Paul Adrien
Zika virus disease is caused by infection with a flavivirus with broad geographic distribution and is most frequently transmitted by the bite of an infected mosquito. The disease was first identified in the World Health Organization's Region of the Americas in 2015 and was followed by a surge in reported cases of congenital microcephaly in Brazil; Zika virus disease rapidly spread to the rest of the region and the Caribbean (1), including Haiti. Infection with the virus is associated with adverse fetal outcomes (1) and rare neurologic complications in adults...
February 17, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/28203181/bilateral-superior-cerebellar-artery-embolic-occlusion-with-a-fetal-type-posterior-cerebral-artery-providing-collateral-circulation
#6
Taylor J Bergman, Rachael C Saporito, Thomas Hope
Bilateral infarction of the superior cerebellar arteries with sparing of the rest of the posterior circulation, particularly the posterior cerebral arteries, is an uncommon finding in neurological practice. Most commonly, the deficits of the superior cerebellar arteries and posterior cerebral arteries occur together due to the close proximity of their origins at the top of the basilar artery. A patient was transferred to the neurological intensive care unit with a history of recent-onset falls from standing, profound hypertension, dizziness, and headaches...
September 2016: Case Reports in Neurology
https://www.readbyqxmd.com/read/28192175/increased-anxiety-like-phenotype-in-female-guinea-pigs-following-reduced-neurosteroid-exposure-in-utero
#7
Angela L Cumberland, Hannah K Palliser, Gabrielle K Crombie, David W Walker, Jonathan J Hirst
Neurosteroids are essential for aiding proper fetal neurodevelopment. Pregnancy compromises such as preterm birth, prenatal stress and intrauterine growth restriction are associated with an increased risk of developing behavioural and mood disorders, particularly during adolescence. These pathologies involve the premature loss or alteration of trophic steroid hormones reaching the fetus leading to impaired neurodevelopment. While the specific programming mechanisms are yet to be fully elucidated, in adult life, dysfunctions of allopregnanolone action are prevalent in individuals with depression, post-traumatic stress disorder and anxiety disorders...
February 9, 2017: International Journal of Developmental Neuroscience
https://www.readbyqxmd.com/read/28185126/zika-virus-and-neuroscience-the-need-for-a-translational-collaboration
#8
Lavínia Schuler-Faccini, Paulo Roehe, Eduardo R Zimmer, André Quincozes-Santos, Adriano M de Assis, Elizabeth Obino Cirne Lima, Jorge Almeida Guimarães, Cesar Victora, Vivaldo Moura Neto, Diogo O Souza
Zika virus (ZIKV) has become a major challenge for scientists and health agencies. ZIKV's involvement with human fetal microcephaly and Guillain-Barré syndrome and its transmission through Aedes africanus and Aedes aegypti mosquitos highlighted the epidemiological and neurological risks associated to ZIKV infection. In 2013, ZIKV arrives in Brazil but the first outbreak in the country was reported in 2015. Here, we used the Web of Science as a search tool for comparing the evolution of world and Brazilian scientific research on dengue virus (DENV)-also present in mosquito-, ZIKV and microcephaly...
February 9, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28182608/prevalence-and-clinical-attributes-of-congenital-microcephaly-new-york-2013-2015
#9
Krishika A Graham, Deborah J Fox, Achala Talati, Cristian Pantea, Laura Brady, Sondra L Carter, Eric Friedenberg, Neil M Vora, Marilyn L Browne, Christopher T Lee
Congenital Zika virus infection can cause microcephaly and other severe fetal neurological anomalies (1). To inform microcephaly surveillance efforts and assess ascertainment sources, the New York State Department of Health and the New York City Department of Health and Mental Hygiene sought to determine the prevalence of microcephaly in New York during 2013-2015, before known importation of Zika virus infections. Suspected newborn microcephaly diagnoses were identified from 1) reports submitted by birth hospitals in response to a request and 2) queries of a hospital administrative discharge database for newborn microcephaly diagnoses...
February 10, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/28182335/how-to-monitor-pregnancies-complicated-by-fetal-growth-restriction-and-delivery-below-32-weeks
#10
W Ganzevoort, N Mensing van Charante, B Thilaganathan, F Prefumo, B Arabin, C M Bilardo, C Brezinka, J B Derks, A Diemert, J J Duvekot, E Ferrazzi, T Frusca, K Hecher, N Marlow, P Martinelli, E Ostermayer, A T Papageorghiou, D Schlembach, Ktm Schneider, T Todros, A Valcamonico, Gha Visser, A van Wassenaer-Leemhuis, C C Lees, H Wolf
OBJECTIVES: In the recent TRUFFLE study it appeared that, in pregnancies complicated by fetal growth restriction (FGR) between 26 and 32 weeks, monitoring of the ductus venosus (DV) combined with computerised cardiotocography (cCTG) as a trigger for delivery, increased the chance of infant survival without neurological impairment. However, concerns in interpretation were raised as DV monitoring appeared associated with a non-significant increase in fetal death, and part of the infants were delivered after 32 weeks, after which the study protocol was no longer applied...
February 9, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28158932/the-association-of-neonatal-morbidity-with-long-term-neurological-outcome-in-infants-who-were-growth-restricted-and-preterm-at-birth-secondary-analyses-from-truffle-trial-of-randomized-umbilical-and-fetal-flow-in-europe
#11
A G Van Wassenaer-Leemhuis, N Marlow, C Lees, H Wolf
OBJECTIVE: To study the relationship between neonatal morbidity (NNM) and two-year neurodevelopmental impairment (NDI) in surviving children after early fetal growth restriction (FGR). DESIGN: Secondary analysis of a European randomised trial (TRUFFLE) of delivery for very preterm fetuses dependent on venous Doppler or cardiotocographic criteria. SETTING: Tertiary perinatal centres, participants in TRUFFLE. POPULATION: 402 surviving children after early FGR...
February 3, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28157275/continuous-cardiotocography-ctg-as-a-form-of-electronic-fetal-monitoring-efm-for-fetal-assessment-during-labour
#12
REVIEW
Zarko Alfirevic, Declan Devane, Gillian Ml Gyte, Anna Cuthbert
BACKGROUND: Cardiotocography (CTG) records changes in the fetal heart rate and their temporal relationship to uterine contractions. The aim is to identify babies who may be short of oxygen (hypoxic) to guide additional assessments of fetal wellbeing, or determine if the baby needs to be delivered by caesarean section or instrumental vaginal birth. This is an update of a review previously published in 2013, 2006 and 2001. OBJECTIVES: To evaluate the effectiveness and safety of continuous cardiotocography when used as a method to monitor fetal wellbeing during labour...
February 3, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28141701/mechanisms-of-uterine-artery-dysfunction-in-pregnancy-complications
#13
Jude S Morton, Alison S Care, Sandra T Davidge
Pregnancy is a unique condition and the vascular processes that are required for this undertaking are both complex and extensive. In this review, we discuss the vascular adaptations which occur in the maternal uterine arterial bed to maintain blood supply to the fetal-placental unit. In complicated pregnancies, inadequate remodeling of the uterine arteries, hormonal imbalances, and pre-existing conditions such as obesity, hypertension, diabetes etc. may lead to maladaptations of the uterine vasculature that includes increased vasoconstriction and endothelial dysfunction...
January 30, 2017: Journal of Cardiovascular Pharmacology
https://www.readbyqxmd.com/read/28139432/clinical-features-and-prognostic-factors-of-listeriosis-the-monalisa-national-prospective-cohort-study
#14
Caroline Charlier, Élodie Perrodeau, Alexandre Leclercq, Benoît Cazenave, Benoît Pilmis, Benoît Henry, Amanda Lopes, Mylène M Maury, Alexandra Moura, François Goffinet, Hélène Bracq Dieye, Pierre Thouvenot, Marie-Noëlle Ungeheuer, Mathieu Tourdjman, Véronique Goulet, Henriette de Valk, Olivier Lortholary, Philippe Ravaud, Marc Lecuit
BACKGROUND: Listeriosis is a severe foodborne infection and a notifiable disease in France. We did a nationwide prospective study to characterise its clinical features and prognostic factors. METHODS: MONALISA was a national prospective observational cohort study. We enrolled eligible cases declared to the National Reference Center for Listeria (all microbiologically proven) between Nov 3, 2009, and July 31, 2013, in the context of mandatory reporting. The outcomes were analysis of clinical features, characterisation of Listeria isolates, and determination of predictors of 3-month mortality or persisting impairment using logistic regression...
January 28, 2017: Lancet Infectious Diseases
https://www.readbyqxmd.com/read/28125818/neural-stem-cells-and-fetal-onset-hydrocephalus
#15
Esteban M Rodríguez, María M Guerra
Fetal-onset hydrocephalus is not only a disorder of cerebrospinal fluid (CSF) dynamics, but also a brain disorder. How can we explain the inborn and, so far, irreparable neurological impairment in children born with hydrocephalus? We hypothesize that a cell junction pathology of neural stem cells (NSC) leads to two inseparable phenomena: hydrocephalus and abnormal neurogenesis. All neurons, glial cells, and ependymal cells of the mammalian central nervous system originate from the NSC forming the ventricular zone (VZ) and the neural progenitor cells (NPC) forming the subventricular zone...
January 27, 2017: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28125631/comprehensive-annotation-of-mature-peptides-and-genotypes-for-zika-virus
#16
Guangyu Sun, Christopher N Larsen, Nicole Baumgarth, Edward B Klem, Richard H Scheuermann
The rapid spread of Zika virus (ZIKV) has caused much concern in the global health community, due in part to a link to fetal microcephaly and other neurological illnesses. While an increasing amount of ZIKV genomic sequence data is being generated, an understanding of the virus molecular biology is still greatly lacking. A significant step towards establishing ZIKV proteomics would be the compilation of all proteins produced by the virus, and the resultant virus genotypes. Here we report for the first time such data, using new computational methods for the annotation of mature peptide proteins, genotypes, and recombination events for all ZIKV genomes...
2017: PloS One
https://www.readbyqxmd.com/read/28123079/zika-virus-targeting-in-the-developing-brain
#17
Anthony N van den Pol, Guochao Mao, Yang Yang, Sara Ornaghi, John N Davis
: Zika virus (ZIKV), a positive-sense RNA flavivirus, has attracted considerable attention recently for its potential to cause serious neurological problems including microcephaly, cortical thinning and blindness during early development. Recent findings suggest that ZIKV infection of the brain can occur not only during very early stages of development, but also in later fetal/early neonatal stages of maturation. Surprisingly, after peripheral inoculation of immunocompetent mice on the day of birth, the first cells targeted throughout the brain were isolated astrocytes...
January 25, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28116109/a-case-of-a-surviving-co-twin-diagnosed-with-porencephaly-and-renal-hypoplasia-after-a-single-intrauterine-fetal-death-at-21-weeks-of-gestation-in-a-monochorionic-monoamniotic-twin-pregnancy
#18
Hidenori Machino, Takayuki Iriyama, Toshio Nakayama, Atsushi Komatsu, Takeshi Nagamatsu, Yutaka Osuga, Tomoyuki Fujii
Monochorionic monoamniotic (MM) twin pregnancy carries a high risk of intrauterine fetal death (IUFD). Single IUFD in an MM twin pregnancy prior to 22 weeks of gestation has been reported to be strongly correlated with double twin demise. To our knowledge, there are no case reports on the natural course of a surviving co-twin in an MM twin pregnancy resulting in live birth after a single IUFD prior to 22 weeks of gestation. Here, we report a case of a surviving co-twin, after a single IUFD at 21 weeks of gestation in a MM twin pregnancy, with an antenatal diagnosis of renal hypoplasia and severe neurological damage leading to porencephaly, and live birth at 36 weeks of gestation...
January 2017: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/28114647/clinical-characteristics-risk-factors-and-outcomes-associated-with-neonatal-hemorrhagic-stroke-a-population-based-case-control-study
#19
Lauran Cole, Deborah Dewey, Nicole Letourneau, Bonnie J Kaplan, Kathleen Chaput, Clare Gallagher, Jacquie Hodge, Amalia Floer, Adam Kirton
Importance: Hemorrhage into the brain of term newborns often results in major injury and lifelong disability. The clinical epidemiology of neonatal hemorrhagic stroke (NHS) remains undefined, hindering the development of strategies to improve outcomes. Objective: To characterize the incidence, types, presentations, associated factors, and outcomes of neonatal hemorrhagic stroke. Design, Setting, and Participants: Population-based, nested case-control study...
January 17, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28101245/apobec3b-expression-in-human-leptomeninges-and-meningiomas
#20
Mahlon D Johnson, Jay E Reeder, Mary O'Connell
Nucleic acid-editing enzymes of the apolipoprotein B mRNA-editing enzyme (APOBEC) family have been associated with somatic mutation in cancer. However, the role of APOBEC catalytic subunit 3B (APOBEC3B) editing in the pathogenesis of base substitutions in meningiomas is unknown. In the present study, the expression of APOBEC3B was examined by reverse transcription-quantitative polymerase chain reaction (RT-qPCR) and western blot analyses in five fetal and one adult human leptomeninges and 38 meningiomas. Genomic DNA was sequenced using the Illumina Tru-Seq Cancer Panel...
December 2016: Oncology Letters
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