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Prenatal disability

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https://www.readbyqxmd.com/read/28542302/influence-of-catch-up-growth-on-spatial-learning-and-memory-in-a-mouse-model-of-intrauterine-growth-restriction
#1
Cristina Duran Fernandez-Feijoo, Cristina Carrasco Carrasco, Núria Villalmazo Francisco, Judit Cebrià Romero, Jose Ramon Fernández Lorenzo, J C Jiménez-Chillaron, Marta Camprubí Camprubí
BACKGROUND: Intrauterine growth restriction (IUGR) and rapid postnatal weight gain or catch up growth (CUG) increase the susceptibility to metabolic syndrome during adult life. Longitudinal studies have also revealed a high incidence of learning difficulties in children with IUGR. The aim of the present study was to investigate the effect of nutrition and CUG on learning memory in an IUGR animal model. We hypothesized that synaptic protein expression and transcription, an essential mechanism for memory consolidation, might be affected by intrauterine undernutrition...
2017: PloS One
https://www.readbyqxmd.com/read/28516217/prenatal-surgery-for-myelomeningocele-review-of-the-literature-and-future-directions
#2
Gregory G Heuer, Julie S Moldenhauer, N Scott Adzick
Open spina bifida or myelomeningocele (MMC) is one of the most common serious congenital malformations. Historically, this condition has been treated with closure of the MMC defect shortly after birth. The goal of postnatal closure is to cover the exposed spinal cord and prevent infection. However, postnatal surgery does not reverse or prevent the neurologic injury seen in MMC, reverse hindbrain herniation, or prevent hydrocephalus. The neurologic defects result from primary incomplete neurulation and secondary chronic prenatal damage to the exposed neural elements through mechanical and chemical trauma...
May 17, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28503387/rubinstein-taybi-syndrome-associated-with-pituitary-macroadenoma-a-case-report
#3
Yasamin Olyaei, J Manuel Sarmiento, Serguei I Bannykh, Doniel Drazin, Robert T Naruse, Wesley King
Rubinstein-Taybi Syndrome (RSTS) is an autosomal dominant disorder that is classically characterized by prenatal and postnatal growth restriction, microcephaly, dysmorphic craniofacial features, broad thumbs and toes, and intellectual disability. We describe the first reported case of a pituitary macroadenoma associated with RSTS. A 39-year-old Caucasian female with a past medical history of RSTS diagnosed at age two was found to have a gadolinium-enhancing pituitary mass on magnetic resonance imaging (MRI) of the brain three years ago during workup for migraine-like headaches...
April 11, 2017: Curēus
https://www.readbyqxmd.com/read/28492524/sociodemographic-and-attitudinal-predictors-of-simultaneous-and-redundant-multiple-marker-and-cell-free-dna-screening-among-women-aged-%C3%A2-35-years
#4
A K Lewkowitz, A J Kaimal, K Thao, A O'Leary, O Nseyo, M Kuppermann
OBJECTIVE: To identify characteristics associated with undergoing cell-free DNA (cfDNA) and multiple marker screening (MMS) simultaneously or redundantly (after receiving negative results from the first screening test) among women aged ⩾35 years. STUDY DESIGN: Participants presenting for prenatal testing completed a questionnaire that included measures of pregnancy worry and attitudes toward potential testing outcomes; data on prenatal test use was obtained via medical record review...
May 11, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/28467426/pkb%C3%AE-akt3-loss-of-function-causes-learning-and-memory-deficits-and-deregulation-of-akt-mtorc2-signaling-relevance-for-schizophrenia
#5
Kristy R Howell, Kirsten Floyd, Amanda J Law
Psychiatric genetic studies have identified genome-wide significant loci for schizophrenia. The AKT3/1q44 locus is a principal risk region and gene-network analyses identify AKT3 polymorphisms as a constituent of several neurobiological pathways relevant to psychiatric risk; the neurobiological mechanisms remain unknown. AKT3 shows prenatal enrichment during human neocortical development and recurrent copy number variations involving the 1q43-44 locus are associated with cortical malformations and intellectual disability, implicating an essential role in early brain development...
2017: PloS One
https://www.readbyqxmd.com/read/28465847/prenatal-diagnosis-of-a-2-5%C3%A2-mb-de-novo-17q24-1q24-2-deletion-encompassing-kpna2-and-psmd12-genes-in-a-fetus-with-craniofacial-dysmorphism-equinovarus-feet-and-syndactyly
#6
Marie-Emmanuelle Naud, Lucie Tosca, Jelena Martinovic, Julien Saada, Corinne Métay, Loïc Drévillon, Virginie Benoit, Sophie Brisset, Gérard Tachdjian
Interstitial 17q24.1 or 17q24.2 deletions were reported after conventional cytogenetic analysis or chromosomal microarray analysis in patients presenting intellectual disability, facial dysmorphism, and/or malformations. We report on a fetus with craniofacial dysmorphism, talipes equinovarus, and syndactyly associated with a de novo 2.5 Mb 17q24.1q24.2 deletion. Among the deleted genes, KPNA2 and PSMD12 are discussed for the correlation with the fetal phenotype. This is the first case of prenatal diagnosis of 17q24...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28464862/severe-congenital-microcephaly-with-ap4m1-mutation-a-case-report
#7
Sarah Duerinckx, Helene Verhelst, Camille Perazzolo, Philippe David, Laurence Desmyter, Isabelle Pirson, Marc Abramowicz
BACKGROUND: Autosomal recessive defects of either the B1, E1, M1 or S1 subunit of the Adaptor Protein complex-4 (AP4) are characterized by developmental delay, severe intellectual disability, spasticity, and occasionally mild to moderate microcephaly of essentially postnatal onset. CASE PRESENTATION: We report on a patient with severe microcephaly of prenatal onset, and progressive spasticity, developmental delay, and severe intellectual deficiency. Exome sequencing showed a homozygous mutation in AP4M1, causing the replacement of an arginine by a stop codon at position 338 of the protein (p...
May 2, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28450094/adverse-effects-of-prenatal-and-early-postnatal-exposure-to-antiepileptic-drugs-validation-from-clinical-and-basic-researches
#8
REVIEW
Kimino Fujimura, Takayuki Mitsuhashi, Takao Takahashi
Epilepsy requires the long-term administration of antiepileptic drugs (AEDs), and thus, we must consider the effects of prenatal AED exposure on fetus when treating female patients of child bearing age. Large prospective clinical researches in humans have demonstrated the following: (1) prenatal exposure to valproic acid (VPA), carbamazepine, and phenobarbital increases the risk of congenital malformations in a dose-dependent manner and (2) prenatal exposure to VPA increases the risk of higher brain function impairments including intellectual disabilities and autistic spectrum disorders in the offspring...
April 24, 2017: Brain & Development
https://www.readbyqxmd.com/read/28427374/prenatal-determinants-of-physical-activity-and-cardiorespiratory-fitness-in-adolescence-northern-finland-birth-cohort-1986-study
#9
Marjaana Tikanmäki, Tuija Tammelin, Marja Vääräsmäki, Marika Sipola-Leppänen, Satu Miettola, Anneli Pouta, Marjo-Riitta Järvelin, Eero Kajantie
BACKGROUND: Lower levels of physical activity and cardiorespiratory fitness are key risk factors of chronic adult diseases. Physical activity and cardiorespiratory fitness are predicted by birth weight, but the underlying parental and pregnancy-related factors remain largely unknown. We examined how prenatal determinants are associated with physical activity and cardiorespiratory fitness in adolescence. METHODS: Of the 16-year-old members of the population-based Northern Finland Birth Cohort 1986 (NFBC 1986), 6682 singletons with no major physical disability reported their amount of physical activity outside school hours, and 4706 completed a submaximal cycle ergometer test assessing cardiorespiratory fitness...
April 20, 2017: BMC Public Health
https://www.readbyqxmd.com/read/28403928/-prenatal-diagnosis-of-neural-tube-defects-correlation-between-prenatal-and-postnatal-data
#10
L Matuszewski, E Perdriolle-Galet, I Clerc-Urmès, P Bach-Segura, O Klein, J P Masutti, O Morel
OBJECTIVES: Neural tube defects (NTD) are congenital anomalies that can cause significant neurological long-term disabilities. Theses malformations are accessible to prenatal diagnosis and quite recently, to in utero repair for some myelomeningoceles. The aim of this study was to analyse the correlation between prenatal and postnatal examinations. MATERIALS AND METHODS: A descriptive retrospective monocentric study has been conducted between January 2004 and December 2014 in a tertiary care maternity...
March 2017: J Gynecol Obstet Hum Reprod
https://www.readbyqxmd.com/read/28398680/cytomegalovirus-infection-in-pregnancy
#11
REVIEW
Nicole L Davis, Caroline C King, Athena P Kourtis
Cytomegalovirus (CMV) is a DNA herpesvirus that is common worldwide. The two known main sources of primary CMV infection during pregnancy are through sexual activity and contact with young children. Primary infection occurs in approximately 1 to 4% of pregnancies, and is mostly asymptomatic in immunocompetent adults. However, primary infection may manifest as a mild mononucleosis or flu-like syndrome with persistent fever and fatigue. CMV can be transmitted from mother-to-child in utero, intrapartum, or during breastfeeding...
March 15, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28397838/mapping-autosomal-recessive-intellectual-disability-combined-microarray-and-exome-sequencing-identifies-26-novel-candidate-genes-in-192-consanguineous-families
#12
R Harripaul, N Vasli, A Mikhailov, M A Rafiq, K Mittal, C Windpassinger, T I Sheikh, A Noor, H Mahmood, S Downey, M Johnson, K Vleuten, L Bell, M Ilyas, F S Khan, V Khan, M Moradi, M Ayaz, F Naeem, A Heidari, I Ahmed, S Ghadami, Z Agha, S Zeinali, R Qamar, H Mozhdehipanah, P John, A Mir, M Ansar, L French, M Ayub, J B Vincent
Approximately 1% of the global population is affected by intellectual disability (ID), and the majority receive no molecular diagnosis. Previous studies have indicated high levels of genetic heterogeneity, with estimates of more than 2500 autosomal ID genes, the majority of which are autosomal recessive (AR). Here, we combined microarray genotyping, homozygosity-by-descent (HBD) mapping, copy number variation (CNV) analysis, and whole exome sequencing (WES) to identify disease genes/mutations in 192 multiplex Pakistani and Iranian consanguineous families with non-syndromic ID...
April 11, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28384392/missed-opportunities-unidentified-genetic-risk-factors-in-prenatal-care
#13
Trissa McClatchey, Erica Lay, Melissa Strassberg, Ignatia B Van den Veyver
OBJECTIVE: Prenatal and preconception care guidelines recommend obtaining family history to screen for reproductive genetic risk. The effectiveness of this screening and subsequent referral for genetic counseling is not well established. This study describes how often pregnant women with reproductive genetic risks were not referred for prenatal genetic counseling and the indications frequently missed. METHOD: We retrospectively reviewed genetic consultation medical records for first-trimester screen pretest counseling...
April 6, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28377521/prenatal-loss-of-father-during-world-war-one-is-predictive-of-a-reduced-lifespan-in-adulthood
#14
Nicolas Todd, Alain-Jacques Valleron, Pierre Bougnères
Although early-life stress is known to alter health, its long-term consequences on mortality remain largely unknown. Thanks to unique French legislation established in 1917 for war orphans and children of disabled soldiers, we were able to study the adult mortality of individuals born in 1914-1916 whose fathers were killed during World War 1. Vital information and socio-demographic characteristics were extracted manually from historical civil registers for 5,671 children born between 1 August 1914 and 31 December 1916 who were granted the status of "pupille de la Nation" (orphan of the Nation)...
April 18, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28371070/molecular-analysis-of-a-novel-intragenic-deletion-in-gpc3-in-three-cousins-with-simpson-golabi-behmel-syndrome
#15
Julia Schmidt, Ronja Hollstein, Frank J Kaiser, Gabriele Gillessen-Kaesbach
Simpson-Golabi-Behmel syndrome (SGBS) is characterized by multiple congenital abnormalities, pre/postnatal overgrowth, distinctive craniofacial features intellectual disability (ID) of variable degree, and an increased risk for embryonal tumors. SGBS is X-linked recessive and caused by deletions, duplications, and point mutations in GPC3, encoding a membrane associated cell surface heparan sulfate proteoglycan named glypican 3. GPC3 plays essential roles in the regulation of cell growth signaling and cell division...
May 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28368015/early-neurotrophic-pharmacotherapy-rescues-developmental-delay-and-alzheimer-s-like-memory-deficits-in-the-ts65dn-mouse-model-of-down-syndrome
#16
Syed Faraz Kazim, Julie Blanchard, Riccardo Bianchi, Khalid Iqbal
Down syndrome (DS), caused by trisomy 21, is the most common genetic cause of intellectual disability and is associated with a greatly increased risk of early-onset Alzheimer's disease (AD). The Ts65Dn mouse model of DS exhibits several key features of the disease including developmental delay and AD-like cognitive impairment. Accumulating evidence suggests that impairments in early brain development caused by trisomy 21 contribute significantly to memory deficits in adult life in DS. Prenatal genetic testing to diagnose DS in utero, provides the novel opportunity to initiate early pharmacological treatment to target this critical period of brain development...
April 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28360987/a-diagnosis-to-consider-in-an-adult-patient-with-facial-features-and-intellectual-disability-williams-syndrome
#17
Özlem Akgün Doğan, Pelin Özlem Şimşek Kiper, Gülen Eda Utine, Mehmet Alikaşifoğlu, Koray Boduroğlu
Williams syndrome (OMIM #194050) is a rare, well-recognized, multisystemic genetic condition affecting approximately 1/7,500 individuals. There are no marked regional differences in the incidence of Williams syndrome. The syndrome is caused by a hemizygous deletion of approximately 28 genes, including ELN on chromosome 7q11.2. Prenatal-onset growth retardation, distinct facial appearance, cardiovascular abnormalities, and unique hypersocial behavior are among the most common clinical features. Here, we report the case of a patient referred to us with distinct facial features and intellectual disability, who was diagnosed with Williams syndrome at the age of 37 years...
March 2017: Korean Journal of Family Medicine
https://www.readbyqxmd.com/read/28358903/clusters-of-amniotic-fluid-cells-and-their-associated-early-neuroepithelial-markers-in-experimental-myelomeningocele-correlation-with-astrogliosis
#18
Jolanta Zieba, Amanda Miller, Oleg Gordiienko, George M Smith, Barbara Krynska
Myelomeningocele (MMC) is the most common and severe disabling type of spina bifida resulting in the exposure of vulnerable spinal cord to the hostile intrauterine environment. In this study, we sought to examine the cellular content of fetal amniotic fluid (AF) in MMC and explore a correlation between these cells and pathological development of MMC. MMC was induced in fetal rats by exposing pregnant mothers to all-trans retinoic acid and AF samples were collected before term. Cells were isolated from AF samples and morphologically and phenotypically characterized in short-term cultures...
2017: PloS One
https://www.readbyqxmd.com/read/28343629/biallelic-variants-in-otud6b-cause-an-intellectual-disability-syndrome-associated-with-seizures-and-dysmorphic-features
#19
Teresa Santiago-Sim, Lindsay C Burrage, Frédéric Ebstein, Mari J Tokita, Marcus Miller, Weimin Bi, Alicia A Braxton, Jill A Rosenfeld, Maher Shahrour, Andrea Lehmann, Benjamin Cogné, Sébastien Küry, Thomas Besnard, Bertrand Isidor, Stéphane Bézieau, Isabelle Hazart, Honey Nagakura, LaDonna L Immken, Rebecca O Littlejohn, Elizabeth Roeder, Bulent Kara, Katia Hardies, Sarah Weckhuysen, Patrick May, Johannes R Lemke, Orly Elpeleg, Bassam Abu-Libdeh, Kiely N James, Jennifer L Silhavy, Mahmoud Y Issa, Maha S Zaki, Joseph G Gleeson, John R Seavitt, Mary E Dickinson, M Cecilia Ljungberg, Sara Wells, Sara J Johnson, Lydia Teboul, Christine M Eng, Yaping Yang, Peter-Michael Kloetzel, Jason D Heaney, Magdalena A Walkiewicz
Ubiquitination is a posttranslational modification that regulates many cellular processes including protein degradation, intracellular trafficking, cell signaling, and protein-protein interactions. Deubiquitinating enzymes (DUBs), which reverse the process of ubiquitination, are important regulators of the ubiquitin system. OTUD6B encodes a member of the ovarian tumor domain (OTU)-containing subfamily of deubiquitinating enzymes. Herein, we report biallelic pathogenic variants in OTUD6B in 12 individuals from 6 independent families with an intellectual disability syndrome associated with seizures and dysmorphic features...
April 6, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28341692/-we-both-just-wanted-to-be-normal-parents-a-qualitative-study-of-the-experience-of-maternity-care-for-women-with-learning-disability
#20
Reem Malouf, Jenny McLeish, Sara Ryan, Ron Gray, Maggie Redshaw
BACKGROUND: More women with learning disability (LD) are becoming mothers. Women with LD have rights to equal access to maternity care that meets their needs, however, many have poor pregnancy and birth outcomes compared to other women in the UK. Research is limited in this area. OBJECTIVES: The aim of the study was to explore the lived experiences of pregnancy, childbirth, prenatal and postnatal care and services received by this group of women in the UK, including their expressed information and support needs relating to maternity care...
March 24, 2017: BMJ Open
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