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Prenatal disability

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https://www.readbyqxmd.com/read/28427374/prenatal-determinants-of-physical-activity-and-cardiorespiratory-fitness-in-adolescence-northern-finland-birth-cohort-1986-study
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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 4, 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
#7
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...
March 29, 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
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/28320639/exposure-to-polycyclic-aromatic-hydrocarbons-and-volatile-organic-compounds-among-recently-pregnant-rural-guatemalan-women-cooking-and-heating-with-solid-fuels
#13
John R Weinstein, Renée Asteria-Peñaloza, Anaité Diaz-Artiga, Gilberto Davila, S Katharine Hammond, Ian T Ryde, Joel N Meyer, Neal Benowitz, Lisa M Thompson
BACKGROUND: Household air pollution is a major contributor to death and disability worldwide. Over 95% of rural Guatemalan households use woodstoves for cooking or heating. Woodsmoke contains carcinogenic or fetotoxic polycyclic aromatic hydrocarbons (PAHs) and volatile organic compounds (VOCs). Increased PAHs and VOCs have been shown to increase levels of oxidative stress. OBJECTIVE: We examined PAH and VOC exposures among recently pregnant rural Guatemalan women exposed to woodsmoke and compared exposures to levels seen occupationally or among smokers...
March 10, 2017: International Journal of Hygiene and Environmental Health
https://www.readbyqxmd.com/read/28306397/public-views-on-genetics-and-genetic-testing-a-survey-of-the-general-public-in-belgium
#14
Davit Chokoshvili, Carmen Belmans, Roxanne Poncelet, Sofie Sanders, Deborah Vaes, Danya Vears, Sandra Janssens, Isabelle Huys, Pascal Borry
AIMS: To explore the views of the Belgian public on various topics surrounding genetics and genetic testing (GT). MATERIALS AND METHODS: A written questionnaire was administered to visitors of the annual cartoon festival in Knokke-Heist, Belgium, during the summer of 2014. The main theme of the festival was challenges and progress in human genetics and it was attended by more than 100,000 visitors. RESULTS: The survey was completed by 1182 respondents, resulting in a demographically diverse sample with a mean age of 48...
March 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28286810/epidemiology-and-related-risk-factors-of-preterm-labor-as-an-obstetrics-emergency
#15
Ali Asghar Halimi Asl, Saeed Safari, Mohsen Parvareshi Hamrah
INTRODUCTION: Preterm birth is still a major health problem throughout the world, which results in 75% of neonatal mortality. Preterm labor not only inflicts financial and emotional distress, it may also lead to permanent disability. The present study was conducted to determine the related risk factors and preventive measures of preterm labor. METHODS: This retrospective cross-sectional study assessed all preterm labors, as well as an equal number of term labors, during seven years, at an educational hospital...
2017: Emergency (Tehran, Iran)
https://www.readbyqxmd.com/read/28280513/spectrum-of-congenital-anomalies-among-surgical-patients-at-a-tertiary-care-centre-over-4-years
#16
Arushi Agarwal, K N Rattan, Ankur Dhiman, Ananta Rattan
Introduction. Congenital anomalies are important causes of childhood death, chronic illness, and disability in many countries. Congenital malformations are rapidly emerging as one of the major worldwide problems. Aim. To study the percentage of various congenital anomalies among the patients admitted in Department of Pediatric Surgery at a tertiary care centre over a period of four years from 2011 to 2015 in our centre. Results. Neural tube defects were found to be the most common anomalies in 24.3% of the children admitted...
2017: International Journal of Pediatrics
https://www.readbyqxmd.com/read/28273668/large-duplications-can-be-benign-copy-number-variants-a-case-of-a-3-6-mb-xq21-33-duplication
#17
Marie-Laure Maurin, Chloé Arfeuille, Pascale Sonigo, Sophie Rondeau, Michel Vekemans, Catherine Turleau, Yves Ville, Valérie Malan
Segmental aneusomies are usually associated with clinical consequences, but an increasing number of nonpathogenic cytogenetically visible as well as large cryptic chromosomal imbalances have been reported. Here, we report a 3.6-Mb Xq21.33 microduplication detected prenatally on a female fetus which was inherited from a phenotypically normal mother and grandfather. It is assumed that male patients harboring Xq or Xp duplication present with syndromic intellectual disability because of functional disomy of the corresponding genes...
March 9, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28260505/copy-number-variations-with-isolated-fetal-ventriculomegaly
#18
P Hu, Y Wang, R Sun, L Cao, X Chen, C Liu, C Luo, D Ma, W Wang, X Fu, W Shi, S Yi, K Zhang, H Liu, Z Xu
BACKGROUND: Copy Number Variations (CNVs) are an important genetic cause of a number of neurodevelopmental disorders (NDs). However, the association between CNVs and the development and prognosis of isolated fetal ventriculomegaly (IMV) is unclear. OBJECTIVES: To investigate possible associations between CNVs and the development of fetal IMV. METHODS: This retrospective study recruited 154 subjects with ultrasound-confirmed fetal IMV and 190 subjects in a control cohort who underwent a high-risk prenatal serum screening program...
March 3, 2017: Current Molecular Medicine
https://www.readbyqxmd.com/read/28254236/recurrent-2q13-microduplication-encompassing-mall-nphp1-rgpd6-and-bub1-associated-with-autism-spectrum-disorder-intellectual-disability-and-liver-disorder
#19
Chih-Ping Chen, Shuan-Pei Lin, Chung-Lin Lee, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Wayseen Wang
OBJECTIVE: We present recurrent 2q13 microduplication in a family with autism spectrum disorder (ASD), intellectual disability, and liver disorder. CASE REPORT: A 45-year-old woman and her 52-year-old husband were referred for genetic counseling because of mental and liver disorders in their two sons and their planning for prenatal diagnosis of familial disorders in the future pregnancy. She and her husband were normal and healthy, but their 21-year-old elder son had suffered from ASD, severe intellectual disability, poor motor function, liver cirrhosis, and esophageal varices, and their 19-year-old younger son had suffered from ASD, mild intellectual disability, poor balance and coordination, hepatosplenomegaly, fatty liver, and mild liver cirrhosis...
February 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28243583/cerebral-palsy-trends-in-epidemiology-and-recent-development-in-prenatal-mechanisms-of-disease-treatment-and-prevention
#20
REVIEW
Moshe Stavsky, Omer Mor, Salvatore Andrea Mastrolia, Shirley Greenbaum, Nandor Gabor Than, Offer Erez
Cerebral palsy (CP) is the most common motor disability in childhood. This syndrome is the manifestation of intrauterine pathologies, intrapartum complications, and the postnatal sequel, especially among preterm neonates. A double hit model theory is proposed suggesting that an intrauterine condition along with intrapartum or postnatal insult lead to the development of CP. Recent reports demonstrated that treatment during the process of preterm birth such as magnesium sulfate and postnatal modalities such as cooling may prevent or reduce the prevalence of this syndrome...
2017: Frontiers in Pediatrics
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