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https://www.readbyqxmd.com/read/28343629/biallelic-variants-in-otud6b-cause-an-intellectual-disability-syndrome-associated-with-seizures-and-dysmorphic-features
#1
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...
March 21, 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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
https://www.readbyqxmd.com/read/28225843/-poverty-and-mental-disability-in-the-criminal-law-the-invisibles
#11
Ezequiel N Mercurio
In recent decades neuroscience research show the negative consequences of poverty in cognitive development. Environmental factors, such as material deprivation, exposure to stressful situations, violence, nutritional deprivation, environmental toxins may shape the developing brain. The changes of the structure and function of the brain since prenatal stages and their consequences can remain stable throughout the life cycle except early interventions are made. Research investigating have found significant link between child poverty and function and structural brain focusing on prefrontal cortex (i...
May 2016: Vertex: Revista Argentina de Psiquiatriá
https://www.readbyqxmd.com/read/28222133/maternal-psychological-stress-induced-developmental-disability-neonatal-mortality-and-stillbirth-in-the-offspring-of-wistar-albino-rats
#12
Sakthivel Govindaraj, Annadurai Shanmuganathan, Ravindran Rajan
BACKGROUND: Stress is an inevitable part of life, and maternal stress during the gestational period has dramatic effects in the early programming of the physiology and behavior of offspring. The developmental period is crucial for the well-being of the offspring. Prenatal stress influences the developmental outcomes of the fetus, in part because the developing brain is particularly vulnerable to stress. The etiology of birth defects of the offspring is reported to be 30-40% genetic and 7-10% multifactorial, with the remaining 50% still unknown and also there is no clear cause for neonatal mortality and still-birth...
2017: PloS One
https://www.readbyqxmd.com/read/28194288/variability-in-clinical-presentation-of-neonatal-stroke-report-of-four-cases
#13
Sonia Joseph, Dimitrios Angelis, Robert Bennett, Bhargavi Kola, Amanda Hughes
Neonatal stroke can be a cause of long term neurodevelopmental disability, seizures, and impaired cognitive function. We present four cases of neonatal stroke, associated with different risk factors and clinical presentations. Two of these newborns were born to mothers with no prenatal care.
2017: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/28186713/fetal-alcohol-research-caring-for-patients-with-prenatal-alcohol-exposure-a-needs-assessment
#14
Vincent C Smith, Phillip Matthias, Yasmin N Senturias, Renee M Turchi, Janet F Williams
BACKGROUND: Prenatal alcohol exposure (PAE) is the United States' most common preventable cause of birth defects and intellectual and developmental disabilities collectively referred to as Fetal Alcohol Spectrum Disorders (FASD). OBJECTIVES: This study was designed to identify gaps in pediatric providers' knowledge and practices regarding FASD patient identification, diagnosis, management and referral, and to inform needs-based FASD resource development. METHODS: Pediatric providers (pediatricians, trainees, nurse practitioners) were exposed to survey links embedded in newsletters electronically distributed to the membership of two national professional societies...
January 27, 2017: Journal of Population Therapeutics and Clinical Pharmacology
https://www.readbyqxmd.com/read/28179814/prenatal-stress-immune-programming-of-sex-differences-in-comorbidity-of-depression-and-obesity-metabolic-syndrome
#15
Jill M Goldstein, Laura Holsen, Grace Huang, Bradley D Hammond, Tamarra James-Todd, Sara Cherkerzian, Taben M Hale, Robert J Handa
Major depressive disorder (MDD) is the number one cause of disability worldwide and is comorbid with many chronic diseases, including obesity/metabolic syndrome (MetS). Women have twice as much risk for MDD and comorbidity with obesity/MetS as men, although pathways for understanding this association remain unclear. On the basis of clinical and preclinical studies, we argue that prenatal maternal stress (ie, excess glucocorticoid expression and associated immune responses) that occurs during the sexual differentiation of the fetal brain has sex-dependent effects on brain development within highly sexually dimorphic regions that regulate mood, stress, metabolic function, the autonomic nervous system, and the vasculature...
December 2016: Dialogues in Clinical Neuroscience
https://www.readbyqxmd.com/read/28164814/environmental-justice-and-underserved-communities
#16
REVIEW
Vincent Morelli, Carol Ziegler, Omotayo Fawibe
Underserved communities suffer from environmental inequities. Gases lead to hypoxia and respiratory compromise, ozone to increased respiratory illnesses and decreased mental acuity, and mercury to prenatal cognitive disabilities and antisocial behaviors. Lead toxicity is associated with developmental delays. Cadmium is linked with cancer. The smaller sizes of air pollution particulate matter are pathogenic and are associated with cardiovascular and pulmonary disease and nervous system disorders. Bisphenol A is being studied for possible links to cancer and pregnancy risks...
March 2017: Primary Care
https://www.readbyqxmd.com/read/28160395/a-novel-disorder-of-sex-development-characterized-by-progressive-regression-of-testicular-function-and-cystic-leukoencephalopathy
#17
Massimiliano Rossi, Alexandre Vasiljevic, Audrey Labalme, Frédérique Dijoud, Delphine Mallet-Motak, Carmen Adina Petcu, Renaud Touraine, Christine Vianey-Saban, Laurent Guibaud, Patrick Edery, Damien Sanlaville, Yves Morel
We report a novel syndromic disorder of sex development observed in three male siblings, presenting with the association of micropenis without hypospadias, cryptorchidism, very low level of antimüllerian hormone in the neonatal period, and no persistent müllerian duct structures, suggesting a progressive regression of testicular function. The patients described here showed a striking neurological involvement including bilateral periventricular cysts observed in the anterior part of the frontal horns prenatally and increasing in size and number over time, associated with infra and supratentorial parenchymal atrophy, dilated ventricular system, corpus callosum hypoplasia, severe intellectual disability, and epilepsy...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28139839/a-15-year-long-southern-blotting-analysis-of-fmr1-to-detect-female-carriers-and-for-prenatal-diagnosis-of-fragile-x-syndrome-in-taiwan
#18
Ching-Cherng Tzeng, Li-Ping Tsai, Yin-Kuang Chang, Yi-Ju Hung, Yih-Yuan Chang, Yu-Ping Su, Jeng-Jier Jiang, Hsi-Mi Liang
Here, we review the results of Southern blotting analyses of the FMR1 gene performed in our reference laboratory in Taiwan over a 15-year period. In total, 725 high-risk women with a family history of fragile X syndrome (FXS) or idiopathic intellectual disability, 3,911 low-risk pregnant women without such family history, and prenatal diagnosis data for 32 foetuses from 24 carrier mothers were included. Only two carriers were in the low-risk group, which indicated a prevalence of 1/1,955 women (95% confidence interval: 1/7,156-1/539)...
January 31, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28125440/fetal-alcohol-spectrum-disorder-in-africa
#19
Colleen M Adnams
PURPOSE OF REVIEW: This review aims to summarize data published in the scientific literature and available on official websites on fetal alcohol spectrum disorder (FASD) in Africa. RECENT FINDINGS: There is a paucity of published literature and evidence-based information on prenatal exposure to alcohol in the African continent and the majority of the continent's literature on FASD emanates from South Africa. A small number of scientific publications document FASD and drinking in pregnancy in other Sub-Saharan African countries and these findings provide evidence that FASD occurs across the continent...
March 2017: Current Opinion in Psychiatry
https://www.readbyqxmd.com/read/28104401/leading-causes-of-preterm-delivery-as-risk-factors-for-intraventricular-hemorrhage-in-very-preterm-infants-results-of-the-epipage-2-cohort-study
#20
Marie Chevallier, Thierry Debillon, Veronique Pierrat, Pierre Delorme, Gilles Kayem, Mélanie Durox, François Goffinet, Stephane Marret, Pierre Yves Ancel
BACKGROUND: Intraventricular hemorrhage is a major risk factor for neurodevelopmental disabilities in preterm infants. However, few studies have investigated how pregnancy complications responsible for preterm delivery are related to intraventricular hemorrhage. OBJECTIVE: We sought to investigate the association between the main causes of preterm delivery and intraventricular hemorrhage in very preterm infants born in France during 2011 between 22-31 weeks of gestation...
January 16, 2017: American Journal of Obstetrics and Gynecology
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