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Prenatal disability

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https://www.readbyqxmd.com/read/28194288/variability-in-clinical-presentation-of-neonatal-stroke-report-of-four-cases
#1
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
#2
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
#3
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
#4
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
#5
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...
February 4, 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
#6
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
#7
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
#8
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: 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 and 31 weeks of gestation...
January 16, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28068486/the-changing-epidemiology-of-autism-spectrum-disorders
#9
Kristen Lyall, Lisa Croen, Julie Daniels, M Daniele Fallin, Christine Ladd-Acosta, Brian K Lee, Bo Y Park, Nathaniel W Snyder, Diana Schendel, Heather E Volk, Gayle C Windham, Craig Newschaffer
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with lifelong impacts. Genetic and environmental factors contribute to ASD etiology, which remains incompletely understood. Research on ASD epidemiology has made significant advances in the past decade. Current prevalence is estimated to be at least 1.5% in developed countries, with recent increases primarily among those without comorbid intellectual disability. Genetic studies have identified a number of rare de novo mutations and gained footing in the areas of polygenic risk, epigenetics, and gene-by-environment interaction...
December 21, 2016: Annual Review of Public Health
https://www.readbyqxmd.com/read/28043739/canadian-cardiovascular-society-canadian-pediatric-cardiology-association-position-statement-on-pulse-oximetry-screening-in-newborns-to-enhance-detection-of-critical-congenital-heart-disease
#10
Kenny K Wong, Anne Fournier, Deborah S Fruitman, Lisa Graves, Derek G Human, Michael Narvey, Jennifer L Russell
Congenital heart disease is the most common congenital malformation and approximately 3 in 1000 newborns have critical congenital heart disease (CCHD). Timely diagnosis affects morbidity, mortality, and disability, and newborn pulse oximetry screening has been studied to enhance detection of CCHD. In this position statement we present an evaluation of the literature for pulse oximetry screening. Current detection strategies including prenatal ultrasound examination and newborn physical examination are limited by low diagnostic sensitivity...
February 2017: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/28025631/amniotic-band-syndrome-perinatal-hospice-and-palliative-care-versus-active-management
#11
Shadi Rezai, Justin Faye, Annika Chadee, Sri Gottimukkala, Ruchi Upadhyay, Carla Lara, Benamanahalli H Rajegowda, Andrew D Corwin, Rasila V Lala, Jessica Vernon, Dilfuza Nuritdinova, Stephen Chasen, Cassandra E Henderson
Introduction. Amniotic band syndrome and sequence are a relatively rare condition in which congenital anomalies occur as a result of the adherence and entrapment of fetal parts with coarse fibrous bands of the amniotic membrane. A large percentage of reported cases have an atypical gestational history. The frequency of this obstetric complication is not affected by fetal gender, genetic abnormality, or prenatal infection. Case. A 21-year-old, G1P0 female parturient at 18 weeks and 5 days with a single intrauterine gestation during a routine ultrasound evaluation was noted to have amniotic band sequence...
2016: Case Reports in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28011263/prenatal-alcohol-exposure-potentiates-chronic-neuropathic-pain-spinal-glial-and-immune-cell-activation-and-alters-sciatic-nerve-and-drg-cytokine-levels
#12
Shahani Noor, Joshua J Sanchez, Arden G Vanderwall, Melody S Sun, Jessie R Maxwell, Suzy Davies, Lauren L Jantzie, Timothy R Petersen, Daniel D Savage, Erin D Milligan
A growing body of evidence indicates that prenatal alcohol exposure (PAE) may predispose individuals to secondary medical disabilities later in life. Animal models of PAE reveal neuroimmune sequelae such as elevated brain astrocyte and microglial activation with corresponding region-specific changes in immune signaling molecules such as cytokines and chemokines. The aim of this study was to evaluate the effects of moderate PAE on the development and maintenance of allodynia induced by chronic constriction injury (CCI) of the sciatic nerve in adult male rat offspring...
December 20, 2016: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/28004394/fetal-therapy-for-down-syndrome-an-ethical-exploration
#13
Guido de Wert, Wybo Dondorp, Diana W Bianchi
BACKGROUND: Parallel to recent advances in prenatal screening for Down syndrome (DS), therapies for different aspects of the condition have become available. As intellectual disability is a key aspect, this is an active area for research. Several groups have hypothesized that prenatal interventions will give better chances at improving cognitive functioning in persons with DS than postnatal treatment. Clinical trials are being developed. METHOD: We first discuss the ethical pros and cons of trying to improve cognitive functioning in persons with DS to see if there are categorical objections to the general idea, and then move on to explore ethically relevant aspects of the prospect of developing fetal therapy for DS (FTDS)...
December 22, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27987329/fetal-alcohol-exposure-alters-blood-flow-and-neurological-responses-to-transient-cerebral-ischemia-in-adult-mice
#14
Shameena Bake, Rachel Gardner, Joseph D Tingling, Rajesh C Miranda, Farida Sohrabji
BACKGROUND: Prenatal alcohol exposure (PAE) can result in physical and neurocognitive deficits that are collectively termed "fetal alcohol spectrum disorders" (FASD). Although FASD is associated with lifelong intellectual disability, the mechanisms mediating the emergence of secondary mental health and physical disabilities are poorly understood. Based on our previous data showing that maternal ethanol (EtOH) exposure in mice resulted in an immediate reduction in cranially directed fetal blood flow, we hypothesized that such exposure would also result in persistent alterations in cranially directed blood flow in the prenatally alcohol-exposed (PAE) adult...
January 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/27974238/maternal-administration-of-magnesium-sulfate-promotes-cell-proliferation-in-hippocampus-dentate-gyrus-in-offspring-mice-after-exposing-to-prenatal-stress
#15
Xinli Xiang, Depeng Zhao, Chonglan Gao, Kai Wang, Qian Zhou, Jiuhong Kang, Tao Duan
Prenatal stress (PS) inhibits cell proliferation in the hippocampal dentate gyrus (DG), which is related to hippocampal anatomy and function abnormality. The aim of the study was to investigate the effects of magnesium sulfate (MgSO4) on PS-induced cell proliferation suppression in offspring during embryonic stage and postnatal spatial learning. MgSO4 administration was performed after PS treatment on pregnant mice. Mice were randomly divided into four groups: non-PS or PS maternal mice injected with MgSO4 or saline (P+NS, P+MG, C+MG and C+NS group)...
December 11, 2016: International Journal of Developmental Neuroscience
https://www.readbyqxmd.com/read/27959436/novel-cc2d2a-compound-heterozygous-mutations-cause-joubert-syndrome
#16
Daimin Xiao, Chunli Lv, Zhimin Zhang, Mingsong Wu, Xiang Zheng, Lei Yang, Xueying Li, Guan Wu, Jindong Chen
Joubert syndrome (JS) is an autosomal recessive disorder, which is characterized by hypotonia, ataxia, psychomotor delay, and variable occurrences of oculomotor apraxia and neonatal breathing abnormalities. JS is clinically and genetically heterogeneous. The present study investigated a typical JS family. The 'molar tooth sign' was observed in the proband through magnetic resonance imaging. Other symptoms of JS include cerebellar vermis hypoplasia/dysplasia, oculomotor apraxia and intellectual disability. High‑throughput sequencing revealed that JS was caused by coiled‑coil and C2 domain containing 2A (CC2D2A) compound heterozygous mutations...
January 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27942498/down-syndrome-current-status-challenges-and-future-perspectives
#17
REVIEW
Mohammad Kazemi, Mansoor Salehi, Majid Kheirollahi
Down syndrome (DS) is a birth defect with huge medical and social costs, caused by trisomy of whole or part of chromosome 21. It is the most prevalent genetic disease worldwide and the common genetic cause of intellectual disabilities appearing in about 1 in 400-1500 newborns. Although the syndrome had been described thousands of years before, it was named after John Langdon Down who described its clinical description in 1866. Scientists have identified candidate genes that are involved in the formation of specific DS features...
2016: International Journal of Molecular and Cellular Medicine
https://www.readbyqxmd.com/read/27906067/aspartylglycosaminuria-a-review
#18
REVIEW
Maria Arvio, Ilkka Mononen
Aspartylglucosaminuria (AGU), a recessively inherited lysosomal storage disease, is the most common disorder of glycoprotein degradation with a high prevalence in the Finnish population. It is a lifelong condition affecting on the patient's appearance, cognition, adaptive skills, physical growth, personality, body structure, and health. An infantile growth spurt and development of macrocephalia associated to hernias and respiratory infections are the key signs to an early identification of AGU. Progressive intellectual and physical disability is the main symptom leading to death usually before the age of 50 years...
December 1, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27883195/the-use-of-cardiac-orienting-responses-as-an-early-and-scalable-biomarker-of-alcohol-related-neurodevelopmental-impairment
#19
Diego A Mesa, Julie A Kable, Claire D Coles, Kenneth Lyons Jones, Lyubov Yevtushok, Yaroslav Kulikovsky, Wladimir Wertelecki, Todd P Coleman, Christina D Chambers
BACKGROUND: Considered the leading cause of developmental disabilities worldwide, fetal alcohol spectrum disorders (FASD) are a global health problem. To take advantage of neural plasticity, early identification of affected infants is critical. The cardiac orienting response (COR) has been shown to be sensitive to the effects of prenatal alcohol exposure and is an inexpensive, easy to administer assessment tool. The purpose of this study was to evaluate the COR effectiveness in assessing individual risk of developmental delay...
January 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/27879500/implications-of-preterm-birth-for-maternal-mental-health-and-infant-development
#20
Cheryl Anderson, Priscila Cacola
Preterm birth remains a major contributor to infant mortality and morbidity including neurodevelopmental delay and childhood disability. Mothers experiencing a preterm birth are at risk for maternal mental health issues, inclusive of depression and posttraumatic stress disorder (PTSD), which may affect mother-infant attachment and infant development. Depression and PTSD, frequently comorbid, following preterm birth and relationships between these symptoms, maternal-infant attachment, and infant development are reviewed...
November 22, 2016: MCN. the American Journal of Maternal Child Nursing
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