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https://www.readbyqxmd.com/read/28068486/the-changing-epidemiology-of-autism-spectrum-disorders
#1
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
#2
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...
October 26, 2016: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/28025631/amniotic-band-syndrome-perinatal-hospice-and-palliative-care-versus-active-management
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/27878910/mothering-with-an-intellectual-disability-a-phenomenological-exploration-of-making-infant-feeding-decisions
#13
Amanda Guay, Marjorie Aunos, Delphine Collin-Vézina
BACKGROUND: Mothers with intellectual disability are less likely than mothers without intellectual disability to breastfeed their infants, but there is little literature that addresses infant-feeding decisions among this population. This study explores experiences of mothers with intellectual disability in making and carrying out infant-feeding decisions. METHODS: Using a phenomenological approach, in-depth interviews were conducted with four mothers with intellectual disability...
November 23, 2016: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/27859473/prenatal-detection-of-10q22q23-duplications-dilemmas-in-phenotype-prediction
#14
Grace Wing Shan Kong, Ye Cao, Jin Huang, Kwun Yue Cheng, Amber Nolen Pursley, Jill Anne Rosenfeld, Janice G Edwards, Yiu Man Chan, Sau Wai Cheung, Tak Yeung Leung, Kwong Wai Choy
OBJECTIVES: The phenotype for 10q22q23 duplication is diverse, ranging from intellectual disability and dysmorphism to normal development. Interpreting the clinical significance of the duplication identified in this region is difficult, especially in the prenatal setting. This study aimed to characterize the prenatal findings associated with this submicroscopic imbalance and discuss the dilemmas in predicting the phenotype of 10q22q23 duplications. METHODS: This is a retrospective study of three cases of 10q22q23 duplications diagnosed prenatally by chromosomal microarray analysis...
December 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27834868/steric-clash-in-the-set-domain-of-histone-methyltransferase-nsd1-as-a-cause-of-sotos-syndrome-and-its-genetic-heterogeneity-in-a-brazilian-cohort
#15
Kyungsoo Ha, Priya Anand, Jennifer A Lee, Julie R Jones, Chong Ae Kim, Debora Romeo Bertola, Jonathan D J Labonne, Lawrence C Layman, Wolfgang Wenzel, Hyung-Goo Kim
Most histone methyltransferases (HMTase) harbor a predicted Su(var)3-9, Enhancer-of-zeste, Trithorax (SET) domain, which transfers a methyl group to a lysine residue in their substrates. Mutations of the SET domains were reported to cause intellectual disability syndromes such as Sotos, Weaver, or Kabuki syndromes. Sotos syndrome is an overgrowth syndrome with intellectual disability caused by haploinsufficiency of the nuclear receptor binding SET domain protein 1 (NSD1) gene, an HMTase at 5q35.2-35.3. Here, we analyzed NSD1 in 34 Brazilian Sotos patients and identified three novel and eight known mutations...
November 9, 2016: Genes
https://www.readbyqxmd.com/read/27828986/plasma-mirna-profiles-in-pregnant-women-predict-infant-outcomes-following-prenatal-alcohol-exposure
#16
Sridevi Balaraman, Jordan J Schafer, Alexander M Tseng, Wladimir Wertelecki, Lyubov Yevtushok, Natalya Zymak-Zakutnya, Christina D Chambers, Rajesh C Miranda
Fetal alcohol spectrum disorders (FASD) are difficult to diagnose since many heavily exposed infants, at risk for intellectual disability, do not exhibit craniofacial dysmorphology or growth deficits. Consequently, there is a need for biomarkers that predict disability. In both animal models and human studies, alcohol exposure during pregnancy resulted in significant alterations in circulating microRNAs (miRNAs) in maternal blood. In the current study, we asked if changes in plasma miRNAs in alcohol-exposed pregnant mothers, either alone or in conjunction with other clinical variables, could predict infant outcomes...
2016: PloS One
https://www.readbyqxmd.com/read/27819320/descriptive-epidemiology-of-prenatal-and-perinatal-risk-factors-in-a-chinese-population-with-reading-disorder
#17
Lingfei Liu, Jia Wang, Shanshan Shao, Xiu Luo, Rui Kong, Xiaohui Zhang, Ranran Song
Several prenatal and perinatal factors have been found to be associated with developmental dyslexia (reading disorder) in alphabetic language. Given the absence of relevant studies of Chinese children, the present study tries to investigate these risk factors. A total of 45,850 students were recruited from grades three to six, from seven cities of Hubei province. Dyslexia in Chinese was diagnosed based on children's clinical symptoms. The clinical symptoms of children's reading performance were assessed by Dyslexia Checklist for Chinese Children (DCCC) and Pupil Rating Scale Revised Screening for Learning Disabilities (PRS) which were completed by parent/guardian and header teacher respectively...
November 7, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27812690/characterizing-the-pattern-of-anomalies-in-congenital-zika-syndrome-for-pediatric-clinicians
#18
Cynthia A Moore, J Erin Staples, William B Dobyns, André Pessoa, Camila V Ventura, Eduardo Borges da Fonseca, Erlane Marques Ribeiro, Liana O Ventura, Norberto Nogueira Neto, J Fernando Arena, Sonja A Rasmussen
Importance: Zika virus infection can be prenatally passed from a pregnant woman to her fetus. There is sufficient evidence to conclude that intrauterine Zika virus infection is a cause of microcephaly and serious brain anomalies, but the full spectrum of anomalies has not been delineated. To inform pediatric clinicians who may be called on to evaluate and treat affected infants and children, we review the most recent evidence to better characterize congenital Zika syndrome. Observations: We reviewed published reports of congenital anomalies occurring in fetuses or infants with presumed or laboratory-confirmed intrauterine Zika virus infection...
November 3, 2016: JAMA Pediatrics
https://www.readbyqxmd.com/read/27802557/pregnancy-research-on-osteopathic-manipulation-optimizing-treatment-effects-the-promote-study-protocol
#19
Kendi L Hensel, Michael S Carnes, Scott T Stoll
The structural and physiologic changes in a woman's body during pregnancy can predispose pregnant women to low back pain and its associated disability, as well as to complications of pregnancy, labor, and delivery. Anecdotal and empirical evidence has indicated that osteopathic manipulative treatment (OMT) may be efficacious in improving pain and functionality in women who are pregnant. Based on that premise, the Pregnancy Research on Osteopathic Manipulation Optimizing Treatment Effects (PROMOTE) study was designed as a prospective, randomized, placebo-controlled, and blinded clinical trial to evaluate the efficacy of an OMT protocol for pain during third-trimester pregnancy...
November 1, 2016: Journal of the American Osteopathic Association
https://www.readbyqxmd.com/read/27798989/maternal-environmental-risk-factors-for-congenital-hydrocephalus-a-systematic-review
#20
Aristotelis V Kalyvas, Theodosis Kalamatianos, Mantha Pantazi, Georgios D Lianos, George Stranjalis, George A Alexiou
OBJECTIVE Congenital hydrocephalus (CH) is one of the most frequent CNS congenital malformations, representing an entity with serious pathological consequences. Although several studies have previously assessed child-related risk factors associated with CH development, there is a gap of knowledge on maternal environmental risk factors related to CH. The authors have systematically assessed extrinsic factors in the maternal environment that potentially confer an increased risk of CH development. METHODS The Cochrane Library, MEDLINE, and EMBASE were systematically searched for works published between 1966 and December 2015 to identify all relevant articles published in English...
November 2016: Neurosurgical Focus
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