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https://www.readbyqxmd.com/read/27906067/aspartylglycosaminuria-a-review
#1
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
#2
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...
November 24, 2016: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/27879500/implications-of-preterm-birth-for-maternal-mental-health-and-infant-development
#3
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
#4
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
#5
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, Tai Yeung Leung, Kwong Wai Choy
OBJECTIVES: The phenotype for 10q22q23 duplication is diverse, ranging from intellectual disability, 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...
November 8, 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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/27793311/women-should-decide-which-conditions-matter
#12
EDITORIAL
Mary E Norton, Miriam Kuppermann
Providing reliable prenatal screening performance estimates is critical for patient counseling and policy-making. Women who choose prenatal screening for aneuploidy are likely to be concerned not only with the common aneuploidies but with all causes of intellectual disability and serious birth defects. Sequential prenatal screening (combined serum and ultrasound testing) for aneuploidy detection commonly is offered as a primary screening test. Among women identified as screen positive, cell-free (cf)DNA has been added recently as a secondary, noninvasive screening option, before the consideration of invasive diagnostic testing (eg, amniocentesis and karyotype)...
November 2016: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27793310/where-have-all-the-trisomies-gone
#13
EDITORIAL
Glenn E Palomaki, Geralyn M Lambert-Messerlian, James E Haddow
Providing reliable prenatal screening performance estimates is critical for patient counseling and policy-making. Women who choose prenatal screening for aneuploidy are likely to be concerned not only with the common aneuploidies but with all causes of intellectual disability and serious birth defects. Sequential prenatal screening (combined serum and ultrasound testing) for aneuploidy detection commonly is offered as a primary screening test. Among women identified as screen positive, cell-free (cf)DNA has been added recently as a secondary, noninvasive screening option, before the consideration of invasive diagnostic testing (eg, amniocentesis and karyotype)...
November 2016: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27751425/molecular-cytogenetic-characterization-of-an-inv-dup-15-chromosome-presenting-as-a-small-supernumerary-marker-chromosome-associated-with-the-inv-dup-15-syndrome
#14
Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Chi Lee, Dai-Dyi Town, Chien-Wen Yang, Wayseen Wang
OBJECTIVE: To present molecular cytogenetic characterization of an inverted duplication of proximal chromosome 15 [inv dup(15)] presenting as a small supernumerary marker chromosome (sSMC) associated with the inv dup(15) syndrome. CASE REPORT: A 35-year-old woman underwent amniocentesis because of advanced maternal age at 27 weeks of gestation, which revealed an sSMC that was confirmed by fluorescence in situ hybridization (FISH) to be derived from chromosome 15...
October 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27725421/impact-of-maternal-stress-in-pregnancy-on-brain-function-of-the-offspring
#15
Jun Udagawa, Kodai Hino
Epidemiological studies suggest that exposure to prenatal stressors, including malnutrition, maternal immune activation (MIA), and adverse life events, is associated with increased risks of schizophrenia, autism spectrum disorder (ASD), and attention-deficit hyperactivity disorder (ADHD). However, the underlying pathophysiological mechanisms are unclear. The first trimester of pregnancy is particularly a vulnerable period. During this period, the self-renewal of neural stem cells and neurogenesis vigorously occur, and synaptic connections are partially formed in the telencephalon...
2016: Nihon Eiseigaku Zasshi. Japanese Journal of Hygiene
https://www.readbyqxmd.com/read/27718271/neuropsychiatric-aspects-of-22q11-2-deletion-syndrome-considerations-in-the-prenatal-setting
#16
Anne S Bassett, Gregory Costain, Christian R Marshall
Most major neuropsychiatric outcomes of concern to families are not detectable by prenatal ultrasound. The introduction of genome-wide chromosomal microarray analysis to prenatal clinical diagnostic testing has increased the detection of pathogenic 22q11.2 deletions, which cause the most common genomic disorder. The recent addition of this and other microdeletions to non-invasive prenatal screening methods using cell-free fetal DNA has further propelled interest in outcomes. Conditions associated with 22q11...
October 8, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27717039/effects-of-ethanol-on-cellular-composition-and-network-excitability-of-human-pluripotent-stem-cell-derived-neurons
#17
Zoe H Larsen, Praveen Chander, Jason A Joyner, Crina M Floruta, Tess L Demeter, Jason P Weick
BACKGROUND: Prenatal alcohol exposure (PAE) in animal models results in excitatory-inhibitory (E/I) imbalance in neocortex due to alterations in the GABAergic interneuron (IN) differentiation and migration. Thus, E/I imbalance is a potential cause for intellectual disability in individuals with fetal alcohol spectrum disorder (FASD), but whether ethanol (EtOH) changes glutamatergic and GABAergic IN specification during human development remains unknown. Here, we created a human cellular model of PAE/FASD and tested the hypothesis that EtOH exposure during differentiation of human pluripotent stem cell-derived neurons (hPSNs) would cause the aberrant production of glutamatergic and GABAergic neurons, resulting in E/I imbalance...
September 26, 2016: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/27714920/familial-gordon-syndrome-associated-with-a-piezo2-mutation
#18
Franz Alisch, Alexander Weichert, Karim Kalache, Viola Paradiso, Ann Carolin Longardt, Christof Dame, Katrin Hoffmann, Denise Horn
Gordon syndrome or distal arthrogryposis type 3 is a rare autosomal dominant disorder characterized by contractures of upper and lower limbs. It is distinguishable from other forms of distal arthrogryposis by cleft palate and short stature. Recently, Gordon syndrome has been associated to heterozygous mutations in the piezo-type mechanosensitive ion channel component 2 gene (PIEZO2). Different mutations of this gene also cause distal arthrogryposis type 5 and Marden-Walker syndrome. Dysfunction of this ion channel provides pleiotropic effects on joints, ocular muscles, and bone development...
October 7, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27714697/prenatal-systemic-hypoxia-ischemia-and-oligodendroglia-loss-in-cerebellum
#19
Penha Cristina Barradas, Tiago Savignon, Alex C Manhães, Frank Tenório, Alan P da Costa, Marta C Cunha-Rodrigues, Juliana Vaillant
Hypoxic-ischemic (HI) injury is an important cause of death and disabilities. Despite all improvements in neonatal care, the number of children who suffer some kind of injury during birth has remained stable in the last decade. A great number of studies have shown alterations in neural cells and many animal models have been proposed in the last 5 decades. Robinson et al. (2005) proposed an HI model in which the uterine arteries are temporarily clamped on the 18th gestation day. The findings were quite similar to the ones observed in postmortem studies...
2016: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27705751/before-and-after-nutritional-transformation-of-dysmorphism-in-a-case-of-costello-syndrome
#20
Annie T G Chiu, Lixing Zhu, Gary T K Mok, Gordon K C Leung, C B Chow, Brian H Y Chung
Costello syndrome is a type of RASopathy mapped to HRAS gene in chromosome 11, characterized by prenatal overgrowth, postnatal failure to thrive, classic facial gestalt and multisystem involvement including cardiomyopathy and intellectual disability. We present a 7 months old child with severe failure to thrive whose "subtle" facial dysmorphism at the time eluded clinical recognition of the syndrome. It was only with optimization of his nutritional status that dysmorphic features became more apparent, which affirmed the molecular diagnosis of Costello syndrome from exome sequencing...
October 2, 2016: European Journal of Medical Genetics
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