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Prenatal disability

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https://www.readbyqxmd.com/read/29341890/periodontal-diseases-and-adverse-pregnancy-outcomes-is-there-a-role-for-vitamin-d
#1
REVIEW
Anne Marie Uwitonze, Peace Uwambaye, Moses Isyagi, Chrispinus H Mumena, Alice Hudder, Afrozul Haq, Kamrun Nessa, Mohammed S Razzaque
Studies have shown a relationship between maternal periodontal diseases (PDs) and premature delivery. PDs are commonly encountered oral diseases which cause progressive damage to the periodontal ligament and alveolar bones, leading to loss of teeth and oral disabilities. PDs also adversely affect general health by worsening cardiovascular and metabolic diseases. Moreover, maternal PDs are thought to be related to increasing the frequency of preterm-birth with low birth weight (PBLBW) new-borns. Prematurity and immaturity are the leading causes of prenatal and infant mortality and is a major public health problem around the world...
January 13, 2018: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/29324759/disease-burden-of-methylmercury-in-the-german-birth-cohort-2014
#2
Julia Lackner, Michael Weiss, Christine Müller-Graf, Matthias Greiner
This study aimed to estimate the disease burden of methylmercury for children born in Germany in the year 2014. Humans are mainly exposed to methylmercury when they eat fish or seafood. Prenatal methylmercury exposure is associated with IQ loss. To quantify this disease burden, we used Monte Carlo simulation to estimate the incidence of mild and severe mental retardation in children born to mothers who consume fish based on empirical data. Subsequently, we calculated the disease burden with the disability-adjusted life years (DALY)-method...
2018: PloS One
https://www.readbyqxmd.com/read/29321361/a-novel-contiguous-deletion-involving-ndp-maob-and-efhc2-gene-in-a-patient-with-familial-norrie-disease-bilateral-blindness-and-leucocoria-without-other-deficits
#3
Bei Jia, Liping Huang, Yaoyu Chen, Siping Liu, Cuihua Chen, Ke Xiong, Lanlin Song, Yulai Zhou, Xinping Yang, Mei Zhong
Contiguous microdeletions of the Norrie disease pseudoglioma (NDP) region on chromosome Xp11.3 have been widely confirmed as contributing to the typical clinical features of Norrie disease (ND). However, the precise relation between genotype and phenotype could vary. The contiguous deletion of NDP and its neighbouring genes, MAOA/B and EFHC2, reportedly leads to syndromic clinical features such as microcephaly, intellectual disability, and epilepsy. Herewe report a novel contiguous microdeletion of the NDP region containing the MAOB and EFHC2 genes,which causes eye defects but no cognitive disability...
December 2017: Journal of Genetics
https://www.readbyqxmd.com/read/29298162/prenatal-maternal-serum-concentrations-of-per-and-polyfluoroalkyl-substances-in-association-with-autism-spectrum-disorder-and-intellectual-disability
#4
Kristen Lyall, Vincent M Yau, Robin Hansen, Martin Kharrazi, Cathleen K Yoshida, Antonia M Calafat, Gayle Windham, Lisa A Croen
BACKGROUND: Emerging work has examined neurodevelopmental outcomes following prenatal exposure to per- and polyfluoroalkyl substances (PFAS), but few studies have assessed associations with autism spectrum disorder (ASD). OBJECTIVES: Our objective was to estimate associations of maternal prenatal PFAS concentrations with ASD and intellectual disability (ID) in children. METHODS: Participants were from a population-based nested case-control study of children born from 2000 to 2003 in southern California, including children diagnosed with ASD (n=553), ID without autism (n=189), and general population (GP) controls (n=433)...
January 2, 2018: Environmental Health Perspectives
https://www.readbyqxmd.com/read/29218069/down-syndrome-genetics-and-cardiogenetics
#5
Vasilica Plaiasu
During the last years, Down syndrome has been the focus of special attention. Down syndrome is a genetic disorder characterized by distinct physical features and some degree of cognitive disability. Patients with Down syndrome also present many other congenital anomalies. The mapping for phenotypes to specific regions of chromosome 21 permits to identify which genes (or small regions) contribute to the phenotypic features of Down syndrome and thus, to understand its pathogenesis. Mainly there are three cytogenetic forms of Down syndrome: free trisomy 21, mosaic trisomy 21 and robertsonian translocation trisomy 21...
September 2017: Mædica
https://www.readbyqxmd.com/read/29189693/practice-bulletin-no-187-neural-tube-defects
#6
(no author information available yet)
Neural tube defects (NTDs) are congenital structural abnormalities of the central nervous system and vertebral column. Neural tube defects may occur as an isolated malformation, in combination with other malformations, as part of a genetic syndrome, or as a result of teratogenic exposure (1). Neural tube defects are the second-most-common major congenital anomaly (2) after cardiac malformations, and their prevalence varies by geographic region, race, and environmental factors (3). Outcomes and disabilities depend on level and extent of lesion; for instance, anencephaly is incompatible with life but most infants with spina bifida will survive after surgical repair (4)...
December 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29189691/practice-bulletin-no-187-summary-neural-tube-defects
#7
(no author information available yet)
Neural tube defects (NTDs) are congenital structural abnormalities of the central nervous system and vertebral column. Neural tube defects may occur as an isolated malformation, in combination with other malformations, as part of a genetic syndrome, or as a result of teratogenic exposure (1). Neural tube defects are the second-most-common major congenital anomaly (2) after cardiac malformations, and their prevalence varies by geographic region, race, and environmental factors (3). Outcomes and disabilities depend on level and extent of lesion; for instance, anencephaly is incompatible with life but most infants with spina bifida will survive after surgical repair (4)...
December 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29171894/the-future-of-reproductive-autonomy
#8
Josephine Johnston, Rachel L Zacharias
In a project The Hastings Center is now running on the future of prenatal testing, we are encountering clear examples, both in established law and in the practices of individual providers, of failures to respect women's reproductive autonomy: when testing is not offered to certain demographics of women, for instance, or when the choices of women to terminate or continue pregnancies are prohibited or otherwise not supported. But this project also raises puzzles for reproductive autonomy. We have learned that some clinicians and patients do not discuss the fact that prenatal testing can lead to a decision about whether to terminate a pregnancy-they just don't talk about it...
December 2017: Hastings Center Report
https://www.readbyqxmd.com/read/29169104/reconciling-ethical-and-economic-conceptions-of-value-in-health-policy-using-the-capabilities-approach-a-qualitative-investigation-of-non-invasive-prenatal-testing
#9
Mia Kibel, Meredith Vanstone
When evaluating new morally complex health technologies, policy decision-makers consider a broad range of different evaluations, which may include the technology's clinical effectiveness, cost effectiveness, and social or ethical implications. This type of holistic assessment is challenging, because each of these evaluations may be grounded in different and potentially contradictory assumptions about the technology's value. One such technology where evaluations conflict is Non-Invasive Prenatal Testing (NIPT)...
November 16, 2017: Social Science & Medicine
https://www.readbyqxmd.com/read/29168871/probing-impaired-neurogenesis-in-human-brain-organoids-exposed-to-alcohol
#10
Yujuan Zhu, Li Wang, Fangchao Yin, Yue Yu, Yaqing Wang, Matthew J Shepard, Zhengping Zhuang, Jianhua Qin
The fetal brain is highly vulnerable to ethanol exposure, which can trigger various long-term neuronal disabilities and cognitive dysfunctions. However, a comprehensive understanding of fetal brain development under ethanol exposure is challenging due to the limitations of animal models. Here, we propose a human induced pluripotent stem cell (hiPSC)-based 3D brain organoid model, and explore the mechanisms underlying neural dysfunctions in prenatal alcohol exposure (PAE) in vitro. Brain organoids were examined to resemble brain organogenesis in vivo at early stages during gestation, with specific features of neuronal differentiation, brain regionalization, and cortical organization...
November 23, 2017: Integrative Biology: Quantitative Biosciences From Nano to Macro
https://www.readbyqxmd.com/read/29164086/a-novel-missense-mutation-of-the-nsd1-gene-associated-with-overgrowth-in-three-generations-of-an-italian-family-case-report-differential-diagnosis-and-review-of-mutations-of-nsd1-gene-in-familial-sotos-syndrome
#11
Gianluigi Laccetta, Francesca Moscuzza, Angela Michelucci, Andrea Guzzetta, Sara Lunardi, Francesca Lorenzoni, Paolo Ghirri
Sotos syndrome (SoS) is characterized by overgrowth of prenatal onset, learning disability, and characteristic facial appearance; it is usually due to haploinsufficiency of NSD1 gene at chromosome 5q35. An Italian child was born at 37 weeks of gestation (weight 2,910 g, 25th-50th centiles; length 50 cm, 75th centile; head circumference 36 cm, 97th centile) showing cryptorchidism on the right side, hypertelorism, dolichocephaly, broad and prominent forehead, and narrow jaw; the pregnancy was worsened by maternal preeclampsia and gestational diabetes, and his mother had a previous history of four early miscarriages...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29162951/down-syndrome-screening-in-india-are-we-there-yet
#12
REVIEW
K Manikandan, Suresh Seshadri
Down syndrome is the most common cause of intellectual disability among live born children and is amenable to prenatal detection. Screening for Down syndrome on a population basis requires a thorough understanding of the principles involved in the screening tests. We discuss the rationale behind the commonly available screening tests and the Indian scenario in this setting.
December 2017: Journal of Obstetrics and Gynaecology of India
https://www.readbyqxmd.com/read/29160022/first-prenatal-diagnosis-of-a-pure-9q34-3-deletion-kleefstra-syndrome-a-case-report-and-literature-review
#13
Sarah Guterman, Bérénice Hervé, Julie Rivière, Delphine Fauvert, Patrice Clement, François Vialard
Kleefstra syndrome (KS) is characterized by developmental delay, intellectual disability, hypotonia and distinct facial features. Additional clinical features include congenital heart defects, cerebral abnormalities, urogenital defects and weight gain. The syndrome is caused by a microdeletion in chromosomal region 9q34.3 (in 85% of cases) or by a mutation in the EHMT1 gene coding for euchromatin histone methyltransferase 1. The prenatal phenotype has not yet been characterized. Herein, we sought to define this phenotype on the basis of a new case report and literature review...
November 21, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/29122228/-depressive-symptoms-and-psychosocial-risk-factors-in-high-complexity-obstetric-patients-admitted-to-a-critical-care-obstetric-unit-in-cali-colombia
#14
Ana María Guerra, Diana María Dávalos Pérez, Alejandro Castillo Martínez
Depression is the main cause of years lossed due to disability in the world, and it affects 50% more women 50% than men. Perinatal depression has been linked with more anxiety, a chronic course, and disability than depression in other life stages. In spite of its high prevalence and serious health effects on both mother and foetus, it is frequently under-diagnosed. This study was performed on all high risk obstetric patients admitted to a critical care obstetric unit in Cali, Colombia, from January to June, 2014...
October 2017: Revista Colombiana de Psiquiatría
https://www.readbyqxmd.com/read/29120314/ethical-challenges-in-fasd-prevention-scientific-uncertainty-stigma-and-respect-for-women-s-autonomy
#15
Natalie Zizzo, Eric Racine
Fetal alcohol spectrum disorder (FASD) is a leading form of neurodevelopmental delay in Canada, affecting an estimated 3000 babies per year. FASD involves a range of disabilities that entail significant costs to affected individuals, families, and society. Exposure to alcohol in utero is a necessary factor for FASD development, and this has led to FASD being described as "completely preventable". However, there are significant ethical challenges associated with FASD prevention. These challenges revolve around 1) what should be communicated about the risks of alcohol consumption during pregnancy, given some ongoing scientific uncertainty about the effects of prenatal alcohol exposure, and 2) how to communicate these risks, given the potential for stigma against women who give birth to children with FASD as well as against children and adults with FASD...
November 9, 2017: Canadian Journal of Public Health. Revue Canadienne de Santé Publique
https://www.readbyqxmd.com/read/29113753/best-practices-for-online-canadian-prenatal-health-promotion-a-public-health-approach
#16
Rebecca A Chedid, Rowan M Terrell, Karen P Phillips
BACKGROUND: Prenatal health promotion provides information regarding pregnancy risks, protective behaviours and clinical and community resources. Typically, women obtain prenatal health information from health care providers, prenatal classes, peers/family, media and increasingly, Internet sites and mobile apps. Barriers to prenatal health promotion and related services include language, rural/remote location, citizenship and disability. Online public health platforms represent the capacity to reach underserved women and can be customised to address the needs of a heterogeneous population of pregnant women...
November 4, 2017: Women and Birth: Journal of the Australian College of Midwives
https://www.readbyqxmd.com/read/29094891/fetal-alcohol-syndrome-and-fetal-alcohol-spectrum-disorders
#17
LeeAnne Denny, Sarah Coles, Robin Blitz
Fetal alcohol syndrome (FAS) and fetal alcohol spectrum disorders (FASD) result from intrauterine exposure to alcohol and are the most common nonheritable causes of intellectual disability. The percentage of women who drink or binge drink during pregnancy has increased since 2012. FAS is commonly missed or misdiagnosed, preventing affected children from receiving needed services in a timely fashion. Diagnosis is based on the presence of the following clinical features, all of which must be present: prenatal and/or postnatal growth retardation, facial dysmorphology, central nervous system dysfunction, and neurobehavioral disabilities...
October 15, 2017: American Family Physician
https://www.readbyqxmd.com/read/29091783/neurodevelopmental-outcome-in-prenatally-diagnosed-isolated-agenesis-of-the-corpus-callosum
#18
Lise Folliot-Le Doussal, Alexandra Chadie, Marie Brasseur-Daudruy, Eric Verspyck, Pascale Saugier-Veber, Stéphane Marret
Neurodevelopmental outcome in children with agenesis of the corpus callosum (ACC) is correlated with the presence or absence of associated brain abnormalities. Indeed, neurodevelopmental outcome shows severe disabilities when the ACC is not isolated whereas in isolated forms, the neurologic development is mainly normal. Contrary to data in several published studies, the prognosis remains uncertain even in isolated forms, which may lead in France to medical termination of pregnancy. OBJECTIVE: To evaluate long-term neurodevelopmental outcome in children with prenatally diagnosed isolated ACC...
October 29, 2017: Early Human Development
https://www.readbyqxmd.com/read/29082010/prenatal-and-perinatal-risk-factors-for-disability-in-a-rural-nepali-birth-cohort
#19
Edward J N Haworth, Kirti M Tumbahangphe, Anthony Costello, Dharma Manandhar, Dhruba Adhikari, Bharat Budhathoki, Dej Krishna Shrestha, Khadka Sagar, Michelle Heys
BACKGROUND: Improving newborn health remains a global health priority. Little however is known about the neurodevelopmental consequences for survivors of complications in pregnancy, labour and the neonatal period in in low-income countries outside of small selective and typically urban facility studies. We ask which antenatal, birth and neonatal factors are associated with disability in childhood in a large community birth cohort from rural Nepal. METHODS: 6436 infants were recruited during a cluster randomised control trial (RCT) of participatory women's groups (ISRCTN31137309), of whom 6075 survived beyond 28 days...
2017: BMJ Global Health
https://www.readbyqxmd.com/read/29048264/counseling-parents-at-risk-of-delivery-of-an-extremely-premature-infant-differing-strategies
#20
Marlyse F Haward, Annie Janvier, John M Lorenz, Baruch Fischhoff
BACKGROUND: It is not known how neonatologists address the affective and cognitive loads on parents deciding whether to resuscitate infants born extremely preterm. This study explores expert neonatologists' views on these decision-making processes and their own roles in counseling parents. METHODS: Semi-structured interviews asked internationally recognized experts to share their perspectives on perinatal consultations. Their responses were subjected to thematic analysis...
October 19, 2017: AJOB Empirical Bioethics
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