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Prenatal genetic

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https://www.readbyqxmd.com/read/28938413/prenatal-diagnosis-of-resistance-to-thyroid-hormone-and-its-clinical-implications
#1
Theodora Pappa, João Anselmo, Sunnee Mamanasiri, Alexandra M Dumitrescu, Roy E Weiss, Samuel Refetoff
Context: Resistance to thyroid hormone beta (RTHβ) is an autosomal dominant disorder characterized by reduced sensitivity of target tissues to thyroid hormones (TH). Individuals with RTHβ have high TH levels usually due to mutations in the TH receptor beta (THRB) gene. The management of RTHβ during pregnancy is challenging as wild-type (WT) fetuses born to RTHβ mothers have low birth weight and suppressed postnatal TSH, due to intrauterine exposure to excess TH. Objective: To determine birth weight and postnatal TSH of WT fetuses carried by mothers with RTHβ whose fT4 levels were maintained below 20% the upper limit of normal (ULN)...
August 4, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28936432/severity-of-premenstrual-symptoms-predicted-by-second-to-fourth-digit-ratio
#2
Yoshiki Kaneoke, Tomohiro Donishi, Akihiko Iwahara, Toshio Shimokawa
Women of reproductive age often experience a variety of unpleasant symptoms prior to the onset of menstruation. While genetics may influence the variability of these symptoms and their severity among women, the exact causes remain unknown. We hypothesized that symptom variability originates from differences in the embryonic environment and thus development caused by variation in exposure to sex hormones. We measured the second to fourth digit ratios (2D:4D) in 402 young women and investigated the potential relationships of this ratio premenstrual symptoms using a generalized linear model...
2017: Frontiers in Medicine
https://www.readbyqxmd.com/read/28934093/combined-prenatal-pesticide-exposure-and-folic-acid-intake-in-relation-to-autism-spectrum-disorder
#3
Rebecca J Schmidt, Vladimir Kogan, Janie F Shelton, Lora Delwiche, Robin L Hansen, Sally Ozonoff, Claudia C Ma, Erin C McCanlies, Deborah H Bennett, Irva Hertz-Picciotto, Daniel J Tancredi, Heather E Volk
BACKGROUND: Maternal folic acid (FA) protects against developmental toxicity from certain environmental chemicals. OBJECTIVE: We examined combined exposures to maternal FA and pesticides in relation to autism spectrum disorder (ASD). METHODS: Participants were California children born from 2000-2007 who were enrolled in the Childhood Autism Risks from Genetics and the Environment (CHARGE) case-control study at age 2-5 y, were clinically confirmed to have ASD (n=296) or typical development (n=220), and had information on maternal supplemental FA and pesticide exposures...
September 8, 2017: Environmental Health Perspectives
https://www.readbyqxmd.com/read/28931341/the-neurotoxic-effects-of-prenatal-gabapentin-and-oxcarbazepine-exposure-on-newborn-rats
#4
Zuleyha Erisgin, Bulent Ayas, Jens R Nyengaard, N Ercument Beyhun, Yuksel Terzi
Teratogenicity is a problematic issue for pregnant women because of x-ray radiation, drugs, genetic and unknown variables. First generation antiepileptic drugs (AED) like valproic acid are well-known teratogens for developing foetuses. However, their usage is necessary in order to prevent maternal seizures. The underlying mechanism of birth defects associated with AED exposure remains unclear and information about the neurotoxic effects of prenatal exposure to AED is still limited. Oxcarbazepine (OXC) and gabapentin (GBP) are second generation antiepileptic drugs...
September 20, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28930553/fetal-nucleic-acids-in-maternal-plasma-from-biology-to-clinical-translation
#5
Neha Bunkar, Arpit Bhargava, Koel Chaudhury, Radhey Shyam Sharma, Nirmal Kumar Lohiya, Pradyumna Kumar Mishra
Exposure to environmental contaminants during the critical window of pregnancy results in deregulation of highly coordinated genetic and epigenetic mechanisms involved in prenatal growth. Such disturbances significantly alter the fetal programming, and lead to various developmental disorders immediately, over the lifetime, or transgenerationally. During the process of placental development, fetal nucleic acids enter maternal plasma as a result of necrotic, apoptotic, and inflammatory mechanisms. These nucleic acids reflect normal or abnormal ongoing cellular changes during prenatal fetal development...
January 1, 2018: Frontiers in Bioscience (Landmark Edition)
https://www.readbyqxmd.com/read/28930067/prenatal-exposure-effects-on-early-adolescent-substance-use-preliminary-evidence-from-a-genetically-informed-bayesian-approach
#6
L Cinnamon Bidwell, Kristine Marceau, Leslie A Brick, Hollis C Karoly, Alexandre A Todorov, Rohan H Palmer, Andrew C Heath, Valerie S Knopik
OBJECTIVE: Given the controversy surrounding the question of whether there are direct or causal effects of exposure to maternal smoking during pregnancy (SDP) on offspring outcomes such as substance use during the adolescent years, we sought to test, on a preliminary basis, within- and between-family associations of SDP and initiation of substance use early in adolescence (by age 15 years) using a discordant sibling design. METHOD: We used a sibling-comparison approach in a sample of 173 families drawn from the state of Missouri, wherein mothers were discordant for smoking behaviors between two different pregnancies, to test for associations of SDP and initiation of substance use in a younger adolescent cohort...
September 2017: Journal of Studies on Alcohol and Drugs
https://www.readbyqxmd.com/read/28929496/a-methylome-wide-association-study-of-trajectories-of-oppositional-defiant-behaviors-and-biological-overlap-with-attention-deficit-hyperactivity-disorder
#7
Edward D Barker, Esther Walton, Charlotte A M Cecil, Richard Rowe, Sara R Jaffee, Barbara Maughan, Thomas G O'Connor, Argyris Stringaris, Alan J Meehan, Wendy McArdle, Caroline L Relton, Tom R Gaunt
In 671 mother-child (49% male) pairs from an epidemiological birth cohort, we investigated (a) prospective associations between DNA methylation (at birth) and trajectories (ages 7-13) of oppositional defiant disorder (ODD), and the ODD subdimensions of irritable and headstrong; (b) common biological pathways, indexed by DNA methylation, between ODD trajectories and attention deficit hyperactivity disorder (ADHD); (c) genetic influence on DNA methylation; and (d) prenatal risk exposure associations. Methylome-wide significant associations were identified for the ODD and headstrong, but not for irritable...
September 20, 2017: Child Development
https://www.readbyqxmd.com/read/28924289/knowledge-attitude-and-practices-kap-of-the-families-of-b-thalassaemia-children-in-thalassaemia-centers-of-rawalpindi-and-islamabad-pakistan
#8
Aamir Shahzad, Nazia Rafiq, Ikram Ullah, Muhammad Javaid Asad, Muhammad Sheeraz Ahmad, Usman Waheed
The present study was designed to assess the Knowledge, Attitude and Practices (KAP) of the parents of b-thalassaemia children (410) selected from public (73.2%) and private (26.8%) thalassaemia centers of Rawalpindi-Islamabad. Qualitative and quantitative approaches were used to collect the data, which was analyzed by using SPSS. Majority of the respondents (70%) were rural young parents with no knowledge of thalassaemia before marriage. However, now 81.2% were aware about this. Majority of the respondents (89%) had the knowledge about premarital screening, 86...
September 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28921105/association-between-air-pollution-exposure-cognitive-and-adaptive-function-and-asd-severity-among-children-with-autism-spectrum-disorder
#9
Tara Kerin, Heather Volk, Weiyan Li, Fred Lurmann, Sandrah Eckel, Rob McConnell, Irva Hertz-Picciotto
Prenatal exposure to air pollution has been associated with autism spectrum disorder (ASD) risk but no study has examined associations with ASD severity or functioning. Cognitive ability, adaptive functioning, and ASD severity were assessed in 327 children with ASD from the Childhood Autism Risks from Genetics and the Environment study using the Mullen Scales of Early Learning (MSEL), the Vineland Adaptive Behavior Scales (VABS), and the Autism Diagnostic Observation Schedule calibrated severity score. Estimates of nitrogen dioxide (NO2), particulate matter (PM2...
September 18, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28912110/the-genetics-of-congenitally-small-brains
#10
REVIEW
Sarah Duerinckx, Marc Abramowicz
Primary microcephaly (PM) refers to a congenitally small brain, resulting from insufficient prenatal production of neurons, and serves as a model disease for brain volumic development. Known PM genes delineate several cellular pathways, among which the centriole duplication pathway, which provide interesting clues about the cellular mechanisms involved. The general interest of the genetic dissection of PM is illustrated by the convergence of Zika virus infection and PM gene mutations on congenital microcephaly, with CENPJ/CPAP emerging as a key target...
September 11, 2017: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/28905883/acceptable-applications-of-preimplantation-genetic-diagnosis-pgd-among-israeli-pgd-users
#11
Shachar Zuckerman, David A Zeevi, Sigal Gooldin, Gheona Altarescu
The use of PGD technology to select against genetic disorders and traits is increasing. Although PGD may eliminate some of the obstacles related to conservative options of prenatal diagnosis, it can raise personal, social and moral questions. Ethical issues concerning the justified uses of PGD are a subject of ongoing debate among medical and bioethical communities. Although attitudes toward the acceptable uses of PGD were evaluated among population groups worldwide, bioethics councils were criticized for ignoring public perspectives...
October 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28903905/the-pathogenicity-of-genomic-genetic-variant-of-x-chromosomal-genes-in-males-with-intellectual-disability
#12
Ji-Ping Peng, Fang Liu, Hua Xie, Xiao-Li Chen
Intellectual Disability (ID, previously named mental retardation) is a group of common pediatric neurology disorders characterized by extensive genetic and phenotypic heterogeneity. About 25%-50% of ID was caused by genomic/genetic variants, in which genomic/genetic variants of X-chromosome are one of key pathogenic causation (25%-30%), resulting in X-linked ID (XLID). The epidemiological data showed that the male to female ratio is 1.3: 1 in ID patients. The prevalence of XLID in the whole ID population is 10%-15%, and this prevalence reaches 20%-25% in the male ID population...
June 20, 2017: Yi Chuan, Hereditas
https://www.readbyqxmd.com/read/28903583/prenatal-genetic-diagnosis-of-neu-laxova-syndrome
#13
Amber M Wood, Amy T Mottola, Eleanor H Rhee, Jeffrey A Kuller
No abstract text is available yet for this article.
September 14, 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28901406/fgfr2-mutations-and-associated-clinical-observations-in-two-chinese-patients-with-crouzon-syndrome
#14
Ying Lin, Hongbin Gao, Siming Ai, Jacob V P Eswarakumar, Yi Zhu, Chuan Chen, Tao Li, Bingqian Liu, Hongye Jiang, Yuhua Liu, Yonghao Li, Qingxiu Wu, Haichun Li, Xiaoling Liang, Chenjin Jin, Xinhua Huang, Lin Lu
The aim of the present study was to identify mutations in the fibroblast growth factor receptor 2 (FGFR2) gene in patients with Crouzon syndrome and characterize the associated clinical features. A total of two Chinese patients diagnosed with Crouzon syndrome underwent complete examinations, including best‑corrected visual acuity, slit‑lamp, examination, fundus examination, optical coherence tomography and computed tomography of the skull. Genomic DNA was extracted from peripheral blood samples collected from the patients, as well as their family members and 200 unrelated control subjects from the same population...
August 29, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28901398/application-of-next%C3%A2-generation-sequencing-for-molecular-diagnosis-in-a-large-family-with-osteogenesis-imperfecta-type-i
#15
Mengxia Ni, Hao Ding, Shuaimei Liu, Peiran Zhu, Qiuyue Wu, Weiwei Li, Jing Zhang, Weijun Jiang, Xinyi Xia
Increased bone fragility and low bone mass are common features of osteogenesis imperfecta (OI), which is associated with connective tissue. Its type is distinguished by clinical phenotypes and molecular genetics. Although fifteen types (I‑XV) of OI have been identified at present, the majority of patients are diagnosed as OI type I‑IV. Type I collagen is responsible for OI type I‑IV, consists of α1 (I) and α2 (I) chains and is encoded by COL1A1 and COL1A2. To identify the pathogenic gene of a large Chinese family with OI type I and explain genetic heterogeneity of the patients, next‑generation sequencing (NGS) was conducted in a female with OI type I and her affected niece and daughter to search for the mutation...
September 7, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28900865/genetic-counseling-in-primary-immunodeficiency-disorders-an-emerging-experience-in-egypt
#16
Rabab E El Hawary, Safa S Meshaal, Dalia S Abd Elaziz, Marwa A Elsharkawy, Radwa S Alkady, Sohilla Lotfy, Ahmad El-Sheikhah, Amr Hassan, Nermeen M Galal, Jeannette A Boutros, Aisha M Elmarsafy
BACKGROUND: Primary immunodeficiency disorders (PIDs) are a heterogeneous group of diseases of the immune system leading to life-threatening infections, and, unless urgently treated with immune reconstitution, patients do not usually survive. With the continuing progress in molecular diagnosis, many mutations have been described in more than 300 genes. Genetic counseling has recently been considered an essential part of the management of PIDs. This study presents the experience of genetic counseling services in the largest PID center in Egypt, and reports on our management plan and the impact of prenatal diagnosis (PND) on families...
September 12, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28894896/-hypospadias-insights-and-challenges
#17
I Rübben, R Stein
Disorders of the ventral tubularization of the urethra, such as the hypospadias, are among the second most frequent congenital childhood malformations. An increasing incidence has been observed suggesting a doubling in the US, which could not be documented for the European area. The underlying causes of this congenital defect remain unidentified. Genetic risk constellations or environmental influences, in particular by so-called endocrine disrupting chemicals (EDCs), are discussed as triggering factors. Boys after in vitro fertilization are more likely to have hypospadias than in nonreproductive-assisted pregnancies...
September 11, 2017: Der Urologe. Ausg. A
https://www.readbyqxmd.com/read/28893607/modification-of-adverse-health-effects-of-maternal-active-and-passive-smoking-by-genetic-susceptibility-dose-dependent-association-of-plasma-cotinine-with-infant-birth-size-among-japanese-women-the-hokkaido-study
#18
Sumitaka Kobayashi, Fumihiro Sata, Seiko Sasaki, Titilola Serifat Braimoh, Atsuko Araki, Chihiro Miyashita, Houman Goudarzi, Sachiko Kobayashi, Reiko Kishi
OBJECTIVES: We aimed to assess the individual dose-response effects of eight maternal polymorphisms encoding polycyclic aromatic hydrocarbon-metabolizing and DNA-repair genes on prenatal cotinine levels according to infant birth size. METHODS: In total, 3,263 Japanese pregnant women were assigned to five groups based on plasma cotinine levels during the 8th month of pregnancy, as measured using ELISA (cut-offs: 0.21, 0.55, 11.48, and 101.67ng/mL). Analyses were performed using multiple linear regression...
September 8, 2017: Reproductive Toxicology
https://www.readbyqxmd.com/read/28893219/a-case-of-a-four-year-old-child-adopted-at-eight-months-with-unusual-mood-patterns-and-significant-polypharmacy
#19
Magdalena Romanowicz, Alastair J McKean, Jennifer Vande Voort
BACKGROUND: Long-term effects of neglect in early life are still widely unknown. Diversity of outcomes can be explained by differences in genetic risk, epigenetics, prenatal factors, exposure to stress and/or substances, and parent-child interactions. Very common sub-threshold presentations of children with history of early trauma are challenging not only to diagnose but also in treatment. CASE PRESENTATION: A Caucasian 4-year-old, adopted at 8 months, male patient with early history of neglect presented to pediatrician with symptoms of behavioral dyscontrol, emotional dysregulation, anxiety, hyperactivity and inattention, obsessions with food, and attachment issues...
September 11, 2017: BMC Psychiatry
https://www.readbyqxmd.com/read/28891434/histology-atlas-of-the-developing-prenatal-and-postnatal-mouse-central-nervous-system-with-emphasis-on-prenatal-days-e7-5-to-e18-5
#20
Vivian S Chen, James P Morrison, Myra F Southwell, Julie F Foley, Brad Bolon, Susan A Elmore
Evaluation of the central nervous system (CNS) in the developing mouse presents unique challenges, given the complexity of ontogenesis, marked structural reorganization over very short distances in 3 dimensions each hour, and numerous developmental events susceptible to genetic and environmental influences. Developmental defects affecting the brain and spinal cord arise frequently both in utero and perinatally as spontaneous events, following teratogen exposure, and as sequelae to induced mutations and thus are a common factor in embryonic and perinatal lethality in many mouse models...
January 1, 2017: Toxicologic Pathology
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