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https://www.readbyqxmd.com/read/28822941/selenium-status-during-pregnancy-influential-factors-and-effects-on-neuropsychological-development-among-spanish-infants
#1
Rubén Amorós, Mario Murcia, Ferran Ballester, Karin Broberg, Carmen Iñiguez, Marisa Rebagliato, Helena Skröder, Llúcia González, Maria-Jose Lopez-Espinosa, Sabrina Llop
Selenium (Se) has been positively associated with neurodevelopment in early life. However, its margin of safety is rather narrow, and few prospective studies have evaluated its potential neurotoxic effects at intermediate levels. We aimed to explore the association between maternal Se concentrations and child neuropsychological development, including the genetic effect modification of the Se metabolizing gene INMT. Study subjects were 650 mother-child pairs from the Spanish Childhood and Environment Project (INMA, 2003-2005)...
August 17, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28822901/morphological-and-molecular-differences-in-corpus-luteum-of-pregnant-sows-from-divergent-genetic-groups
#2
Karine A Costa, Walmir da Silva, Renata Veroneze, José C Montes, Lucas L Verardo, Margareth E Botelho, Márcio S Duarte, Mariana M Neves, Paulo S Lopes, José D Guimarães, Susana A Teixeira, Laene Alcantara, Simone E F Guimarães
Comprehending mechanisms controlling corpus luteum (CL) angiogenesis and apoptosis in pregnant sows is essential to understand the physiological role of these processes in CL function, progesterone production and consequently in conceptus development and prenatal mortality. CL from 54 sows from two genetic groups, a commercial line (COM) and the local Piau breed (LPB), were obtained for gene expression (n = 3 COM; n = 6 LPB), histological and protein analysis (n = 3 COM; n = 3 LPB), divided in six gestational ages (seven, 15, 30, 45, 60 and 90 days)...
July 29, 2017: Theriogenology
https://www.readbyqxmd.com/read/28822876/effect-of-maternal-feed-restriction-on-prenatal-development-in-rats-and-rabbits-a-review-of-published-data
#3
Dana Nitzsche
With respect to hazard classification for developmental toxicity under the CLP Regulation it is important to consider the possible influence of maternal toxicity. The aim of the present review was to characterize to which extent developmental effects could be caused by non-specific maternal toxicity. Such effects would not be relevant for classification. In prenatal developmental toxicity studies, the administration of high doses is given in the guideline. The associated non-specific systemic toxicity often affects the maternal body weight...
August 16, 2017: Regulatory Toxicology and Pharmacology: RTP
https://www.readbyqxmd.com/read/28822227/inborn-errors-of-metabolism-in-a-cohort-of-pregnancies-with-non-immune-hydrops-fetalis-a-single-center-experience
#4
Zandrè Bruwer, Nihal Al Riyami, Tamima Al Dughaishi, Fathiya Al Murshedi, Abeer Al Sayegh, Adila Al Kindy, Douja Meftah, Khalsa Al Kharusi, Amel Al Foori, Naeema Al Yarubi, Patrick Scott, Khalid Al-Thihli
OBJECTIVE: The purpose of this study was to determine the frequency of non-immune hydrops fetalis (NIHF) among all pregnancies referred for prenatal care at Sultan Qaboos University Hospital (SQUH) during the study period and to evaluate the underlying etiologies of NIH. STUDY DESIGN: All pregnancies referred to SQUH between February 2014 and December 2015 were identified, and all pregnancies meeting the diagnosis of NIHF were included in this study. All cases of NIHF referred to our center during this period underwent standard systematic diagnostic work-up that included biochemical and molecular studies in addition to the standard investigations for hydrops fetalis...
August 19, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28821999/developmental-neurotoxicity-of-the-hippocampus-following-in-utero-exposure-to-methylmercury-impairment-in-cell-signaling
#5
Luana Heimfarth, Jeferson Delgado, Moara Rodrigues Mignori, Daniel Pens Gelain, José Cláudio Fonseca Moreira, Regina Pessoa-Pureur
In this study, we assessed some hippocampal signaling cascades and behavioral impairments in 30-day-old rat pups prenatally exposed to methylmercury (MeHg). Pregnant rats were exposed to 1.0 or 2.0 mg/kg MeHg by gavage in alternated days from gestational day 5 until parturition. We found increased anxiety-like and decreased exploration behavior evaluated by open field test and deficit of both short- and long-term memories by novel object recognition task, respectively, in MeHg-treated pups. Downregulated PI3K/Akt/mTOR pathway and activated/hypophosphorylated (Ser9) GSK3β in MeHg-treated pups could be upstream of hyperphosphorylated Tau (Ser396) destabilizing microtubules and contributing to neural dysfunction in the hippocampus of these rats...
August 18, 2017: Archives of Toxicology
https://www.readbyqxmd.com/read/28821725/interplay-between-maternal-slc6a4-mutation-and-prenatal-stress-a-possible-mechanism-for-autistic-behavior-development
#6
Calvin P Sjaarda, Patrick Hecht, Amy J M McNaughton, Audrina Zhou, Melissa L Hudson, Matt J Will, Garth Smith, Muhammad Ayub, Ping Liang, Nansheng Chen, David Beversdorf, Xudong Liu
The low activity allele of the maternal polymorphism, 5HTTLPR, in the serotonin transporter, SLC6A4, coupled with prenatal stress is reported to increase the risk for children to develop autism spectrum disorder (ASD). Similarly, maternal Slc6a4 knock-out and prenatal stress in rodents results in offspring demonstrating ASD-like characteristics. The present study uses an integrative genomics approach to explore mechanistic changes in early brain development in mouse embryos exposed to this maternal gene-environment phenomenon...
August 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28821499/primary-ventricular-tachycardia-in-paediatric-population-in-a-tertiary-centre
#7
Shuenn-Nan Chiu, Wei-Lun Wu, Chun-Wei Lu, Wei-Chieh Tseng, Kun-Lang Wu, Jou-Kou Wang, Mei-Hwan Wu
OBJECTIVE: To delineate the outcome of ventricular tachycardia (VT) in the paediatric population. METHODS: Patients who developed sustained VT between the ages of 0 and 18 years in a referral centre from 1991 to 2015 were enrolled. RESULTS: A total of 116 patients (67 male/49 female) had documented VT, and 53 (46%) had associated heart disease, namely cardiomyopathy in 20 (17%), structural heart disease in 19 (16%) and channelopathy in 14 (12%), and some of them presented with two types of associated heart disease...
August 18, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28821231/novel-mutations-in-pank2-and-pla2g6-genes-in-patients-with-neurodegenerative-disorders-two-case-reports
#8
Hassan Dastsooz, Hamid Nemati, Mohammad Ali Farazi Fard, Majid Fardaei, Mohammad Ali Faghihi
BACKGROUND: Neurodegeneration with brain iron accumulation (NBIA) is a genetically heterogeneous group of disorders associated with progressive impairment of movement, vision, and cognition. The disease is initially diagnosed on the basis of changes in brain magnetic resonance imaging which indicate an abnormal brain iron accumulation in the basal ganglia. However, the diagnosis of specific types should be based on both clinical findings and molecular genetic testing for genes associated with different types of NBIA, including PANK2, PLA2G6, C19orf12, FA2H, ATP13A2, WDR45, COASY, FTL, CP, and DCAF17...
August 18, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28820892/maternal-autoimmune-antibodies-alter-the-dendritic-arbor-and-spine-numbers-in-the-infragranular-layers-of-the-cortex
#9
Jeanelle Ariza, Jesus Hurtado, Haille Rogers, Raymond Ikeda, Michael Dill, Craig Steward, Donnay Creary, Judy Van de Water, Verónica Martínez-Cerdeño
An association between maternal IgG antibodies reactive against proteins in fetal brain and an outcome of autism in the child has been identified. Using a mouse model of prenatal intraventricular administration of autism-specific maternal IgG, we demonstrated that these antibodies produce behavioral alterations similar to those in children with ASD. We previously demonstrated that these antibodies bind to radial glial stem cells (RG) and observed an increase in the number of divisions of translocating RG in the developing cortex...
2017: PloS One
https://www.readbyqxmd.com/read/28820889/altered-fetal-growth-placental-abnormalities-and-stillbirth
#10
Radek Bukowski, Nellie I Hansen, Halit Pinar, Marian Willinger, Uma M Reddy, Corette B Parker, Robert M Silver, Donald J Dudley, Barbara J Stoll, George R Saade, Matthew A Koch, Carol Hogue, Michael W Varner, Deborah L Conway, Donald Coustan, Robert L Goldenberg
BACKGROUND: Worldwide, stillbirth is one of the leading causes of death. Altered fetal growth and placental abnormalities are the strongest and most prevalent known risk factors for stillbirth. The aim of this study was to identify patterns of association between placental abnormalities, fetal growth, and stillbirth. METHODS AND FINDINGS: Population-based case-control study of all stillbirths and a representative sample of live births in 59 hospitals in 5 geographic areas in the U...
2017: PloS One
https://www.readbyqxmd.com/read/28820871/genetic-predisposition-to-fetal-alcohol-syndrome-association-with-congenital-disorders-of-n-glycosylation
#11
María E de la Morena-Barrio, María J Ballesta-Martínez, Raquel López-Gálvez, Ana I Antón, Vanessa López-González, Laia Martínez-Ribot, José Padilla, Antonia Miñano, Oscar García-Algar, Miguel Del Campo, Javier Corral, Encarna Guillén-Navarro, Vicente Vicente
BACKGROUND: Fetal alcohol syndrome (FAS) is caused by maternal alcohol consumption during pregnancy, although additional factors must be involved, as development and severity are not directly related to alcohol intake. The abnormal glycosylation caused by alcohol might play a role in FAS according to the clinical similarities shared with congenital disorders of glycosylation (CDG). Thus, mutations underlying CDG, affecting genes involved in glycosylation, could also be involved in FAS...
August 18, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28820410/-changing-of-stillbirth-risks-in-different-options-of-its-registration
#12
S Mamedova
Purpose of the study - comparing of stillbirth rates and some of its risk factors in different options (after 22 and 28 completed weeks of gestation) of its registration. This study was conducted on the basis of a regional prenatal centre. Monitoring was conducted retrospectively with continuous coverage of all cases of completed pregnancy after 22 completed weeks of gestation. Stillbirth coefficient was calculated based on body weight (500 grams or more - I option, and a 1000 grams - II option) based on 100 of all birth cases (corresponding to 500 grams body weight or more, and 1,000 grams or more)...
July 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28820180/osteogenesis-imperfecta
#13
REVIEW
Joan C Marini, Antonella Forlino, Hans Peter Bächinger, Nick J Bishop, Peter H Byers, Anne De Paepe, Francois Fassier, Nadja Fratzl-Zelman, Kenneth M Kozloff, Deborah Krakow, Kathleen Montpetit, Oliver Semler
Skeletal deformity and bone fragility are the hallmarks of the brittle bone dysplasia osteogenesis imperfecta. The diagnosis of osteogenesis imperfecta usually depends on family history and clinical presentation characterized by a fracture (or fractures) during the prenatal period, at birth or in early childhood; genetic tests can confirm diagnosis. Osteogenesis imperfecta is caused by dominant autosomal mutations in the type I collagen coding genes (COL1A1 and COL1A2) in about 85% of individuals, affecting collagen quantity or structure...
August 18, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28818244/breastfeeding-and-breast-cancer-risk-reduction-implications-for-black-mothers
#14
Erica H Anstey, Meredith L Shoemaker, Chloe M Barrera, Mary Elizabeth O'Neil, Ashley B Verma, Dawn M Holman
Breast cancer is the most commonly diagnosed cancer and a leading cause of death from cancer among U.S. women. Studies have suggested that breastfeeding reduces breast cancer risk among parous women, and there is mounting evidence that this association may differ by subtype such that breastfeeding may be more protective of some invasive breast cancer types. The purpose of this review is to discuss breast cancer disparities in the context of breastfeeding and the implications for black mothers. Black women in the U...
September 2017: American Journal of Preventive Medicine
https://www.readbyqxmd.com/read/28817240/prenatal-presentation-of-mabry-syndrome-with-congenital-diaphragmatic-hernia-and-phenotypic-overlap-with-fryns-syndrome
#15
Kara K Reynolds, Jane Juusola, Gregory M Rice, Philip F Giampietro
We report on a family in which initial features were compatible with Fryns syndrome. The first sibling was a stillborn female with a left diaphragmatic hernia (DH). Her clinical features overlapped with Fryns syndrome. The second pregnancy, a male fetus, was followed for polyhydramnios, hypoplastic mandible, mild enlargement of the fetal bladder, hydronephrosis, and rocker bottom foot deformities. He had facial features similar to his sibling and a large cleft of the secondary palate, small jaw, and secundum atrial septal defect...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28817112/monoallelic-and-biallelic-creb3l1-variant-causes-mild-and-severe-osteogenesis-imperfecta-respectively
#16
Rachel B Keller, Thao T Tran, Shawna M Pyott, Melanie G Pepin, Ravi Savarirayan, George McGillivray, Deborah A Nickerson, Michael J Bamshad, Peter H Byers
PurposeOsteogenesis imperfecta (OI) is a heritable skeletal dysplasia. Dominant pathogenic variants in COL1A1 and COL1A2 explain the majority of OI cases. At least 15 additional genes have been identified, but those still do not account for all OI phenotypes that present. We sought the genetic cause of mild and lethal OI phenotypes in an unsolved family.MethodsWe performed exome sequencing on seven members of the family, both affected and unaffected.ResultsWe identified a variant in cyclic AMP responsive element binding protein 3-like 1 (CREB3L1) in a consanguineous family...
August 17, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28816972/low-second-to-fourth-digit-ratio-in-dupuytren-disease
#17
Takuya Yokoi, Takuya Uemura, Kenichi Kazuki, Ema Onode, Kosuke Shintani, Mitsuhiro Okada, Hiroaki Nakamura
The ratio of the lengths of the second and fourth digits (2D:4D) has been described as reflecting endogenous prenatal androgen exposure. In general, 2D:4D is lower in men than in women and has potential as a biomarker or predictor for various diseases, athletic ability, and academic performance. Dupuytren disease has digital flexion contractures and is known to predominate in men, but the pathogenesis of the disease remains unclear. To clarify the relationships between Dupuytren disease and endogenous androgens, we performed a retrospective analysis of hand radiographs to investigate 2D:4D in Dupuytren disease...
August 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28816000/investigating-facial-phenotype-in-autism-spectrum-conditions-the-importance-of-a-hypothesis-driven-approach
#18
Maryam Boutrus, Murray T Maybery, Gail A Alvares, Diana Weiting Tan, Kandice J Varcin, Andrew J O Whitehouse
Atypical facial characteristics have been observed in many disorders associated with developmental disability. While autism spectrum conditions (ASC) have not previously been thought to be associated with a distinct facial phenotype, an emerging research literature is casting doubt on this assumption. The identification of differences in the facial phenotype of individuals with ASC may contribute to efforts to promote early identification of the condition and help elucidate etiological pathways. With the aim of identifying facial phenotypes associated with ASC, this commentary evaluated facial features purported to distinguish ASC from typical development...
August 17, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28815989/can-we-improve-risk-communication-about-non-invasive-prenatal-testing
#19
Dafina Petrova, Rocio Garcia-Retamero
Diagnostic information from prenatal screening for Down syndrome can help families prepare for the birth of a child with special needs or help them decide whether they want to continue with the pregnancy. Currently in the UK women are offered the combined screening test (a blood test and an ultrasound) that categorizes them into "higher risk" or "lower risk" groups (see www.nhs.uk). Women at higher risk are offered a diagnostic test, such as amniocentesis or chorionic villus sampling (CVS). These diagnostic tests are invasive and carry a 0...
August 17, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28815877/new-intragenic-rearrangements-in-non-finnish-mulibrey-nanism
#20
Florence Jobic, Gilles Morin, Catherine Vincent-Delorme, Estelle Cadet, Rosalie Cabry, Michèle Mathieu-Dramard, Henri Copin, Jacques Rochette, Guillaume Jedraszak
Prenatal growth is a complex dynamic process controlled by various genetic and environmental factors. Among genetic syndromes characterized by growth restriction, MULIBREY nanism represents a rare autosomal recessive condition presenting with severe pre- and post-natal growth failure, characteristic dysmorphic features but normal neurological development. The phenotype of MULIBREY nanism is variable and overlaps with others such as the Silver-Russell syndrome. We report here three patients in two distinct non-Finnish families from North France who were first suspected to have Silver-Russell syndrome which failed to be confirmed on molecular analyses...
August 17, 2017: American Journal of Medical Genetics. Part A
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