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https://www.readbyqxmd.com/read/28723918/heterogeneity-of-p53-dependent-genomic-responses-following-ethanol-exposure-in-a-developmental-mouse-model-of-fetal-alcohol-spectrum-disorder
#1
Maria Camargo Moreno, Sandra M Mooney, Frank A Middleton
Prenatal ethanol exposure can produce structural and functional deficits in the brain and result in Fetal Alcohol Spectrum Disorder (FASD). In rodent models acute exposure to a high concentration of alcohol causes increased apoptosis in the developing brain. A single causal molecular switch that signals for this increase in apoptosis has yet to be identified. The protein p53 has been suggested to play a pivotal role in enabling cells to engage in pro-apoptotic processes, and thus figures prominently as a hub molecule in the intracellular cascade of responses elicited by alcohol exposure...
2017: PloS One
https://www.readbyqxmd.com/read/28716942/maternal-photoperiod-programs-hypothalamic-thyroid-status-via-the-fetal-pituitary-gland
#2
Cristina Sáenz de Miera, Béatrice Bothorel, Catherine Jaeger, Valérie Simonneaux, David Hazlerigg
In wild mammals, offspring development must anticipate forthcoming metabolic demands and opportunities. Within species, different developmental strategies may be used, dependent on when in the year conception takes place. This phenotypic flexibility is initiated before birth and is linked to the pattern of day length (photoperiod) exposure experienced by the mother during pregnancy. This programming depends on transplacental communication via the pineal hormone melatonin. Here, we show that, in the Siberian hamster (Phodopus sungorus), the programming effect of melatonin is mediated by the pars tuberalis (PT) of the fetal pituitary gland, before the fetal circadian system and autonomous melatonin production is established...
July 17, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28714607/new-insights-into-how-serotonin-selective-reuptake-inhibitors-shape-the-developing-brain
#3
REVIEW
Jay A Gingrich, Heli Malm, Mark S Ansorge, Alan Brown, Andre Sourander, Deepika Suri, Cátia M Teixeira, Martha K Caffrey Cagliostro, Darshini Mahadevia, Myrna M Weissman
Development passes through sensitive periods, during which plasticity allows for genetic and environmental factors to exert indelible influence on the maturation of the organism. In the context of central nervous system (CNS) development, such sensitive periods shape the formation of neuro-circuits that mediate, regulate, and control behavior. This general mechanism allows for development to be guided by both the genetic blueprint, as well as the environmental context. While allowing for adaptation, such sensitive periods are also windows of vulnerability during which external and internal factors can confer risk to brain disorders by derailing adaptive developmental programs...
July 17, 2017: Birth defects research
https://www.readbyqxmd.com/read/28710882/mid-trimester-preterm-premature-rupture-of-membranes-pprom-etiology-diagnosis-classification-international-recommendations-of-treatment-options-and-outcome
#4
REVIEW
Michael Tchirikov, Natalia Schlabritz-Loutsevitch, James Maher, Jörg Buchmann, Yuri Naberezhnev, Andreas S Winarno, Gregor Seliger
Mid-trimester preterm premature rupture of membranes (PPROM), defined as rupture of fetal membranes prior to 28 weeks of gestation, complicates approximately 0.4%-0.7% of all pregnancies. This condition is associated with a very high neonatal mortality rate as well as an increased risk of long- and short-term severe neonatal morbidity. The causes of the mid-trimester PPROM are multifactorial. Altered membrane morphology including marked swelling and disruption of the collagen network which is seen with PPROM can be triggered by bacterial products or/and pro-inflammatory cytokines...
July 15, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28709112/mens-inversus-in-corpore-inverso-language-lateralization-in-a-boy-with-situs-inversus-totalis
#5
Anna-Lisa Schuler, Gregor Kasprian, Ernst Schwartz, Rainer Seidl, Mariana C Diogo, Christian Mitter, Georg Langs, Daniela Prayer, Lisa Bartha-Doering
Situs inversus totalis is a rare condition where the visceral organs are organized as a mirror image of default organ position. In this study we picture the co-development between brain and visceral organs in a case of situs inversus totalis from a fetal stage to adolescence and compare our findings to an age-, gender-, and education-matched control with normal position of thoracic and abdominal organs. We show that in this case of situs inversus, functional and structural brain lateralization do not coincide with visceral organ situs...
July 11, 2017: Brain and Language
https://www.readbyqxmd.com/read/28706620/adams-oliver-syndrome-with-unusual-central-nervous-system-findings-and-an-extrahepatic-portosystemic-shunt
#6
Carlos Pérez-García, Yolanda Ruíz Martín, Alejandra Aguado Del Hoyo, Carlos Marín Rodríguez, Minia Campos Domínguez
We report a case of a premature neonate girl with scalp and skull defects and brachydactyly of the feet consistent with an Adams-Oliver syndrome (AOS). The patient had central nervous system abnormalities, such as periventricular calcifications, hypoplastic corpus callosum, and bilateral hemispheric corticosubcortical hemorrhagic lesions. A muscular ventricular septal defect and a portosystemic shunt were diagnosed. To our knowledge, this is the first report of congenital supratentorial grey-white matter junction lesions without dural sinus thrombosis in association with AOS...
June 26, 2017: Pediatric Reports
https://www.readbyqxmd.com/read/28705594/induction-of-abcg2-bcrp-restricts-the-distribution-of-zidovudine-to-the-fetal-brain-in-rats
#7
María Fernanda Filia, Timoteo Marchini, Juan Mauricio Minoia, Martín Ignacio Roma, Fernanda Teresa De Fino, Modesto Carlos Rubio, Guillermo J Copello, Pablo A Evelson, Roxana Noemí Peroni
Safety concerns for fetus development of zidovudine (AZT) administration as prophylaxis of vertical transmission of HIV persist. We evaluated the participation of the ATP-binding cassette efflux transporter ABCG2 in the penetration of AZT into the fetal brain and the relevance for drug safety. Oral daily doses of AZT (60mg/kg body weight) or its vehicle were administered between post gestational days 11 (E11) and 20 (E20) to Sprague-Dawley pregnant rats. At E21, animals received an intravenous bolus of 60mg AZT/kg body weight in the presence or absence of the ABCG2 inhibitor gefitinib (20mg/kg body weight, ip) and AZT in maternal plasma and fetal brain were measured by HPLC-UV...
July 10, 2017: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/28700709/eye-movement-activity-in-normal-human-fetuses-between-24-and-39-weeks-of-gestation
#8
Hikohiro Okawa, Seiichi Morokuma, Kana Maehara, Akiko Arata, Yoshiyuki Ohmura, Takashi Horinouchi, Yukuo Konishi, Kiyoko Kato
Rapid eye movement (REM) sleep occurs throughout a relatively large proportion of early development, and normal REM activity appears to be required for healthy brain development. The eye movements (EMs) observed during REM sleep are the most distinctive characteristics of this state. EMs are used as an index of neurological function postnatally, but no specific indices of EM activity exist for fetuses. We aimed to identify and characterize EM activity, particularly EM bursts suggestive of REM periods, in fetuses with a gestational age between 24 and 39 weeks...
2017: PloS One
https://www.readbyqxmd.com/read/28698032/beyond-infection-maternal-immune-activation-by-environmental-factors-microglial-development-and-relevance-for-autism-spectrum-disorders
#9
REVIEW
Staci D Bilbo, Carina L Block, Jessica L Bolton, Richa Hanamsagar, Phuong K Tran
Immune molecules such as cytokines and chemokines and the cells that produce them within the brain, notably microglia, are critical for normal brain development. This recognition has in recent years led to the working hypothesis that inflammatory events during pregnancy, e.g. in response to infection, may disrupt the normal expression of immune molecules during critical stages of neural development and thereby contribute to the risk for neurodevelopmental disorders such as autism spectrum disorder (ASD). This hypothesis has in large part been shepherded by the work of Dr...
July 8, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28696507/the-impact-of-epigenomic-next-generation-sequencing-approaches-on-our-understanding-of-neuropsychiatric-disorders
#10
REVIEW
Anne-Laure Schang, Délara Sabéran-Djoneidi, Valérie Mezger
Patients suffering from psychiatric disorders have a life span burden, which represents an enormous human, family, social, and economical cost. Several concepts have revolutionized our way of appraising neuropsychiatric disorders (NPDs). They result from a combination of genetic factors and environmental insults, and their etiology finds roots in the neurodevelopmental period. As epigenetic mechanisms tightly control brain development, exposure to adverse conditions disturbing the epigenetic landscape of the fetal brain increases the risk of developing NPDs, due to the persistence of abnormal epigenetic signatures, at distance from the initial stimulus...
July 11, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28694214/visualization-of-migration-of-human-cortical-neurons-generated-from-induced-pluripotent-stem-cells
#11
Yohei Bamba, Yonehiro Kanemura, Hideyuki Okano, Mami Yamasaki
BACKGROUND: Neuronal migration is considered a key process in human brain development. However, direct observation of migrating human cortical neurons in the fetal brain is accompanied by ethical concerns and is a major obstacle in investigating human cortical neuronal migration. NEW METHOD: We established a novel system that enables direct visualization of migrating cortical neurons generated from human induced pluripotent stem cells (hiPSCs). RESULTS: We observed the migration of cortical neurons generated from hiPSCs derived from a control and from a patient with lissencephaly...
July 8, 2017: Journal of Neuroscience Methods
https://www.readbyqxmd.com/read/28694114/epigenetic-dysregulation-of-protocadherins-in-human-disease
#12
REVIEW
Nady El Hajj, Marcus Dittrich, Thomas Haaf
Protocadherins (Pcdhs) are a group of cell-cell adhesion molecules that are highly expressed in the nervous system and have a major function in dendrite development and neural circuit formation. However, the role protocadherins play in human health and disease remains unclear. Several recent studies have associated epigenetic dysregulation of protocadherins with possible implications for disease pathogenesis. In this review, we briefly recap the various epigenetic mechanisms regulating protocadherin genes, particularly the clustered Pcdhs...
July 7, 2017: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/28686858/a-pentanucleotide-atttc-repeat-insertion-in-the-non-coding-region-of-dab1-mapping-to-sca37-causes-spinocerebellar-ataxia
#13
Ana I Seixas, Joana R Loureiro, Cristina Costa, Andrés Ordóñez-Ugalde, Hugo Marcelino, Cláudia L Oliveira, José L Loureiro, Ashutosh Dhingra, Eva Brandão, Vitor T Cruz, Angela Timóteo, Beatriz Quintáns, Guy A Rouleau, Patrizia Rizzu, Ángel Carracedo, José Bessa, Peter Heutink, Jorge Sequeiros, Maria J Sobrido, Paula Coutinho, Isabel Silveira
Advances in human genetics in recent years have largely been driven by next-generation sequencing (NGS); however, the discovery of disease-related gene mutations has been biased toward the exome because the large and very repetitive regions that characterize the non-coding genome remain difficult to reach by that technology. For autosomal-dominant spinocerebellar ataxias (SCAs), 28 genes have been identified, but only five SCAs originate from non-coding mutations. Over half of SCA-affected families, however, remain without a genetic diagnosis...
July 6, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28686357/homozygous-null-variant-in-cradd-encoding-an-adaptor-protein-that-mediates-apoptosis-is-associated-with-lissencephaly
#14
Tamar Harel, Nuphar Hacohen, Avraham Shaag, Moshe Gomori, Amihood Singer, Orly Elpeleg, Vardiella Meiner
Lissencephaly is a severe malformation of cortical development, most often attributed to abnormalities in neuronal migration. It is associated with a severe prognosis including developmental delay, intellectual disability, and seizures. Lissencephaly can be reliably diagnosed during late gestation by neurosonography or fetal magnetic resonance imaging (MRI). We report two sibling male fetuses who were diagnosed with delayed cortical sulcation highly suggestive of lissencephaly during late pregnancy. After receiving genetic counseling, the parents elected to terminate the pregnancies based on the neuroradiological findings and the associated severe prognosis...
July 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28683731/nephron-development-and-extrarenal-features-in-a-child-with-congenital-nephrotic-syndrome-caused-by-null-lamb2-mutations
#15
Jiro Kino, Hiroyasu Tsukaguchi, Takahisa Kimata, Huan Thanh Nguyen, Yorika Nakano, Noriko Miyake, Naomichi Matsumoto, Kazunari Kaneko
BACKGROUND: Congenital nephrotic syndrome (CNS) is a rare disorder caused by various structural and developmental defects of glomeruli. It occurs typically as an isolated kidney disorder but associates sometimes with other systemic, extrarenal manifestations. CASE PRESENTATIONS: An infant presented with severe CNS, which progressed rapidly to renal failure at age of 3 months and death at 27 months. The clinical phenotypes and genetic causes were studied, including the renal pathology at autopsy...
July 6, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28680507/bndf-methylation-in-mothers-and-newborns-is-associated-with-maternal-exposure-to-war-trauma
#16
Darlene A Kertes, Samarth S Bhatt, Hayley S Kamin, David A Hughes, Nicole C Rodney, Connie J Mulligan
BACKGROUND: The BDNF gene codes for brain-derived neurotrophic factor, a growth factor involved in neural development, cell differentiation, and synaptic plasticity. Present in both the brain and periphery, BDNF plays critical roles throughout the body and is essential for placental and fetal development. Rodent studies show that early life stress, including prenatal stress, broadly alters BDNF methylation, with presumed changes in gene expression. No studies have assessed prenatal exposure to maternal traumatic stress and BDNF methylation in humans...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28678541/mechanical-role-of-a-growing-solid-tumor-on-cortical-folding
#17
Mir Jalil Razavi, Mary Reeves, Xianqiao Wang
Cortical folding, or convolution of the brain, is a vital process in mammals that causes the brain to have a wrinkled appearance. The existence of different types of prenatal solid tumors may alter this complex phenomenon and cause severe brain disorders. Here we interpret the effects of a growing solid tumor on the cortical folding in the fetal brain by virtue of theoretical analyses and computational modeling. The developing fetal brain is modeled as a simple, double-layered, and soft structure with an outer cortex and an inner core, in combination with a circular tumor model imbedded in the structure to investigate the developmental mechanism of cortical convolution...
July 5, 2017: Computer Methods in Biomechanics and Biomedical Engineering
https://www.readbyqxmd.com/read/28674490/what-the-spectrum-of-microglial-functions-can-teach-us-about-fetal-alcohol-spectrum-disorder
#18
REVIEW
Elissa L Wong, Rianne D Stowell, Ania K Majewska
Alcohol exposure during gestation can lead to severe defects in brain development and lifelong physical, behavioral and learning deficits that are classified under the umbrella term fetal alcohol spectrum disorder (FASD). Sadly, FASD is diagnosed at an alarmingly high rate, affecting 2%-5% of live births in the United States, making it the most common non-heritable cause of mental disability. Currently, no standard therapies exist that are effective at battling FASD symptoms, highlighting a pressing need to better understand the underlying mechanisms by which alcohol affects the developing brain...
2017: Frontiers in Synaptic Neuroscience
https://www.readbyqxmd.com/read/28669797/an-examination-of-changes-in-maternal-neuroimmune-function-during-pregnancy-and-the-postpartum-period
#19
Morgan L Sherer, Caitlin K Posillico, Jaclyn M Schwarz
There is strong evidence that the immune system changes dramatically during pregnancy in order to prevent the developing fetus from being "attacked" by the maternal immune system. Due to these alterations in peripheral immune function, many women that suffer from autoimmune disorders actually find significant relief from their symptoms throughout pregnancy; however, these changes can also leave the mother more susceptible to infections that would otherwise be mitigated by the inflammatory response (Robinson and Klein, 2012)...
June 29, 2017: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/28668353/salsa-a-dance-on-a-slippery-floor-with-changing-partners
#20
M P Reichhardt, U Holmskov, S Meri
It is becoming increasingly clear that the connections between our immune system and the microbiota colonizing us have a tremendous impact on human health. A number of innate molecular defence mechanisms cooperate to selectively target unwanted microorganisms at the mucosal surfaces. Amongst others these include the complement system, IgA and the SALSA molecule. The salivary scavenger and agglutinin (SALSA), also known as deleted in malignant brain tumors 1 (DMBT1), salivary agglutinin (SAG) or gp340 is a multifunctional molecule with important functions in innate immunity, inflammation and epithelial homeostasis...
June 28, 2017: Molecular Immunology
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