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https://www.readbyqxmd.com/read/28324240/neurocognitive-profiles-in-msud-school-age-patients
#1
Juliette Bouchereau, Julie Leduc-Leballeur, Samia Pichard, Apolline Imbard, Jean-François Benoist, Marie-Thérèse Abi Warde, Jean-Baptiste Arnoux, Valérie Barbier, Anaïs Brassier, Pierre Broué, Aline Cano, Brigitte Chabrol, Gilles Damon, Claire Gay, Isabelle Guillain, Florence Habarou, Delphine Lamireau, Chris Ottolenghi, Laetitia Paermentier, Frédérique Sabourdy, Guy Touati, Hélène Ogier de Baulny, Pascale de Lonlay, Manuel Schiff
Maple syrup urine disease (MSUD), an inborn error of amino acids catabolism is characterized by accumulation of branched chain amino acids (BCAAs) leucine, isoleucine, valine and their corresponding alpha-ketoacids. Impact on the cognitive development has been reported historically, with developmental delays of varying degree. Currently, earlier diagnosis and improved management allow a better neurodevelopment, without requirement of special education. However, specific impairments can be observed, and so far, results of detailed neurocognitive assessments are not available...
March 21, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28323976/protective-effects-of-fetal-zone-steroids-are-comparable-to-estradiol-in-hyperoxia-induced-cell-death-of-immature-glia
#2
Stephanie Hübner, Donna E Sunny, Christine Pöhlke, Johanna Ruhnau, Antje Vogelgesang, Bettina Reich, Matthias Heckmann
Impaired neurodevelopment in preterm infants is caused by prematurity itself; however, hypoxia/ischemia, inflammation, and hyperoxia contribute to the extent of impairment. Because preterm birth is accompanied by a dramatic decrease in 17β-estradiol (E2) and progesterone, preliminary clinical studies have been carried out to substitute these steroids in preterm infants; however, they failed to confirm significantly improved neurological outcomes. We therefore hypothesized that the persistently high postnatal production of fetal zone steroids (mainly dehydroepiandrosterone (DHEA)) until term could interfere with E2-mediated protection...
March 3, 2017: Endocrinology
https://www.readbyqxmd.com/read/28318356/sexual-violence-against-adolescent-girls-labeling-it-to-avoid-normalization
#3
Giussy Barbara, Federica Collini, Cristina Cattaneo, Federica Facchin, Paolo Vercellini, Laura Chiappa, Alessandra Kustermann
Violence against women is a pervasive complex phenomenon that destroys women's feelings of love, trust, and self-esteem. In this commentary, we specifically focus on sexual violence against adolescent girls, whose impact is particularly harmful since it may lead to impaired mental health, social functioning, and neurodevelopment. Between 12% and 25% of adolescent girls throughout the world experience sexual violence, very often perpetrated by a family member or a friend. Moreover, for an alarming proportion of girls, the first sexual experience is coerced...
March 20, 2017: Journal of Women's Health
https://www.readbyqxmd.com/read/28315866/cerebrospinal-fluid-and-parenchymal-brain-development-and-growth-in-the-healthy-fetus
#4
Nickie N Andescavage, Adre DuPlessis, Robert McCarter, Gilbert Vezina, Richard Robertson, Catherine Limperopoulos
OBJECTIVE: The objective of this study was to apply quantitative magnetic resonance imaging to characterize absolute cerebrospinal fluid (CSF) development, as well as its relative development to fetal brain parenchyma in the healthy human fetus. DESIGN: We created three-dimensional high-resolution reconstructions of the developing brain for healthy fetuses between 18 and 40 weeks' gestation, segmented the parenchymal and CSF spaces, and calculated the volumes for the lateral, third, and fourth ventricles; extra-axial CSF space; and the cerebrum, cerebellum, and brainstem...
March 18, 2017: Developmental Neuroscience
https://www.readbyqxmd.com/read/28304149/predicting-brain-structure-in-population-based-samples-with-biologically-informed-genetic-scores-for-schizophrenia
#5
Sandra Van der Auwera, Katharina Wittfeld, Elena Shumskaya, Janita Bralten, Marcel P Zwiers, A Marten H Onnink, Niccolo Usberti, Johannes Hertel, Henry Völzke, Uwe Völker, Norbert Hosten, Barbara Franke, Hans J Grabe
Schizophrenia is associated with brain structural abnormalities including gray and white matter volume reductions. Whether these alterations are caused by genetic risk variants for schizophrenia is unclear. Previous attempts to detect associations between polygenic factors for schizophrenia and structural brain phenotypes in healthy subjects have been negative or remain non-replicated. In this study, we used genetic risk scores that were based on the accumulated effect of selected risk variants for schizophrenia belonging to specific biological systems like synaptic function, neurodevelopment, calcium signaling, and glutamatergic neurotransmission...
April 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28303321/serial-prenatal-and-postnatal-mri-of-dystroglycanopathy-in-a-patient-with-familial-b3galnt2-mutation
#6
Mai-Lan Ho, Orit A Glenn, Eliott H Sherr, Jonathan B Strober
The dystroglycanopathies are a heterogeneous group of conditions, with mutations in B3GALNT2 described in association with congenital muscular dystrophy. The serial prenatal MRI findings in this disorder have not been well described. We present sequential prenatal and postnatal MRI findings in a boy with compound heterozygous mutations in B3GALNT2, as well as the MRI findings of his two siblings with similar mutations. These findings provide new insight into the molecular pathogenesis and neurodevelopment of congenital muscular dystrophy...
March 16, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28302052/standardizing-effect-size-from-linear-regression-models-with-log-transformed-variables-for-meta-analysis
#7
Miguel Rodríguez-Barranco, Aurelio Tobías, Daniel Redondo, Elena Molina-Portillo, María José Sánchez
BACKGROUND: Meta-analysis is very useful to summarize the effect of a treatment or a risk factor for a given disease. Often studies report results based on log-transformed variables in order to achieve the principal assumptions of a linear regression model. If this is the case for some, but not all studies, the effects need to be homogenized. METHODS: We derived a set of formulae to transform absolute changes into relative ones, and vice versa, to allow including all results in a meta-analysis...
March 17, 2017: BMC Medical Research Methodology
https://www.readbyqxmd.com/read/28301849/long-term-adverse-effects-of-early-growth-acceleration-or-catch-up-growth
#8
Atul Singhal
BACKGROUND: Whilst prevention of growth faltering has both short- and long-term health benefits, whether too fast or accelerated infant growth adversely affects later health outcomes is controversial and a major focus of research. SUMMARY: Many observational studies suggest that rapid weight gain in infancy (upward centile crossing) increases the long-term risk of obesity and non-communicable disease. This association has been seen in infants from low- and high-income countries, in infants born preterm or at term, and those born with normal or low birth weight for gestation...
March 17, 2017: Annals of Nutrition & Metabolism
https://www.readbyqxmd.com/read/28299627/analysis-of-estrogen-receptor-%C3%AE-gene-methylation-in-autistic-males-in-a-chinese-han-population
#9
Xuelai Wang, Shuang Liang, Yi Sun, Haixin Li, Fumio Endo, Mitsuyoshi Nakao, Noriko Saitoh, Lijie Wu
Autism spectrum disorder (ASD) is a neurodevelopment disorder with abnormalities of social interaction, communication and repetitive behaviors. The higher prevalence of ASD in men implies a potential relationship between sex hormones and ASD etiology. The ESR2 gene encodes estrogen receptor beta (ESR2) and plays an important role during brain development. A relationship between ESR2 and ASD has been suggested by studies on single nucleotide polymorphisms and mRNA and protein expression levels in ASD patients...
March 16, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28297592/a-systematized-review-of-atypical-antipsychotics-in-pregnant-women-balancing-between-risks-of-untreated-illness-and-risks-of-drug-related-adverse-effects
#10
Sarah Tosato, Umberto Albert, Simona Tomassi, Felice Iasevoli, Claudia Carmassi, Silvia Ferrari, Maria Giulia Nanni, Alessandra Nivoli, Umberto Volpe, Anna Rita Atti, Andrea Fiorillo
OBJECTIVE: To summarize risks related to (1) illness and (2) second-generation antipsychotic (SGA) treatment in pregnant women and their offspring. Concerning illness-related risks, we focused on bipolar disorder and schizophrenia, psychiatric disorders for which SGAs are preferentially prescribed. DATA SOURCES: PubMed, Ovid, Scopus, PsycINFO, and Cochrane Library were searched from the date of the first available article to October 2015 using the following key terms: pregnancy OR gestation OR bipolar disorder OR schizophrenia...
March 14, 2017: Journal of Clinical Psychiatry
https://www.readbyqxmd.com/read/28295833/can-we-predict-subject-specific-dynamic-cortical-thickness-maps-during-infancy-from-birth
#11
Yu Meng, Gang Li, Islem Rekik, Han Zhang, Yaozong Gao, Weili Lin, Dinggang Shen
Understanding the early dynamic development of the human cerebral cortex remains a challenging problem. Cortical thickness, as one of the most important morphological attributes of the cerebral cortex, is a sensitive indicator for both normal neurodevelopment and neuropsychiatric disorders, but its early postnatal development remains largely unexplored. In this study, we investigate a key question in neurodevelopmental science: can we predict the future dynamic development of cortical thickness map in an individual infant based on its available MRI data at birth? If this is possible, we might be able to better model and understand the early brain development and also early detect abnormal brain development during infancy...
March 15, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28291971/can-gut-microbes-play-a-role-in-mental-disorders-and-their-treatment
#12
Klara Latalova, Miroslav Hajda, Jan Prasko
The gut microbes, collectively called microbiota, are linked to the brain through a bidirectional system that involves the vagus nerve, the immune system, and various neurotransmitters. Stress response, memory functions, social behavior, and mood are modulated by microbiota. Furthermore, microbiota play a role in the development of the central nervous system. These features, established largely in rodent studies, have informed hypotheses about the role of microbiota in human psychiatric disorders. Microbiota affect phenomena that are known to be parts of the depression phenotype, such as exaggerated response to stress and inflammatory features...
March 2017: Psychiatria Danubina
https://www.readbyqxmd.com/read/28288222/-the-benefits-of-breastfeeding-and-associated-risks-of-replacement-with-baby-formulas
#13
Paulina Brahm, Verónica Valdés
Breastfeeding is the nourishment designed by nature for the newborn and the infant; however its prevalence is nowadays not optimal. The aim of this article is to review the current evidence of the benefits of breastfeeding for children and society, and to elaborate the risks associated with the replacement of lactation with baby formulas. Breastfeeding is a protective factor for several infectious, atopic, and cardiovascular diseases as well as for leukaemia, necrotising enterocolitis, celiac disease, and inflammatory bowel disease...
February 2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28288149/prenatal-exposure-to-maternal-very-severe-obesity-is-associated-with-impaired-neurodevelopment-and-executive-functioning-in-children
#14
Theresia H Mina, Marius Lahti, Amanda J Drake, Fiona C Denison, Katri Räikkönen, Jane E Norman, Rebecca M Reynolds
BACKGROUND: Prenatal maternal obesity has been associated with an increased risk of neurocognitive problems in childhood, but there are fewer studies on executive functioning. METHODS: Tests and questionnaires to assess neurodevelopment, executive functioning and the ability to delay gratification were administered to 113 children (mean (SD)=4.24 (0.63) years of age) born to very severely obese mothers (SO, BMI≥ 40 Kg/m(2), n=51) or to lean mothers (BMI≤ 25 Kg/m(2), n=62)...
March 13, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28284640/exposure-to-organophosphorus-pesticides-in-norwegian-mothers-and-their-children-diurnal-variability-in-concentrations-of-their-biomarkers-and-associations-with-food-consumption
#15
Enrique Cequier, Amrit Kaur Sakhi, Line Småstuen Haug, Cathrine Thomsen
Several studies have suggested that exposure to organophosphorus (OP) pesticides is detrimental for health, and in particular for children where moderate doses may have a negative impact on the neurodevelopment. This study surveys levels of the 6 non-specific urinary metabolites (dialkyl phosphates (DAPs)) of OP pesticides in Norwegian mothers (n=48) and their children (n=54), and examines the diurnal variation in concentrations as well as associations with consumption of specific food products. The highest median concentration measured in urine was found for dimethyl thiophosphate (5...
March 8, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28284344/are-there-early-inflammatory-biomarkers-that-affect-neurodevelopment-in-infancy
#16
Núria Voltas, Victoria Arija, Carmen Hernández-Martínez, Rosa Jiménez-Feijoo, Natàlia Ferré, Josefa Canals
Few studies have investigated the relationship between post-natal inflammatory biomarkers at early age and child neurodevelopment outcomes. The main aim of this study was to examine the relationship between IL-6, IL-1β, IL-4 cytokines, as well as cortisol at 6 and 12months of age, and neurodevelopment and psychological problems at 30months of age. The study was conducted on a sample of 51 full-term newborns who were followed up at 6, 12, and 30months of age. Infant neurodevelopment was assessed using the Bayley Scales of Infant Development-II, psychological problems were assessed with the Child Behavior Checklist 1...
April 15, 2017: Journal of Neuroimmunology
https://www.readbyqxmd.com/read/28281303/long-chain-polyunsaturated-fatty-acid-supplementation-in-infants-born-at-term
#17
REVIEW
Bonny Jasani, Karen Simmer, Sanjay K Patole, Shripada C Rao
BACKGROUND: The long chain polyunsaturated fatty acids (LCPUFA) docosahexaenoic acid (DHA) and arachidonic acid (AA) are considered essential for maturation of the developing brain, retina and other organs in newborn infants. Standard infant milk formulae are not supplemented with LCPUFA; they contain only alpha-linolenic acid and linoleic acid, from which formula-fed infants must synthesise their own DHA and AA, respectively. Over the past few years, some manufacturers have added LCPUFA to formula milk and have marketed these products as providing an advantage for the overall development of full-term infants...
March 10, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28277380/update-on-developmental-anesthesia-neurotoxicity
#18
Laszlo Vutskits, Andrew Davidson
PURPOSE OF REVIEW: Adverse long-term impact of general anesthesia on the developing brain is a widely discussed and controversial issue with potential public health relevance. The goal of this article is to give insights into the most recent experimental and clinical observations aimed to advance our understanding in this field. RECENT FINDINGS: Recent investigations demonstrate long-term behavioral consequences of early-life anesthesia exposure in nonhuman primates under experimental conditions that are translationally relevant to human clinical practice...
March 8, 2017: Current Opinion in Anaesthesiology
https://www.readbyqxmd.com/read/28276750/red-blood-cell-distribution-width-is-not-a-reliable-biomarker-for-low-iron-stores-in-children-with-cystic-fibrosis
#19
M D Akkermans, L Uijterschout, M Nuijsink, D M Hendriks, J B van Goudoever, F Brus
Low iron stores in children, absolute iron deficiency (AID), can lead to impaired neurodevelopment and requires iron therapy. In the presence of infection/inflammation, like in cystic fibrosis (CF), serum ferritin (SF) is not a reliable biomarker for AID. Red blood cell distribution width (RDW) is a promising alternative reported not to be influenced by infection in healthy children. Currently, there are no data on the diagnostic capacity of RDW to detect AID in pediatric CF patients. This was a prospective observational study that investigated iron status biomarkers in 53 Dutch pediatric CF patients...
February 10, 2017: Pediatric Hematology and Oncology
https://www.readbyqxmd.com/read/28274169/safety-and-efficacy-of-topiramate-in-neonates-with-hypoxic-ischemic-encephalopathy-treated-with-hypothermia-neonati-a-feasibility-study
#20
Luca Filippi, Patrizio Fiorini, Serena Catarzi, Elettra Berti, Letizia Padrini, Elisa Landucci, Gianpaolo Donzelli, Laura Bartalena, Erika Fiorentini, Antonio Boldrini, Matteo Giampietri, Rosa Teresa Scaramuzzo, Giancarlo la Marca, Maria Luisa Della Bona, Simona Fiori, Francesca Tinelli, Ada Bancale, Andrea Guzzetta, Giovanni Cioni, Tiziana Pisano, Melania Falchi, Renzo Guerrini
Purpose To investigate the feasibility of a study based on treatment with topiramate added to moderate hypothermia in newborns with hypoxic ischemic encephalopathy (HIE). Materials and methods Multicenter randomized controlled trial. Term newborns with precocious metabolic, clinical and electroencephalographic (EEG) signs of HIE were selected according to their amplified integrated EEG pattern and randomized to receive either topiramate (10 mg/kg once a day for the first three days of life) plus moderate hypothermia or hypothermia alone...
March 8, 2017: Journal of Maternal-fetal & Neonatal Medicine
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