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Global developmental delay

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https://www.readbyqxmd.com/read/28088106/uv-a-induced-delayed-development-in-the-larvae-of-coral-seriatopora-caliendrum
#1
Jie Zhou, Tung-Yung Fan, John Beardall, Kunshan Gao
Coral reefs are vulnerable to ultraviolet radiation (UVR, 280-400nm). Not only do the fluxes of UVR fluctuate daily, they are also increasing due to global ocean and atmospheric changes. The deleterious effects of UVR on scleractinian corals have been intensively studied, but much less is known about the response of corals in the early pre-settlement phase. In this study, we tested how UVR exposure affects survival and development of Seriatopora caliendrum larvae and examined the photophysiological changes induced in the symbiotic dinoflagellate Symbiodinium...
January 4, 2017: Journal of Photochemistry and Photobiology. B, Biology
https://www.readbyqxmd.com/read/28087732/novel-gnb1-mutations-disrupt-assembly-and-function-of-g-protein-heterotrimers-and-cause-global-developmental-delay-in-humans
#2
Katja Lohmann, Ikuo Masuho, Dipak N Patil, Hauke Baumann, Eva Hebert, Sofia Steinrücke, Daniel Trujillano, Nickolas K Skamangas, Valerija Dobricic, Irina Hüning, Gabriele Gillessen-Kaesbach, Ana Westenberger, Dusanka Savic-Pavicevic, Alexander Münchau, Gabriela Oprea, Christine Klein, Arndt Rolfs, Kirill A Martemyanov
Global developmental delay (GDD), often accompanied by intellectual disability, seizures and other features is a severe, clinically and genetically highly heterogeneous childhood-onset disorder. In cases where genetic causes have been identified, de-novo mutations in neuronally expressed genes are a common scenario. These mutations can be best identified by exome sequencing of parent-offspring trios. De novo mutations in the guanine nucleotide-binding protein, beta 1 (GNB1) gene, encoding the Gβ1 subunit of heterotrimeric G proteins, have recently been identified as a novel genetic cause of GDD...
January 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28039919/hearing-impairment-in-a-female-infant-with-interstitial-deletion-of-2q24-1q24-3
#3
Hiroaki Ono, Kenji Kurosawa, Nobuaki Wakamatsu, Shin Masuda
Patients with interstitial deletions in 2q24.1q24.3 are rarely reported. These patients manifest a variety of clinical features in addition to intellectual disability, depending on the size and location of the deletion. We report a female patient with interstitial deletion of 5.5 Mb in 2q24.1q24.3, who showed intrauterine growth retardation, hypotonia, global developmental delay, microcephaly, and characteristic facial appearance. In addition, she had hearing impairment, with no auditory brainstem response...
December 30, 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/28034892/how-i-treat-anemia-in-pregnancy-iron-cobalamin-and-folate
#4
Maureen M Achebe, Anat Gafter-Gvili
Anemia of pregnancy is considered a global health problem, affecting almost 50% of pregnant women. Anemia is an important risk factor for both fetal and maternal morbidity. The purpose of this article is to discuss diagnosis and management of the most frequent causes of anemia in pregnancy: iron, cobalamin and folate deficiencies. This paper considers three clinical cases. Iron deficiency is the most common cause. The laboratory tests that define iron deficiency, the recognition of developmental delays and cognitive abnormalities in iron-deficient neonates and the literature addressing the efficacy and safety of intravenous iron in pregnancy are reviewed...
December 29, 2016: Blood
https://www.readbyqxmd.com/read/28030855/a-rare-de-novo-interstitial-duplication-at-4p15-2-in-a-boy-with-severe-congenital-heart-defects-limb-anomalies-hypogonadism-and-global-developmental-delay
#5
Liyang Liang, Yingjun Xie, Yiping Shen, Qibin Yin, Haiming Yuan
Proximal 4p deletion syndrome is a relatively rare genetic condition characterized by dysmorphic facial features, limb anomalies, minor congenital heart defects, hypogonadism, cafe-au-lait spots, developmental delay, tall and thin habitus, and intellectual disability. At present, over 20 cases of this syndrome have been published. However, duplication of the same region in proximal 4p has never been reported. Here, we describe a 2-year-5-month-old boy with severe congenital heart defects, limb anomalies, hypogonadism, distinctive facial features, pre- and postnatal developmental delay, and mild cognitive impairments...
December 29, 2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28028212/loss-of-the-golgin-gm130-causes-golgi-disruption-purkinje-neuron-loss-and-ataxia-in-mice
#6
Chunyi Liu, Mei Mei, Qiuling Li, Peristera Roboti, Qianqian Pang, Zhengzhou Ying, Fei Gao, Martin Lowe, Shilai Bao
The Golgi apparatus lies at the heart of the secretory pathway where it is required for secretory trafficking and cargo modification. Disruption of Golgi architecture and function has been widely observed in neurodegenerative disease, but whether Golgi dysfunction is causal with regard to the neurodegenerative process, or is simply a manifestation of neuronal death, remains unclear. Here we report that targeted loss of the golgin GM130 leads to a profound neurological phenotype in mice. Global KO of mouse GM130 results in developmental delay, severe ataxia, and postnatal death...
December 27, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28018439/phelan-mcdermid-syndrome-presenting-with-developmental-delays-and-facial-dysmorphisms
#7
Yoon-Myung Kim, In-Hee Choi, Jun Suk Kim, Ja Hye Kim, Ja Hyang Cho, Beom Hee Lee, Gu-Hwan Kim, Jin-Ho Choi, Eul-Ju Seo, Han-Wook Yoo
Phelan-McDermid syndrome is a rare genetic disorder caused by the terminal or interstitial deletion of the chromosome 22q13.3. Patients with this syndrome usually have global developmental delay, hypotonia, and speech delays. Several putative genes such as the SHANK3, RAB, RABL2B, and IB2 are responsible for the neurological features. This study describes the clinical features and outcomes of Korean patients with Phelan-McDermid syndrome. Two patients showing global developmental delay, hypotonia, and speech delay were diagnosed with Phelan-McDermid syndrome via chromosome analysis, fluorescent in situ hybridization, and multiplex ligation-dependent probe amplification analysis...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28018437/1p36-deletion-syndrome-confirmed-by-fluorescence-in-situ-hybridization-and-array-comparative-genomic-hybridization-analysis
#8
Dong Soo Kang, Eunsim Shin, Jeesuk Yu
Pediatric epilepsy can be caused by various conditions, including specific syndromes. 1p36 deletion syndrome is reported in 1 in 5,000-10,000 newborns, and its characteristic clinical features include developmental delay, mental retardation, hypotonia, congenital heart defects, seizure, and facial dysmorphism. However, detection of the terminal deletion in chromosome 1p by conventional G-banded karyotyping is difficult. Here we present a case of epilepsy with profound developmental delay and characteristic phenotypes...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28017372/a-syndromic-neurodevelopmental-disorder-caused-by-de-novo-variants-in-ebf3
#9
Hsiao-Tuan Chao, Mariska Davids, Elizabeth Burke, John G Pappas, Jill A Rosenfeld, Alexandra J McCarty, Taylor Davis, Lynne Wolfe, Camilo Toro, Cynthia Tifft, Fan Xia, Nicholas Stong, Travis K Johnson, Coral G Warr, Shinya Yamamoto, David R Adams, Thomas C Markello, William A Gahl, Hugo J Bellen, Michael F Wangler, May Christine V Malicdan
Early B cell factor 3 (EBF3) is a member of the highly evolutionarily conserved Collier/Olf/EBF (COE) family of transcription factors. Prior studies on invertebrate and vertebrate animals have shown that EBF3 homologs are essential for survival and that loss-of-function mutations are associated with a range of nervous system developmental defects, including perturbation of neuronal development and migration. Interestingly, aristaless-related homeobox (ARX), a homeobox-containing transcription factor critical for the regulation of nervous system development, transcriptionally represses EBF3 expression...
January 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28017364/contrasting-effects-of-hypoxia-on-copper-toxicity-during-development-in-the-three-spined-stickleback-gasterosteus-aculeatus
#10
Jennifer A Fitzgerald, Ioanna Katsiadaki, Eduarda M Santos
Hypoxia is a global problem in aquatic systems and often co-occurs with pollutants. Despite this, little is known about the combined effects of these stressors on aquatic organisms. The objective of this study was to investigate the combined effects of hypoxia and copper, a toxic metal widespread in the aquatic environment. We used the three-spined stickleback (Gasterosteus aculeatus) as a model because of its environmental relevance and amenability for environmental toxicology studies. We focused on embryonic development as this is considered to be a sensitive life stage to environmental pollution...
December 22, 2016: Environmental Pollution
https://www.readbyqxmd.com/read/28007989/cad-mutations-and-uridine-responsive-epileptic-encephalopathy
#11
Johannes Koch, Johannes A Mayr, Bader Alhaddad, Christian Rauscher, Jörgen Bierau, Reka Kovacs-Nagy, Karlien L M Coene, Ingrid Bader, Monika Holzhacker, Holger Prokisch, Hanka Venselaar, Ron A Wevers, Felix Distelmaier, Tilman Polster, Steffen Leiz, Cornelia Betzler, Tim M Strom, Wolfgang Sperl, Thomas Meitinger, Saskia B Wortmann, Tobias B Haack
Unexplained global developmental delay and epilepsy in childhood pose a major socioeconomic burden. Progress in defining the molecular bases does not often translate into effective treatment. Notable exceptions include certain inborn errors of metabolism amenable to dietary intervention. CAD encodes a multifunctional enzyme involved in de novo pyrimidine biosynthesis. Alternatively, pyrimidines can be recycled from uridine. Exome sequencing in three families identified biallelic CAD mutations in four children with global developmental delay, epileptic encephalopathy, and anaemia with anisopoikilocytosis...
December 21, 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28007986/phospholipase-a2-activating-protein-is-associated-with-a-novel-form-of-leukoencephalopathy
#12
Tzipora C Falik Zaccai, David Savitzki, Yifat Zivony-Elboum, Thierry Vilboux, Eric C Fitts, Yishay Shoval, Limor Kalfon, Nadra Samra, Zohar Keren, Bella Gross, Natalia Chasnyk, Rachel Straussberg, James C Mullikin, Jamie K Teer, Dan Geiger, Daniel Kornitzer, Ora Bitterman-Deutsch, Abraham O Samson, Maki Wakamiya, Johnny W Peterson, Michelle L Kirtley, Iryna V Pinchuk, Wallace B Baze, William A Gahl, Robert Kleta, Yair Anikster, Ashok K Chopra
Leukoencephalopathies are a group of white matter disorders related to abnormal formation, maintenance, and turnover of myelin in the central nervous system. These disorders of the brain are categorized according to neuroradiological and pathophysiological criteria. Herein, we have identified a unique form of leukoencephalopathy in seven patients presenting at ages 2 to 4 months with progressive microcephaly, spastic quadriparesis, and global developmental delay. Clinical, metabolic, and imaging characterization of seven patients followed by homozygosity mapping and linkage analysis were performed...
December 21, 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27998308/semilobar-holoprosencephaly-in-a-12-month-old-baby-boy-born-to-a-primigravida-patient-with-type-1-diabetes-mellitus-a-case-report
#13
Pedro Pallangyo, Frederick Lyimo, Paulina Nicholaus, Hilda Makungu, Maria Mtolera, Isaac Mawenya
BACKGROUND: Holoprosencephaly is a rare spectrum of cephalic disorders resulting from a failure or incomplete division of the embryonic forebrain into distinct cerebral hemispheres. It is the most common brain malformation with an incidence of 1:250 during embryogenesis; however, owing to the associated high rates of spontaneous abortion the incidence is 1:16,000 among live deliveries. Pathogenesis of holoprosencephaly is complex and heterogeneous involving genetic abnormalities, teratogenic exposures, and syndromic associations...
December 20, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27982121/ionizing-radiation-from-chernobyl-affects-development-of-wild-carrot-plants
#14
Zbyszek Boratyński, Javi Miranda Arias, Cristina Garcia, Tapio Mappes, Timothy A Mousseau, Anders P Møller, Antonio Jesús Muñoz Pajares, Marcin Piwczyński, Eugene Tukalenko
Radioactivity released from disasters like Chernobyl and Fukushima is a global hazard and a threat to exposed biota. To minimize the deleterious effects of stressors organisms adopt various strategies. Plants, for example, may delay germination or stay dormant during stressful periods. However, an intense stress may halt germination or heavily affect various developmental stages and select for life history changes. Here, we test for the consequence of exposure to ionizing radiation on plant development. We conducted a common garden experiment in an uncontaminated greenhouse using 660 seeds originating from 33 wild carrots (Daucus carota) collected near the Chernobyl nuclear power plant...
December 16, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27981403/de-novo-transcriptome-sequencing-and-analysis-of-freshwater-snail-radix-balthica-to-discover-genes-and-pathways-affected-by-exposure-to-oxazepam
#15
Jean-Yves Mazzitelli, Elsa Bonnafe, Christophe Klopp, Frédéric Escudier, Florence Geret
Pharmaceuticals are increasingly found in aquatic ecosystems due to the non-efficiency of waste water treatment plants. Therefore, aquatic organisms are frequently exposed to a broad diversity of pharmaceuticals. Freshwater snail Radix balthica has been chosen as model to study the effects of oxazepam (psychotropic drug) on developmental stages ranging from trochophore to hatching. In order to provide a global insight of these effects, a transcriptome deep sequencing has been performed on exposed embryos. Eighteen libraries were sequenced, six libraries for three conditions: control, exposed to the lowest oxazepam concentration with a phenotypic effect (delayed hatching) (TA) and exposed to oxazepam concentration found in freshwater (TB)...
December 15, 2016: Ecotoxicology
https://www.readbyqxmd.com/read/27955636/effects-of-delaying-binge-drinking-on-adolescent-brain-development-a-longitudinal-neuroimaging-study
#16
Josiane Bourque, Travis E Baker, Alain Dagher, Alan C Evans, Hugh Garavan, Marco Leyton, Jean R Séguin, Robert Pihl, Patricia J Conrod
BACKGROUND: Onset of alcohol use by 14 relative to 21 years of age strongly predicts elevated risk for severe alcohol use problems, with 27% versus 4% of individuals exhibiting alcohol dependence within 10 years of onset. What remains unclear is whether this early alcohol use (i) is a marker for later problems, reflected as a pre-existing developmental predisposition, (ii) causes global neural atrophy or (iii) specifically disturbs neuro-maturational processes implicated in addiction, such as executive functions or reward processing...
December 13, 2016: BMC Psychiatry
https://www.readbyqxmd.com/read/27939640/mutations-in-the-chromatin-regulator-gene-brpf1-cause-syndromic-intellectual-disability-and-deficient-histone-acetylation
#17
Kezhi Yan, Justine Rousseau, Rebecca Okashah Littlejohn, Courtney Kiss, Anna Lehman, Jill A Rosenfeld, Constance T R Stumpel, Alexander P A Stegmann, Laurie Robak, Fernando Scaglia, Thi Tuyet Mai Nguyen, He Fu, Norbert F Ajeawung, Maria Vittoria Camurri, Lin Li, Alice Gardham, Bianca Panis, Mohammed Almannai, Maria J Guillen Sacoto, Berivan Baskin, Claudia Ruivenkamp, Fan Xia, Weimin Bi, Megan T Cho, Thomas P Potjer, Gijs W E Santen, Michael J Parker, Natalie Canham, Margaret McKinnon, Lorraine Potocki, Jennifer J MacKenzie, Elizabeth R Roeder, Philippe M Campeau, Xiang-Jiao Yang
Identification of over 500 epigenetic regulators in humans raises an interesting question regarding how chromatin dysregulation contributes to different diseases. Bromodomain and PHD finger-containing protein 1 (BRPF1) is a multivalent chromatin regulator possessing three histone-binding domains, one non-specific DNA-binding module, and several motifs for interacting with and activating three lysine acetyltransferases. Genetic analyses of fish brpf1 and mouse Brpf1 have uncovered an important role in skeletal, hematopoietic, and brain development, but it remains unclear how BRPF1 is linked to human development and disease...
January 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27928161/novel-kcnb1-mutation-associated-with-non-syndromic-intellectual-disability
#18
Xénia Latypova, Naomichi Matsumoto, Cécile Vinceslas-Muller, Stéphane Bézieau, Bertrand Isidor, Noriko Miyake
Potassium voltage-gated channel subfamily B member 1 (KCNB1) encodes Kv2.1 potassium channel of crucial role in hippocampal neuron excitation homeostasis. KCNB1 mutations are known to cause early-onset infantile epilepsy. To date, 10 KCNB1 mutations have been described in 11 patients. Using whole-exome sequencing, we identified a novel de novo missense (c.1132G>C, p.V378L) KCNB1 mutation in a patient with global developmental delay, intellectual disability, severe speech impairment, but no episode of epilepsy until the lastly examined age of 6 years old...
December 8, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27916860/novel-pigt-variant-in-two-brothers-expansion-of-the-multiple-congenital-anomalies-hypotonia-seizures-syndrome-3-phenotype
#19
Nadia Skauli, Sean Wallace, Samuel C C Chiang, Tuva Barøy, Asbjørn Holmgren, Asbjørg Stray-Pedersen, Yenan T Bryceson, Petter Strømme, Eirik Frengen, Doriana Misceo
Biallelic PIGT variants were previously reported in seven patients from three families with Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 (MCAHS3), characterized by epileptic encephalopathy, hypotonia, global developmental delay/intellectual disability, cerebral and cerebellar atrophy, craniofacial dysmorphisms, and skeletal, ophthalmological, cardiac, and genitourinary abnormalities. We report a novel homozygous PIGT missense variant c.1079G>T (p.Gly360Val) in two brothers with several of the typical features of MCAHS3, but in addition, pyramidal tract neurological signs...
November 29, 2016: Genes
https://www.readbyqxmd.com/read/27913098/succinyl-coa-synthetase-sucla2-deficiency-in-two-siblings-with-impaired-activity-of-other-mitochondrial-oxidative-enzymes-in-skeletal-muscle-without-mitochondrial-dna-depletion
#20
Xiaoping Huang, Jirair K Bedoyan, Didem Demirbas, David J Harris, Alexander Miron, Simone Edelheit, George Grahame, Suzanne D DeBrosse, Lee-Jun Wong, Charles L Hoppel, Douglas S Kerr, Irina Anselm, Gerard T Berry
Mutations in SUCLA2 result in succinyl-CoA ligase (ATP-forming) or succinyl-CoA synthetase (ADP-forming) (A-SCS) deficiency, a mitochondrial tricarboxylic acid cycle disorder. The phenotype associated with this gene defect is largely encephalomyopathy. We describe two siblings compound heterozygous for SUCLA2 mutations, c.985A>G (p.M329V) and c.920C>T (p.A307V), with parents confirmed as carriers of each mutation. We developed a new LC-MS/MS based enzyme assay to demonstrate the decreased SCS activity in the siblings with this unique genotype...
November 12, 2016: Molecular Genetics and Metabolism
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