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https://www.readbyqxmd.com/read/28822322/caffeine-s-influence-on-gambling-behavior-and-other-types-of-impulsivity
#1
Jon E Grant, Samuel R Chamberlain
BACKGROUND: Young adulthood is a developmental period frequently associated with occurrence of impulsive behaviors including gambling. It is estimated that 73% of children and 87% of adults in the United States regularly use caffeine. Questions remain, however, concerning the role of caffeine in the development and maintenance of impulsive behaviors such as gambling. METHODS: Sixty-one young adults with at least some degree of disordered gambling were recruited from two Mid-Western university communities in the United States using media advertisements...
August 12, 2017: Addictive Behaviors
https://www.readbyqxmd.com/read/28821666/gabaergic-interneuron-differentiation-in-the-basal-forebrain-is-mediated-through-direct-regulation-of-glutamic-acid-decarboxylase-isoforms-by-dlx-homeobox-transcription-factors
#2
Trung N Le, Qing-Ping Zhou, Inma Cobos, Shunzhen Zhang, Jamie Zagozewski, Sara Japoni, Jerry Vriend, Tracie Parkinson, Guoyan Du, John L Rubenstein, David D Eisenstat
γ-amino butyric acid (GABA) is the key inhibitory neurotransmitter in the cortex but regulation of its synthesis during forebrain development is poorly understood. In the telencephalon, members of the distal-less (Dlx) homeobox gene family are expressed in, and regulate the development of, the basal ganglia primodia from which many GABAergic neurons originate and migrate to other forebrain regions. The Dlx1/Dlx2 double knockout mice die at birth with abnormal cortical development, including loss of tangential migration of GABAergic inhibitory interneurons to the neocortex (Anderson et al...
August 8, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28820908/ribosomopathy-like-properties-of-murine-and-human-cancers
#3
Sucheta Kulkarni, James M Dolezal, Huabo Wang, Laura Jackson, Jie Lu, Brian P Frodey, Atinuke Dosunmu-Ogunbi, Youjun Li, Marc Fromherz, Audry Kang, Lucas Santana-Santos, Panayiotis V Benos, Edward V Prochownik
Ribosomopathies comprise a heterogeneous group of hematologic and developmental disorders, often characterized by bone marrow failure, skeletal and other developmental abnormalities and cancer predisposition. They are associated with mutations and/or haplo-insufficiencies of ribosomal proteins (RPs) and inefficient ribosomal RNA (rRNA) processing. The resulting ribosomal stress induces the canonical p19ARF/Mdm2/p53 tumor suppressor pathway leading to proliferative arrest and/or apoptosis. It has been proposed that this pathway is then inactivated during subsequent neoplastic evolution...
2017: PloS One
https://www.readbyqxmd.com/read/28819830/identification-and-characterization-of-tyrosine-kinases-in-anole-lizard-indicate-the-conserved-tyrosine-kinase-repertoire-in-vertebrates
#4
Ake Liu, Funan He, Xun Gu
The tyrosine kinases (TKs) play principal roles in regulation of multicellular aspects of the organism and are implicated in many cancer types and congenital disorders. The anole lizard has recently been introduced as a model organism for laboratory-based studies of organismal function and field studies of ecology and evolution. However, the TK family of anole lizard has not been systematically identified and characterized yet. In this study, we identified 82 TK-encoding genes in the anole lizard genome and classified them into 28 subfamilies through phylogenetic analysis, with no member from ROS and STYK1 subfamilies identified...
August 17, 2017: Molecular Genetics and Genomics: MGG
https://www.readbyqxmd.com/read/28818717/the-effect-of-post-traumatic-stress-disorder-on-the-risk-of-developing-prescription-opioid-use-disorder-results-from-the-national-epidemiologic-survey-on-alcohol-and-related-conditions-iii
#5
Ahmed N Hassan, Bernard Le Foll, Sameer Imtiaz, Jürgen Rehm
OBJECTIVE: To evaluate the effect of baseline post-traumatic stress disorder (PTSD) and each symptoms cluster on the risk of developing opioid use disorder (OUD) in those exposed to opioid painkillers and to assess the effect of comorbid PTSD and OUD on functioning, OUD severity, and treatment seeking compared with individuals with OUD only. METHODS: We obtained data from 4025 individuals exposed to opioid painkillers from the National Epidemiologic Survey on Alcohol and Related Conditions III...
August 8, 2017: Drug and Alcohol Dependence
https://www.readbyqxmd.com/read/28818707/a-biomarker-of-anxiety-in-children-and-adolescents-a-review-focusing-on-the-error-related-negativity-ern-and-anxiety-across-development
#6
REVIEW
Alexandria Meyer
BACKGROUND: Anxiety disorders are the most common form of psychopathology and often begin early in development. Therefore, there is interest in identifying neural biomarkers that characterize pathways leading to anxiety disorders early in the course of development. A substantial amount of work focuses on the error-related negativity (ERN) as a biomarker of anxiety. While two previous reviews have focused on the relationship of the ERN and anxiety in adults, no previous review has focused on this issue in children and adolescents...
August 8, 2017: Developmental Cognitive Neuroscience
https://www.readbyqxmd.com/read/28818477/human-imprinting-disorders-principles-practice-problems-and-progress
#7
REVIEW
Deborah J G Mackay
Epigenetic regulation orchestrates gene expression with exquisite precision, over a huge dynamic range and across developmental space and time, permitting genomically-homogeneous humans to develop and adapt to their surroundings. Every generation, these epigenetic marks are re-set twice: in the germline, to enable differentiation of sperm and eggs, and at fertilisation, to create the totipotent zygote that then begins growth and differentiation into a new human. A small group of genes evades the second, zygotic wave of epigenetic reprogramming, and these genes retain an epigenetic 'imprint' of the parent from whom they were inherited...
August 14, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28818389/common-and-variable-clinical-histological-and-imaging-findings-of-recessive-ryr1-related-centronuclear-myopathy-patients
#8
Osorio Abath Neto, Cristiane de Araújo Martins Moreno, Edoardo Malfatti, Sandra Donkervoort, Johann Böhm, Júlio Brandão Guimarães, A Reghan Foley, Payam Mohassel, Jahannaz Dastgir, Diana Xerxes Bharucha-Goebel, Soledad Monges, Fabiana Lubieniecki, James Collins, Līvija Medne, Mariarita Santi, Sabrina Yum, Brenda Banwell, Emmanuelle Salort-Campana, John Rendu, Julien Fauré, Uluc Yis, Bruno Eymard, Chrystel Cheraud, Raphaël Schneider, Julie Thompson, Xaviere Lornage, Lilia Mesrob, Doris Lechner, Anne Boland, Jean-François Deleuze, Umbertina Conti Reed, Acary Souza Bulle Oliveira, Valérie Biancalana, Norma B Romero, Carsten G Bönnemann, Jocelyn Laporte, Edmar Zanoteli
Mutations in RYR1 give rise to diverse skeletal muscle phenotypes, ranging from classical central core disease to susceptibility to malignant hyperthermia. Next-generation sequencing has recently shown that RYR1 is implicated in a wide variety of additional myopathies, including centronuclear myopathy. In this work, we established an international cohort of 21 patients from 18 families with autosomal recessive RYR1-related centronuclear myopathy, to better define the clinical, imaging, and histological spectrum of this disorder...
May 30, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28818334/the-use-of-acupuncture-in-first-aid-of-burns-clinical-report
#9
A Loskotova, J Loskotova
Burns are a very painful skin injury, or injury of soft tissues. The development of post-traumatic stress disorder can develop, even in those with minor injuries (Ia-IIb degree). Development of problems is very rapid and intense since, according to developmental embryology, the skin and central nervous system (CNS) descend from the same germ layer-ectoderm. This clinical report presents the results acquired from the data of 1008 patients suffering from burns treated by the acupuncture (ACU)-from 1983-2015 in the surgery ward of the hospital in Vysoke Myto in the Czech Republic...
August 14, 2017: Burns: Journal of the International Society for Burn Injuries
https://www.readbyqxmd.com/read/28817803/developmental-dysfunction-of-vip-interneurons-impairs-cortical-circuits
#10
Renata Batista-Brito, Martin Vinck, Katie A Ferguson, Jeremy T Chang, David Laubender, Gyorgy Lur, James M Mossner, Victoria G Hernandez, Charu Ramakrishnan, Karl Deisseroth, Michael J Higley, Jessica A Cardin
GABAergic interneurons play important roles in cortical circuit development. However, there are multiple populations of interneurons and their respective developmental contributions remain poorly explored. Neuregulin 1 (NRG1) and its interneuron-specific receptor ERBB4 are critical genes for interneuron maturation. Using a conditional ErbB4 deletion, we tested the role of vasoactive intestinal peptide (VIP)-expressing interneurons in the postnatal maturation of cortical circuits in vivo. ErbB4 removal from VIP interneurons during development leads to changes in their activity, along with severe dysregulation of cortical temporal organization and state dependence...
August 16, 2017: Neuron
https://www.readbyqxmd.com/read/28817310/semaphorins-and-their-roles-in-airway-biology-potential-as-therapeutic-targets
#11
Hesam Movassagh, Forough Khadem, Abdelilah S Gounni
Semaphorins are a large family of proteins originally identified as axon guidance cues which play a crucial role in neural development. They are also ubiquitously expressed beyond the nervous system and contribute to regulation of essential cell functions such as cell migration, proliferation, and adhesion. Binding of semaphorins to their receptors, including plexins and neuropilins, triggers diverse signaling pathways which are involved in the pathogenesis of various diseases from cancer to autoimmune and allergic disorders...
August 17, 2017: American Journal of Respiratory Cell and Molecular Biology
https://www.readbyqxmd.com/read/28816964/the-rare-axenfeld-rieger-syndrome-with-systemic-anomalies-a-case-report-and-brief-review-of-literature
#12
Wei Song, Xiaodan Hu
RATIONALE: Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder with ocular anterior segment dysgenesis and systemic anomalies. PATIENT CONCERNS: A 28-year-old Chinese Han female was referred to Beijing Tongren Eye Center for progressive decrease of the visual acuity on her right eye in the past month. DIAGNOSES: The patient was diagnosed as ARS with retinal detachment based on series of ophthalmic examinations performed. INTERVENTIONS: A pars plana vitrectomy was performed to manage the retinal detachment...
August 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28816917/factors-associated-with-developmental-behavioral-pediatricians-prescribing-psychotropic-medication-to-children-with-autism-spectrum-disorder-a-study-of-three-dbpnet-sites
#13
Carissa Jackel, Justine Shults, Susan Wiley, Jareen Meinzen-Derr, Marilyn Augustyn, Nathan Blum
OBJECTIVE: Psychotropic medications are frequently prescribed to children with autism spectrum disorder (ASD), but little is known about the prescribing practices of developmental-behavioral pediatricians (DBPs). Our objective was to determine whether clinical site, age, insurance, or comorbidities influenced DBPs prescribing psychotropic medication for children with ASD. METHODS: A retrospective analysis was performed using electronic health record data of all patients with ASD seen at 3 academic developmental-behavioral pediatrics (DBP) clinical programs from January 2010 to December 2011...
August 10, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28816587/dna-methylation-independent-growth-restriction-and-altered-developmental-programming-in-a-mouse-model-of-preconception-male-alcohol-exposure
#14
Richard C Chang, William M Skiles, S Chronister Sarah, Haiqing Wang, Gabrielle I Sutton, Yudhishtar S Bedi, Matthew Snyder, Charles R Long, Michael C Golding
The preconception environment is a significant modifier of dysgenesis and the development of environmentally-induced disease. To date, Fetal Alcohol Spectrum Disorders (FASDs) have been exclusively associated with maternal exposures, yet emerging evidence suggests male-inherited alterations in the developmental program of sperm may be relevant to the growth-restriction phenotypes of this condition. Using a mouse model of voluntary consumption, we find chronic preconception male ethanol exposure associates with fetal growth restriction, decreased placental efficiency, abnormalities in cholesterol trafficking, sex-specific alterations in the genetic pathways regulating hepatic fibrosis, and disruptions in the regulation of imprinted genes...
August 17, 2017: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/28816198/lingual-frenectomy-in-joubert-syndrome
#15
Vivek Gurjar, Minal Gurjar, Channaveer Pattanshetti, Banashree Sankeshwari
AIM: Our aim is to present a case of a rare disorder, such as Joubert syndrome (JS) which required oral surgical intervention under general anesthesia at a very young age to help in achieving normal developmental milestones. BACKGROUND: Ciliopathies are an emerging class of diseases of which JS is a significant member. There have been very few cases of JS with its distinguishing features which have been reported in recent literature. CASE REPORT: We herewith present a case of JS who reported to our unit with a complaint of speech abnormality...
August 1, 2017: Journal of Contemporary Dental Practice
https://www.readbyqxmd.com/read/28816000/investigating-facial-phenotype-in-autism-spectrum-conditions-the-importance-of-a-hypothesis-driven-approach
#16
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/28815955/the-role-of-iqsec2-in-syndromic-intellectual-disability-narrowing-the-diagnostic-odyssey
#17
Benjamin M Helm, Zoe Powis, Carlos E Prada, Olga L Casasbuenas-Alarcon, Tonya Balmakund, G B Schaefer, Stephen G Kahler, Julie Kaylor, Susan Winter, Yuri A Zarate, Samantha A Schrier Vergano
While X-linked intellectual disability (XLID) syndromes pose a diagnostic challenge for clinicians, an increasing number of recognized disorders and their genetic etiologies are providing answers for patients and their families. The availability of clinical exome sequencing is broadening the ability to identify mutations in genes previously unrecognized as causing XLID. In recent years, the IQSEC2 gene, located at Xp11.22, has emerged as the cause of multiple cases of both nonsyndromic and syndromic XLID. Herein we present a case series of six individuals (five males, one female) with intellectual disability and seizures found to have alterations in IQSEC2...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815871/clinical-and-molecular-characterization-of-de-novo-loss-of-function-variants-in-hnrnpu
#18
Magalie S Leduc, Hsiao-Tuan Chao, Chunjing Qu, Magdalena Walkiewicz, Rui Xiao, Pilar Magoulas, Shujuan Pan, Joke Beuten, Weimin He, Jonathan A Bernstein, Christian P Schaaf, Fernando Scaglia, Christine M Eng, Yaping Yang
DNA alterations in the 1q43-q44 region are associated with syndromic neurodevelopmental disorders characterized by global developmental delay, intellectual disability, dysmorphic features, microcephaly, seizures, and agenesis of the corpus callosum. HNRNPU is located within the 1q43-q44 region and mutations in the gene have been reported in patients with early infantile epileptic encephalopathy. Here, we report on the clinical presentation of four patients with de novo heterozygous HNRNPU loss-of-function mutations detected by clinical whole exome sequencing: c...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815563/bone-marrow-failure-syndrome-caused-by-homozygous-frameshift-mutation-in-the-ercc6l2-gene
#19
Tekla Järviaho, Kimmo Halt, Pasi Hirvikoski, Jukka Moilanen, Merja Möttönen, Riitta Niinimäki
Inherited bone marrow failure syndromes (IBMFS) are group of disorders that lead to inadequate production of blood cells. Mutations in genes involved in telomere maintenance, DNA repair, and the cell cycle cause IBMFS. ERCC6L2 gene mutations have been associated with bone marrow failure that includes developmental delay and microcephaly. We report two cases of bone marrow failure with no extra-hematopoietic manifestations in patients from unrelated families with a homozygous truncating mutation in ERCC6L2. Bone marrow failure without developmental delay or microcephaly with ERCC6L2 mutation has not been previously described...
August 16, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28815460/developing-a-system-for-processing-health-data-of-children-using-digitalized-toys-ethical-and-privacy-concerns-for-the-internet-of-things-paradigm
#20
REVIEW
María Luisa Martín-Ruíz, Celia Fernández-Aller, Eloy Portillo, Javier Malagón, Cristina Del Barrio
EDUCERE (Ubiquitous Detection Ecosystem to Care and Early Stimulation for Children with Developmental Disorders) is a government funded research and development project. EDUCERE objectives are to investigate, develop, and evaluate innovative solutions for society to detect changes in psychomotor development through the natural interaction of children with toys and everyday objects, and perform stimulation and early attention activities in real environments such as home and school. In the EDUCERE project, an ethical impact assessment is carried out linked to a minors' data protection rights...
August 16, 2017: Science and Engineering Ethics
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