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https://www.readbyqxmd.com/read/28651213/reward-related-frontostriatal-activity-and-smoking-behavior-among-adolescents-in-treatment-for-smoking-cessation
#1
Kathleen A Garrison, Sarah W Yip, Iris M Balodis, Kathleen M Carroll, Marc N Potenza, Suchitra Krishnan-Sarin
BACKGROUND: Tobacco use is often initiated during adolescence and continued into adulthood despite desires to quit. A better understanding of the neural correlates of abstinence from smoking in adolescents may inform more effective smoking cessation interventions. Neural reward systems are implicated in tobacco use disorder, and adolescent smokers have shown reduced reward-related ventral striatal activation related to increased smoking. METHODS: The current study evaluated nondrug reward anticipation in adolescent smokers using a monetary incentive delay task in fMRI pre- and post- smoking cessation treatment (n=14)...
June 3, 2017: Drug and Alcohol Dependence
https://www.readbyqxmd.com/read/28650250/a-retrospective-longitudinal-claims-based-comparison-of-concomitant-diagnoses-between-individuals-with-and-without-down-syndrome
#2
Amanda M Kong, Dana Hurley, Kristin A Evans, Diana Brixner, Csilla Csoboth, Jeannie Visootsak
BACKGROUND: Individuals with Down syndrome (DS) experience various comorbidities in excess of the prevalence seen among the non-DS population. However, the extent of the excess burden of comorbidities specifically within commercially and publicly insured DS populations aged < 21 years is not currently known. OBJECTIVES: To (a) describe the most common diagnoses among individuals with DS who have either commercial or Medicaid insurance and (b) compare the prevalence of those diagnoses between DS cases and non-DS controls...
July 2017: Journal of Managed Care & Specialty Pharmacy
https://www.readbyqxmd.com/read/28650219/interrogating-cell-division-errors-using-random-and-chromosome-specific-missegregation-approaches
#3
Peter Ly, Don W Cleveland
Accurate segregation of the duplicated genome in mitosis is essential for maintaining genetic stability. Errors in this process can cause numerical and/or structural chromosome abnormalities - hallmark genomic features commonly associated with both tumorigenesis and developmental disorders. A cell-based approach was recently developed permitting inducible missegregation of the human Y chromosome by selectively disrupting kinetochore assembly onto the Y centromere. Although this strategy initially requires several steps of genetic manipulation, it is easy to use, highly efficient and specific for the Y without affecting the autosomes or the X, and does not require cell cycle synchronization or mitotic perturbation...
June 26, 2017: Cell Cycle
https://www.readbyqxmd.com/read/28650077/considerations-on-the-assessment-of-developmental-coordination-disorder-and-the-elaboration-of-related-contextual-pathways
#4
Matthias Wagner
No abstract text is available yet for this article.
June 26, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28649997/characterizing-sleep-spindles-in-11-630-individuals-from-the-national-sleep-research-resource
#5
S M Purcell, D S Manoach, C Demanuele, B E Cade, S Mariani, R Cox, G Panagiotaropoulou, R Saxena, J Q Pan, J W Smoller, S Redline, R Stickgold
Sleep spindles are characteristic electroencephalogram (EEG) signatures of stage 2 non-rapid eye movement sleep. Implicated in sleep regulation and cognitive functioning, spindles may represent heritable biomarkers of neuropsychiatric disease. Here we characterize spindles in 11,630 individuals aged 4 to 97 years, as a prelude to future genetic studies. Spindle properties are highly reliable but exhibit distinct developmental trajectories. Across the night, we observe complex patterns of age- and frequency-dependent dynamics, including signatures of circadian modulation...
June 26, 2017: Nature Communications
https://www.readbyqxmd.com/read/28649782/heterozygous-variants-in-actl6a-encoding-a-component-of-the-baf-complex-are-associated-with-intellectual-disability
#6
Ronit Marom, Mahim Jain, Lindsay C Burrage, I-Wen Song, Brett H Graham, Chester W Brown, Servi J C Stevens, Alexander P A Stegmann, Andrew T Gunter, Julie D Kaplan, Ralitza H Gavrilova, Marwan Shinawi, Jill A Rosenfeld, Yangjin Bae, Alyssa A Tran, Yuqing Chen, James T Lu, Richard A Gibbs, Christine Eng, Yaping Yang, Justine Rousseau, Bert B A de Vries, Philippe M Campeau, Brendan Lee
Pathogenic variants in genes encoding components of the BAF chromatin remodeling complex have been associated with intellectual disability syndromes. We identified heterozygous, novel variants in ACTL6A, a gene encoding a component of the BAF complex, in three subjects with varying degrees of intellectual disability. Two subjects have missense variants affecting highly conserved amino acid residues within the actin-like domain. Missense mutations in the homologous region in yeast actin were previously reported to be dominant lethal and were associated with impaired binding of the human ACTL6A to β-actin and BRG1...
June 25, 2017: Human Mutation
https://www.readbyqxmd.com/read/28649742/genotranscriptomic-meta-analysis-of-the-chd-family-chromatin-remodelers-in-human-cancers-initial-evidence-of-an-oncogenic-role-for-chd7
#7
Xiaofang Chu, Xuhui Guo, Yuanyuan Jiang, Huimei Yu, Lanxin Liu, Wenqi Shan, Zeng-Quan Yang
Chromodomain helicase DNA binding proteins (CHD) are characterized by N-terminal tandem chromodomains and a central ATP-dependent helicase domain. CHDs govern the cellular machinery's access to DNA, thereby playing critical roles in various cellular processes including transcription, proliferation, and DNA damage repair. Accumulating evidence demonstrates that mutation and dysregulation of CHDs are implicated in the pathogenesis of developmental disorders and cancer. However, we know little about genomic and transcriptomic alterations and the clinical significance of most CHDs in human cancer...
June 26, 2017: Molecular Oncology
https://www.readbyqxmd.com/read/28649445/variable-phenotype-expression-in-a-family-segregating-microdeletions-of-the-nrxn1-and-mbd5-autism-spectrum-disorder-susceptibility-genes
#8
Marc Woodbury-Smith, Rob Nicolson, Mehdi Zarrei, Ryan K C Yuen, Susan Walker, Jennifer Howe, Mohammed Uddin, Ny Hoang, Janet A Buchanan, Christina Chrysler, Ann Thompson, Peter Szatmari, Stephen W Scherer
Autism Spectrum Disorder (ASD) is a developmental condition of early childhood onset, which impacts socio-communicative functioning and is principally genetic in etiology. Currently, more than 50 genomic loci are deemed to be associated with susceptibility to ASD, showing de novo and inherited unbalanced copy number variants (CNVs) and smaller insertions and deletions (indels), more complex structural variants (SVs), as well as single nucleotide variants (SNVs) deemed of pathological significance. However, the phenotypes associated with many of these genes are variable, and penetrance is largely unelaborated in clinical descriptions...
May 3, 2017: NPJ Genomic Medicine
https://www.readbyqxmd.com/read/28649369/recent-advances-in-understanding-contextual-tgf%C3%AE-signaling
#9
REVIEW
Arshad Ayyaz, Liliana Attisano, Jeffrey L Wrana
The appearance of the first animal species on earth coincides with the emergence of transforming growth factor β (TGFβ) pathways. The evolution of these animals into more complex organisms coincides with a progressively increased TGFβ repertoire through gene duplications and divergence, making secreted TGFβ molecules the largest family of morphogenetic proteins in humans. It is therefore not surprising that TGFβ pathways govern numerous aspects of human biology from early embryonic development to regeneration, hematopoiesis, neurogenesis, and immunity...
2017: F1000Research
https://www.readbyqxmd.com/read/28648504/disorders-of-thyroid-morphogenesis
#10
REVIEW
Rasha Abu-Khudir, Stéphanie Larrivée-Vanier, Jonathan D Wasserman, Johnny Deladoëy
Developmental anomalies of the thyroid gland, defined as thyroid dysgenesis, underlie the majority of cases of congenital hypothyroidism. Thyroid dysgenesis is predominantly a sporadic disorder although a reported familial enrichment, variation of incidence by ethnicity and the monogenic defects associated mainly with athyreosis or orthotopic thyroid hypoplasia, suggest a genetic contribution. Of note, the most common developmental anomaly, thyroid ectopy, remains unexplained. Ectopy may result from multiple genetic or epigenetic variants in the germline and/or at the somatic level...
March 2017: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28647021/reprint-of-minimizing-noise-in-pediatric-task-based-functional-mri-adolescents-with-developmental-disabilities-and-typical-development
#11
Catherine Fassbender, Prerona Mukherjee, Julie B Schweitzer
Functional Magnetic Resonance Imaging (fMRI) represents a powerful tool with which to examine brain functioning and development in typically developing pediatric groups as well as children and adolescents with clinical disorders. However, fMRI data can be highly susceptible to misinterpretation due to the effects of excessive levels of noise, often related to head motion. Imaging children, especially with developmental disorders, requires extra considerations related to hyperactivity, anxiety and the ability to perform and maintain attention to the fMRI paradigm...
July 1, 2017: NeuroImage
https://www.readbyqxmd.com/read/28646791/disorganised-schizotypy-is-selectively-associated-with-poorer-semantic-processing-in-non-clinical-individuals
#12
Eric Josiah Tan, Susan Lee Rossell
The nature and severity of semantic memory (SM) impairments in schizophrenia has been related to symptoms, mainly formal thought disorder (FTD), and other clinical factors like length of illness. Symptom-related studies in schizophrenia are often confounded by clinical factors, for example medication and hospitalisations. We completed a schizotypy analogue study to examine the relationship between SM processing and FTD using an analogue schizotypy score referred to as cognitive disorganisation. Sixty individuals without a history of mental illness (M=22...
June 20, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28646354/associations-between-race-and-eating-disorder-symptom-trajectories-in-black-and-white-girls
#13
Lindsay P Bodell, Jennifer E Wildes, Yu Cheng, Andrea B Goldschmidt, Kate Keenan, Alison E Hipwell, Stephanie D Stepp
Epidemiological research suggests racial differences in the presentation of eating disorder symptoms. However, no studies have examined associations between race and eating disorder symptom trajectories across youth and adolescence, which is necessary to inform culturally sensitive prevention programs. The purpose of the current study was to examine the trajectories of eating disorder symptoms from childhood to young adulthood and to examine whether race was associated with trajectory group membership. Data were drawn from 2,305 Black and White girls who participated in a community-based longitudinal cohort study (Pittsburgh Girls Study) examining the development of psychopathology...
June 23, 2017: Journal of Abnormal Child Psychology
https://www.readbyqxmd.com/read/28645892/meis1-effects-on-motor-phenotypes-and-the-sensorimotor-system-in-mice
#14
Aaro V Salminen, Lillian Garrett, Barbara Schormair, Jan Rozman, Florian Giesert, Kristina M Niedermeier, Lore Becker, Birgit Rathkolb, Ildikó Rácz, Martin Klingenspor, Thomas Klopstock, Eckhard Wolf, Andreas Zimmer, Valérie Gailus-Durner, Miguel Torres, Helmut Fuchs, Martin Hrabě de Angelis, Wolfgang Wurst, Sabine M Hölter, Juliane Winkelmann
MEIS1 is a developmental transcription factor linked to restless legs syndrome (RLS) in genome-wide association studies. RLS is a movement disorder leading to severe sleep reduction and with significant impact on the quality-of-life of patients. In genome-wide association studies, MEIS1 has consistently been the gene with the highest effect size and functional studies suggest a disease-relevant downregulation. Therefore, haploinsufficiency of Meis1 could be the most potential system for modeling RLS in animals...
June 23, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28645799/genotype-phenotype-evaluation-of-med13l-defects-in-the-light-of-a-novel-truncating-and-a-recurrent-missense-mutation
#15
Reza Asadollahi, Markus Zweier, Laura Gogoll, Raphael Schiffmann, Heinrich Sticht, Katharina Steindl, Anita Rauch
A decade after the designation of MED13L as a gene and its link to intellectual disability (ID) and dextro-looped transposition of great arteries in 2003, we previously described a recognizable syndrome due to MED13L haploinsufficiency. Subsequent reports of 22 further patients diagnosed by genome-wide testing further delineated the syndrome with expansion of the phenotypic spectrum and showed reduced penetrance for congenital heart defects. We now report two novel patients identified by whole exome sequencing, one with a de novo MED13L truncating mutation and the other with a de novo missense mutation...
June 20, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28645779/schizophrenia-and-neurogenesis-a-stem-cell-approach
#16
REVIEW
Angela Iannitelli, Adele Quartini, Paola Tirassa, Giuseppe Bersani
Several recent research findings indicate that schizophrenia (SCZ) may begin with an abnormal neuro-genesis from embryonic Neural Stem Cells (NSCs) and that this process may be particularly vulnerable to a number of genetic and/or environmental disturbances of early brain development. Since it is now well known that neurogenesis is not confined to the womb, but is a protracted process continuing in postnatal life well into adolescence and beyond, and since in the majority of subjects diagnosed with SCZ the first psychotic break occurs in late adolescence or early adulthood, the aim of our paper is to summarize the main findings supporting a possible link between changes in developmental postnatal neurogenesis and SCZ, with a specific focus on the critical period of adolescence and associated environmental risk factors...
June 20, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28644430/the-clinical-landscape-for-sma-in-a-new-therapeutic-era
#17
REVIEW
K Talbot, E F Tizzano
Despite significant advances in basic research, the treatment of degenerative diseases of the nervous system remains one of the greatest challenges for translational medicine. The childhood onset motor neuron disorder spinal muscular atrophy (SMA) has been viewed as one of the more tractable targets for molecular therapy, due to a detailed understanding of the molecular genetic basis of the disease. In SMA, inactivating mutations in the SMN1 gene can be partially compensated for by limited expression of SMN protein from a variable number of copies of the SMN2 gene, which provides both a molecular explanation for phenotypic severity and a target for therapy...
June 23, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28643166/structural-disorder-in-plant-proteins-where-plasticity-meets-sessility
#18
REVIEW
Alejandra A Covarrubias, Cesar L Cuevas-Velazquez, Paulette S Romero-Pérez, David F Rendón-Luna, Caspar C C Chater
Plants are sessile organisms. This intriguing nature provokes the question of how they survive despite the continual perturbations caused by their constantly changing environment. The large amount of knowledge accumulated to date demonstrates the fascinating dynamic and plastic mechanisms, which underpin the diverse strategies selected in plants in response to the fluctuating environment. This phenotypic plasticity requires an efficient integration of external cues to their growth and developmental programs that can only be achieved through the dynamic and interactive coordination of various signaling networks...
June 22, 2017: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/28642720/depressive-symptomatology-among-norwegian-adolescent-boys-and-girls-the-patient-health-questionnaire-9-phq-9-psychometric-properties-and-correlates
#19
Jasmina Burdzovic Andreas, Geir S Brunborg
This study explored the potential contribution of the Diagnostic and Statistical Manual for Mental Disorders (DSM-IV)-based Patient Health Questionnaire-9 item (PHQ-9) instrument to the developmental epidemiology research in Norway, by examining depressive symptoms in a school sample of adolescents (N = 846). The average PHQ-9 scores were 6.89 (SD = 5.13) for girls, and 4.57 (SD = 3.98) for boys; 8.5% of girls and 2.6% of boys were classified into the originally proposed categories indicative of Major Depressive Disorder (MDD; PHQ-9 scores ≥ 15)...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28641949/reduced-protein-expressions-of-cytomembrane-gabaar%C3%AE-3-at-different-postnatal-developmental-stages-of-rats-exposed-prenatally-to-valproic-acid
#20
Yixin Li, Yang Zhou, Li Peng, Yong Zhao
Decreased inhibition plays an extremely important role in pathogenesis of autism spectrum disorder (ASD). Therefore, we aimed to determine whether expression levels of the γ-aminobutyric acid type A receptor β3 subunit (GABAARβ3), K(+)-Cl(-) cotransporter 2 (KCC2), and Na(+)-K(+)-Cl(-) cotransporter 1 (NKCC1) related to inhibition transmission are changed in a sodium valproate-induced rat model of ASD. Decreased expression levels of membrane GABAARβ3 (m-GABAARβ3) and KCC2 as well as increased endocytosis of GABAARs were found in the model group...
June 19, 2017: Brain Research
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