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https://www.readbyqxmd.com/read/29353190/characterization-of-acrylamide-induced-oxidative-stress-and-cardiovascular-toxicity-in-zebrafish-embryos
#1
Mengmeng Huang, Jingjing Jiao, Jun Wang, Zhidan Xia, Yu Zhang
Acrylamide (AA) is a high production volume chemical in industrial applications and widely found in baked or fried carbohydrate-rich foods. In this study, we unravelled that AA induced developmental toxicity associated with oxidative stress status and disordered lipid distribution in heart region of developing zebrafish. Treatment with AA caused a deficient cardiovascular system with significant heart malformation and dysfunction. We also found that AA could reduce the number of cardiomyocytes through the reduced capacity of cardiomyocyte proliferation rather than cell apoptosis...
January 8, 2018: Journal of Hazardous Materials
https://www.readbyqxmd.com/read/29353159/trauma-attentional-dysregulation-and-the-development-of-posttraumatic-stress-an-investigation-of-risk-pathways
#2
Judith Schäfer, Ariel Zvielli, Michael Höfler, Hans-Ulrich Wittchen, Amit Bernstein
BACKGROUND: Fundamental questions regarding the nature and function of attentional bias (AB) to threat in the etiology of posttraumatic stress disorder (PTSD) remain unanswered. We tested the temporal interplay between trauma exposure, dysregulated attentional processing of threatening information pre- and post-trauma, and the development of posttraumatic intrusions. METHODS: Response time to trauma-related threat, trauma-unrelated threat, as well as to trauma-related but typically emotionally-neutral stimuli was assessed using the dot probe task before and one week after watching a violent movie scene that served as a trauma analogue...
January 11, 2018: Behaviour Research and Therapy
https://www.readbyqxmd.com/read/29352063/arabidopsis-thaliana-fancd2-promotes-meiotic-crossover-formation
#3
Marie-Therese Kurzbauer, Monica Pradillo, Claudia Kerzendorfer, Jason Sims, Rene Ladurner, Cecilia Oliver, Michael Peter Janisiw, Magdalena Mosiolek, Dieter Schweizer, Gregory P Copenhaver, Peter Schlogelhofer
Fanconi anemia (FA) is a human autosomal recessive disorder characterized by chromosomal instability, developmental pathologies, predisposition to cancer and reduced fertility. So far, nineteen genes have been implicated in FA, most of them involved in DNA repair. Some are conserved across higher eukaryotes, including plants. The Arabidopsis thaliana genome encodes a homologue of the Fanconi anemia D2 gene (FANCD2) whose function in DNA repair is not yet fully understood. Here we provide evidence that AtFANCD2 is required for meiotic homologous recombination...
January 19, 2018: Plant Cell
https://www.readbyqxmd.com/read/29352025/state-of-the-art-and-future-directions-for-extinction-as-a-translational-model-for-fear-and-anxiety
#4
REVIEW
Michelle G Craske, Dirk Hermans, Bram Vervliet
Through advances in both basic and clinical scientific research, Pavlovian fear conditioning and extinction have become an exemplary translational model for understanding and treating anxiety disorders. Discoveries in associative and neurobiological mechanisms underlying extinction have informed techniques for optimizing exposure therapy that enhance the formation of inhibitory associations and their consolidation and retrieval over time and context. Strategies that enhance formation include maximizing prediction-error correction by violating expectancies, deepened extinction, occasional reinforced extinction, attentional control and removal of safety signals/behaviours...
March 19, 2018: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
https://www.readbyqxmd.com/read/29351384/association-with-deviant-peers-across-adolescence-subtypes-developmental-patterns-and-long-term-outcomes
#5
Julia Price, Deborah A G Drabick, Ty A Ridenour
Indices of deviant peer group involvement are inconsistent and confound type, frequency, and severity of deviant peer behaviors. These measurement approaches thus obfuscate potential meaningful differences in deviant peer involvement in terms of subtypes, developmental patterns, and long-term outcomes. The current study employed latent class analysis to derive subtypes of deviant peer involvement and examined relations to substance use disorder in adulthood, a common outcome of deviant peer involvement. Youth (76% Caucasian) completed assessments across four time points: ages 10-12 years (Time 1; N = 775, 71% male), 12-14 years (Time 2; n = 649, 72% male), 16 years (Time 3; n = 613, 73% male), and 22 years (Time 4; n = 425, 71% male)...
January 19, 2018: Journal of Clinical Child and Adolescent Psychology
https://www.readbyqxmd.com/read/29350777/the-pathology-of-lumbosacral-lipomas-macroscopic-and-microscopic-disparity-have-implications-for-embryogenesis-and-mode-of-clinical-deterioration
#6
Victoria Jones, Victoria Wykes, Nicki Cohen, Dominic Thompson, Thomas S Jacques
AIMS: Lumbosacral lipomas (LSL) are congenital disorders of the terminal spinal cord region that have the potential to cause significant spinal cord dysfunction in children. They are of unknown embryogenesis with variable clinical presentation and natural history. It is unclear whether the spinal cord dysfunction reflects a primary developmental dysplasia or whether it occurs secondarily to mechanical traction (spinal cord tethering) with growth. Whilst different anatomical subtypes are recognised and classified according to radiological criteria, these subtypes correlate poorly with clinical prognosis...
January 19, 2018: Histopathology
https://www.readbyqxmd.com/read/29349629/cerebellum-from-development-to-disease-the-8th-international-symposium-of-the-society-for-research-on-the-cerebellum-and-ataxias
#7
EDITORIAL
Hassan Marzban, Mario Manto, Jean Mariani
In recent years, there has been tremendous growth in research on cerebellar motor and non-motor functions. Cerebellum is particularly involved in the spectrum of neurodevelopmental diseases. The 8th International Symposium of the Society for Research on the Cerebellum and Ataxia (SRCA) was held in Winnipeg, Manitoba, (Canada) on May 24-26, 2017. The main theme of the 8th International Symposium was "Development of the Cerebellum and Neurodevelopmental Disorders." Advances in genetics, epigenetic, cerebellar neurogenesis, axonogenesis and gliogenesis, cerebellar developmental disorders including autism spectrum disorders (ASD), neuroimaging, cerebellar ataxias, medulloblastoma, and clinical investigation of cerebellar diseases were presented...
January 18, 2018: Cerebellum
https://www.readbyqxmd.com/read/29349289/mixed-neurodevelopmental-and-neurodegenerative-pathology-in-nhe6-null-mouse-model-of-christianson-syndrome
#8
Meiyu Xu, Qing Ouyang, Jingyi Gong, Matthew F Pescosolido, Brandon S Pruett, Sasmita Mishra, Michael Schmidt, Richard N Jones, Ece D Gamsiz Uzun, Sofia B Lizarraga, Eric M Morrow
Christianson syndrome (CS) is an X-linked disorder resulting from loss-of-function mutations in SLC9A6, which encodes the endosomal Na+/H+ exchanger 6 (NHE6). Symptoms include early developmental delay, seizures, intellectual disability, nonverbal status, autistic features, postnatal microcephaly, and progressive ataxia. Neuronal development is impaired in CS, involving defects in neuronal arborization and synaptogenesis, likely underlying diminished brain growth postnatally. In addition to neurodevelopmental defects, some reports have supported neurodegenerative pathology in CS with age...
November 2017: ENeuro
https://www.readbyqxmd.com/read/29348408/nipbl-haploinsufficiency-reveals-a-constellation-of-transcriptome-disruptions-in-the-pluripotent-and-cardiac-states
#9
Jason A Mills, Pamela S Herrera, Maninder Kaur, Lanfranco Leo, Deborah McEldrew, Jesus A Tintos-Hernandez, Ramakrishnan Rajagopalan, Alyssa Gagne, Zhe Zhang, Xilma R Ortiz-Gonzalez, Ian D Krantz
Cornelia de Lange syndrome (CdLS) is a complex disorder with multiple structural and developmental defects caused by mutations in structural and regulatory proteins involved in the cohesin complex. NIPBL, a cohesin regulatory protein, has been identified as a critical protein responsible for the orchestration of transcriptomic regulatory networks necessary for embryonic development. Mutations in NIPBL are responsible for the majority of cases of CdLS. Through RNA-sequencing of human induced pluripotent stem cells and in vitro-derived cardiomyocytes, we identified hundreds of mRNAs, pseudogenes, and non-coding RNAs with altered expression in NIPBL+/- patient-derived cells...
January 18, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29348039/face-processing-measures-of-social-cognition-a%C3%A2-dimensional-approach-to-developmental-psychopathology
#10
Raquel E Gur, Tyler M Moore, Monica E Calkins, Kosha Ruparel, Ruben C Gur
BACKGROUND: Social cognition impairments in neurodevelopmental disorders impact functioning. Face processing is the most extensively studied aspect of social cognition, commonly indexing this construct in neuropsychiatric disorders compared with typically developing youths. Applying social cognition measures as a Research Domain Criteria concept in the clinical arena requires establishing cutoffs for intervention and identifying vulnerability for psychopathology across disorders. This can be accomplished by comparing extreme performers across multiple clinical symptom features...
September 2017: Biological Psychiatry: Cognitive Neuroscience and Neuroimaging
https://www.readbyqxmd.com/read/29346549/transcriptome-and-functional-analysis-in-a-drosophila-model-of-ngly1-deficiency-provides-insight-into-therapeutic-approaches
#11
Katie G Owings, Joshua B Lowry, Yiling Bi, Matthew Might, Clement Y Chow
Autosomal recessive loss-of-function mutations in N-Glycanase 1 (NGLY1) cause NGLY1 deficiency, the only known human disease of deglycosylation. Patients present with developmental delay, movement disorder, seizures, liver dysfunction, and alacrima. NGLY1 is a conserved cytoplasmic component of the Endoplasmic Reticulum Associated Degradation (ERAD) pathway. ERAD clears misfolded proteins from the ER lumen. However, it is unclear how loss of NGLY1 function impacts ERAD and other cellular processes and results in the constellation of problems associated with NGLY1 deficiency...
January 15, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29345619/mir-9-regulates-basal-ganglia-dependent-developmental-vocal-learning-and-adult-vocal-performance-in-songbirds
#12
Zhimin Shi, Zoe Piccus, Xiaofang Zhang, Huidi Yang, Hannah Jarrell, Yan Ding, Zhaoqian Teng, Ofer Tchernichovski, XiaoChing Li
miR-9 is an evolutionarily conserved miRNA that is abundantly expressed in Area X, a basal ganglia nucleus required for vocal learning in songbirds. Here, we report that overexpression of miR-9 in Area X of juvenile zebra finches impairs developmental vocal learning, resulting in a song with syllable omission, reduced similarity to the tutor song, and altered acoustic features. miR-9 overexpression in juveniles also leads to more variable song performance in adulthood, and abolishes social context-dependent modulation of song variability...
January 18, 2018: ELife
https://www.readbyqxmd.com/read/29345055/npas4-deficiency-interacts-with-adolescent-stress-to-disrupt-prefrontal-gabaergic-maturation-and-adult-cognitive-flexibility
#13
Chloe Page, Jonathan Alexander, Ryan Shepard, Laurence Coutellier
Healthy cognitive and emotional functioning relies on a balance between excitatory and inhibitory neurotransmission in the prefrontal cortex. This balance is largely established during early postnatal and adolescent developmental periods by maturation of the γ-aminobutyric acid (GABA) system, including increased density of parvalbumin cells and perineuronal nets. Genetic and/or environmental factors during adolescence can disrupt GABAergic maturation and lead to behavioral dysfunction in adulthood. The present study examined the interaction between chronic mild stress during adolescence and genetic deficiency of neuronal PAS domain 4 (Npas4), a brain-specific transcription factor that regulates inhibitory neurotransmission and that contributes to adolescent prefrontal GABAergic maturation...
January 18, 2018: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/29344313/dna-methylation-as-a-predictor-of-fetal-alcohol-spectrum-disorder
#14
Alexandre A Lussier, Alexander M Morin, Julia L MacIsaac, Jenny Salmon, Joanne Weinberg, James N Reynolds, Paul Pavlidis, Albert E Chudley, Michael S Kobor
Background: Fetal alcohol spectrum disorder (FASD) is a developmental disorder that manifests through a range of cognitive, adaptive, physiological, and neurobiological deficits resulting from prenatal alcohol exposure. Although the North American prevalence is currently estimated at 2-5%, FASD has proven difficult to identify in the absence of the overt physical features characteristic of fetal alcohol syndrome. As interventions may have the greatest impact at an early age, accurate biomarkers are needed to identify children at risk for FASD...
2018: Clinical Epigenetics
https://www.readbyqxmd.com/read/29344083/psychosocial-problems-in-traumatized-refugee-families-overview-of-risks-and-some-recommendations-for-support-services
#15
EDITORIAL
J M Fegert, C Diehl, B Leyendecker, K Hahlweg, V Prayon-Blum
This article is an abridged version of a report by an advisory council to the German government on the psychosocial problems facing refugee families from war zones who have settled in Germany. It omits the detailed information contained in the report about matters that are specific to the German health system and asylum laws, and includes just those insights and strategies that may be applicable to assisting refugees in other host countries as well. The focus is on understanding the developmental risks faced by refugee children when they or family members are suffering from trauma-related psychological disorders, and on identifying measures that can be taken to address these risks...
2018: Child and Adolescent Psychiatry and Mental Health
https://www.readbyqxmd.com/read/29343805/biallelic-variants-in-kif14-cause-intellectual-disability-with-microcephaly
#16
Periklis Makrythanasis, Reza Maroofian, Asbjørg Stray-Pedersen, Damir Musaev, Maha S Zaki, Iman G Mahmoud, Laila Selim, Amera Elbadawy, Shalini N Jhangiani, Zeynep H Coban Akdemir, Tomasz Gambin, Hanne S Sorte, Arvid Heiberg, Jennifer McEvoy-Venneri, Kiely N James, Valentina Stanley, Denice Belandres, Michel Guipponi, Federico A Santoni, Najmeh Ahangari, Fatemeh Tara, Mohammad Doosti, Justyna Iwaszkiewicz, Vincent Zoete, Paul Hoff Backe, Hanan Hamamy, Joseph G Gleeson, James R Lupski, Ehsan Ghayoor Karimiani, Stylianos E Antonarakis
Kinesin proteins are critical for various cellular functions such as intracellular transport and cell division, and many members of the family have been linked to monogenic disorders and cancer. We report eight individuals with intellectual disability and microcephaly from four unrelated families with parental consanguinity. In the affected individuals of each family, homozygosity for likely pathogenic variants in KIF14 were detected; two loss-of-function (p.Asn83Ilefs*3 and p.Ser1478fs), and two missense substitutions (p...
January 17, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29343804/compound-heterozygous-spata5-variants-in-four-families-and-functional-studies-of-spata5-deficiency
#17
Sanna Puusepp, Reka Kovacs-Nagy, Bader Alhaddad, Matthias Braunisch, Georg F Hoffmann, Urania Kotzaeridou, Lucia Lichvarova, Mailis Liiv, Christine Makowski, Merle Mandel, Thomas Meitinger, Sander Pajusalu, Richard J Rodenburg, Dzhamilja Safiulina, Tim M Strom, Inga Talvik, Annika Vaarmann, Callum Wilson, Allen Kaasik, Tobias B Haack, Katrin Õunap
Variants in the SPATA5 gene were recently described in a cohort of patients with global developmental delay, sensorineural hearing loss, seizures, cortical visual impairment and microcephaly. SPATA5 protein localizes predominantly in the mitochondria and is proposed to be involved in mitochondrial function and brain developmental processes. However no functional studies have been performed. This study describes five patients with psychomotor developmental delay, microcephaly, epilepsy and hearing impairment, who were thought clinically to have a mitochondrial disease with subsequent whole-exome sequencing analysis detecting compound heterozygous variants in the SPATA5 gene...
January 17, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29343237/subtypes-in-clinical-burnout-patients-enrolled-in-an-employee-rehabilitation-program-differences-in-burnout-profiles-depression-and-recovery-resources-stress-balance
#18
Kathrin Bauernhofer, Daniela Bassa, Markus Canazei, Paulino Jiménez, Manuela Paechter, Ilona Papousek, Andreas Fink, Elisabeth M Weiss
BACKGROUND: Burnout is generally perceived a unified disorder with homogeneous symptomatology across people (exhaustion, cynicism, and reduced professional efficacy). However, increasing evidence points to intra-individual patterns of burnout symptoms in non-clinical samples such as students, athletes, healthy, and burned-out employees. Different burnout subtypes might therefore exist. Yet, burnout subtypes based on burnout profiles have hardly been explored in clinical patients, and the samples investigated in previous studies were rather heterogeneous including patients with various physical, psychological, and social limitations, symptoms, and disabilities...
January 17, 2018: BMC Psychiatry
https://www.readbyqxmd.com/read/29343077/delayed-onset-of-sleep-in-adolescents-with-pax6-haploinsufficiency
#19
Alyson E Hanish, Joan C Han
OBJECTIVE: PAX6 haploinsufficiency ( +/-) can occur due to mutations involving only PAX6 in patients with isolated aniridia or as contiguous gene deletions in patients with Wilms tumor, aniridia, genitourinary anomalies, and range of developmental and intellectual disabilities syndrome. Given the role of PAX6 in pineal development and circadian regulation, adolescents with PAX6+/- may experience sleep-wake disturbances. The purpose of this observational study was to explore sleep-related phenotypes in adolescents with PAX6+/-...
January 1, 2018: Biological Research for Nursing
https://www.readbyqxmd.com/read/29342244/gli2-rescues-delays-in-brain-development-induced-by-kif3a-dysfunction
#20
Jia-Long Chen, Chia-Hsiang Chang, Jin-Wu Tsai
The primary cilium in neural stem cells plays distinct roles in different stages during cortical development. Ciliary dysfunctions in human (i.e., ciliopathy) cause developmental defects in multiple organs, including brain developmental delays, which lead to intellectual disabilities and cognitive deficits. However, effective treatment to this devastating developmental disorder is still lacking. Here, we first investigated the effects of ciliopathy on neural stem cells by knocking down Kif3a, a kinesin II motor required for ciliogenesis, in the neurogenic stage of cortical development by in utero electroporation of mouse embryos...
January 12, 2018: Cerebral Cortex
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