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Developmental disorders

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https://www.readbyqxmd.com/read/28636935/the-sensory-striatum-is-permanently-impaired-by-transient-developmental-deprivation
#1
Todd M Mowery, Kristina B Penikis, Stephen K Young, Christopher E Ferrer, Vibhakar C Kotak, Dan H Sanes
Corticostriatal circuits play a fundamental role in regulating many behaviors, and their dysfunction is associated with many neurological disorders. In contrast, sensory disorders, like hearing loss (HL), are commonly linked with processing deficits at or below the level of the auditory cortex (ACx). However, HL can be accompanied by non-sensory deficits, such as learning delays, suggesting the involvement of regions downstream of ACx. Here, we show that transient developmental HL differentially affected the ACx and its downstream target, the sensory striatum...
June 20, 2017: Cell Reports
https://www.readbyqxmd.com/read/28635952/yunis-var%C3%A3-n-syndrome-caused-by-biallelic-vac14-mutations
#2
Matthew A Lines, Yoko Ito, Kristin D Kernohan, Wendy Mears, Julie Hurteau-Miller, Sunita Venkateswaran, Leanne Ward, Karine Khatchadourian, Jeff McClintock, Priya Bhola, Philippe M Campeau, Kym M Boycott, Jean Michaud, André Bp van Kuilenburg, Sacha Ferdinandusse, David A Dyment
Yunis-Varón syndrome (YVS) is an autosomal recessive disorder comprising skeletal anomalies, dysmorphism, global developmental delay and intracytoplasmic vacuolation in brain and other tissues. All hitherto-reported pathogenic variants affect FIG4, a lipid phosphatase involved in phosphatidylinositol (3,5)-bisphosphate [PtdIns(3,5)P2] metabolism. FIG4 interacts with PIKfyve, a lipid kinase, via the adapter protein VAC14; all subunits of the resulting complex are essential for PtdIns(3,5)P2 synthesis in the endolysosomal membrane compartment...
June 21, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28635424/genome-wide-linkage-and-haplotype-sharing-analysis-implicates-the-mcdr3-locus-as-a-candidate-region-for-a-developmental-macular-disorder-in-association-with-digit-abnormalities
#3
Valentina Cipriani, Ambreen Kalhoro, Gavin Arno, Raquel S Silva, Nikolas Pontikos, Virginie Puech, Michelle E McClements, David M Hunt, Veronica van Heyningen, Michel Michaelides, Andrew R Webster, Anthony T Moore, Bernard Puech
BACKGROUND: Developmental macular disorders are a heterogeneous group of rare retinal conditions that can cause significant visual impairment from childhood. Among these disorders, autosomal dominant North Carolina macular dystrophy (NCMD) has been mapped to 6q16 (MCDR1) with recent support for a non-coding disease mechanism of PRDM13. A second locus on 5p15-5p13 (MCDR3) has been implicated in a similar phenotype, but the disease-causing mechanism still remains unknown. METHODS: Two families affected by a dominant developmental macular disorder that closely resembles NCMD in association with digit abnormalities were included in the study...
March 2, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28634578/neonatal-venous-thromboembolism
#4
REVIEW
Kristina M Haley
Neonates are the pediatric population at highest risk for development of venous thromboembolism (VTE), and the incidence of VTE in the neonatal population is increasing. This is especially true in the critically ill population. Several large studies indicate that the incidence of neonatal VTE is up almost threefold in the last two decades. Central lines, fluid fluctuations, sepsis, liver dysfunction, and inflammation contribute to the risk profile for VTE development in ill neonates. In addition, the neonatal hemostatic system is different from that of older children and adults...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28634270/making-muscle-skeletal-myogenesis-in-vivo-and-in-vitro
#5
REVIEW
Jérome Chal, Olivier Pourquié
Skeletal muscle is the largest tissue in the body and loss of its function or its regenerative properties results in debilitating musculoskeletal disorders. Understanding the mechanisms that drive skeletal muscle formation will not only help to unravel the molecular basis of skeletal muscle diseases, but also provide a roadmap for recapitulating skeletal myogenesis in vitro from pluripotent stem cells (PSCs). PSCs have become an important tool for probing developmental questions, while differentiated cell types allow the development of novel therapeutic strategies...
June 15, 2017: Development
https://www.readbyqxmd.com/read/28632204/successful-pharmacotherapy-for-the-treatment-of-severe-feeding-aversion-with-mechanistic-insights-from-cross-species-neuronal-remodeling
#6
W G Sharp, A G Allen, K H Stubbs, K K Criado, R Sanders, C E McCracken, R G Parsons, L Scahill, S L Gourley
Pediatric feeding disorders affect up to 5% of children, causing severe food intake problems that can result in serious medical and developmental outcomes. Behavioral intervention (BI) is effective in extinguishing feeding aversions, and also expert-dependent, time/labor-intensive and not well understood at a neurobiological level. Here we first conducted a double-blind, placebo-controlled trial comparing BI with BI plus d-cycloserine (DCS). DCS is a partial N-methyl-d-aspartate (NMDA) receptor agonist shown to augment extinction therapies in multiple anxiety disorders...
June 20, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28632163/melatonin-as-a-novel-interventional-candidate-for-fragile-x-syndrome-with-autism-spectrum-disorder-in-humans
#7
REVIEW
Jinyoung Won, Yunho Jin, Jeonghyun Choi, Sookyoung Park, Tae Ho Lee, Sang-Rae Lee, Kyu-Tae Chang, Yonggeun Hong
Fragile X syndrome (FXS) is the most common monogenic form of autism spectrum disorder (ASD). FXS with ASD results from the loss of fragile X mental retardation (fmr) gene products, including fragile X mental retardation protein (FMRP), which triggers a variety of physiological and behavioral abnormalities. This disorder is also correlated with clock components underlying behavioral circadian rhythms and, thus, a mutation of the fmr gene can result in disturbed sleep patterns and altered circadian rhythms. As a result, FXS with ASD individuals may experience dysregulation of melatonin synthesis and alterations in melatonin-dependent signaling pathways that can impair vigilance, learning, and memory abilities, and may be linked to autistic behaviors such as abnormal anxiety responses...
June 20, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28631972/an-analysis-of-self-the-development-and-assessment-of-a-measure-of-selfobject-needs
#8
Eamonn Arble, Douglas Barnett
Based on the psychoanalysis of adults with borderline and narcissistic personality disorder symptoms, Kohut ( 1971 , 1977, 1980, 1984) formulated a theory of self psychology that emphasized the importance of early developmental experiences; most centrally, the empathic attunement of caregivers as key ingredients for fostering the capacity for healthy self-regulation and interpersonal relations. Kohut elaborated 3 critical selfobject needs (i.e., idealizing, mirroring, and twinship) that were ideally satiated by these early experiences, deeming the fulfillment of these needs as essential for developing a healthy sense of self...
February 21, 2017: Journal of Personality Assessment
https://www.readbyqxmd.com/read/28631016/new-insights-into-cohesin-loading
#9
REVIEW
Ireneusz Litwin, Robert Wysocki
Cohesin is a conserved, ring-shaped protein complex that encircles sister chromatids and ensures correct chromosome segregation during mitosis and meiosis. It also plays a crucial role in the regulation of gene expression, DNA condensation, and DNA repair through both non-homologous end joining and homologous recombination. Cohesins are spatiotemporally regulated by the Scc2-Scc4 complex which facilitates cohesin loading onto chromatin at specific chromosomal sites. Over the last few years, much attention has been paid to cohesin and cohesin loader as it became clear that even minor disruptions of these complexes may lead to developmental disorders and cancers...
June 19, 2017: Current Genetics
https://www.readbyqxmd.com/read/28630819/concerns-about-the-registered-behavior-technician%C3%A2-in-relation-to-effective-autism-intervention
#10
Justin B Leaf, Ronald Leaf, John McEachin, Mitchell Taubman, Tristram Smith, Sandra L Harris, B J Freeman, Toby Mountjoy, Tracee Parker, Todd Streff, Fred R Volkmar, Andi Waks
In 2014, the Behavior Analyst Certification Board (BACB®) initiated a program for credentialing behavior technicians. The new credential, Registered Behavior Technician™ (RBT®), is for providers of behavioral intervention to a wide range of individuals with mental health needs and developmental delays, including individuals diagnosed with autism spectrum disorder (ASD). The RBT® would represent the entry-level position within the range of the BACB® credentials. Despite the increasing acceptance of this newest level of credential from the behavioral community, the authors of this paper have substantial concerns with the RBT® credential as it relates to the delivery of intervention to individuals diagnosed with ASD...
June 2017: Behavior Analysis in Practice
https://www.readbyqxmd.com/read/28630734/open-treatment-of-dysplasia-other-than-pao-does-it-have-to-be-a-pao
#11
REVIEW
Kotaro R Shibata, Shuichi Matsuda, Marc R Safran
Hip dysplasia is a developmental disorder that results in anatomic abnormalities in which the acetabular coverage is insufficient. In the absence of severe degenerative changes, younger active patients with these symptomatic structural abnormalities are increasingly managed with joint-preserving operations. Historically there have been numerous reconstructive pelvic osteotomies. In recent years, the Bernese periacetabular osteotomy (PAO) has become the preferred osteotomy by many surgeons. Even so, as our understanding of the hip advances and new diagnostic and treatment techniques are developed, we sought to put a focus on the long-term results of augmental osteotomies and pelvic osteotomies other than the PAO, to see if any of these surgeries still have a place in the current algorithm of treatment for the dysplastic hip...
July 2017: Journal of Hip Preservation Surgery
https://www.readbyqxmd.com/read/28630661/intrainsular-connectivity-and-somatosensory-responsiveness-in-young-children-with-asd
#12
Michelle D Failla, Brittany R Peters, Haleh Karbasforoushan, Jennifer H Foss-Feig, Kimberly B Schauder, Brynna H Heflin, Carissa J Cascio
BACKGROUND: The human somatosensory system comprises dissociable paths for discriminative and affective touch, reflected in separate peripheral afferent populations and distinct cortical targets. Differences in behavioral and neural responses to affective touch may have an important developmental role in early social experiences, which are relevant for autism spectrum disorder (ASD). METHODS: Using probabilistic tractography, we compared the structural integrity of white matter pathways for discriminative and affective touch in young children with ASD and their typically developing (TD) peers...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28630658/evidence-of-mitochondrial-dysfunction-in-autism-biochemical-links-genetic-based-associations-and-non-energy-related-mechanisms
#13
REVIEW
Keren K Griffiths, Richard J Levy
Autism spectrum disorder (ASD), the fastest growing developmental disability in the United States, represents a group of neurodevelopmental disorders characterized by impaired social interaction and communication as well as restricted and repetitive behavior. The underlying cause of autism is unknown and therapy is currently limited to targeting behavioral abnormalities. Emerging studies suggest a link between mitochondrial dysfunction and ASD. Here, we review the evidence demonstrating this potential connection...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/28630591/notch-signalinio-kelio-ir-ginekologini%C3%A5-piktybini%C3%A5-navik%C3%A5-s%C3%A4-saja
#14
Nadežda Lachej, Daiva Dabkevičienė, Aušra Sasnauskienė, Rūta Marija Trimonytė, Daiva Kanopienė, Birutė Kazbarienė, Janina Didžiapetrienė
Background. The body's cell behaviour is controlled by various signalling pathways, one of which is NOTCH. It has been found that a partial loss of the NOTCH function or abnormal strengthening of NOTCH signalling are related to various human diseases and developmental disorders. Materials and methods. PubMed was the main source of information for this paper. Results. The paper overviews the association between oncologic diseases and the participants of the NOTCH signalling pathway. In cancerogenesis, the NOTCH signalling pathway can act as a tumour suppressor or an oncogene...
2017: Acta medica Lituanica
https://www.readbyqxmd.com/read/28628841/mitochondrial-dysfunction-in-autism-spectrum-disorder-clinical-features-and-perspectives
#15
REVIEW
Fiona Hollis, Alexandros K Kanellopoulos, Claudia Bagni
Autism Spectrum Disorder (ASD) is a prototypic pervasive developmental disorder characterized by social interaction, and communication deficits, repetitive, stereotypic patterns of behavior, and impairments in language and development. Clinical studies have identified mitochondrial disturbances at the levels of DNA, activity, complexes, oxidative stress, and metabolites in blood and urine of ASD patients. However, these observations from postmortem brains or peripheral tissues do not provide a direct link between autism and mitochondria...
June 16, 2017: Current Opinion in Neurobiology
https://www.readbyqxmd.com/read/28628780/brainage-score-indicates-accelerated-brain-aging-in-schizophrenia-but-not-bipolar-disorder
#16
Igor Nenadić, Maren Dietzek, Kerstin Langbein, Heinrich Sauer, Christian Gaser
BrainAGE (brain age gap estimation) is a novel morphometric parameter providing a univariate score derived from multivariate voxel-wise analyses. It uses a machine learning approach and can be used to analyse deviation from physiological developmental or aging-related trajectories. Using structural MRI data and BrainAGE quantification of acceleration or deceleration of in individual aging, we analysed data from 45 schizophrenia patients, 22 bipolar I disorder patients (mostly with previous psychotic symptoms / episodes), and 70 healthy controls...
May 24, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28627366/pqbp1-an-intrinsically-disordered-denatured-protein-at-the-crossroad-of-intellectual-disability-and-neurodegenerative-diseases
#17
REVIEW
Hitoshi Okazawa
PQBP1 (polyglutamine binding protein-1) is the earliest identified molecule among the group of disease-related intrinsically disordered/denatured proteins. PQBP1 interacts with splicing-related factors via the disordered/denatured domain and regulates post-transcriptional gene expression. The mutations cause intellectual disability due to decreased dendritic spines and abnormal expression of synapse molecules in neurons, and microcephaly due to elongated cell cycle time and abnormal expression of cell cycle proteins in neural stem progenitor cells...
June 13, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/28626485/isolation-and-characterization-of-isofraxidin-7-o-6-o-p-coumaroyl-%C3%AE-glucopyranoside-from-artemisia-capillaris-thunberg-a-novel-nontoxic-hyperpigmentation-agent-that-is-effective-in-vivo
#18
Soon-Ho Yim, Nadia Tabassum, Woong-Hee Kim, Haaglim Cho, Ji-Hyung Lee, Galzad J Batkhuu, Hyun Jung Kim, Won Keun Oh, Da-Woon Jung, Darren R Williams
Abnormalities in skin pigmentation can produce disorders such as albinism or melasma. There is a research need to discover novel compounds that safely and effectively regulate pigmentation. To identify novel modulators of pigmentation, we attempted to purify compounds from a bioactive fraction of the Korean medicinal plant Artemisia capillaris Thunberg. The novel compound isofraxidin 7-O-(6'-O-p-coumaroyl)-β-glucopyranoside (compound 1) was isolated and its pigmentation activity was characterized in mammalian melanocytes...
2017: Evidence-based Complementary and Alternative Medicine: ECAM
https://www.readbyqxmd.com/read/28626020/lack-of-effect-of-vitamin-d3-supplementation-in-autism-a-20-week-placebo-controlled-rct
#19
Conor P Kerley, Clare Power, Louise Gallagher, David Coghlan
OBJECTIVES: Data suggest a potential role for vitamin D in autism spectrum disorder (ASD). We wanted to assess the effect of vitamin D3 supplementation compared with placebo in children with ASD. DESIGN: This was a double-blind, randomised, placebo-controlled trial. SETTING: A paediatric outpatient centre at high latitude over the winter season in Dublin, Ireland (53°N). PATIENTS: 42 children with ASD. INTERVENTIONS: 2000 IU vitamin D3 supplementation or placebo daily for 20 weeks...
June 16, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28626003/transcriptional-complexity-and-distinct-expression-patterns-of-auts2-paralogs-in-danio-rerio
#20
Igor Kondrychyn, Lena Robra, Vatsala Thirumalai
Several genes that have been implicated in autism spectrum disorders are large and have multiple transcripts. Neurons are especially enriched with longer transcripts compared to non-neural cell types. The human autism susceptibility candidate 2 (AUTS2) gene is ~1.2 Mb long and is implicated in a number of neurological disorders including autism, intellectual disability, addiction and developmental delay. Recent studies show AUTS2 to be important for activation of transcription of neural specific genes, neuronal migration and neurite outgrowth...
June 16, 2017: G3: Genes—Genomes—Genetics
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