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https://www.readbyqxmd.com/read/28737216/does-developmental-regression-in-autism-spectrum-disorder-have-biological-origins
#1
Jeremy R Parr
No abstract text is available yet for this article.
July 24, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28737203/pain-insensitivity-in-a-child-with-a-de-novo-interstitial-deletion-of-the-long-arm-of-the-chromosome-4-case-report
#2
Marco Cascella, María Rosaria Muzio
Terminal and interstitial deletions of the distal segment of the long arm of chromosome 4 (Cr4q del) are not common genetic disorders. The severity of the phenotype is correlated with the size of the deletion because small deletions have little clinical impact, whereas large deletions are usually associated with multiple congenital anomalies, postnatal growth failure, and moderate to severe intellectual disability. Alteration in pain tolerance has not been included among these features, also in case of large deletions...
June 2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28736755/risky-decision-making-in-neurofibromatosis-type-1-an-exploratory-study
#3
Rachel K Jonas, EunJi Roh, Caroline A Montojo, Laura A Pacheco, Tena Rosser, Alcino J Silva, Carrie E Bearden
BACKGROUND: Neurofibromatosis type 1 (NF1) is a monogenic disorder affecting cognitive function. About one third of children with NF1 have attentional disorders, and the cognitive phenotype is characterized by impairment in prefrontally-mediated functions. Mouse models of NF1 show irregularities in GABA release and striatal dopamine metabolism. We hypothesized that youth with NF1 would show abnormal behavior and neural activity on a task of risk-taking reliant on prefrontal-striatal circuits...
March 2017: Biological Psychiatry: Cognitive Neuroscience and Neuroimaging
https://www.readbyqxmd.com/read/28736618/a-15q14-microdeletion-involving-meis2-identified-in-a-patient-with-autism-spectrum-disorder
#4
Keiko Shimojima, Yumiko Ondo, Nobuhiko Okamoto, Toshiyuki Yamamoto
We describe a 9-year-old male patient with a 15q14 microdeletion including MEIS2. The patient was born with a ventricular septal defect and submucosal cleft. Mild developmental disability and autism spectrum disorder diagnosed in childhood were also considered to be consequences of MEIS2 haploinsufficiency. The relatively mild developmental delay and lack of additional phenotypic features in this patient indicate that only MEIS2 plays an important role in the observed phenotypic features in the heterozygous state...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28736116/central-nervous-system-anomalies-in-craniofacial-microsomia-a-systematic-review
#5
REVIEW
R W Renkema, C J J M Caron, E B Wolvius, D J Dunaway, C R Forrest, B L Padwa, M J Koudstaal
Extracraniofacial anomalies, including central nervous system (CNS) anomalies, may occur in craniofacial microsomia (CFM). This systematic review was performed to provide an overview of the literature on the prevalence and types of CNS anomalies and developmental disorders in CFM, in order to improve the recognition and possible treatment of these anomalies. A systematic search was conducted and data on the number of patients, patient characteristics, type and prevalence of CNS anomalies or developmental delay, and correlations between CFM and CNS anomalies were extracted...
July 20, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28735879/why-contagious-yawning-does-not-yet-equate-to-empathy
#6
REVIEW
Jorg J M Massen, Andrew C Gallup
Various studies and researchers have proposed a link between contagious yawning and empathy, yet the conceptual basis for the proposed connection is not clear and deserves critical evaluation. Therefore, we systematically examined the available empirical evidence addressing this association; i.e., a critical review of studies on inter-individual differences in contagion and self-reported values of empathy, differences in contagion based on familiarity or sex, and differences in contagion among individuals with psychological disorders, as well as developmental research, and brain imaging and neurophysiological studies...
July 20, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28735706/amniotic-fluid-transcriptomics-reflects-novel-disease-mechanisms-in-fetuses-with-myelomeningocele
#7
Tomo Tarui, Aimee Kim, Alan Flake, Lauren Mcclain, John Stratigis, Inbar Fried, Rebecca Newman, Donna K Slonim, Diana W Bianchi
BACKGROUND: Cell-free (cf) RNA in amniotic fluid supernatant (AFS) reflects developmental changes in gene expression in the living fetus, including genes specific to the central nervous system (CNS). Although it has been previously shown that CNS-specific transcripts are present in AFS, it is not known whether changes in the AFS transcriptome reflect the specific pathophysiology of fetal CNS disorders. In myelomeningocele, there is open communication between the CNS and amniotic fluid...
July 20, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28734548/ubiquitin-like-modifications-in-the-dna-damage-response
#8
REVIEW
Zhifeng Wang, Wei-Guo Zhu, Xingzhi Xu
Genomic DNA is damaged at an extremely high frequency by both endogenous and environmental factors. An improper response to DNA damage can lead to genome instability, accelerate the aging process and ultimately cause various human diseases, including cancers and neurodegenerative disorders. The mechanisms that underlie the cellular DNA damage response (DDR) are complex and are regulated at many levels, including at the level of post-translational modification (PTM). Since the discovery of ubiquitin in 1975 and ubiquitylation as a form of PTM in the early 1980s, a number of ubiquitin-like modifiers (UBLs) have been identified, including small ubiquitin-like modifiers (SUMOs), neural precursor cell expressed, developmentally down-regulated 8 (NEDD8), interferon-stimulated gene 15 (ISG15), human leukocyte antigen (HLA)-F adjacent transcript 10 (FAT10), ubiquitin-fold modifier 1 (UFRM1), URM1 ubiquitin-related modifier-1 (URM1), autophagy-related protein 12 (ATG12), autophagy-related protein 8 (ATG8), fan ubiquitin-like protein 1 (FUB1) and histone mono-ubiquitylation 1 (HUB1)...
July 11, 2017: Mutation Research
https://www.readbyqxmd.com/read/28734460/affected-anatomical-rich-club-and-structural-functional-coupling-in-young-offspring-of-schizophrenia-and-bipolar-disorder-patients
#9
Guusje Collin, Lianne H Scholtens, René S Kahn, Manon H J Hillegers, Martijn P van den Heuvel
BACKGROUND: Emerging evidence suggests disruptions in the wiring organization of the brain's network in schizophrenia (SZ) and bipolar disorder (BD). As the importance of genetic predisposition has been firmly established in these illnesses, children (offspring) of patients constitute an at-risk population. This study examines connectome organization in children at familial high risk for psychosis. METHODS: Diffusion-weighted magnetic resonance imaging scans were collected from 127 nonpsychotic offspring 8 to 18 years of age (average age = 13...
June 21, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/28734240/decreased-levels-of-serum-fibroblast-growth-factor-2-in-children-with-autism-spectrum-disorder
#10
Erman Esnafoglu, Sema Nur Ayyıldız
The neurodevelopment and functioning of the central nervous system, and especially the cerebral cortex, have basic importance to understand neuropsychiatric disorders like autism. Fibroblast growth factor-2 (FGF-2) plays a very important role in the development and functioning of the cortex. FGF-2 is related to developmental processes in the central nervous system such as neurogenesis, migration, differentiation and survival. This study researched the serum FGF-2 levels in children with autism spectrum disorder (ASD)...
July 14, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28734091/prediction-of-alcohol-use-disorder-using-personality-disorder-traits-a-twin-study
#11
Tom Rosenström, Fartein Ask Torvik, Eivind Ystrom, Nikolai Olavi Czajkowski, Nathan A Gillespie, Steven H Aggen, Robert F Krueger, Kenneth S Kendler, Ted Reichborn-Kjennerud
BACKGROUND AND AIMS: The DSM-IV Personality Disorders (PDs) are comorbid with Alcohol Use Disorder (AUD) and with each other. It remains unclear which PD criteria are most likely to drive onset and recurrence of AUD and which are merely confounded with those criteria. We determine which individual PD criteria predict AUD and the degree of underlying genetic and/or environmental etiology. DESIGN: A prospective observational twin study. SETTING: Norway 1999-2011...
July 22, 2017: Addiction
https://www.readbyqxmd.com/read/28733979/novel-clinical-and-molecular-findings-in-spanish-patients-with-nevoid-basal-cell-carcinoma-syndrome
#12
N Alonso, J Cañueto, S Ciria, E Bueno, I Palacios-Alvarez, M Alegre, C Badenas, A Barreiro, L Pena, C Maldonado, M V Nespeira-Jato, C Peña-Penabad, A Azon, M Gavrilova, I Ferrer, O Sanmartin, L Robles, A Hernandez, M Urioste, S Puig, L Puig, R Gonzalez-Sarmiento
Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an autosomal dominant disorder characterised by developmental alterations and multiple basal cell carcinomas. Mutations in PTCH1, a membrane receptor for Sonic Hedgehog, are associated with the development of the disease. Most of them produce a truncated protein which is unable to supress Smoothened protein and continuously activates the downstream pathway OBJECTIVES: We aimed to characterize 22 unrelated Spanish subjects with NBCCS, the largest cohort of Gorlin syndrome reported to date in Spain METHODS AND RESULTS: We reported for the first time two young patients with uterus didelphys and ganglioneuroma, within the context of NBCCS...
July 22, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28733914/molecular-and-functional-analysis-of-monoclonal-antibodies-in-support-of-biologics-development
#13
REVIEW
Xin Wang, Zhiqiang An, Wenxin Luo, Ningshao Xia, Qinjian Zhao
Monoclonal antibody (mAb)-based therapeutics are playing an increasingly important role in the treatment or prevention of many important diseases such as cancers, autoimmune disorders, and infectious diseases. Multi-domain mAbs are far more complex than small molecule drugs with intrinsic heterogeneities. The critical quality attributes of a given mAb, including structure, post-translational modifications, and functions at biomolecular and cellular levels, need to be defined and profiled in details during the developmental phases of a biologics...
July 21, 2017: Protein & Cell
https://www.readbyqxmd.com/read/28733714/a-developmental-perspective-in-mental-health-services-use-among-adults-with-mental-disorders
#14
Christophe Huỳnh, Jean Caron, Marilou Pelletier, Aihua Liu, Marie-Josée Fleury
This study examined factors associated with mental health services (MHS) use by individuals with mental disorders within a developmental perspective of adulthood. Bivariate and multivariate analyses were conducted separately for each developmental stage on independent variables using the Andersen's behavioral health service model. For 18-29-year-old emerging adults (n = 141), autonomy, daily life/relations, Internet searching, alcohol dependence, cognitive impulsiveness, number of stressful events, and self-harm were associated with MHS use...
July 21, 2017: Journal of Behavioral Health Services & Research
https://www.readbyqxmd.com/read/28732770/pharmacologic-modeling-of-primary-mitochondrial-respiratory-chain-dysfunction-in-zebrafish
#15
James Byrnes, Rebecca Ganetzky, Richard Lightfoot, Michael Tzeng, Eiko Nakamaru-Ogiso, Christoph Seiler, Marni J Falk
Mitochondrial respiratory chain (RC) disease is a heterogeneous and highly morbid group of energy deficiency disorders for which no proven effective therapies exist. Robust vertebrate animal models of primary RC dysfunction are needed to explore the effects of variation in RC disease subtypes, tissue-specific manifestations, and major pathogenic factors contributing to each disorder, as well as their pre-clinical response to therapeutic candidates. We have developed a series of zebrafish (Danio rerio) models that inhibit, to variable degrees, distinct aspects of RC function, and enable quantification of animal development, survival, behaviors, and organ-level treatment effects on function as well as mitochondrial biochemistry and physiology...
July 18, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/28732597/pattern-of-gene-expression-in-different-stages-of-schizophrenia-down-regulation-of-nptx2-gene-revealed-by-a-meta-analysis-of-microarray-datasets
#16
Mirko Manchia, Ignazio S Piras, Matthew J Huentelman, Federica Pinna, Clement C Zai, James L Kennedy, Bernardo Carpiniello
Schizophrenia (SCZ) is a severe psychiatric disorder with a genetic susceptibility. Alterations in neurochemical signaling, as well as changes in brain structure and function, manifest during the course of SCZ and are likely causative of the symptoms shown by affected individuals. However, little is known about the timing of these changes, particularly in the pre-morbid and prodromal phases of SCZ. Here, we performed a gene-based and pathway-based meta-analysis of 5 microarray datasets from human induced pluripotent stem cells (hiPSCs)-derived neurons and post-mortem brain tissue from SCZ and healthy controls (HC), with the underlying assumption they might represent the neurobiological make-up of SCZ in the pre-morbid and chronic stages of illness, respectively...
July 18, 2017: European Neuropsychopharmacology: the Journal of the European College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28731336/triple-reuptake-inhibitors-as-potential-therapeutics-for-depression-and-other-disorders-design-paradigm-and-developmental-challenges
#17
Murugaiah A M Subbaiah
Although first-line antidepressants offer therapeutic benefit, about 35% of depressed patients are not adequately treated, creating a large unmet medical need. These medicines mostly enhance the synaptic levels of serotonin and/or norepinephrine. Evidence from preclinical and clinical studies implicate dopamine hypofunction in the pathophysiology of depression. Triple reuptake inhibitors (TRIs), which elevate dopamine in addition to serotonin and norepinephrine, may demonstrate greater efficacy, with the reversal of anhedonia and improved tolerability...
July 21, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28730936/an-industry-update-what-is-the-latest-news-in-therapeutic-delivery
#18
Iain Simpson
This Industry Update covers the period from 1 through 30 April 2017, and is based on information sourced from company press releases, scientific literature, patents and various news websites. Biogen expanded its portfolio of developmental drugs targeting neurological diseases by licensing a drug from Bristol-Myers Squibb which is currently under investigation for the treatment of progressive supranuclear palsy. Takeda announced a deal with NuBiyota focused on developing treatments for gastrointestinal disorders, based on the manipulation of microbes living in the gut...
July 2017: Therapeutic Delivery
https://www.readbyqxmd.com/read/28730904/occupational-therapists-awareness-of-guidelines-for-assessment-and-diagnosis-of-developmental-coordination-disorder-mesure-selon-laquelle-les-ergoth%C3%A3-rapeutes-connaissent-les-lignes-directrices-relatives-%C3%A3-l-%C3%A3-valuation-et-au-diagnostic-du-trouble-du-d%C3%A3-veloppement
#19
Morgan Karkling, Alissa Paul, Jill G Zwicker
BACKGROUND: Developmental coordination disorder (DCD) is a motor skills disorder that can have negative lifelong psychosocial impacts if not diagnosed. Occupational therapists have a role in facilitating a diagnosis for children with DCD through assessment. PURPOSE: The purpose of this study was to determine the level of understanding of current DCD guidelines for assessment and diagnosis among occupational therapists working in paediatric settings in British Columbia, Canada...
June 2017: Canadian Journal of Occupational Therapy. Revue Canadienne D'ergothérapie
https://www.readbyqxmd.com/read/28730897/intervention-and-management-of-developmental-coordination-disorder-are-we-providing-evidence-based-services-intervention-et-traitement-d-un-trouble-du-d%C3%A3-veloppement-de-la-coordination-les-ergoth%C3%A3-rapeutes-fournissent-ils-des-services-fond%C3%A3-s-sur-les-faits
#20
Renée Withers, Yoyo Tsang, Jill G Zwicker
BACKGROUND: Occupational therapists are well positioned to provide intervention to improve outcomes for children with developmental coordination disorder. However, little is known about what occupational therapy services are provided for these children. PURPOSE: As part of a larger study exploring service provision for children with developmental coordination disorder, the purpose of this study was to examine intervention and referral practices of occupational therapists in British Columbia, Canada...
June 2017: Canadian Journal of Occupational Therapy. Revue Canadienne D'ergothérapie
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