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https://www.readbyqxmd.com/read/29049388/an-inducible-mouse-model-of-podocin-mutation-related-nephrotic-syndrome
#1
Mansoureh Tabatabaeifar, Tanja Wlodkowski, Ivana Simic, Helga Denc, Geraldine Mollet, Stefanie Weber, John Julius Moyers, Barbara Brühl, Michael Joseph Randles, Rachel Lennon, Corinne Antignac, Franz Schaefer
Mutations in the NPHS2 gene, encoding podocin, cause hereditary nephrotic syndrome. The most common podocin mutation, R138Q, is associated with early disease onset and rapid progression to end-stage renal disease. Knock-in mice carrying a R140Q mutation, the mouse analogue of human R138Q, show developmental arrest of podocytes and lethal renal failure at neonatal age. Here we created a conditional podocin knock-in model named NPHS2 R140Q/-, using a tamoxifen-inducible Cre recombinase, which permits to study the effects of the mutation in postnatal life...
2017: PloS One
https://www.readbyqxmd.com/read/29046917/effects-of-an-injectable-functionalized-self-assembling-nanopeptide-hydrogel-on-angiogenesis-and-neurogenesis-for-regeneration-of-the-central-nervous-system
#2
Tzu-Wei Wang, Kai-Chieh Chang, Liang-Hsin Chen, Shih-Yung Liao, Chia-Wei Yeh, Yung-Jen Chuang
Brain injury is a devastating medical condition and represents a major health problem. Tissue and organ reconstruction have been regarded as promising therapeutic strategies. Here, we propose a regenerative methodology focusing on the provision of functionalized nanopeptide scaffolds to facilitate angiogenesis and neurogenesis at the brain injury site. The peptide RADA16-SVVYGLR undergoes self-assembly to construct an interconnected network with intertwining nanofibers, and can be controlled to display various physicochemical properties by the adjustment of microenvironmental factors such as pH and ion concentration...
October 19, 2017: Nanoscale
https://www.readbyqxmd.com/read/29046359/androgens-trigger-different-growth-responses-in-genetically-identical-human-hair-follicles-in-organ-culture-that-reflect-their-epigenetic-diversity-in-life
#3
Benjamin H Miranda, Matthew R Charlesworth, Desmond J Tobin, David T Sharpe, Valerie A Randall
Male sex hormones-androgens-regulate male physique development. Without androgen signaling, genetic males appear female. During puberty, increasing androgens harness the hair follicle's unique regenerative ability to replace many tiny vellus hairs with larger, darker terminal hairs (e.g., beard). Follicle response is epigenetically varied: some remain unaffected (e.g., eyelashes) or are inhibited, causing balding. How sex steroid hormones alter such developmental processes is unclear, despite high incidences of hormone-driven cancer, hirsutism, and alopecia...
October 18, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29046268/multisite-semiautomated-clinical-data-repository-for-duplication-15q-syndrome-study-protocol-and-early-uses
#4
Oluwaseun Jessica Ajayi, Ebony Jeannae Smith, Teeradache Viangteeravat, Eunice Y Huang, Naga Satya V Rao Nagisetty, Nora Urraca, Laina Lusk, Brenda Finucane, Dimitrios Arkilo, Jennifer Young, Shafali Jeste, Ronald Thibert, Lawrence T Reiter
BACKGROUND: Chromosome 15q11.2-q13.1 duplication syndrome (Dup15q syndrome) is a rare disorder caused by duplications of chromosome 15q11.2-q13.1, resulting in a wide range of developmental disabilities in affected individuals. The Dup15q Alliance is an organization that provides family support and promotes research to improve the quality of life of patients living with Dup15q syndrome. Because of the low prevalence of this condition, the establishment of a single research repository would have been difficult and more time consuming without collaboration across multiple institutions...
October 18, 2017: JMIR Research Protocols
https://www.readbyqxmd.com/read/29046125/pretreatment-with-n-acetyl-cysteine-suppresses-chronic-reactive-astrogliosis-following-maternal-nanoparticle-exposure-during-gestational-period
#5
Atsuto Onoda, Ken Takeda, Masakazu Umezawa
Early pregnant employees are potentially and unintendedly exposed to industrial chemicals including nanoparticles. Developmental toxicity of nanoparticle exposure has been concerned because exposure to fine particle including carbon black nanoparticle (CB-NP) during the brain developmental stage enhances the risk of brain disorders. Maternal CB-NP exposure dose-dependently induces astrogliosis, which is an abnormal increase in the reactive astrocytes with glial fibrillary acidic protein (GFAP) and aquaporin-4 overexpression due to the destruction of nearby neurons and blood vessels...
October 19, 2017: Nanotoxicology
https://www.readbyqxmd.com/read/29045744/developmental-differences-between-schizophrenia-and-bipolar-disorder
#6
Mara Parellada, Sandra Gomez-Vallejo, Monica Burdeus, Celso Arango
Ample evidence supports a neurodevelopmental origin in some cases of schizophrenia (SZ). More inconsistent information is available for bipolar disorder (BD). We herein review studies with a focus on premorbid (adjustment and functionality) and early developmental milestones that include both SZ and BD patients. A search was performed in the PubMed electronic database, retrieving 619 abstracts; 30 were ultimately included in this systematic review. Eight prospective cohorts, 15 retrospective studies, and 7 studies based on national registries...
October 14, 2017: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/29045729/knockout-mice-for-dyslexia-susceptibility-gene-homologs-kiaa0319-and-kiaa0319l-have-unaffected-neuronal-migration-but-display-abnormal-auditory-processing
#7
Luiz G Guidi, Jane Mattley, Isabel Martinez-Garay, Anthony P Monaco, Jennifer F Linden, Antonio Velayos-Baeza, Zoltán Molnár
Developmental dyslexia is a neurodevelopmental disorder that affects reading ability caused by genetic and non-genetic factors. Amongst the susceptibility genes identified to date, KIAA0319 is a prime candidate. RNA-interference experiments in rats suggested its involvement in cortical migration but we could not confirm these findings in Kiaa0319-mutant mice. Given its homologous gene Kiaa0319L (AU040320) has also been proposed to play a role in neuronal migration, we interrogated whether absence of AU040320 alone or together with KIAA0319 affects migration in the developing brain...
October 17, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/29045384/disorder-in-convergent-floral-nanostructures-enhances-signalling-to-bees
#8
Edwige Moyroud, Tobias Wenzel, Rox Middleton, Paula J Rudall, Hannah Banks, Alison Reed, Greg Mellers, Patrick Killoran, M Murphy Westwood, Ullrich Steiner, Silvia Vignolini, Beverley J Glover
Diverse forms of nanoscale architecture generate structural colour and perform signalling functions within and between species. Structural colour is the result of the interference of light from approximately regular periodic structures; some structural disorder is, however, inevitable in biological organisms. Is this disorder functional and subject to evolutionary selection, or is it simply an unavoidable outcome of biological developmental processes? Here we show that disordered nanostructures enable flowers to produce visual signals that are salient to bees...
October 18, 2017: Nature
https://www.readbyqxmd.com/read/29045040/neurexin-gene-family-variants-as-risk-factors-for-autism-spectrum-disorder
#9
Jia Wang, Jianhua Gong, Li Li, Yanlin Chen, Lingfei Liu, HuaiTing Gu, Xiu Luo, Fang Hou, Jiajia Zhang, Ranran Song
Increasing evidence suggests that abnormal synaptic function leads to neuronal developmental disorders and is an important component of the etiology of autism spectrum disorder (ASD). Neurexins are presynaptic cell-adhesion molecules that affect the function of synapses and mediate the conduction of nerve signals. Thus, neurexins are attractive candidate genes for autism. Since gene families have greater power to reveal genetic association than single genes, we designed this case-control study to investigate six genetic variants in three neurexin genes (NRXN1, NRXN2, and NRXN3) in a Chinese population including 529 ASD patients and 1,923 healthy controls...
October 16, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/29044556/the-social-play-social-skills-and-parent-child-relationships-of-children-with-adhd-12%C3%A2-months-following-a-rct-of-a-play-based-intervention
#10
Gabrielle Barnes, Sarah Wilkes-Gillan, Anita Bundy, Reinie Cordier
BACKGROUND/AIM: There is an urgent need to investigate the long-term impact of social skill interventions for children with attention deficit hyperactivity disorder (ADHD). Interventions targeting the social skills of children with ADHD have limited short-term effectiveness and rarely investigate the long-term impact. Furthermore, these interventions are most frequently conducted in the clinic setting, without including the child's natural settings and interactants, such as their regular playmates and parents...
October 18, 2017: Australian Occupational Therapy Journal
https://www.readbyqxmd.com/read/29044497/pediatric-headache-and-sleep-disturbance-a-comparison-of-diagnostic-groups
#11
Jonathan Rabner, Karen J Kaczynski, Laura E Simons, Alyssa LeBel
OBJECTIVE: To examine whether sleep disturbance differs by headache diagnosis in a pediatric sample, and whether this effect remains when other factors affecting sleep are included. BACKGROUND: Primary headache disorders can be severe and disabling, impacting a child's functioning and quality of life. Many children and adolescents with chronic headaches also experience sleep difficulties, and there is likely a bidirectional relationship between headaches and sleep difficulties...
October 17, 2017: Headache
https://www.readbyqxmd.com/read/29043919/beyond-survival-5-year-neurodevelopmental-follow-up-of-a-cohort-of-preterm-infants-in-colombo-sri-lanka
#12
S P Sumanasena, D V Vipulaguna, M M Mendis, N S Gunawardena
BACKGROUND: There is a lack of information on long-term neurodevelopmental outcome in preterm neonates in low- and middle-income countries. OBJECTIVES: To describe the developmental attainments of preterm neonates followed up for 5 years and to identify the risk factors for impairment. METHOD: A prospective descriptive cohort study was undertaken in neonates of 34 weeks gestation born within a period of 12 months at a single tertiary maternity and neonatal unit in Colombo, Sri Lanka...
October 18, 2017: Paediatrics and International Child Health
https://www.readbyqxmd.com/read/29043153/developmental-psychopathology-a-primer-for-clinical-pediatrics
#13
REVIEW
Robert Eme
Developmental psychopathology (DP), broadly defined as the scientific discipline that has as its primary goal the integration of developmental science and psychopathology into a coherent approach to explanatory models for psychopathological development, has become the dominant approach in the past decade for understanding the origins of mental disorders among children and adolescents. Hence, it is incumbent upon those working in the field of clinical pediatrics to have at least a basic understanding of its core principles of DP...
September 22, 2017: World Journal of Psychiatry
https://www.readbyqxmd.com/read/29042781/children-with-borderline-intellectual-functioning-and-autism-spectrum-disorder-developmental-trajectories-from-4-to-11-years-of-age
#14
Martina Barnevik Olsson, Anette Holm, Joakim Westerlund, Åsa Lundholm Hedvall, Christopher Gillberg, Elisabeth Fernell
BACKGROUND: Studies on autism have tended to focus either on those with intellectual disability (ie, those with intellectual quotient [IQ] under 70) or on the group that is referred to as "high-functioning", that is, those with borderline, average or above average IQ. The literature on cognition and daily functioning in autism spectrum disorder combined specifically with borderline intellectual functioning (IQ 70-84) is limited. METHODS: From a representative group of 208 preschool children diagnosed with autism spectrum disorder, those 50 children in the group with borderline intellectual functioning at ages 4...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/29042737/nance-horan-syndrome-a-rare-case-report
#15
Shambhu Sharma, Pankaj Datta, Janak Raj Sabharwal, Sonia Datta
Dentofacial anomalies may guide us to the diagnosis of many congenital and hereditary syndromes. A 9-year-old boy was diagnosed with Nance-Horan syndrome. This syndrome is an extremely rare X-linked genetic disorder which is entirely expressed in males with semi-dominant transmission which results from mutations occurring in male gametes. It is characterized by facial dysmorphism such as long face, prominent nose and mandibular prognathism, ocular abnormalities such as congenital cataract, microcornea, microphthalmia and strabismus, and dental anomalies including mulberry molars and screwdriver-shaped incisors...
July 2017: Contemporary Clinical Dentistry
https://www.readbyqxmd.com/read/29040924/early-social-communication-in-infants-with-fragile-x-syndrome-and-infant-siblings-of-children-with-autism-spectrum-disorder
#16
Laura J Hahn, Nancy C Brady, Lindsay McCary, Lisa Rague, Jane E Roberts
BACKGROUND: Little research in fragile X syndrome (FXS) has prospectively examined early social communication. AIMS: To compare early social communication in infants with FXS, infant siblings of children with autism spectrum disorder (ASIBs), and typically developing (TD) infants. METHODS AND PROCEDURES: Participants were 18 infants with FXS, 21 ASIBs, and 22 TD infants between 7.5-14.5 months. Social communication was coded using the Communication Complexity Scale during the administration of Autism Observation Scale for Infants...
October 14, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29040751/epidenovo-a-platform-for-linking-regulatory-de-novo-mutations-to-developmental-epigenetics-and-diseases
#17
Fengbiao Mao, Qi Liu, Xiaolu Zhao, Haonan Yang, Sen Guo, Luoyuan Xiao, Xianfeng Li, Huajing Teng, Zhongsheng Sun, Yali Dou
De novo mutations (DNMs) have been shown to be a major cause of severe early-onset genetic disorders such as autism spectrum disorder and intellectual disability. Over one million DNMs have been identified in developmental disorders by next generation sequencing, but linking these DNMs to the genes that they impact remains a challenge, as the majority of them are embedded in non-coding regions. As most developmental diseases occur in the early stages of development or during childhood, it is crucial to clarify the details of epigenetic regulation in early development in order to interpret the mechanisms underlying developmental disorders...
October 10, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/29040740/studying-developmental-psychopathology-related-to-psychotic-disorders-challenges-and-paradigms-in-human-studies
#18
Andreas Meyer-Lindenberg
No abstract text is available yet for this article.
October 10, 2017: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/29039978/preimplantation-genetic-testing-current-challenges-and-future-prospects
#19
Anver Kuliev, Svetlana Rechitsky
Preimplantation genetic testing (PGT) is now a widely applied procedure in genetic practices and ART, with more than one third of ART Centers in US already utilizing PGT technology. Its indications have also been significantly extended to include common late-onset disorders and non-genetic conditions, such as testing for HLA match. Areas covered: This is a critical review of the developments in PGT, with emphasis on their outstanding limitations and directions for the future research and practice in the area of PGT...
October 17, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/29039808/a-diagnosis-of-denial-how-mental-health-classification-systems-have-struggled-to-recognise-family-violence-as-a-serious-risk-factor-in-the-development-of-mental-health-issues-for-infants-children-adolescents-and-adults
#20
Wendy Bunston, Candice Franich-Ray, Sara Tatlow
Child and adolescent mental health services (CAMHS) routinely overlook assessing for, and providing treatment to, infants and children living with family violence, despite family violence being declared endemic across the globe. As contemporary neuro-developmental research recognises the harm of being exposed to early relational trauma, key international diagnostic texts such as the DSM-5 and ICD-10 struggle to acknowledge or appreciate the relational complexities inherent in addressing family violence and its impacts during childhood...
October 17, 2017: Brain Sciences
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