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https://www.readbyqxmd.com/read/29145013/parenting-and-family-adjustment-scales-pafas-validation-of-a-brief-parent-report-measure-for-use-with-families-who-have-a-child-with-a-developmental-disability
#1
Trevor G Mazzucchelli, Julie Hodges, Robert T Kane, Kate Sofronoff, Matthew R Sanders, Stewart Einfeld, Bruce Tonge, Kylie M Gray
BACKGROUND: Children with a developmental disability are three to four times more likely than their typically developing peers of developing significant emotional and behavioural problems. There is strong evidence to suggest that individual biological and psychological factors interact with family functioning to precipitate and perpetuate these problems. AIMS: This study examined the psychometric properties of a brief measure, the Parent and Family Adjustment Scales (PAFAS) for use with parents of children with a developmental disability...
November 13, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29144507/the-fragile-x-mental-retardation-protein-regulates-tumor-invasiveness-related-pathways-in-melanoma-cells
#2
Francesca Zalfa, Vincenzo Panasiti, Simone Carotti, Maria Zingariello, Giuseppe Perrone, Laura Sancillo, Laura Pacini, Flavie Luciani, Vincenzo Roberti, Silvia D'Amico, Rosa Coppola, Simona Osella Abate, Rosa Alba Rana, Anastasia De Luca, Mark Fiers, Valentina Melocchi, Fabrizio Bianchi, Maria Giulia Farace, Tilmann Achsel, Jean-Christophe Marine, Sergio Morini, Claudia Bagni
The fragile X mental retardation protein (FMRP) is lacking or mutated in patients with the fragile X syndrome (FXS), the most frequent form of inherited intellectual disability. FMRP affects metastasis formation in a mouse model for breast cancer. Here we show that FMRP is overexpressed in human melanoma with high Breslow thickness and high Clark level. Furthermore, meta-analysis of the TCGA melanoma data revealed that high levels of FMRP expression correlate significantly with metastatic tumor tissues, risk of relapsing and disease-free survival...
November 16, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/29143763/intellectual-functioning-in-offspring-of-parents-with-bipolar-disorder-a-review-of-the-literature
#3
REVIEW
Bonnie Klimes-Dougan, Jake Jeong, Kevin P Kennedy, Timothy A Allen
Impaired intellectual functioning is an important risk factor for the emergence of severe mental illness. Unlike many other forms of mental disorder however, the association between bipolar disorder and intellectual deficits is unclear. In this narrative review, we examine the current evidence on intellectual functioning in children and adolescents at risk for developing bipolar disorder. The results are based on 18 independent, peer-reviewed publications from 1980 to 2017 that met criteria for this study. The findings yielded no consistent evidence of lower or higher intellectual quotient (IQ) in offspring of parents diagnosed with bipolar disorder...
October 28, 2017: Brain Sciences
https://www.readbyqxmd.com/read/29142771/a-peruvian-child-with-18p-18q-syndrome-and-persistent-microscopic-hematuria
#4
Julio A Poterico, Flor Vásquez, Miguel Chávez-Pastor, Milana Trubnykova, Félix Chavesta, Jenny Chirinos, Nancy Salcedo, Rosmery Mena, Sulema Cubas, Rocío González, Rossana Alvariño, Hugo Abarca-Barriga
Chromosome 18 pericentric inversion carriers could have offspring with recombinant chromosomes, leading to patients with clinical variable manifestations. Patients with 18p-/18q+ rearrangements share some clinical characteristics, while other characteristics differ. Factors for such divergence include the length of the inverted segment, among others. Here, we describe a Peruvian child with dysmorphic features, intellectual disability persistent microscopic hematuria, aortic pseudocoarctation, and descending aorta arteritis, among others...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29142765/duplication-of-19p13-3-in-11-year-old-male-patient-with-dysmorphic-features-and-intellectual-disability-a-review
#5
Irina Novikova, Paushpala Sen, Ann Manzardo, Merlin G Butler
We present a clinical report of an 11-year-old male patient with an interstitial duplication of 19p13.3 (829 kb in size) at genomic coordinates 3,804,495-4,033,722 bp (hg19) identified by chromosomal microarray analysis and review the literature from nine published reports adding knowledge regarding this chromosomal anomaly and clinical outcomes. The size of the duplication ranged from 0.83 to 8.9 Mb in the nine individuals. The young boy in our report was dysmorphic with microcephaly, abnormal craniofacial features, intellectual disability, aggression, and a heart murmur...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29142481/rescue-case-of-low-birth-weight-infant-with-acute-hepatic-failure
#6
Noriki Okada, Yukihiro Sanada, Taizen Urahashi, Yoshiyuki Ihara, Naoya Yamada, Yuta Hirata, Takumi Katano, Kentaro Ushijima, Shinya Otomo, Shujiro Fujita, Koichi Mizuta
We report a case involving a rescued low birth weight infant (LBWI) with acute liver failure. CASE: The patient was 1594 g and 32(3/7) gestational wk at birth. At the age of 11 d, she developed acute liver failure due to gestational alloimmune liver disease. Exchange transfusion and high-dose gamma globulin therapy were initiated, and body weight increased with enteral nutrition. Exchange transfusion was performed a total of 33 times prior to living donor liver transplantation (LDLT)...
October 28, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/29141583/clinical-and-molecular-genetic-characterization-of-familial-mecp2-duplication-syndrome-in-a-chinese-family
#7
Xiaoyan Li, Hua Xie, Qian Chen, Xiongying Yu, Zhaoshi Yi, Erzhen Li, Ting Zhang, Jian Wang, Jianmin Zhong, Xiaoli Chen
BACKGROUND: Chromosomal duplication at the Xq28 region including the MECP2 gene, share consistent clinical phenotypes and a distinct facial phenotype known as MECP2 duplication syndrome. The typical clinical features include infantile hypotonia , mild dysmorphic features, a broad range of neurodevelopmental disorders, recurrent infections, and progressive spasticity. METHODS: This Chinese MECP2 duplication syndrome family includes six patients (five males and one female), and four asymptomatic female carriers...
November 15, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29141312/-clinical-manifestation-and-gene-analyses-of-15-patients-with-intellectual-disability-or-developmental-delay-complicated-with-congenital-nystagmus
#8
Z J Gao, Q Jiang, Q Chen, K M Xu, Z Q Liu, X B Chen, X L Chen
Objective: To analyze the clinical and genetic features of 15 cases with intellectual disability or developmental delay (ID/DD) complicated with congenital nystagmus. Method: The clinical characteristics and the results of laboratory tests, images and genetics of 15 patients with ID/DD complicated with congenital nystagmus, confirmed by gene diagnosis in the Department of Neurology, Children's Hospital Affiliated to Capital Institute of Pediatrics from March 2015 to October 2016, were retrospectively analyzed...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29141250/a-small-supernumerary-marker-derived-from-the-pericentromeric-region-of-chromosome-5-case-report-and-delineation-of-partial-trisomy-5p-phenotype
#9
Letizia Camerota, Mariabernarda Pitzianti, Diana Postorivo, Anna M Nardone, Claudio Ligas, Costanzo Moretti, Augusto Pasini, Francesco Brancati
A 17-year-old girl presented with a distinct phenotype mainly featuring craniofacial dysmorphism, including a disproportioned large, round, elongated face; hypertelorism; deep-set eyes with short palpebral fissures; obesity (BMI 37), and a neuropsychiatric disorder with high-functioning autism. Postnatal conventional cytogenetic analyses from peripheral blood revealed a mosaic small supernumerary marker chromosome (sSMC) with a mos 47,XX,+mar[7]/46,XX[43] karyotype. By cenM-FISH technique, the sSMC was identified as a ring derivative of chromosome 5...
November 16, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29141232/foxp1-promotes-embryonic-neural-stem-cell-differentiation-by-repressing-jagged1-expression
#10
Luca Braccioli, Stephin J Vervoort, Youri Adolfs, Cobi J Heijnen, Onur Basak, R Jeroen Pasterkamp, Cora H Nijboer, Paul J Coffer
Mutations in FOXP1 have been linked to neurodevelopmental disorders including intellectual disability and autism; however, the underlying molecular mechanisms remain ill-defined. Here, we demonstrate with RNA and chromatin immunoprecipitation sequencing that FOXP1 directly regulates genes controlling neurogenesis. We show that FOXP1 is expressed in embryonic neural stem cells (NSCs), and modulation of FOXP1 expression affects both neuron and astrocyte differentiation. Using a murine model of cortical development, FOXP1-knockdown in utero was found to reduce NSC differentiation and migration during corticogenesis...
November 14, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/29141019/exploring-the-relationship-between-video-game-expertise-and-fluid-intelligence
#11
Athanasios V Kokkinakis, Peter I Cowling, Anders Drachen, Alex R Wade
Hundreds of millions of people play intellectually-demanding video games every day. What does individual performance on these games tell us about cognition? Here, we describe two studies that examine the potential link between intelligence and performance in one of the most popular video games genres in the world (Multiplayer Online Battle Arenas: MOBAs). In the first study, we show that performance in the popular MOBA League of Legends' correlates with fluid intelligence as measured under controlled laboratory conditions...
2017: PloS One
https://www.readbyqxmd.com/read/29140588/family-management-of-childhood-chronic-conditions-does-it-make-a-difference-if-the-child-has-an-intellectual-disability
#12
Marcia Van Riper, George J Knafl, Cecelia Roscigno, Kathleen A Knafl
The purpose of this analysis was to assess the applicability of the Family Management Measure (FaMM) to families in which there was a child with an intellectual disability versus a chronic condition. Drawing on data from 571 parents of children with a chronic physical condition and 539 parents of children with Down syndrome, we compared the two groups across the six FaMM scales. After accounting for the covariate effects of race, ethnicity, family income, and child age, we found significant differences in four of the six FaMM scales, with parents of children with Down syndrome reporting a significantly more positive view on the Condition Management Effort and View of Condition Impact scales and a significantly less positive view on the Child's Daily Life and Condition Management Ability scales than parents of children with a chronic physical condition...
November 15, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29140099/oral-healthcare-for-persons-with-intellectual-or-developmental-disabilities-why-is-there-a-disparity
#13
Michael Milano
Despite some progress, a significant disparity still exists in oral healthcare between individuals with intellectual or developmental disabilities and the general population. Barriers generated by finances, a lack of appropriately trained dental providers, and the patients themselves combine to create significant challenges to providing dental care. However, strategies exist that can help to decrease the magnitude of these hurdles so this disparity can be minimized.
November 2017: Compendium of Continuing Education in Dentistry
https://www.readbyqxmd.com/read/29137556/all-cause-30-day-readmissions-among-persons-with-intellectual-and-developmental-disabilities-and-mental-illness
#14
Robert Balogh, Elizabeth Lin, Kristin Dobranowski, Avra Selick, Andrew S Wilton, Yona Lunsky
OBJECTIVE: Early hospital readmissions within 30 days of discharge are common and costly. This research describes predictors of all-cause, 30-day hospital readmissions among persons with intellectual and developmental disabilities (IDD), a group known to experience high rates of hospitalization. METHODS: A cohort of 66,484 adults with IDD from Ontario, Canada, was used to create two subgroups: individuals with IDD only and those with IDD and mental illness. The rates of hospital readmission were determined and contrasted with a comparison subgroup of people without IDD who have mental illness...
November 15, 2017: Psychiatric Services: a Journal of the American Psychiatric Association
https://www.readbyqxmd.com/read/29136542/cognition-and-behaviour-in-children-with-congenital-abdominal-wall-defects
#15
Alice C Burnett, Julia K Gunn, Esther A Hutchinson, Margaret M Moran, Lisa M Kelly, Ursula C Sevil, Peter J Anderson, Rod W Hunt
AIM: To characterise neurodevelopment at age two years and cognition and behaviour at age five years in children born with abdominal wall defects (gastroschisis or exomphalos). STUDY DESIGN: Participants were treated as neonates for gastroschisis or exomphalos and invited for routine clinical follow-up at ages two and five years. Thirty-nine two year-olds and 20 five year-olds with gastroschisis and 20 two year-olds and 10 five year-olds with exomphalos returned for age-appropriate assessments of development (two years) and intellectual functioning (IQ), executive function, and behavioural problems...
November 11, 2017: Early Human Development
https://www.readbyqxmd.com/read/29136354/-minimal-holoprosencephaly-in-a-14q-deletion-syndrome-patient
#16
Elvio Della Giustina, Alessandro Iodice, Carlotta Spagnoli, Simona Giovannini, Daniele Frattini, Carlo Fusco, Giuseppe Gobbi, Marcella Zollino, Giovanni Neri
We report on a patient with terminal deletion of the long arm of chromosome 14 displaying brain interhemispheric fusion limited to the midline anterior frontal cortex associated with hypoplastic corpus callosum and incomplete rotation of the left hippocampus in a clinical setting of motor and intellectual disability with poor language, and social behavior abnormalities with aggressiveness. Some possible correlations between clinical signs and symptoms and various aspects of the complex brain malformation are briefly discussed and compared with other known abnormalities of chromosome 14...
December 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29135674/the-pursuit-of-scholarship-why-we-should-care-about-resident-research
#17
Joan E Bechtold, Benjamin R Williams, Stuart L Weinstein, David W Polly, Andrew J Pugely, Joseph A Buckwalter, Stephen A Albanese, Kevin J Bozic, Brian D Snyder
Research is a foundational component of an orthopaedic residency. It fosters intellectual curiosity and pursuit of excellence, while teaching discipline and the scientific method. These are the key principles for careers in both community-based practice and academia. Currently, no consensus exists on how to best engage residents and support their research endeavors. In 2014, the American Academy of Orthopaedic Surgeons Board of Specialty Societies Research and Quality Committee convened a Clinician-Scientist Collaboration Workgroup...
November 15, 2017: Journal of Bone and Joint Surgery. American Volume
https://www.readbyqxmd.com/read/29135430/impact-of-a-fieldwork-experience-on-attitudes-toward-people-with-intellectual-disabilities
#18
Allison Sullivan, Rochelle Mendonca
OBJECTIVE: The objective of this study was to describe the effects of curriculum activities on changing attitudes of health professional students toward people with intellectual disabilities (IDs). METHOD: A nonrandomized, pretest-posttest design was used. Participants were college students assigned to one of three groups: two groups of students from different years in the occupational therapy program and one group of public health students. Each group completed the Attitudes Toward Intellectual Disabilities Questionnaire before and after each intervention...
November 2017: American Journal of Occupational Therapy: Official Publication of the American Occupational Therapy Association
https://www.readbyqxmd.com/read/29134438/a-concept-analysis-of-spiritual-health
#19
Akram Sadat Sadat Hoseini, Naghmeh Razaghi, Abdul Hosein Khosro Panah, Nahid Dehghan Nayeri
Spiritual health is an important dimension of health and forms part of a comprehensive care. This study was conducted to redefine and clarify the components of spiritual health based on different worldviews through Walker and Avant's concept analysis method. Being given a life and a soul and having beliefs are the antecedents of spiritual health. The attributes of this concept include a morality-oriented intellectual connectedness with the self, others, and the universe guided by a connection with the Transcendent and Superior being in order to create meaning in life and find its purpose in the context of culture and religion; transcendence is ultimately the consequence of spiritual heath...
November 13, 2017: Journal of Religion and Health
https://www.readbyqxmd.com/read/29133852/nitrosynapsin-therapy-for-a-mouse-mef2c-haploinsufficiency-model-of-human-autism
#20
Shichun Tu, Mohd Waseem Akhtar, Rosa Maria Escorihuela, Alejandro Amador-Arjona, Vivek Swarup, James Parker, Jeffrey D Zaremba, Timothy Holland, Neha Bansal, Daniel R Holohan, Kevin Lopez, Scott D Ryan, Shing Fai Chan, Li Yan, Xiaofei Zhang, Xiayu Huang, Abdullah Sultan, Scott R McKercher, Rajesh Ambasudhan, Huaxi Xu, Yuqiang Wang, Daniel H Geschwind, Amanda J Roberts, Alexey V Terskikh, Robert A Rissman, Eliezer Masliah, Stuart A Lipton, Nobuki Nakanishi
Transcription factor MEF2C regulates multiple genes linked to autism spectrum disorder (ASD), and human MEF2C haploinsufficiency results in ASD, intellectual disability, and epilepsy. However, molecular mechanisms underlying MEF2C haploinsufficiency syndrome remain poorly understood. Here we report that Mef2c (+/-)(Mef2c-het) mice exhibit behavioral deficits resembling those of human patients. Gene expression analyses on brains from these mice show changes in genes associated with neurogenesis, synapse formation, and neuronal cell death...
November 14, 2017: Nature Communications
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