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1.
Behav Anal Pract ; 15(2): 475-484, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35692527

RESUMO

One common best practice recommendation for teaching receptive labels to individuals diagnosed with autism spectrum disorder is for the stimulus array to be arranged outside of the view of the learner. Another strategy that may have benefits would be to arrange the stimuli in view of the learner. The purpose of this study was to compare the relative effectiveness and efficiency of arranging the stimulus array in view versus out of view of the learner when teaching receptive labels to three children diagnosed with autism spectrum disorder. The results of an adapted alternating-treatments design demonstrated that both conditions were effective, and all participants reached the mastery criterion on all training sets. However, the in-view condition was more, or equally, efficient with respect to sessions to mastery when compared to the out-of-view condition. The results are discussed with respect to clinical and research implications for best practice recommendations related to teaching receptive language.

2.
Guillaume Butler-Laporte; Gundula Povysil; Jack A Kosmicki; Elizabeth T Cirulli; Theodore Drivas; Simone Furini; Chadi Saad; Axel Schmidt; Pawel Olszewski; Urszula Korotko; Mathieu Quinodoz; Elifnaz Celik; Kousik Kundu; Klaudia Walter; Junghyung Jung; Amy D Stockwell; Laura G Sloofman; Daniel M Jordan; Ryan C Thompson; Diane Del Valle Del Valle; Nicole Simons Simons; Esther Cheng Cheng; Robert Sebra Sebra; Eric E Schadt; Seunghee Schulze-Kim Shulze-Kim; Sacha Gnjatic Gnjatic; Miriam Merad Merad; Joseph D Buxbaum; Noam D Beckmann; Alexander W Charney; Bartlomiej Przychodzen; Timothy Chang; Tess D Pottinger; Ning Shang; Fabian Brand; Francesca Fava; Francesca Mari; Karolina Chwialkowska; Magdalena Niemira; Szymon Pula; J Kenneth Baillie; Alex Stuckey; Antonio Salas; Xabier Bello; Jacobo Pardo-Seco; Alberto Gomez-Carballa; Irene Rivero-Calle; Federico Martinon-Torres; Andrea Ganna; Konrad J Karczewski; Kumar Veerapen; Mathieu Bourgey; Guillaume Bourque; Robert JM Eveleigh; Vincenzo Forgetta; David Morrison; David Langlais; Mark Lathrop; Vincent Mooser; Tomoko Nakanishi; Robert Frithiof; Michael Hultstrom; Miklos Lipcsey; Yanara Marincevic-Zuniga; Jessica Nordlund; Kelly M Schiabor Barrett; William Lee; Alexandre Bolze; Simon White; Stephen Riffle; Francisco Tanudjaja; Efren Sandoval; Iva Neveux; Shaun Dabe; Nicolas Casadei; Susanne Motameny; Manal Alaamery; Salam Massadeh; Nora Aljawini; Mansour S Almutairi; Yaseen M Arab; Saleh A Alqahtan; Fawz S Al Harthi; Amal Almutairi; Fatima Alqubaishi; Sarah Alotaibi; Albandari Binowayn; Ebtehal A Alsolm; Hadeel El Bardisy; Mohammad Fawzy; - COVID-19 Host Genetics Initiative; - DeCOI Host Genetics Group; - GEN-COVID Multicenter Study (Italy); - Mount Sinai Clinical Intelligence Center; - GEN-COVID consortium (Spain); - GenOMICC Consortium; - Japan COVID-19 Task Force; - Regeneron Genetics Center; Daniel H Geschwind; Stephanie Arteaga; Alexis Stephens; Manish J Butte; Paul C Boutros; Takafumi N Yamaguchi; Shu Tao; Stefan Eng; Timothy Sanders; Paul J Tung; Michael E Broudy; Yu Pan; Alfredo Gonzalez; Nikhil Chavan; Ruth Johnson; Bogdan Pasaniuc; Brian Yaspan; Sandra Smieszek; Carlo Rivolta; Stephanie Bibert; Pierre-Yves Bochud; Maciej Dabrowski; Pawel Zawadzki; Mateusz Sypniewski; Elzbieta Kaja; Pajaree Chariyavilaskul; Voraphoj Nilaratanakul; Nattiya Hirankarn; Vorasuk Shotelersuk; Monnat Pongpanich; Chureerat Phokaew; Wanna Chetruengchai; Katsuhi Tokunaga; Masaya Sugiyama; Yosuke Kawai; Takanori Hasegawa; Tatsuhiko Naito; Ho Namkoong; Ryuya Edahiro; Akinori Kimura; Seishi Ogawa; Takanori Kanai; Koichi Fukunaga; Yukinori Okada; Seiya Imoto; Satoru Miyano; Serghei Mangul; Malak S Abedalthagafi; Hugo Zeberg; Joseph J Grzymski; Nicole L Washington; Stephan Ossowski; Kerstin U Ludwig; Eva C Schulte; Olaf Riess; Marcin Moniuszko; Miroslaw Kwasniewski; Hamdi Mbarek; Said I Ismail; Anurag Verma; David B Goldstein; Krzysztof Kiryluk; Alessandra Renieri; Manuel AR Ferreira; J Brent Richards.
Preprint em Inglês | medRxiv | ID: ppmedrxiv-22273040

RESUMO

Host genetics is a key determinant of COVID-19 outcomes. Previously, the COVID-19 Host Genetics Initiative genome-wide association study used common variants to identify multiple loci associated with COVID-19 outcomes. However, variants with the largest impact on COVID-19 outcomes are expected to be rare in the population. Hence, studying rare variants may provide additional insights into disease susceptibility and pathogenesis, thereby informing therapeutics development. Here, we combined whole-exome and whole-genome sequencing from 21 cohorts across 12 countries and performed rare variant exome-wide burden analyses for COVID-19 outcomes. In an analysis of 5,085 severe disease cases and 571,737 controls, we observed that carrying a rare deleterious variant in the SARS-CoV-2 sensor toll-like receptor TLR7 (on chromosome X) was associated with a 5.3-fold increase in severe disease (95% CI: 2.75-10.05, p=5.41x10-7). This association was consistent across sexes. These results further support TLR7 as a genetic determinant of severe disease and suggest that larger studies on rare variants influencing COVID-19 outcomes could provide additional insights. Author SummaryCOVID-19 clinical outcomes vary immensely, but a patients genetic make-up is an important determinant of how they will fare against the virus. While many genetic variants commonly found in the populations were previously found to be contributing to more severe disease by the COVID-19 Host Genetics Initiative, it isnt clear if more rare variants found in less individuals could also play a role. This is important because genetic variants with the largest impact on COVID-19 severity are expected to be rarely found in the population, and these rare variants require different technologies to be studies (usually whole-exome or whole-genome sequencing). Here, we combined sequencing results from 21 cohorts across 12 countries to perform a rare variant association study. In an analysis comprising 5,085 participants with severe COVID-19 and 571,737 controls, we found that the gene for toll-like receptor 7 (TLR7) on chromosome X was an important determinant of severe COVID-19. Importantly, despite being found on a sex chromosome, this observation was consistent across both sexes.

3.
Am J Intellect Dev Disabil ; 121(6): 501-519, 2016 11.
Artigo em Inglês | MEDLINE | ID: mdl-27802105

RESUMO

This study implemented a modified teaching interaction procedure to teach social skills to 4 children diagnosed with autism spectrum disorder with an intellectual disability. A multiple baseline design across social skills and replicated across participants was utilized to evaluate the effects of the modified teaching interaction procedure. The results demonstrated that the teaching interaction procedure resulted in all participants acquiring targeted social skills, maintaining the targeted social skills, and generalizing the targeted social skills.


Assuntos
Transtorno Autístico/complicações , Transtorno Autístico/reabilitação , Deficiência Intelectual/complicações , Deficiência Intelectual/reabilitação , Habilidades Sociais , Ensino , Adolescente , Criança , Humanos , Relações Interpessoais , Masculino , Desempenho de Papéis
4.
Metabolism ; 51(11): 1410-7, 2002 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-12404190

RESUMO

Thirty healthy postmenopausal women were randomized into 2 groups that received a sequential combined hormone-replacement therapy (HRT) (n = 18; conjugated equine estrogen 0.625 mg/d for 28 days and 5 mg of medroxyprogesterone acetate during the last 14 days) or placebo (n = 12). Plasma samples were collected before and during treatment (days 0, 15, 43, 71). High-density lipoprotein (HDL) lipid content, lipoprotein (Lp)A-I and LpA-I:LpA-II concentration, lecithin:cholesterol acyl transferase activity (LCAT), phospholipid transfer protein (PLTP) activity, and the plasma capacity to carry out cholesterol efflux from Fu5AH cells were measured. Most significant changes were found within the first 15 days after HRT. After 71 days of HRT, we found an increase in LpA-I lipoparticles (27%) and the following HDL lipids: phospholipids (21%), triglycerides (45%), and free cholesterol (43%), as well as an increase in cholesterol efflux (12.5%). PLTP activity, on the other hand, decreased 21% after 71 days of treatment. No significant changes in LCAT activity, HDL-cholesterol ester or LpA-I:LpA-II particles were found. Positive correlation between cholesterol efflux and the variables LpA-I and HDL-phospholipids were observed. PLTP was negatively correlated with apolipoprotein (apo) A-I, LpA-I, and LpA-I:LpA-II. In summary, our study, performed during 3 hormonal cycles, shows that HRT not only modifies HDL-cholesterol level, but also its lipid composition and HDL lipoparticle distribution. HRT enhances the plasma capacity to carry out cholesterol efflux from the Fu5AH system and decreases the activity of PLTP, a key protein regulating HDL levels. Considering the protocol sampling, these results represent mainly the estrogenic effect of HRT.


Assuntos
HDL-Colesterol/sangue , Terapia de Reposição de Estrogênios/métodos , Estrogênios Conjugados (USP)/administração & dosagem , Medroxiprogesterona/administração & dosagem , Pós-Menopausa/sangue , Método Duplo-Cego , Esquema de Medicação , Feminino , Humanos , Lipídeos/sangue , Pessoa de Meia-Idade
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