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Studies on atypical phonological development are very limited for Arabic, and to date no studies on Arabic have investigated the development of phonology in children with conditions such as Down Syndrome. Arabic, like other Semitic languages, is rich in consonants and consonantal variation. However, it differs greatly from region to region, and so reports on individual dialects or regional dialects are necessary. Kuwaiti Arabic, the focus of the present paper, is similar to other dialects in the Gulf region.
This is a preliminary study to examine the phonological development of school-aged Kuwaiti Arabic-speaking children with Down Syndrome in order to start to address the research gap noted above.
Six Kuwaiti Arabic-speaking children were recruited for this pilot study from integrated public schools where children with disabilities and typically developing children are enrolled in the State of Kuwait three male and three female students, age range of 5;10-12;3 years. All participants had the same singl preliminary information for clinicians regarding the speech or children with Down Syndrome (DS), not only in Kuwait but also in the Gulf region where there are similarities to Kuwaiti Arabic.
This pilot study provides preliminary information for clinicians regarding the speech or children with Down Syndrome (DS), not only in Kuwait but also in the Gulf region where there are similarities to Kuwaiti Arabic.
Children adopted from Eastern Europe were assessed at ages 6 to 7 years and results were compared to the same children when they were 8 years. Patterns of relative strengths and weaknesses in language, verbal memory and literacy were analyzed. Variables that predicted reading and writing were determined.
Children adopted from Eastern Europe between 1;0 and 4;11 years of age were assessed at ages 6 to 7 years and age 8 years on a variety of tests that measured language, verbal memory and literacy. Results were compared across ages, and language, verbal memory and literacy domains.
Group means for all measures fell within the average range at both ages. The children's scores were not significantly different from test norms except for measures of rapid naming and number repetition. However, a larger than expected percentage of children scored -1SD below the mean on decontextualized measures of verbal working memory and reading fluency. At age 8 years 24% of children received speech language therapy serviceeflecting the children's enriched adopted home environments. In-depth knowledge of vocabulary was the best predictor of reading and writing. Some aspects of working memory were a strength but others were not. Rapid naming was also a weakness.Transcription factor small mothers against decapentaplegic (Smad) family SMAD proteins are the essential intracellular signal mediators and transcription factors for transforming growth factor β (TGF-β) signal transduction pathway, which usually exert pleiotropic actions on cell physiology, including immune response, cell migration and differentiation. In this study, the Smad family was identified in the most primitive vertebrates through the investigation of the transcriptome data of lampreys. Pirinixic manufacturer The topology of phylogenetic tree showed that the four Smads (Smad1, Smad3, Smad4 and Smad6) in lampreys were subdivided into four different groups. Meanwhile, homology analysis indicated that most Smads were conserved with typical Mad Homology (MH) 1 and MH2 domains. In addition, Lethenteron reissneri Smads (Lr-Smads) adopted general Smads folding structure and had high tertiary structural similarity with human Smads (H-Smads). Genomic synteny analysis revealed that the large-scale duplication blocks were not found in lamprey genome and neighbor genes of lamprey Smads presented dramatic differences compared with jawed vertebrates. Importantly, quantitative real-time PCR analysis demonstrated that Smads were widely expressed in lamprey, and the expression level of Lr-Smads mRNA was up-regulated with different pathogenic stimulations. Moreover, depending on the weighted gene co-expression network analysis (WGCNA), four Lr-Smads were identified as two meaningful modules (green and gray). The functional analysis of these two modules showed that they might have a correlation with ployIC. And these genes presented strong positive correlation during the immune response from the results of Pearson's correlation analysis. In conclusion, our results would not only enrich the information of Smad family in jawless vertebrates, but also lay the foundation for immunity in further study.Renal Cell Carcinoma (RCC) is on the top 10 of the most incident cancers worldwide, being a third of patients diagnosed with advanced disease, for which no curative therapies are currently available. Thus, new effective therapeutic strategies are urgently needed. Herein, we tested the antineoplastic effect of newly synthesized 3-nitroflavanones (MLo1302) on RCC cell lines. 786-O, Caki2, and ACHN cell lines were cultured and treated with newly synthesized 3-nitroflavanones. IC50 values were calculated based on the effect on cell viability assessed by MTT assay, after 72 h of exposure. MLo1302 displayed antineoplastic properties in RCC cell lines through marked reduction of cell viability, increased apoptosis and DNA damage, and morphometric alterations indicating a less aggressive phenotype. MLo1302 induced a significant reduction of global DNA methylation and DNMT mRNA levels, increasing global DNA hydroxymethylation and TET expression. Moreover, MLo1302 decreased DNMT3A activity in RCC cell lines, demethylated and re-expressed hypermethylated genes in CAM-generated tumors. A marked in vivo decrease in tumor growth and angiogenesis was also disclosed. MLo1302 disclosed antineoplastic and demethylating activity in RCC cell lines, constituting a potential therapeutic agent for RCC patients.
We sought to expand our knowledge of the clinical spectrum of GNAO1-related neurodevelopmental disorders through a caregiver survey reviewing medical and developmental history and development of epilepsy and movement disorders.
An online survey was administered to caregivers of individuals diagnosed with GNAO1 pathogenic variants.
Eighty-two surveys were completed. Nearly all (99%) reported the first symptom of concern by age one year with the most frequently identified concerns as hypotonia (68%), developmental delay (67%), seizures (29%), difficulty feeding (23%), and abnormal movements (20%). All caregivers reported developmental delays with a spectrum of severity. Movement disorders (76%) were more common than epilepsy (52%), although 33% reported both. The onset of seizures tended to be earlier than abnormal movements. Nearly half (48%) of those with any seizures, reported they were no longer having recurrent seizures. No single most effective medication for movement disorders or epilepsy was noted.
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