Notes

Specialized medical symptoms of people together with GDF2 versions associated with genetic hemorrhagic telangiectasia type 5.
s. However, a subset of the acoustic measures that were statistically significant across the recording conditions showed small overall differences that are unlikely to have clinical significance in interpretation. For these acoustic measures, the present data suggest that, although a sound-treated setting is ideal for voice sample collection, a smartphone microphone can capture acceptable recordings for acoustic signal analysis.Nanoplastics are considered contaminants of emerging concern at the global scale. The recent evidence of their occurrence in seawater from the Mediterranean Sea calls for a thorough evaluation of their impact on marine life and in particular on vulnerable life stages such as planktonic embryos. Here, we investigated the impact of increasing nominal concentrations of 50 nm amino-modified (PS-NH2) and 60 nm carboxy-modified (PS-COOH) polystyrene nanoparticles (PS NPs) on the embryonic development of the ascidian Ciona robusta (phylum Chordata), a common benthic invertebrate living in Mediterranean coastal areas with the peculiarity of being an early chordate developmental model. A strong agglomeration of PS-COOH (approx. 1 µm) was observed in natural sea water (NSW) already at time 0, while PS-NH2 resulted still monodispersed (approx. 130 nm) but largely aggregated after 22 h with a microscale dimension similar to those negatively charged. However, their effect on C. robusta embryos development largely differed at 22 h PS-COOH did not affect larvae phenotypes nor their development, while PS-NH2 caused a dose-dependent effect (EC50 (22 h) of 7.52 μg mL-1) with various degrees of phenotype malformations (from mild to severe) and impairment of larval swimming. Embryos (up to 30%) exposed to 15 µg mL-1 PS-NH2 resulted not developed and the majority was unable to hatch. Calculated PS-NH2 EC50 resulted higher than those available for other marine invertebrate species, suggesting a protective role of the egg envelopes surrounding C. robusta embryos toward nanoplastics exposure.Purpose There has been increased interest in using telepractice for involving more diverse children in research and clinical services, as well as when in-person assessment is challenging, such as during COVID-19. Little is known, however, about the feasibility, reliability, and validity of language samples when conducted via telepractice. Method Child language samples from parent-child play were recorded either in person in the laboratory or via video chat at home, using parents' preferred commercially available software on their own device. Samples were transcribed and analyzed using Systematic Analysis of Language Transcripts software. Analyses compared measures between-subjects for 46 dyads who completed video chat language samples versus 16 who completed in-person samples; within-subjects analyses were conducted for a subset of 13 dyads who completed both types. Groups did not differ significantly on child age, sex, or socioeconomic status. Results The number of usable samples and percent of utterances with intelligible audio signal did not differ significantly for in-person versus video chat language samples. Child speech and language characteristics (including mean length of utterance, type-token ratio, number of different words, grammatical errors/omissions, and child speech intelligibility) did not differ significantly between in-person and video chat methods. This was the case for between-group analyses and within-child comparisons. Furthermore, transcription reliability (conducted on a subset of samples) was high and did not differ between in-person and video chat methods. Conclusions This study demonstrates that child language samples collected via video chat are largely comparable to in-person samples in terms of key speech and language measures. #link# Best practices for maximizing data quality for using video chat language samples are provided.ABSTRACT As part of a multisectoral response to gender-based violence (GBV), Nepal is testing the feasibility of having female community health volunteers (FCHVs) play a formal role in identifying GBV survivors and referring them to specialised services at health facilities. This study followed 116 FHCVs in Mangalsen municipality who attended a one-day orientation on GBV. Over the following year, data were collected from knowledge and attitude assessments of FCHVs, focus group discussions with FCHVs, and members of Mothers' Groups for Health. link2 Most Significant Change stories were collected from FCHVs, in-depth interviews with stakeholders, and service statistics. Results show that the FCHVs' knowledge increased, attitudes changed, and confidence in addressing GBV grew. During the study period, FCHVs identified 1,253 GBV survivors and referred 221 of them to health facilities. In addition to assisting GBV survivors, FCHVs worked to prevent GBV by mediating conflicts and curbing harmful practices such as menstrual isolation. Stakeholders viewed FCHVs as a sustainable resource for identifying and referring GBV survivors to services, while women trusted them and looked to them for help. Results show that, with proper training and safety mechanisms, FCHVs can raise community awareness about GBV, facilitate support for survivors, and potentially help prevent harmful practices.Purpose Pitch reception poses challenges for individuals with cochlear implants (CIs), and adding a hearing aid (HA) in the nonimplanted ear is potentially beneficial. The current study used fine-scale synthetic speech stimuli to investigate the bimodal benefit for lexical tone categorization in Mandarin-speaking kindergarteners using a CI and an HA in opposite ears. Method The data were collected from 16 participants who were required to complete two classical tasks for speech categorical perception (CP) with CI + HA device condition and CI alone condition. Linear mixed-effects models were constructed to evaluate the identification and discrimination scores across different device conditions. Results The bimodal kindergarteners showed CP for the continuum varying from Mandarin Tone 1 and Tone 2. Moreover, the additional acoustic information from the contralateral HA contributes to improved lexical tone categorization, with a steeper slope, a higher discrimination score of between-category stimuli pair, and an improved peakedness score (i.e., an increased benefit magnitude for discriminations of between-category over within-category pairs) for the CI + HA condition than the CI alone condition. The bimodal kindergarteners with better residual hearing thresholds at 250 Hz level in the nonimplanted ear could perceive lexical tones more categorically. Conclusion The enhanced CP results with bimodal listening provide clear evidence for the clinical practice to fit a contralateral HA in the nonimplanted ear in kindergarteners with unilateral CIs with direct benefits from the low-frequency acoustic hearing.The study of chromosome evolution is undergoing a resurgence of interest owing to advances in DNA sequencing technology that facilitate the production of chromosome-scale whole-genome assemblies de novo. This review focuses on the history, methods, discoveries, and current challenges facing the field, with an emphasis on vertebrate genomes. A detailed examination of the literature on the biology of chromosome rearrangements is presented, specifically the relationship between chromosome rearrangements and phenotypic evolution, adaptation, and speciation. A critical review of the methods for identifying, characterizing, and visualizing chromosome rearrangements and computationally reconstructing ancestral karyotypes is presented. We conclude by looking to the future, identifying the enormous technical and scientific challenges presented by the accumulation of hundreds and eventually thousands of chromosome-scale assemblies.Genetically engineered (GE) livestock were first reported in 1985, and yet only a single GE food animal, the fast-growing AquAdvantage salmon, has been commercialized. There are myriad interconnected reasons for the slow progress in this once-promising field, including technical issues, the structure of livestock industries, lack of public research funding and investment, regulatory obstacles, and concern about public opinion. This review focuses on GE livestock that have been produced and documents the difficulties that researchers and developers have encountered en route. Additionally, the costs associated with delayed commercialization of GE livestock were modeled using three case studies GE mastitis-resistant dairy cattle, genome-edited porcine reproductive and respiratory syndrome virus-resistant pigs, and the AquAdvantage salmon. Delays of 5 or 10 years in the commercialization of GE livestock beyond the normative 10-year GE product evaluation period were associated with billions of dollars in opportunity costs and reduced global food security.Purpose Specific language impairment (SLI) is characterized by a delay in language acquisition despite a lack of other developmental delays or hearing loss. Genetics of SLI is poorly understood. The purpose of this study is to identify SLI genetic loci through family-based linkage mapping. Method We performed genome-wide parametric linkage analysis in six families segregating with SLI. An age-appropriate standardized omnibus language measure was used to categorically define the SLI phenotype. Results A suggestive linkage region replicated a previous region of interest with the highest logarithm of odds (LOD) score of 2.40 at 14q11.2-q13.3 in Family 489. read more -of-origin effect associated with SLI and language phenotypes on a nonsynonymous single nucleotide polymorphism (SNP) in NOP9 (14q12) was reported previously. Linkage analysis identified a new SLI locus at 15q24.3-25.3 with the highest parametric LOD score of 3.06 in Family 315 under a recessive mode of inheritance. Suggestive evidence of linkage was also revealed at 4q31.23-q35.2 in Family 300, with the highest LOD score of 2.41. Genetic linkage was not identified in the other three families included in parametric linkage analysis. Conclusions These results are the first to report genome-wide suggestive linkage with a total language standard score on an age-appropriate omnibus language measure across a wide age range. Our findings confirm previous reports of a language-associated locus on chromosome 14q, report new SLI loci, and validate the pedigree-based parametric linkage analysis approach to mapping genes for SLI. Supplemental Material https//doi.org/10.23641/asha.13203218.Intimate partner violence (IPV) is a significant global health issue. Organised diffusion has potential to influence changes in norms that perpetuate harmful practices by spreading anti-IPV messaging throughout social networks. The Change Starts at Home intervention in Nepal leverages radio programming and community mobilisation to address the perpetration of IPV. This qualitative analysis of couple interviews at the 18-month follow-up (N = 35 individuals) seeks to evaluate how the intervention messaging diffused into the community using organised diffusion as a framework, and how this influenced any changes in norms related to the perpetration of IPV. Overall, this study provides evidence that the Change at Home Intervention effectively diffused into the community and began to promote changes around IPV norms, especially among relationships that were socially and geospatially close. link3 This analysis demonstrates the potential for organised diffusion to facilitate social norms change around IPV.
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