| 1. |
- de Melo, Maria Emilia, et al.
(author)
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Listening and Spoken Language Specialist Auditory–Verbal Certification: Self-Perceived Benefits and Barriers to Inform Change
- 2022
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In: Perspectives of the ASHA Special Interest Groups. - : American Speech-Language-Hearing Association. - 2381-4764 .- 2381-473X. ; 7:6, s. 1828-1852
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Journal article (peer-reviewed)abstract
- Purpose:The aim of this study was to explore the path to Listening and Spoken Language Specialist (LSLS) certification from the professional's viewpoint as well as to address motivation, self-perceived gains, challenges, and barriers to certification in an international cohort with the purpose of guiding future change within the existing certification system.Method:Members of the AG Bell Academy for Listening and Spoken Language (AG Bell Academy) Global Matters Committee created an online survey disseminated by the AG Bell Academy in English and Spanish for professionals who were certified LSLSs, mentees currently pursuing the certification, and professionals interested in the certification. Participants (N = 295) were from different parts of the world. Of the respondents, 48% reported English as their first language, 19% reported Spanish as their first language, and the remaining 33% reported one of 26 other languages as their first language. Approximately 40% of the total respondents were certified LSLSs (n = 117), and 50% of them lived in the United States.Results:The findings indicate that certified LSLSs perceived significant growth in knowledge and skills as a result of the certification process. Personal motivation drove individuals to pursue certification. A common barrier among all participants was limited resources, such as time, funds, and access to a mentor who speaks the same language.Conclusions:There is a need for more awareness of the significant gains LSLS certification can bring to professionals. There is further need to address, minimize, and overcome perceived barriers in the process. Future similar research is warranted to explore the gains and barriers of obtaining the LSLS certification outside the English-speaking countries and in a larger, more population-based sample.
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| 2. |
- Leal, Gabriela Ferraz, et al.
(author)
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Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2
- 2018
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In: Journal of Bone and Mineral Research. - : Wiley. - 0884-0431. ; 33:4, s. 753-760
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Journal article (peer-reviewed)abstract
- Osteogenesis imperfecta (OI) is a strikingly heterogeneous group of disorders with a broad range of phenotypic variations. It is also one of the differential diagnoses in bent bone dysplasias along with campomelic dysplasia and thanatophoric dysplasia and can usually be distinguished by decreased bone mineralization and bone fractures. Bent bone dysplasias also include syndromes such as kyphomelic dysplasia (MIM:211350) and mesomelic dysplasia Kozlowski-Reardon (MIM249710), both of which have been under debate regarding whether or not they are a real entity or simply a phenotypic manifestation of another dysplasia including OI. Bruck syndrome type 2 (BRKS2; MIM:609220) is a rare form of autosomal recessive OI caused by biallelic PLOD2 variants and is associated with congenital joint contractures with pterygia. In this report, we present six patients from four families with novel PLOD2 variants. All cases had multiple fractures. Other features ranged from prenatal lethal severe angulation of the long bones as in kyphomelic dysplasia and mesomelic dysplasia Kozlowski-Reardon through classical Bruck syndrome to moderate OI with normal joints. Two siblings with a kyphomelic dysplasia-like phenotype who were stillborn had compound heterozygous variants in PLOD2 (p.Asp585Val and p.Ser166*). One infant who succumbed at age 4 months had a bent bone phenotype phenotypically like skeletal dysplasia Kozlowski-Reardon (with mesomelic shortening, camptodactyly, retrognathia, cleft palate, skin dimples, but also with fractures). He was homozygous for the nonsense variant (p.Trp561*). Two siblings had various degrees of Bruck syndrome caused by the homozygous missense variant, p.His687Arg. Furthermore a boy with a clinical presentation of moderate OI had a possibly pathogenic homozygous variant p.Trp588Cys. Our experience of six patients with biallelic pathogenic variants in PLOD2 expands the phenotypic spectrum in the PLOD2-related phenotypes.
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| 3. |
- Sarmiento Pico, Luis, et al.
(author)
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Elucidating the nature of the proton radioactivity and branching ratio on the first proton emitter discovered 53mCo
- 2023
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In: Nature Communications. - 2041-1723. ; 14
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Journal article (peer-reviewed)abstract
- The observation of a weak proton-emission branch in the decay of the 3174keV 53mCo isomeric state marked the discovery of proton radioactivity in atomic nuclei in 1970. Here we show, based on the partial half-lives and the decay energies of the possible proton-emission branches, that the exceptionally high angular momentum barriers, lp = 9 and lp = 7, play a key role in hindering the proton radioactivity from 53mCo, making them very challenging to observe and calculate. Indeed, experiments had to wait decades for significant advances in accelerator facilities and multi-faceted state-of-the-art decay stations to gain full access to all observables. Combining data taken with the TASISpec decay station at the Accelerator Laboratory of the University of Jyväskylä, Finland, and the ACTAR TPC device on LISE3 at GANIL, France, we measured their branching ratios as bp1 = 1.3(1)% and bp2 = 0.025(4)%. These results were compared to cutting-edge shell-model and barrier penetration calculations. This description reproduces the order of magnitude of the branching ratios and partial half-lives, despite their very small spectroscopic factors.
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| 4. |
- Zhao, Sen, et al.
(author)
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Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders
- 2022
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In: NPJ genomic medicine. - : Nature Publishing Group. - 2056-7944. ; 7:1
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Journal article (peer-reviewed)abstract
- Pathogenic variants in MYH3 cause distal arthrogryposis type 2A and type 2B3 as well as contractures, pterygia and spondylocarpotarsal fusion syndromes types 1A and 1B. These disorders are ultra-rare and their natural course and phenotypic variability are not well described. In this study, we summarize the clinical features and genetic findings of 17 patients from 10 unrelated families with vertebral malformations caused by dominant or recessive pathogenic variants in MYH3. Twelve novel pathogenic variants in MYH3 (NM_002470.4) were identified: three of them were de novo or inherited in autosomal dominant way and nine were inherited in autosomal recessive way. The patients had vertebral segmentation anomalies accompanied with variable joint contractures, short stature and dysmorphic facial features. There was a significant phenotypic overlap between dominant and recessive MYH3-associated conditions regarding the degree of short stature as well as the number of vertebral fusions. All monoallelic variants caused significantly decreased SMAD3 phosphorylation, which is consistent with the previously proposed pathogenic mechanism of impaired canonical TGF-β signaling. Most of the biallelic variants were predicted to be protein-truncating, while one missense variant c.4244T>G,p.(Leu1415Arg), which was inherited in an autosomal recessive way, was found to alter the phosphorylation level of p38, suggesting an inhibition of the non-canonical pathway of TGF-β signaling. In conclusion, the identification of 12 novel pathogenic variants and overlapping phenotypes in 17 affected individuals from 10 unrelated families expands the mutation and phenotype spectrum of MYH3-associated skeletal disorders. We show that disturbances of canonical or non-canonical TGF-β signaling pathways are involved in pathogenesis of MYH3-associated skeletal fusion (MASF) syndrome.
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