10 research outputs found

    Surface engineering of titanium by multi-interstitial diffusion using plasma processing

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    Titanium and its alloys possess a range of highly interesting properties such as excellent corrosion resistance, high specific strength and biocompatibility, but suffers from poor wear resistance. The present work addresses plasma assisted surface treatment of CP 2 titanium using various combinations of oxygen and nitrogen, i.e. mixed interstitials. The sequence of controlled plasma nitriding and oxidizing treatments plays a significant role for the evolution of the hardness depth profiles and the development of the surface compound layer and the underlying diffusion/transition zone. Composition profiles of oxygen and nitrogen are obtained by GDOES; Mixed interstitial solubility of nitrogen and oxygen is found in both h.c.p. α titanium and in the compound layer. The combination of interstitials leads to larger case depth, in particular for the diffusion zone (expanded h.c.p. α titanium). Therefore, it highlights the advantages of combined nitriding and oxidizing compared to single nitriding treatments on the mechanical properties

    Surface engineering of titanium by multi-interstitial diffusion using plasma processing

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    Titanium and its alloys possess a range of highly interesting properties such as excellent corrosion resistance, high specific strength and biocompatibility, but suffers from poor wear resistance. The present work addresses plasma assisted surface treatment of CP 2 titanium using various combinations of oxygen and nitrogen, i.e. mixed interstitials. The sequence of controlled plasma nitriding and oxidizing treatments plays a significant role for the evolution of the hardness depth profiles and the development of the surface compound layer and the underlying diffusion/transition zone. Composition profiles of oxygen and nitrogen are obtained by GDOES; Mixed interstitial solubility of nitrogen and oxygen is found in both h.c.p. α titanium and in the compound layer. The combination of interstitials leads to larger case depth, in particular for the diffusion zone (expanded h.c.p. α titanium). Therefore, it highlights the advantages of combined nitriding and oxidizing compared to single nitriding treatments on the mechanical properties

    Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

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    BACKGROUND: In genome-wide screening studies for de novo mutations underlying autism and intellectual disability, mutations in the ADNP gene are consistently reported among the most frequent. ADNP mutations have been identified in children with autism spectrum disorder comorbid with intellectual disability, distinctive facial features, and deficits in multiple organ systems. However, a comprehensive clinical description of the Helsmoortel-Van der Aa syndrome is lacking.METHODS: We identified a worldwide cohort of 78 individuals with likely disruptive mutations in ADNP from January 2014 to October 2016 through systematic literature search, by contacting collaborators, and through direct interaction with parents. Clinicians filled in a structured questionnaire on genetic and clinical findings to enable correlations between genotype and phenotype. Clinical photographs and specialist reports were gathered. Parents were interviewed to complement the written questionnaires.RESULTS: We report on the detailed clinical characterization of a large cohort of individuals with an ADNP mutation and demonstrate a distinctive combination of clinical features, including mild to severe intellectual disability, autism, severe speech and motor delay, and common facial characteristics. Brain abnormalities, behavioral problems, sleep disturbance, epilepsy, hypotonia, visual problems, congenital heart defects, gastrointestinal problems, short stature, and hormonal deficiencies are common comorbidities. Strikingly, individuals with the recurrent p.Tyr719* mutation were more severely affected.CONCLUSIONS: This overview defines the full clinical spectrum of individuals with ADNP mutations, a specific autism subtype. We show that individuals with mutations in ADNP have many overlapping clinical features that are distinctive from those of other autism and/or intellectual disability syndromes. In addition, our data show preliminary evidence of a correlation between genotype and phenotype.Genetics of disease, diagnosis and treatmen
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