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Hybrid reverse Monte Carlo simulations of the structure of Zr50Cu45Al5 bulk metallic glass incorporating medium-range structure from fluctuation electron microscopy data and short-range structure from an embedded atom potential produce structures with significant fractions of icosahedral- and crystal-like atomic clusters. Similar clusters group together into nanometer-scale regions, and relaxation transforms crystal-like clusters into icosahedral clusters. A model refined against only the potential does not agree with the fluctuation microscopy data and contains few crystal-like clusters. [ABSTRACT FROM AUTHOR]

Classic galactosemia (OMIM#230400) is an autosomal recessive inborn error of carbohydrate metabolism caused by a deficiency of the galactose-1-phosphate-uridyl-transferase enzyme encoded by the GALT gene. Even though a galactose-restricted diet efficiently resolves the acute complications, it is insufficient to prevent long-term complications regarding speech defects, intellectual functioning, premature ovarian failure, cataract, hepatomegaly, dysarthria, ataxia, and tremor. Seventy-seven patients who were genetically diagnosed with classic galactosemia were included in this cohort. Identified novel variants were classified based on their predicted effect on the GALT function. Further, potential genotype-phenotype correlations were investigated via statistical analysis. In total, 18 different sequence variants were identified, including four novels (c.200delG/p.(Arg67Profs * 19), c.533T>G/ p.(Met178Arg), c.708_709delGT/p.(Ser236Argfs * 30), c.467C>A/p.(Ser156 * )). Jaundice was the most common short-term finding with 80% (61/77). Even with early diagnosis, intellectual disability is encountered with 36% (27/74) of the long-term complications. Patients with biallelic missense variants have a significantly higher prevalence of cataracts (OR: 17.9). Longitudinal observations showed attenuation of cataracts and hepatomegaly. This study has shown the GALT variation spectrum of the Turkish population with a 30-year retrospective cohort, submitting a significant contribution to the genotype/phenotype correlation in galactosemia. This study also highlights the cost-effective importance of Sanger sequencing in the diagnosis of single-gene metabolic diseases., (© 2023 University College London (UCL) and John Wiley & Sons Ltd.)

Background: Acne vulgaris is a common skin condition which affects most adolescents. It has a major impact on quality of life and psychosocial well-being., Aims: The aims of the study were to examine the psychosocial effects of acne on adolescents and changes in quality of life, and to reveal any difference in the possible effect between genders. In addition, an investigation of the association between acne severity and quality of life as well as psychosocial stress was conducted., Materials and Methods: The present study included 164 adolescents with a mean age of 12-18 years and was diagnosed with acne vulgaris without any previous treatment. The control group consisted of 188 healthy volunteers. Acne severity was evaluated by the global acne grading system. All patients filled in a Children's Dermatology Life Quality Index, Pediatric Quality of Life Questionnaire (PedsQL), and a Strength and Difficulties Questionnaire (SDQ)., Results: The scores of SDQ and PedsQL were significantly lower in the case group. There was no significant correlation found between the genders in the control group for acne severity and scale scores. No significant correlation was found between acne severity and psychosocial challenges., Conclusions: The results of the present study show that acne has a significant effect on quality of life for adolescents, and this has an impact on their psychosocial life. Another important finding of the present study is that worsening in quality of life is not affected by some factors such as duration, severity of acne and age., Competing Interests: There are no conflicts of interest. What is new? The worsening in quality of life is not affected by adolescents' age, severity, and duration of acne.Clinicians should be aware of the impact of acne on adolescent's life and treat even mild forms of acne..

Hybrid reverse Monte Carlo simulations of the structure of Zr50Cu45Al5 bulk metallic glass incorporating medium-range structure from fluctuation electron microscopy data and short-range structure from an embedded atom potential produce structures with significant fractions of icosahedral- and crystal-like atomic clusters. Similar clusters group together into nanometer-scale regions, and relaxation transforms crystal-like clusters into icosahedral clusters. A model refined against only the potential does not agree with the fluctuation microscopy data and contains few crystal-like clusters.