Publishing type：Research paper (scientific journal)   International / domestic magazine：International journal  

Prader-Willi syndrome (PWS) is a rare neurogenetic disorder characterized by endocrine, metabolic, behavioral, and psychiatric features. These manifestations may affect health-related quality of life (HRQOL). Evidence on HRQOL in adolescents and adults with PWS remains limited. This study evaluated HRQOL and examined sex, age, genetic, and behavioral factors associated with HRQOL in individuals with genetically confirmed PWS aged 16 years and over. A proxy-reported questionnaire survey was conducted through a Japanese national PWS support group, and responses from 119 participants (median age, 25 years) were analyzed. The primary outcome was a EuroQol five-dimension five-level (EQ-5D-5L) index value in the upper tertile of the study distribution (≥ 0.744). The median EQ-5D-5L index value was 0.665 (IQR, 0.549-0.775), and the mean was 0.652 (SD, 0.180). Only 4.3% of participants reported no problems in any dimension. Younger age (16-19 years) (OR, 4.62; 95% CI, 1.42-15.1), the deletion genetic subtype (4.79; 1.15-20.0), and lower problematic food-related behaviors (0.90; 0.83-0.97) were independently associated with an EQ-5D-5L index value in the upper tertile. Support during the transition from late adolescence to early adulthood and attention to problematic food-related behaviors may be important for improving the HRQOL of individuals with PWS.

DOI： 10.1002/ajmg.a.70222

PubMed

Publishing type：Research paper (scientific journal)   International / domestic magazine：International journal  

A clear consensus on the factors contributing to adverse reactions following the mRNA COVID-19 vaccine has yet to be reached. Therefore, the present study investigated adverse reactions following the first three doses of the BNT162b2 mRNA COVID-19 vaccine and examined associated factors, including previous experience of adverse reactions. Two prospective cohort studies were integrated for this study, and 218 participants (79% female; median age 46.5 years) who had completed all three doses of BNT162b2 were included in the final analyses. Data were collected through self-administered electronic questionnaires. Local and systemic adverse reactions following vaccinations were classified with severity grading. Modified Poisson regression models were used to examine the association of adverse reactions. Local reactions were reported by 91-96% of participants, with moderate or severe local reactions in 27-43%. Systemic reactions were reported by 56-88% of participants, with moderate or severe systemic reactions in 19-56%. Participants with a history of moderate or severe local reactions were more likely to subsequently have moderate or severe local reactions (relative risk: 2.32 [95% confidence interval: 1.52-3.55] for the second dose, 1.89 [1.33-2.69] for the third dose), but not systemic reactions. Participants with a history of moderate or severe systemic reactions were more likely to subsequently have moderate or severe systemic reactions (1.31 [0.99-1.72] for the second dose, 2.18 [1.56-3.06] for the third dose), but not local reactions. These results may contribute to a more detailed understanding of mRNA COVID-19 vaccines and provide information for future vaccine development.

DOI： 10.1080/21645515.2025.2518646

PubMed

Publishing type：Research paper (scientific journal)   International / domestic magazine：International journal  

OBJECTIVE: Accurate evaluation of thyroid dysfunction in children with Down syndrome is challenging because of the lack of age-specific reference intervals in these individuals. This study aimed to establish age-specific reference intervals for thyroid-stimulating hormone (TSH) and free thyroxine (FT4) levels in children with Down syndrome. METHODS: A retrospective cross-sectional study was conducted on children with Down syndrome, aged 6 months to 15 years, who visited the Osaka Women's and Children's Hospital between April 2019 and March 2020. Subjects who had used medications that influenced thyroid function or who lacked thyroid hormone data were excluded from the study. The final analysis included 301 subjects. Serum TSH and FT4 levels were measured, and reference intervals were calculated using nonparametric methods. RESULTS: The reference intervals for TSH in children with Down syndrome were 2.03-14.22, 1.79-12.98, 1.26-10.24, and 0.58-10.11 mIU/L in infants, toddlers, school children, and adolescents, respectively, which were higher than those observed in the general paediatric population. The reference intervals for FT4 were 13.57-26.42, 13.20-22.70, 13.15-22.36, and 11.97-24.77 pmol/L, respectively, which were comparable to those of the general paediatric population. Multivariate regression analyses revealed a significant inverse association between age and the levels of TSH and FT4 (p < 0.01). CONCLUSIONS: We provide evidence for age-specific reference intervals for TSH and FT4 levels in children with Down syndrome, which may help clinicians accurately evaluate thyroid hormone status.

DOI： 10.1111/cen.15236

PubMed

Publishing type：Research paper (scientific journal)   International / domestic magazine：Domestic journal  

AIM: Elderly adults are at higher risk for severe COVID-19 infection. This multicenter, prospective cohort study assessed immunogenicity after COVID-19 vaccinations in elderly residents compared with staff in geriatric intermediate care facilities. Predictors of lower antibody titers were also examined. METHODS: Fifty-four residents and 117 staff who had received three doses of the COVID-19 mRNA vaccine between March 2021 and September 2022 were included. Anti-receptor binding domain antibody titers were measured 3-4 weeks and 6 months after the vaccinations. Adjusted geometric mean titers (GMT) were calculated using multivariable linear mixed effects models. RESULTS: After the first dose, residents had a significantly lower adjusted GMT than did staff (115 vs. 267 AU/mL, P < 0.01), whereas the adjusted GMT of residents was comparable to that of staff after the third dose (14 178 vs. 12 159 AU/mL, P = 0.63). However, 6 months later, the adjusted GMT of residents was less than half that of staff (1645 vs. 4302 AU/mL, P < 0.01). In residents, steroid users had a significantly lower adjusted GMT than did steroid nonusers. CONCLUSIONS: The third dose of mRNA vaccine boosted the immune response of elderly residents. However, their antibody titers, particularly in steroid users, were highly attenuated 6 months after the last vaccination. For this population, attention should be focused on additional vaccinations. Geriatr Gerontol Int 2025; 25: 588-597.

DOI： 10.1111/ggi.70028

PubMed

Publishing type：Research paper (scientific journal)   International / domestic magazine：International journal  

To evaluate the antibody response following the initial four doses of mRNA vaccines (BNT162b2 or mRNA-1273) in SARS-CoV-2-naïve healthy adults and investigate factors influencing antibody titer increases, this prospective cohort study was conducted in Japan from March 2021. The study included participants who received either the 1st and 2nd doses (n = 467), 3rd dose (n = 157), or 4th dose (n = 89). Blood samples were collected before and up to 6 months after each dose, and anti-receptor-binding domain antibody levels were measured. Multivariate analysis (usin multiple linear regression or linear mixed models) revealed several factors significantly associated with higher post-vaccination antibody levels, including mRNA-1273 vaccine (after the 1st and 2nd dose), male gender (after the 3rd and 4th doses), younger age (after the 1st and 2nd dose), non-smoking status (after the 2nd dose), non-use of immunosuppressive agents (after the 1st dose), higher pre-vaccination antibody titers (after the 2nd, 3rd, and 4th doses), and higher post-vaccination fever (after the 2nd and 4th doses). Furthermore, longer intervals since the last dose were significantly associated with higher antibody levels after the 3rd and 4th doses. These findings provide valuable insights for optimizing vaccination strategies.

DOI： 10.1038/s41598-024-57931-0

PubMed

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