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1.
Clin Pediatr Endocrinol ; 31(1): 10-17, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35002063

RESUMO

We observed trends in the height of children aged 3 to 6 in Japan using data from the National Growth Survey on Preschool Children in the years 1990, 2000, and 2010. Average standard deviation (SD) scores of height decreased from 0.39 (SD 1.02) in 1990 (n = 3,684) to 0.37 (SD 1.05) in 2000 (n = 2,981) and 0.33 (SD 1.07) in 2010 (n = 2,027). Mothers of children in later waves were taller, older, and more likely to be primiparous; children in later waves had shorter gestational age, lower birth weight, and were less likely to have been fed less with formula or solid foods before 6 mo. The only factor that consistently contributed to a reduction in children's height for both 1990-2000 and 2000-2010 was a reduction in birthweight SD score (indirect effect on height -1.5 [95% CI: -1.9, -1.1] mm for 1990-2000 and -1.2 [95% CI: -1.8, -0.8] mm for 2000-2010). Factors that contributed, although not significantly or consistently between the two periods, were changes in pre-pregnancy BMI, smoking during pregnancy, multiple pregnancies, gestational age, BMI at birth, and use of formula and solid foods before 6 mo. Secular increases in maternal age, height, and primiparity contributed to increasing children's height.

2.
Int Heart J ; 62(2): 445-447, 2021 Mar 30.
Artigo em Inglês | MEDLINE | ID: mdl-33731536

RESUMO

Recessive mutations in the Myosin regulatory light chain 2 (MYL2) gene are the cause of an infantile-onset myopathy, associated with fatal myocardial disease of variable macromorphology. We here present the first Japanese family affected with recessive MYL2 myopathy. Affected siblings manifested typical features and the proband's autopsy findings were compatible with the diagnosis of noncompaction cardiomyopathy. The rapidly progressive clinical course of this recessive MYL2 cardiomyopathy highlights the crucial role of c-terminal tails in MYL2 protein in maintaining cardiac morphology and function.


Assuntos
Cardiomiopatias/genética , DNA/genética , Mutação , Miocárdio/patologia , Proteína da Leucemia Promielocítica/genética , Cardiomiopatias/diagnóstico , Cardiomiopatias/metabolismo , Análise Mutacional de DNA , Evolução Fatal , Feminino , Humanos , Lactente , Miocárdio/metabolismo , Linhagem , Proteína da Leucemia Promielocítica/metabolismo
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