Language：Japanese   Publisher：(公社)日本小児科学会  

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Language：Japanese   Publisher：(公社)日本小児科学会  

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Authorship：Lead author   Publishing type：Research paper (scientific journal)   Publisher：Japan Medical Association  

DOI： 10.31662/jmaj.2023-0193

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Language：English   Publishing type：Research paper (scientific journal)  

BACKGROUND: Cleft lip and/or palate (CL/P) is one of the most frequent craniofacial disorder which could associate with a wide range of craniofacial complication. In order to perform comprehensive care of CL/P patients, it is crucial to elucidate the link of CL/P and general clinical conditions. This study aims to elucidate the relationships between medical history of different CL/P types and infectious diseases to serve as a reference for the comprehensive care of patients with CL/P. METHODS: We investigated the association between a history different types of CL/P and the risk of infectious diseases among 1-year old children in the Japan Environment and Children's Study (JECS). Among the 104,065 registered fetal records, 92,590 eligible participants were included in the analysis. RESULTS: The multivariable-adjusted risk ratios (95% confidence intervals) for otitis media were increased in cleft lip and palate (CLP) and cleft palate only (CPO) groups by 3.81 (2.73-5.31) and 2.27 (1.22-4.22), respectively. The prevalence of Upper respiratory inflammation (URTI) was not associated with CLP, cleft lip only, or CPO. However, analysis in all groups showed a higher risk of URTI compared with the control group (1.31 [1.04-1.66]). CONCLUSIONS: CL/P care requires additional attention to prevent airway infectious diseases such as URTI before 1 year of age. Further research is warranted to elucidate the relationship between CL/P and general medical conditions.

DOI： 10.1265/ehpm.24-00150

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OBJECTIVE: To assess the association between gestational age classification at birth and the risk of neurodevelopmental impairments at age 3 years. DESIGN: Cohort study using the Japan Environment and Children's Study database. PATIENTS: A total of 86 138 singleton children born without physical abnormalities at 32-41 weeks of gestation enrolled between January 2011 and March 2014. MAIN OUTCOME MEASURES: Neurodevelopmental impairment, evaluated using the Ages and Stages Questionnaire (third edition). METHODS: Logistic regression analysis was used to evaluate the risk of neurodevelopmental impairment in moderate preterm, late preterm and early term children compared with term children after adjusting for socioeconomic and perinatal factors. RESULTS: The respective adjusted ORs (95% CIs) of incidence of scores below the cut-off value (<-2.0 SD) at age 3 years for moderate preterm, late preterm and early term births, compared with full-term births, were as follows: communication, 2.40 (1.54 to 3.73), 1.43 (1.19 to 1.72) and 1.11 (1.01 to 1.21); gross motor, 2.55 (1.69 to 3.85), 1.62 (1.36 to 1.93) and 1.20 (1.10 to 1.30); fine motor, 1.93 (1.34 to 2.78), 1.55 (1.35 to 1.77) and 1.08 (1.01 to 1.15); problem solving, 1.80 (1.22 to 2.68), 1.36 (1.19 to 1.56) and 1.07 (1.00 to 1.14) and personal-social, 2.09 (1.29 to 3.40), 1.32 (1.07 to 1.63) and 1.00 (0.91 to 1.11). CONCLUSION: Moderate preterm, late preterm and early term births were associated with developmental impairment at age 3 years compared with full-term births, with increasing prematurity. Careful follow-up of non-full-term children by paediatricians and other healthcare providers is necessary for early detection of neurodevelopmental impairment and implementation of available intervention.

DOI： 10.1136/archdischild-2023-325600

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Language：English   Publishing type：Research paper (scientific journal)  

BACKGROUND: Prenatal exposure to metallic elements may adversely affect early childhood health. However, more evidence is needed as population-based cohort studies are currently limited. OBJECTIVES: We aimed to examine the associations between prenatal metallic (mercury, selenium, and manganese) exposure and the risk of allergic diseases in early childhood until three years of age. METHODS: The data from 94,794 mother-infant pairs, who participated in the Japan Environment and Children's study, were used in this study. Prenatal metallic element exposure was measured in maternal blood collected during mid-pregnancy. The incidence of atopic dermatitis, food allergies, asthma, and allergic rhinitis during the first three years of life was prospectively investigated using self-reports of physician-diagnosed allergies. A multivariable modified Poisson regression model was used to estimate the cumulative incidence ratio and their 95% confidence intervals of allergic diseases associated with prenatal exposure to mercury, selenium, and manganese. We further evaluated the interaction between mercury and selenium exposures in this association. RESULTS: We confirmed 26,238 cases of childhood allergic diseases: atopic dermatitis, food allergies, asthma, and allergic rhinitis in 9,715 (10.3%), 10,897 (11.5%), and 9,857 (10.4%), 4,630 (4.9%), respectively. No association was found between prenatal mercury or manganese exposure and the risk of allergic diseases. Prenatal selenium exposure was inversely associated with atopic dermatitis, food allergies, allergic rhinitis, and any allergic diseases, but not with asthma. These inverse associations were more pronounced for lower mercury exposures than for higher exposures. CONCLUSIONS: Our findings suggest that prenatal exposure to selenium may be beneficial for reducing the risk of atopic dermatitis, food allergies, allergic rhinitis, and any allergic diseases in early childhood, especially with lower prenatal mercury exposure.

DOI： 10.1016/j.envint.2023.108123

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DOI： 10.50870/00000614

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Publishing type：Research paper (scientific journal)   Publisher：Japan Epidemiological Association  

DOI： 10.2188/jea.je20210117

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Language：English  

DOI： 10.1007/s00431-023-04942-0

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This observational cohort study aimed to evaluate the association between the duration of neonatal phototherapy and sleep-and-wakefulness states at 1 month, 1.5 years, and 3 years of age. We analysed data from 77,876 infants using the Japan Environment and Children's Study, a nationwide birth cohort study. The participants were divided into three groups: no phototherapy, short phototherapy (1-24 h), and long phototherapy (>24 h). Multiple regression analysis was performed to assess the effect of phototherapy duration on infant sleep at each age after adjusting for potential risk factors. A longer duration of phototherapy was associated with a shorter sleep time over 24 h at 1 month of age (β, -0.62; SE, -0.77 to -0.47) when compared with a shorter duration of, or no, phototherapy, following the adjustment of confounding factors. Contrastingly, the short duration group, when compared with the no phototherapy group, was associated with later sleep onset (β, 0.04; SE, 0.00-0.08) and later sleep offset (β, 0.05; SE, 0.01-0.09) at 1.5 years of age. We concluded that the duration of phototherapy may be transiently associated with sleep duration in infants, as emphasised by the shortening of the total sleep time per 24 h at 1 month of age.

DOI： 10.1111/jsr.13911

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Publishing type：Research paper (scientific journal)   Publisher：Frontiers Media SA  

To investigate school-age children's perspectives on food and nutrition, we pilot tested a method to quantify and analyze crayon drawings collected from students in health education classes at two elementary schools in Fukushima, Japan. Included were 28 students in a mixed class of first and second graders and 26 students in a fourth-grade class. Specific foods, general shapes, and color choices in children's drawings were entered into a spreadsheet and analyzed quantitatively. From first- and second-graders' data, co-occurrence network analysis put meals into three groups: at home, eating out, and lunch boxes. Among fourth graders, co-occurrence network analysis called attention to the cucumber, noteworthy for being a local agricultural product. In addition, students who drew more side dishes also drew more staple foods and main dishes (p = 0.04), used more colors (p = 0.006), and showed satisfaction with their community (p = 0.04). These results suggest that students' understanding of eating was centered on the places where they eat and that they valued regional specialty products. Furthermore, the drawing of side dishes was indicative of a balanced diet, which in turn was associated with higher satisfaction with their community. Our trial indicates that children's drawings can be a useful tool for adults to grasp children's understanding of health-related information in daily living.

DOI： 10.3389/fcomm.2023.1008108

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Language：English   Publishing type：Research paper (scientific journal)  

UNLABELLED: This observational cohort study aimed to examine the association between the duration of phototherapy for neonatal jaundice and the risk of developmental delay at 3 years of age using nationwide birth cohort data. Data from 76,897 infants were analyzed. We divided participants into four groups: no phototherapy, short phototherapy (1-24 h), long phototherapy (25-48 h), and very long phototherapy (> 48 h). The Japanese version of the Ages and Stages Questionnaire-3 was used to evaluate the risk of developmental delay at 3 years of age. Logistic regression analysis was performed to assess the impact of phototherapy duration on the prevalence of developmental delay. After adjustment for potential risk factors, a dose-response relationship was identified between the duration of phototherapy and Ages and Stages Questionnaire-3, and the differences were significant in four domains; odds ratio for communication delay was associated with short, long, and very long phototherapy = 1.10 (95% confidence interval 0.97-1.26), 1.32 (1.04-2.66), and 1.48 (1.11-1.98), respectively; for gross motor delay = 1.01 (0.89-1.15), 1.28 (1.03-2.58), and 1.26 (0.96-1.67); for problem solving delay = 1.13 (1.03-1.25), 1.19 (0.99-1.43), and 1.41 (1.11-1.79); and for personal social delay = 1.15 (0.99-1.32), 1.10 (0.84-1.44), and 1.84 (1.38-2.45). CONCLUSION: Longer duration of phototherapy is a predictive factor for developmental delay, making it important to avoid extended periods of phototherapy. However, whether it increases the prevalence of developmental delay remains unclear. WHAT IS KNOWN: • Phototherapy is a common treatment for neonatal jaundice, associated with both short-term and long-term complications. • However, an association between phototherapy and the prevalence of developmental delay has not been revealed in a large cohort study. WHAT IS NEW: • We identified that a long duration of phototherapy was a predictive factor for developmental delay at 3 years of age. • However, whether a long duration of phototherapy increases the prevalence of developmental delay remains unclear.

DOI： 10.1007/s00431-022-04785-1

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Language：Japanese   Publisher：日本ダウン症療育研究会  

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Language：Japanese   Publisher：(一社)日本疫学会  

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Language：Japanese   Publisher：(一社)日本疫学会  

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Language：English   Publishing type：Research paper (scientific journal)  

BACKGROUND AND AIMS: Unhealthy eating behaviors, including eating fast, eating after satiety, skipping breakfast, and eating out are common among men aged 20-39 years. In this cross-sectional study, we aimed to examine the association between self-reported eating habits and the prevalence of dyslipidemia. METHODS: The participants of this study were 38,233 men aged 20-39 years, whose food consumption frequency related information was collected through a questionnaire. Dyslipidemia was defined as total cholesterol (TC) ≥190 mg/dL, fasting triglyceride (TG) ≥150 mg/dL and non-fasting TG ≥175 mg/dL, high-density lipoprotein cholesterol (HDL-C) <40 mg/dL, low-density lipoprotein cholesterol (LDL-C) ≥140 mg/dL. Odds ratios (ORs) and 95% confidence intervals were calculated relative to healthy eating habits using logistic regression, after adjustment for age, study unit, and other potential confounding factors. RESULTS: Moderate and fast speeds were associated with a higher prevalence of reduced HDL-C (by 27% and 26%, respectively) compared to slow speeds. Eating after satiety was associated with a higher prevalence of elevated TC (by 16%) and elevated TG (by 11%), elevated LDL-C (by 21%). Breakfast eating of 1-4 times/week and <1 time/week were associated with a higher prevalence of elevated TC (by 11% and 16%, respectively) and elevated LDL-C (by 21% and 38%, respectively) compared to that of ≥5 times/week. Eating out of ≥5 times/week was associated with a 13% higher prevalence of elevated TG. CONCLUSIONS: All of four unhealthy eating habits were associated with a higher prevalence of dyslipidemia in men aged 20-39 years.

DOI： 10.1265/ehpm.23-00008

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Language：English   Publishing type：Research paper (scientific journal)  

INTRODUCTION: Currently, the association between the duration of neonatal phototherapy and the risk of allergic disorders has not been reported. This observational cohort study aimed to examine the association between allergic disorders, including food allergies, that are present before 3 years of age and the duration of phototherapy using the nationwide birth cohort data. METHODS: The Japan Environment and Children's Study was a nationwide birth cohort study. Data of 77,064 infants aged 1 year, 1.5 years, 2 years, and 3 years were analyzed. We divided the participants into three groups: no phototherapy, short phototherapy (1-24 h), and long phototherapy (>24 h) and evaluated the cumulative incidence of allergic disorders before 3 years of age, including asthma, atopic dermatitis, and food allergies. Logistic regression analysis was performed to assess the impact of phototherapy duration on the cumulative incidence of allergic disorders. RESULTS: After adjustment for potential risk factors, long phototherapy was found to be positively associated with food allergies at age 2 years (OR: 1.16; 95% CI: 1.01-1.33) and all allergic disorders at age 3 years (OR: 1.12; 95% CI: 1.01-1.24), including food allergies (OR 1.18; 95% CI: 1.04-1.35). CONCLUSION: A long duration of neonatal phototherapy was positively associated with the risk of allergic disorders, especially food allergies.

DOI： 10.1159/000527381

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OBJECTIVES: To investigate the association between stage 1 hypertension, defined as systolic blood pressure (BP) of 130-139 mmHg or diastolic BP of 80-89 mmHg, in the first and second trimesters and the risk of adverse pregnancy outcomes. STUDY DESIGN: We analyzed 79,249 singleton pregnancies from a nationwide birth cohort study. BP in the first and second trimesters was classified into normal, elevated, stage1 hypertension, and stage 2 hypertension. We examined the risk of adverse pregnancy outcomes in each group using multivariable logistic regression analysis. We also investigated the influence of BP changes between the first and second trimesters on adverse pregnancy outcomes. MAIN OUTCOME MEASURES: Overall preterm birth (PTB < 37 weeks), early PTB (<34 weeks), and small for gestational age (SGA). RESULTS: Stage 1 hypertension in the first trimester was associated with increased risks of overall PTB (aOR, 1.23; 95 %CI, 1.08-1.39), early PTB (aOR, 1.38; 95 %CI, 1.07-1.79), and SGA (aOR, 1.19; 95 %CI, 1.04-1.36) compared to normal BP. These risks were more evident in the second trimester; overall PTB (aOR, 1.87; 95 %CI, 1.64-2.14), early PTB (aOR, 2.21; 95 %CI, 1.69-2.87), and SGA (aOR, 1.38; 95 %CI, 1.18-1.62). The risk of PTB was higher among women with an upward BP trajectory between the first and second trimesters. CONCLUSIONS: Stage 1 hypertension in the first and second trimesters was associated with increased risks of overall PTB, early PTB, and SGA. Monitoring the BP trajectory for stage 1 hypertension may be useful for identifying high-risk groups.

DOI： 10.1016/j.preghy.2022.11.002

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AIM: To evaluate the pregnancy outcomes of preterm premature rupture of membranes (preterm PROM; PPROM) by gestational age. METHODS: This cohort study analyzed data from the Japan Environment and Children's Study. Pregnancy outcomes were documented using descriptive statistics. Logistic regression was used to estimate the odds ratios (ORs) and 95% confidence intervals (CIs) of complications. RESULTS: Data were collected for 104 062 fetuses, and 99 776 were eligible for inclusion. The incidences of early (18-23 weeks) and late (24-36 weeks) PPROM were 0.1% (n = 102) and 1.2% (n = 1205), respectively. Of the 1307 cases, 66 (5.0%) resulted in miscarriage or stillbirth. Overall, 85.6% (1119/1307) resulted in preterm births, and 9.3% (122/1307) in term births. There was a higher incidence of oligohydramnios (OR 6.82, 95% CI 4.07, 11.4; OR 2.42, 95% CI 1.72, 3.40), intrauterine infection (OR 11.9, 95% CI 7.06, 19.9; OR 4.39, 95% CI 3.01, 6.41), cesarean delivery (OR 3.31, 95% CI 2.32, 4.71; OR 1.34, 95% CI 0.97, 1.85), placental abruption (OR 5.57, 95% CI 2.30, 13.5; OR 5.40, 95% CI 3.58, 8.14), and 5-min Apgar score <7 (OR 35.3, 95% CI 21.5, 57.9; OR 2.66, 95% CI 1.75, 4.05) for early and late, compared to no, PPROM, respectively. Miscarriage or stillbirth was higher in early (OR 5.84, 95% CI 3.72, 9.15) and lower in late (OR 0.21, 95% CI 0.06, 0.68) compared to those without PPROM. CONCLUSIONS: This study described the epidemiology of pregnancy outcomes of early (occurring at the limit of viability) and late PPROM.

DOI： 10.1111/jog.15388

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BACKGROUND: It is unclear if gestational weight gain (GWG) increases the risk of children with overweight. OBJECTIVES: We examined the association between GWG and the risk of overweight in 3-year-old children in the Japanese nationwide birth cohort study. METHODS: Among 64 336 singleton births, we calculated the risk ratios (RRs) and 95% confidence intervals (95% CIs) of the association between GWG categories and children with overweight, following an adjustment of the confounding variables. RESULTS: GWG was positively associated with the risk of overweight among 3-year-old children. The multivariable RR (95% CI) was 1.21 (1.17-1.25) per 5 kg increase of the GWG. The multivariable RR (95% CI) for excessive GWG was 1.20 (1.12-1.28) and 1.27 (1.16-1.39) based on the modified Japanese and IOM criteria, respectively, compared to adequate GWG. The multivariable RR (95% CI) of overweight with children for inadequate versus adequate GWG was 0.83 (0.78-0.88) and 0.84 (0.79-0.89) based on the modified Japanese and IOM criteria, respectively. CONCLUSIONS: GWG was positively associated with a high risk of overweight at 3 years of age. The risk of offspring overweight was 20%-27% higher and 16%-17% lower with excessive GWG and inadequate GWG, respectively, compared to adequate GWG, based on the aforementioned criteria.

DOI： 10.1111/ijpo.12978

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This study aimed to evaluate the association of neonatal transfer with the risk of neurodevelopmental outcomes at 3 years of age. Data were obtained from the Japan Environment and Children's Study. A general population of 103,060 pregnancies with 104,062 fetuses was enrolled in the study in 15 Regional Centers between January 2011 and March 2014. Live-born singletons at various gestational ages, including term infants, without congenital anomalies who were followed up until 3 years were included. Neurodevelopmental impairment was assessed using the Ages and Stages Questionnaire, third edition (ASQ-3) at 3 years of age. Logistic regression was used to estimate the adjusted risk and 95% confidence interval (CI) for newborns with neonatal transfer. Socioeconomic and perinatal factors were included as potential confounders in the analysis. Among 83,855 live-born singletons without congenital anomalies, 65,710 children were studied. Among them, 2780 (4.2%) were transferred in the neonatal period. After adjustment for potential confounders, the incidence of neurodevelopmental impairment (scores below the cut-off value of all 5 domains in the ASQ-3) was higher in children with neonatal transfer compared with those without neonatal transfer (communication: 6.5% vs 3.5%, OR 1.42, 95% CI 1.19-1.70; gross motor: 7.6% vs 4.0%, OR 1.26, 95% CI 1.07-1.49; fine motor: 11.3% vs 7.1%, OR 1.19, 95% CI 1.03-1.36; problem solving: 10.8% vs 6.8%, OR 1.29, 95% CI 1.12-1.48; and personal-social: 6.2% vs 2.9%, OR 1.52, 95% CI 1.26-1.83).   Conclusion: Neonatal transfer was associated with a higher risk of neurodevelopmental impairment at 3 years of age. What is Known: • Neonatal transfer after birth in preterm infants is associated with adverse short-term outcomes. • Long-term outcomes of outborn infants with neonatal transfer in the general population remain unclear. What is New: • This study suggests that neonatal transfer at birth is associated with an increased risk of neurodevelopmental impairment. • Efforts for referring high-risk pregnant women to higher level centers may reduce the incidence of neonatal transfer, leading to improved neurological outcomes in the general population.

DOI： 10.1007/s00431-022-04450-7

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Menke-Hennekam syndrome-1 (MKHK1) is a congenital disorder caused by the heterozygous variants in exon 30 or 31 of CREBBP (CREB binding protein) gene mapped on 16p13.3. It is characterized by psychomotor delay, variable impairment of intellectual disability (ID), feeding difficulty, autistic behavior, hearing impairment, short stature, microcephaly, and facial dysmorphisms. The CREBBP loss-of-function variants cause Rubinstein-Taybi syndrome-1 (RSTS1). The function of CREBBP leading to MKHK1 has not been clarified so far, and the phenotype of MKHK1 significantly differs from that of RSTS1. We examined six patients with de novo pathogenic variants affecting the last exon of CREBBP, and they shared the clinical features of MKHK1. This study revealed that one frameshift and three nonsense variants of CREBBP cause MKHK1, and inferred that the nonsense variants of the last exon could further help in the elucidation of the etiology of MKHK1.

DOI： 10.1002/ajmg.a.62533

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Authorship：Lead author   Language：English   Publishing type：Research paper (scientific journal)   Publisher：Springer Science and Business Media LLC  

<title>Abstract</title>Lessel et al. reported a novel neurodevelopmental disorder with severe motor impairment and absent language (NEDMIAL) in 12 individuals and identified six different de novo heterozygous missense variants in <italic>DHX30</italic>. The other clinical features included muscular hypotonia, feeding difficulties, brain anomalies, autistic features, sleep disturbances, and joint hypermobility. We report a Japanese adult with a novel missense variant and two girls with de novo missense variants in <italic>DHX30</italic>.

DOI： 10.1038/s41439-021-00155-9

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Other Link： http://www.nature.com/articles/s41439-021-00155-9

Authorship：Lead author   Publishing type：Research paper (scientific journal)   Publisher：Frontiers Media SA  

Inclusive early childhood intervention provides opportunities for children with disabilities to receive education with typically developing children. The present study examined the effects of the AI-AI STEP Program, which is designed to help nursery teachers learn the methods of inclusive early childhood intervention for children with disabilities. This study involved 37 managers of 37 nursery schools in Japan, 48 nursery teachers, and 48 children with disabilities. The school managers, who had previously learned about the program through a seminar we offered, provided the nursery teachers with guidance on the program. The guidance provided to the nursery teachers consisted of combined structured explanations with a manual and on-the-job training. The program was performed for 6 months, and changes in the children's development and behavior and the school nursery teachers' self-efficacy and state-trait anxiety, were examined before and after using the program. Multivariate analysis was used to assess factors that had an effect on the children's developmental gains through the program. The developmental quotient of children significantly improved. In addition, “emotional symptoms” and “peer problems” on the Strengths and Difficulties Questionnaire subscale markedly improved. The self-efficacy of nursery teachers significantly improved, and state anxiety decreased. There was a significant relationship between the improvement of the children's development quotient and a lower development quotient at baseline. The provision of inclusive early childhood intervention using the program promoted the children's development, and improved their behavior. Furthermore, it had a positive effect on the nursery teachers.

DOI： 10.3389/fresc.2021.759932

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Language：Japanese   Publisher：(地独)大阪府立病院機構大阪母子医療センター  

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Language：English   Publishing type：Research paper (scientific journal)   Publisher：Wiley  

Hypotonia, ataxia and delayed development syndrome (HADDS) (MIM#617330) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in EBF3 (MIM; 607,407), which is located on chromosome 10q26, and was first reported in 2017. To date, missense, nonsense and frameshift variants have been reported as causes of HADDS, and EBF3 pathogenic variants have been predicted to result in nonsense-mediated mRNA decay and haploinsufficiency. It was also reported that total deletion of EBF3 associated with a 10q26.3 microdeletion also causes HADDS symptoms, supporting the concept that HADDS results from haploinsufficiency of EBF3. Here, we report eight unrelated individuals with heterozygous pathogenic variants of EBF3 or haploinsufficiency of EBF3 due to 10q26 deletion, who exhibit clinical findings including craniofacial features of HADDS. In a detailed examination of clinical manifestations in this study, revealed that neurogenic bladder was diagnosed in infancy (the median 6.5 months), was more frequent than previously reported, and required cystostomy in all but one case. For psychomotor delay, it was also found that their motor/skills values were significantly lower than their cognition/adaptation values (p = 0.0016; paired t-test). Therefore, that HADDS is a recognizable syndrome that shares its characteristic facial features, and that neurogenic bladder diagnosed in infancy and psychomotor delay with marked delay in motor/skills are noteworthy findings in the diagnosis and management of individuals with HADDS.

DOI： 10.1002/ajmg.a.62369

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Other Link： https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.a.62369

Authorship：Lead author   Language：English   Publishing type：Research paper (scientific journal)   Publisher：Wiley  

Angelman syndrome is a neurodevelopmental disorder characterized by intellectual disability (ID), a distinctive gait pattern, abnormal behaviors, severe impairment in language development, and characteristic facial features. Most cases are caused by the absence of a maternal contribution to the imprinted region on chromosome 15q11-q13. Here, we present the first reported case of a 3-year-old boy with an atypical phenotype of Angelman syndrome due to uniparental isodisomy with two recessive homozygous pathogenic variants: in HERC2 and AP3B2. Known phenotypes related to HERC2 and AP3B2 include ID and early infantile epileptic encephalopathy, respectively. The patient had severe global developmental delay and profound ID and showed a happy demeanor, stereotypic laughter, and hand-flapping movements, but also irritability. Craniofacial dysmorphic features, including brachycephaly, strabismus, wide ala nasi, short philtrum, wide open mouth, and slight hypopigmentation were seen. Progressive microcephaly was noted. Magnetic resonance imaging of the brain showed delayed myelination and cerebral atrophy. Trio whole exome sequencing and CGH-SNP array analysis revealed paternal uniparental isodisomy of chromosome 15 and two coexisting recessive diseases resulting from homozygous HERC2 and AP3B2 pathogenic variants. The pathogenic variant in HERC2 was inherited from his heterozygous-carrier father, and the variant in AP3B2 was de novo. We suppose that these unusual features were the combination of the effect of three concomitant disorders.

DOI： 10.1002/ajmg.a.62371

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Other Link： https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.a.62371

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BACKGROUND: Both short and long interpregnancy intervals (IPIs) have been associated with risk of preterm birth, but the evidence is limited in Asians. It is also uncertain whether the association is modified by dietary folate intake or folic acid supplementation during pregnancy. Thus, we examined associations between IPI and risk of preterm birth, and effect modification of those associations by dietary intake of folate and supplementation with folic acid on the basis of a nationwide birth cohort study. METHODS: Among 103,062 pregnancies registered in the Japan Environment and Children's Study, 55,203 singleton live-birth pregnancies were included in the analysis. We calculated IPI using birth date, gestational age at birth of offspring, and birth data of the latest offspring. Odds ratios (ORs) and 95% confidence intervals (CIs) of the risk of preterm birth were estimated according to IPI categories. RESULTS: Both <6-month and ≥120-month IPIs were associated with an increased risk of preterm birth, compared with an 18-23-month IPI. The multivariable ORs were 1.63 (95% CI, 1.30-2.04) for <6-month and 1.41 (95% CI, 1.11-1.79) for ≥120-month IPIs. These associations were confined to women with inadequate intake of dietary folate and folic acid supplementation during pregnancy. Multivariable ORs were 1.76 (95% CI, 1.35-2.29) for <6-month IPI and 1.65 (95% CI, 1.24-2.19) for ≥120-month IPI. CONCLUSION: Both <6-month and ≥120-month IPIs were associated with an increased risk of preterm birth. These higher risks were confined to women with inadequate intake of dietary folate and folic acid supplementation during pregnancy.

DOI： 10.2188/jea.JE20210031

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BACKGROUND: Intervention studies have shown that isoflavone treatment improved glucose metabolism, indicating that soy intake may have a potential role in diabetes prevention. OBJECTIVES: We aimed to investigate the prospective association of soy isoflavone and soy food intakes with incidence of gestational diabetes mellitus (GDM) in a birth cohort study. METHODS: We recruited 97,454 pregnant women (median gestational age 12 weeks) between January 2011 and March 2014. Dietary intakes during the 12 months preceding study enrollment were assessed by a semi-quantitative food frequency questionnaire. The relative risks of GDM associated with soy isoflavone and soy food intakes were obtained by Poisson regression. Demographic information, histories of diseases, socioeconomic status, lifestyles, and dietary habits, obtained by a self-administrated questionnaire, were used for covariate adjustments. RESULTS: We identified 1904 cases of GDM (2.2%) among 84,948 women. Compared with those in the lowest quintile of soy isoflavone intake, women in the highest quintile were found to have experienced a significantly lower risk of GDM (multivariate relative risk = 0.82; 95% confidence interval: 0.70, 0.95; P for trend = 0.05). Similar results were observed for genistein and daidzein. Regarding soy foods, intakes of miso soup and natto were inversely associated with GDM incidence (both P for trend ≤ 0.01), whereas the association for tofu intake appeared to be nonlinear (P for trend = 0.74). CONCLUSIONS: Higher intakes of miso soup and natto before and during early pregnancy, compared with lower intakes, may be associated with a lower incidence of GDM.

DOI： 10.1007/s00394-020-02294-1

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There is little evidence linking eating speed to gestational diabetes mellitus (GDM) incidence. We therefore aimed to evaluate the prospective association of eating speed with GDM incidence. Overall, 97,454 pregnant women were recruited between January 2011 and March 2014. Singleton pregnant women who did not have GDM, heart disease, stroke, cancer, type 1 diabetes, and/or type 2 diabetes at the time of study enrollment were eligible. Each woman was asked about her eating speed at that time via a questionnaire. Odds ratios of GDM in relation to eating speed were obtained using logistic regression. Among the 84,811 women eligible for analysis, 1902 cases of GDM were identified in medical records. Compared with women who reported slow eating speed, the age-adjusted odds ratios (95% confidence interval) of GDM for women who reported medium, relatively fast, or very fast eating speed were 1.03 (0.90, 1.18), 1.07 (0.94, 1.23), and 1.28 (1.05, 1.58), respectively. Adjustment for demographic, lifestyle-related, and dietary factors including dietary fat, dietary fiber, and energy intakes yielded similar results. The association was attenuated and no longer significant after further adjustment for pre-pregnancy body mass index. The mediation analysis showed that being overweight accounted for 64% of the excess risk of GDM associated with eating speed. In conclusion, women who reported very fast eating speed, compared with those reporting slow eating speed, were associated with an increased incidence of GDM, which may be largely mediated by increased body fat.

DOI： 10.3390/nu12051296

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BACKGROUND: There is little evidence linking breakfast skipping to the incidence of gestational diabetes mellitus (GDM). OBJECTIVES: We aimed to evaluate the prospective association of breakfast consumption with the incidence of GDM. METHODS: A total of 103,099 pregnancies were registered during study enrollment (January 2011 to March 2014), involving 97,454 pregnant women from 15 areas across Japan. Singleton pregnant women free of GDM, stroke, heart disease, cancer, and type 1 or type 2 diabetes at the study enrollment were eligible for analysis. We used a self-administered questionnaire to obtain data on demographic information, socioeconomic status, self-rated health status, disease history, lifestyle, and dietary habits of each woman at study enrollment. A semiquantitative FFQ was used for dietary assessment. We used logistic regression to obtain the OR of GDM in relation to breakfast consumption. RESULTS: Among 84,669 pregnant women for analysis, 1935 cases of GDM were documented. After adjustment for potential confounding factors including prepregnancy BMI, the multivariable-adjusted ORs of GDM for women who consumed breakfast 5-6 times/wk, 3-4 times/wk, and 0-2 times/wk were 1.09 (95% CI: 0.93, 1.27), 1.14 (95% CI: 0.96, 1.34), and 1.21 (95% CI: 1.05, 1.41), respectively, compared with daily breakfast eaters. The association appeared to be dose dependent (P-trend = 0.006) and was not significantly modified by prepregnancy BMI. CONCLUSIONS: Breakfast consumption <3 times/wk before and during early pregnancy, compared with daily consumption, was associated with an increased odds of developing GDM.

DOI： 10.1093/ajcn/nqaa014

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INTRODUCTION: Previous studies in Western countries have examined the association between prenatal smoking and risk for Postpartum depression (PPD). However, evidence from Japan is lacking, despite the high prevalence of smoking among pregnant women. Therefore, we examined the association between prenatal smoking and PPD among pregnant Japanese women. METHODS: We analyzed data for up to 1 month after childbirth from the Japan Environment and Children's Study (JECS), a nationwide birth cohort study. Among the 103,070 pregnant women recruited, 80,872 eligible participants were included in the analysis. PPD was defined as a score of ≥9 on the Edinburgh Postnatal Depression Scale (EPDS). Prenatal smoking and length of smoking cessation among ex-smokers were obtained using self-administered questionnaires at second/third trimester. RESULTS: Among 80,872 pregnant women, 9.0% reported PPD. Multivariable-adjusted odds ratios (OR) (95% confidence intervals) for PPD (reference: never smoked) were 1.24 (1.12-1.37) for women who quit smoking after becoming pregnant, and 1.38 (1.21-1.56) for those who smoked during pregnancy. Compared with women who had never smoked, those who quit smoking ≤5 years before childbirth had a higher occurrence of PPD, with a multivariable-adjusted OR of 1.10 (1.00-1.22). LIMITATIONS: Questionnaire data was self-reported by participants, thus smoking status might be under-reported. CONCLUSIONS: Women who smoked during pregnancy, quit smoking after becoming pregnant, and quit smoking ≤5 years before childbirth are more likely to experience PPD than those who had never smoked.

DOI： 10.1016/j.jad.2019.11.145

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The purpose of the present study was to investigate associations of dietary intake including vitamin D, folate, and n-3 and n-6 polyunsaturated fatty acids (PUFA) in pregnant women with broad autism phenotype (BAP). The Japan Environment and Children's Study is a government-funded birth cohort study. All complete data of 92,011 were analyzed. The Japanese version of the Autism Spectrum Quotient was used to assess mothers' BAP level, and a food frequency questionnaire was used to estimate their dietary intake. Mothers with BAP consumed less vegetables, fruits, and fish and shellfish, and they consumed lower folate, vitamin C, vitamin D, and n-3 PUFA than their counterparts. Dietary intervention should be considered for pregnant women with high BAP scores.

DOI： 10.1007/s10803-020-04380-z

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BACKGROUND: Recently, the concept of "family-centered" practice was integrated into early intervention programs in Japan. Services provided through early intervention can result in beneficial family outcomes. We previously validated the Family Outcomes Survey-Revised (FOS-R) for use in Japan, but the impact on families was not evaluated. OBJECTIVES: To evaluate potential impacts of early intervention on family outcomes and factors associated with outcome attainment. METHOD: An anonymous, self-administered questionnaire was given to mothers of pre-school-age children with disabilities who were currently receiving early intervention at one of 12 development support centers across Japan. We evaluated scores of the Japanese version of the FOS-R using multivariable random effect models. RESULTS: Data from a total of 394 mothers were analyzed. Longer duration of early intervention was positively associated with family outcomes (<12 mo vs. 12-23 mo; coefficient = 0.19, p = .02, 95% CI: 0.02, 0.36). Perceived helpfulness of early intervention was significantly associated with family outcomes (coefficient = 0.49, p < .001, 95% CI: 0.42, 0.55). CONCLUSIONS: This study suggests that early intervention is associated with better outcomes for families, especially for families who perceive early intervention as helpful.

DOI： 10.1016/j.dhjo.2019.100832

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The association of chocolate consumption with risk of gestational diabetes has not been examined. We aimed to investigate the prospective association between chocolate consumption and risk of gestational diabetes in a large birth cohort in Japan. A total of 97 454 pregnant women with a median gestational age of 12 weeks were recruited from January 2011 to March 2014. Data on demographic information, disease history, socio-economic status, lifestyle and dietary habits were obtained at the study enrolment. Dietary intake during the past 12 months before study enrolment was assessed through a semi-quantitative FFQ. The logistic regression was used to obtain the OR of gestational diabetes in relation to chocolate consumption. Among 84 948 women eligible for the analysis, 1904 cases of gestational diabetes (2·2 %) were identified during the period of pregnancy. After controlling for potential confounding factors including age, smoking status, drinking status, education level, occupation, pre-pregnant BMI, depression, previous history of macrosomia babies, parity, physical activity and dietary factors, women in the highest quartile of chocolate consumption, compared with those in the lowest quartile, had a significantly lower risk of developing gestational diabetes (OR 0·78, 95 % CI 0·67, 0·90; P for trend = 0·002). Stratified analyses suggested that the association was not significantly modified by pre-pregnancy BMI, age, parity, smoking status or drinking status. The present prospective cohort study provided evidence that chocolate consumption was associated with a significant lower risk of gestational diabetes in Japanese women.

DOI： 10.1017/S0007114519001806

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BACKGROUND: The human GATA zinc finger domain containing 2B (GATAD2B) encodes a subunit of the MeCP1-Mi-2/nucleosome remodeling and deacetylase complex, which is involved in chromatin modification and transcription. Recently, patients with severe intellectual disabilities and characteristic features associated with GATAD2B mutations have been identified. CASE REPORT: The patient was a 4-year-old male with dysmorphic features, including frontal bossing, hypertelorism, epicanthal folds, down-slanting palpebral fissures, a flat nasal bridge, a high arched palate, and micrognathia. He spoke no meaningful words and exhibited severe intellectual disability. Hypermetropic astigmatism and mild spasticity of the lower extremities were noted. Whole-exome sequencing revealed a de novo missense mutation in GATAD2B (NM_020699:exon4:c.502C>T; p.(Glu168∗)). CONCLUSION: We report a novel GATAD2B mutation in a boy exhibiting bilateral leg spasticity and white matter abnormalities on brain magnetic resonance imaging.

DOI： 10.1016/j.braindev.2018.10.003

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BACKGROUND: Broader autism phenotype (BAP) refers to the expression of behavioral and cognitive dispositions similar to autism spectrum disorder. The present study investigated whether mothers' BAP was prospectively associated with maternal attachment, and if postpartum depression modified this association. METHODS: The Japan Environment and Children's Study (JECS) is a national and government-funded birth cohort study that began in January 2011. Among the 103,099 mothers enrolled, 87,369 mothers without a history of depression were included in the analysis. Self-administered questionnaires were used. These included: the Japanese version of the Autism Spectrum Quotient, the Mother to Infant Bonding Scale, and the Edinburgh Postnatal Depression Scale. Logistic regression analyses were performed. RESULTS: The BAP during the second or third trimester of pregnancy was linearly associated with an increased risk of postpartum depression and insecure maternal attachment when infants were one month old (p for trend < 0.001), after adjusting for confounding variables. When stratified by postpartum depression, among the BAP subscales, deficiencies in social skills and communication were associated with an increased risk of insecure maternal attachment in mothers without postpartum depression. The relationships between the BAP subscales and maternal attachment were attenuated among mothers with postpartum depression. LIMITATIONS: Only five items of the Mother to Infant Bonding Scale were used in the present study, and thus the results should be interpreted with caution. CONCLUSIONS: Mothers' BAP was predictive of insecure maternal attachment toward their infant. Postpartum depression partially moderated the associations between mothers' BAP and insecure maternal attachment.

DOI： 10.1016/j.jad.2018.09.060

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Authorship：Lead author   Language：Japanese   Publisher：(一社)日本小児神経学会  

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Other Link： https://search.jamas.or.jp/index.php?module=Default&action=Link&pub_year=2018&ichushi_jid=J01232&link_issn=&doc_id=20180706280012&doc_link_id=%2Fcl1nohat%2F2018%2F005004%2F016%2F0295-0297%26dl%3D0&url=http%3A%2F%2Fwww.medicalonline.jp%2Fjamas.php%3FGoodsID%3D%2Fcl1nohat%2F2018%2F005004%2F016%2F0295-0297%26dl%3D0&type=MedicalOnline&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00004_2.gif

Authorship：Lead author   Language：Japanese   Publisher：(公社)日本小児科学会  

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RASopathies are phenotypically overlapping genetic disorders caused by dysregulation of the RAS/mitogen-activated protein kinase (MAPK) signaling pathway. RASopathies include Noonan syndrome, cardio-facio-cutaneous (CFC) syndrome, Costello syndrome, Neurofibromatosis type 1, Legius syndrome, Noonan syndrome with multiple lentigines, Noonan-like syndrome, hereditary gingival fibromatosis, and capillary malformation/arteriovenous malformation syndrome. Recently, six patients with craniosynostosis and Noonan syndrome involving KRAS mutations were described in a review, and a patient with craniosynostosis and Noonan syndrome involving a SHOC2 mutation has also been reported. Here, we describe patients with craniosynostosis and Noonan syndrome due to de novo mutations in PTPN11 and patients with craniosynostosis and CFC syndrome due to de novo mutations in BRAF or KRAS. All of these patients had cranial deformities in addition to the typical phenotypes of CFC syndrome and Noonan syndrome. In RASopathy, patients with cranial deformities, further assessments may be necessary to look for craniosynostosis. Future studies should attempt to elucidate the pathogenic mechanism responsible for craniosynostosis mediated by the RAS/MAPK signaling pathway.

DOI： 10.1002/ajmg.a.38337

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Authorship：Lead author   Language：Japanese   Publisher：(一財)厚生労働統計協会  

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Authorship：Lead author   Language：Japanese   Publisher：(公社)日本小児保健協会  

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DOI： 10.1016/j.ejmg.2015.05.002

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According to a revision of Japan's Basic Law for Persons with Disabilities in 2011, Article 17 stipulated the government's obligation to provide early intervention to children with disabilities. However, the concept of family outcomes in early intervention has not really been considered in Japan yet. This article describes the development and validation of the Japanese version of the Family Outcomes Survey Revised (FOS-R). Our goal was to determine whether this survey for assessing how families of children with disabilities are affected by early intervention would be appropriate for use in early intervention in Japan. Both the Japanese version of the FOS-R and an anonymous, self-administered questionnaire about background factors were given to 394 mothers of children who were either currently using or had in the past year used early intervention at an early intervention facility or medical institution. Survey responses were obtained from 335 mothers (response rate of 85.0%). The total number of subjects in the analysis was 301 mothers who answered the Japanese version of the FOS-R completely. To assess content validity, another survey was given to 115 experts involved in supporting children with disabilities and their families. The family outcomes indicator items as well as the helpfulness indicators items showed good psychometric properties. Although the components of the FOS-R worked better as individual subscales than as a single scale, we confirmed that a total score was also psychometrically valid. We also confirmed both content validity and external validity. The Japanese version of the FOS-R appears to be a valid tool for assessing the benefits experienced by families as a result of services received, but further research is needed to determine the nature of practices most likely to lead to positive family outcomes.

DOI： 10.1016/j.ridd.2015.01.003

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Authorship：Lead author   Language：Japanese   Publisher：(公社)日本小児保健協会  

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Authorship：Lead author   Language：Japanese   Publisher：(一財)厚生労働統計協会  

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Language：Japanese   Publisher：(NPO)日本小児循環器学会  

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Authorship：Lead author   Language：Japanese   Publisher：日本公衆衛生学会  

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DOI： 10.11236/jph.61.2_93

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Language：Japanese   Publisher：(地独)大阪府立病院機構大阪母子医療センター  

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Early intervention and disability services in Japan historically have focused on supporting the individual with a disability, with only secondary attention to family needs and priorities. Since the Basic Law for Persons with Disabilities was codified in 2011, the Japanese government has been responsible for supporting families with members who have disabilities. To assess the needs of these families, we evaluated the reliability and validity of the Family Needs Survey (FNS), initially developed in 1988 (Bailey & Simeonsson), to determine its usefulness for programs providing services for Japanese families who have a child with a disability. The FNS is a practical tool to assess family needs and is already used across many different cultures and populations. To evaluate the reliability and validity of the FNS, we conducted an anonymous survey with a self-administered questionnaire at 6 treatment and education institutions, 3 medical institutions mainly for children with disabilities, and 39 special needs schools in the Osaka area. We analyzed 1171 parents' survey responses: 452 fathers and 719 mothers of children with disabilities aged 0-15 years old who answered all items on the Japanese version of the FNS. Another survey was administered to 130 specialists who work with children with disabilities to assess the content validity of the Japanese version of the FNS. We verified the factor structure, content validity, and reliability of the Japanese version of the FNS as an assessment tool with 34 items among four factors that were based on the same items in the original FNS. The assessment could be used for families with school-age children as well as younger children, in contrast to the original version, which is not appropriate for school-age children. We also confirmed that it could be used without regard to type or degree of disability.

DOI： 10.1016/j.ridd.2013.07.024

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Authorship：Lead author   Language：Japanese   Publisher：(一財)厚生労働統計協会  

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Language：Japanese   Publisher：(一社)日本周産期・新生児医学会  

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Authorship：Lead author   Language：Japanese   Publisher：(地独)大阪府立病院機構大阪母子医療センター  

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Authorship：Lead author   Language：Japanese   Publisher：日本遺伝カウンセリング学会  

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Authorship：Lead author   Language：Japanese   Publisher：(公社)日本小児保健協会  

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Language：Japanese   Publisher：(地独)大阪府立病院機構大阪母子医療センター  

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Language：Japanese   Publisher：(地独)大阪府立病院機構大阪母子医療センター  

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Authorship：Lead author   Language：Japanese   Publisher：(地独)大阪府立病院機構大阪母子医療センター  

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Authorship：Last author   Language：Japanese   Publisher：(地独)大阪府立病院機構大阪母子医療センター  

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Authorship：Lead author   Language：Japanese   Publisher：(公社)日本小児科学会  

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Authorship：Lead author   Language：Japanese   Publisher：(地独)大阪府立病院機構大阪母子医療センター  

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Authorship：Lead author   Language：Japanese   Publisher：(公財)大阪成人病予防協会  

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The purpose of this study was to analyze socioeconomic differences in cervical and corpus cancer survival, and to investigate if the differences are due to differences in age, cancer stage, histology and treatment. A total of 14,055 cases with cervical cancer and 3,113 cases with corpus cancer were obtained from the Osaka Cancer Registry. Municipality-based SES measurements were obtained from the System of Social and Demographic Statistics. Survival analysis was carried out with Kaplan-Meier survival curves. Three types of Cox proportional hazards regression models were tested to assess survival differences among groups and effects of SES on survival, controlling for clinical factors. SES was related to age and cancer stage for cervical and corpus cancer patients, and histology for cervical cancer patients. Differences were observed in cumulative 5-year survival for cervical cancer patients among low, middle and high unemployment municipalities (68.9%, 64.3% and 50.9%, respectively, P<0.0001). Differences in cumulative 5-year survival for cervical cancer patients were also observed among high, middle and low education municipalities (65.1%, 62.2% and 56.1%, respectively, P<0.0001). Similar patterns in 5-year survival were also found for corpus cancer patients. After adjusting for age, cancer stage, histology and treatment, survival differences between patients from high and low SES areas still remained. In conclusion, our population-based analysis of a metropolitan representative sample in Japan has demonstrated, for the first time in Japan, SES differences in survival following cervical and corpus cancer.

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Cancer mortality is generally high in people of low socioeconomic status compared with people of high socioeconomic status (SES). Although these differences in mortality may be caused by differences in cancer incidence and survival, analysis of these factors has rarely been conducted. The objective of our cross-sectional ecological study was to analyze socioeconomic differences in cancer incidence, mortality and survival in a metropolitan area of Japan. The age-adjusted cancer incidence rates, age-adjusted mortality rates, relative 5-year survival, and proportions of early stage cancer were calculated for 67 municipalities in Osaka, Japan. For area-based socioeconomic variables, we used the percentages of male unemployment, college or graduate school graduates, home ownership, households receiving government assistance, and households below the subsistence habitation level in each municipality. We performed linear regression taking each municipality's population as weight to examine the relationships between measurements relating cancer and socioeconomic variables. Factor analysis of socioeconomic variables was carried out to determine whether a particular socioeconomic variable tended to be associated with another. Cancer incidence, cancer mortality, 5-year cancer survival, and proportion of early stage cancer were highly correlated with each socioeconomic variable at the municipality level. Five area-based socioeconomic variables could be explained by three factors: economic status, housing characteristics and educational attainment. Despite the major limitation of a lack of individual information about socioeconomic characteristics and outcomes related to cancer, we hypothesize that a municipal area's socioeconomic status might be a predictor of individual incidence, mortality, and survival of cancer.

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Authorship：Lead author   Language：Japanese   Publisher：(一社)日本トラウマティック・ストレス学会  

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DOI： 10.1016/S0140-6736(04)16970-5

Scopus

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Language：Japanese   Publisher：(株)星和書店  

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Authorship：Lead author   Language：Japanese   Publisher：(株)医学書院  

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Language：Japanese   Publisher：日本公衆衛生学会  

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Other Link： https://search.jamas.or.jp/index.php?module=Default&action=Link&pub_year=2003&ichushi_jid=J01074&link_issn=&doc_id=20031010180005&doc_link_id=10.11236%2Fjph.50.9_897&url=https%3A%2F%2Fdoi.org%2F10.11236%2Fjph.50.9_897&type=J-STAGE&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00007_3.gif

Language：Japanese   Publishing type：Research paper (scientific journal)  

PURPOSE: The purpose of this study was to offer insight into the revisions needed for promotion of Maternal and Child Health Promotion Plans in the coming years. METHODS: The maternal and child health promotion planning process and changes in maternal and child health services were surveyed by questionnaires to all municipalities in Japan. RESULTS: Completed questionnaires were obtained from 2,362 municipalities (response rate: 72.6%) Replies from 2,202 municipalities, which had completed planning by March, 1998, were analyzed. Planning committees were established by 63.9% of municipalities, and working committees were set up in 55.4% of them. Members involved in the working committees were more limited when compared to the planning committees and only 9.3% of the committees had representatives from mothers. 37.5% of working committees held meetings more than 5 times. 56.0% of municipalities conducted hearings or questionnaire surveys of mothers and health personnel for assessment of maternal and child healthcare needs. Most prefectural public health centers provided statistical data for planning assistance. Public health center staff participated as planning members in 38.5% of municipalities, and a training program for the planning sponsored by health centers was utilized by 33.8% of municipalities. Only 18.3% of municipalities received support for explanation of the plans to the mayor and/or executive officers, only 12.1% received support for the management of the planning committees, and only 11.8% received support for needs analysis. Less than half of minicipalities conducted PR activities of the plans and progress management. A higher proportion conducted these activities in larger cities. After the planning process, 72.9% of municipalities started new projects according to the plans. However, 10.1% scrapped one or more projects. Changes in maternal and child healthcare services and promotion of coordination with other related organization were seen more in municipalities with a larger population. There were major differences found between prefectures with regards to the planning process, including the support from public health centers, and the effective use of plan reports, progress management, and changes in maternal and child healthcare services after the formulation of plans.

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Authorship：Lead author   Language：Japanese   Publisher：(株)日本医事新報社  

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Authorship：Lead author   Language：Japanese   Publisher：(株)医学書院  

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BACKGROUND: Projecting individualized probabilities of developing breast cancer is needed for counseling and chemoprevention for Japanese women, in whom breast cancer incidence has been rapidly increasing. METHODS: We calculated individualized probabilities of developing breast cancer within 10-20 years and until life expectancy for Japanese women by multiplying the relative risk for each risk factor combination by the cumulative risk for the reference group. The risk factors used were age at menarche, age at first delivery, family history of breast cancer, and body mass index (BMI) (in post-menopausal women). The relative risk by menopausal status for each risk factor combination was estimated from a case control study conducted at Osaka Medical Center for Cancer and Cardiovascular Diseases (OMCC), Japan. The cumulative risk of breast cancer for the reference group within 10-20 years and until life expectancy was estimated to divide the corresponding cumulative risk for Japanese women by the weighted average of the relative risk. The weight is an expected proportion of those who have each risk factor combination among the general population. The cumulative risk for Japanese women was estimated using a data file from the Osaka Cancer Registry (OCR). RESULTS: We obtained cumulative risks for any age women within a certain range according to various risk factor combinations by menopausal state. For example, the highest risk group had about a 5 times higher risk probability of developing breast cancer than the general population at initial age 40, within 10-20 years, and until life expectancy. CONCLUSION: The cumulative risk of breast cancer varied according to individuals' risk factors among Japanese women. The availability of concrete individualized risk estimation figures will be of use to health care providers in encouraging Japanese women to seek counseling and to adopt self-control of body weight as a primary preventive measure, as well as to have breast cancer screening.

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Authorship：Lead author   Language：English   Publishing type：Research paper (scientific journal)  

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Authorship：Lead author   Language：English   Publishing type：Research paper (scientific journal)  

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Authorship：Lead author   Language：Japanese   Publisher：日本公衆衛生学会  

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Language：Japanese   Publisher：(公社)日本小児科学会  

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Language：Japanese   Publisher：(地独)大阪府立病院機構大阪急性期・総合医療センター  

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Language：Japanese   Publisher：日本小児腎不全学会  

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Authorship：Lead author   Language：Japanese   Publisher：(地独)大阪府立病院機構大阪急性期・総合医療センター  

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Authorship：Lead author   Language：Japanese   Publisher：(地独)大阪府立病院機構大阪急性期・総合医療センター  

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Total pages：vii, 133p   Language：Japanese  

CiNii Books

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Total pages：280   Language：Japanese  

CiNii Books

ASIN

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Total pages：337   Language：Japanese  

CiNii Books

ASIN

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Total pages：ix, 195p   Language：Japanese  

CiNii Books

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Language：Japanese   Publisher：(一社)日本遺伝カウンセリング学会  

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Language：Japanese   Publisher：日本公衆衛生学会  

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Language：Japanese   Publisher：(一社)日本遺伝カウンセリング学会  

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Language：Japanese   Publisher：日本公衆衛生学会  

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Language：Japanese   Publisher：日本公衆衛生学会  

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Language：Japanese   Publisher：大阪小児科学会  

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Language：Japanese   Publisher：日本遺伝カウンセリング学会  

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Language：Japanese   Publisher：(公社)日本小児保健協会  

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Language：Japanese   Publisher：日本公衆衛生協会-福島県支部  

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Language：Japanese   Publisher：(一社)日本衛生学会  

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Language：Japanese   Publisher：(公社)日本小児科学会  

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J-GLOBAL

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J-GLOBAL

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Language：Japanese   Publisher：日本公衆衛生学会  

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Language：Japanese   Publisher：日本公衆衛生学会  

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Language：Japanese   Publisher：日本公衆衛生学会  

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Language：Japanese   Publisher：日本公衆衛生学会  

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Language：Japanese   Publisher：(株)医学書院  

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Language：Japanese   Publisher：(公社)日本小児科学会  

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Language：Japanese   Publisher：(公社)日本小児科学会  

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Language：Japanese   Publisher：日本公衆衛生学会  

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Language：Japanese   Publisher：日本公衆衛生学会  

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Language：Japanese   Publisher：日本遺伝カウンセリング学会  

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Language：Japanese   Publisher：日本遺伝カウンセリング学会  

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Language：Japanese   Publisher：(公社)日本小児保健協会  

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Language：Japanese   Publisher：日本公衆衛生学会  

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Language：Japanese   Publisher：(公社)日本小児保健協会  

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Language：Japanese   Publisher：日本遺伝カウンセリング学会  

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Language：Japanese   Publisher：日本公衆衛生学会  

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Language：Japanese   Publisher：日本公衆衛生学会  

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Language：Japanese   Publisher：日本遺伝カウンセリング学会  

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Language：Japanese   Publisher：日本遺伝カウンセリング学会  

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Language：Japanese   Publisher：(地独)大阪府立病院機構大阪母子医療センター  

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Language：Japanese   Publisher：日本公衆衛生学会  

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Language：Japanese   Publisher：(公社)日本小児保健協会  

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Language：Japanese   Publisher：日本遺伝カウンセリング学会  

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Language：Japanese   Publisher：(一社)日本小児外科学会  

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Language：Japanese   Publisher：(一社)日本小児外科学会  

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Language：Japanese   Publisher：(公社)日本小児保健協会  

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Language：English   Publishing type：Research paper, summary (international conference)  

Web of Science

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Language：Japanese   Publisher：日本公衆衛生学会  

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Language：Japanese   Publisher：(公社)日本小児保健協会  

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Language：Japanese   Publisher：(公社)日本小児保健協会  

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Language：Japanese   Publisher：日本遺伝カウンセリング学会  

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Language：Japanese   Publisher：(地独)大阪府立病院機構大阪母子医療センター  

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Language：Japanese   Publisher：日本公衆衛生学会  

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Language：Japanese   Publisher：日本遺伝カウンセリング学会  

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Language：Japanese   Publisher：日本家族性腫瘍学会  

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Language：Japanese   Publisher：(公社)日本小児科学会  

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Language：Japanese   Publisher：(一社)日本新生児成育医学会  

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Language：Japanese   Publisher：日本公衆衛生学会  

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Language：Japanese   Publisher：日本公衆衛生学会  

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Language：Japanese   Publisher：日本公衆衛生学会  

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Language：Japanese   Publisher：日本公衆衛生学会  

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Language：Japanese   Publisher：日本公衆衛生学会  

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Language：Japanese   Publisher：(株)医学書院  

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Language：Japanese   Publisher：日本臨床死生学会  

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Language：Japanese   Publisher：日本健康教育学会  

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Language：Japanese   Publisher：眼科臨床医報会  

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