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AIM A feeling of isolation childcare mothers' face is a serious social problem in Japan because the relationships with mothers and local communities have grown sparser. The purpose of this study was to clarify the feelings of isolation of mothers during childcare and the factors related to it. METHODS We conducted a questionnaire survey in Yao City, Osaka. We mailed out a questionnaire survey of 1293 mothers with infants who had either a 4-month or 42-month routine health checkup during the period from September to December of 2018. RESULTS There was no association between "feeling lonely while raising my child" and the absence of "people who helped raise my children." On the other hand, it was found that the mothers' inner feelings, such as "I wasn't satisfied with my childcare environment" (OR: 2.55, 95% CI: 1.32-4.91, p = 0.0052) or "I lacked confidence in my own childcare abilities" (OR: 6.21, 95% CI: 4.31-8.95, p

Background: The COVID-imposed social isolation of Japanese mothers has significantly increased their already existing sense of loneliness. We report here on the changes that have occurred in the environment of home childcare and in the mother’s feelings of loneliness during the pandemic and we compare these findings with results from a similar previous study we conducted in 2019. Methods: In 2019, we conducted an online survey of mothers who had infants aged 4-12 months. Many of the survey questions at that time concerned the home childcare environment and the mother’s sense of loneliness. In 2020, during the height of this COVID pandemic, we conducted a follow-up COVID impact survey using the same questionnaire, of a different group mothers, again having infants of 4-12 months, to determine the impact of the pandemic on the mothers of extra-vulnerable young children. Results: The number of women who consulted with their friends or neighbors about childcare during the pandemic had decreased from the more normal times of early 2019, whereas in 2020 there was an increase in the number who consulted with their mother. The mother’s method of gathering childrearing information had shifted away from the face-to-face focus of 2019 to a habit of calling a municipal health center or using social-networking-services (SNS) as a reference. The rate was decreased of a mothers’ frequency of interaction with other parents having children at home as old as their own child. Overall, the number of mothers who felt loneliness was significantly increased. Conclusions: Because of the impact on mothers of the COVID pandemic, specifically around their methods of gathering information concerning childcare, we found that the child-rearing 3 environment in Japan has detrimentally changed since early 2019. Whether or not the mother felt stressed or felt they lacked sufficient information concerning childcare was associated with having an impact on the mother’s sense of loneliness. The importance of the appropriate transmission of information concerning childcare had increased due to this pandemic, so we need to take aggressive actions to help these mothers of small children to prevent harm and tragedies from occurring to the children in their care.

Astrocytes exert adverse effects on the brains of individuals with Down syndrome (DS). Although a neurogenic-to-gliogenic shift in the fate-specification step has been reported, the mechanisms and key regulators underlying the accelerated proliferation of astrocyte precursor cells (APCs) in DS remain elusive. Here, we established an isogenic cell line panel, based on DS-specific induced pluripotent stem cells, the XIST-mediated transcriptional silencing system in trisomic chromosome 21, and genome/chromosome-editing technologies to eliminate phenotypic fluctuations caused by genetic variation. The transcriptional responses of genes observed upon XIST induction and/or downregulation were not uniform, and only a small subset of genes showed a characteristic expression pattern, which is consistent with the proliferative phenotypes of DS APCs. Comparative analysis and experimental verification using gene modification revealed dose-dependent proliferation-promoting activity of DYRK1A and PIGP on DS APCs. Our collection of isogenic cell lines provides a comprehensive set of cellular models for DS investigations.

Chromosome abnormalities induces profound alterations in gene expression, leading to various disease phenotypes. Recent studies on yeast and mammalian cells have demonstrated that aneuploidy exerts detrimental effects on organismal growth and development, regardless of the karyotype, suggesting that aneuploidy-associated stress plays an important role in disease pathogenesis. However, whether and how this effect alters cellular homeostasis and long-term features of human disease are not fully understood. Here, we aimed to investigate cellular stress responses in human trisomy syndromes, using fibroblasts and induced pluripotent stem cells (iPSCs). Dermal fibroblasts derived from patients with trisomy 21, 18 and 13 showed a severe impairment of cell proliferation and enhanced premature senescence. These phenomena were accompanied by perturbation of protein homeostasis, leading to the accumulation of protein aggregates. We found that treatment with sodium 4-phenylbutyrate (4-PBA), a chemical chaperone, decreased the protein aggregates in trisomy fibroblasts. Notably, 4-PBA treatment successfully prevented the progression of premature senescence in secondary fibroblasts derived from trisomy 21 iPSCs. Our study reveals aneuploidy-associated stress as a potential therapeutic target for human trisomies, including Down syndrome.

Although recently published case reports suggest the significance of Jr(a) alloimmunization in the obstetric setting, the involved mechanism still remains unclear. Here we report a case of severe fetal and neonatal anemia associated with anti-Jr(a) alloimmunization, which was successfully managed using Doppler assessment of peak systolic velocity of the fetal middle cerebral artery (MCA-PSV). A Japanese woman with anti-Jr(a) (titer 1024) was referred to our department at 20 weeks' gestation. As fetal MCA-PSV exceeded 1.5 multiple of median, labor was induced and a female neonate of 1998 g was delivered vaginally at 33 weeks and 5 days of gestation. The infant's hematocrit and hemoglobin levels were 25.4% and 82 g/L, respectively, but her total bilirubin level (15 µmol/L; 0.9 mg/dL) and reticulocyte counts (4.5%) were low. During the course, the infant showed no apparent signs of hemolysis. Jr(a) alloimmunization should be recognized as a possible cause of fetal anemia with no direct hemolytic process.

The purpose of the present study was to evaluate the prognostic factors and review the outcome of primary isolated fetal ascites. A retrospective cohort study was conducted for fetuses with primary isolated ascites with a prenatal diagnosis between 1994 and 2009. The patients were divided into the favorable group (Group I) whose ascites were resolved by medical treatment alone and an unfavorable group (Group II) who required surgical intervention after birth due to refractory ascites. There were seven patients in Group I and five patients in Group II. Six of seven patients who developed ascites after 30 weeks’ gestation were categorized in Group I, and four of five infants who developed ascites before 30 weeks’ gestation were categorized in Group II. There was a negative correlation between the gestational age at diagnosis and the severity of the fetal abdominal distention. In Group II, the ascites resolved in two cases and was reaccommodated in another two cases after surgery. An infant with trisomy 21 received continuous drainage and eventually died of infection. The prognosis of primary isolated fetal ascites can be predicted based on the gestational age at diagnosis and the severity of the fetal abdominal distention.

Aim: The purpose of the present study was to investigate the potential value of fetal routine sonographic biometry in evaluating micromelias. Methods: Thirty fetuses had a presumptive diagnosis of micromelia from antepartum ultrasound examinations during the period between 1 April 1996 and 31 March 2005. The postnatal clinical features, final diagnoses and outcomes were examined to retrospectively compare these cases with biometric parameters obtained from routine antepartum ultrasound examinations. Results: Final diagnoses included skeletal dysplasia (16), small-for-dates (SFD) infant without any abnormalities (seven), chromosomal abnormality (three), pyruvate dehydrogenase complex deficiency (one), Marden–Walker syndrome (one), and suspected Freeman–Sheldon syndrome (one). One turned out to be a healthy infant. All cases were divided on the basis of the final diagnoses into three groups: skeletal dysplasia (16 fetuses), SFD and healthy infant (eight fetuses) and others (six fetuses). The ratios of femur length (FL) to mean FL at a given gestational age (%FL) and of FL to biparietal diameter (FL/BPD) were significantly lower in the skeletal dysplasia group than those in the other groups. Moreover, in the skeletal dysplasia group, when the lethal cases were excluded, the ratio of FL to fetal trunk cross area (FL/FTA) was significantly lower than that in the other groups. Conclusions: FL/FTA appears to be a useful parameter to help differentiate fetuses with non-lethal skeletal dysplasia from anatomically normal fetuses either with constitutionally short limbs or with intrauterine growth restriction (IUGR).

Human cytomegalovirus (CMV) is a leading congenital infectious agent in developed countries. In the past, the incidence of congenital infection has been rather low in Japan because a high seroprevalence of CMV present in young women. However, this seroprevalence has been decreasing in recent years, so that the incidence of congenital CMV infection in Japanese neonates may increase and approach the level seen in other developed countries. The method was used for detecting CMV DNA reported by Barbi et al. [Barbi et al. (1996): Clin Diagn Virol 6:27-32] using a dried blood spot on filter paper, to diagnose congenital CMV infection in Japanese neonates. This method is effective and less laborious than virus isolation both for epidemiological studies and for identifying asymptomatic infected babies. Japanese neonates (1,176) were examined; two of who were asymptomatic were found to be infected.

Purpose To determine the serum concentrations of bevacizumab and vascular endothelial growth factor (VEGF) in infants with retinopathy of prematurity (ROP) who received intravitreal bevacizumab; and to determine whether the changes in the serum concentration of bevacizumab were significantly correlated with the serum concentration of VEGF after intravitreal bevacizumab. Design Case series. Methods Eleven infants (4 girls and 7 boys) with ROP were studied. They received 0.25 mg or 0.5 mg of intravitreal bevacizumab to either 1 eye (unilateral cases) or both eyes (bilateral cases) with vascularly active ROP. Serum samples were collected before and 1 day, 1 week, and 2 weeks after the intravitreal bevacizumab. The serum concentrations of bevacizumab and VEGF were measured by enzyme-linked immunosorbent assay, and the correlation in the serum levels between the 2 was determined. Results The serum concentration of bevacizumab before and 1 day, 1week, and 2 weeks after a total of 0.5 mg of intravitreal bevacizumab was 0 ng/mL, 195 ± 324 ng/mL, 946 ± 680 ng/mL, and 1214 ± 351 ng/mL, respectively. The serum bevacizumab level before and 1 day and 1 week after a total 1.0 mg of intravitreal bevacizumab was 0 ng/mL, 248 ± 174 ng/mL, and 548 ± 89 ng/mL, respectively. The serum concentration of VEGF before and 1 day, 1 week, and 2 weeks after a total of 0.5 mg intravitreal bevacizumab was 1628 ± 929 pg/mL, 427 ± 140 pg/mL, 246 ± 110 pg/mL, and 269 ± 157 pg/mL, respectively. There was a significant negative correlation ( r = −0.575, P = .0125) between the serum concentration of bevacizumab and VEGF when a total of 0.25 mg or 0.5 mg of bevacizumab was injected. Conclusions These results indicate that bevacizumab can escape from the eye into the systemic circulation and reduce the serum level of VEGF in infants with ROP. Continued extensive evaluations of infants are warranted for possible effects after intravitreal bevacizumab in ROP patients.

Although recently published case reports suggest the significance of Jr(a) alloimmunization in the obstetric setting, the involved mechanism still remains unclear. Here we report a case of severe fetal and neonatal anemia associated with anti-Jr(a) alloimmunization, which was successfully managed using Doppler assessment of peak systolic velocity of the fetal middle cerebral artery (MCA-PSV). A Japanese woman with anti-Jr(a) (titer 1024) was referred to our department at 20 weeks' gestation. As fetal MCA-PSV exceeded 1.5 multiple of median, labor was induced and a female neonate of 1998 g was delivered vaginally at 33 weeks and 5 days of gestation. The infant's hematocrit and hemoglobin levels were 25.4% and 82 g/L, respectively, but her total bilirubin level (15 µmol/L; 0.9 mg/dL) and reticulocyte counts (4.5%) were low. During the course, the infant showed no apparent signs of hemolysis. Jr(a) alloimmunization should be recognized as a possible cause of fetal anemia with no direct hemolytic process.

Aim: The aim of the study was to evaluate the short-term efficacy of intravitreal injections of bevacizumab for severe retinopathy of prematurity (ROP). Methods: A retrospective chart review was conducted of 23 consecutive eyes (stage 3, three eyes; 4A, 18 eyes; 4B, two eyes) of 14 patients with vascularly active ROP considered at high risk for progression or development of tractional retinal detachment despite conventional laser ablation therapy. Patients received an intravitreal injection of bevacizumab (0.5 mg), either as the initial treatment (15 eyes) or at the end of vitrectomy (eight eyes). Results: After injection of bevacizumab as the initial treatment, reduced neovascular activity was seen on fluorescein angiography in 14 of 15 eyes. In three eyes, a tractional retinal detachment developed or progressed after bevacizumab injection. No other ocular or systemic adverse effects were identified. Vitrectomy was performed in 20 eyes and the retina was reattached after one surgery in 18 eyes. Multiple surgeries were necessary in two eyes, resulting in retinal reattachment. Conclusion: There results suggest that intravitreal injection of bevacizumab seems to be associated with reduced neovascularisation without apparent ocular or systemic adverse effects, and is thus beneficial for treating severe ROP that is refractory to conventional laser therapy.