Trends in the survival of patients with trisomy 13 from 1995 to 2021: A population study in Japan.

It remains unclear whether recent changes in the prognosis and management of patients with trisomy 13 impact patient survival. We investigated changes in survival of patients with trisomy 13 in Japan. Data from the Vital Statistics Database in Japan was retrieved to examine the association of sex, surgical history, and years of birth and death with changes in survival patterns in 1164 patients with trisomy 13 between 1995 and 2021. The rates of deaths due to trisomy 13 increased from 9.8% to 23.1% in those over 1 year of age and from 7.3% to 19.2% in those within 24 h of birth between 1995 and 2021. The median survival time was longer in 2009-2021 than in 1996-2008 (40 vs. 84 days, p < 0.001). The median survival time and the rate of patients with surgical history increased from 91 days and 16.0% in 1996-2008 to 179 days and 28.0% in 2009-2021, respectively. Median survival time among patients with trisomy 13 has increased over the last 26 years, with almost 1 in 3 patients currently surviving for more than 1 year. The increased surgical intervention rate might have contributed to this improvement.

Disease Trends in Children and Adolescents in Japan: A Retrospective Observational Study Using the Nationwide Claims Data for 2012-2016.

This study aimed to clarify diseases that occur more frequently by age and identify the peaks and trends of each disease from infancy to adolescence for early detection and treatment. This retrospective observational study was conducted using Japan's National Database of Health Insurance Claims Specific Health Checkups from January 2012 to December 2016. Using peak ages and trends in the number of patients, we grouped diseases by the International Classification of Diseases chapters. Although diseases that peaked during infancy were the most common (10 disease chapters), other diseases peaked at school-going age and adolescence. Diseases in four chapters peaked during adolescence and continued to increase toward the age of 18. These four chapters included mental, behavioral, and neurodevelopmental disorders; diseases of the nervous system; the genitourinary system; and pregnancy, childbirth, and the puerperium. Childhood-onset diseases can affect long-term health and healthcare needs, and timely screening and guidance based on disease trends can provide an effective intervention. To establish a child healthcare system that provides preventive support for children and adolescents' physical, psychological, and social health, further research is needed to comprehensively understand the issues per age and developmental stage.

Promoting awareness of terminology related to unmet medical needs in context of rheumatic diseases in Japan: a systematic review for evaluating unmet medical needs.

To optimize patient prognosis, patient needs, including unmet needs, should be adequately assessed. However, such needs are more challenging to report and, consequently, more likely to go unmet compared with the needs reported by physicians. We aimed to determine the appropriate direction of future research on unmet medical needs in rheumatic diseases in Japan by conducting a literature review. We searched PubMed and Web of Science using 23 terms linked to unmet medical needs for major rheumatic diseases in Japan. Further, we collected articles on health-related quality of life and investigated the scales used for assessment, as well as whether the terms "unmet needs" or "unmet medical needs" were used. We identified 949 papers on 10 diseases, including systemic lupus erythematosus, systemic sclerosis, dermatomyositis, juvenile idiopathic arthritis, adult-onset Still's disease, antiphospholipid syndrome, mixed connective tissue disease, Takayasu arteritis, Sjögren's syndrome, and Behçet's disease; 25 of the 949 papers were selected for full-text review. Fifteen articles on five diseases were related to health-related quality of life. The term "unmet needs" was used in only one article. Six out of 15 studies used the 36-item short form survey, whereas the scales used in other studies differed. The optimal treatment plan determined by a physician may not necessarily align with the best interests of the patient. In clinical research, cross sectional and standardized indicators of health-related quality of life should be employed along with highly discretionary questionnaires to assess and optimize resource allocation in healthcare and simultaneously achieve patient-desired outcomes.

Epidemiologic study of patients after Fontan operation based on Medical Aid Program for Chronic Pediatric Diseases of Specified Categories cohort.

Nationwide registry data of patients with single-ventricle physiology have been rarely reported. The Medical Aid Program for Chronic Pediatric Diseases of Specified Categories (Japan) has contributed to the financial support of medical expense for patients younger than 20 years with chronic paediatric disease, and almost all children in Japan who require disease-specific treatment voluntarily apply to this programme. The epidemiology and medium- to long-term outcome of patients following a Fontan procedure were investigated using the database. The usefulness of this epidemiologic investigation in identifying real-world objectives and clinical applications was also examined. A total of 2862 patients who underwent a Fontan operation were identified from 18,589 patients with chronic heart disease registered to the medical aid programme. The details of symptoms, treatment, and somatic growth were evaluated, from which we were able to clarify the nationwide data regarding the current status of post-Fontan patients younger than 20 years. This study elucidated the current status of post-Fontan patients under 20 years of age in Japan. Data analysis of the Medical Aid Program for Chronic Pediatric Diseases of Specified Categories cohort provided useful information towards understanding the comprehensive status of patients with chronic heart disease and contributed to improved disease management.

Efficacious interventions for improving the transition readiness of adolescents and young adult patients with chronic illness: A narrative review of randomized control trials assessed with the transition readiness assessment questionnaire.

Objective: We inspected efficacious interventions to improve the transition readiness of adolescent and young adult patients with childhood-onset chronic illnesses using the Transition Readiness Assessment Questionnaire (TRAQ). Methods: Our narrative review was conducted on randomized control studies assessed with TRAQ for outcome measurement before and after the interventions. We included all patients with chronic diseases. We searched eight electronic database(s): Allied and Complementary Medicine Database (AMED) Allied and Complementary Medicine, BioSciences Information Service of Biological Abstracts (BIOSIS) Previews, Cumulative Index to Nursing and Allied Health Literature (CINAHL), the Cochrane Library, Embase, Ichu-shi, Medline, and Web of Science. The text words for the search of data sources were as follows: "("transition readiness assessment questionnaire" OR TRAQ) AND 2011/01:2022/06[DP] AND (clinical AND trial OR clinical trials OR clinical trial OR random* OR random allocation)." More studies were identified from the references in our reported study. This data set was independently cross-checked by two reviewers. Results: We identified 261 reports and collected three articles. The target diseases were type-1 diabetes, congenital heart disease, cystic fibrosis, and inflammatory bowel disease. All the studies excluded patients with intellectual disabilities. The age of the participants was distributed between 12 and 20 years. Nurse-provided web-based intervention of transition readiness was constructed using digital resources in two studies. The intervention ranged from 6 to 18 months. All the interventions were efficacious in improving transition readiness assessed with TRAQ scores, except for the self-advocacy score. Conclusions: We obtained three randomized control studies with TRAQ for outcome measurement. In two studies, web-based and nurse-led organized interventions were shown to improve transition readiness.

Causes of death in patients with Down syndrome in 2014-2016: A population study in Japan.

Despite the higher mortality rates in patients with Down syndrome compared with the general Japanese population, the life span has dramatically increased in Japan and other countries. We aimed to clarify recent causes of death in patients with Down syndrome in Japan. We calculated proportionate mortality and standardized mortality odds ratios (SMORs) among all deaths registered with Down syndrome as the cause of death (ICD-10 code, Q90) in the Japanese National Death Registry Database in 2014-2016. In the study period, 762 in patients with Down syndrome died. The main causes of death were pneumonia/respiratory infections (20.5%), congenital malformations of the circulatory system (11.2%), other diseases of the circulatory system (9.2%), and aspiration pneumonia (8.4%). The SMORs (95% confidence intervals) were higher for natural death, defined as death of an elderly person with no other cause of death to be mentioned (55.73 [36.92-84.12]), early-onset Alzheimer's disease, defined as Alzheimer's disease with onset <65 years of age (29.36 [16.44-52.44]), aspiration pneumonia (18.33 [14.03-23.96]), pneumonia/respiratory infections (8.11 [6.76-9.73]), congenital malformations of the circulatory system (8.07 [5.98-10.88]), and leukemia/lymphoma (2.16 [1.55-2.99]) but lower for malignant solid tumors (0.04 [0.02-0.06]) in patients with Down syndrome. Patients with Down syndrome had the greatest relative risk of dying from natural death, early-onset Alzheimer's disease, and respiratory illnesses, highlighting the need for appropriate medical, health, and welfare services.

Cost-effectiveness analysis of neonatal screening of critical congenital heart defects in China.

BACKGROUND: Pulse oximetry screening is a highly accurate tool for the early detection of critical congenital heart disease (CCHD) in newborn infants. As the technique is simple, noninvasive, and inexpensive, it has potentially significant benefits for developing countries. The aim of this study is to provide information for future clinical and health policy decisions by assessing the cost-effectiveness of CCHD screening in China. METHODS AND FINDINGS: We developed a cohort model to evaluate the cost-effectiveness of screening all Chinese newborns annually using 3 possible screening options compared to no intervention: pulse oximetry alone, clinical assessment alone, and pulse oximetry as an adjunct to clinical assessment. We calculated the incremental cost per averted disability-adjusted life years (DALYs) in 2015 international dollars to measure cost-effectiveness. One-way sensitivity analysis and multivariate probabilistic sensitivity analysis were performed to test the robustness of the model. Of the three screening options, we found that clinical assessment is the most cost-effective strategy compared to no intervention with an incremental cost-effectiveness ratio (ICER) of Int$5,728/DALY, while pulse oximetry plus clinical assessment with the highest ICER yielded the best health outcomes. Sensitivity analysis showed that when the treatment rate increased up to 57.5%, pulse oximetry plus clinical assessment showed the best expected values among the three screening options. CONCLUSION: In China, for neonatal screening for CCHD at the national level, clinical assessment was a very cost-effective preliminary choice and pulse oximetry plus clinical assessment was worth considering for the long term. Improvement in accessibility to treatment is crucial to expand the potential health benefits of screening.

Inter-prefecture disparity in under-5 mortality: 115 year trend in Japan.

BACKGROUND: Child poverty is a growing, serious issue in Japan, where various social disparities are increasing. Numerous reports have focused on the relationship between social inequity and health, but few studies have assessed how the overall magnitude of disparities in child health has changed in the course of drastic social and economic transitions from 1899 to more recent times. In this study, we assessed the trend of the under-5 mortality rate (U5MR) and its inter-prefecture disparity in Japan. METHODS: This is a secondary analysis of Japan's vital statistics data from 1899 to 2014 (115 years), which covers a core period of modern Japan. We calculated the U5MR of each prefecture and its Theil index by year to assess the trend of inter-prefecture disparity in child health from 1899 to 2014. RESULTS: The U5MR monotonically decreased from 238 per 1,000 births in 1899 to 3 in 2014. The Theil index of the U5MR increased in the post-war period, peaked in 1962 (0.027) and gradually reduced to <0.01 in the 1970s. In the 2000s, however, even though U5MR continued to decrease, the Theil index started to increase, and in 2014 (0.013) it exceeded that in 1970 and was more similar to that before World War II. CONCLUSIONS: The disparities in child health appear to be widening, and may serve as a warning to today's society that increasing socioeconomic gradients may lead to rising health inequity among children. Further investigations into the causes, mechanisms, and possible interventions are needed.

Influence of light exposure at nighttime on sleep development and body growth of preterm infants.

Previous studies have demonstrated that a light-dark cycle has promoted better sleep development and weight gain in preterm infants than constant light or constant darkness. However, it was unknown whether brief light exposure at night for medical treatment and nursing care would compromise the benefits brought about by such a light-dark cycle. To examine such possibility, we developed a special red LED light with a wavelength of >675 nm which preterm infants cannot perceive. Preterm infants born at <36 weeks' gestational age were randomly assigned for periodic exposure to either white or red LED light at night in a light-dark cycle after transfer from the Neonatal Intensive Care Unit to the Growing Care Unit, used for supporting infants as they mature. Activity, nighttime crying and body weight were continuously monitored from enrolment until discharge. No significant difference in rest-activity patterns, nighttime crying, or weight gain was observed between control and experimental groups. The data indicate that nursing care conducted at 3 to 4-hour intervals exposing infants to light for <15 minutes does not prevent the infants from developing circadian rest-activity patterns, or proper body growth as long as the infants are exposed to regular light-dark cycles.

Exchange transfusion in patients with Down syndrome and severe transient leukemia.

BACKGROUND: Among neonates with Down syndrome (DS) and transient leukemia (TL), hyperleukocytosis (white blood cell [WBC] count >100 × 10(9) /L) is associated with increased blood viscosity, respiratory failure due to pulmonary hypertension, multiorgan failure, and increased risk of early death. There have been no previous studies focusing on the effects of exchange transfusion (ExT) on WBC count, respiratory status, and other parameters in TL patients with hyperleukocytosis. METHODS: An observational retrospective study was carried out at a single center of all five DS neonates with TL, GATA1 mutations, and hyperleukocytosis, born at a median gestational age of 34 weeks (range, 30-38 weeks) with birthweight 2556 g (range, 1756-3268 g) during a 24 month study period between September 2011 and August 2013. All five neonates underwent ExT at a median age of 2 days (range, 0-5 days) before initiation of other cytoreductive therapy with cytarabine, which was carried out in two patients. RESULTS: All patients required respiratory support before ExT. After ExT, respiration status improved in all five patients: WBC count (mean) decreased by 85% from 143 × 10(9) /L to 21 × 10(9) /L. None developed tumor lysis syndrome. Three survived and two died: one hydrops fetalis neonate born at gestational week 30 died at age 5 days, and another died eventually from acute gastroenteritis 40 days after leaving hospital at the age of 155 days with complete remission. Two of the three surviving neonates developed acute megakaryocytic leukemia at age 90 days and 222 days. CONCLUSION: ExT was very effective in improving hyperleukocytosis and may have had favorable effects on respiration.

B-type natriuretic peptide levels at birth predict cardiac dysfunction in neonates.

BACKGROUND: Although the B-type natriuretic peptide (BNP) levels in the umbilical cord blood (UCB-BNP) and amniotic fluid (AF-BNP) of neonates may be clinically useful for identifying newborns with cardiac dysfunction, the effects of various clinical factors, such as gestational age at birth, small for gestational age (SGA), and neonatal asphyxia, on the UCB-BNP and AF-BNP levels have not been studied extensively. METHODS: The present study sought to determine whether the UCB-BNP and AF-BNP levels can predict cardiac dysfunction and hypotension in preterm infants soon after birth and to evaluate the association between BNP and various clinical factors. The UCB-BNP and AF-BNP levels at birth were determined in 320 and 195 neonates, respectively, born to mothers with singleton pregnancies. RESULTS: The UCB-BNP and AF-BNP levels in infants treated with dopamine were significantly higher than those in infants without dopamine administration (230.1 vs 33.1 pg/mL and 74.4 vs 18.1 pg/mL, respectively). Stepwise multiple regression analyses indicated that gestational age, SGA, asphyxia, and chorioamnionitis were significant independent determinants of the UCB-BNP level. Cut-off values of >90 pg/mL for UCB-BNP and >36 pg/mL for AF-BNP yielded sensitivities of 68% and 93%, respectively, and specificities of 84% and 81%, respectively, for detecting neonates who required dopamine administration after birth. CONCLUSION: High UCB-BNP and AF-BNP levels predict neonatal cardiac dysfunction soon after birth.