50 results match your criteria: "National Center for Child Health and Development Tokyo Japan.[Affiliation]"

Article Synopsis
  • Left ventricular noncompaction (LVNC) is a hereditary heart condition marked by unusual heart muscle structure, and this study specifically focused on biventricular noncompaction (BiVNC) in children to understand its clinical characteristics and genetic factors.
  • The research involved 234 pediatric patients and revealed that BiVNC often leads to serious complications, including a higher incidence of congenital heart disease and reduced survival rates compared to other heart conditions.
  • Findings indicated that patients with BiVNC frequently exhibited left ventricular dysfunction and a notable percentage had genetic variants linked to mitochondrial and developmental issues, emphasizing the need for thorough genetic screening for better patient outcomes.
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  • * It highlights the complexities of performing allogeneic transplants amid active infections, as they typically have poor outcomes.
  • * A specific case is presented about a 5-year-old boy with disseminated infection who received granulocyte transfusions from his mother and underwent successful haploidentical stem cell transplantation from his father after immunosuppressive treatment for SAA.
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Background: Little is known about the relationship of healthy diets, which are widely recommended to prevent diseases in general populations, with the risk of hypertensive disorders of pregnancy (HDP), particular among non-Western populations with different dietary habits. We aimed to investigate the association between periconceptional diet quality and the risk of HDP among pregnant Japanese women.

Methods And Results: Dietary intake over 1 year before the first trimester of pregnancy was assessed using a validated, self-administered food frequency questionnaire among 81 113 pregnant Japanese women who participated in a prospective cohort of the Japan Environment and Children's Study.

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  • A large-scale study in Japan investigated the link between prenatal factors and congenital heart defects (CHD) in children, focusing on maternal characteristics and behaviors.
  • Analyzed data from 91,664 single births, the study found that specific factors such as vitamin A supplement use, certain medications, maternal age, and high hemoglobin levels were significantly associated with an increased risk of CHD.
  • The findings highlight the importance of various maternal health aspects during pregnancy and their potential influence on heart defects in children.
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Aim: Liver allografts from brain-dead donors, which were declined and were eventually not transplanted due to accompanying marginal factors, have never been surveyed in Japan. We surveyed the declined allografts and discussed the graft potential focusing on various marginal factors.

Methods: We collected data on brain-dead donors between 1999 and 2019 from the Japan Organ Transplant Network.

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Background: The human hypothalamic-pituitary-gonadal (HPG) axis is the regulatory center for pubertal development. This axis involves six G-protein coupled receptors (GPCRs) encoded by , , , , , and .

Methods: Previous studies have identified several rare variants of the six GPCR genes in patients with pubertal disorders.

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  • The study investigates the impact of high trait anxiety in individuals with 22q11.2 deletion syndrome (22q11DS) and its links to mental health issues.
  • A survey of 125 parents revealed that their children's high anxiety levels correlate with the parents' psychological distress and various challenges in medical, welfare, and educational settings.
  • The findings emphasize the need for tailored support services that recognize high trait anxiety as a significant aspect of 22q11DS, highlighting the challenges faced by both parents and children.
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  • The study examines coronary arterial aneurysms (CAAs) in patients with Kawasaki disease (KD), highlighting their impact on patient prognosis and the factors influencing CAA regression.
  • Analyzing data from over 1,000 KD patients across 44 institutions in Japan, the research shows that smaller CAAs are more likely to regress over a 10-year period compared to larger ones.
  • Key findings indicate that early diagnosis (under age 1), more recent onset of KD (2010-2012), and female sex are linked to higher regression rates for CAAs, which can inform better long-term management strategies for these patients.
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Mutations in transport and Golgi organization 2 homolog () have recently been described as a cause of an autosomal recessive syndrome characterized by episodes of metabolic crisis associated with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration. Herein, we report a case of a one-and-a-half-year-old Japanese girl, born to nonconsanguineous parents, who presented with metabolic crisis characterized by hypoglycemia with hypoketonemia, rhabdomyolysis, lactic acidosis, and prolonged corrected QT interval (QTc) at the age of 6 months. Acylcarnitine analysis during the episode of crisis showed prominent elevation of C14:1, suggesting very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency.

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Background: In Japan, pediatric primary care has often been provided not by general practitioners, but by specialists. Although official pediatric training of general practitioners started in Japan in 2018 no studies to date show the extent to which Japanese general practitioners are committed to pediatric care.

Methods: We conducted a questionnaire survey on pediatric training and current pediatric practice for family physicians certified by the Japan Primary Care Association.

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The effectiveness of patent foramen ovale closure for migraine has been previously discussed. By contrast, very few studies have reported the association between migraine and atrial septal defect closure. Here, we report a case in which atrial septal defect closure effectively relieved migraine headaches.

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  • The study aimed to assess the characteristics of airway management during tracheal intubation in pediatric emergency departments (EDs) across Japan.
  • It involved a multicenter, prospective analysis of 231 children who underwent intubation from October 2018 to June 2020, identifying factors related to the location, patients, and providers.
  • The overall first-attempt success rate for intubation was 72%, with notable variations influenced by factors such as age and anatomical conditions, and 17% of cases experienced adverse events, mostly hypoxemia.
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Aim: Using nationwide data collected over the past 20 years, we aimed to investigate deceased donor liver transplantation (DDLT) outcomes to develop a unique risk model that can be used to establish a standard for organ acceptance in Japan.

Methods: Data were collected for 449 recipients aged ≥18 years who underwent DDLT between 1999 and 2019. Least absolute shrinkage and selection operator (LASSO) regression analysis was utilized to develop an original risk score model for 1-year graft loss (termed the Japan Risk Index [JRI]).

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Confined placental mosaicism (CPM) leads to discordant noninvasive prenatal testing (NIPT) results. We describe a very rare case of CPM of trisomy 6 detected through genome-wide NIPT. This case was associated with placental abruption, which might suggest an association between certain types of CPM detected by NIPT and pregnancy complications.

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The Japanese Clinical Practice Guidelines for Management of Sepsis and Septic Shock 2020 (J-SSCG 2020), a Japanese-specific set of clinical practice guidelines for sepsis and septic shock created as revised from J-SSCG 2016 jointly by the Japanese Society of Intensive Care Medicine and the Japanese Association for Acute Medicine, was first released in September 2020 and published in February 2021. An English-language version of these guidelines was created based on the contents of the original Japanese-language version. The purpose of this guideline is to assist medical staff in making appropriate decisions to improve the prognosis of patients undergoing treatment for sepsis and septic shock.

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Article Synopsis
  • Aimed to improve non-invasive prenatal testing (NIPT) by isolating and sequencing fetal nucleated red blood cells (fNRBCs) from maternal blood to provide a cleaner source of fetal DNA.
  • Used male-bearing pregnancies to isolate fNRBCs via FACS and obtained genomic data through a series of PCR screenings and whole-genome sequencing.
  • Found that while most fNRBC candidates were confirmed fetal cells, the genetic amplification process wasn't efficient, indicating a need for better isolation techniques to ensure the integrity of fNRBC nuclei for effective testing.
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Background Clinical effectiveness of autologous skeletal cell-patch implantation for nonischemic dilated cardiomyopathy has not been clearly elucidated in clinical settings. This clinical study aimed to determine the feasibility, safety, therapeutic efficacy, and the predictor of responders of this treatment in patients with nonischemic dilated cardiomyopathy. Methods and Results Twenty-four nonischemic dilated cardiomyopathy patients with left ventricular ejection fraction <35% on optimal medical therapy were enrolled.

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Osteomyelitis in childhood is often hematogenous and neonates are generally prone to bacteremia because of immature immunity. Neonatal osteomyelitis occurs even in the absence of apparent immunological or perinatal abnormalities.

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Severe oral mucositis as a complication of chemotherapy may lead to airway obstruction and require prolonged intubation. As its course is consistent with the course of neutropenia, airway management strategies should be determined individually.

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