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Background: The number of adult patients with childhood-onset chronic diseases is increasing. However, the process of transitioning these patients from child- to adult-centered medical services faces many difficulties. Despite the key role that doctors in the pediatric field are considered to play in transition, few fact-finding surveys about transition have been conducted among these doctors. Objective: The aim of this study was to demonstrate the current status and challenges in the transition of patients with childhood-onset chronic diseases by a fact-finding survey of pediatricians and pediatric surgeons at a university hospital. Methods: A cross-sectional survey was performed using an anonymous self-administered questionnaire. Seventy-six doctors of pediatrics and pediatric surgery (excluding junior residents) in a university hospital were asked to answer an anonymous self-report questionnaire. A multidisciplinary research team selected items related to the transitional process. Results: Sixty (79%) doctors participated, of whom 52 (87%) showed awareness of transition. No doctor answered that "Transition is conducted smoothly." Doctors with shorter pediatric department experience had lower awareness and poorer experience with transition. In contrast to pediatric surgeons, pediatricians explained "job-seeking activities" and "contraceptive methods" to the patient, and reported a higher patient age at which to initiate explanation of transition to the patient and his/her family. Among factors inhibiting transition, 39 (65%) respondents selected "The patient's family members do not desire transition" and 34 (57%) selected "Although a relevant adult healthcare department is available, it will not accept the patient." The medical providers most frequently considered to have responsibility for playing a central role in the transition process were "pediatrician/pediatric surgeon," "medical social worker," and "regional medical liaison office." Discussion: To promote transition, pediatric and adult healthcare departments should share concerns about and cooperate in the establishment of more effective methods of transition, and provide multidisciplinary collaboration to support patients and their families. [ABSTRACT FROM AUTHOR]

Reports of acute myocarditis are increasing due to the worldwide spread of coronavirus disease 2019 (COVID-19). We report a case of a 5-year-old girl with fulminant myocarditis caused by COVID-19, who was successfully treated with veno-arterial extracorporeal membrane oxygenation (VA-ECMO). The unvaccinated patient had developed fever 1 week before attending our hospital and was "presumptive positive" for COVID-19 based on the surrounding infectious situation. The fever resolved, but the day before the visit, abdominal pain appeared. The patient visited her previous physician with vomiting as the main complaint. She was transferred to our hospital due to impaired consciousness and bradycardia, with a heart rate of 40 beats/min. Immediately after transfer, she was diagnosed with complete atrioventricular (AV) block and was scheduled to undergo percutaneous pacing lead insertion. However, the patient had ventricular tachycardia, AV block and hypotension intraoperatively and required cardiopulmonary resuscitation. The patient was in an extremely unstable circulatory state, and VA-ECMO was urgently introduced. After multidisciplinary treatment for acute myocarditis, waiting for an improvement in AV block, and recovery of cardiac function, the patient was weaned from VA-ECMO on the eighth day after admission. The patient was discharged with no cardiac or neurologic sequelae. The rapid introduction of veno-arterial extracorporeal membrane oxygenation for fulminant myocarditis caused by coronavirus disease 2019 (COVID-19) in young children is extremely effective. Vaccination may be important for preventing infection with COVID-19 and avoiding severe complications. [ABSTRACT FROM AUTHOR]

Despite recent advances in therapeutic approaches, treatment for patients with refractory protein-losing enteropathy (PLE) after undergoing the Fontan procedure remains a challenge for clinicians. In this report, we present a Fontan patient in whom oral cilostazol improved PLE with a restored atrial rhythm. We report on a 13-year-old girl with double-outlet right ventricle, ventricular septal defect, l-transposition of the great arteries, and left ventricle hypoplasia. After the Fontan procedure at 16 months of age, she developed PLE at the age of 2 years. As medical treatments such as diuretics, enalapril, heparin, stent implantation for left pulmonary artery, and oral steroids did not lead to remission, intermittent albumin administration was needed. She had ectopic atrial and junctional rhythms, and cardiac catheterization revealed that the junctional rhythm decreased cardiac output and increased central venous pressure. We therefore started her on cilostazol and succeeded in the maintenance of atrial rhythm, resulting in increased serum albumin, globulin, electrolytes, and nutritional status markers with suppression of bowel inflammation. This patient finally was taken off the steroid and returned to a normal school and home life. Oral cilostazol is a possible therapeutic strategy for refractory PLE, as it improves hemodynamics in Fontan patients with sinus node dysfunction. We present a Fontan patient in whom oral cilostazol for maintaining atrial rhythm improved protein-losing enteropathy (PLE) without any side effects. The junctional rhythm disappeared after the initiation of cilostazol, which suggested that cilostazol stimulated a dominant pacemaker even if the pacemaker was an ectopic focus in the atrium. Oral cilostazol is a possible therapeutic strategy for refractory PLE. We also propose oral cilostazol as a bridging therapy prior to pacemaker implantation. [ABSTRACT FROM AUTHOR]

Parents of children with 22q11.2 deletion syndrome (22q11DS) experience distress not only due to multimorbidity in the patients, but also due to professionals' lack of understanding about 22q11DS and insufficient support systems. This study investigated relationships between medical, welfare, and educational challenges and parental psychological distress. A cross‐sectional survey was conducted on primary caregivers of children with 22q11DS. Participants included 125 parents (114 mothers, 91.2%; average age = 44.3 years) who reported their challenges, psychological distress, and child's comorbidities of 22q11DS. Results showed that the difficulty in going to multiple medical institutions (β = 0.181, p < 0.05) and lack of understanding by welfare staff and insufficient welfare support systems for 22q11DS (β = 0.220–0.316, all p < 0.05) were associated with parental psychological distress, even after adjusting for child's comorbidities. In the subsample of parents whose child attended an educational institution, inadequate management in classroom and mismatch between service and users in educational settings were associated with psychological distress (β = 0.222–0.296, all p < 0.05). This study reveals the importance of assessing not only severity of comorbidities in 22q11DS, but also the medical, welfare, and educational challenges for parental mental health. [ABSTRACT FROM AUTHOR]

Ductus arteriosus aneurysm (DAA) is a rare cardiovascular anomaly, and thrombosis of DAA is even less common. The management of asymptomatic DAA with a thrombus is controversial. We here report a neonate with a thrombus from a DAA that grew rapidly into the pulmonary artery. The thrombus was detected incidentally in the main pulmonary artery by routine screening echocardiography. There was no clinical evidence of its presence until a few days after birth. The thrombus grew rapidly, despite administration of heparin. Six days after birth, the patient became cyanotic and had developed right ventricular pressure overload as a result of obstruction of the left pulmonary artery. The thrombus was immediately removed and the DAA resected. The patient was discharged home without any complications. Complications related to thrombus of a DAA can be critical and therefore require careful monitoring. A thrombus extending from a ductus arteriosus aneurysm into the pulmonary artery can have serious consequences; thus, careful monitoring is required. Any signs of such complications should prompt immediate consideration of removal of the aneurysm and thrombus. [ABSTRACT FROM AUTHOR]

Abstract Background Telmisartan is a well-established angiotensin II type 1 receptor blocker that improves insulin sensitivity in animal models of obesity and insulin resistance, as well as in humans. Telmisartan has been reported to function as a partial agonist of the peroxisome proliferator-activated receptor (PPAR) γ, which is also targeted by the nicotinamide adenine dinucleotide (NAD)-dependent deacetylase (SIRT1). Here, we investigated the pathways through which telmisartan acts on skeletal muscle, in vitro as well as in vivo. Methods Nine-week-old male db/db mice were fed a 60% high-fat diet, with orally administrated either vehicle (carboxymethyl-cellulose, CMC), 5 mg/kg telmisartan, or 5 mg/kg telmisartan and 1 mg/kg GW9662, a selective irreversible antagonist of PPARγ, for 5 weeks. Effects of telmisartan on Sirt1 mRNA, AMPK phosphorylation, and NAD+/NADH ratio were determined in C2C12 cultured myocytes. Results and discussion Telmisartan treatment improved insulin sensitivity in obese db/db mice fed a high-fat diet and led to reduction in the size of hypertrophic pancreatic islets in these mice. Moreover, in vitro treatment with telmisartan led to increased expression of Sirt1 mRNA in C2C12 skeletal muscle cells; the increase in Sirt1 mRNA in telmisartan-treated C2C12 myoblasts occurred concomitantly with an increase in AMPK phosphorylation, an increase in NAD+/NADH ratio, and increases in the mRNA levels of PGC1α, FATP1, ACO, and GLUT4. Conclusions Our results indicate that telmisartan acts through a PPARγ-independent pathway, but at least partially exerts its effects by acting directly on skeletal muscle AMPK/SIRT1 pathways.

Abstract Background Growing evidence suggests that epicardial adipose tissue (EAT) may contribute to the development of coronary artery disease (CAD). In this study, we explored gender disparities in EAT volume (EATV) and its impact on coronary atherosclerosis. Methods The study population consisted of 90 consecutive subjects (age: 63 ± 12 years; men: 47, women: 43) who underwent 256-slice multi-detector computed tomography (MDCT) coronary angiography. EATV was measured as the sum of cross-sectional epicardial fat area on CT images, from the lower surface of the left pulmonary artery origin to the apex. Subjects were segregated into the CAD group (coronary luminal narrowing > 50%) and non-CAD group. Results EATV/body surface area (BSA) was higher among men in the CAD group than in the non-CAD group (62 ± 13 vs. 33 ± 10 cm3/m2, p < 0.0001), but did not differ significantly among women in the 2 groups (49 ± 18 vs. 42 ± 9 cm3/m2, not significant). Multivariate logistic analysis showed that EATV/BSA was the single predictor for >50% coronary luminal narrowing in men (p < 0.0001). Predictors excluded were age, body mass index, hypertension, diabetes mellitus, and hyperlipidemia. Conclusions Increased EATV is strongly associated with coronary atherosclerosis in men.

Background: The evaluation of transition readiness is indispensable for long‐term follow‐ups of adolescent patients with childhood‐onset chronic diseases (CCD). We developed a Japanese version of the TRANSITION‐Q (TRANSITION‐Q‐J) and used it to assess Japanese patients with CCD. Methods: The TRANSITION‐Q‐J was developed through forward and backward translations followed by cognitive interviews with five adolescent patients. The field test was conducted with 125 adolescent patients, and a retest was conducted with 113 adolescent patients. Results: Confirmatory factor analysis supported the two‐factor analysis model including F1 (communication and self‐management) and F2 (examination behavior). Sufficient internal consistency and test‐retest reliability were demonstrated among the total 14 items, F1, and F2 (Cronbach's α > 0.80, intraclass correlation coefficient > 0.85). Convergent and discriminant validity for the 14 items and F1 were acceptable; however, F2 did not correlate significantly with the Rosenberg Self‐Esteem Scale and Independent Consciousness Scale. Regarding known‐groups validity, the older group had a significantly higher mean TRANSITION‐Q‐J score (50.05) than the younger group (43.28; P = 0.04). The same results were found for both F1 and F2. Conclusions: The TRANSITION‐Q‐J for adolescent patients with CCD was developed and its reliability and validity were verified. This scale is easy to administer. In addition to being a tool for transition period support, it could be used to verify effective factors and in program outcome evaluation, including intervention studies. [ABSTRACT FROM AUTHOR]

A 59-year-old man received a single-lung transplantation due to interstitial pneumonitis. Severe anastomotic pulmonary artery stenosis (PAS) resulting in hypoxia and respiratory symptoms was found in the immediate postoperative period. A scintigraphy showed severe hypoperfusion of the left transplanted lung with 7% of the total pulmonary blood flow. On postoperative days (POD) 29 and 64, the patient underwent serial balloon angioplasties without any complications. Based on the balloon selection criteria for PAS after heart surgery in children, a high-pressure large balloon was used with resultant improvement in respiratory signs and symptoms without any complications. The patient was discharged on POD 92. A follow-up scintigraphy on POD 169 revealed 58% of blood distribution to the left lung. The patient has been doing clinically well and remained asymptomatic one year after the transplantation. Balloon angioplasty with a high-pressure large balloon without stent implantation during an early postoperative period may be a safe and effective strategy. The balloon selecting criteria used in pediatric patients may be applied in the adult lung transplant recipients. < Learning objective: Anastomotic pulmonary artery stenosis (PAS) in a single-lung transplant recipient is a critical complication. A balloon angioplasty with a high-pressure large balloon should be a first choice for anastomotic PAS, because it is safer than stent implantation especially for transplant recipients. And the balloon selecting criteria used in children with congenital heart disease may be applied in the adult lung transplant recipients.> [ABSTRACT FROM AUTHOR]

Aim: Nurses are expected to have a role in the transition of care from pediatric to adult medical practices for adolescents and young adults with childhood‐onset chronic diseases. This study compares the experience, knowledge, and perceptions regarding the ideal care among adult unit and pediatric nurses regarding the transition to adult care for those with childhood‐onset chronic diseases. Methods: A cross‐sectional study using self‐report questionnaires was conducted with nurses in a tertiary hospital in Tokyo. Questions were generated based on a literature review and expert discussion. Data from 1,064 participants were analyzed (adult unit nurses: n = 959, 90.1%; pediatric nurses: n = 105, 9.9%). Results: Among 623 adult unit nurses who had care experience for adult patients with a childhood‐onset chronic disease, 458 nurses (73.6%) were unaware of the concept of transitional care. As the obstructive factors for transition, pediatric nurses recognized problems in healthcare providers' attitudes and lack of transitional care coordinators, while the adult unit nurses emphasized the patients' wishes to continue to receive pediatric healthcare. Most adult unit nurses expected pediatric nurses to function as transitional care coordinators. Conclusion: Adult unit and pediatric nurses had different perceptions of the barriers in transitioning children with chronic diseases to adult care. It is important to have educational programs focusing on transitional care for all nurses, both to enable pediatric nurses to improve transition readiness of children with chronic diseases and to offer adult patients with a childhood‐onset chronic disease continuing support through adult unit nurses. [ABSTRACT FROM AUTHOR]

Background: Variants in the LZTR1 (leucine‐zipper‐like transcription regulator 1) gene (OMIM #600574) have been reported in recessive Noonan syndrome patients. In vivo evidence from animal models to support its causative role is lacking. Methods: By CRISPR‐Cas9 genome editing, we generated lztr1‐mutated zebrafish (Danio rerio). Analyses of histopathology and downstream signaling were performed to investigate the pathogenesis of cardiac and extracardiac abnormalities in Noonan syndrome. Results: A frameshift deletion allele was created in the zebrafish lztr1. Crosses of heterozygotes obtained homozygous lztr1 null mutants that modeled LZTR1 loss‐of‐function. Histological analyses of the model revealed ventricular hypertrophy, the deleterious signature of Noonan syndrome‐associated cardiomyopathy. Further, assessment for extracardiac abnormalities documented multiple vascular malformations, resembling human vascular pathology caused by RAS/MAPK activation. Due to spatiotemporal regulation of LZTR1, its downstream function was not fully elucidated from western blots of adult tissue. Conclusion: Our novel zebrafish model phenocopied human recessive Noonan syndrome and supported the loss‐of‐function mechanism of disease‐causing LZTR1 variants. The discovery of vascular malformations in mutants calls for the clinical follow‐up of patients to monitor for its emergence. The model will serve as a novel platform for investigating the pathophysiology linking RAS/MAPK signaling to cardiac and vascular pathology. [ABSTRACT FROM AUTHOR]

Background: The precise mechanism of hyponatremia in Kawasaki disease (KD) remains elusive because assessment of volume status based on serial changes in body weight is lacking in previous reports. Methods: Seventeen patients who were diagnosed with KD and hyponatremia (serum sodium levels <135 mmol/L) were analyzed. Volume status was assessed based on serial changes in body weight. Plasma arginine vasopressin (ADH), urine electrolytes, and serum cytokine levels were measured on diagnosis of hyponatremia. An increase in body weight by >3% was defined as hypervolemia and a decrease in body weight by >3% was defined as hypovolemia. Results: The volume status was hypervolemic in three patients (18%), euvolemic in 14 (82%), and hypovolemic in none (0%). Five (29%) patients were diagnosed with "syndrome of inappropriate secretion of antidiuretic hormone" (SIADH) and no patients were diagnosed with hypotonic dehydration. The contribution of decreased total exchangeable cations (salt loss) to hyponatremia (5.9% [interquartile range, 4.3%, 6.7%]) was significantly larger than that of increased total body water (−0.7% [−1.8%, 3.1%]) (P = 0.004). Serum interleukin‐6 levels were elevated in all of the nine patients who were evaluated. Among the 12 (71%) patients who did not meet the criteria of SIADH and hypotonic dehydration, plasma ADH levels were inappropriately high in ten patients. These patients were also characterized by euvolemic or hypervolemic hyponatremia and salt loss, which might be compatible with a diagnosis of SIADH. Conclusions: Our study shows that hyponatremia in KD is euvolemic or hypervolemic and is associated with nonosmotic secretion of ADH and salt loss in the majority of patients. [ABSTRACT FROM AUTHOR]