Kanagawa Children's Medical Center

Pathogenic variants in KCNT1, a gene encoding a sodium-activated potassium channel, are classically associated with severe early-onset epileptic encephalopathies. Emerging evidence indicates that some individuals with KCNT1-related disorders also develop systemic-to-pulmonary vascular anomalies, often initially misidentified as major aortopulmonary collateral arteries (MAPCAs) due to radiographic similarities with congenital heart disease. Unlike true MAPCAs, these vessels arise in the absence of structural cardiac defects and appear to result from abnormal angiogenesis driven by dysregulated KCNT1-mediated signaling. Misclassification may lead to inappropriate interventions or management strategies. Here, a multidisciplinary expert working group reviewed published cases, institutional experience, and imaging findings to develop an expert opinion for nomenclature, diagnosis, and management of these vascular anomalies. We recommend adopting the term systemic-pulmonary collaterals (SPCs) to accurately describe these angiogenic vessels. Risk-based screening, judicious catheter-based embolization when physiologically indicated, and careful avoidance of standard pulmonary vasodilators are emphasized. This statement aims to improve clinical recognition, precision in terminology, and safe management of vascular complications in patients with KCNT1-related disorders.

The objective was to prepare guidelines to perform the current optimum treatment by organizing effective and efficient treatments of hemangiomas and vascular malformations, confirming the safety, and systematizing treatment, employing evidence-based medicine techniques and aimed at improvement of the outcomes. Clinical questions (CQs) were decided based on the important clinical issues. For document retrieval, key words for literature searches were set for each CQ and literature published from 1980 to the end of December 2020 was searched in PubMed and Japana Centra Revuo Medicina (JCRM). The strengths of evidence and recommendations acquired by systematic reviews were determined following the Medical Information Network Distribution Service (Minds) technique. A total of 38 CQs were used to compile recommendations and the subjects included efficacy of resection, sclerotherapy/embolization, drug therapy, laser therapy, radiotherapy, and other conservative treatment, differences in appropriate treatment due to the location of lesions and among symptoms, appropriate timing of treatment and tests, pathological diagnosis deciding the diagnosis, and causal genes of vascular anomalies. Thus, the Japanese Clinical Practice Guidelines for Vascular Tumors, Vascular Malformations, Lymphatic Malformations, and Lymphangiomatosis 2022 have been prepared as the evidence-based guidelines for the management of vascular anomalies.

To establish objective criteria for predicting postnatal respiratory symptoms and determine surgical indications in fetuses with double aortic arch (DAA). This single-center, retrospective cohort study included fetuses diagnosed with DAA using fetal echocardiography and managed perinatally at Kanagawa Children’s Medical Center from January 2013–December 2024. Clinical data, fetal echocardiography, postnatal contrast-enhanced computed tomography (CT) findings, surgical intervention, and outcomes were reviewed. Narrowest tracheal diameter (NTD) Z score in late gestation and narrowest-to-reference tracheal area (NTA/RTA) ratio on postnatal CT were measured. Primary and secondary outcomes included respiratory symptoms shortly after birth and elective surgery, respectively. Groups were compared using t-tests, and the optimal cutoff values were determined using receiver operating characteristic (ROC) curve analysis. Reproducibility was assessed using intraclass correlation coefficient. Twenty-two patients were included: 5 symptomatic and 17 asymptomatic (12, prophylactic surgery; 5, observation). Symptomatic patients had significantly lower NTD Z scores (median − 1.8 vs. −1.2, P = 0.012) and NTA/RTA ratios (median 0.39 vs. 0.67, P < 0.001). NTD Z score ≤ − 1.7 (area under the ROC curve [AUC] 0.87; sensitivity 80

ObjectiveCLEFT-Q is a questionnaire to assess patient-reported outcomes specific to individuals with cleft. The purpose of the present study is to evaluate the construct validity of Japanese version of CLEFT-Q by evaluating how the scores of CLEFT-Q relate to participants' subjective and clinicians' objective evaluations. Participants were asked to fill in CLEFT-Q and report whether they desired improvement or additional surgery for their cleft-related conditions and whether they attended/enjoyed going to schools. Objective evaluations were collected from clinicians.DesignProspective observational study.SettingFive institutions in Japan.ParticipantsOne hundred and eleven individuals with cleft lip, palate, and alveolus between 8 and 17 years old.Interventionsnone.Main Outcome MeasuresCLEFT-Q scores were compared to respondents' subjective and clinicians' objective evaluations.ResultsThe CLEFT-Q face, nose, nostrils, speech, distress with speech, teeth, and eating and drinking scales were significantly lower for the individuals who desired improvement or additional surgery. CLEFT-Q school and social scales were significantly lower for individuals who did not enjoy going to school. All CLEFT-Q appearance-related scales were significantly lower for individuals who were rated as having less-favorable outcomes by clinicians. The CLEFT-Q psychological scale was associated neither with respondents' subjective nor clinicians' objective evaluations.ConclusionsThis study confirmed the construct validity of the Japanese version of CLEFT-Q through hypothesis testing and known group comparisons for 12 out of 13 scales, except for the psychological scale. These findings provide a scientific basis for the use of CLEFT-Q in Japan to collect and evaluate outcomes based on patients' perspectives.