Medical records, angiograms and operative records of 28 patients with partial anomalous pulmonary venous connection (PAPVC) were reviewed. Twenty patients had one anomalous pulmonary vein (APV), and 8 had more than two APVs. Twenty-five patients (89%) had APVs originating from the right lung, 2 (7%) from the left lung and 1 (4%) from both lungs. In the 25 patients with APVs originating from the right lung, 9 had APVs draining into the superior vena cava (SVC), 13 into the right atrium (RA), 1 into the inferior vena cava (IVC) and 2 into both the SVC and RA. In the 2 patients with APVs originating from the left lung, 1 had APVs draining into the RA, and the other had APVs draining into the innominate vein. The patient with APVs originating from both lungs had connection to the IVC. Twenty-three patients (82%) had additional cardiovascular defects. Surgery was performed in 13 patients who had pulmonary/systemic flow ratios greater than 2.0. The patients have done well after surgery. In 7 patients, we were unable to accurately determine the number or sites of drainage of APVs prior to surgery. We conclude that selective pulmonary angiography is indispensable for the accurate diagnosis of PAPVC.

Edited by Velia M. FowlerDOCK8 is an atypical guanine nucleotide exchange factor for Cdc42, and its mutations cause combined immunodeficiency in humans. Accumulating evidence indicates that DOCK8 regulates the migration and activation of various subsets of leukocytes, but its regulatory mechanism is poorly understood. We here report that DOCK8-deficient macrophages exhibit a migration defect in a 2D setting. Although DOCK8 deficiency in macrophages did not affect the global Cdc42 activation induced by chemokine stimulation, rescue experiments revealed that the guanine nucleotide exchange factor activity of DOCK8 was required for macrophage migration. We found that DOCK8 associated with LRAP35a, an adaptor molecule that binds to the Cdc42 effector myotonic dystrophy kinase-related Cdc42-binding kinase, and facilitated its activity to phosphorylate myosin II regulatory light chain. When this interaction was disrupted in WT macrophages, they showed a migration defect, as seen in DOCK8-deficient macrophages. These results suggest that, during macrophage migration, DOCK8 links Cdc42 activation to actomyosin dynamics through the association with LRAP35a.

ObjectiveTo delineate the critical decision-making processes that paediatricians apply when treating children with life-threatening conditions and the psychosocial experience of paediatricians involved in such care.DesignWe conducted semistructured, individual face-to-face interviews for each participant from 2014 to 2015. The content of each interview was subjected to a comprehensive qualitative analysis. The categories of dilemma were extracted from a second-round content analysis.ParticipantsParticipants were board-certified paediatricians with sufficient experience in making decisions in relation to children with severe illnesses or disabilities. We repeated purposive sampling and analyses until we reached saturation of the category data.ResultsWe performed interviews with 15 paediatricians. They each reported both unique and overlapping categories of dilemmas that they encountered when making critical decisions. The dilemmas included five types of causal elements: (1) paediatricians’ convictions; (2) the quest for the best interests of patients; (3) the quest for medically appropriate plans; (4) confronting parents and families and (5) socioenvironmental issues. Dilemmas occurred and developed as conflicting interactions among these five elements. We further categorised these five elements into three principal domains: the decision-maker (decider); consensus making among families, colleagues and society (process) and the consequential output of the decision (consequence).ConclusionsThis is the first qualitative study to demonstrate the framework of paediatricians’ decision-making processes and the complex structures of dilemmas they face. Our data indicate the necessity of establishing and implementing an effective support system for paediatricians, such as structured professional education and arguments for creating social consensus that assist them to reach the best plan for the management of severely ill children.

Hajdu-Cheney syndrome is an autosomal dominant disorder characterized by acroosteolysis of the distal phalanges associated with digit abnormalities, distinctive craniofacial changes, dental anomalies, and a proportionate short stature. The pubertal development of children with Hajdu-Cheney syndrome is usually normal in the literature, although we here first describe a girl who was found to have Hajdu-Cheney syndrome accompanied with premature ovarian failure. She showed a follicle-stimulating hormone-dominant response on luteinizing hormone-releasing hormone test and did not show any sex differentiation abnormality or adrenal steroid hormone deficiency. On the basis of the findings in our patient, premature ovarian failure may be a complication of Hajdu-Cheney syndrome and thus an early endocrinological evaluation of patients is important.

Background: In November 2011, rotavirus (RV) vaccine was launched in Japan as a voluntary vaccination to prevent RV-associated gastroenterocolitis. We examined the characteristics of intussusception following RV vaccination in our two centers. Methods: We investigated intussusception patients <16 years old from January 2006 to September 2020. Patients were categorized according to the period (before [Group A] or after the introduction of arbitrary RV vaccination [Group B]). The patient characteristics and treatment of intussusception were retrospectively investigated. Results: During the study period, 560 patients (group A, n = 233; group B, n = 327) were identified. The distribution of patients who were 0-6 months old was not significantly different between the groups (group A, n = 12, 5.2%; group B, n = 18, 5.5%). Among these 18 patients in Group B, 7 were vaccinated against RV, and 10 were not. One patient was excluded due to incomplete data. On comparing patients with and without RV vaccination, the mean age at the onset of intussusception was 3.3 AE 0.4 versus 4.0 AE 0.3 months (P = 0.19), the mean interval from the onset to treatment was 7.5 AE 2.4 versus 16.0 AE 2.2 h (P = 0.03), the time of the contrast enema for treatment was 9.1 AE 3.3 versus 7.7 AE 2.8 min (P = 0.76), and the final pressure of the contrast enema was 92.5 AE 4.4 versus 92.2 AE 4.4 cmH 2 O (P = 0.97). Conclusions: Arbitrary RV vaccination did not influence the age distribution of intussusception, and the interval from the onset to treatment was significantly shorter in the patients with RV vaccination than in those without it. Recognizing the presence of intussusception following RV vaccination enables accurate treatment.