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Objectives : Osteomyelitis (OM) and septic arthritis (SA) in childhood might cause complications, sequelae, or even death if diagnosis and treatment are delayed. Here, we examined the outcomes of OM / SA at a pediatric emergency core hospital in Japan. Methods : This was a single-center, retrospective, observational cohort study at a pediatric emergency core hospital in Japan. Pediatric outpatients who underwent magnetic resonance imaging at the hospital in the period 2012–2020 were recruited. Primary outcomes were sequelae, recurrent symptoms, chronicity, and death. Results : Fifteen OM / SA patients (9 OM, 4 SA, 2 OM+SA) were recruited. The identified major pathogens included methicillin-susceptible Staphylococcus aureus (40.0 %, n = 6) and methicillin-resistant S. aureus (13.3 %, n = 2). Mean time from onset to first hospital visit, hospitalization, and initiation of effective antibiotics was 2 days, 3.9 ± 1.8 days, and 4.9 ± 2.2 days, respectively. All OM / SA patients recovered without complications or sequelae. Conclusions : In this study, all patients with OM / SA showed a good prognosis. Despite the small sample size, this pilot study suggests that the pediatric emergency core system in Japan provides early treatment and a good prognosis for patients diagnosed with OM / SA.

Background : In clinical practice, a large proportion of patients with multiple congenital anomalies and/or intellectual disabilities (MCA/ID) lacks a specific diagnosis. Recently, next-generation sequencing (NGS) has become an efficient strategy for genetic diagnosis of patients with MCA/ID. Objective : To review the utility of NGS for the diagnosis of patients with MCA/ID. Method : Patients with MCA/ID were recruited between 2013 and 2017. Molecular diagnosis was performed using NGS-based targeted panel sequencing for 4,813 genes. Promising causative variants underwent confirmation by Sanger sequencing or chromosomal microarray. Results : Eighteen patients with MCA/ID were enrolled in this study. Of them, 8 cases (44%) were diagnosed by targeted panel sequencing. Most of diagnosed patients were able to receive better counseling and more appropriate medical management. Conclusion : NGS-based targeted panel sequencing seems to be an effective testing strategy for diagnosis of patients with MCA/ID.

Natural rubber latex (NRL) allergy is one of the most important causes of severe anaphylaxis during medical intervention. We report a pediatric case of latex allergy with multiple surgical histories. A 12-year-old girl developed anaphylactic shock during the pyeloplasty for ureteropelvic junction restenosis. Latex gloves or medications used during the surgery were suspected to be the cause of anaphylactic shock. We diagnosed her latex allergy on the basis of the results that serum latex-specific IgE, skin prick tests of extract from NRL gloves and recombinant Hev b 6.02 solution were positive. Basophil activation test of NRL gloves was also positive, supporting the diagnosis of immediate allergic reactions caused by NRL. It was speculated that a history of multiple surgeries in infancy became a trigger of sensitization to latex in this patient. Reoperation after the diagnosis of NRL allergy was carried out in a latex-free environment and completed without any allergic symptoms. It would be necessary to perform the pre-screening of latex allergy to prevent the onset of latex allergy especially in the patients with multiple surgical histories.

The strategy for an infant with congenital mitral stenosis should be determined by three important factors : left ventricular volume, the degree of the systemic outflow tract obstruction, and the type of mitral valve dysfunction. A successful staged biventricular repair in early infancy for a patient who had congenital mitral stenosis with short chordae, hypoplastic left ventricle and coarctation of the aorta, and the long-term results are described. There were the following important hemodynamic factors that led to the successful biventricular repair in the patient. Total systemic output was barely supplied through the hypoplastic left ventricle after closure of the ductus arteriosus on admission. The neonate underwent repair of coarctation of the aorta alone as the initial stage at 9 days after birth. Also, spontaneous closure of the foramen ovale following repair of coarctation of the aorta accelerated the progressive left ventricular growth. Open mitral commissurotomy with an interatrial fenestration using the modified Brawley’s approach was performed for a 40-day-old infant. Good left ventricular growth and good mitral valve function have been observed for 18 years after open mitral commissurotomy. Appropriate early augmentation of left ventricular inflow through the mitral valve might be effective for growth of a hypoplastic left ventricle.

Background: The temporal sequence of right ventricular (RV) deformation is related to RV dysfunction. The sequence of RV free wall contraction was investigated. Methods and Results: In this prospective study, strain profiles using speckle-tracking echocardiography and tissue Doppler-derived pulmonary and tricuspid annular motion were assessed in 60 normal children. Circumferential RV free wall strain of 3 individual segments (anterior, lateral, and inferior) was evaluated. Longitudinal strain was assessed in 3 individual segments (RV outflow tract [RVOT], apical, and RV inflow tract [RVIT]). The isovolumetric contraction time (ICT) and the time interval between the onset of the QRS wave to the peak s’ wave were measured for pulmonary and tricuspid annular motion velocities. The time to peak circumferential strain was significantly lower in the anterior than in the lateral and inferior segments (339.1±19.5, 358.3±21.8, and 366.6±22.4 ms, respectively; P<0.0001). Longitudinal deformation of the RVOT segment occurred before the apical and RVIT segments (351.8±23.1, 366.3±20.1, and 369.2±21.3 ms, respectively; P<0.0001). The ICT and the time to peak s’ were significantly shorter in pulmonary than in tricuspid annular motion (49.4±10.1 vs 58.0±13.2 ms; and 104.7±12.2 vs. 160.5±27.1 ms; P<0.0001 for each). Conclusions: Longitudinal deformation of RVOT precedes RVIT. Circumferential deformation occurs in the anterior segment before the lateral and posterior segments. The presence of mechanical time heterogeneity appears important for RV performance.

Severe-type Kawasaki disease (KD) complicated by serious myocarditis and encephalopathy can be successfully treated without abnormality of the coronary arteries by steroid pulse treatment and intravenous immunoglobulin (IVIg). A 4-year-old Japanese girl was diagnosed with KD due to a 6-day history of fever, rash, flushed lips, conjunctival hyperemia, palmar edema, and cervical lymphadenopathy. The day after initiation of IVIg and aspirin, cardiac gallop rhythm was identified. Cardiac ultrasonography revealed severe left ventricular dysfunction. Disturbance of consciousness, hallucinations, and slurred speech were also observed. Magnetic resonance imaging showed no abnormalities, but electroencephalography revealed high-voltage slow waves. Despite this serious disease, cardiac function and neurological abnormalities showed complete recovery without dilatation of the coronary arteries by steroid pulse treatment and additional IVIg. Follow-up at 15 months revealed no abnormality of the coronary arteries. In conclusion, we suggest that early combined treatment with steroid and IVIg is effective for serious KD complicated by myocarditis and encephalopathy.

Although chromosome 1p36 deletion syndrome is considered clinically recognizable based on characteristic features, the clinical manifestations of patients during infancy are often not consistent with those observed later in life. We report a 4-month-old girl who showed multiple congenital anomalies and developmental delay, but no clinical signs of syndromic disease caused by a terminal deletion in 1p36.32-p36.33 that was first identified by targeted-exome sequencing for molecular diagnosis.