Hidehiko Maruyama

Verification of risk scores to predict i.v. immunoglobulin resistance in incomplete Kawasaki disease

A recent study indicated the efficacy of the addition of prednisolone to i.v. immunoglobulin (IVIG) as initial treatment in patients with higher risk of IVIG resistance. Several different risk scores for predicting IVIG resistance have been proposed, mainly based on typical Kawasaki disease (KD) patients. We investigated the utility of the risk scores to predict IVIG resistance in incomplete KD.

Late-onset Lymphedema and Protein-losing Enteropathy with Noonan Syndrome

Noonan syndrome is characterized by facial dysmorphology, congenital heart disease and growth failure. Although it is also accompanied by deranged lymph-vessel formation, protein-losing enteropathy (PLE) with Noonan syndrome is rarely reported. We report clinical information about a boy with Noonan syndrome and late-onset lymphedema and PLE after standing for long periods of time during athletic practice sessions. The boy recovered from lymphedema and PLE after administration of 2.5 g of albumin followed by resting and raising his legs. They did not recur after he began walking again. Standing for long periods of time congested the lymph stream at the abdominal lymph vessel, whose formation is frequently disturbed in Noonan syndrome, and the increased pressure caused lymphedema and PLE. PLE is one of the clinical manifestations of Noonan syndrome.

Unique maternal deletion of 15q in a patient with some symptoms of Prader-Willi syndrome

Abstract Background : Human chromosome 15q11‐q13 is a critical region for Prader‐Willi syndrome (PWS) and Angelman syndrome (AS) and most of the genes are under the condition of imprinting mechanism. PWS results from the loss of expression of paternally expressed genes and AS of maternally expressed genes. In this study molecular studies about a patient with congenital anomalies and mental retardation are analyzed.

Minimally Conjoined Omphalopagus Twins with a Body Stalk Anomaly.

Introduction This report will discuss a case of minimally conjoined omphalopagus twins (MCOTs) with a body stalk anomaly (BSA). Case Report We experienced monochorionic diamniotic (MD) twins born at 31 weeks. One infant was suspicious of BSA before birth, and another infant was normal. But normal infant had anal atresia with small intestine which was inserted behind the umbilicus. Twins had very short common umbilicus and infant with BSA had intestinal conjunction, two appendixes at the site of the colon, and a blind-ending colon. We diagnosed MCOTs. Discussion On the basis of the Spencer hypothesis, the etiology of MCOTs was that MD twins shared a yolk sac. However, this could not explain the presence of a BSA. It is necessary to consider the possible reasons for a singleton BSA. In addition, intestinal fusion occurred unequally in this case, although two appendixes were found in the same place, which might have occurred because of the balanced fusion.

Maximization of calcium and phosphate in neonatal total parenteral nutrition

Appropriate calcium and phosphate supplementation is essential for bone growth in preterm infants. Using Rehabix‐K2™ (AY Pharmaceuticals, Tokyo, Japan) and Pleamin‐P Injection™ (Fuso Pharmaceutical Industries, Osaka, Japan) as the total parenteral nutrition (TPN) and amino acid solution, respectively, we investigated ways of maximizing calcium and phosphate in the TPN solution.

Longitudinal analysis of Epstein–Barr virus-associated illness

© 2008 Japan Pediatric Society Host immune status, such as cytokine production by activated cells, and immunodefi cient status with respect to other pathogens, complicates the pathogenesis of Epstein – Barr virus (EBV)associated illnesses, such as EBV-associated hemophago cytic syndrome (EBV-AHS) and chronic active EBV infection (CAEBV). 1 – 3 But no report has assessed the relationship between EBV load and cytokine profi les. Here we report two cases of EBV-associated illness that presented as EBV-AHS, with longitudinal analyses of both the EBV load and cytokine profi le.