Multiple endocrine neoplasia type 2B diagnosed after small intestinal volvulus with progressive megacolon in an adolescent.

Multiple endocrine neoplasia type 2B is a rare autosomal dominant disease characterized by the presence of medullary thyroid carcinoma, pheochromocytoma, Marfan-like fatigue, a peculiar face with thickening of the lips, mucosal neuromas on the lips and tongue, and gastrointestinal phenomena. Most patients harbor pathological variants of the RET gene. Herein, we present the first case of a 14 year-old boy who experienced small intestinal volvulus along with a megacolon, and he was diagnosed with multiple endocrine neoplasia type 2B.

A strategy to prevent tracheo-innominate artery fistula in the course of laryngotracheal separation: 9-year experience in a children's hospital.

Aim Of The Study: Laryngotracheal separation (LTS) is known to be the definitive solution for intractable aspiration pneumonia in neurologically impaired children. Postoperatively, a tracheostomy cannula is usually required. However, there are fatal cannula related complications such as a tracheo-innominate artery fistula (TIAF).

Novel Causative Mutation in a Japanese Family with Hirschsprung's Disease: Case Report and Factors Impacting Disease Severity.

gene variances confer susceptibility to Hirschsprung's disease (HSCR) with pathogenetic mutations being identified in half of familial cases. This investigation of familial HSCR was aimed to clarify the relationship between genetic mutations and clinical phenotype using next-generation sequencing. A novel c2313C > G(D771E) mutation was identified in all three affected family members.

Preoperative sonographic evaluation of the defect size and the diaphragm rim in congenital diaphragmatic hernia - preliminary experience.

Background: Sonographic assessment before congenital diaphragmatic hernia repair has rarely been studied.

Objective: To evaluate the accuracy of preoperative ultrasound in measuring the defect size and in anticipating the presence of a rim and thereby to determine ultrasound's usefulness in informing the surgical approach for definitive repair of congenital diaphragmatic hernia.

Materials And Methods: We performed a retrospective review of the medical records of seven children with left congenital diaphragmatic hernia who had undergone ultrasound and definitive repair between 2014 and 2017 at our institution.

Safety and efficacy of noncardiac surgical procedures in the management of patients with trisomy 13: A single institution-based detailed clinical observation.

Intensive treatment including surgery for patients with trisomy 13 (T13) remains controversial. This study aimed to evaluate the safety and efficacy of noncardiac surgical intervention for T13 patients. Medical records of patients with karyotypically confirmed T13 treated in the neonatal intensive care unit in Nagano Children's Hospital from January 2000 to October 2016 were retrospectively reviewed, and data from patients who underwent noncardiac surgery were analyzed.

Long-term follow-up for anicteric survival with native liver after redo Kasai: a first report.

Purpose: We present a first report of the long-term follow-up of biliary atresia (BA) patients who became anicteric with the native liver (ANL; total bilirubin <1.5mg/dL) after redo-Kasai.

Methods: Forty-six redo-Kasai cases (1984-2015) were the subjects for this study.

[Abnormal Serum Total Protein Measurement by Lipoprotein-X in an Infant with Biliary Atresia].

Lipoprotein-X (LP-X) in cholestatic jaundice causes abnormal reaction in assays for low-density lipoprotein-cholesterol, but the effects on other test items are unknown. Here, we report an infant with biliary atresia showing abnormal reaction in total serum protein assay using the biuret method, and lipoprotein-X (LP-X) was then detected. In this 11-month-old female infant, jaundice was observed at 2 months old, and a diagnosis of biliary atresia was made.

Full-mesh T- and O-band wavelength router based on arrayed waveguide gratings.

We propose an ultra-broadband full-mesh wavelength router supporting the T- and O-bands using 3 stages of cascaded arrayed waveguide gratings (AWGs). The router architecture is based on a combination of waveband and channel routing by coarse and fine AWGs, respectively. We fabricated several T-band-specific silica-based AWGs and quantum dot semiconductor optical ampliers as part of the router, and demonstrated 10 Gbps data transmission for several wavelengths throughout a range of 7.

Extraosseous Ewing sarcoma in the mesentery: the first report of cases in children.

Extraosseous ewing sarcoma (EES) is a rare soft-tissue tumor usually found in the extremities or paraspinal region. We describe the case of a 4-year-old boy with a large cystic mass in the mesentery diagnosed as mesenteric lymphangioma preoperatively and as EES after partial resection and histopathological examination. EES in the mesentery is extremely rare, with only 2 reports described in the English literature.

Surgical intervention for esophageal atresia in patients with trisomy 18.

Trisomy 18 is a common chromosomal aberration syndrome involving growth impairment, various malformations, poor prognosis, and severe developmental delay in survivors. Although esophageal atresia (EA) with tracheoesophageal fistula (TEF) is a potentially fatal complication that can only be rescued through surgical correction, no reports have addressed the efficacy of surgical intervention for EA in patients with trisomy 18. We reviewed detailed clinical information of 24 patients with trisomy 18 and EA who were admitted to two neonatal intensive care units in Japan and underwent intensive treatment including surgical interventions from 1982 to 2009.

First isolation of oleate-dependent Enterococcus faecalis small-colony variants from the umbilical exudate of a paediatric patient with omphalitis.

An oleate-dependent Enterococcus faecalis isolate representing small-colony variants (SCVs) was isolated from the umbilical exudate of a 31-month-old Japanese male patient in Nagano Children's Hospital, Azumino, Japan. The patient had been suffering from recurrent omphalitis since early infancy. The initial E.

Successful tracheobronchial reconstruction of communicating bronchopulmonary foregut malformation and long segment congenital tracheal stenosis: a case report.

Communicating bronchopulmonary foregut malformation (CBPFM) and congenital tracheal stenosis (CTS) are difficult developmental disorders especially when they are presented simultaneously in a patient. The authors report a case of a newborn boy born at 37 weeks of gestation weighing 2356 g with CBPFM (right esophageal lung) and long segment CTS. Staged surgical repair (by-force endotracheal intubation for securing the airway followed by bronchotracheal anastomosis for CBPFM, tracheostomy with handmade, length-adjustable tracheostomy tube, and slide tracheoplasty) was performed.

IL-15-high-responder developing NK cells bearing Ly49 receptors in IL-15-/- mice.

In mice lacking IL-15, NK cell development is arrested at immature stages, providing an opportunity to investigate the earliest developing NK cells that would respond to IL-15. We show in this study that immature NK cells were present in the spleen as well as bone marrow (BM) and contained IL-15-high-responder cells. Thus, mature NK cells were generated more efficiently from IL-15(-/-) than from control donor cells in radiation BM chimeras, and the rate of IL-15-induced cell division in vitro was higher in NK cells in the spleen and BM from IL-15(-/-) mice than in those from wild-type mice.

Umbilical cord inverting technique: a simple method to utilize the umbilical cord as a biologic dressing for sutureless gastroschisis closure.

A sutureless gastroschisis closure provides a cosmetically appealing outcome. The umbilical cord is usually used as a covering material in a sutureless closure because it is a native tissue. However, during the staged closure with a silo placement, special attention is required to keep the umbilical cord moist.

Umbilical cord cysts of allantoic and omphalomesenteric remnants with progressive umbilical cord edema: a case report.

We present a unique case of umbilical cord cysts of allantoic and omphalomesenteric remnants with progressive cord edema during pregnancy. Enlargement of the umbilical cord was observed initially at 28 weeks' gestation; the cord cysts were first recognized at 17 weeks. At 37 weeks, a cesarean section was performed and a male infant weighing 2,300 g was delivered.

Hernia of the umbilical cord and associated ileal prolapse through a patent omphalomesenteric duct: prenatal ultrasound and MRI findings.

Background: It is quite unusual for a fistula to communicate directly with the surface of the hernia sac, and associated prolapse of the ileum through a patent omphalomesenteric duct is also extremely rare.

Objectives: We report a unique case of a fetus exposed to methimazole in utero, with a hernia of the umbilical cord and associated ileal prolapse through a patent omphalomesenteric duct.

Methods And Results: In this case, the umbilical cord was attached to a small unruptured omphalocele, to the right of which a small everted loop of the ileum had evaginated.