Age-dependent prognostic effect by Mitosis-Karyorrhexis Index in neuroblastoma: a report from the Children's Oncology Group.

Prognostic effects of Mitosis-Karyorrhexis Index (MKI) used in the International Neuroblastoma Pathology Classification (INPC) are age-dependent. A total of 4,282 neuroblastomas reviewed at the Children's Oncology Group Neuroblastoma Pathology Reference Laboratory (8/1/2001-3/31/2012) included 2,365 low-MKI (L-MKI), 1,068 intermediate-MKI (I-MKI), and 849 high-MKI (H-MKI) tumors. Cox proportional hazards models were fit to determine age cut-offs at which the relative risk of event/death was maximized in each MKI class.

Identification of a KEAP1 germline mutation in a family with multinodular goitre.

Background: The familial clustering of multinodular goitres (MNGs) with a dominant mode of inheritance has been repeatedly reported. Linkage studies have revealed several genetic loci responsible for familial MNG; however, most of the causative variants remain unknown.

Methods And Results: Through linkage analysis using single-nucleotide polymorphism markers, we identified a new MNG locus on 19p13.

Correlation between the number of segmental chromosome aberrations and the age at diagnosis of diploid neuroblastomas without MYCN amplification.

Background: In neuroblastomas (NBs) without MYCN amplification, segmental chromosome aberrations SCAs such as 1p loss, 11q loss, and 17q gain have been suggested to be associated with the prognosis of the patients. We assessed the correlation between the number of SCAs and other biological factors in primary NBs samples.

Method: The status of SCAs in 54 primary NBs samples was analyzed using the single-nucleotide polymorphism (SNP) array (Human CMV370-Duo; Illumina, San Diego, CA).

The utility of muscle sparing axillar skin crease incision for pediatric thoracic surgery.

Background: Posterolateral or standard axillar incisions for the pediatric thoracic surgery are occasionally associated with poor motor as well as cosmetic results, including chest deformities and large surgical scars. A muscle sparing axillar skin crease incision (MSASCI) was initially proposed by Bianchi et al. (in J Pediatr Surg 33:1798-1800, 1998) followed by Kalman and Verebely (in Eur J Pediatr Surg 12:226-229, 2002) resulting in satisfactory cosmetics.

Identification of TCTE3 as a gene responsible for congenital diaphragmatic hernia using a high-resolution single-nucleotide polymorphism array.

Purpose: Congenital diaphragmatic hernia (CDH) is a birth defect of the diaphragm associated with pulmonary hypoplasia. Although genetic factors have been suggested to play a role, the etiology of CDH is still largely unknown. In this study, we analyzed copy number variants (CNVs) using a single-nucleotide polymorphism (SNP) array to examine whether microdeletions contribute to the pathogenesis of this disease.

The genetic and clinical significance of MYCN gain as detected by FISH in neuroblastoma.

Purpose: MYCN amplification (MYCN-A) is a strong prognostic factor in neuroblastoma (NB). MYCN gain which is a low level of MYCN-A as determined by FISH. It is unclear whether the MYCN gain is the pre-status of MYCN-A.

Effect of insulin-like growth factors on lung development in a nitrofen-induced CDH rat model.

Purpose: Both the mortality and morbidity associated with congenital diaphragmatic hernia (CDH) are mainly caused by pulmonary hypoplasia and persistent pulmonary hypertension. A previous study revealed that insulin-like growth factors (IGFs) play important roles in fetal lung development. The aim of this study was to investigate the effect of IGF-1 and IGF-2 on tissue cultures of fetal hypoplastic lungs obtained from nitrofen-induced CDH model rats.

Usefulness of exchanging a tunneled central venous catheter using a subcutaneous fibrous sheath.

Objectives: The reserve of the venous route to the central veins is important for long-term parenteral nutrition (PN). Frequent catheter-related bloodstream infection (CRBSI) induces occlusion of the venous routes. Therefore, a modified exchange procedure using a tunneled central venous catheter (CVC) with a fibrous sheath was developed to preserve the route to the central veins.

Clinical features of Hirschsprung's disease associated with Down syndrome: a 30-year retrospective nationwide survey in Japan.

Purpose: To identify the clinical features in diagnosis and treatment of Hirschsprung's disease (HD) associated with Down syndrome (DS), the authors retrospectively analyzed data for patients with DS from the past 3 nationwide surveys in Japan. This survey was already approved by the Japanese Society of Pediatric Surgeons.

Methods: Patient data were collected in 3 phases-phase I (1978-1982), n = 47; phase II (1988-1992), n = 79; and phase III (1998-2002), n = 90.

Connexin43 plays an important role in lung development.

Objectives: Connexin43 (Cx43) is one of the proteins associated with gap junction. Connexin43 knockout mice die after birth owing to hypoplastic lungs. The purpose of this study was to analyze the hypoplastic lung of Cx43 knockout mice to clarify the role of the Cx43 during lung development.

Duodenal stenosis resulting from a preduodenal portal vein and an operation for scoliosis.

A preduodenal portal vein (PDPV) is known to be a rare cause of duodenal stenosis. We treated a 22-year-old male patient with malnutrition as a result of PDPV and a previously performed operation for scoliosis, who showed an improvement in quality of life after being treated with a combination of nutritional support and surgery. The patient with PDPV had been admitted to our department with duodenal stenosis, ranging from the first to third portions.

Hirschsprung's disease patients diagnosed at over 15 years of age: an analysis of a Japanese nationwide survey.

Purpose: Hirschsprung's disease (HD) is usually diagnosed in patients who are under 1 year of age, however, there are still several reports of adult HD cases. We herein analyzed the data of HD patients collected over 30 years according to a nationwide survey in Japan.

Methods: The data of HD patients over 15 years of age were thus selected in three phases, namely from 1978 to 1982, from 1988 to 1992, and from 1998 to 2002.

Improvement in the outcome of patients with antenatally diagnosed congenital diaphragmatic hernia using gentle ventilation and circulatory stabilization.

Background/objectives: No definitive treatment strategy has been established for patients with an antenatal diagnosed congenital diaphragmatic hernia (AD-CDH). From 1997 to 2003 in this department fetal stabilization (FS) was administered using both morphine and diazepam via the placenta just before delivery of the fetus by cesarean section. In contrast, from 2004 to the present, a combination of gentle ventilation (GV) and a delayed operation was selected, which was performed when the patient's circulatory stabilization (CS) was achieved.

Need for thiamine in peripheral parenteral nutrition after abdominal surgery in children.

Background: Thiamine blood concentrations of pediatric patients receiving peripheral parenteral nutrition change during the postoperative period. In addition, the need to administer thiamine after surgery has not yet been fully studied in children receiving peripheral parenteral nutrition.

Objective: The objective of this prospective study is to clarify whether pediatric patients require the administration of thiamine while receiving peripheral parenteral nutrition after abdominal surgery.

A new method of transanal catheter fixation for neonates with long segment-type Hirschsprung's disease.

We managed long-segment aganglionosis in two neonates by performing colonic irrigation through an indwelling transanal catheter for 65 and 30 days, respectively, until a laparoscopy-assisted primary pull-through operation could be performed. The catheter was fixed by tying it to the tubes, criss-crossed at the anus, and securing the opposite ends of the tubes away from the diaper. This form of management with our devised method of transanal catheter fixation and simple frequent tube washouts improved the preoperative quality of life of both the babies and their parents remarkably.