Tracheostomy for the pediatric patient with fibrodysplasia ossificans progressiva: a case report.

Background: Fibrodysplasia ossificans progressiva (FOP) is an extremely rare connective tissue disease characterized by subsequent ossification of skeletal muscles, tendons, ligaments, and other fibrous tissues. The ossification of these tissues progresses during childhood and leads to limb and trunk deformities. Since any surgery may trigger subsequent ossification, it is relatively contraindicated for patients with FOP.

Positive C4d staining of the portal vein endothelium in the liver of patients with biliary atresia: a role of humoral immunity in ongoing liver fibrosis.

Purpose: This study aimed to clarify the role of complement activation in fibrogenesis in BA.

Methods: In total, 27 paraffin-embedded liver biopsy samples were immunohistochemically analyzed using C4d polyclonal antibody, vascular cell adhesion molecule-1 (VCAM-1), and CD45. The liver samples were obtained from 25 patients during Kasai operation, and two additional specimens were obtained from 2 patients by needle biopsy later at the time of liver function deterioration.

Long-term survival with cloacal dysgenesis sequence.

Cloacal dysgenesis sequence (CDS) is a rare and lethal malformation. We report such a case of long-term survival, currently to 12 years of age. In the fetal period, she received a timely placement of vesico-amniotic shunt for a megabladder due to a severe urethral obstruction.

Minimally invasive repair of hypospadiac urethral duplication.

Urethral duplication is a rare congenital anomaly with various clinical presentations, and multiple techniques have been described for its repair. We report a 1-year-old boy with hypospadiac urethral duplication who presented with double urinary stream. Voiding cystourethrography, retrograde urethrography, and cystourethroscopy showed the normal-caliber ventral urethra was dominant and the distal dorsal (non-dominant) urethra had a good caliber.

Intrahepatic biliary cysts in children with biliary atresia who have had a Kasai operation.

Purpose: In patients with biliary atresia who had undergone a Kasai operation, treatment of intrahepatic biliary cysts (IBCs), particularly when complicated by cholangitis, is often difficult because the clinical implications and the course of IBCs are unclear. Thus, to determine the best treatment guideline, the morphology of IBCs, the clinical course, and the outcomes of such patients were evaluated.

Patients And Methods: A total of 44 patients with type III biliary atresia who underwent a Kasai operation from 1977 to 2005 were postoperatively examined for IBC by using ultrasonography and computed tomography.

Implications of MYCN amplification in patients with stage 4 neuroblastoma who undergo intensive chemotherapy.

Background/purpose: This study aims to clarify the implications of MYCN amplification in patients with high-risk neuroblastomas treated with 2 different regimens of induction chemotherapy established by the Japan Study Group for Advanced Neuroblastoma.

Methods: Between 1985 and 2003 in Japan, 392 patients with stage 4 neuroblastomas who were older than 12 months were treated with 2 regimens of induction chemotherapy (the combination of cyclophosphamide [CTX], cisplatin [CDDP], pirarubicin, and vincristine or etoposide). Regimen 91A3 or 98A3 (A3) (CTX 2400 mg/m2, CDDP 125 mg/m2) was a higher dose combination of CTX and CDDP than regimen 85A1 or 91A1 (A1) (CTX 1200 mg/m2, CDDP 90 mg/m2).

Perforation of the colon in neonates.

Purpose: Gastrointestinal perforation is a catastrophic condition in neonates, especially in premature neonates. Although perforation is commonly observed in the small intestine during the neonatal period, perforation of the colon is a rare condition. This study analyzed the clinical findings and results of perforation of the colon in neonates.

Rare association of severe hypoplasia of the abdominal aorta with imperforate anus, colonic atresia, and choledochal cyst.

Hypoplasia of the abdominal aorta (HAA) is a rare condition that causes marked hypertension. Although multiple etiologies have been postulated for HAA, congenital structural anomalies are rarely observed except in cases associated with some hereditary syndromes. The authors describe a neonatal case with HAA complicated by multiple anomalies including colonic atresia (CA), imperforate anus, choledochal cyst, facial cleft, and brain defects.

The etiologic role of intrauterine volvulus and intussusception in jejunoileal atresia.

Purpose: Although intussusception has been reported as quite a rare cause of jejunoileal atresia (JIA), pediatric surgeons have noted the frequent presence of intussusception as well as volvulus at surgery. The aim of this study was to investigate the contribution of intrauterine intussusception and volvulus to the development of JIA.

Methods: In 48 newborns (24 boys and 24 girls) treated for JIA at our hospital between 1978 and 2004, the operative and pathologic findings were reviewed.

Placental vascular compromise in jejunoileal atresia.

Background/purpose: The mechanisms of intrauterine vascular disruptions that result in the development of jejunoileal atresia (JIA) are not fully understood. Monochorionic twinning with fetal death of a cotwin is known to be correlated with the development of JIA in the survivor through placental communication. The aim of this study was to evaluate whether other placental vascular compromises might contribute to the development of JIA.

Inactivation of p16/CDKN2 and p15/MTS2 is associated with prognosis and response to chemotherapy in ovarian cancer.

To define the involvement of p16/CDKN2 and p15/MTS2 tumor-suppressor genes for response to chemotherapy in primary epithelial ovarian cancer, we analyzed alterations of the gene in 45 patients who were treated with primary cytoreductive surgery followed by 6 courses of cis-diamminedichloroplatinum (II) (cisplatin)-based combination chemotherapy. Homozygous deletion of p16/CDKN2 and p15/MTS2 genes was found in 8 (18%) and 15 (33%) cases, respectively. Response to the chemotherapy was confirmed by finding at second surgery after the chemotherapy in 26 patients, resulting in 17 responders and 9 nonresponders.