Pathogenic Yersinia DNA in intestinal specimens of pediatric patients with Crohn's disease.

Studies indicate a close relationship between Yersinia and Crohn's disease in adults. Our study tested 77 colonic specimens from children with Crohn's disease for the presence of Yersinia DNA using a validated polymerase chain reaction (PCR) assay. Control cases included specimens from 45 ulcerative colitis patients and 10 appendicitis patients. The presence of Yersinia in Crohn's specimens was significant compared to the control specimens (9% vs. 0%; p = 0.0055). While our study supports the medical literature, future studies are needed to determine if the relationship between Crohn's disease and Yersinia is an initiating or mediating factor in the pathogenesis of pediatric Crohn's disease.

Unusual presentation of congenital infantile fibrosarcoma in seven infants with molecular-genetic analysis.

Congenital infantile fibrosarcoma (CIFS) is a rare mesenchymal tumor that primarily presents in the soft tissue of the distal extremities and occasionally in unusual locations such as the lung and retroperitoneum. Herein, we report seven cases of unusual presentations of CIFS. These cases include three in the lungs, one in the retroperitoneum with cord compression, one in the posterior trunk, one in the heart, and one infratemporal involving the sphenoid bone. All tumors demonstrated CIFS's characteristic t(12;15)(p13;q25) and associated ETV6-NTRK3 gene fusion. One of the three lung cases was previously reported as primary bronchopulmonary fibrosarcoma (PBPF), but molecular analysis of the paraffin embedded tissue revealed the ETV6-NTRK3 gene fusion consistent with CIFS. We show that CIFS may occur in unusual sites including visceral locations, and we propose that neoplasms displaying the ETV6-NTRK3 gene fusion represent the visceral components of CIFS.

Pediatric procedural sedation by a dedicated nonanesthesiology pediatric sedation service using propofol.

OBJECTIVES: To evaluate the success and dosing requirements of propofol in children for prolonged procedural sedation by a nonanesthesiology-based sedation service. METHODS: The pediatric sedation service at this institution uses propofol as its preferred sedative, and the local guideline suggests using 3 mg/kg for induction and 5 mg kg(-1) h(-1) for maintenance sedation. Doses can be adjusted as needed to individualize successful sedation. A retrospective analysis of patients sedated for 30 minutes or longer was conducted. Patients were stratified into 4 cohorts based on age (<1 year [n = 16], 1-2 years [n = 85], 3-7 years [n = 54], and >7 years [n = 55]) and dosing patterns, success, and adverse effects were investigated. RESULTS: Two hundred forty-nine patients met the inclusion criteria. Mean age was 4.8 years (SD, 4.1). The mean induction dose was 3.2 mg/kg (range, 0.9-9.7), and the mean maintenance infusion was 5.2 mg kg(-1) h(-1) (range, 0.14-21.3). No differences were seen in the induction doses in the different age cohorts, yet the SD was largest in the youngest cohort compared to any other. Although no differences were seen in maintenance rates by age, the greatest SD for dosing was seen in the oldest cohort. For all ages, all sedations were successful (100%) and unanticipated adverse effects rare (<1%). CONCLUSIONS: Although it seems that the mean dosing of propofol does not vary significantly with age, there is greater variability in induction dosage for those younger than 1 year and in maintenance dosing for those 7 years or older. The results and general dosing parameters may assist pediatric subspecialists in using propofol for prolonged procedural sedation.

Von Hippel-Lindau (VHL) disease: an update on the clinico-pathologic and genetic aspects.

von Hippel-Lindau (VHL) disease is an inherited multisystem familial cancer syndrome caused by mutations of the VHL gene on chromosome 3p25. A wide variety of neoplastic processes are known to be associated with VHL disease. The consequences of the VHL mutations and the pathway for tumor development continue to be elucidated. This paper will detail the variety of tumors associated with VHL disease and discuss the genetic mechanisms that lead to the predisposition for neoplasia.

Mucinous adenocarcinoma of the lung in association with congenital pulmonary airway malformation.

Congenital pulmonary airway malformation (CPAM) is a rare developmental abnormality of the lung that has been associated with the presence of rhabdomyosarcoma, pleuropulmonary blastoma, and most commonly bronchioalveolar carcinoma (BAC) of the lung. Here, we report the case of an 8-year-old patient who developed KRAS mutation positive stage IV mucinous adenocarcinoma of the lung in association with CPAM. This case reflects the previously recognized progression of CPAM to malignancy and suggests that BAC arising in CPAM may take a more aggressive course than previously recognized.

E6 and E7 oncogene expression by human papilloma virus (HPV) and the aggressive behavior of recurrent laryngeal papillomatosis (RLP).

Recurrent laryngeal papillomatosis (RLP), a chronic disease associated with human papilloma virus (HPV), requires serial surgical procedures for debulking, resulting in debilitating long-term dysphonia, laryngeal scarring, and rarely malignant degeneration. Human papilloma virus 11 tumors have been widely accepted as more aggressive than HPV 6 tumors; however, the clinical course has been difficult to predict at disease onset, and the biologic mediators of proliferation have not been well characterized. A retrospective case review of 43 patients (4 months to 10 years at diagnosis) was performed on children treated for recurrent laryngeal papillomatosis. Patient charts were reviewed for demographic information, age at RLP diagnosis, approximate frequency of surgical intervention, and absolute number of surgical procedures performed. Human papilloma virus subtyping was performed. Expression analysis of the HPV-encoded E6 and E7 oncogenes was performed by reverse-transcriptase polymerase chain reaction. Fourteen patients had subtype 11 (33%) and 29 patients had subtype 6 (67%). As expected, HPV 11 patients showed a more aggressive clinical course than HPV 6 patients. However, 38% of patients with subtype 6 (11 patients) followed a clinical course that mirrored the more severe subtype 11 patients. These patients expressed the disease at a younger age (P < 0.0002) and showed higher levels of E6 and E7 oncogenes compared to the patients with the more indolent course. Although HPV subtype and early onset of RLP are well characterized prognostic factors, our study documents the significance of E6 and E7 oncogene expression as potential biologic mediators of proliferation and thereby clinical behavior.

Kawasaki disease: four case reports of cardiopathy with an institutional and literature review.

Kawasaki disease (KD) is a systemic vasculitis condition with a relatively unknown etiology. First described in 1967 by Tomisaku Kawasaki in Japan, KD has come to be widely diagnosed in every region of the world. The disease has a high prevalence in children ages 6 months to 5 years, particularly in those of Japanese descent. Patients often present with a high fever, rash, lymphadenopathy, and conjunctival injections, but there is no diagnostic test for KD. This paper presents data from our Kawasaki registry including 99 patients with emphasis on Kawasaki cardiopathy. Three patients died from complications of KD, and 1 patient underwent heart transplant for massive aneurysmal dilatation. The 4 explanted hearts showed a spectrum of pathological findings (acute thrombosis, vasculitis, and myocarditis), and 1 patient showed the long-term sequelae of vasculitis in the form of massive aneurysmal dilatation. Among the survivors, 30% showed aneurysmal dilatation. This paper reviews the most recent information regarding Kawasaki cardiopathy and underlying molecular mechanisms.