Intrapericardial Ectopic Hepatic Tissue Masquerading as a Fetal Pericardial Tumor.

Prenatal diagnosis of pericardial mass, with associated large pericardial effusion, resected postnatally and diagnosed to be ectopic hepatic tissue on pathology.

Renal tubular dysgenesis and microcolon, a novel association. Report of three cases.

Renal tubular dysgenesis (RTD) is a developmental abnormality of the nephron characterized by fetal anuria, oligohydramnios, and severe postnatal hypotension. Genetic forms have an autosomal recessive inheritance and are caused by mutations in genes encoding key components of the renin-angiotensin pathway. We report three patients from two unrelated families with RTD due to pathogenic variants of the angiotensin-converting enzyme (ACE) gene, in whom RTD was associated with microcolon.

Can magnetic resonance spectroscopy differentiate malignant and benign causes of lymphadenopathy? An in-vitro approach.

Lymphadenopathy continues to be a common problem to radiologists and treating physicians because of the difficulty in confidently categorizing a node as being benign or malignant using standard diagnostic techniques. The goal of our research was to assess whether magnetic resonance (MR) spectroscopy contains the necessary information to allow differentiation of benign from malignant lymph nodes in an in-vitro approach using a modern pattern recognition method. Tissue samples from a tissue bank were analyzed on a nuclear magnetic resonance (NMR) spectrometer.

Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus.

Background: Haploinsufficiency of the GATA6 transcription factor gene was recently found to be the most common cause of pancreatic agenesis, a rare cause of neonatal diabetes mellitus. Although most cases are de novo, we describe three siblings with inherited GATA6 haploinsufficiency and the rare finding of parental mosaicism.

Case Presentation: The proband was born at term with severe intrauterine growth restriction, the first child of non-consanguineous parents.

Histopathologic Effects of Onabotulinum Toxin A Treatment in Pediatric Submandibular Glands.

Onabotulinum toxin A (OBTXA) is an effective treatment for drooling. Our objective was to determine if there are histologic changes in the submandibular glands (SMGs) after repetitive OBTXA injections. The study included blinded histologic analysis and comparison of SMGs with ≥4 OBTXA injections versus controls who never received OBTXA.

Lower esophageal sphincter augmentation by endoscopic injection of dextranomer hyaluronic acid copolymer in a porcine gastroesophageal reflux disease model.

Background: We previously demonstrated feasibility, safety, and a reproducible histologic bulking effect after injection of dextranomer hyaluronic acid copolymer (DxHA) into the gastroesophageal junction of rabbits. In the current study, we investigated the potential for DxHA to augment the lower esophageal sphincter (LES) in a porcine model of gastroesophageal reflux disease (GERD).

Methods: Twelve Yucatan miniature pigs underwent LES manometry and 24-hour ambulatory pH monitoring at baseline, after cardiomyectomy, and 6weeks after randomization to endoscopic injection of either DxHA or saline at the LES.

Canadian anaplastic lymphoma kinase study: a model for multicenter standardization and optimization of ALK testing in lung cancer.

Introduction: Fluorescence in situ hybridization (FISH) is currently the standard for diagnosing anaplastic lymphoma kinase (ALK)-rearranged (ALK+) lung cancers for ALK inhibitor therapies. ALK immunohistochemistry (IHC) may serve as a screening and alternative diagnostic method. The Canadian ALK (CALK) study was initiated to implement a multicenter optimization and standardization of laboratory developed ALK IHC and FISH tests across 14 hospitals.

Dextranomer hyaluronic acid copolymer effects on gastroesophageal junction.

Objective: The outcomes of fundoplication for gastroesophageal reflux disease are suboptimal in many children, and alternatives are clearly needed. Dextranomer hyaluronic acid (DxHA) copolymer, an agent with proven efficacy in vesicoureteral reflux, was studied with respect to its effects on the gastroesophageal junction (GEJ).

Methods: Twelve New Zealand white rabbits underwent measurement of lower esophageal sphincter pressure followed by laparotomy and injection into the muscular layer of the GEJ (controls, 1.

Prenatal and postnatal features of mesenchymal hamartoma of the chest wall: case report and literature review.

Mesenchymal hamartoma of the chest wall is a rare, benign chondro-osseous tumor of the bone. Although it most commonly presents at birth or soon after, prenatal detection is rare. We report a case of prenatally detected mesenchymal hamartoma, and provide the rationale, details, and outcomes of our management.

Gangrenous appendicitis in children: a prospective evaluation of definition, bacteriology, histopathology, and outcomes.

Introduction: The definition and treatment of gangrenous appendicitis are not agreed upon. We performed a prospective study in children to evaluate an objective definition of gangrenous appendicitis, as well as associated bacteriology, histopathology, and outcomes.

Methods: Five staff pediatric surgeons prospectively enrolled patients in the study at the time of appendectomy if the following five criteria were met: gray or black discoloration of the appendiceal wall; absence of fecalith outside the appendix; absence of visible hole in the appendix; absence of gross purulence or fibrinous exudate remote from the appendix; and absence of intraoperative appendiceal leak.

Neonatal Gardner fibroma: a sentinel presentation of severe familial adenomatous polyposis.

Familial adenomatous polyposis (FAP) is a rare cause of colorectal cancer and rarely presents in early childhood. Various extracolonic manifestations, however, may be present before the development of overt polyposis. One of the rarest manifestations is the Gardner fibroma (GAF), which has particular histologic features.

Coexistence of a choriocarcinoma and a gonadoblastoma in the gonad of a 46,XY female: a single nucleotide polymorphism array analysis.

Females with 46,XY complete gonadal dysgenesis are at significant risk of developing germ cell tumors, mostly gonadoblastomas. We present here the case of 2 half-sisters, sharing the same father, diagnosed with 46,XY complete gonadal dysgenesis. The 1st sister developed a gonadoblastoma and an invasive dysgerminoma, whereas the 2nd sister developed a gonadoblastoma and an invasive choriocarcinoma within the same gonad.

Wilms tumor arising in a child with X-linked nephrogenic diabetes insipidus.

We report on a child with X-linked nephrogenic diabetes insipidus (NDI) who developed Wilms tumor (WT). Nephrogenic diabetes insipidus is caused by mutations of the arginine vasopressin receptor (AVPR2) or aquaporin-II (AQP2) genes. Wilms tumor is also genetically heterogeneous and is associated with mutations of WT1 (15-20%), WTX (20-30%) and other loci.