Conservative management of urachal anomalies.

Purpose: The purpose of this study was to evaluate trends in management of urachal anomalies at our institution and the safety of nonoperative care.

Methods: Based on our experience managing urachal remnants from 2000 to 2010 (reported in 2012), we adopted a more conservative approach, including preoperative antibiotic use, refraining from using voiding cystourethrograms (VCUG), postponing surgery until at least six months of age, and considering nonoperative management. A retrospective analysis of urachal anomaly cases was conducted (2011-2016) to assess trends in practice.

Flow cytometric characteristics of extrathymic thymocytes in adenoid tissue: A case report and comparison to normal thymus and thymoma.

Background: Normal thymocyte precursors in secondary lymphoid organs have previously been described. It is important to recognize normal thymocyte precursors by flow cytometry to differentiate them from T-cell lymphoblastic leukemia.

Methods: A 3-year-old boy status 2 years post-allogenic cardiac transplant underwent adenoidectomy to exclude post-transplant lymphoproliferative disorder.

Flow Cytometric Characteristics of Extrathymic Thymocytes in Adenoid Tissue: A Case Report and Comparison to Normal Thymus and Thymoma.

Background: Normal thymocyte precursors in secondary lymphoid organs have previously been described. It is important to recognize normal thymocyte precursors by flow cytometry to differentiate them from T-cell lymphoblastic leukemia.

Methods: A 3-year-old boy status 2 years postallogenic cardiac transplant underwent adenoidectomy to exclude post-transplant lymphoproliferative disorder.

Myhre syndrome: Clinical features and restrictive cardiopulmonary complications.

Myhre syndrome, a connective tissue disorder characterized by deafness, restricted joint movement, compact body habitus, and distinctive craniofacial and skeletal features, is caused by heterozygous mutations in SMAD4. Cardiac manifestations reported to date have included patent ductus arteriosus, septal defects, aortic coarctation and pericarditis. We present five previously unreported patients with Myhre syndrome.

Trends in surgical management of urachal anomalies.

Purpose: We have noted an increasing frequency of diagnosed urachal anomalies. The purpose of this study is to evaluate this increase, as well as the outcomes of management at our institution over 10 years.

Methods: A retrospective analysis of urachal anomalies at our institution was performed.

Retropharyngeal thymus and parathyroid gland: a case report.

Cervical ectopic thymus occurs when thymic tissue arrests during its embryologic descent through the neck to the upper mediastinum. Most often it presents as an asymptomatic neck mass. Rarely does it present with airway compromise, particularly in neonates.

Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene.

Mitochondrial DNA (mtDNA) depletion syndromes (MDSs) are a clinically and molecularly heterogeneous group of mitochondrial cytopathies characterized by severe mtDNA copy number reduction in affected tissues. Clinically, MDSs are mainly categorized as myopathic, encephalomyopathic, hepatocerebral, or multi-systemic forms. To date, the myopathic form of MDS is mainly caused by mutations in the TK2 gene, which encodes thymidine kinase 2, the first and rate limiting step enzyme in the phosphorylation of pyrimidine nucleosides.

Hepatic fibrosis persists and progresses despite biochemical improvement in children treated with intravenous fish oil emulsion.

Objectives: Intestinal failure-associated liver disease (IFALD) is a multifactorial process, which can culminate in cirrhosis and need for transplantation. Fish oil-based lipid emulsions (FOE) reportedly reverse hyperbilirubinemia, but there are little data on their effect on the histopathology of IFALD.

Methods: We blindly examined sequential liver biopsy data on 6 children receiving FOE, with scoring of cholestasis, inflammation, fibrosis, and ductal proliferation based on standardized systems.

Pathologic changes in biliary dyskinesia.

Purpose: For children with upper abdominal pain and evaluation for acalculous biliary disease, laparoscopic cholecystectomy is an accepted treatment with inconsistent outcomes. The purpose of this study was to identify predictors of outcomes.

Methods: One hundred sixty-seven children underwent laparoscopic cholecystectomy at a single children's hospital.

Teaching pediatric laboratory medicine to pathology residents.

Context: Laboratory data are essential to the medical care of fetuses, infants, children, and adolescents. However, the performance and interpretation of laboratory tests on specimens from these patients, which may constitute a significant component of the workload in general hospitals and integrated health care systems as well as specialized perinatal or pediatric centers, present unique challenges to the clinical pathologist and the laboratory. Therefore, pathology residents should receive training in pediatric laboratory medicine.