Increased expression of proton pump and allergic inflammation genes predicts PPI failure in pediatric eosinophilic esophagitis.

Proton pump inhibitors (PPIs) are one of the standards of care of eosinophilic esophagitis (EoE) treatment, though PPI response rates are variable ranging from 23 to 63% in pediatric studies. We sought to determine if expression of select genes in esophageal mucosa can predict PPI responsiveness in EoE. Children with a new diagnosis of EoE (15 or more eosinophils/hpf on esophageal biopsy) were prospectively treated with 8 weeks of PPI therapy before follow-up esophagogastroduodenoscopy (EGD).

Spatial Gene-Expression Profiling Unveils Immuno-oncogenic Programs of NF1-Associated Peripheral Nerve Sheath Tumor Progression.

Purpose: Plexiform neurofibromas (PNF) are benign peripheral nerve sheath tumors (PNST) associated with neurofibromatosis type 1 (NF1). Despite similar histologic appearance, these neoplasms exhibit diverse evolutionary trajectories, with a subset progressing to malignant peripheral nerve sheath tumor (MPNST), the leading cause of premature death in individuals with NF1. Malignant transformation of PNF often occurs through the development of atypical neurofibroma (ANF) precursor lesions characterized by distinct histopathologic features and CDKN2A copy-number loss.

Integrative Multi-OMICs Identifies Therapeutic Response Biomarkers and Confirms Fidelity of Clinically Annotated, Serially Passaged Patient-Derived Xenografts Established from Primary and Metastatic Pediatric and AYA Solid Tumors.

Establishment of clinically annotated, molecularly characterized, patient-derived xenografts (PDXs) from treatment-naïve and pretreated patients provides a platform to test precision genomics-guided therapies. An integrated multi-OMICS pipeline was developed to identify cancer-associated pathways and evaluate stability of molecular signatures in a panel of pediatric and AYA PDXs following serial passaging in mice. Original solid tumor samples and their corresponding PDXs were evaluated by whole-genome sequencing, RNA-seq, immunoblotting, pathway enrichment analyses, and the drug−gene interaction database to identify as well as cross-validate actionable targets in patients with sarcomas or Wilms tumors.

Eosinophilic Esophagitis Symptom Scores Are High in Children Without Eosinophilic Disease.

Objectives: The Pediatric Eosinophilic Esophagitis (EoE) Symptom Score version 2 (PEESSv2.0) is an EoE-specific validated metric for disease monitoring, but its use has not been explored outside of EoE. Our aim was to determine if PEESSv2.

Congenital cecal diverticulitis in a pediatric patient.

Diverticulitis in the pediatric population is a very rare cause of abdominal pain. When present in the cecum or ascending colon, it is often incorrectly diagnosed preoperatively as acute appendicitis. This is especially true in Western countries where right-sided diverticulitis is less common.

Systems Biology Approach Identifies Prognostic Signatures of Poor Overall Survival and Guides the Prioritization of Novel BET-CHK1 Combination Therapy for Osteosarcoma.

Osteosarcoma (OS) patients exhibit poor overall survival, partly due to copy number variations (CNVs) resulting in dysregulated gene expression and therapeutic resistance. To identify actionable prognostic signatures of poor overall survival, we employed a systems biology approach using public databases to integrate CNVs, gene expression, and survival outcomes in pediatric, adolescent, and young adult OS patients. Chromosome 8 was a hotspot for poor prognostic signatures.

Diffuse lung disease in young children: application of a novel classification scheme.

Rationale: Considerable confusion exists regarding nomenclature, classification, and management of pediatric diffuse lung diseases due to the relative rarity and differences in the spectrum of disease between adults and young children.

Objectives: A multidisciplinary working group was formed to: (1) apply consensus terminology and diagnostic criteria for disorders presenting with diffuse lung disease in infancy; and (2) describe the distribution of disease entities, clinical features, and outcome in young children who currently undergo lung biopsy in North America.

Methods: Eleven centers provided pathologic material, clinical data, and imaging from all children less than 2 years of age who underwent lung biopsy for diffuse lung disease from 1999 to 2004.

Achieving glycemic control in type 2 diabetes: a practical guide for clinicians on oral hypoglycemics.

Type 2 diabetes mellitus has reached epidemic proportions in the United States. Cardiovascular morbidity and mortality are particularly high in this patient population. Improved glucose control, especially early in the course of diabetes, can slow or prevent complications, preserve beta-cell function, and improve long-term outcomes.

Artificially low hemoglobin A1c caused by use of dapsone.

Objective: To describe a case of artifactually decreased hemoglobin Alc (HbAlc) attributable to use of dapsone.

Methods: We present a detailed case report and results of a related literature search. In addition, potential causes of artifactually lowered HbAlc values are discussed.

Post-irradiation leiomyosarcoma of the maxilla: report of a case in a patient with prior radiation treatment for retinoblastoma.

Post-irradiation sarcoma is a well-defined complication of radiation therapy, yet few reports document such lesions in the head and neck. A 30-year-old man presented for evaluation of an expansile lesion of the left posterior maxilla. His medical history was significant for a childhood ocular malignancy - unilateral retinoblastoma - which was treated with a combination of surgical enucleation of the eye and external beam radiation therapy.