Diffuse Glioneuronal Tumor With Oligodendroglioma-Like Features and Nuclear Clusters Relapse in a Seven-Year-Old Boy: An Unusual Case Exhibiting Near-Tetraploidy and Chromosome 14 Diploidy.

Diffuse glioneuronal tumor with oligodendroglioma-like features and nuclear clusters (DGONC) is a rare brain tumor of the central nervous system (CNS). Although only a few cases of DGONC have been reported following the initial description of the tumor, they have a distinct DNA methylation pattern and share a recurrent chromosomal finding of monosomy 14. We encountered a seven-year-old boy who presented with seizures and was found to have a left frontal and suprasellar mass.

Two pediatric oncologic cases of hypereosinophilic syndrome and review of the literature.

Background: Persistent peripheral blood hypereosinophilia may cause tissue damage, leading to hypereosinophilic syndrome (HES) with end-organ dysfunction. Here we discuss two unique pediatric cases of primary hypereosinophilic syndrome with oncologic etiologies to highlight the importance of early recognition, workup and treatment of HES. CASE 1: A previously healthy 7-year-old male presented with acute myocardial infarction and transient ischemic attack and found to have significant hyperleukocytosis with a total white blood count of 131 000 and hypereosinophilia with an absolute eosinophil count of 99 560.

Necrotizing Fasciitis of the Right Lower Extremity from Ruptured Appendicitis: Case Report.

Case: The patient is a 16-year-old girl with history of dermatomyositis in remission for several years who presented with complaints of right thigh pain and elevated inflammatory markers. She presented to the Emergency Room (ER) on separate occasions and was diagnosed with right lower extremity necrotizing fasciitis secondary to ruptured appendix. She underwent 11 surgical procedures and extended hospital stay.

LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV.

Transposable elements modify human genome by inserting into new loci or by mediating homology-, microhomology-, or homeology-driven DNA recombination or repair, resulting in genomic structural variation. Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare lethal neonatal developmental lung disorder caused by point mutations or copy-number variant (CNV) deletions of FOXF1 or its distant tissue-specific enhancer. Eighty-five percent of 45 ACDMPV-causative CNV deletions, of which junctions have been sequenced, had at least one of their two breakpoints located in a retrotransposon, with more than half of them being Alu elements.

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by heterozygous point mutations or genomic deletion copy-number variants (CNVs) of FOXF1 or its upstream enhancer involving fetal lung-expressed long noncoding RNA genes LINC01081 and LINC01082. Using custom-designed array comparative genomic hybridization, Sanger sequencing, whole exome sequencing (WES), and bioinformatic analyses, we studied 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. We describe novel deletion CNVs at the FOXF1 locus in 13 unrelated ACDMPV patients.

Coexistent Chorangioma and Hepatic Adenoma in One Twin Placenta: A Case Report and Review of the Literature.

Primary nontrophoblastic tumors of a placenta are very uncommon, with the majority being of vascular origin, such as chorangiomas and chorangiomatosis. Rare examples of tumor-like collections of liver tissue, morphologically consistent with hepatocellular adenomas, have been reported. We report the co-occurrence of a chorangioma and hepatic adenoma as a grossly single lesion on the fetal surface of a diamniotic dichorionic twin placenta.

Stabilization of HIF-2α through redox regulation of mTORC2 activation and initiation of mRNA translation.

Hypoxia inducible factor-2α (HIF-2α) has a critical role in renal tumorigenesis. HIF-2α is stabilized in von Hippel-Lindau (VHL)-deficient renal cell carcinoma through mechanisms that require ongoing mRNA translation. Mammalian target of rapamycin (mTOR) functions in two distinct complexes: Raptor-associated mTORC1 and Rictor-associated mTORC2.

Anemia and hepatosplenomegaly as presenting features in a child with rickets and secondary myelofibrosis.

Anemia and hepatosplenomegaly are common reasons for referring a child to a pediatric hematologist or oncologist. Among the many causes for these findings is severe rickets, which has been shown to be associated with secondary myelofibrosis and myeloid metaplasia. The authors present the case of an infant with severe rickets and secondary myelofibrosis and review the differential diagnosis of hepatosplenomegaly from the viewpoint of the pediatric hematologist/oncologist.

The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis.

Autoimmune lymphoproliferative syndrome (ALPS) is characterized by chronic, histologically benign splenomegaly and generalized lymphadenopathy, hypergammaglobulinemia, and autoantibody formation. ALPS has been attributed to defective programmed cell death of lymphocytes, most often arising as a result of mutations in the gene encoding the lymphocyte apoptosis receptor Fas/APO-l/CD95. We identified a novel mutation in the intracellular apoptosis signaling domain of Fas in 11 members of a family, individual members of which have been monitored for up to 25 years, with 1 or more features of ALPS.

Hepatocellular carcinoma in children associated with Gardner syndrome or familial adenomatous polyposis.

Purpose: Gardner syndrome, a variant of familial adenomatous polyposis, is characterized by colonic polyps that undergo malignant change and benign and malignant extracolonic lesions. Tumors frequently associated with Gardner syndrome include carcinoma of the ampulla of Vater, papillary carcinoma of the thyroid, and, in children, hepatoblastoma. The childhood malignancies often precede the appearance of other manifestations by several years.

Periductal mastitis. Masquerading as carcinoma.

Periductal mastitis (mammary duct ectasia) is a little appreciated, often unrecognized entity that may present to the dermatologist. We present our experience with this disease and hope to familiarize the reader with a condition not well known to most dermatologists. Periductal mastitis is a benign mammary duct disease that begins with periductal inflammation and progresses to ductal dilatation with minimal inflammation (ductal ectasia).

Primary amoebic meningoencephalitis after swimming in the Rio Grande.

We report a case of fatal primary amoebic meningoencephalitis (PAM) with Naegleria fowleri in a 13-year-old male, and review the clinical course and diagnostic autopsy findings. The boy developed the infection after swimming with relatives in the Rio Grande and in a holding tank containing water pumped from the river. The clinical and neuropathologic features of PAM are presented.

Hernia uterus inguinale associated with unicornuate uterus.

Hernia uterus inguinale, a condition in which endometrium and myometrium are found in an ectopic location in the inguinal canal, is a rare congenital abnormality in women. A woman with a normal number of chromosomes (46,XX) demonstrated the presence of a uterus, fallopian tube, and ovary in an inguinal hernia associated with a unicornuate uterus. This represents a unique abnormality in the spectrum of lateral fusion defects associated with müllerian ductal development, which normally proceeds as the right and left systems fuse and form the uterus, cervix, and four fifths of the vagina.

Clinical relevance of the substitution of different brands of sustained-release theophylline.

In order to assess whether clinically important changes in serum theophylline concentrations occur when patients switch their brand of slow-release (SR) theophylline, 10 subjects with asthma were administered the same dose of four different SR theophylline formulations for 2-week periods in a random, double-blinded, crossover manner. Analysis of the data revealed significant differences in mean peak-to-trough fluctuations of serum theophylline concentrations between the formulations of SR theophylline, which varied from 60% to 106% of trough concentration (p less than 0.0001, analysis of variance).