Pediatric Metastatic Odontogenic Ghost Cell Carcinoma: A Multimodal Treatment Approach.

Odontogenic ghost cell carcinoma (OGCC) is a rare and aggressive tumor wherein optimal treatment remains uncertain. We report the first pediatric metastatic OGCC case treated with multimodal therapy: surgery, adjuvant chemoradiation, and adjuvant immunotherapy. Adjuvant therapy was utilized due to locally advanced disease with pathologic features indicative of high recurrence risk.

Novel pathogenic variants and genes for myopathies identified by whole exome sequencing.

Neuromuscular diseases (NMD) account for a significant proportion of infant and childhood mortality and devastating chronic disease. Determining the specific diagnosis of NMD is challenging due to thousands of unique or rare genetic variants that result in overlapping phenotypes. We present four unique childhood myopathy cases characterized by relatively mild muscle weakness, slowly progressing course, mildly elevated creatine phosphokinase (CPK), and contractures.

Case report of an epidural cervical Onchocerca lupi infection in a 13-year-old boy.

A 13-year-old boy presented with fever and neck pain and stiffness, which was initially misdiagnosed as culture-negative meningitis. Magnetic resonance images of the brain and cervical spine demonstrated what appeared to be an intradural extramedullary mass at the C1-3 level, resulting in moderate cord compression, and a Chiari Type I malformation. The patient underwent a suboccipital craniectomy and a C1-3 laminectomy with intradural exploration for excisional biopsy and resection.

Recurrent idiopathic tumoral calcinosis in a child postoperatively.

Tumoral calcinosis is an uncommon disease characterized by the deposition of calcium salts and crystals in the periarticular soft tissues. It is almost entirely a disease of adults. Histological and radiologically, however, features of this condition are identical regardless of age.

Neonatal orchitis mimicking cystic dysplasia of the testis.

Neonatal orchitis is an extremely rare disease, usually related to a congenital genitourinary anomaly. We present a 36 weeks' gestation infant who presented at 3 days old with a firm and enlarged right testicle. Testicular US revealed a heterogeneous right testicle with numerous cystic spaces as well as decreased testicular blood flow.

Pulmonary pathology in thyroid transcription factor-1 deficiency syndrome.

Thyroid transcription factor-1 (TTF-1) deficiency syndrome is characterized by neurologic, thyroidal, and pulmonary dysfunction. Children usually have mild-to-severe respiratory symptoms and occasionally die of respiratory failure. Herein, we describe an infant with a constitutional 14q12-21.

Regulation of alveologenesis: clinical implications of impaired growth.

During its development that begins in intrauterine life, the lung is transformed from a simple epithelial lined sac that emerges from the foregut into a complex arrangement of blood vessels, airways, and alveoli that make up the mature lung structure. This remarkable transformation that continues for several years postnatally, is achieved by the influence of several genes, transcription factors, growth factors and hormones upon the cells and proteins of the lung bud. A seminal event in this process is the formation of the air-blood barrier within the alveolar wall, an evolutionary modification that permits independent air-breathing existence in mammals.

Tumor necrosis factor-alpha from macrophages enhances LPS-induced clara cell expression of keratinocyte-derived chemokine.

Tumor necrosis factor (TNF)-alpha is a cytokine produced by alveolar macrophages in response to LPS in the lung. Clara cells are bronchiolar epithelial cells that produce a variety of proinflammatory cytokines in response to LPS but not to TNF-alpha. In this study, we examined whether TNF-alpha affects Clara cell cytokine production in the setting of LPS stimulation.

Clara cells impact the pulmonary innate immune response to LPS.

Airway epithelial cells secrete proinflammatory mediators in response to LPS, but cytokine production by a prominent nonciliated bronchiolar epithelial cell, the Clara cell, specifically, is unknown. To investigate Clara cell cytokine production in response to LPS, we used a transformed murine Clara cell line, C22, and isolated Clara cells from C57Bl/6 mice. Stimulation of both cell types with LPS resulted in significant upregulation of keratinocyte-derived chemokine (KC) and monocyte chemoattractant protein-1, but did not induce TNF-alpha production.

Molecular mechanisms of pulmonary vascular development.

In this era of rapidly advancing vascular biology research, a vast array of growth factors and signaling molecules have been recognized as key players in the mechanisms that control lung vascular development. In the lung, vascular development is a complex, multistep process that includes specialization of primitive cells to vascular progenitors; formation of primitive vascular networks; remodeling with local regression and branching; specialization toward arteries, veins, and lymphatics; stabilization of vessels by matrix production and recruitment of supporting cells; and maintenance of the vascular structure. This complex, highly organized process requires exquisite orchestration of the regulatory activity of multiple molecules in a specific temporospatial order.

Pediatric CD56+ anaplastic large cell lymphoma: a review of the literature.

Context: Anaplastic large cell lymphomas (ALCLs) are a heterogeneous group of CD30+ large cell lymphomas that, according to the World Health Organization classification, are defined as being of T-cell origin, based on immunophenotype, and/or the finding of a T-cell gene rearrangement by molecular studies. Most cases express cytotoxic granule-associated proteins. Relatively recent data have suggested that some T-cell ALCLs are derived from cytolytic CD4+ cells, gammadelta T cells, or natural killer-like (CD56+ or CD57+) T cells.

Development of vaccines and passive immunotherapy against SARS coronavirus using mouse and SCID-PBL/hu mouse models.

We have investigated novel vaccines strategies against severe acute respiratory syndrome (SARS) CoV infection using cDNA constructs encoding the structural antigens; spike (S), membrane (M), envelope (E), or nucleocapsid (N) protein, derived from SARS CoV (strain HKU39849, TW1, or FFM-1). As SARS-CoV is thought to infect the alveolar epithelial cell of the lung,in the present study, a type II alveolar epithelial cell clone, T7, was used to analyze the mechanism of CTL against SARS CoV membrane antigens. Mice vaccinated with SARS CoV (N) DNA or (M) DNA using pcDNA 3.

Severe bilateral panlobular emphysema and pulmonary arterial hypoplasia: unusual manifestations of Menkes disease.

Menkes disease is an X-linked recessive disorder of copper transport characterized by neurological deterioration, connective tissue, and vascular defects, abnormal hair, and death in early childhood. We report on a patient with Menkes disease in whom severe diffuse emphysema caused respiratory failure and death at 14 months of age. He had severe growth and developmental delays and other typical clinical manifestations of Menkes disease.

Cardiac conduction abnormalities and congenital immunodeficiency in a child with Kabuki syndrome: case report.

Background: Since it's recognition in 1981, a more complete phenotype of Kabuki syndrome is becoming evident as additional cases are identified. Congenital heart defects and a number of visceral abnormalities have been added to the typical dysmorphic features originally described.

Case Report: In this report we describe the clinical course of a child diagnosed with Kabuki syndrome based on characteristic clinical, radiological and morphologic features who died of a cardiac arrhythmia at 11-months of age.

A novel inflammation-induced ubiquitin E3 ligase in alveolar type II cells.

LINCR was identified as a glucocorticoid-attenuated response gene induced in the lung during endotoxemia. The LINCR protein has structural similarities to Drosophila Neuralized, which regulates the developmentally important Notch signaling pathway. Endotoxemia-induced LINCR expression in vivo was localized by in situ hybridization to alveolar epithelial type II cells, and shown to be induced by LPS and inflammatory cytokines in the T7 alveolar epithelial type II cell line.

Primary type II alveolar epithelial cells present microbial antigens to antigen-specific CD4+ T cells.

Type II alveolar epithelial cells (AEC) can produce various antimicrobial and proinflammatory effector molecules. This, together with their abundance and strategic location, suggests a role in host defense against pulmonary pathogens. We report that murine type II AEC, like their human counterparts, express class II major histocompatibility complex (MHC).

The development of vaccines against SARS corona virus in mice and SCID-PBL/hu mice.

We have investigated to develop novel vaccines against SARS CoV using cDNA constructs encoding the structural antigen; spike protein (S), membrane protein (M), envelope protein (E), or nucleocapsid (N) protein, derived from SARS CoV. Mice vaccinated with SARS-N or -M DNA using pcDNA 3.1(+) plasmid vector showed T cell immune responses (CTL induction and proliferation) against N or M protein, respectively.

Pulmonary pathology.

Common causes of neonatal respiratory distress include meconium aspiration, pneumonia, persistent pulmonary hypertension of the newborn, pneumothorax and cystic adenomatoid malformation. Genomics and proteomics have enabled the recent recognition of several additional disorders that lead to neonatal death from respiratory disease. These are broadly classified as disorders of lung homeostasis and have pathological features of proteinosis, interstitial pneumonitis or lipidosis.

Defective pulmonary development in the absence of heparin-binding vascular endothelial growth factor isoforms.

Development of the airways, alveoli, and the pulmonary vasculature in the fetus is a process that is precisely controlled. One of the growth factors involved, vascular endothelial growth factor (VEGF), is so critical for embryonic development that in the mouse, elimination of just a single allele is lethal. In the early stages of lung development, the mouse VEGF gene expresses three isoforms (120, 164, and 188) in a distinct temporo-spatial pattern, suggesting a specific function for each.

Generation and characterization of a conditionally immortalized lung clara cell line from the H-2Kb-tsA58 transgenic mouse.

The Clara cell is believed to be the progenitor of the peripheral airway epithelium, and it produces the surfactant proteins SP-A and SP-B, in addition to the 10-kDa Clara cell secretory protein (CCSP or CC10). To date, attempts to develop Clara cell lines have been unsuccessful. Most such attempts have involved the in vitro insertion of a transforming viral oncogene.