Search Results - "Ruchelli, E"

Dyskeratosis congenita: a combined immunodeficiency with broad clinical spectrum - a single-center pediatric experience by Jyonouchi, S., Forbes, L., Ruchelli, E., Sullivan, K. E.

“…To cite this article: Jyonouchi S, Forbes L, Ruchelli E, Sullivan KE. Dyskeratosis congenita: a combined immunodeficiency with broad clinical spectrum – a…”
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Jaagsiekte sheep retrovirus pseudotyped lentiviral vector-mediated gene transfer to fetal ovine lung by Davey, M G, Zoltick, P W, Todorow, C A, Limberis, M P, Ruchelli, E D, Hedrick, H L, Flake, A W

“…Viral vector-mediated gene transfer to the postnatal respiratory epithelium has, in general, been of low efficiency due to physical and immunological barriers,…”
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Increasing Incidence or Increasing Detection of Esophageal Eosinophilia: A Re-evaluation of Esophageal Biopsies from 1985 to 2005 by Franciosi, J.P, Osman, J, Li, C, Shults, J, Leonard, M, Spergel, J, Ruchelli, E, Liacouras, C.A

“…Conclusions There appears to be no significant increase in the proportion of children with (ee) over the past 20 years. Because EE is a clinico-pathologic…”
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Retropharyngeal Aberrant Thymus by Shah, Samir S, Lai, Stephen Y, Ruchelli, Eduardo, Kazahaya, Ken, Mahboubi, Soroosh

“…Upper airway obstruction from a retropharyngeal mass requires urgent evaluation. In children, the differential diagnosis includes infection, trauma, neoplasm,…”
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Ciliated hepatic foregut cyst causing portal hypertension in an adolescent by HARTY, M. P, HEBRA, A, RUCHELLI, E. D, SCHNAUFER, L

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Treatment of pediatric autoimmune enteropathy with tacrolimus (FK506) by Bousvaros, A, Leichtner, AM, Book, L, Shigeoka, A, Bilodeau, J, Semeao, E, Ruchelli, E, Mulberg, AE

“…Autoimmune enteropathy is characterized by chronic secretory diarrhea, villous atrophy, associated autoantibodies, and a partial response to immunosuppression…”
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Cystic lung lesions with systemic arterial blood supply: A hybrid of congenital cystic adenomatoid malformation and bronchopulmonary sequestration by Cass, Darrell L, Crombleholme, Timothy M, Howell, Lori J, Stafford, Perry W, Ruchelli, Eduardo D, Adzick, N.Scott

“…Congenital cystic adenomatoid malformation and bronchopulmonary sequestration are congenital lung tumors that are classically described as having distinct…”
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Central venulitis in pediatric liver allografts by Krasinskas, Alyssa M., Ruchelli, Eduardo D., Rand, Elizabeth B., Chittams, Jesse L., Furth, Emma E.

“…Central venulitis (CV), a distinct histologic lesion described in adult liver transplants, can occur with acute portal tract rejection or in isolation (ICV)…”
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Pulmonary veno-occlusive disease. Another vascular disorder associated with human immunodeficiency virus infection? by Ruchelli, E D, Nojadera, G, Rutstein, R M, Rudy, B

“…A variety of arterial lesions in both pulmonary and systemic circulations have been described in association with human immunodeficiency virus infection. Such…”
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Elemental diet is an effective treatment for eosinophilic esophagitis in children and adolescents by Markowitz, Jonathan E, Spergel, Jonathan M, Ruchelli, Eduardo, Liacouras, Chris A

“…Eosinophilic esophagitis (EoE), a disorder characterized by eosinophilic infiltration of the esophageal mucosa, has been defined in large part through…”
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Eosinophilic esophagitis: a 10-year experience in 381 children by Liacouras, Chris A, Spergel, Jonathan M, Ruchelli, Eduardo, Verma, Ritu, Mascarenhas, Maria, Semeao, Edisio, Flick, Jonathan, Kelly, Janice, Brown-Whitehorn, Terry, Mamula, Petar, Markowitz, Jonathan E

“…Eosinophilic esophagitis (EoE) is a disorder characterized by a severe, isolated eosinophilic infiltration of the esophagus unresponsive to aggressive acid…”
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Treacher Collins syndrome with novel ophthalmic findings and visceral anomalies by Prenner, J L, Binenbaum, G, Carpentieri, D F, Goldstein, S M, Douglas, R S, Ruchelli, E, Katowitz, J A, Hertle, R W

“…Treacher Collins syndrome (TCS) (mandibulofacial dysostosis (MFD) or zygoauromandibular dysplasia) is one of a group of congenital malformation syndromes that…”
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Familial and sporadic hyperinsulinism: histopathologic findings and segregation analysis support a single autosomal recessive disorder by Thornton, P S, Sumner, A E, Ruchelli, E D, Spielman, R S, Baker, L, Stanley, C A

“…We evaluated the possible genetic contribution to hyperinsulinism in a series of patients seen during the past 15 years. Of 26 families, 5 (19%) had more than…”
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Pneumonia in infants and children: Radiological-pathological correlation by Markowitz, Richard I., Ruchelli, Eduardo

“…The radiographic characteristics of pulmonary infection in children are many and varied. Although typical patterns are helpful in diagnosis, clinical and…”
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Prenatal diagnosis of a chest wall hamartoma and sternal cleft by Rose, N. C., Coleman, B. G., Wallace, D., Gaupman, K., Ruchelli, E.

“…We present the prenatal evaluation and diagnosis of a disorganized chest wall hamartoma (with underlying sternal cleft in a family with a prior offspring with…”
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Dyskeratosis congenita: a combined immunodeficiency with broad clinical spectrum a a singleacenter pediatric experience by Jyonouchi, S, bes, L, Ruchelli, E, Sullivan, KE

“…To cite this article: Jyonouchi S, Forbes L, Ruchelli E, Sullivan KE. Dyskeratosis congenita: a combined immunodeficiency with broad clinical spectrum - a…”
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Primary Eosinophilic Esophagitis in Children: Successful Treatment with Oral Corticosteroids by Liacouras, Chris A, Wenner, William J, Brown, Kurt, Ruchelli, Eduardo

“…BACKGROUND:The histologic appearance of esophageal eosinophils has been correlated with esophagitis and gastroesophageal reflux disease in children. Esophageal…”
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Eosinophilic esophagitis by Liacouras, Chris A, Ruchelli, Eduardo

“…Eosinophilic esophagitis (EE) is an isolated, eosinophilic inflammation of the esophagus. In the past, the symptoms of EE were often confused for…”
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Preoperative Evaluation of Infants with Focal or Diffuse Congenital Hyperinsulinism by Intravenous Acute Insulin Response Tests and Selective Pancreatic Arterial Calcium Stimulation by Stanley, Charles A., Thornton, Paul S., Ganguly, Arupa, MacMullen, Courtney, Underwood, Patricia, Bhatia, Pooja, Steinkrauss, Linda, Wanner, Laura, Kaye, Robin, Ruchelli, Eduardo, Suchi, Mariko, Adzick, N. Scott

“…Infants with congenital hyperinsulinism often require pancreatectomy. Recessive mutations of the ATP-dependent plasma membrane potassium channel (KATP) genes,…”
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Clinical and Molecular Characterization of a Dominant Form of Congenital Hyperinsulinism Caused by a Mutation in the High-Affinity Sulfonylurea Receptor by THORNTON, Paul S, MACMULLEN, Courtney, GANGULY, Arupa, RUCHELLI, Eduardo, STEINKRAUSS, Linda, CRANE, Ana, AGUILAR-BRYAN, Lydia, STANLEY, Charles A

“…Clinical and Molecular Characterization of a Dominant Form of Congenital Hyperinsulinism Caused by a Mutation in the High-Affinity Sulfonylurea Receptor Paul…”
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