Oana Popescu

The role of upper gastrointestinal endoscopy in the diagnosis of pediatric inflammatory bowel disease

Becky Biqi Chen, Zachary Adam Hamilton, Mohammed Hasosah, Peter Zetler et autres

OBJECTIVES: Upper gastrointestinal (UGI) tract involvement is frequently reported in pediatric Crohn disease (CD) and ulcerative colitis (UC). Aside from granulomas, most findings are nonspecific. The aims of this study were to review the prevalence of UGI tract findings in pediatric patients …

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Advancing knowledge and clinical development in frontotemporal dementia (FTD) using the American Academy of Neurology’s (AAN) Axon Registry® (S15.007)

Delaney Oliver, Esther Kane, Shana G. Dodge, Roisheen Doherty et autres

Objective: Evaluate feasibility of a registry-based approach to real-world research and trial recruitment for FTD. Background: FTD is a rare, disabling disease with no cure. Registries play an important role in understanding rare diseases and also have application to identifying clinical trial …

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HEALTHCARE ASSOCIATED INFECTIONS IN INTENSIVE CARE UNITS

Alexandru Daniel Radu, Mădălina Preda, Oana Popescu

Mădălina "Hospital-acquired infections (HAIs) are the infections that develop clinically after 48 hours of admission in the hospital. Nosocomial infections occur within 48-72 hours of admission and are characterized by significantly higher incidence of infections resistant to treatment. Exogenous or endogenous pathogenic …

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SARS-CoV-2 Placental Infection in an Unvaccinated Mother Resulting in Fetal Demise

Dominic J Bewley, Jessica H. Lee, Oana Popescu, Angélica Oviedo

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in pregnancy may have devastating complications including fetal demise. Here, we describe a case of SARS-CoV-2 infection in a second-trimester pregnancy. The placenta demonstrated the presence of SARS-CoV-2 viral RNA along with intervillositis and …

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N-Glycanase 1 Deficiency Is a Rare Cause of Pediatric Neurodegeneration With Neuronal Inclusions and Liver Steatosis

Thomas Stuut, Oana Popescu, Angélica Oviedo

Pediatric neurodegeneration is extremely rare and devastating to the families involved. We describe a rare case of pediatric neurodegeneration in a child with N-glycanase 1 (NGLY1) deficiency. This child had an autosomal recessive mutation in NGLY1, the gene coding for the enzyme …

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Osteogenic sarcoma of the skull: long-term outcome of a rare tumor

Ronette Goodluck Tyndall, Oana Popescu, Prevost Derek, Paul Steinbok

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Nodular fasciitis: A rapidly enlarging destructive periorbital mass in an infant

R. Tom Liu, Erika Henkelman, Oana Popescu, Vivian T. Yin

To review the clinical and histopathological features of nodular fasciitis, a rare benign periorbital tumor that mimics orbital malignancy, by presenting a case involving an infant with marked orbital wall erosion requiring repair. A 9-month-old boy developed a rapidly growing periorbital mass …

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A226 PEDIATRIC COLLAGENOUS GASTRITIS: ENDOSCOPIC & HISTOLOGIC EVOLUTION

B Chen, Oana Popescu, Collin C. Barker

Collagenous gastritis (CG) is a rare condition, characterized by gastric subepithelial collagen bands greater than 10 μm with an inflammatory cell infiltrate within the lamina propria. There is limited understanding of its pathogenesis. Pediatric patients present with anemia and abdominal pain, while …

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A337 KABUKI SYNDROME: A NEW ADDITION TO THE DIFFERENTIAL DIAGNOSIS OF LOW-GGT NEONATAL CHOLESTASIS

Frank A. Briglia, Orlee R. Guttman, Oana Popescu, C. Senger et autres

Neonatal low-GGT cholestasis has a unique differential diagnosis centered on congenital disorders of bile acid transport or synthesis. Kabuki syndrome is a genetic condition with distinctive facies, developmental delay, and skeletal, renal and cardiac defects. While Kabuki has been associated with high-GGT …

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A76 UPPER ENDOSCOPY AND HISTOLOGY IN THE DIAGNOSIS OF PEDIATRIC INFLAMMATORY BOWEL DISEASE

Bin Chen, Zachary Adam Hamilton, Mohammed Hasosah, Ruth L. Katz et autres

Upper gastrointestinal(GI) endoscopy and biopsy has been recommended as part of the initial evaluation of children with suspected inflammatory bowel disease(IBD). It is known that upper GI tract inflammation can be found in both Crohn’s disease CD) and ulcerative colitis(UC). However, criteria …

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Vasoactive Intestinal Polypeptide Promotes Intestinal Barrier Homeostasis and Protection Against Colitis in Mice

Xiujuan Wu, Victoria S. Conlin, Vijay Morampudi, Natasha R. Ryz et autres

Inflammatory bowel disease is a chronic gastrointestinal inflammatory disorder associated with changes in neuropeptide expression and function, including vasoactive intestinal peptide (VIP). VIP regulates intestinal vasomotor and secretomotor function and motility; however, VIP's role in development and maintenance of colonic epithelial barrier …

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Prenatal and postnatal findings in serpentine fibula polycystic kidney syndrome and a review of the NOTCH2 spectrum disorders

Brett M. Martin, Margarita H. Ivanova, Anna Sarukhanov, Ashley Kim et autres

Serpentine fibula polycystic kidney syndrome (SFPKS; OMIM600330) is a rare skeletal dysplasia with a characteristic phenotype that includes polycystic kidneys, S-shaped fibulas, and abnormal craniofacial features. SFPKS shares features with Alagille (AGS; OMIM) and Hajdu-Cheney (HCS; OMIM10250) syndromes. All three syndromes result …

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