Shengmei Zhou

Immune mechanisms and pathophysiology of T cell-mediated pediatric acute liver failure (TC-PALF)

Jason T. C. Lee, Harry Sutton, Priya Pai, Arianna Barbetta et autres

Immune dysregulation in pediatric acute liver failure (PALF) is a distinct phenomenon that has garnered interest with respect to disease outcomes and targeted therapies. Some patients with PALF have an "indeterminate" (iPALF) etiology ranging from acute severe hepatitis to fulminant liver failure. …

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The rejectome of acute T-cell–mediated rejection in clinical liver transplantation

Arianna Barbetta, Nour Hassan, Jason Lee, Sarah Bangerth et autres

Rejection remains a major cause of allograft injury and loss in liver transplantation (LT). Mechanisms mediating clinical liver allograft rejection remain elusive, limiting the development of new immunosuppressive drugs and biomarker panels for monitoring rejection for decades. Herein, multiomic data and systems …

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Molecular switch‐mediated detection of EGFR deletion mutations and its application to cfDNA analysis

Yingying Xu, Lu‐yan Wang, Shengmei Zhou, Hui Xu et autres

Abstract Sensitive and effective detection of epidermal growth factor receptor ( EGFR ) mutations is crucial for the early screening and diagnosis of non‐small cell lung cancer (NSCLC). In this study, we assessed the sensitivity and specificity of the molecular switch technology …

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Gestational Alloimmune Liver Disease and Congenital Athymia in a Neonate Born via In Vitro Fertilization Surrogacy

Meifang Wu, Joel D. Hernandez, Ryan Rebbe, Jennifer Cotter et autres

We report a rare case of gestational alloimmune liver disease (GALD) and congenital athymia in a 3-week-old premature male neonate, born via in vitro fertilization (IVF) surrogacy. The neonate initially presented with disseminated intravascular coagulation and septic shock, and subsequently developed liver …

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Methods for detecting off-target effects of CRISPR/Cas9

Yingying Xu, Shengmei Zhou, Lu-Yan Wang, Rong Zhang et autres

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High-Grade Malignant Pleuropulmonary Neoplasm With YAP1::MAML2 Gene Fusion

Shengmei Zhou, Ryan J. Schmidt, Paul Zamiara, Nick Shillingford

A 17-month-old male presented with a 4-week history of cough, and a CT scan revealed a large right intrathoracic mass with metastases to the brain and femur. Tumor biopsy demonstrated a high-grade malignant neoplasm with histological and immunostaining features most suggestive of, …

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Undifferentiated embryonal sarcoma of the liver: A clinicopathological and genomic study of 10 cases from a single institution

Paul Zamiara, Nick Shillingford, Larry Wang, Ryan J. Schmidt et autres

AIMS: Undifferentiated embryonal sarcoma of the liver (UESL) is a rare and aggressive malignancy with limited clinicopathological and genomic characterization. This study aimed to investigate the genomic abnormalities in a cohort of UESL cases. METHODS: We analyzed ten UESL cases diagnosed at …

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Pediatric Embryonal Rhabdomyosarcoma: An Integrated Study of Clinicopathological Features, Pan-cancer Targeted Next-generation Sequencing, and Chromosomal Microarray Analysis from a Single Institution

Bo Yang, Ryan J. Schmidt, Gordana Raca, Nick Shillingford et autres

Rhabdomyosarcoma is the most common soft tissue sarcoma in children and adolescents, and embryonal rhabdomyosarcoma (ERMS) is the most common subtype. Previous reports have identified a wide range of genetic aberrations in ERMS. However, the clinicopathological significance of these genetic aberrations is …

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Diagnosis of cystic echinococcosis within a pediatric hospital setting

Samuel M. Goodfellow, Andrew Karnaze, Hyunjean Kim, Shengmei Zhou et autres

Background: The diagnosis of early echinococcosis may be difficult due to the small lesion size in the first years of infection and nonspecific symptoms. Here, we discuss a case of cystic echinococcosis at a pediatric center to highlight the challenges in identifying …

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Abstract A008: Identification of EYA2 as a promising biomarker for DICER1-related tumor predisposition

Mona K. Wu, Shengmei Zhou, F. Kommoss, Yemin Wang et autres

Abstract Background: DICER1-related tumor predisposition (DRTP), also known as DICER1 syndrome, is a genetic condition associated with an increased risk of developing various tumors, including pleuropulmonary blastoma, thyroid gland neoplasia, ovarian tumors, and cystic nephroma. Currently, the diagnosis and surveillance of DRTP …

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The Role of Non-Coding RNAs in Regulating Cachexia Muscle Atrophy

Guoming Chen, Jiayi Zou, Qianhua He, Shuyi Xia et autres

Cachexia is a late consequence of various diseases that is characterized by systemic muscle loss, with or without fat loss, leading to significant mortality. Multiple signaling pathways and molecules that increase catabolism, decrease anabolism, and interfere with muscle regeneration are activated. Non-coding …

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A Novel TEK::GAB2 Gene Fusion in Pediatric Angiosarcoma of Pelvic soft Tissue: A Case Report and Literature Review

Zachary Emmanuel Sandoval, Ryan J. Schmidt, Jessica Sheth Bhutada, Nick Shillingford et autres

Pediatric angiosarcoma of soft tissue, an extremely rare entity, remains poorly understood from a genetic standpoint. Herein, we present the case of a previously healthy 17-year-old girl with acute left hip pain. Subsequent magnetic resonance imaging revealed a 21.8 cm left pelvic …

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