Xingfeng Yao
YOU?
Author Swipe
View article: A Novel Balamuthia Lineage Causing Fatal Granulomatous Amoebic Encephalitis in an Immunocompetent Infant
A Novel Balamuthia Lineage Causing Fatal Granulomatous Amoebic Encephalitis in an Immunocompetent Infant Open
This case highlights the challenges in diagnosing and managing GAE, particularly in pediatric patients with atypical presentations. The discovery of a genetically distinct Balamuthia strain indicates the importance of global surveillance f…
View article: Case Report: Biallelic variants in MRPS36, encoding a component of the 2-oxoglutarate dehydrogenase complex, cause leigh syndrome
Case Report: Biallelic variants in MRPS36, encoding a component of the 2-oxoglutarate dehydrogenase complex, cause leigh syndrome Open
Background The MRPS36 gene encodes the E4 subunit of the 2-oxoglutarate dehydrogenase complex (OGDHC), a critical enzyme in the tricarboxylic acid cycle. OGDHC deficiency can lead to metabolic disorders with a clinical spectrum ranging fro…
View article: A rare cause of diffuse alveolar hemorrhage in a pediatric patient: thigh localization of INI1-deficient epithelioid sarcoma
A rare cause of diffuse alveolar hemorrhage in a pediatric patient: thigh localization of INI1-deficient epithelioid sarcoma Open
Background Diffuse alveolar hemorrhage (DAH) is a group of rare but life-threatening conditions characterized by bleeding into the alveolar spaces, often associated with various etiologies. Epithelioid sarcoma (ES) is a rare and aggressive…
View article: High CCR6 expression increases the risk of pediatric Langerhans cell histiocytosis
High CCR6 expression increases the risk of pediatric Langerhans cell histiocytosis Open
Langerhans cell histiocytosis (LCH) is a rare disorder that primarily affects children. Considering the intricate clinical presentation of this disease, the identification of specific biomarkers associated with susceptibility to LCH is ess…
View article: Development, optimization and application of a universal fluorescence multiplex PCR-based assay to detect BCOR genetic alterations in pediatric tumors
Development, optimization and application of a universal fluorescence multiplex PCR-based assay to detect BCOR genetic alterations in pediatric tumors Open
Accordingly, this assay provided an effective and convenient method for detecting BCOR- and YWHAE-related abnormalities in tumors.
View article: Development, optimization and application of a Universal Fluorescence Multiplex PCR-based assay to detect BCOR genetic alterations in pediatric tumors
Development, optimization and application of a Universal Fluorescence Multiplex PCR-based assay to detect BCOR genetic alterations in pediatric tumors Open
Background A number of genetic aberrations are associated with the BCL6-correpresor gene (BCOR), including internal tandem duplications (ITDs) and fusions (BCOR-CCNB3 and BCOR-MAML3), as well as YWHAE-NUTM2, which are found in clear cell s…
View article: Effect of Elamipretide on the Vitrification of Mouse Ovarian Tissue by Freezing
Effect of Elamipretide on the Vitrification of Mouse Ovarian Tissue by Freezing Open
The importance of ovarian cortical cryopreservation in fertility preservation is receiving increasing attention from reproductive specialists, and mitochondrial dysfunction is an important cause of reduced ovarian tissue cryopreservation. …
View article: Frequent detection of genetic aberrations reveals novel pathogenesis and treatment modalities in systemic juvenile xanthogranuloma
Frequent detection of genetic aberrations reveals novel pathogenesis and treatment modalities in systemic juvenile xanthogranuloma Open
Juvenile xanthogranuloma (JXG), the most common form of non-Langerhans cell histiocytosis (non-LCH), is generally confined to the skin during infancy and early childhood.1 JXG rarely involves extracutaneous tissues or systemic organs, resu…
View article: Translational practice of fluorescence <i>in situ</i> hybridisation to identify neuroblastic tumours with <i>TERT</i> rearrangements
Translational practice of fluorescence <i>in situ</i> hybridisation to identify neuroblastic tumours with <i>TERT</i> rearrangements Open
Recently, telomerase reverse transcriptase ( TERT ) gene rearrangements have been identified in neuroblastoma (NB), the typical pathological type of neuroblastic tumours (NTs); however, the prevalence of TERT rearrangements in other types …
View article: Clinical relevance of BCOR internal tandem duplication and TP53 aberration in clear cell sarcoma of the kidney
Clinical relevance of BCOR internal tandem duplication and TP53 aberration in clear cell sarcoma of the kidney Open
Clear cell sarcoma of the kidney (CCSK) is the second most common pediatric renal malignancy, characterized by BCOR internal tandem duplication (ITD), YWHAE rearrangement, BCOR-CCNB3 fusion, and lack of other consistent structural alterati…
View article: Primary cardiac <i>CIC</i>‐rearranged undifferentiated sarcoma in an infant
Primary cardiac <i>CIC</i>‐rearranged undifferentiated sarcoma in an infant Open
Introduction Cardiac neoplasms are particularly rare in children, and the majority of these tumors are benign. Approximately 10% of cardiac neoplasms are malignant, including soft tissue sarcomas and lymphomas. Cardiac tumors could also be…
View article: Fetal Lung Interstitial Tumor: Clinicopathologic Analysis of 4 Cases From China
Fetal Lung Interstitial Tumor: Clinicopathologic Analysis of 4 Cases From China Open
Background: The fetal lung interstitial tumor (FLIT) is a newly identified tumor and is extremely rare, with only five reports published in English. Here, we report 4 cases of FLITs in China and present a literature review, aiming to explo…