Anastasia E Konstantinidou,Ioannis Ketsekioulafis,Lina Florentin
Anastasia E Konstantinidou
Gaucher disease is a rare lysosomal storage disease caused by mutations in the GBA gene, resulting in the accumulation of glucosylceramides in macrophages. The perinatal/lethal form, also including fetal Gaucher disease, is a distinct and s...
Disseminated MRSA and Myelokathexis Preceding AML with t(8;21) and ASXL1 Mutation [0.03%]
散在的MRSA和骨髓留存先于t（8;21）和ASXL1突变的急性髓系白血病
Aditi Tulsiyan,Sudipto Bhattacharya,Nita Radhakrishnan et al.
Aditi Tulsiyan et al.
Pediatric acute myeloid leukemia (AML) is heterogeneous, and molecular genetics strongly influence prognosis. Although t(8;21) AML is considered favorable, additional mutations such as ASXL1 can worsen outcomes. We report a 13-year-old boy ...
Luz F Sua,María Del Mar Conde,Juan Carlos Bravo et al.
Luz F Sua et al.
Eosinophilic myenteric ganglionitis is a rare cause of pseudo-obstructive intestinal syndrome, predominantly reported in children. It is characterized by symptoms that mimic mechanical intestinal obstruction, despite the absence of a demons...
Isolated Hepatic Cryptococcosis in an Immunocompetent Child: A Rare Cause of Granulomatous Hepatitis with Cholestasis [0.03%]
免疫功能正常的儿童孤立性肝隐球菌病：肉芽肿性肝炎伴胆汁淤积的罕见原因
Kala Gnanasekaran Kiruthiga,Kinisha Patel,Ashish Bavdekar et al.
Kala Gnanasekaran Kiruthiga et al.
Cryptococcosis is an opportunistic fungal infection acquired through inhalation of Cryptococcus neoformans and is typically encountered in immunocompromised hosts. In children, reported cases most commonly involve the central nervous system...
Standardized Placental Pathology Reporting: Improving Quality and Clinical Utility Recommendations From the Society for Pediatric Pathology Placental Pathology Reporting Task Force [0.03%]
胎盘病理标准化报告：提高质量和临床应用价值社会儿童病理学会胎盘病理报告工作组建议
Sanjita Ravishankar,Francois Cady,Chrystalle Katte Carreon et al.
Sanjita Ravishankar et al.
Background: Placental pathology has benefited greatly from the standardization of definitions provided by the Amsterdam consensus, however the quality of placental pathology reporting continues to suffer from a lack of un...
The Role of Adenovirus Immunohistochemistry in Acute Appendicitis in Children [0.03%]
儿童急性阑尾炎中腺病毒免疫组化的作用
Guohua Liang,Dongwei Zhang,Iván A González
Guohua Liang
Background: Acute appendicitis is the most common indication for emergent surgery in children and is due to a nonspecific obstruction of the appendiceal lumen. Rare reports have linked the association of adenovirus infect...
Epithelioid Fibrous Histiocytoma With an ETV6::NTRK3 Fusion in a Child: A Case Expanding the Spectrum of Receptor-Tyrosine Kinase Driven Epithelioid Fibrous Histiocytoma [0.03%]
ETV6::NTRK3融合的上皮样纤维组织细胞瘤一例：受体酪氨酸激酶驱动的上皮样纤维组织细胞瘤的病例报告
Bindu Challa,Rana Naous,Richard Kirschner et al.
Bindu Challa et al.
Epithelioid fibrous histiocytoma (EFH) is a benign cutaneous neoplasm that is now recognized to be largely driven by ALK rearrangements. Rare cases of EFH and EFH-spectrum tumors with other receptor tyrosine kinase (RTK) fusions including R...
Detection of Tumor Suppressor Genes Rare Variants: Findings From Neuroblastoma Using Next-Generation Sequencing [0.03%]
肿瘤抑制基因稀有变异的检测：神经母细胞瘤下一代测序结果分析
Aylin Erol,Deniz Kızmazoğlu,Tekincan Çağrı Aktaş et al.
Aylin Erol et al.
Background/objectives: Neuroblastomas (NB) influenced by genetic alterations, which plays significant role in disease progression. Tumor suppressor genes (TSGs) are crucial in regulating cell growth, suppressing replicati...
Upper Gastrointestinal Biopsy Findings in Pediatric Inflammatory Bowel Disease: Histologic and Clinicopathologic Correlations [0.03%]
儿科炎症性肠病上消化道活检的病理和临床病理相关性
Melek Büyük,Neslihan Berker,Sidar Bağbudar et al.
Melek Büyük et al.
Objectives: We aimed to evaluate histologic findings in upper gastrointestinal (UGI) biopsies of pediatric inflammatory bowel disease (IBD) patients, their correlation with endoscopic features, and association with diseas...