The Hepatic Histomorphology and Application of Ensemble Transfer Learning in Convolutional Neural Network Models in the Biopsies of Hepatic Langerhans Cell Histiocytosis [0.03%]
朗格汉斯细胞组织细胞增生症肝活检的肝脏组织形态学及卷积神经网络模型中的集成迁移学习应用
Dipanwita Biswas,Suvradeep Mitra,Raghav Lal et al.
Dipanwita Biswas et al.
Background and aims: Langerhans cell histiocytosis (LCH) commonly affects children. The histological distinction of hepatic LCH from its mimickers is challenging and often requires judicious use of immunohistochemistry in...
Drug Induced Liver Injury in Children: Practical Considerations for Pathologists [0.03%]
儿童药物性肝损伤：病理学家的实用考虑因素
Kalyani R Patel,Juan Putra
Kalyani R Patel
Drug-induced liver injury (DILI) in children remains a diagnostic challenge due to its broad clinical and histologic spectrum. Based on pathogenesis, DILI is classified as idiosyncratic, intrinsic (direct), or indirect. In the United States...
Childhood-Onset Desmin-Related Cardiomyopathy: Comprehensive Clinical, Histopathological, Immunohistochemical, Ultrastructural, and Molecular Characterization [0.03%]
儿童期发病的desmin相关心肌病的临床、组织病理学、免疫组化、超微结构和分子特征的全面分析
Chrystalle Katte Carreon,Stephen P Sanders,Elizabeth D Blume et al.
Chrystalle Katte Carreon et al.
Background: Desmin-related cardiomyopathy is a rare disorder caused by pathogenic variants in desmin and associated protein genes. We aimed to describe the clinical, histopathological, immunohistochemical, ultrastructural...
Lethal Suspected DICER1 Syndrome Spectrum in Neonate with CPAM Type IV/Type I PPB, Genitourinary Abnormalities, and CNS Embryonal Tumor with Multilayered Rosettes [0.03%]
新生儿CPAM 4型/1型PPB、泌尿生殖系统异常和多层乳头状胚胎性脑肿瘤的致死性疑似DICER1综合征谱系
Rachel Guest,John Van Arnam,Darryl Kinnear et al.
Rachel Guest et al.
DICER1 syndrome is a rare autosomal dominant cancer predisposition syndrome caused by germline mutations in the DICER1 gene and several associated benign and malignant entities. This case describes a premature 8-day old neonate prenatally d...
Percc1-Associated Congenital Diarrhea and Enteropathy: Description of a Novel Variant [0.03%]
PERCC1相关先天性腹泻和肠病：描述一种新型变异型
Bilge S Akkelle,Emine Celik,Esra Dirimtekin et al.
Bilge S Akkelle et al.
Persistent diarrhea that occurs in the first weeks of life and is caused by monogenic defects are defined as congenital diarrhea and enteropathies (CoDEs). The PERCC1 (proline and glutamate-rich protein with coiled-coil domain 1) gene which...
Congenital Atrophic Dermatofibrosarcoma Protuberans With Rapid Nodular Transformation in an Infant: A Case Report [0.03%]
婴儿先天性萎缩性皮纤维组织细胞瘤伴快速结节转化1例报告
Chen Sun,Jiafen Zhang,Xiao Yang
Chen Sun
Dermatofibrosarcoma protuberans (DFSP) is an uncommon soft tissue sarcoma with a high risk of local recurrence, of which the congenital atrophic variant is exceptionally rare and prone to misdiagnosis. We report a case of a 10-month-old mal...
Thyroid Myofibroma in a Child With Turner Syndrome: Integrated Cytologic, Histopathologic, and Molecular Characterization [0.03%]
与唐氏综合症相关的儿童甲状腺平滑肌瘤：细胞学、组织病理学及分子特征的综合分析
Irena Manukyan,Christopher T Rossi,Priya Vaidyanathan et al.
Irena Manukyan et al.
Most thyroid nodules encountered in clinical endocrinology are epithelial in origin. In contrast, primary thyroid mesenchymal tumors are exceedingly rare but increasingly recognized with advances in immunohistochemistry and molecular diagno...
Katelyn E Moss,Heather L Keir,Theonia K Boyd et al.
Katelyn E Moss et al.
Background: Placental calcifications are common and often associated with post-term placentas and maternal vascular disorders. However, their significance in specific fetal disease contexts remains poorly understood. Anec...
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 ...