A Cardiocraniofacial Syndrome Associated With a Novel Missense Variant in GATA6: A Fetal Case Report [0.03%]
与GATA6中的新错义变体相关的新型心脏颅面综合症的产前病例报告
Sihem Darouich,Samia Darouich,Dorsaf Gtari et al.
Sihem Darouich et al.
Hypoplastic right heart syndrome (HRHS) is an uncommon congenital cardiac defect, characterized by variable underdevelopment of the right-sided heart structures. We report on a case of HRHS in a 25-week female fetus. Prenatal karyotype was ...
Haiying Chen,Juan Putra,Anita Nagy et al.
Haiying Chen et al.
Background: Digital pathology facilitates remote pathology consultations. Pediatric pathologists in Canada formed a nationwide digital pathology consultation network, mostly for second opinion review of pediatric cancer c...
Genetically Distinct Acute Megakaryoblastic Leukemia following Low Hypodiploid B-Lymphoblastic Leukemia linked by TP53 Mutation [0.03%]
由TP53突变相连的低型低二倍体B淋巴母细胞白血病后的急性巨核细胞白血病遗传异质性分析
Jaryse C Harris,Jeffrey Schubert,Brian Lockhart et al.
Jaryse C Harris et al.
We report a case of acute myeloid leukemia with megakaryoblastic differentiation (AMKL) that developed after an initial B-lymphoblastic leukemia (B-ALL) with low hypodiploidy. Although the AMKL was initially thought either to be a phenotypi...
Bacillus cereus Sepsis in Preterm Neonates Caused by Central Venous Catheter: A Case Report [0.03%]
早产儿经外周插入中心静脉导管所致的蜡样芽孢杆菌败血症1例报告
Li Xiaoxiao,Long Dianfa,Xu Hui et al.
Li Xiaoxiao et al.
In recent years, Bacillus cereus infection has emerged as a main concern in the field of children's public health. This bacterium, known to be a pollutant, can be found in various settings such as hospital wards, equipment, breast milk, nut...
Bilateral Renal Fungal Bezoars and Perinephric Abscess in an Infant With Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome: A Clinico-pathologic Case Report [0.03%]
关节挛缩肾功能障碍胆汁淤积综合征患儿并发双侧肾脏真菌结石及肾周脓肿的临床病理学病例报告
Sihem Darouich,Samia Darouich,Ahmed Khemiri et al.
Sihem Darouich et al.
The patients with Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome have genetic susceptibility to the opportunistic infections due to the involvement of VPS33B (vacuolar protein sorting 33 homolog B) in phagolysosome fusion in ma...
Fibrosarcomatous Dermatofibrosarcoma Protuberans With COL1A1-PDGFB Fusion in a 2-Year-Old Child: A Rare Occurrence With Spectrum of Histopathological Findings and Review of Literature [0.03%]
COL1A1-PDGFB融合的纤维肉瘤样皮纤维异鞘突癌一名2岁患儿的临床病理特征及相关文献复习
Sumanta Das,Jayati Sarangi,Sunita Ahlawat et al.
Sumanta Das et al.
Dermatofibrosarcoma protuberans (DFSP) is an intermediate-grade fibroblastic neoplasm commonly seen in young and middle-aged patients and rarely in pediatric patients. Fibrosarcomatous transformation is common in adults but extremely uncomm...
Indian Childhood Cirrhosis: Report of 2 Cases With Review of Literature and Implication of Metallothionein Immunohistochemical Expression [0.03%]
儿童印度肝硬化2例报告及文献复习和金属硫蛋白免疫组化表达的意义
Mukul Vij,Vaibhav Shah,Aashay Abhay Shah
Mukul Vij
Indian childhood cirrhosis is a chronic liver disease in infants and children. Indian childhood cirrhosis is unique to the Indian subcontinent and occurs from 6 months to 5 years of age. We report 2 cases in a period of 5 years, including 1...
Variant Pseudocystic Desmoplastic Small Round Cell Tumor With Heterologous Mullerian Cysts [0.03%]
异质性穆勒管囊肿的假囊性肉瘤样小圆细胞肿瘤变异型
Eric I Nayman,Carole Brathwaite,Felipe Pedroso et al.
Eric I Nayman et al.
A desmoplastic small round cell tumor (DSRCT) presented in a 13-year-old female with an acute abdomen due to torsion of a fallopian tube cyst. She was found to have an incidental 2 cm pedunculated, solid, and multicystic mass attached to th...
Clinical and Pathological Features of a Schwannoma Harboring a SH3PXD2A::HTRA1 Gene Fusion in a Pre-pubescent Patient [0.03%]
SH3PXD2A::HTRA1基因融合的施万瘤的临床和病理特征：一例学龄前患儿病例报告
Aida Glembocki,Robert Siddaway,Anthony Arnoldo et al.
Aida Glembocki et al.
An 11-year-old girl presented with a soft tissue lesion on the dorsal aspect of the left middle finger. Ultrasound imaging demonstrated a 2.8 cm × 0.8 cm × 0.8 cm lesion overlying the dorsal aspect of the base of the digit near the metaca...
Clinical, Pathological, and Molecular Findings in a Mexican Patient With Neuronal Ceroid Lipofuscinosis Type 2: Support for Pathogenicity of the c.1226 G>T Variant and for Presence of Cherry-Red Spot in This Disease [0.03%]
神经元脑肝糖脂代谢异常II型的临床、病理及分子特征：支持c. 1226 G> T变异致病性的证据及其在该疾病中存在樱桃红点的现象
Celso Tomás Corcuera-Delgado,Alfonso Gilberto Ramírez-Ristori,Estela Pérez-Muñoz et al.
Celso Tomás Corcuera-Delgado et al.
Neuronal ceroid lipofuscinosis type 2 (CLN2) results from biallelic pathogenic variants in the TPP1 gene, leading to deficient activity of the lysosomal enzyme tripeptidyl peptidase 1. We report an autopsy case of CLN2 characterized at mole...