BCOR Mutations Identify a Clinically Aggressive Subset of Pediatric Rhabdomyosarcoma [0.03%]
BCOR突变确定了儿童横纹肌肉瘤中的一组具有侵袭性的临床亚型
Lianyuan Yu,Lejian He,Nan Zhang
Lianyuan Yu
Background:BCOR mutations occur in about 5% in pediatric rhabdomyosarcoma (RMS), their clinical significance and mechanistic roles remain undefined. This study characterizes BCOR-mutant RMS as a molecularly distinct, high-risk subgroup. Met...
Case Report: Coexistence of Giant Congenital Melanocytic Nevus and Holocord Spinal Nerve Sheath Tumor [0.03%]
个例报告：巨大型先天性黑色素细胞痣伴全长脊髓神经鞘瘤共存病例
Mustafa Bilici,Merih Can Yilmaz,Bilge Bilgic et al.
Mustafa Bilici et al.
Background: Melanocytes and Schwann cells share a neural crest origin. Giant congenital melanocytic nevi (CMN) are linked to neurocutaneous melanocytosis (NCM), melanoma risk, and CNS anomalies. We report a case of giant ...
Altered Epithelial-Mesenchymal Progenitor States Lead to Matrix Deposition, Tissue Inflammation, and Transitional Epithelial State in Congenital Diaphragmatic Hernia [0.03%]
先天性膈疝中上皮细胞-间充质干细胞状态的改变导致基质沉积、组织炎症和移行上皮状态
Rachel Rivero,Sophie Edelstein,Connor Haynes et al.
Rachel Rivero et al.
Introduction: Congenital diaphragmatic hernia (CDH) lungs are characterized by pulmonary hypertension and lung hypoplasia. We have used single cell RNA sequencing (scRNA-seq) to show that mesenchyme is perturbed in CDH, l...
Brain Pathology in Terminal Deletion of Chromosome 4 (4q- Syndrome): A Case Report [0.03%]
4号染色体末端缺失(4q-)综合征的脑部病理一例报告
Elvio Della Giustina,Luca Reggiani Bonetti,Tiziana Salviato et al.
Elvio Della Giustina et al.
Background/objectives: To report the complete neuropathologic description of an infant with terminal deletion q31-q35 of chromosome 4 (4q- syndrome), because much published work has been devoted to the genetics of 4q- syndrome and almost no...
The Association of Birth Defects or Birth Asphyxia with the Risk of Mortality and Morbidity in Premature Infants [0.03%]
先天缺陷或出生窒息与早产儿死亡率和发病率风险的关系
Lujain Khalid Khan,Fawaz Alasmari
Lujain Khalid Khan
Introduction: Preterm birth is a leading international health issue with morbidity and mortality risks. Premature infants frequently present with congenital anomalies or perinatal asphyxia, both of which contribute to prolonged hospitalizat...
Fetus in Fetu Presenting as a Second Head: A Rare Case Report with Pathologic Correlation [0.03%]
胎中胎并胎儿头影征的一例罕见病例报告及病理相关性分析
Manuella Araújo Couto,Gustavo Yano Callado,Edward Araujo Júnior et al.
Manuella Araújo Couto et al.
Background: Fetus in fetu (FIF) is a rare congenital anomaly in which a malformed parasitic twin is enclosed within its host, usually in the retroperitoneum. Oral presentation is extremely rare, with few cases described. ...
Role of Neutrophil CD64 in Early Detection of Neonatal Sepsis and its Correlation with Other Sepsis Biomarkers [0.03%]
新生儿CD64阳性中性粒细胞在早期诊断脓毒症中的作用及其与其他脓毒症生物标志物的相关性研究
Bhawna Morya,Vijay Kumar,Arti Maria et al.
Bhawna Morya et al.
Objectives: Early diagnosis of neonatal sepsis may be helpful in decreasing neonatal mortality. Neutrophil CD64 (nCD64) is a leukocyte surface antigen whose expression increases about an hour after bacterial invasion. We ...
Exchange Transfussion for the Treatment of Severe Indirect Hyperbilirubinemia Caused by Glucose-6-Phosphate Dehydrogenase Deficiency: A Case Report [0.03%]
G-6-PD缺乏症所致重度间接型高胆红素血症的换血治疗1例报告
Hatice Buket Özay,Melek Tandoğan,Bayram Ali Dorum et al.
Hatice Buket Özay et al.
Hyperbilirubinemia is a common problem during the neonatal period, which can lead to high morbidity and mortality if it is not treated properly. The most common first-line treatment used for hyperbilirubinemia is phototherapy. Glucose-6-pho...
Coexistence of Hereditary Spherocytosis, Beta-Thalassemia Trait and Gilbert Syndrome in a Newborn: A Rare Genetic Profile [0.03%]
遗传性球形红细胞增多症、β-地中海贫血和吉伯特综合症共同存在于一名新生儿身上：一种罕见的基因型
Sanjana Kapoor,Priyanka Gupta
Sanjana Kapoor
Introduction: Hereditary spherocytosis (HS) is a congenital hemolytic anemia, often under-recognized in neonates. Co-inheritance with other genetic disorders like Gilbert syndrome (GS) and beta-thalassemia trait (BTT) can complicate the dia...
Evaluating the sFlt1 Mouse Model of Preeclampsia: Benefits and Limitations for Understanding Human Disease [0.03%]
评估妊娠毒血症小鼠模型sFLT-1的优点和局限性：对理解人类疾病的应用
David M Aronoff,Jean W Wassenaar,Meena S Madhur
David M Aronoff
Preeclampsia (PE) remains a leading cause of maternal and neonatal morbidity and mortality globally. Among several experimental models developed to interrogate the pathogenesis of PE, the mouse model employing systemic infusion or transgeni...