Genotype and Ultrastructure Correlation in Primary Ciliary Dyskinesia Among Saudi Children: A Case Series [0.03%]
沙特儿童原发性纤毛运动障碍的基因型和超微结构相关性：病例系列报告
Wajd A Althakfi
Wajd A Althakfi
Background: Primary ciliary dyskinesia (PCD) is a rare inherited disorder of motile cilia causing chronic oto-sinopulmonary disease. Transmission electron microscopy (TEM) remains essential for confirming ultrastructural defects, especially...
Hydranencephaly Secondary to Placental Fetal Vascular Malperfusion in a Pregnancy with Extensive Uterine Fibromatosis [0.03%]
与胎盘胎儿血管灌注不良相关的hydranencephaly一名广泛子宫肌瘤患者的病例报告
Mariangela Pati,Andrea Musarò,Immacolata Blasi et al.
Mariangela Pati et al.
Introduction: Hydranencephaly is a rare, destructive fetal brain disorder usually attributed to early bilateral carotid occlusion. Case presentation: ...
Fluctuations and Determinants of Amino Acids and Acylcarnitine Species in Newborn Screening by Tandem Mass Spectrometry [0.03%]
新生儿串联质谱筛查中氨基酸和酰基肉毒碱波动及影响因素分析
Zhi-Hui Wan,Bo-Lun Cai,Wei Liu et al.
Zhi-Hui Wan et al.
Objectives: To evaluate the stability of amino acid and acylcarnitine species concentrations in newborn screening and identify factors influencing their variations. ...
A Review of Early- and Late-Onset Neonatal Infections by Group B Streptococcus: Pathophysiology and Vaccine Prospects [0.03%]
早发型和晚发型新生儿B群链球菌感染的病理生理及疫苗研发展望综述
Wahid Hanan Hamimi,Hajar Ahmad Jamil,Danesh Anamulai et al.
Wahid Hanan Hamimi et al.
Group B Streptococcus (GBS) remains a leading cause of neonatal morbidity and mortality worldwide. About 18% of pregnant women are colonized in the gastrointestinal or genitourinary tracts. Vaginal colonization can result in ascending intra...
Avantika Gupta,Chetan Khare,Roshan Chanchlani et al.
Avantika Gupta et al.
Background: Abdominal wall defects represent a significant spectrum of congenital anomalies, ranging from the more frequently encountered gastroschisis and omphalocele to the rare and intricate malformations such as limb-body wall complex, ...
Copy Number Variants in Prenatal Diagnosis: A Study on Genetic Origins, Follow-up, and Dynamic Clinical Interpretation [0.03%]
产前诊断中的拷贝数变异：遗传起源、随访及动态临床解释的研究
Tian Tian,Zhi Huang,Yuquan Li et al.
Tian Tian et al.
Objective: To explore the role of pathogenicity classification, genetic origin, and clinical decision-making in pregnancy outcomes for copy number variations (CNVs) detected by prenatal chromosome microarray analysis (CMA...
Brain Structural and Dysmaturation Anomalies in First- and Second-Trimester Trisomy 21 Fetuses: Ultrasound, MRI, and Autopsy Findings [0.03%]
胎儿21三体第一次和第二次妊娠 trimester 超声、MRI 和尸检的脑结构和发育异常：超声、MRI 和尸体解剖发现
Maria Paola Bonasoni,Mariangela Pati,Andrea Musarò et al.
Maria Paola Bonasoni et al.
Fetuses with trisomy 21 typically exhibit subtle but measurable deviations in early brain growth rather than frequent major malformations. This review synthesizes first-second trimester data from ultrasound, fetal MRI, and autopsy studies t...
Clinical Pathological Features and Cytokeratin Expression Patterns of Osteofibrous Dysplasia in Children [0.03%]
儿童骨纤维发育不良的临床病理特征及细胞角蛋白表达模式分析
Xue-Mei Wu,Qin-Qin Zhang,Xiang-Yue Meng et al.
Xue-Mei Wu et al.
Objective: To investigate the clinicopathological features and cytokeratin (CK) expression patterns of osteofibrous dysplasia (OFD) in children. Methods: ...
A Case of Epstein-Barr Virus Associated Smooth Muscle Tumor in the Bronchus of a Child with CARMIL2 Deficiency and a Literature Review [0.03%]
儿童CARMIL2缺陷伴EB病毒感染诱发支气管平滑肌瘤1例及文献复习
Yi Peng,Wanmin Xia,Cheng Xie et al.
Yi Peng et al.
Background: Epstein-Barr virus associated smooth muscle tumors (EBV-SMTs) have been established as a rare neoplasm closely associated with severe immunodeficiency. CARMIL2 deficiency, described in recent years, is a combined immunodeficienc...
PANoptosis Genes as Novel Diagnostic Biomarkers for Neonatal Necrotizing Enterocolitis [0.03%]
PANoptosis基因作为新生儿坏死性小肠结肠炎的新诊断生物标志物
Li-Li Jia,Shu-Yue Luo,Xiao-Ya Ye et al.
Li-Li Jia et al.
Background: Necrotizing enterocolitis (NEC), a life-threatening neonatal gastrointestinal disease, lacks reliable biomarkers. This study explores PANoptosis-a novel inflammatory cell death pathway-in NEC pathogenesis. ...