Fetal and Pediatric Pathology最新文献_第8页

The Impact of the "Newborn Gang" Scandal on Türkiye's Neonatal Healthcare Community. “新生儿帮”丑闻对<s:1> rkiye新生儿保健社区的影响。

IF 0.7 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-05-01 Epub Date: 2025-02-28 DOI: 10.1080/15513815.2025.2469584

Didem Yüksel

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Efficiency of Chromosome Microarray Analysis Combined with Karyotyping in Fetuses with Abnormal Down Syndrome Screening Results. 染色体微阵列分析结合核型分析对异常唐氏综合征胎儿筛查结果的有效性。

IF 0.7 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-05-01 Epub Date: 2025-04-22 DOI: 10.1080/15513815.2025.2493725

Huiling Zheng, Zhi Huang, Yuquan Li, Kaize Ding, Tian Tian

{"title":"Efficiency of Chromosome Microarray Analysis Combined with Karyotyping in Fetuses with Abnormal Down Syndrome Screening Results.","authors":"Huiling Zheng, Zhi Huang, Yuquan Li, Kaize Ding, Tian Tian","doi":"10.1080/15513815.2025.2493725","DOIUrl":"10.1080/15513815.2025.2493725","url":null,"abstract":"Objective: We aimed to explore the value of chromosome microarray analysis (CMA) and karyotyping in fetuses with a high risk for Down syndrome (DS) by serological screening and prenatal cell-free DNA(cfDNA) screening in Southwest China.Methods: We performed CMA and karyotype in 3028 pregnant women at high risk of DS.Results: Among 2,830 individuals identified as high-risk through serological screening for DS, 280 (9.89%) returned positive results. Subsequent karyotyping confirmed 51 cases of DS, 13 cases of sex chromosome aneuploidy, and 11 cases of trisomy 18. Moreover, CMA revealed 45 cases of pathogenic/likely pathogenic copy number -variations (p/lpCNVs), 128 cases of uncertain significance(VOUS), and 32 cases of regions of homozygosity(ROH), with a 13.04% (205/280) increase in CMA yield compared to the karyotype analysis. Among 227 who had a high risk of prenatal cfDNA screening for DS, 181 (79.74%) exhibited positive results, including 179 cases with DS.Conclusion: Serological screening cannot be replaced by prenatal cfDNA screening. CMA, combined with karyotyping, has a high diagnostic value for DS and should be promoted.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"215-227"},"PeriodicalIF":0.7,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143994114","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Müllerian Remnants in Appendix: A Case of Adolescent Appendiceal Endosalpingiosis. 阑尾残留的<s:1>勒氏杆菌：青少年阑尾输卵管内肿大1例。

IF 0.7 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-05-01 Epub Date: 2025-04-21 DOI: 10.1080/15513815.2025.2493129

Di Ding, Feng Tian, Jing Zhao, Jiayan Feng, Yangyang Ma

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The Great Mimicker: Langerhans Cell Histiocytosis Mimicking Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy. 伟大的模仿者：朗格汉斯细胞组织细胞增多症模拟自身免疫性多内分泌病念珠菌病外胚层营养不良。

IF 0.7 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-05-01 Epub Date: 2025-03-20 DOI: 10.1080/15513815.2025.2476463

Tanvi Jha, Prajwala Gupta, Varun Garg, Vivek Dewan

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Testicular Torsion in a 14-Year-Old with Sertoli Cell Granular Cell Change and Sertoli Nodules. 14岁睾丸扭转伴支持细胞颗粒细胞改变及支持结节。

IF 0.7 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-03-01 Epub Date: 2025-01-29 DOI: 10.1080/15513815.2025.2458665

Randall Craver

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Two GNPTAB Variations Caused Mucolipidosis II Alpha/Beta in a Chinese Family. 两种GNPTAB变异导致中国家庭II型α / β型粘脂病

IF 0.7 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-03-01 Epub Date: 2025-02-16 DOI: 10.1080/15513815.2025.2466057

Jingxin Yang, Chao Liu, Qian Geng, Liyuan Chen, Lei Zhang, Weiqing Wu

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Multinucleated Giants: Unveiling Pediatric Renal Epithelioid PEComa. 多核巨人：揭示儿童肾上皮样PEComa。

IF 0.7 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-03-01 Epub Date: 2025-02-21 DOI: 10.1080/15513815.2025.2458677

Aileen Azari-Yam, Mohammad Vasei, Moeinadin Safavi

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Efficacy of Frozen Section Technique as a Rapid Diagnostic Tool in the Diagnosis of Funisitis in Premature Deliveries. 冷冻切片技术作为快速诊断工具在早产儿输卵管炎诊断中的作用。

IF 0.7 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-03-01 Epub Date: 2025-02-07 DOI: 10.1080/15513815.2025.2457617

P Sivathangam, D Srinivasamurthy, Vani Krishnamurthy

{"title":"Efficacy of Frozen Section Technique as a Rapid Diagnostic Tool in the Diagnosis of Funisitis in Premature Deliveries.","authors":"P Sivathangam, D Srinivasamurthy, Vani Krishnamurthy","doi":"10.1080/15513815.2025.2457617","DOIUrl":"10.1080/15513815.2025.2457617","url":null,"abstract":"Introduction: Presence of leucocytic infiltration in perivascular area or in Wharton jelly indicates funisitis. While conventional histopathological examination is the gold standard, its time delay hampers timely intervention. The frozen section technique offers a rapid alternative, enabling clinicians to promptly manage preterm early onset sepsis.Methods: This is a prospective study of 18 months. 125 preterms analyzed. Frozen sections and conventional sections of umbilical cord prepared and examined for inflammation by two researchers. Diagnostic accuracy of frozen sections versus conventional sections evaluated for sensitivity and specificity in detecting funisitis.Results: The frozen section of the umbilical cord was 85.5% sensitive and 86.7% specific in diagnosing funisitis. The inter-rater agreement for diagnosing funisitis was 72.2%. Funisitis on frozen section was 82.2% sensitive and 26.3% specific in diagnosing neonatal sepsis.Conclusion: Frozen section examination of umbilical cord has good diagnostic ability in detecting funisitis. The inter-rater agreement is substantial.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"106-113"},"PeriodicalIF":0.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143371173","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Early- and Late-Onset Intrahepatic Cholestasis of Pregnancy: A Comparison of Maternal and Neonatal Outcomes. 妊娠早期和迟发性肝内胆汁淤积：孕产妇和新生儿结局的比较。

IF 0.7 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-03-01 Epub Date: 2025-02-11 DOI: 10.1080/15513815.2025.2463983

Meryem Hocaoglu, Ozgul Bulut, Irem Unal, Gokcem Inanc Karaman, Dilan Unsal Kaya, Abdulkadir Turgut

{"title":"Early- and Late-Onset Intrahepatic Cholestasis of Pregnancy: A Comparison of Maternal and Neonatal Outcomes.","authors":"Meryem Hocaoglu, Ozgul Bulut, Irem Unal, Gokcem Inanc Karaman, Dilan Unsal Kaya, Abdulkadir Turgut","doi":"10.1080/15513815.2025.2463983","DOIUrl":"10.1080/15513815.2025.2463983","url":null,"abstract":"Introduction: We investigated the maternal and neonatal outcomes of early- and late-onset intrahepatic cholestasis of pregnancy (ICP).Methods: A total of 198 pregnant women were recruited into this retrospective cohort study. Women with ICP (n = 84) were classified into two groups: (1) Early-onset ICP (n = 36): pregnancy duration at diagnosis <34 weeks; (2) Late-onset ICP (n = 48): pregnancy duration at diagnosis ≥34 weeks. Maternal and neonatal outcomes were compared among the three groups.Results: The assisted reproductive technology (ART) pregnancy rate and serum bile acid (SBA) levels were significantly higher in the early-onset ICP group with adverse perinatal outcome (APO) than those without. Notably, the birth weight was significantly lower among neonates in the early-onset group of ICP than among neonates in the late-onset ICP and control groups (p < 0.001). Birth weight (OR = 0.998, 95% CI: 0.997-0.999, p = 0.041)was associated with early-onset ICP, according to the multivariate analysis. Receiver-operating characteristic (ROC) analysis revealed that a cutoff value of 36.8 weeks for gestational age at diagnosis and 9.6 mmol/L for SBA can distinguish between ICP patients with APO and those without.Discussion: Early-onset ICP is associated with low birth weight. ART pregnancies and women with higher SBA concentrations needed to be closely monitor for possible adverse perinatal outcomes in early-onset ICP.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"114-130"},"PeriodicalIF":0.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143392373","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Pseudomonal Vasculopathy of the Central Nervous System in a 2-Year-Old Female With an IRAK4-Related Immunodeficiency. 2岁女性irak4相关免疫缺陷的中枢神经系统假单胞性血管病变

IF 0.7 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-03-01 Epub Date: 2025-01-23 DOI: 10.1080/15513815.2025.2449948

Kayla Hoerschgen, Morgan Stottlemyre, Celeste Brancato, Louis P Dehner

{"title":"Pseudomonal Vasculopathy of the Central Nervous System in a 2-Year-Old Female With an IRAK4-Related Immunodeficiency.","authors":"Kayla Hoerschgen, Morgan Stottlemyre, Celeste Brancato, Louis P Dehner","doi":"10.1080/15513815.2025.2449948","DOIUrl":"10.1080/15513815.2025.2449948","url":null,"abstract":"Background: Pseudomonas aeruginosa (PA), a gram-negative bacillus, has varied clinical manifestations with septicemia as the most lethal. PA infection is usually regarded as opportunistic and often nosocomial. Case Presentation: We present a case of a \"healthy\" pediatric patient presenting with upper respiratory symptoms who rapidly deteriorated. Blood cultures grew Pseudomonas aeruginosa shortly after death. The postmortem examination revealed Pseudomonal vasculopathy of the central nervous system and genetic testing detected an autosomal recessive pathogenic variant in IRAK-4. Discussion: Community-acquired Pseudomonal sepsis in previously healthy children is rare. Studies have found that up to 20% of children presenting with sepsis have an underlying immune defect. Deficiency of IRAK-4 predisposes patients to recurrent, life-threatening, microbial infections, notably Streptococcus pneumoniae, Staphylococcus aureus, and PA. Conclusion: A primary immunodeficiency should be suspected in a \"healthy\" child presenting with sepsis by an unexpected bacterium as the clinical consequences may be severe and the findings may have reproductive implications for the parents.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"131-137"},"PeriodicalIF":0.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143025741","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0