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Pancreatic Eosinophilic Infiltrates of Infants of Diabetic Mothers Revisited. 糖尿病母亲对婴儿胰腺嗜酸性粒细胞浸润的再观察。
IF 0.7 4区 医学
Fetal and Pediatric Pathology Pub Date : 2025-03-01 Epub Date: 2024-12-11 DOI: 10.1080/15513815.2024.2440798
Randall Craver
{"title":"Pancreatic Eosinophilic Infiltrates of Infants of Diabetic Mothers Revisited.","authors":"Randall Craver","doi":"10.1080/15513815.2024.2440798","DOIUrl":"10.1080/15513815.2024.2440798","url":null,"abstract":"<p><p><b>Background:</b> Infants of diabetic mothers (IDM) frequently show eosinophilic infiltrates around the pancreatic islets. We review 2 IDM, describe the pancreatic histology and review the literature. <b>Case reports:</b> Two term IDM died at 1 h and 43 days respectively. Both had eosinophilic infiltrates with frequent Charcot Leyden crystals surrounding the primary islets, had occasional eosinophils in these primary islets, but the infiltrate spared the acini and the intralobular islet tissue. There was no necrosis, fibrosis, or vasculitis. From the literature, this has been described as early as 28 weeks gestation, and occasionally was associated with peri-islet fibrosis. <b>Conclusion:</b> This infiltrate occurs antenatally, surrounds the primary islets, spares intralobular islet cells, persists past the neonatal period, and is not uniformly associated with islet or peri-islet injury. As eosinophils contribute to a variety of pancreatic inflammatory conditions, investigation may lead to further insights into the effect of maternal diabetes on the infant.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"172-176"},"PeriodicalIF":0.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142808125","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
Archival Stewards. 档案管理员。
IF 0.7 4区 医学
Fetal and Pediatric Pathology Pub Date : 2025-02-20 DOI: 10.1080/15513815.2025.2466803
Randall Craver
{"title":"Archival Stewards.","authors":"Randall Craver","doi":"10.1080/15513815.2025.2466803","DOIUrl":"https://doi.org/10.1080/15513815.2025.2466803","url":null,"abstract":"","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"1-3"},"PeriodicalIF":0.7,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143469821","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
A Case Report of 10q24.32 Microduplication Associated with Split Hand/Foot Malformation (SHFM) in Prenatal Diagnosis. 10q24.32微重复与手足裂形畸形（SHFM）产前诊断1例
IF 0.7 4区 医学
Fetal and Pediatric Pathology Pub Date : 2025-01-01 Epub Date: 2024-12-11 DOI: 10.1080/15513815.2024.2440465
Marco Fabiani, Katia Margiotti, Francesco Libotte, Maria Luce Genovesi, Antonella Cima, Alvaro Mesoraca, Claudio Giorlandino
{"title":"A Case Report of 10q24.32 Microduplication Associated with Split Hand/Foot Malformation (SHFM) in Prenatal Diagnosis.","authors":"Marco Fabiani, Katia Margiotti, Francesco Libotte, Maria Luce Genovesi, Antonella Cima, Alvaro Mesoraca, Claudio Giorlandino","doi":"10.1080/15513815.2024.2440465","DOIUrl":"10.1080/15513815.2024.2440465","url":null,"abstract":"<p><p><b>Introduction:</b> Split Hand/Foot Malformation (SHFM) is a rare congenital disorder often linked to genetic duplications that disrupt normal limb development. <b>Case report:</b> Here, we present a novel case of SHFM associated with a 10q24.32 microduplication, identified through prenatal diagnosis. This microduplication includes genes essential for limb development, illustrating the complex genetic mechanisms underlying this malformation. The fetus exhibited severe malformations in both hands and feet, in contrast to the mild phenotype observed in the mother, who carries the same microduplication. <b>Conclusion:</b> This case enhances our understanding of the genetic basis of SHFM and highlights the critical role of comprehensive genetic analysis in prenatal diagnostics.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"75-81"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142807726","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
Association Between Placental Pathology and Early-Onset Fetal Growth Restriction: A Systematic Review. 胎盘病理与早发性胎儿生长受限之间的关系：一项系统综述。
IF 0.7 4区 医学
Fetal and Pediatric Pathology Pub Date : 2025-01-01 Epub Date: 2024-12-11 DOI: 10.1080/15513815.2024.2437642
Beatriz Pinheiro, Inês Sarmento-Gonçalves, Carla Ramalho
{"title":"Association Between Placental Pathology and Early-Onset Fetal Growth Restriction: A Systematic Review.","authors":"Beatriz Pinheiro, Inês Sarmento-Gonçalves, Carla Ramalho","doi":"10.1080/15513815.2024.2437642","DOIUrl":"10.1080/15513815.2024.2437642","url":null,"abstract":"<p><p><b>Objective:</b> Fetal growth restriction (FGR) is defined as the failure of the fetus to achieve its genetically determined growth potential. Our aim is to compare the placental lesions present in early-onset fetal growth restriction with that of late-onset FGR. <b>Methods:</b> We performed a systematic review according to the PRISMA guideline. Observational studies, only in singleton pregnancies, evaluating the association between fetal growth restriction and placental lesions in early- versus late-onset FGR were included. <b>Results:</b> We included six articles. All studies showed a higher rate of maternal vascular malperfusion (MVM) lesions in the early-onset FGR groups when compared to late-onset ones. Five articles reported that early-onset FGR is often associated with pre-eclampsia. <b>Conclusion:</b> This review shows that early-onset FGR cases are associated with specific placental histopathology, such as maternal vascular malperfusion lesions. Placental histopathological examination is important to better understand the pathophysiology of FGR.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"40-52"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142808060","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
Is Fetal Reduction Necessary in Triplet Pregnancy? Single Tertiary Center Experience. 三胞胎妊娠有必要减少胎儿数量吗？单一三级中心体验。
IF 0.7 4区 医学
Fetal and Pediatric Pathology Pub Date : 2025-01-01 Epub Date: 2024-12-03 DOI: 10.1080/15513815.2024.2434050
Sukran Dogru, Huriye Ezveci, Fikriye Karanfil Yaman, Fatih Akkus, Pelin Bahceci, Ali Acar
{"title":"Is Fetal Reduction Necessary in Triplet Pregnancy? Single Tertiary Center Experience.","authors":"Sukran Dogru, Huriye Ezveci, Fikriye Karanfil Yaman, Fatih Akkus, Pelin Bahceci, Ali Acar","doi":"10.1080/15513815.2024.2434050","DOIUrl":"10.1080/15513815.2024.2434050","url":null,"abstract":"<p><strong>Objective: </strong>This study aims to evaluate the perinatal outcomes of triplet pregnancies reduced from triplets to twins with fetal reduction (FR), followed expectantly without FR, and reduced to triplets from higher-order multiple pregnancies (HOMP) with FR.</p><p><strong>Materials and methods: </strong>Multifetal pregnancies followed at the university hospital in the last 8 years were evaluated retrospectively. The study group was composed of three groups. The first group was those who started as trichorionic-triamniotic (TCTA) triplets and were followed by triplets. The second group consisted of HOMPs reduced to TCTA triplets with FR. The third group consisted of pregnant women who started as TCTA triplets and were reduced to dichorionic-diamniotic (DCDA) twins with FR.</p><p><strong>Results: </strong>A total of 69 multifetal pregnancies were included in the study. No statistical difference was observed between miscarriage rates in all groups (<i>p</i> = 0.190). Birth rates below 32 weeks were similar between groups (<i>p</i> = 0.158). The birth rates below 34 weeks were statistically significantly lower in the group in which DCDA was reduced by TCTA compared to the other two groups (<i>p</i> = 0.001). The first and second fetus weights in the group reduced to DCDA twins from TCTA were higher than the group followed expectantly, they were similar to the triplets reduced from HOMP. Stillbirth rates were similar in all groups (<i>p</i> = 0.057).</p><p><strong>Conclusion: </strong>In TCTA pregnancies, when the priority is three live-born babies, expectant management seems to be a reasonable choice, considering the low rate of miscarriage and high rate of survivor neonates in this group.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"14-24"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774588","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
Challenges Faced by Newborns with Inherited Metabolic Disorders and Their Mothers During Antepartum, Intrapartum, and Postpartum Periods. 产前、产时和产后遗传性代谢紊乱新生儿及其母亲面临的挑战。
IF 0.7 4区 医学
Fetal and Pediatric Pathology Pub Date : 2025-01-01 Epub Date: 2025-01-06 DOI: 10.1080/15513815.2024.2447082
Merve Koç Yekedüz, Gözde Nur Yağci, İlknur Sürücü Kara, Merve Evgin, Engin Kose, Fatma Tuba Eminoğlu
{"title":"Challenges Faced by Newborns with Inherited Metabolic Disorders and Their Mothers During Antepartum, Intrapartum, and Postpartum Periods.","authors":"Merve Koç Yekedüz, Gözde Nur Yağci, İlknur Sürücü Kara, Merve Evgin, Engin Kose, Fatma Tuba Eminoğlu","doi":"10.1080/15513815.2024.2447082","DOIUrl":"10.1080/15513815.2024.2447082","url":null,"abstract":"<p><p>Inherited metabolic disorders (IMDs) pose various obstetric challenges. In this study investigates the prenatal and perinatal profiles of pregnancies affected by IMDs and examines their obstetric outcomes. The most frequently observed antepartum issues identified among 996 patients with IMDs were intrauterine growth restriction (IUGR), intrauterine microcephaly and oligohydramnios. It was notable that mitochondrial disorders are associated with increased incidence of oligohydramnios (<i>p</i> = 0.010), IUGR (<i>p</i> < 0.001), microcephaly (<i>p</i> < 0.001) and intrauterine cardiac issues (<i>p</i> = 0.002). Furthermore, the incidence of intrauterine and natal facial malformations was significantly elevated in the patient groups with mitochondrial (<i>p</i> < 0.001) and lysosomal/peroxisomal diseases (<i>p</i> = 0.037) when compared to the other IMD groups. The mothers of newborns with mitochondrial diseases developed significantly more complications during previous pregnancies than those with other diagnoses (<i>p</i> = 0.040). Identifying risk factors and complications early on can greatly improve outcomes for both mother and infant by facilitating timely intervention and treatment.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"53-62"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142933450","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
A Rare Case of Meckel-Gruber Syndrome with Congenital Intestinal Atresia and Abdominal Pseudocyst Clinic. 一例罕见的梅克尔-格鲁伯综合征伴先天性肠闭锁和腹部假囊肿病例。
IF 0.6 4区 医学
Fetal and Pediatric Pathology Pub Date : 2025-01-01 Epub Date: 2024-10-16 DOI: 10.1080/15513815.2024.2414178
Sevgi Ulusoy Tangul, Gizem Gencan
{"title":"A Rare Case of Meckel-Gruber Syndrome with Congenital Intestinal Atresia and Abdominal Pseudocyst Clinic.","authors":"Sevgi Ulusoy Tangul, Gizem Gencan","doi":"10.1080/15513815.2024.2414178","DOIUrl":"10.1080/15513815.2024.2414178","url":null,"abstract":"<p><p><b>Background:</b> Meckel-Gruber syndrome (MGS) is a rare disease with a fatal, autosomal recessive inheritance pattern. This article mentions the neonatal MGS case followed by intestinal atresia and meconium pseudocyst clinic. <b>Case presentation:</b> Bile-containing-fluid was aspirated from the fetus, which was found to have polyhydramnios, gastric dilatation, lung hypoplasia, and cystic formation with a diameter of 68*62mm in the abdomen at 32 weeks of gestation in the intrauterine period. The cyst recurred after 2 weeks. We operated the patient with the preliminary diagnosis of meconium pseudocyst due to intrauterine perforation. The general condition was moderate in the postoperative period, and intermittent bilious vomiting continued. We performed an ileostomy on the patient due to his inability to tolerate oral intake, lack of passage, and abdominal distension. In addition, as a result of liver biopsy, cholestasis, cholestatic changes, bile-duct loss, and ductular reaction were detected. According to the current clinical findings and genetic analysis results, the patient was diagnosed with MGS. <b>Conclusion:</b> Autosomal recessive, fatal diseases such as MGS are pathologies with a high probability of recurrence with each pregnancy. Therefore, awareness needs to be increased to prevent these diseases.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"63-68"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142479659","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
Exploring Causal Correlations Between Inflammatory Cytokines and Kawasaki Disease: A Mendelian Randomization. 探索炎症细胞因子与川崎病之间的因果关系：孟德尔随机试验
IF 0.7 4区 医学
Fetal and Pediatric Pathology Pub Date : 2025-01-01 Epub Date: 2024-11-01 DOI: 10.1080/15513815.2024.2414175
Yan Pan, Fuyong Jiao
{"title":"Exploring Causal Correlations Between Inflammatory Cytokines and Kawasaki Disease: A Mendelian Randomization.","authors":"Yan Pan, Fuyong Jiao","doi":"10.1080/15513815.2024.2414175","DOIUrl":"10.1080/15513815.2024.2414175","url":null,"abstract":"<p><strong>Background: </strong>The role of inflammatory cytokines in Kawasaki disease (KD) pathogenesis is known, but causal relationships are unclear. This study investigates these connections using Mendelian randomization (MR).</p><p><strong>Methods: </strong>Genetic variations associated with KD were obtained from a GWAS including 119 cases and 6071 controls of European ancestry. Genetic data on inflammatory cytokines were sourced from a GWAS of 8,293 healthy participants.</p><p><strong>Results: </strong>The study identified significant associations between higher levels of macrophage colony stimulating factor (M-CSF), monocyte chemotactic protein-1 (MCP-1), and tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) and increased risk of KD. The odds ratios (OR) were 1.04 (95% CI: 1.01-1.08, <i>p</i> = 0.010) for M-CSF, 1.03 (95% CI: 1.01-1.05, <i>p</i> = 0.026) for MCP-1, and 1.02 (95% CI: 1.01-1.04, <i>p</i> = 0.027) for TRAIL.</p><p><strong>Conclusion: </strong>This study suggests that M-CSF, MCP-1, and TRAIL are potentially involved in the etiology of KD.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"1-13"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142559192","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
High Genetic Diagnostic Yield of Whole Exome Sequencing in Children with Epilepsy and Neurodevelopmental Disorders. 全外显子组测序在癫痫和神经发育障碍儿童中的高遗传诊断率。
IF 0.7 4区 医学
Fetal and Pediatric Pathology Pub Date : 2025-01-01 Epub Date: 2024-12-08 DOI: 10.1080/15513815.2024.2434919
Turgay Cokyaman, Eda Gül Özcan, Nihan Ecmel Akbaş
{"title":"High Genetic Diagnostic Yield of Whole Exome Sequencing in Children with Epilepsy and Neurodevelopmental Disorders.","authors":"Turgay Cokyaman, Eda Gül Özcan, Nihan Ecmel Akbaş","doi":"10.1080/15513815.2024.2434919","DOIUrl":"10.1080/15513815.2024.2434919","url":null,"abstract":"<p><p><b>Introduction:</b> Nowadays, the diagnostic rate of childhood epilepsies is increasing rapidly in parallel with the advances in genetic technology. In this study, it was aimed to reveal the diagnostic yield of whole exome sequencing (WES) in children with epilepsy and neurodevelopmental disorders (NDDs). <b>Methods:</b> Children aged 1 to 17 years with epilepsy and NDD who underwent WES were included in this retrospective study. Demographic, epilepsy and NDD characteristics, and WES results were recorded. <b>Results:</b> WES was performed in 36.6% of cases. Various single nucleotide variants were detected in 86.3% of cases tested by WES, and the diagnostic yield on a case-by-case basis was found to be 50%. <b>Discussion:</b> The diagnostic yield of WES is quite high in children with epilepsy and NDDs without a definitive diagnosis. Revealing the genetic causes of childhood epilepsy brings up effective and individualized treatment options.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"25-39"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142796480","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
Cytomegalovirus (CMV) Appendicitis in an Immunocompetent Child Masked by Prominent Lymphoid Hyperplasia. 一名免疫功能正常儿童的巨细胞病毒（CMV）阑尾炎被明显的淋巴细胞增生所掩盖。
IF 0.7 4区 医学
Fetal and Pediatric Pathology Pub Date : 2025-01-01 Epub Date: 2024-11-23 DOI: 10.1080/15513815.2024.2430249
Mariel Bedell, Tiarra Price, Qian Wang, Bryan Rea
{"title":"Cytomegalovirus (CMV) Appendicitis in an Immunocompetent Child Masked by Prominent Lymphoid Hyperplasia.","authors":"Mariel Bedell, Tiarra Price, Qian Wang, Bryan Rea","doi":"10.1080/15513815.2024.2430249","DOIUrl":"10.1080/15513815.2024.2430249","url":null,"abstract":"","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"82-84"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142695962","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
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