Fetal and Pediatric Pathology最新文献

Introduction: Placental mesenchymal dysplasia (PMD), rare vascular and connective tissue placental anomaly can be associated with fetal intrauterine growth restriction (IUGR), stillbirth, Beckwith-Wiedemann syndrome (BWS), some chromosomal abnormalities, or phenotypically and genetically normal fetuses [1]. We reviewed a PMD case from our institution characterized by a previously undescribed chromosomal abnormality along with an unreported histopathologic finding.

Background: 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. Case reports: 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. Conclusion: 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.

Background: Caruncular sebaceous gland hyperplasia (SGH) is an uncommon, benign lesion. Its cause is still unclear. It has not been reported in the pediatric population, with few cases diagnosed in the fourth to eighth decades of life. Case Report: A 6-year-old boy presented with a slowly growing caruncular mass in the right eye. A diagnosis of caruncular SGH was made by histopathology. The clinical, histopathology, treatment, and prognosis are reviewed. Conclusion: This is the first described pediatric case of caruncular SGH that occurs since birth. There are many similarities between adult and pediatric caruncular SGH. Surgical excision is the recommended treatment.

Background: This meta-analysis aims to evaluate the potential link between common variations in the Surfactant Protein-B (SFTPB) gene and the risk of bronchopulmonary dysplasia (BPD) in preterm neonates.

Methods: All pertinent articles published prior to February 1, 2024, in PubMed, Web of Science, EMBASE, CNKI, and Scopus databases were reviewed.

Results: Nineteen case-control studies involving 1149 BPD cases and 1845 non-BPD controls, were analyzed. Combined data indicated a significant link between SFTPB -18 A > C and Intron 4 VNTR polymorphisms with increased BPD susceptibility, while the 1580 C > T polymorphism provides a protective impact on BPD initiation.

Conclusions: Pooled data indicated a significant association between SFTPB -18 A > C and Intron 4 VNTR polymorphisms with increased BPD risk, whereas the 1580 C > T polymorphism confers protection. These findings suggest a genetic susceptibility to BPD, underscoring the complex interplay of different genetic elements in its development.

Background: Autopsy has been a gold standard in cases of antenatal detected anomalies or fetal demise. This helped clinicians in getting insights into the future management. In current times, ultrasound and genomic testing has become extremely powerful in further refining the etiological basis; however, fetal autopsy still has its role even now. Material and Methods: We have discussed the utility of fetal autopsy in current times by diving the cases in seven groups. Results: Case based discussions to discuss the utility of fetal autopsy. Conclusions: We suggest that fetal autopsy should be the standard of care in case of any abnormal fetal outcomes alongwith fetal genomic testing. Fetal autopsy is complementary to the ultrasound assessment and genomic investigations in reaching the final diagnosis and provides invaluable information regarding recurrence risk which may not be available when couple plans next pregnancy.

Objectives: Reporting new neuropathological findings and clinicopathological correlations in Cornelia de Lange syndrome.

Methods and results: Cornelia de Lange syndrome has received much attention for its genetics, biochemistry, clinical approach and management, but neuropathological studies are extremely rare. Diffuse hypoplasia of the entire brain, mainly affecting the frontal cortex and, less frequently, the cerebellum, has long been the paradigm for neuropathological findings in rare affected patients. This comprehensive neuropathological study of an affected newborn demonstrates nerve cell heterotopies, poor periventricular matrix and significant hypoplasia of both hippocampi, while Golgi staining of cerebellar tissue samples shows features of nerve cell immaturity.

Conclusions: The importance of Cornelia de Lange syndrome as a cohesinopathy and some new neuropathological findings provide an opportunity to discuss and establish interesting clinicopathological correlations, especially with regard to the global intellectual disability of these patients.

Objective: To determine the role of sortilin in the pathogenesis of fetal growth restriction (FGR) by examining serum sortilin levels in fetal cord blood. Methods: This prospective case-control study was conducted at Ankara Etlik City Hospital between July 2023 and January 2024. Group 1 included 44 pregnant women with late FGR; Group 2 included 44 healthy pregnant women as controls. Results: Umbilical cord blood sortilin levels were significantly higher in the FGR group [2.96 (2.43-4.01)] compared to the control group [2.12 (1.74-3.18)] (p = 0.001). Sortilin levels negatively correlated with APGAR scores at 1 min (r=-0.281, p = 0.008) and 5 min (r=-0.292, p = 0.006). A sortilin threshold of 2.58 ng/ml predicted composite adverse neonatal outcomes with 66.7% sensitivity, 53.1% specificity, and an AUC of 0.652 (95% CI: 0.529-0.775, p = 0.031). Conclusion: This study showed that sortilin levels, which are indicators of oxidation, were higher in the cord blood of newborns with late FGR.