Fetal and Pediatric Pathology最新文献

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.

Introduction: Yolk sac tumor (YST) is a malignant germ cell tumor with 10-15% arising in extragonadal sites. Methods: A search through our institution's database from January 01, 1990, to December 31, 2020, for "yolk sac tumor" or "endodermal sinus tumor" and "liver". Results: Our search yielded three cases. A 20-month-old girl with a liver mass and serum alpha-fetoprotein (AFP) level of 46558.0 ng/mL. The neoplasm was papillary with Schiller-Duval bodies. A 2-year-old boy with hepatic masses and adrenal mass with a serum AFP of 106,604.5 ng/mL. Numerous Schiller-Duval bodies were present. A 7-month-old girl with a liver mass, lung nodules, and retroperitoneal masses. Serum AFP was in the 800s ng/mL. Hepatoid and microcystic YST were mixed with hepatoblastoma (HBL). All three cases were positive for CAM5.2, SALL4, Glypican-3, beta-catenin, and AFP. Conclusion: Hepatic yolk sac tumor should be considered in the differential of a liver mass in pediatric patients with elevated AFP.

Aim: To explore the clinical value of miR-193a-5p in neonatal acute respiratory distress syndrome (ARDS) and its role in ARDS cell model in vitro. Methods: RT-qPCR was utilized to detect miR-193a-5p level. Correlation analysis was implemented to assess the correlation between miR-193a-5p and clinical indicators (IL-6, IL-1β, TNF-α, LUS). Human lung epithelial cells induced by LPS were used to construct ARDS cell model. The effects of miR-193a-5p on cell viability, apoptosis and inflammation were evaluated by CCK-8, flow cytometry and ELISA. The target gene of miR-193a-5p was predicted and verified by StarBaseV2.0 and luciferase reporter gene, respectively. Results: MiR-193a-5p level in the ARDS group was down-regulated. MiR-193a-5p levels were negatively correlated with clinical indicators. In vitro studies revealed that up-regulation of miR-193a-5p significantly improved LPS-induced apoptosis, inflammation and viability inhibition. Conclusion: The expression of miR-193a-5p was decreased in neonatal ARDS, it is negatively correlated with the pro-inflammatory factors levels.

Objective: To investigate the clinical manifestations, radiographic features, and pathological characteristics of three cases of diffuse hemispheric gliomas, H3G34-mutant (H3G34 DHG).

Methods: This study used a single-center retrospective cohort approach to analyze 45 pediatric-type diffuse high-grade glioma cases.

Results: Histologically, case 1 and case 2 had glioblastoma structures, and case 3 had primitive neuroectodermal tumor (PNET) morphology with ganglion cell differentiation. Immunohistochemical staining revealed diffuse expression of H3G34R and P53, but no expression of Olig2, ATRX, IDH1/2 and BRAF V600E in tumor cells in all three cases.

Conclusions: H3 G34 DHG occurs more significantly in younger patients, and nearly all lesions are located in the cerebral hemisphere. MRI showed mass effects, edema and mild enhancement. The histological type showed glioblastoma structure and PNET morphology. Immunohistochemistry showed that the expression of H3G34R was more significant in PNET morphology.

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.

Introduction: Split Hand/Foot Malformation (SHFM) is a rare congenital disorder often linked to genetic duplications that disrupt normal limb development. Case report: 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. Conclusion: This case enhances our understanding of the genetic basis of SHFM and highlights the critical role of comprehensive genetic analysis in prenatal diagnostics.

Objective: 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. Methods: 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. Results: 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. Conclusion: 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.

Objective: 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.

Materials and methods: 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.

Results: A total of 69 multifetal pregnancies were included in the study. No statistical difference was observed between miscarriage rates in all groups (p = 0.190). Birth rates below 32 weeks were similar between groups (p = 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 (p = 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 (p = 0.057).

Conclusion: 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.

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 (p = 0.010), IUGR (p < 0.001), microcephaly (p < 0.001) and intrauterine cardiac issues (p = 0.002). Furthermore, the incidence of intrauterine and natal facial malformations was significantly elevated in the patient groups with mitochondrial (p < 0.001) and lysosomal/peroxisomal diseases (p = 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 (p = 0.040). Identifying risk factors and complications early on can greatly improve outcomes for both mother and infant by facilitating timely intervention and treatment.