Fetal and Pediatric Pathology最新文献

Introduction: Sertoli eosinophilic granular change and Sertoli cell nodules are incidental findings. This details focal Sertoli eosinophilic granular and Sertoli cell only changes coincident with Sertoli cell nodules in a pubertal testis with acute torsion and bell clapper deformity. Case Report: A 14-year-old with bell clapper deformity underwent orchiectomy for torsion. There was acute interstitial hemorrhage. Seminiferous tubules contained only Sertoli cells in ∼10%, 2-5% of tubules demonstrated eosinophilic granular cell changes. There were several Sertoli cell nodules. Discussion: Sertoli cell nodules and eosinophilic granular change have not been described together. The focality of Sertoli cell only changes is unusual. The combination of focal Sertoli cell only and eosinophilic granular cell changes with Sertoli nodules in a testis with bell clapper abnormality may reflect an abnormal testicular environment, either physical and/or molecularly. This combination raises concerns for future fertility if seminiferous tubular abnormalities exist and progress in the remaining testis.

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.

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.

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.

Background: 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. Case presentation: 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. Conclusion: 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.

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.

Background: 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).

Methods: 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.

Results: 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, p = 0.010) for M-CSF, 1.03 (95% CI: 1.01-1.05, p = 0.026) for MCP-1, and 1.02 (95% CI: 1.01-1.04, p = 0.027) for TRAIL.

Conclusion: This study suggests that M-CSF, MCP-1, and TRAIL are potentially involved in the etiology of KD.

Introduction: 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). Methods: 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. Results: 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%. Discussion: 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.