Fetal and Pediatric Pathology最新文献

Objective: NeoBase 2 Non-derivatized MSMS assay kit (NeoBase 2 kit) was used for newborn screening, the performance of the NeoBase 2 kit should be validated before its implementation in clinical diagnostic laboratories.

Methods: Leftover dried blood spot samples, quality control materials in the NeoBase 2 kit, and proficiency testing materials received from the NSQAP were used. Precision, accuracy, LOD, LLOQ, recovery, and stability were carried out to verify the performance of the Waters ACQUITY TQD MS/MS system with the NeoBase 2 kit for newborn screening. Cutoffs were determined and analytes requiring different cutoffs in preterm neonates were investigated.

Results: Within-run and between-run precisions ranged from 3.95% to 14.41%. The accuracy and stability were within 15%. All analytes demonstrated acceptable LOD, LLOQ, and recoveries. Cutoffs for term and preterm neonates were established.

Conclusions: The performance of the NeoBase 2 kit is acceptable and can be implemented in clinical diagnostic laboratories.

Objective: Gestational diabetes mellitus (GDM) disrupts placental function and increases risks for pregnancy. This study investigates the potential involvement of AKT1 and MAPK8 genes, known for their roles in insulin resistance and cell signaling, in GDM pathophysiology. Methods: Placental tissues from GDM patients and healthy controls were analyzed using real-time PCR to quantify gene expression levels. In silico analysis further explored the functional implications of expression changes. Results: AKT1 and MAPK8 displayed significantly altered expression in GDM placentas compared to controls (p = 0.047 and p = 0.007, respectively). In silico analysis suggests potential functional consequences related to diabetes-associated pathways. Conclusion: This study identifies differential expression of AKT1 and MAPK8 in GDM placentas, suggesting their potential roles in the disease process. Further investigation into their functional contributions could provide valuable insights into GDM pathophysiology and potential therapeutic targets.

Introduction: We describe five abnormal crania which may provide more diagnostic data for assessment of abnormal crania in newborns.

Methods: Five malformed perinatal crania from the Saxtorphian Collection are described using published prenatal abnormal cranial development criteria. These malformations were compared to normal cranial development arising from the migration of neural crest cells. Visual and photographic investigations were performed.

Results: The malformed crania were occipital encephalocele, holoprosencephaly, anencephaly, and two without a recognizable diagnosis. The anthropological crania were malformed in the same regions as formerly observed in fetal pathology. These regions were comparable to fields formed during normal cell migration from the neural crest. This has seemingly not previously been demonstrated. One undiagnosed cranium may represent a Treacher Collins syndrome (Case 3). The other undiagnosed cranium (Case 4) could be from a scaphocephalic specimen.

Discussion: Sharp borderlines between malformed and non-malformed regions in cranial syndromes may enable improvement in diagnostics.

Objective: We aimed to share the post-workshop survey results of a pediatric pathology course held in Jakarta, Indonesia. Methods: Questionnaires were distributed to participants; responses from practicing pathologists and pathologists-in-training were analyzed. Results: The respondents (107 pathologists of 143 attendees) were predominantly female (83.2%) and 31-60 years of age (77.5%). Over half (71.7%) signed out pediatric and perinatal specimens but only a third (34.3%) were comfortable handling such cases. Most (70.0%) felt that their exposure to pediatric and perinatal cases during their training was inadequate. All respondents thought that the workshop was helpful, and would highly recommend it to their colleagues. Post-workshop, the respondents claimed expansion of differential diagnoses (49.5%) and better understanding of what to include in pathology reports (41.1%). Conclusions: Our experience affirms the need for subspecialty courses to address training gaps in developing countries. Post-workshop surveys are helpful in determining actionable deficiencies and effectiveness of outreach teachings.

Introduction: We investigated the role of E-cadherin and Ber-EP4 in tubal pregnancy by comparing their expressions in epithelial and trophoblastic cells both in ectopic tubal and intrauterine pregnancies. Methods: The Formalin-fixed paraffin embedded blocks of 17 intrauterine and 17 tubal pregnancies were immunohistochemically stained with E-cadherin and Ber-EP4. Results: E-cadherin was expressed in the epithelium, villous and extravillous trophoblast in tubal and intrauterine pregnancies but not in the syncytiotrophoblast. The staining intensity was lower in the extra-villous trophoblast in tubal ectopic pregnancies compared with intrauterine pregnancies. Ber-EP4 was expressed in the epithelium of tubal and intrauterine pregnancies and only in villous cytotrophoblast. The intensity of staining in tubal pregnancy was higher than in intrauterine pregnancy. Discussion: The loss of E-cadherin expression in extra-villous trophoblast and increased expression of Ber-EP4 in the villous cytotrophoblast may play a role in the formation of tubal pregnancy by allowing the blastocyst to attach to the tubal epithelium.

Introduction: To investigate the genetic contribution of 24 GWAS-associated polymorphic gene variants on the development of children's B-lineage acute lymphoblastic leukemia (B-ALL) in an ethnically homogeneous population of Kazakhs.

Methods: A study of 205 children with B-ALL and 204 healthy children was conducted. Genotyping of polymorphic loci was carried out using the TaqMan method.

Results: Significant associations (p < 0.05) with the risk of childhood B-ALL were found for twelve variants, including rs6457327 of the HLA gene, rs4251961 of the IL1RN gene, and rs1800630 of the TNF gene. Carriage of the minor allele A of the protective rs1801157 polymorphism A of the CXCL12 gene reduces the risk of B-ALL in the Kazakh population by 40%.

Discussion: The results reveal significant associations of polymorphic genetic variants, which can serve as a basis for the development of effective methods for predicting the risk of B-ALL, early diagnosis, and timely treatment.

Objective: Wide inter-individual variations in ionizing radiation (IR) responses of neonatal hematopoietic system calls for identifying reliable biomarkers to effectively estimate radiation exposure damages in neonates.

Methods: Association between telomere length (TL) at birth and radiation sensitivity of cord blood hematopoietic stem cells (HSC) from 166 healthy newborns were investigated by assessing their clonogenic differentiation. TL was determined as terminal restriction fragment (TRF) by Southern blot method.

Results: TL correlated with surviving fractions of total progenitor colony forming cell (CFC) content at 0.75 Gy (p < 0.05), granulo-macrophagic lineage colony forming units (CFU-GM) at 0.75 Gy (p < 0.05) and erythroid burst forming unit (BFU-E) at 0.75 Gy (p < 0.05) & at 3 Gy (p < 0.05) of newborns.

Conclusion: Our results indicate risks for HSC clonogenic survival in neonates with shorter telomeres after IR exposure. These observations might aid in considering TL at birth as an assessment factor for radiation related hematopoietic challenges in children.

Background: We investigated the utilization of cell free microbial DNA (cfDNA) at a Children's Hospital. Materials and Methods: cfDNA results were assessed regarding the contribution to therapeutic decisions. Results: Of 80 tests on 59 children, 1 test was unevaluable. At least one agent was identified in 45/79 (57%) tests from 34/59 (58.2%) children, 34/79 (43.0%) were negative in 31/59(52.5%) children. Of 45 positive results, 24/79 (30%) were contributory, 15/79 (19%) were diagnostic, 6/79 (7.6%) were diagnostic but diagnosis could have been made with other testing modalities, and 3/79 (3.8%) were diagnostic with minimal previous workup. 21/79 (26.6%) positives were noncontributory. Of 35 negative results, 9/79 (11.4%) were contributory, 26/79 (33.0%) were noncontributory. Efficiency was 30.4-41.8%. cfDNA detected agents not detected by conventional techniques in 22/79 (27.8%), detected different agents in 9/79 (11.4%), and failed to detect agents identified by conventional techniques in 4 (5%). Conclusions: Efficiency of cfDNA was 30.4-41.8.

Background: The aim of this study was to investigate the methylenetetrahydrofolate reductase (MTHFR) 677 C > T gene polymorphism in term infants born small (SGA), appropriate (AGA), and large for gestational age (LGA).

Methods: The study comprised 165 newborns with SGA, LGA and AGA. Genomic DNA was isolated from the peripheral blood. Samples were genotyped for MTHFR 677 C > T gene polymorphisms using PCR-RFLP.

Results: There was a statistically significant difference between the genotype and their allelic distribution of AGA, SGA, and LGA. The newborns carrying the TT genotype had higher birth weight than those carrying the CC and CT genotypes. The frequency of MTHFR 677 TT genotype and T allele was significantly higher and was found to be linked with a higher risk in LGA than in the AGA group.

Conclusions: The MTHFR 677 C > T gene polymorphism can be used as a genetic marker in Turkish LGA newborns, but not in SGA.