查看更多>>摘要：Aim This study investigated the effect of FoxM1 on the biological behavior of neuroblastoma (NB) cells in vitro and the association between FoxM1 and PI3K/AKT pathways in NB cell lines.Materials and methods:Recombinant plasmid pcDNA3.1 (+)-FoxM1 and FoxM1-specific small interfering RNA (siRNA) were transfected into IMR-32 cells by liposome transfection. The expression of FoxM1, AKT and PI3K were determined by qRT-PCR and western blotting. The effect of FoxM1 and PI3K/AKT pathways on the cell cycles and apoptosis were analyzed by flow cytometry. Cell viability and proliferation ability were assessed by CCK8 and colony formation assay.Results:Knockdown of FoxM1 promoted NB cell apoptosis and G1-phase cell cycle arrest significantly, increased the expression of apoptosis-related proteins, and suppressed the phospho-activation of PI3K and AKT. Over-expression of FoxM1 had the opposite effects.Conclusion:FoxM1 knockdown inhibited NB cell proliferation and induced apoptosis through inhibiting activation of PI3K and AKT.
查看更多>>摘要：Objective We investigated three-dimensional (3 D) reconstruction for the assessment of the tumor margin microstructure of hepatoblastoma (HB).Methods:Eleven surgical resections of childhood hepatoblastomas obtained between September 2018 and December 2019 were formalin-fixed, paraffin-embedded, serially sectioned at 4 mu m, stained with hematoxylin and eosin (every 19th and 20th section stained with alpha-fetoprotein and glypican 3), and the digital images of all sections were acquired at 100x followed by image registration using the B-spline based method with modified residual complexity. Reconstruction was performed using 3 D Slicer software.Results:The reconstructed orthogonal 3 D images clearly presented the internal microstructure of the tumor margin. The rendered 3 D image could be rotated at any angle.Conclusions:Microstructure 3 D reconstruction is feasible for observing the pathological structure of the HB tumor margin.
El Nahla, SanaaAbdul-Mughni, ArefDessouki, AminaHassan, Said...
15页
查看更多>>摘要：Background Khat leaves are chewed by many people worldwide, mainly in Africa and the southwest Arabian peninsula.Materials and methods:27 apparently healthy adult New Zealand rabbits (3 males & 24 females) of 2.5 +/- 0.5 kg body weight were used in this work. The animals were divided into 4 groups (control, low, medium and high doses groups). The khat extract was administered orally during (8th -18th) day of gestation. The mothers were sacrificed on the 29th day of gestation. The skeletons of the fetuses were stained with Alizarin Red S and Alcian Blue.Results:Skeletal examination of the fetuses of treated dams showed several types of malformations and variations in all treated groups such as unossified phalanges, deformed sternum, completely unossified vertebral lamina and opened anterior and posterior fontanelles, and reduced length of limb long bones.Conclusion:These findings support the teratogenic effect of the khat on the developing rabbit fetus.
查看更多>>摘要：Background Roberts syndrome is a genetic disorder characterized by tetra-phocomelia with abnormalities of ESCO2. We report a male stillborn with tetra-phocomelia and no ESCO2 mutation.Case report:Pre- and post-natal imaging and autopsy findings included schizencephaly, phocomelia of four limbs, micrognathia, oligodactyly, and cardiopulmonary malformations. Microcephaly on pre-natal imaging was not confirmed by autopsy examination. Karyotype, prenatal chromosome microarray and ESCO2 gene testing were normal.Conclusion:Given the various skeletal anomalies found on autopsy and imaging evaluations, at least phenotypically, our case appeared to conform into Roberts syndrome spectrum. Since the infant did not have the mutation associated with this disorder, this infant could be labeled as the first report of a pseudo-Roberts syndrome because many of his phenotypic anomalies are characteristic of Roberts syndrome in absence of the ESCO2 gene mutation.
查看更多>>摘要：Background This study aims to investigate whether maternal SARS-CoV-2 status affects placental pathology.Methods:A retrospective case-control study was conducted by reviewing charts and slides of placentas delivered between April 1 to July 24, 2020. Clinical history of "COVID-19" was searched in Pathology Database (CoPath). Controls were matched with SARS-CoV-2-negative women with singleton deliveries in the 3(rd)-trimester. Pathological features were extracted from placental pathology reports.Results:Twenty-one 3(rd)trimester placentas from SARS-CoV-2-positive women were identified and compared to 20 placentas from SARS-CoV-2-negative women. There were no significant differences in individual or group gross or microscopic pathological features. Within the SARS-CoV-2+ group, there are no differences between symptomatic and asymptomatic women.Conclusion:Placentas from SARS-CoV-2-positive women do not demonstrate a specific pathological pattern. Pregnancy complicated with COVID-19 during the 3(rd)trimester does not have a demonstrable effect on placental structure and pathology.
查看更多>>摘要：Objective This study aims to characterize the molecular signatures of sacrococcygeal teratomas (SCTs).Methods:Three SCTs were analyzed with whole genome genotyping. RNA sequencing of 10 SCTs dominated by mature, immature and neuroglial elements was analyzed. Expression in SCT-samples with different elements were compared to each other and to a reference group of malignant pediatric tumors. Macrophages, T- and B-lymphocytes were detected by immunohistochemistry.Results: No chromosomal imbalances were detected. SCTs showed overexpression of genes involved in neurosignaling, DNA-binding molecules and pathways of early germ cells. Genes associated with immune effector processes were overexpressed in mature compared to immature SCTs, and immune cell infiltration was found predominantly around mature epithelial elements.Conclusion:The broad repertoire of histological elements in SCTs reflects differences in transcriptional regulation rather than differences in gene copy numbers. A paucity of immune response in immature SCTs may be a factor contributing to their uninhibited growth.
查看更多>>摘要：Aim We investigated the association of fetal serum thiol/disulfide homeostasis and ischemia-modified albumin (IMA) levels with fetal distress (FD).Methods:Umbilical cord blood for native thiol, total thiol, disulfide, albumin, and IMA analysis was obtained from 44 pregnant women over 34 weeks gestation undergoing cesarean section due to non-acute FD, and from 61 healthy pregnant women who underwent elective cesarean sectionResults:Native thiol and total thiol levels were significantly lower in the FD group (p = 0.02 andp = 0.014, respectively). Although disulfide/native thiol and disulfide/total thiol ratios were higher in the FD group, the difference was statistically insignificant (p = 0.805). The IMA levels were significantly higher in the FD group (p = 0.013).Conclusion:The thiol-disulfide homeostasis shifts toward the oxidant direction during the FD pathogenesis and the increased IMA levels may be the best indicator of an underlying non-acute ischemic condition.
查看更多>>摘要：Objectives To explore the clinical features, autoantibodies, and outcome of neonatal lupus erythematosus (NLE). Methods: We retrospectively reviewed all NLE cases from January 2012 to May 2019 that occurred in our department. Results: Cutaneous, cardiac, hematologic, and hepatobiliary manifestations were found in 36.7%, 56.7%, 56.7%, and 30.0% of cases, respectively. The presence of anti-SSA antibodies was correlated with cardiac presentation (p = .026) and the presence of anti-SSB antibodies was associated with cutaneous lesions (p = .015). During the follow-up, one patient with a third-degree atrioventricular block died, and a third-degree AV block persists in a child without a pacemaker at 4-years of age. No other manifestations of NLE were observed after the age of 12 months. Conclusions: Anti-SSA and anti-SSB are associated with cardiac and cutaneous manifestations in NLE. Most children with NLE have excellent outcomes with symptom resolution by one year. Complete congenital heart block may persist.
Wan, ZhihuiRosenbaum, Eric R.Liu, WeiSong, Boyan...
8页
查看更多>>摘要：Background Phenylalanine-restricted diets have been the basis of therapy for phenylketonuria; however, little is known how this treatment effects homeostasis of other amino acids. This study aimed to assess blood amino acid alterations in phenylketonuric neonates before and after treatment to identify any residual amino acid alterations with phenylalanine restriction in these treated children. Methods: Concentrations of 11 amino acids were measured using liquid chromatography-tandem mass spectrometry performed on dried blood spots. Results: Elevated blood phenylalanine, arginine, citrulline, valine, methionine concentrations and decreased tyrosine, proline concentrations were observed in phenylketonuria neonates relative to controls, of which phenylalanine, arginine, methionine, tyrosine, and proline levels could be either partially or completely restored with dietary intervention, whereas citrulline and valine were not restored and remained higher. Conclusions: Blood amino acid homeostasis is disrupted in phenylketonuria. Although dietary intervention adjusts amino acid homeostasis in the direction of a healthy equilibrium, complete restoration is not achieved.
查看更多>>摘要：Introduction Infantile fibrosarcoma (IFS) usually arises in the extremities during the first 12 months of life and responds well to surgery. It is unusual in the oropharynx or the prenatal period.Case report:A giant solid mass was first detected in the oropharynx and anterior neck at 24 weeks of gestation by ultrasound and fetal MRI. An EXIT procedure with intrapartum intubation with appropriate supportive therapy was successful. The diagnosis of IFS was made postpartum, and the lesion responded to neoadjuvant chemotherapy.Conclusion:IFS may arise as early as 24 weeks of gestation. In this case, an EXIT procedure allowed postpartum diagnosis with subsequent treatment.
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