Ultrasound-guided percutaneous cannulation for extracorporeal membrane oxygenation in children / 中华儿科杂志

Objective: To evaluate the effectiveness and safety of ultrasound-guided percutaneous cannulation for extracorporeal membrane oxygenation (ECMO) in children. Methods: In this retrospective observational study, 66 cases who underwent non-cardiac surgery ECMO in pediatric intensive care unit (PICU) of Shanghai Children's Hospital from May 2016 to April 2021 were collected. The demographics, model of ECMO support, type and size of arteriovenous cannulas, way of catheterization and complications were recorded and summarized. Patients were divided into percutaneous cannulation group and surgical cannulation group according to catheterization strategies. The demographics, duration of cannulation and ECMO support, ECMO weaning rate and hospital survival rate were compared among two groups. χ2 and nonparametric rank sum test were used for comparison. Results: Among the 66 patients who received ECMO, 38 were male and 28 were female, with age 44.5 (12.0, 83.5) months and weight 15.0 (10.0, 25.0) kg; 21 patients underwent percutaneous cannulation, with a success rate of 95% (20 cases). Point-of-care ultrasound was performed for all percutaneous cannulation cases. The duration of percutaneous cannulation was significantly shorter than that of surgical cannulation (26.0 (23.3, 30.3) vs. 57.0 (53.8, 64.0) min, Z=6.31, P<0.001). Successful percutaneous cannulation cases were aged 70.5 (23.8, 109.5) months, and their weight was 23.2 (13.6, 37.0) kg. Ten cases were initially given veno-venous (VV) ECMO support, and 10 cases were given veno-arterial (VA) ECMO support. ECMO arterial cannulas were sized from 8 F to 17 F, and venous cannulas sized from 10 F to 19 F. For VV-ECMO, the right internal jugular and femoral veins were used as vascular access, while VA-ECMO used right internal jugular vein-femoral artery or right femoral vein-left femoral artery approach. Only one patient suffered severe complication (superior vena cava perforation). There was no catheter-related bloodstream infection. Conclusion: Ultrasound-guided percutaneous cannulation for ECMO can be performed with a high rate of success and safety in children.

A challenge for colorectal surgeons: pathogenesis, progression and management of the secondary tumors of the ovary / 中华胃肠外科杂志

A common clinical problem encountered by colorectal surgeons is the secondary tumors of the ovary (STO), particularly in young female patients. Most STO are from the digestive tract, and the known possible metastatic mechanisms include lymphatic, hematogenous, and intraperitoneal spreading. The molecular and histopathological characteristics of STO from different sites are diverse. It is particularly important to correctly identify the origin and feature of STO, which should be clarified by combining medical history, histopathology, immunohistochemistry, molecular biology, imaging and other means. The prognosis of patients with STO is poor in general. Comprehensive therapies based on surgical resection can benefit some patients. There is no specific treatment for STO at present, but not giving up easily on these patients is the right choice that every surgeon should understand.

Comparison between peel and pulp of Aurantii Fructus Immaturus by UPLC fingerprint and multicomponent quantitative analysis / 中国中药杂志

Twenty batches of Aurantii Fructus Immaturus(AFI) were collected, with their peel and pulp taken as research objects. Ultra-high performance liquid chromatography(UPLC) fingerprints of peel and pulp of AFI were established with 17 common peaks in peel and 10 in pulp. Six kinds of flavonoids were identified, i.e., narirutin, naringin, rhoifolin, hesperidin, neohesperidin and nobiletin. The Similarity Evaluation System for Chromatographic Fingerprint of Traditional Chinese Medicine was employed for similarity analysis, which showed that the chromatographic peaks of peel and pulp were basically similar to their respective reference fingerprints, with all similarities greater than 0.90. The similarity between peel and pulp of the same batch of AFI ranged from 0.850 to 0.983. Cluster analysis(CA), principal component analysis(PCA), and orthogonal partial least squares discriminant analysis(OPLS-DA) were conducted on the common peaks of peel and pulp of AFI with SPSS 17.0 and SIMCA 14.1. Combined with the reference fingerprints, these analyses revealed 12 differential components regarding peel and pulp. Further, the content of the 6 flavonoids and synephrine was determined. The proposed method integrating UPLC fingerprint and multicomponent quantitative analysis is applicable to the quality evaluation of AFI. The results provide a certain basis for the scientific connotation about the appearance characteristic of AFI.

Mutational detection of full-length mixed lineage leukemia gene in patients with de novo AML-M4 and M5 / 中国实验血液学杂志

Abnormalities of chromosome 11 involving mixed lineage leukemia (MLL) on 11q23 are often seen in acute myeloid leukemia (AML)-M5 or AML-M4. The fusion gene of MLL-PTD and MLL plays a critical role in the pathogenesis of these AML. However, rare chromosome abnormalities have been identified in this type of leukemia. To explore whether there were other MLL gene mutations at M4 and M5, in this study all of the MLL exons were sequenced at cDNA level. 25 patients with de novo AML-M4 or M5 with normal karyotypes excluding M4eo and MLL fusion gene or MLL-PTD were selected, the amplification and direct sequencing analysis of full length MLL gene exons were carried out, then the mutations found were verified at genomic DNA level. Furthermore, the point mutations were tested in normal samples and a larger group of AML patients using the platform of Mass Array. The results showed that high-frequency deletion/insertion and point mutations in RD, PHD, TAD and SET domains of MLL were found, while these alterations in normal samples and other subtypes of AML samples were also verified, and without significant difference (P > 0.05). It is concluded that a variety of deletions/insertions in MLL mRNA and point mutations are respectively alternative splicing of MLL gene at transcriptional level and single nucleotide polymorphism. These alternations together constituted genetic polymorphisms of MLL. Although these variations may not play a direct role in the molecular pathogenesis of AML-M4 or M5, their correlations to clinical treatment and prognosis need to be further explored.

Application of multiplex rt-PCR assay for screening rare or cryptic chromosome translocations in de novo patients with acute myeloid leukemia / 中国实验血液学杂志

This study was aimed to investigate the clinical feasibility of using multiplex PT-PCR assay for screening rare/cryptic chromosome translocations in patients with de novo acute myeloid leukemia. For 126 patients with de novo AML-M4/M5 without common chromosome translocations including t(15;17), t(8;21) and t(16;16), 3 parallel multiplex RT-PCR assays were set up to detect 6 mll-related gene rearrangements (mll/af10, mll/af17, mll/ell, mll/af9, mll/af6 and mll/enl) with low detection rate and 4 rare fusion genes (dek/can, tls/erg, aml1/mds (evi1) and npm/mlf1). The results showed that 11 patients with positive result from 126 patients were detected which involved in 5 molecular abnormalities. Among them, 10 cases were AML-M5 (16.67%), 1 cases AML-M4 (1.51%). The marker chromosomes were observed in 2 cases out of 11 cases through conventional karyotyping analysis, the karyotyping analysis in 1 case was not performed because this case had 1 mitotic figure only, no any cytogenetic aberrations were found in other 8 cases through R-band karyotyping analysis. It is concluded that multiplex RT-PCR designed in this study can quickly, effectively and accurately identify the rare/cryptic chromosome translocations and can be used in clinical detection.

Genetic susceptibility of single nucleotide polymorphism in MGMT to non-Hodgkin lymphoma / 中华血液学杂志

<p><b>OBJECTIVE</b>To evaluate the relationship between five single nucleotide polymorphism loci in the MGMT, XPA, XPD and XPG genes and the prevalence of non-Hodgkin's lymphoma.</p><p><b>METHODS</b>A case-control study of 73 lymphoma cases and 500 healthy controls was conducted and the Mass-ARRAY method was applied for detection of MGMT L84F, MGMT K178R, XPA TSS+62, XPD K751Q and XPG TSS+372.</p><p><b>RESULTS</b>MGMT L84F (T allele) was associated with an increased risk of non-Hodgkin lymphoma (OR=2.085, 95%CI=1.069-4.068, P=0.029), mainly in B-cell lymphoma, of which the risk increased by 2.403-fold (OR=2.403, 95%CI=1.103-5.235, P=0.024). No statistically significance was found for MGMT K178R, XPA TSS+62, XPD K751Q and XPG TSS+372.</p><p><b>CONCLUSION</b>Single nucleotide polymorphism in the MGMT gene may closely related to the occurrence of non-Hodgkin lymphoma, especially of B-cell subtype.</p>

FIP1L1-PDGFRalpha alone or with other genetic abnormalities reveals disease progression in chronic eosinophilic leukemia but good response to imatinib / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>The FIP1L1-PDGFRalpha fusion gene plays an important role in the pathogenesis of chronic eosinophilic leukemia (CEL) and is a direct therapeutic target of the tyrosine kinase inhibitor imatinib mesylate.</p><p><b>METHODS</b>In 24 hypereosinophilic syndromes (HES) patients, using reverse transcriptase-polymerase chain reaction (RT-PCR), nested PCR and sequence analysis, we investigated the frequency of FIP1L1-PDGFRalpha and other abnormalities of tyrosine kinase family genes like PDGFRalpha, PDGFRbeta, C-KIT, FGFR1, ABL and FLT3 as well as gene mutation "hotspots", like MPL515 and JAK2V617F, frequently involved in myeloproliferative diseases. Fluorescence in situ hybridization was used to confirm the 4q12 deletion.</p><p><b>RESULTS</b>The FIP1L1-PDGFRalpha fusion transcript was found in 8 (33%) of 24 patients with HES, corresponding to the chromosome 4q12 deletion identified by FISH. The FIP1L1-PDGFRalpha-associated patients diagnosed with CEL, frequently had hepatosplenomegaly, eosinophil-related tissue damage, anemia, thrombocytopenia, myelofibrosis and a short overall survival time. Nevertheless, imatinib mesylate induced rapid and complete hematological responses in treated FIP1L1-PDGFRalpha cases, followed by molecular remission and reversal of myelofibrosis. FIP1L1-PDGFRalpha fusion could co-exist with other mutations of tyrosine kinase family genes, like FLT3 or PDGFRbeta. We also demonstrated that the SNPs of PDGFRbeta were associated with selective splicing of exon 19 in case 20.</p><p><b>CONCLUSIONS</b>Correlating the CEL genotype with phenotype, FIP1L1-PDGFRalpha emerges as a relatively homogeneous clinicobiological entity that co-exists with other abnormalities of tyrosine kinase family genes. It reflects the disease progression and there is a good response to imatinib. Detection of the FIP1L1-PDGFRalpha fusion gene is valid for both CEL diagnosis and therapy surveillance.</p>

Study of mutation and single nucleotide polymorphism of PDGFRbeta and SHIP gene in acute myeloid leukemia / 中华血液学杂志

<p><b>OBJECTIVE</b>To investigate the significance of mutation and single nucleotide polymorphism (SNP) of class III receptor tyrosine kinases such as PDGFRbeta and SHIP in acute myeloid leukemia (AML) patients.</p><p><b>METHODS</b>Screening of the mutation and SNP of PDGFRbeta and SHIP by genomic PCR, RT-PCR, directly sequencing and Mass-ARRAY system was carried out in 273 AML patients.</p><p><b>RESULTS</b>The mutations of PDGFRbeta R685C and SHIP Q1153L were detected for the first time in AML patients. The positivity ratio was 0.73% and 0.36% respectively.</p><p><b>CONCLUSION</b>The mutations of PDGFRbeta R685C and SHIP Q1153L may contribute to leukemogenesis of AML.</p>