Objective:To study the clinical features of neonatal hyperthyroidism.Methods:From September 2013 to September 2020, clinical data of neonates with hyperthyroidism admitted to the neonatal intense care unit of our hospital were retrospectively collected and analyzed.Results:A total of 7 neonates were included. The average gestation age was (35.8±2.3) weeks with 5 cases had GA<37 weeks. The median age of diagnostic was 16 d (7~18 d). The common clinical manifestations included tachycardia, irritability, low-grade fever, hyperhidrosis, bulimia, poor weight gain, diarrhea and jaundice. The levels of serum free triiodothyronine (FT 3) and thyroxine (FT 4) were elevated in all 7 cases and thyroid stimulating hormone (TSH) were decreased. The Doppler ultrasound of thyroid gland in two neonates revealed enlarged thyroid gland with abundant blood flow. All 7 mothers had hyperthyroidism with 4 mothers provided the history of hyperthyroidism and the other 3 were also confirmed after their infants were diagnosed. All 7 infants were treated with anti-thyroid drugs (ATD) and 2 were additionally given β-blockers to control heart rate. The median ATD duration was 40 d (7~58 d). 2 cases (both preterm infants) had slight decrease in FT 4 during medication. FT 4 of all 7 cases returned to normal before TSH. Conclusions:Neonatal hyperthyroidism has various and nonspecific clinical manifestations. Early diagnosis and timely treatment are important to prevent short-term and long-term adverse outcomes. Whether their mothers provide definite history of thyroid disorder or not, the thyroid function of the suspected neonates should be carefully monitored.

Objective:To investigate the molecular genetic and clinical characteristics of MEF2D-BCL9 fusion gene-positive acute B-cell lymphoblastic leukemia (B-ALL), and to provide the reference for the diagnosis and treatment of the disease.Methods:The medical record and experimental examination data of a 18-year-old female MEF2D-BCL9 fusion gene-positive B-ALL patient were retrospectively analyzed. The clinical manifestations and biological characteristics of MEF2D-BCL9 fusion gene-positive B-ALL were summarized.Results:This 18-year-old female patient was treated in a local hospital in December 2018 and was diagnosed as B-ALL. She achieved complete remission after chemotherapy and recurred at 6 months after the initial onset, and then she was admitted to Hebei Yanda Ludaopei Hospital in the 9 months after the initial onset.MEF2D-BCL9 fusion gene was detected through RNA-sequencing (RNA-seq) and verified by using polymerase chain reaction and Sanger sequencing. Bone marrow cell morphology was similar to mature B cells with vacuoles but without characteristic chromosome karyotype abnormalities. The patient achieved remission after VLD regimen chemotherapy, chimeric antigen receptor T-cell (CAR-T) therapy and bridged to allogeneic hematopoietic stem cell transplantation (allo-HSCT). She has maintained complete remission for 2 years at the last follow-up in February 2022.Conclusions:MEF2D-BCL9 fusion gene-positive B-ALL is characterized with high risk, early relapse and poor prognosis. These patients may benefit from CAR-T and allo-HSCT. It further emphasizes the importance of taking MEF2D-BCL9 fusion gene into the detection or identification by using RNA-seq, particularly for those newly diagnosed B-ALL patients in children and adolescents with specific bone marrow morphology.

Objective:To analyze fetal sex chromosome abnormalities in prenatal diagnosis based on amniotic fluid cell culture.Methods:Clinical data of 12 164 pregnant women who underwent amniocentesis in Maternal and Child Health Hospital of Hunan Province from January 2017 to December 2020 were retrospectively analyzed. For those diagnosed with fetal sex chromosome abnormalities, the results of karyotyping and chromosome microarray analysis (CMA) were analyzed and described.Results:(1) Among the 12 164 cases, fetal sex chromosome abnormalities were detected in 387 cases (3.2%), including 351 cases with abnormal sex chromosome karyotype and 36 with sex chromosome microdeletion/microduplication. (2) High-risk patients indicated by non-invasive prenatal test (NIPT) had the highest proportion of sex chromosomes abnormalities (74.2%, 287/387), followed by those with other ultrasound abnormalities (8.5%, 33/387), high risk of Down syndrome screening (7.0%, 27/387), advanced maternal age (4.7%, 18/387), history of adverse pregnant or delivery (3.3%, 13/387), and nuchal translucency thickening or cervical lymphatic hygroma (2.3%, 9/387). (3) Detected chromosome karyotype abnormalities included numerical abnormalities [73.2%(257/351)], mosaicism [18.8(66/351)], and structural abnormalities [8.0%(28/351)], among which, 47,XXY [46.7%(120/257)], 45,X/46,XX[48.5%(32/66)], and X chromosome deletion [39.3%(11/28)] were the most common, respectively. Among 36 sex chromosome microdeletions/microduplications cases, 15(41.7%) were with pathogenic copy number variation (CNV), including 14 cases of X chromosome microdeletion/microduplication; 7(19.4%) with benign CNV, and 14(38.9%) with CNV of unknown clinical significance. The fragment size [ M (min-max)] of the 15 pathogenic CNV was 1.68 Mb(0.37-9.20 Mb). Of the nine cases with microdeletions, seven were found with deletion in the Xp22.31 region. Conclusions:Numerical abnormalities are the most common fetal sex chromosome abnormalities detected from amniotic fluid samples. Others included mosaicism and chromosome structure abnormalities.

OBJECTIVE: To detect fusion gene with pathological significance in a patient with refractory and relapsed acute B cell lymphoblastic leukemia (B-ALL) and to explore its laboratory and clinical characteristics. METHODS: Transcriptome sequencing was used to detect potential fusion transcripts. Other laboratory results and clinical data of the patient were also analyzed. RESULTS: The patient was found to harbor TCF3 exon 17-ZNF384 exon 7 in-frame fusion transcript. The minimal residual disease (MRD) has remained positive after multiple chemotherapy protocols including CD19-, CD22- targeted chimeric antigen receptor T cells immunotherapy. The patient eventually achieved complete remission and sustained MRD negativity after allogeneic hemopoietic stem cell transplantation (allo-HSCT). CONCLUSION Transcriptome sequencing can effectively detect potential fusion genes with clinical significance in leukemia. TCF3-ZNF384 positive B-ALL has unique laboratory and clinical characteristics, may not well respond to chemotherapy and immunotherapy, and is more likely to relapse. Timely allo-HSCT treatment may help such patients to achieve long-term disease-free survival. TCF3-ZNF384 positive B-ALL is not uncommon in pediatric patients but has not been effectively identified.
B-Lymphocytes ; Basic Helix-Loop-Helix Transcription Factors/genetics* ; Child ; Hematopoietic Stem Cell Transplantation ; Humans ; Laboratories ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/therapy* ; Trans-Activators/genetics* ; Transcriptome

The new wave of artificial intelligence pushed by deep learning algorithms has dramatically promoted the development of big data analysis technology. On the other hand, advances in life sciences represented by high-throughput genome sequencing have provided massive medical data. Artificial intelligence technology has also provided a powerful tool for hematological malignancy research. This article introduces related research progress in the 61st American Society of Hematology Annual Meeting.

Objective:To conduct periodic revalidation of the 15 items and 43 terms autoverification rules of blood analysis after 1 year of application, analyze the application suitability and make the rules improved.Methods:Track the results of 528 010 blood analysis samples of our hospital from August 1, 2019 to January 31, 2020, and analyze the pass rate and interception rate of autoverification; 600 specimens in total were selected randomly for microscope examination, including 300 specimens which touched autoverification rules (1 012 items of autoverification rules) and were intercepted by autoverification and 300 specimens which untouched autoverification rules and were released by autoverification. The abnormal characteristics and unacceptable Delta check of the specimens also need to be concerned at the same time.The false negative rate and false positive rate, true negative rate, true positive rate and pass correct rate of autoverification were verified and compared with the rate of the second phase verification when the autoverification rule was established. The false negative rate, false positive rate, true negative rate and true positive rate of the Delta check rule which 54 716 specimens touched were calculated and compared with the second phase verification rate when the autoverification rule was established.The results of microscopic examination were used as the gold standard for the calculation of the rates, and P<0.05 was considered as a significant difference. The false positive and true positive of 1 012 autoverification rules were analyzed item by item.The false positive and true positive of 108 specimens which touched blast cell autoverification rule were analyzed terms by terms. The mean TAT and median TAT of 528 010 specimens and 193 750 outpatient specimens were calculated respectively, and the report percentages of 528 010 samples that TAT<30, 30-60　and>60 min were calculated respectively. Analyze and evaluate the application suitability of autoverification rules to juge whether they meet the needs of doctors and laboratory. The design process and the rules and application process of autoverification were optimized and improved.Results:The autoverification pass rate was 63.06% (332 971/528 010), the interception rate was 36.94% (195 039/528 010). The false negative rate was 1.00% (1/600), the false positive rate was 12.67% (76/600), the true negative rate was 49% (294/600), the true positive rate was 37.33% (224/600), and the correct rate was 98% (294/300). The pass rate, true negative rate, true positive rate and correct rate of the periodic reverification group were higher than the second phase verification group, the false negative rate and false positive rate were lower than that the second phase verification group. The false negative rate and true positive rate of the Delta check of periodic verification group were lower than that the second phase verification group, the false positive rate and true negative rate were higher than the second phase verification group, there were significant differences in the comparition results. The mean TAT of 528 010 specimens was25 min, and the median TAT was 22 min. The mean TAT of 193 750 outpatient specimens was 23 min, and the median TAT was 20 min. The report percentages of 528 010 samples that TAT<30 min, 30 min-60 min and>60 min were 83.30% (439 819/528 010), 8.00% (42 250/528 010) and 8.70% (45 941/528 010), respectively.Conclusion:The results of periodic revalidation of autoverification after 1 years application show that the 15 items and 43 terms autoverification rules of blood analysis could meet requirements about the accuracy and efficiency of the laboratory, and have a good suitability for application.

This retrospective analysis aimed to investigate the mutation profile of 16 common mutated genes in de novo acute myeloid leukemia (AML) patients. A total of 259 patients who were diagnosed of de novo AML were enrolled in this study. Mutation profiling of 16 candidate genes were performed in bone marrow samples by using Sanger sequencing.We identified at least 1 mutation in 199 of the 259 samples (76.8%), and 2 or more mutations in 31.7% of samples. FLT3-ITD was the most common mutated gene (16.2%, 42/259), followed by CEBPA (15.1%, 39/259), NRAS (14.7%, 38/259), and NPM1 (13.5%, 35/259). Concurrence was observed in 97.1% of the NPM1 mutated cases and in 29.6% of the double mutated CEBPA cases. Distinct patterns of co-occurrence were observed for different hotspot mutations within the IDH2 gene: R140 mutations were associated with NPM1 and/or FLT3-ITD mutations, whereas R172 mutations co-occurred with DNMT3A mutations only. Concurrence was also observed in 86.6% of epigenetic regulation genes, most of which co-occurred with NPM1 mutations. The results showed certain rules in the mutation profiling and concurrence of AML patients, which was related to the function classification of genes. Defining the mutation spectrum and mutation pattern of AML will contribute to the comprehensive assessment of patients and identification of new therapeutic targets.
Adolescent ; Adult ; Aged ; CCAAT-Enhancer-Binding Proteins ; genetics ; Child ; Child, Preschool ; China ; DNA Mutational Analysis ; Female ; GTP Phosphohydrolases ; genetics ; Gene Expression Profiling ; Gene Frequency ; Genetic Predisposition to Disease ; Humans ; Kaplan-Meier Estimate ; Leukemia, Myeloid, Acute ; genetics ; Male ; Membrane Proteins ; genetics ; Middle Aged ; Mutation ; Nuclear Proteins ; genetics ; Phenotype ; Retrospective Studies ; Young Adult ; fms-Like Tyrosine Kinase 3 ; genetics

Specialty English of Medical Laboratory is a comprehensive and overlapping discipline and plays a major role in multiple medical courses, including Life Science, Clinical Medicine and Laboratory Medicine.However, its teaching practices are limited due to the extensive contents, scattered basic knowledge points, complexities of language learning processes and high demanding of sophisticated teaching skills.Since internet technology′s breakout and the web-based education expanding in the past decade, personalized flipped classroom has drawn considerable attention in the education field and became a hop-spot in teaching practice system.In the present study, the concepts of flipped classroom and basic characteristics of Specialty English of Medical Laboratory were elaborated, as well as the reconstructing teaching processes, exploring the concrete plan for teachers and students in undergraduate program.

Objective To study the effective composition of Aster ageratoides Turcz for relieving asthma and its toxicity . Methods Seventy‐two qualified male guinea pigs ,body mass(300 ± 20)g ,were randomly divided into the control group ,aminophyl‐line group(0 .047 g/kg) and different ratio group of total saponins and total flavonoids (8∶1 ,4∶1 ,2∶1 ,1∶1 ,1∶2 ,1∶4 ,1∶8) . Every group received at dose of 0 .38 g/kg once a day for 3 days by intragastric administration .The effect of relieving asthma was taken as the indicators for the optimization of compositions ,which was detected by observing the latent period of asthma induced by acetylcholine‐histamine in guinea rats .The relaxation percentage of smooth muscle retracted by acetylcholine was detected by Pow‐erlab biological signal collecting system when aminophylline(1 .25 mg/mL) and different matching drugs(0 .02 g/mL) were added in Krebs′solution .The acute toxicities of total saponins ,total flavonoids and mixture of total saponins with total flavonoids (ratio of 1∶2) were detected by classical acute toxicity test of mice .Results Compared with the control group ,aminophylline group ,each group latent period of inducing asthma significantly or very significantly prolonged (P<0 .05) ,among them ,1∶1 ,1∶2 ,1∶4 group and other matching group were significantly different(P<0 .05) ,but 1∶2 group cited the longest incubation period .Aminophylline group and the ratio could significantly relaxe guinea pig tracheal smooth muscle retracted by acetylcholine .Aminophylline group di‐astolic percentage was the largest(24 .12 ± 1 .20)% ,all the groups were less than the percentage of diastolic aminophylline group (P<0 .05) ,but in 1∶2 group with the closest .Aster ageratoides Turcz ,tatarian aster total saponins ,total flavonoids and the ratio of 1∶2 to mice maximum tolerance was respectively 300 ,345 ,325 g/kg .Conclusion For the same total dosage ,the relieving asth‐ma effects of proportions of 1∶2 Aster ageratoides Turcz were obvious .There are no abnormal changes in the acute toxicity trila with total flavonoids ,total saponins ,as well as the ratio of 1∶2 ,safety is relatively good .

Objective:To evaluate the performance for the Sysmex XN20 A1 automation blood cell analyzer.Methods: The precision, contaminative rate, linear range, blank, accuracy and various sample models were verified, and low values of blood platelet were compared with the methods of microscopy and dye.Results:The contaminative rate was lower than 0.4%. The linear arrange and precision were well for the analyzer. The values of RBC, HGB and PLT were within the range of 1±0.05 and the correlation coefficients were higher than 0.975. The bias of average and constant values by the accuracy verification samples test met the demands of accuracy. And the relative differences of various sample models meet the requirements of the comparability. The variable coefficient of low values of PLT was lower than 4% by the dye method.Conclusion: The Sysmex XN20 A1 automation blood cell analyzer has the characteristics of perfect precision, accuracy, low contaminative rate, broad linear arrange and good repeatability for the low level PLT. It can be applied in clinical laboratory.