Familial aggregation myelodysplastic syndromes/acute myeloid leukemia: report of 3 pedigrees and review of literature / 白血病·淋巴瘤

Objective:To investigate the clinical characteristics, gene mutation, treatment and prognosis of familial aggregation myelodysplastic syndromes/acute myeloid leukemia (MDS/AML).Methods:The 3 familial aggregation MDS/AML admitted to Shanghai Yangpu District Hospital from August 2012 to March 2019 were collected. The bone marrow examination, gene mutation detection, therapeutic effect and prognosis of the patients were retrospectively analyzed, and the relevant literature was reviewed.Results:In pedigree 1, the survival time of 2 AML patients was 8 months and 1 month, respectively. In pedigree 2, the transformation time of 2 patients diagnosed MDS to AML/high-risk MDS was 4 and 3 months, the survival time was 5 and 8 months, respectively. TP53 and RUNX1 mutations were detected in the older brother. In pedigree 3, the survival time of the AML patient was 13 months, and the MDS patient was stable.Conclusions:Familial aggregation MDS/AML has rapid progression and short survival time, and its diagnosis needs to be combined with family history, cytogenetics, and molecular biology.

Study of iron overload assessment by T2* magnetic resonance imaging in patients with myelodysplastic syndromes / 中华血液学杂志

Objectives@#To analyze the cardiac T2* value, liver iron concentration (LIC) , and related laboratory parameters in myelodysplastic syndrome (MDS) with iron overload and evaluate the changes of organ functions after iron chelation therapy. To explore the value of magnetic resonance imaging (MRI) T2* in making early diagnosis and assessing organs iron overload.@*Methods@#Retrospective investigation was used to observe the cardiac T2* value, LIC, iron metabolism parameters and related laboratory parameters of 85 MDS patients from Nov 2014 to Jan 2018. Among them, 7 MDS patients with Low/Int-1 have received iron chelation therapy for 6 months during two MRI examinations. The above parameters were collected before and after iron chelation therapy for comparison.@*Results@#Correlations were found between heart T2* value and age (rs=-0.290, P=0.007) and left ventricular ejection fraction (LVEF) (rs=0.265, P=0.009) . There was a significant negative correlation between heart T2* value and blood transfusion units (rs=-0.701, P<0.001) . There was a significant positive correlation between LIC and serum ferritin (SF) (rs=0.577, P<0.001) . There was also a correlation between LIC and ALT (rs=0.268, P=0.014) and blood transfusion units (rs=0.244, P=0.034) . There was no correlation between heart T2* and pro-BNP, SF (all P>0.05) , and no correlation between LIC and age (P>0.05) . The increase of heart T2* between the normal and abnormal groups was statistically significant (P=0.005) , but the iron overload ratio of the heart T2*<20 ms was not significant between the two groups. There was statistical significance in the proportion of severe liver iron overload (LIC>15 mg/g DW) (P=0.045) . After iron chelation therapy, the values of SF, transferrin saturation, ALT, AST, pro-BNP and LIC of 7 patients were decreased compared with values before iron chelation therapy, and the peripheral blood cell level was increased. However, the changes of LVEF and T2* values after iron chelation were not obvious.@*Conclusion@#MRI T2* may be a predictor of iron overload in patients with MDS in early stage, and may be more valuable compare with LVEF, SF and other laboratory indicators. The safety and repeatability of MRI cardiac T2* examination are recognized, and it can be used as an ideal detection for patients with iron overload.

The value of third-generation dual-source CT low-pressure voltage combined with ADMIRE in children′s nasopharynx examination / 实用医学杂志

Objective Exploration of the application value of the third-generation dual source CT low tube voltage (70 kVp) scanning combined with advanced modeling iterative reconstruction (ADMIRE) technique in children with adenoid examination. Methods CT scans were performed in patients with clinically suspected adenoid hypertrophy. They were divided into two groups according to the time of treatment. Group A (40 cases) : low tube voltage (70 kVp) scan, reference tube current 163 mAs, reconstruction with ADMIER, Intensity 3; Group B (40 cases) : conventional 100 kVp, reference tube current 163 mAs, conventional (filtered back-projection, FBP) reconstruction;rest of the scanning parameters remained unchanged. The subjective scores and objective quality indicators of the images (CT value, image noise, signal noise ratio (SNR) , contrast noise ratio (CNR)) and radiation dose of the two groups were compared. Results The difference of radiation dose between group A and group B was statistically significant (P < 0.05). The radiation dose of group A was lower than that of group B by 77.58％.Compared with group B, the image noise of group A increased by 0.002％; the SNR decreased by 0.01％; CNR increased by 0.03％; there was no significant difference in objective quality evaluation index and subjective score between two groups in the image quality (P> 0.05). Conclusion The third-generation dual-source CT low-tube voltage (70 kVp) combined with ADMIRE reconstruction technique for children with adenoid scan can effectively reduce the radiation dose while ensuring image quality.

Familial aggregation myelodysplastic syndromes/acute myeloid leukemia: report of one pedigree and review of literature / 白血病·淋巴瘤

Objective To investigate the diagnosis, clinical characteristics, gene mutation and treatment of familial aggregation myelodysplastic syndromes/acute myeloid leukemia (MDS/AML). Methods Bone marrow morphocytology, immunophenotype, cytogenetics, gene mutation, therapeutic effects and prognosis of the brothers in the line of MDS/AML patients were analyzed, and the related literature was reviewed. Results The prover developed AML after the diagnosis of MDS-refractory anemia with excess blasts-Ⅰ (MDS-RAEB Ⅰ) for 4 months. With elder brother developed MDS RAEB-Ⅱ after the diagnosis of MDS-refractory cytopenia with multilineage dysplasia for 3 months. The survival period was 5 and 8 months. Conclusion Familial aggregation MDS/AML is rare with poor prognosis, and its diagnosis needs to be combined with family history, cytogenetics and molecular biology.

Comparison of Heart Rate Variability Biofeedback Intervention for Different Types of Insomnia Disorder / 中国康复理论与实践

Objective To investigate the effect of heart rate variability (HRV) biofeedback training on patients with three types of insom-nia disorder. Methods From June, 2016 to March, 2017, 17 patients in simple insomnia group, 19 patients in insomnia with anxiety group, and 19 patients in insomnia with depression group were included. All the patients received HRV biofeedback training and same medication (zolpidem tartrate, 10 mg every night). They were assessed with Pittsburgh Sleep Quality Index (PSQI), Symptom Checklist 90 (SCL-90), Hamilton Anxiety Scale (HAMA) and Hamilton Depression Scale (HAMD), and HRV parameters were tracked before and after training. Re-sults After training, the scores of PSQI, SCL-90, HAMA , HAMD and the ratio of low frequency (LF) and high frequency (HF) (LF/HF) de-creased in all groups (t>1.446, P0.05). Conclusion HRV biofeedback training could improve the symptoms of patients with three types of insomnia disorder, especially for those with anxiety or depression.

Application of Z-scores in the diagnosis of fetal aortic stenosis / 中华超声影像学杂志

Objective To explore the difference in Z-score reference range for aorta measurements, and pulmonary artery(PA)/aortic(AO)valve annular diameter ratio(PA/AO ratio)between normal and aortic stenosis(AS)fetuses and to evaluate the diagnostic value of Z-score of aorta in fetuses with AS. Methods A retrospective cross-sectional study of fetal color Doppler echocardiograms were undertook from 300 singleton normal fetuses with gestational age ranged from 16 to 40 weeks.Standardized fetal echocardiographic measurements included AO valve annular diameter and PA valve annular diameter at end-systole,and PA/AO ratio were obtained.With statistical analysis,best model was established for predicting AO and PA using biparietal diameter (BPD)and femoral length (FL)as independent variables.The correlations between standard deviation (SD)and two independent variables (BPD,FL)were analyzed,and the AO Z-score and PA Z-score of normal fetuses were calculated.One hundred and six singleton fetuses with AS were studied whose gestational age ranged from 1 5 to 40 weeks.The AO Z-score and PA Z-score of AS fetuses obtained by using above regression equation and PA/AO ratio were subsequently calculated.The AO and PA Z-scores and PA/AO ratio between normal fetuses and AS fetuses were compared.And the detection rate of AS according to AO Z-score,PA/AO ratio and AO percentile range were assessed.Results Compared with normal fetuses,the Z-score of AO and the PA/AO ratio in AS fetuses were statistically different (P 0.05).AO Z-score in 96.2% of AS fetuses were found < -3,PA/AO ratio in 95.3% of AS fetuses were found outside 95% CI.The method using AO Z-score had the highest detection rate of AS,the positive predictive value was up to 89.5%,the negative predictive value was up to 98.6%,the sensitivity,specificity and Youden index were 96.2%,96%,and 0.9223,respectively.PA/AO ratio had good but slightly lower diagnostic accuracy than AO Z-score,while AO percentile range performed poor.Conclusions Fetuses whose AO Z-score are outside ±3 and the PA/AO ratio is greater than 1 .4 at the same time are more likely to suffured from AS.Quantification of AO Z-score has important clinical value in the diagnosis of AS,and is more accurate than the percentile range in quantitative assessment of congenital heart growth and development of the fetal pathology of AS.

Effect of Bilateral Movement Training on Upper Extremity Dysfunction after Stroke / 中国康复理论与实践

Objective To observe the effect of bilateral movement training on upper extremities dysfunction in stroke patients in conva-lescent phase. Methods 52 patients with hemiplegia were randomly divided into treatment group (n=26) and control group (n=26). The treat-ment group accepted bilateral upper extremities movement training, and the control group accepted routine neurodevelopment training main-ly with affected upper extremities, for 6 weeks. They were assessed with Fugl-Meyer Assessment upper-extremity section (FMA-UE) and modified Barthel Index (MBI) before and after treatment. Results The FMA-UE and MBI scores improved in both groups after treatment (P<0.01), and improved more in the treatment group than in the control group (P<0.001). Conclusion Bilateral movement training may im-prove upper extremity function and activities of daily living more effectively for stroke patients in convalescent phase.

Z-score analysis of mitral-tricuspid valve distance in normal fetuses with fetal echocardiography / 中华超声影像学杂志

Objective To develop Z-score reference ranges for mitral valve-tricuspid valve distance (MTD) in normal fetuses from the measurements of femur length (FL),biparietal diameter (BPD) or gestational age (GA) using fetal echocardiography.Methods A retrospective cross-sectional study of 1216singleton normal fetuses was performed.The gestation age ranged from 20 to 40 weeks.Non-cardiac fetal biometric parameters included FL and BPD and GA based on menstrual age.MTD was measured in a standard apical four-chamber view.Normal Z-score ranges were developed for MTD using GA,BPD and FL as independent variables.These were accomplished by using first standard regression analysis and then weighted regression of absolute residual values for each parameter in order to adjust for inconstant variance.Results Linear regression model was the best description of the data in each case and correlations between MTD and independent variables (FL,BPD,GA) were excellent.The linear regression equations between MTD and FL,BPD,GA were:Y =0.04629 × FL-0.02868 (r =0.827) ; Y =0.04018 × BPD-0.08293(r =0.767) ; Y =0.0098 × GA-0.07075 (r =0.721),respectively.Heteroscedasticity of standard deviation(SD) with increasing independent variables also could be modeled with a simple linear regression.Linear regression equations between SD of MTD and FL,BPD,GA were:Y =0.0149 × FL-0.0095 (r =0.9947),Y =0.0126 × BPD-0.02793 (r =0.9931),Y =0.00305 × GA-0.021 (r =0.991),respectively.According to these equations,MTD Z-score =(the actual measurement of MTD-predicted MTD)/prediction SD.Conclusions Normal reference ranges and Z-scores for MTD have been provided.These normative data may be useful tools for assessment of fetal MTD,especially has potential applications in Ebstein anomaly or other malformations involved atrioventricular valves.

Quantitative study of left ventricular function in the normal fetuses by mitral annular displacement / 中华超声影像学杂志

Objective To measure mitral annual displacement (MAD) by M-mode echocardiography in normal second and third trimester fetuses,and assess relationships between MAD and gestational age and routine echocardiographic parameters for evaluation of left ventricular function.Methods One hundred fifty-five normal fetuses from 19 to 38 weeks of gestation were recruited in the study.MVD and tricuspid annual displacement (TAD) were measured.Early diastolic inflow velocities (E) of the atrioventricular valves were assessed by pulsed-wave Doppler(PW),and early diastolic velocities (Em) of the mitral annular were estimated by pulsed-wave tissue Doppler imaging (TDI).The ratio of E/Em was calculated.Results In normal fetuses,the MAD was (7.05 ± 1.17) mm.There was significant positive correlation between the fetal MAD and advancing gestational age ( r =0.82,P ＜0.01 ),and between MAD and E,A,Em,Am or Sm ( r =0.25,0.24,0.32,0.29 and 0.40 respectively,P ＜0.01).There was no correlation between fetal MAD and E/A,E/Em,LVEF or LVFS.The left MAD was significantly lower than the right TAD ( P ＜0.01 ).Conclusions MAD of fetuses from 19 to 38 weeks of gestation can be quantitatively measured by Mmode echocardiogram.The measurement of MAD provides a reliable quantitative standard to estimate long axis ventricular function of fetuses,which may be clinically useful in prenatal detecting early cardiac failure.

Culture of transgenic Glycyrrhiza uralensis hairy root with licorice squalene synthase (SQS) gene / 中国中药杂志

A squalene synthase gene cloned (GuSQS1, accession number in GenBank database: AM182329) from Glycyrrhiza uralensis was transferred into G. uralensis via Agrobacterium rhizogenes A4 for investigating biosynthesis pathway and enhancing synthesis of glycyrrhizic acid (GA). Hypocotyl explants from G. uralensis were infected with A. rhizogenes A4 containing GuSQS1 gene to induce the hairy roots. The hairy root lines established were selected in medium containing 0.8 mg x L(-1) phosphinothricin (PPT) and analyzed by PCR and southern blotting. The transgenic hairy roots were cultured in liquid MS medium. GA contents in transgenic hairy roots were detected by HPLC. Results showed that maximal GA content in transgenic hairy root lines was 3.6 times as high as in wild type hairy roots.