To retrospectively analyze the safety and efficacy of low dose subcutaneous decitabine regimen in patients with acute myeloid leukemia (AML) and intermediate-or higer-risk myelodysplastic syndrome (MDS).Of 6 AML cases,2 achieved complete remission (CR),2 with partial remission(PR),1 with stable disease(SD),1 with progressive disease(PD).As to the 8 MDS patients,one achieved CR and 6 with hematologic improvement (HI),1 case SD.Low dose subcutaneous decitabine regimen could be an alternative choice of older AML or MDS patients.

Objective To evaluate right ventricular (RV)systolic function in type-2 diabetes mellitus (T2DM)patients.Methods Fifty T2DM patients and fifty normal controls were included in the study and underwent echocardiographic examinations.The following parameters were measured:1 ) Right heart dimensions,pulmonary artery (PA)diameter,pulmonary acceleration time (AT)and PA systolic pressure (PASP);2)RV systolic function:RV fractional area change (RVFAC),tissue Doppler-derived tricuspid lateral annular systolic velocity (S'),tricuspid annular plane systolic excursion (TAPSE),longitudinal strain of six RV segments by 2-dimensional speckle tracking imaging (2D-STI);3 )RV diastolic function:E,A ratio of the tricuspid inflow spectrum (E/A),E,E'(peak early diastolic velocity of the tricuspid annulus) ratio (E/E');4)RV Tei index.Results Statistic analysis showed that T2DM patients had thicker RV walls,wider PAs and shorter AT than the control group (P =0.000,0.001 and 0.000),while their right heart chamber sizes and PASP remained unchanged.Among systolic parameters,absolute values of RV longitudinal strain at the lateral wall-mid (lat-m),septum-mid (sep-m)and septum-basal (sep-b)segments were significantly lower in the diabetic group than the control group (P =0.001 ,0.000 and 0.005),whereas strain of the other three RV segments and RVFAC,TAPSE.S'were not significantly different.Moreover, E/A,E/E'and Tei index were all significantly different between the two groups (P = 0.000,0.000 and 0.006),indicating declined diastolic and general function of RV in the T2DM group.Conclusions RV myocardial strain by 2D-STI is more sensitive in detecting RV systolic dysfunction than TAPSE,S' and RVFAC.Among the six segments of RV walls,lat-m,sep-m and sep-b are better locations for 2D-STI than the other three.

Objective To evaluate the clinical value of ultrasonography in the diagnosis of hermaphroditism.Methods Ultrasonographic appearances of 45 cases with hermaphroditism were reviewed retrospectively,and the results were compared with clinical data.Results All cases were confirmed pathologically.5 cases showed true hermaphroditism (11.1％),14 cases showed male pseudohermaphroditism (31.1 ％),24 cases showed female pseudohermaphroditism (53.3 ％),2 cases showed gonadal dysgenesis(4.4％).Compared with pathological results in the ultrasound examination,4 cases showed true hermaphroditism,the coincidence rate was 80％.11 cases showed male pseudohermaphroditism,the coincidence rate was 78.6％.20 cases showed female pseudohermaphroditism,the coincidence rate was 83.3％.1 cases showed gonadal dysgenesis,the coincidence rate was 50.0％.Conclusions Ultrasonography can not only evaluate internal reproductive organs in the patients,but also estimate the site,size,morphology and structure,which provides important imaging evidence for the clinical diagnosis and treatment.

Objective:In this paper, based on the 4D dose distribution of the treatment plan, the effects of respiratory movement on the dose distribution of three-dimensional conformal radiation therapy (3DCRT) and sliding window intensity-modulated radiation therapy (SW-IMRT) techniques were analyzed, and the dose errors caused by respiratory movement based on the 4D dose distribution were evaluated.Methods:In this study, the dynamic thoracic phantom (CIRS-008A) was used to simulate the patient with a 3 cm spherical insert as the tumor. Four motion patterns were simulated with cos 4( x) and sin ( x) wave forms of 10 mm and 5 mm amplitudes. The 4DCT scans with the phantom were performed in different breathing modes, and the maximum intensity projection (MIP), average intensity projection (AIP) and 10 separate 4DCT phase images were transferred to the Eclipse treatment planning system. The targets were contoured on MIP, with corresponding 3DCRT and SW-IMRT plans designed and dose calculated on AIP. By copying the plan designed on the AIP to each phase image of the 4DCT set, the MATLAB software package was employed to register and superimpose all the phase-specific doses onto one of the reference phase to create a 4D-accumulated dose distribution. Both films (EBT2) and optically stimulated luminescence (OSLD) detectors were inserted in and around the target area of the phantom to measure the delivered doses. The calculated 4D-accumulated doses were compared to the measured doses and their differences were evaluated using Gamma analysis. Results:Under different respiration modes, the average Gamma index (3%/3 mm) passing rates between the 4D-accumulated doses and EBT2-measured doses for 3DCRT and SW-IMRT plans were (98.8±0.78)% and (96.4±1.89)%, respectively. The absolute measurements of OSLDs both inside and outside of the target area well matched the 4D-accumulated doses.Conclusions:4DCT can be effectively applied to evaluate the treatment plan dose distribution through 4D dose accumulation, which can potentially avoid cold spots and target under-coverage. Under different respiration modes, both 3DCRT and SW-IMRT plans provide dose measurements consistent with those predicted by the 4D-accumulated dose of treatment plan.

Objective To study the clinical char acteristics and outcome of two lymphoma patients mimicking Beh?et's disease. Methods Lymphoma was diagnosed in two patients mimicking Beh?et's disease referred to our Department in 2015. A search on published similar cases in Chinese database and the Pubmed was also performed and then analyzed. Results Eight patients were indentified in this pooled analysis, six of which were non-Hodgkin lymphoma (NHL). All of the eight cases presented with cutaneous lesion, seven cases with fever, seven cases with oral ulceration and six cases with orogenital ulceration, respectively. Ocular involvement was present in four of the eight cases, two were with a positive pathergy test. Among feverish patients, six were moderate or high fever, four were high fever, one was low-grade fever. Neutropenia was found in four patients, and lymphocytoponia in four of five patients with detailed data. All patients fulfilled the 2014 International Criteria for Beh?et's Disease (ICBD) with an average score of (5.8 ±1.5), ranging from 4 to 8. Survival period ranged from one month to 36 months, with an average of 8 months. Conclusion For patients diagnosed as Beh?et's disease are finally diagnosed as lymphoma. For patients with Beh?et's disease present-ation but also present with mediate to high fever, atypical deepseated ulcer, neutropenia or lymphocytoponia, malignancy especially lymphoma should be investigated.

Objective To investigate the early warning effect of glomerular filtration rate on cerebralmicrobleeds (CMBs) in patients with lacunar infarction. Methods A retrospective study was performed. One hundred and sixty-eight patients with lacunar infarction from January 2015 to January 2018 were selected in Tai′an Central Hospital. The CMBs group and non-CMBs group were classified according to susceptibility weighted imaging. The estimated glomerular filtration rate (eGFR) was obtained. According to the MDRD formula, the indicators of renal dysfunction in patients with different degrees of cerebral microbleeds were compared, and the related risk factors of cerebral microbleeds were analyzed by single factor and multivariate analysis. Results The blood high sensitive C-reactive protein (hs-CRP) was significantly higher in CMBs group than that in non-CMBs group: (4.29 ± 3.86) mg/L vs. (2.58 ± 2.74) mg/L, P < 0.01. The proportion of patients with elevated eGFR in CMBs group was significantly higher than that in non-CMBs group: 40.7%(33/81) vs. 11.4%(10/88), P<0.01. There were significant differences in the proportion of hypertension history [83.3% (50/60) vs. 52.4% (11/21), χ2＝6.947,P＝0.008], serum creatinine(SCr) value[(113.75 ± 71.23) μmol/L vs. (75.38 ± 38.36) μmol/L, t＝－2.346,P＝0.021] and eGFR value [(91.58 ± 31.87) ml/(min·1.73 m2) vs. (109.95 ± 29.47) ml/(min·1.73 m2),t＝2.316,P＝0.023] between CMBs groups with different distribution (P < 0.05). Multivariate Logistic regression analysis showed that the history of hypertension ( OR＝5.408; 95% CI 1.518-19.267, P＝0.008) was the risk factor of CMBs in deep/ subtentorial group.The urea nitrogen (BUN)value increased (χ2＝28.150, P < 0.01), SCr value (χ2＝47.610, P < 0.01) increased, and eGFR value (χ2＝39.067,P<0.01) decreased with the severity of CMBs, and the differences were statistically significant. The proportion of CMBs in patients with eGFR decreased group(76.7% , 33/43) was significantly higher than that in normal eGFR group (38.1%, 48/126), and the difference was statistically significant (χ2＝19.188, P < 0.01). Logistic regression analysis of multiple factors affecting cerebral microbleeds showed that history of hypertension ( OR＝3.135; 95% CI 1.343-7.321, P＝0.008), elevated hs-CRP( OR＝1.233; 95% CI 1.098-1.385, P < 0.01), eGFR decreased ( OR＝1.025; 95% CI 1.002-1.048, P＝0.033) were risk factors for cerebral microbleeds. The area under the ROC curve of eGRF was 0.694 (P＝0.042). Conclusions A history of hypertension is a risk factor for deep/infratentorial CMBs. Decreased glomerular filtration rate is an independent risk factor for cerebral microbleeds. Therefore, reminding clinicians to actively diagnose and treat patients with glomerular filtration rate decline has important clinical significance for preventing the occurrence and development of cerebral microbleeds.

OBJECTIVE: To explore the pathogenesis of two siblings (including a fetus) from a pedigree affected with Joubert syndrome. METHODS: Peripheral blood samples of the proband and his parents as well as amniotic fluid and abortion tissues of the fetus were collected. Part of the samples were used for the extraction of DNA, and whole exome sequencing (WES) was carried out to screen potential variants in the proband and his parents. Suspected variants were subjected to bioinformatics analysis with consideration of the clinical phenotype, and were verified by Sanger sequencing of the proband, fetus and their parents.The remainders were used for the extraction of RNA, and the mechanism of splicing variant was validated by reverse transcription-PCR (RT-PCR). RESULTS: WES showed that both patients have carried c.175C>T (p.R59X) and c.553+1G>A compound heterozygous variants of the TMEM237 gene. Among these, c.175C>T was a nonsense mutation inherited from the asymptomatic mother, while c.553+1G>A was an alternative splicing mutation inherited from the asymptomatic father. RT-PCR showed that this variant has resulted in aberrant splicing by exon skipping. CONCLUSION The compound heterozygous variants of the TMEM237 gene probably underlay the etiology of Joubert syndrome in this pedigree. Above finding has enriched the phenotype and variant spectrum of the TMEM237 gene, and facilitated genetic counseling and prenatal diagnosis for the family.
Abnormalities, Multiple/genetics* ; Cerebellum/abnormalities* ; Eye Abnormalities ; Female ; Genotype ; Humans ; Kidney Diseases, Cystic ; Mutation ; Pedigree ; Phenotype ; Pregnancy ; Retina/abnormalities*

Objective: To analyze the clinical features of acute myeloid leukemia patients with Fms-like tyrosine kinase 3 internal tandem duplication (FLT3-ITD) mutation and the therapeutic effect of sorafenib in combination with chemotherapy as first-line therapy for these patients. Methods: Clinical features and therapeutic effect were retrospectively analyzed in 53 AML patients with FLT3-ITD mutation diagnosed in Henan Cancer Hospital from January 2013 to August 2016. The biological characteristics and clinical efficacy of chemotherapy in combination with or without Sorafeinb were analyzed. Results: FLT3-ITD mutation was identified in 53 AML patients, 22 cases (41.5%) were M₅ subtype. The median of the peripheral WBC was 61.00 (0.98-920.00) ×10⁹/L, and there were 50 (94.3%) patients with WBC>10×10⁹/L. The median of blast cell in bone marrow was 0.730 (0.234-0.966) . The total remission rate of all these 53 patients was 56.6% (30/53) . The complete remission (CR) rates in patients treated with chemotherapy in combination with sorafenib and patients with chemotherapy alone were 86.4% (19/22) and 35.5% (11/31) , respectively. The 1-year overall survival rates of the two groups were 78.3%% and 50.0% (P=0.041) , and 1-year progression free survival rates were 75.9% and 42.4% (P=0.044) , respectively. Conclusion AML patients with FLT3-ITD mutation have the characteristics of high peripheral WBC, high blast cells in bone marrow and accompanying with M₅ subtype. Sorafeinb combined with chemotherapy can significantly improve CR rate and short term survival.

Objective: To investigate the effects of hydrophilic treatment on the surface morphology and surface properties of pure titanium and titanium-zirconium alloy implants, and to provide reference for the studies of implant surface modification. Methods: The pure titanium group, the hydrophilic pure titanium group, the titanium zirconium alloy group and the hydrophilic titanium-zirconium alloy group were prepared by sandblasting and acid-etching or hydrophilic sandblasting and acid-etching, (11 specimens in each group). The surface morphology and surface properties of four types of titanium specimens were analyzed by surface contact angle meter, scanning electron microscope (SEM), optical profilometer, atomic force microscope (AFM) and Raman spectrometer. Results: The surface contact angles of hydrophilic pure titanium and hydrophilic titanium-zirconium alloy were 1.6°±0.3° and 1.5°±0.2°, and the surface contact angles of pure titanium and titanium-zirconium alloy were 101.4°±4.6° and 96.2°±3.0°, respectively. SEM showed that the nano-protrusions on the surface of pure titanium and titanium-zirconium alloys were less or even absent, while the nano-protrusions on the surface of hydrophilic pure titanium and hydrophilic titanium-zirconium alloys were relatively more; the nano-protrusions on the surface of hydrophilic pure titanium surface were small and dense relatively, but the nano-protrusions of the hydrophilic titanium-zirconium alloy had large diameters and were dispersed relatively. The optical profiler and AFM showed that the surface roughness of hydrophilic pure titanium and hydrophilic titanium-zirconium alloy was significantly higher than that of pure titanium and titanium-zirconium alloy (P<0.05). Raman spectroscopy showed that only the amorphous TiO₂ was present on the surface of the pure titanium group, while the rutile TiO₂ characteristic peak was observed in the other three groups, but the lateral inhomogeneity was observed. After Raman shift 610 cm^-1, the Raman spectra of four groups were similar. Conclusions Hydrophilic sandblasting and acid-etching treatment can improve the surface hydrophilicity and surface roughness of pure titanium and titanium zirconium alloy, and improve the surface properties of pure titanium and titanium zirconium alloy implants.

Objective: To evaluate the value of non-invasive prenatal testing (NIPT) in pregnancies with anomaly in prenatal screening. Methods: This was a retrospective study of 2 837 singleton pregnancies who performed NIPT indicated by isolated anomaly in prenatal screening at Guangdong Women and Children Hospital between November 2014 and August 2016. All pregnancies were divided into 3 groups by single indication: advanced maternal age ( AMA, ≥35), abnormal multiples of the median (MoM) in standard screening, increased nuchal translucency thickness (NT, 2.5-3.0 mm). High risk results were verified by prenatal diagnosis. Low risk cases were followed by a 22-26 week anatomical ultrasound examination. All of the cases were followed up and the performance of NIPT for every single indication was evaluated. Results: There were total of 2 837 pregnant women who underwent NIPT. Twenty-five of 2 448 pregnancies indicated by AMA had high risk results, among which 17 were confirmed by invasive genetic testing, except 1 case rejecting prenatal diagnosis. In 351 pregnant women with abnormal MoM, NIPT found 3 cases of sex chromosome aneuploidies (SCA) and 2 of them were validated by invasive prenatal diagnosis. Increased NT group included 38 cases, NIPT found 1 case of trisomy 21 which was consistent with karyotype analysis. For common aneuploidies and SCA, the performance of NIPT in the pregnant women who indicated by AMA, abnormal MoM and increased NT were as the follows: the sensitivity were 17/17, 2/2 and 1/1 respectively, the specificity were 99.7% (2 423/2 431), 99.7% (348/349) and 100%(37/37), the positive predictive value were 68% (17/25), 2/3 and 1/1, the negative predictive value were 100% (2 423/2 423), 100% (348/348) and 100% (38/38), respectively. By follow-up survey, a total of 8 cases of abnormal fetus were recorded in NIPT low-risk women, including 5 cases of termination of pregnancy due to abnormal ultrasound findings, 2 cases of abortion as a result of severe obstetric complications and 1 case of stillbirth. Conclusions To the pregnant women who indicated by advanced maternal age, abnormal MoM and increased NT (2.5-3.0 mm), NIPT had satisfactory performance for common aneuploidies, and also had potential value for SCA, resulting in a significant reduction in diagnostic procedures. However, for NIPT low-risk pregnancies, routine antenatal examination and anatomical ultrasound detection would be highly necessary to avoid missing abnormal fetuses.(Chin J Lab Med, 2018, 41: 509-513)