Résumé
Objective@#To evaluate the response of neoadjuvant chemotherapy on osteosarcoma by semi-quantitative parameters of dynamic contrast-enhancement magnetic resonance imaging (DCE-MRI).@*Methods@#Retrospectively analysis 25 cases of osteosarcoma confirmed by pathology.All cases received DCE-MRI scan before and after 4 cycles of neoadjuvant chemotherapy.The following semi-quantitative parameters were calculated by post-processing software: early dynamic enhancement wash-in slope (Slope), maximum signal intensity (SImax), time to peak (TTP), signal enhanced extent (SEE), peak percent enhancement (PPE), wash out rate (WOR), enhancement rate (R). All cases were divided into good response group (tumor necrosis rate ≥90%, n=12) and non-response group (tumor necrosis rate <90%, n=13) according to the Huvos grading method. Semi-quantitative parameters of DCE-MRI before and after neoadjuvant chemotherapy between good response group and non-response group were compared by Mann-whitney U test. Receiver operating characteristic curve (ROC) analysis was performed to evaluate the efficacy of different good response group and non-response group after neoadjuvant chemotherapy (NAC).@*Results@#Slope, SImax, TTP, SEE, PPE, WOR, R, TTP, WOR before and after NAC in good response group were significant different (P<0. 05), but only SImax, SEE in non-response group. TTP, R were significant different between the above two groups before NAC, and Slope, SImax, TTP, SEE, WOR, R were significant different after NAC (P<0.05). ROC was used to predict the diagnostic efficiency of various parameters for tumor necrosis rate after osteosarcoma NAC. It was found that the sensitivity and specificity of Slope, TTP and R parameters for predicting the response of osteosarcoma after chemotherapy were 83.3% and 92.3%, 91.7% and 69.2%, 84.6% and 75.0% respectively. The area under the curve (AUC) were 0.872 (95% CI: 0.716 to 1.027), 0.846 (95% CI: 0.685 to 1.007), 0.833 (95% CI: 0.662 to 1.004), the cut-off value were 0.032, 175 s, 5.441, Youden index were 0.756, 0.609, 0.596, respectively.@*Conclusions@#Slope, TTP, R were the most valuable semi-quantitative parameter of DCE-MRI to predict the response of NAC in osteosarcoma.
Résumé
Objective@#To determine imaging features that may help predict the presence of placenta accreta, placenta increta or placenta percreta on prenatal MRI scanning in order to identify the most diagnostic findings.@*Methods@#The prenatal MRI scan data of placenta accreta, placenta increta or placenta percreta (placenta implantation group, n=15) and normal placenta(placenta normal group, n=15) diagnosed and treated by surgical pathology from January 2010 to December 2017 in the People's Hospital of Huadu District were retrospectively analyzed.Two expert MRI doctors were blinded to the patients' true diagnosis and were asked to score a total of 10 MRI features of the placenta and adjacent structures.The interrater reliability was assessed using kappa statistics.The features with a moderate kappa statistic or better(kappa>0.40 ) were then compared with the true diagnosis for each observer.@*Results@#Eight of the scored features had an interobserver reliability of kappa>0.40: placenta previa(κ=0.89); abnormal uterine bulging(κ=0.57); intraplacental hemorrhage(κ=0.45); the presence of dark intraplacental bands on T2W imaging(κ=0.76); flow-empty blood vessels in placenta(κ=0.67); border on placenta and uterus blurring(κ=0.63); heterogeneity of signal intensity on T2-weighted(T2W) imaging(κ=0.53); and continuity of myometrium was interrupted(κ=0.64). Using Fisher's two-sided exact test, there were statistically significant differences between the proportion of patients with placental invasion and those without placental invasion for three of the features: abnormal uterine bulging(P=0.015, P=0.011); heterogeneity of T2W imaging signal intensity(P=0.006, P=0.013); and presence of dark intraplacental bands on T2W imaging(P=0.032, P=0.010).@*Conclusion@#MRI can be a useful adjunct to ultrasound in diagnosing placenta accreta prenatally.Three features that are seen on MRI in patients with placental invasion appear to be useful for diagnosis: uterine bulging; heterogeneous signal intensity within the placenta; and the presence of dark intraplacental bands on T2W imaging.
Résumé
Objective@#To investigate prospectively molecular and clinical characteristics of infants with congenital hypothyroidism (CH) caused by DUOX2 mutations in Guangzhou.@*Methods@#A population-based cohort of 83 patients with CH were recruited based on newborn screening results among 108 899 newborns who were born in Guangzhou between April 1 and September 30 in 2015.Genetic analysis of DUOX2 hotspots(including 11 exons)by PCR-direct sequencing was performed in 52 patients with suspected thyroid dyshormonogenesis (SDH) according to thyroid ultrasound at diagnosis.All the patients were followed up for 3 years.The data of this cohort study(prevalence of CH, detection rate of DUOX2, clinical features) were compared with those of 96 patients with SDH in 2011-2012.@*Results@#(1) The incidence of CH in 2015 was 1∶1 312, and 73.5%(61/83 cases) of CH patients were classified as SDH.Compared with those founded in 2011-2012, the incidence of CH was increased (1∶1 312 vs.1∶2 779), and the difference was significant (P<0.001), while the frequency of SDH was not different significantly (73.5%vs.76.6%, P=0.593). (2)There were 27 cases(51.9%) with SDH detected DUOX2 hotspots variants, including 6 cases with biallelic variants, 21 cases with monoallelic variants, and 1 possible new pathogenic variant p. S1091F.The p. K530X was the most common mutation accounting for 51.5%(17/33 cases) detected allelic and involving in 16 cases (30.8%) with SDH.Novel p. S1091F variant was probably damaging variant.Both detected rate and spectrum of DUOX2 variant were not significantly different compared with those in 2011-2012 (all P>0.05). (3) There were no significant differences in the levels of thyrotropin (bsTSH), serum TSH (sTSH), free thyroxine (FT4) and thyroglobulin in neonates with dry blood spot at diagnosis between children with DUOX2 and without DUOX2 variants cases(all P>0.05). Among 27 cases, 24(88.9%) patients with DUOX2 mutation were transient CH, and 3 cases were permanent CH.@*Conclusions@#The incidence of CH was increased in last few years in Guangzhou.Most of them were SDH, and 51.9% of SDH cases had DUOX2 hotspots variants.Temporary CH is the main clinical outcome.The p. K530X was the most common mutation in this cohort population.
Résumé
Objective To determine imaging features that may help predict the presence of placenta accreta , placenta increta or placenta percreta on prenatal MRI scanning in order to identify the most diagnostic findings . Methods The prenatal MRI scan data of placenta accreta,placenta increta or placenta percreta (placenta implantation group,n=15) and normal placenta (placenta normal group,n=15) diagnosed and treated by surgical pathology from January 2010 to December 2017 in the Peopleˊs Hospital of Huadu District were retrospectively analyzed.Two expert MRI doctors were blinded to the patientsˊtrue diagnosis and were asked to score a total of 10 MRI features of the placenta and adjacent structures.The interrater reliability was assessed using kappa statistics.The features with a moderate kappa statistic or better ( kappa >0.40 ) were then compared with the true diagnosis for each observer. Results Eight of the scored features had an interobserver reliability of kappa >0.40:placenta previa (κ=0.89);abnormal uterine bulging(κ=0.57);intraplacental hemorrhage (κ=0.45);the presence of dark intraplacental bands on T2 W imaging( κ=0.76); flow -empty blood vessels in placenta ( κ=0.67); border on placenta and uterus blurring(κ=0.63);heterogeneity of signal intensity on T 2 -weighted( T2 W) imaging(κ=0.53);and continuity of myometrium was interrupted ( κ=0.64).Using Fisherˊs two -sided exact test, there were statistically significant differences between the proportion of patients with placental invasion and those without placental invasion for three of the features:abnormal uterine bulging ( P=0.015,P=0.011);heterogeneity of T2 W imaging signal intensity ( P=0.006,P=0.013);and presence of dark intraplacental bands on T 2 W imaging(P=0.032,P=0.010).Conclusion MRI can be a useful adjunct to ultrasound in diagnosing placenta accreta prenatally.Three features that are seen on MRI in patients with placental invasion appear to be useful for diagnosis : uterine bulging; heterogeneous signal intensity within the placenta;and the presence of dark intraplacental bands on T 2 W imaging.
Résumé
Objective To investigate prospectively molecular and clinical characteristics of infants with congenital hypothyroidism (CH) caused by DUOX2 mutations in Guangzhou.Methods A population-based cohort of 83patients with CH were recruited based on newborn screening results among 108 899 newborns who were born in Guangzhou between April 1 and September 30 in 2015.Genetic analysis of DUOX2 hotspots(including 11 exons) by PCR-direct sequencing was performed in 52 patients with suspected thyroid dyshormonogenesis (SDH) according to thyroid ultrasound at diagnosis.All the patients were followed up for 3 years.The data of this cohort study(prevalence of CH,detection rate of DUOX2,clinical features) were compared with those of 96 patients with SDH in 2011-2012.Results (1) The incidence of CH in 2015 was 1 ∶ 1 312,and 73.5% (61/83 cases) of CH patients were classified as SDH.Compared with those founded in 2011-2012,the incidence of CH was increased (1 ∶ 1 312 vs.1 ∶ 2 779),and the difference was significant (P < 0.001),while the frequency of SDH was not different significantly (73.5 % vs.76.6%,P =0.593).(2) There were 27 cases (51.9%) with SDH detected DUOX2 hotspots variants,including 6 cases with biallelic variants,21 cases with monoallelic variants,and 1 possible new pathogenic variant p.S1091F.The p.K530X was the most common mutation accounting for 51.5% (17/33 cases) detected allelic and involving in 16 cases (30.8%) with SDH.Novel p.S1091F variant was probably damaging variant.Both detected rate and spectrum of DUOX2 variant were not significantly different compared with those in 2011-2012 (all P > 0.05).(3) There were no significant differences in the levels of thyrotropin (bsTSH),serum TSH (sTSH),free thyroxine (FT4) and thyroglobulin in neonates with dry blood spot at diagnosis between children with DUOX2 and without DUOX2 variants cases (all P > 0.05).Among 27 cases,24 (88.9%) patients with DUOX2 mutation were transient CH,and 3 cases were permanent CH.Conclusions The incidence of CH was increased in last few years in Guangzhou.Most of them were SDH,and 51.9% of SDH cases had DUOX2 hotspots variants.Temporary CH is the main clinical outcome.The p.K530X was the most common mutation in this cohort population.
Résumé
Objective To evaluate the response of neoadjuvant chemotherapy on osteosarcoma by semi-quantitative parameters of dynamic contrast-enhancement magnetic resonance imaging (DCE-MRI).Methods Retrospectively analysis 25 cases of osteosarcoma confirmed by pathology.All cases received DCE-MRI scan before and after 4 cycles of neoadjuvant chemotherapy.The following semi-quantitative parameters were calculated by post-processing software:early dynamic enhancement wash-in slope (Slope),maximum signal intensity (SImax),time to peak (TTP),signal enhanced extent (SEE),peak percent enhancement (PPE),wash out rate (WOR),enhancement rate (R).All cases were divided into good response group (tumor necrosis rate ≥90%,n =12) and non-response group (tumor necrosis rate <90%,n =13) according to the Huvos grading method.Semi-quantitative parameters of DCE-MRI before and after neoadjuvant chemotherapy between good response group and non-response group were compared by Mannwhitney U test.Receiver operating characteristic curve (ROC) analysis was performed to evaluate the efficacy of different good response group and non-response group after neoadjuvant chemotherapy (NAC).Results Slope,SImax,TTP,SEE,PPE,WOR,R,TTP,WOR before and after NAC in good response group were significant different (P < 0.05),but only SImax,SEE in non-response group.TTP,R were significant different between the above two groups before NAC,and Slope,Simax,TTP,SEE,WOR,R were significant different after NAC (P < 0.05).ROC was used to predict the diagnostic efficiency of various parameters for tumor necrosis rate after osteosarcoma NAC.It was found that the sensitivity and specificity of Slope,TTP and R parameters for predicting the response of osteosarcoma after chemotherapy were 83.3% and92.3%,91.7% and 69.2%,84.6% and 75.0% respectively.The area under the curve (AUC)were 0.872 (95% CI:0.716 to 1.027),0.846 (95% CI:0.685 to 1.007),0.833 (95% CI:0.662 to 1.004),the cut-off value were 0.032,175 s,5.441,Youden index were 0.756,0.609,0.596,respectively.Conclusions Slope,TTP,R were the most valuable semi-quantitative parameter of DCE-MRI to predict the response of NAC in osteosarcoma.
Résumé
Objective@#To explore the TPO, DUOX2 and DUOXA2 genotypes and phenotypes of children with permanent congenital hypothyroidism(PCH) suspected dyshormonogenesis in Guangzhou, identified and treated at Guangzhou Newborn Screening Center. Six of them were born between 2011 and 2012.@*Method@#Retrospectively analyzed the clinical data of 9 children with PCH suspected dyshormonogenesis. Genetic analysis of TPO, DUOX2 and DUOXA2 genes were performed with Sanger sequencing.@*Result@#Of the 9 patients, four were identified variants in TPO gene including three cases with biallelic variants and one case with monoallelic variant. Novel c. 1784G>C( p. R595T) variant in TPO was predicted to be damaging by SIFT and PolyPhen-2. Four patients harbored monoallelic known variants in DUOX2 gene and the other one harbored heterozygous known mutation c. 738C>G(p.Y246X) in DUOXA2 gene.Two adolescent patients with biallelic variants in TPO gene showed classical PCH phenotypes with thyroid goiter or nodules. The six patients with monoallelic variant in TPO, DUOX2 or DUOXA2 presented variable phenotypes. Among the 433 578 newborns in the 2011-2012 cohort, there were 156 cases of CH. Six of these cases were PCH suspected dyshormonogenesis, among which 1 case was confirmed TPO biallelic variants and 5 cases were monoallelic variants of TPO, DUOX2, or DUOXA2 genes.@*Conclusion@#TPO and DUOX2 variants are the common molecular pathogenesis in children with PCH suspected dyshormonogenesis. Monoallelic variants in TPO, DUOX2 or DUOXA2 are associated with PCH and showed wide variability in their phenotypes. The novel variant p. R595T in TPO is probably a pathologic variant. The prevalence of PCH caused by TPO gene defects is rare in Guangzhou.
Résumé
Objective To observe the rates of local complications (bleeding/swelling) after trans-radial coronary intervention (TRI),to investigate possible impact factors,in order to provide guidance for the prevention of these adverse events.Methods A total of 198 cases who performed TRI at the department of interventional cardiology of the First Affiliated Hospital of Sun Yat-sen University from August to December,2011 were included in the present study.Data with regards to local complications were collected peri-operatively,by means of direct inquiry,point-of-care observation and measurements,and laboratory testing.Patients who developed complications and patients who did not were compared in terms of compressor position,loosening protocol and so on.Variables with statistical significance in univariate analysis were further included in Cox regression.SPSS 18.0 software was applied for all statistical analysis.Results The relative risks (RR) of the following two variables,namely whether or not the midpoint of compressor was on the midline of forearm,and the vertical distance from the horizontal plate of the compressor to the puncture site,were 2.602 and 1.403,respectively.Conclusions The midpoint of compressor on the midline of forearm,and the vertical distance from the horizontal plate of the compressor to the puncture site were major risk factors of local complications after TRI.
Résumé
Objective To investigate influencing factors of puncture site bleeding after trans-radial coronary intervention (TRI)in order to provide guidance for prevention of post-operative bleeding complications.Methods A total of 198 patients with TRI hospitalized at the department of interventional cardiology of our hospital from August,2011 to December,2011 were recruited in the study.In the prospective study,they were divided into two groups:bleeding group(n=62)and non-bleeding group(n=136).The general status,medication,position of radial compressor,time of immobilization of the wrist joint,duration of loosing tourniquet between the first time and second time and number of laps,time for depression,duration for total release of compression device and laboratory testing were recorded as data.Cox regression analysis was done to explore factors influencing bleeding.Results The factors for puncture site bleeding after trans-radial coronary intervention included pre-operative medications,location of compression device at the midline of operated forearm,distance between the compression device midpoint and the second wrist crease,and time for total release of compression device,with their RR=2.001,3.521,1.470 and 0.999,respectively.Conclusion Factors contributing to increased risk of local bleeding at puncture site following TRI included pre-operative medications,location of compression device at the midline of operated forearm,distance between the compression device midpoint and the second wrist crease;whereas the time for total release of compression device may be a protective factor.