The study of vitiligo has made a huge progress due to the development of medical technology. Some new treatment idea, methods and integrated therapies have been considered as the trending alternatives. This paper summarized the treatment of different regular treatment combined with fire needling for vitiligo in clinic.

Objective:To investigate the performance of W2 plastic scintillator in megavolt photon and electron beams.Methods:The photon and electron beam energy provided by linear accelerator was used to collect data of the W2 scintillator. The parameters include the electrometer reading stability, W2 dose and dose rate linearity, and angular response. And the dose uncertainty of the W2 correction factors was also investigated.Results:The standard deviation of the electrometer reading stability was between 0.03 and 0.47. The linear regression factors of W2 dose were all 1.0; the maximum deviation of the dose rates was 0.61%. The Cerenkov light radiation correction factor(CLR) for 6 and 10 MV were 0.741 and 0.746, respectively, and the CLR for 6, 9, 12 and 15 MeV were 0.750, 0.753, 0.757 and 0.757, respectively. The maximum deviation of dose uncertainty for 15 MeV was 3.15%.Conclusions:The signal obtained by the blue and green channel was no angular dependence, the same as the high-energy electron beam, which verified that the Cerenkov radiation correction factor has good linearity. W2 plastic scintillator can be applied to non-coplanar radiotherapy dosimetry.

OBJECTIVETo explore the applications of fluorescence in situ hybridization (FISH) in the diagnosis for the patients with gonadal dysgenesis.

METHODSAfter routine gynecologic examination, ultrasonography and endocrine examination, 5 cases of gonadal dysgenesis and hypogonadism were analyzed by using chromosomal diagnoses including G-banding, Q-banding, multiplex FISH and BAC-FISH analyses.

RESULTSAmong the 5 cases of gonad agenesis patients, 2 were pure gonadal dysgenesis with 46, XY karyotype, 3 were mixed gonadal dysgenesis with mos 45, X/47, XXX; 45, X/46, XY or 46, X, der(Y) karyotype.

CONCLUSIONSex chromosomal abnormalities resulted in gonadal dysgenesis symptoms. Applications of FISH and BAC-FISH analyses can correctly diagnose the sex chromosomal abnormalities for patients with gonad agenesis and provide accurate medical genetic data for clinical diagnosis and therapy.

Adolescent ; Chromosomes, Artificial, Bacterial ; genetics ; Gonadal Dysgenesis ; diagnosis ; genetics ; pathology ; therapy ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Karyotyping ; Male ; Sex Chromosome Aberrations

Objective To investigate association of vitamin D receptor (VDR) polymorphisms with susceptibility to psoriasis vulgaris and clinical response to calcipotriol in patients with psoriasis vulgaris.Methods A total of 110 patients with psoriasis vulgaris and 183 healthy controls were enrolled into this study,and they were all of Han nationality from Hainan province.Ligase detection reaction (LDR) was conducted to determine the genotypes of VDR gene polymorphisms rs2228570,rs731236,rs1544410 and rs7975232.Single nucleotide polymorphism (SNP)-based association analysis in genotypic and allelic models,and haplotype-based association analysis were then performed.Then,75 patients with psoriasis area and severity index (PASI) scores less than 10 were topically treated with calcipotriol ointment alone.After 6-week treatment,the efficacy of calcipotriol ointment was evaluated,and the correlation between the efficacy and individual genotypes was analyzed.Results The frequency of A allele of rs7975232 in the psoriasis group and control group was 39.09％ and 27.05％ respectively,and the risk of developing psoriasis in rs7975232 A allele carriers was significantly higher than that in non-carriers (OR =1.731,95％ CI:1.213-2.471,P ＜ 0.05).Additionally,the risk of developing psoriasis in individuals with AA genotype (OR =2.404,95％ CI:1.085-5.328,P ＜ 0.05),as well as in individuals with AC genotype (OR =2.143,95％ CI:1.283-3.579,P ＜ 0.05),was significantly higher than that in patients with CC genotype.CTGA haplotype carriers (rs2228570,rs731236,rs1544410,rs7975232,respectively) had significantly higher risk of developing psoriasis compared with non-carriers (OR =1.907,95％ CI:1.132-3.214,P ＜ 0.05).Among 72 patients with mild-to-moderate psoriasis whose PASI scores were less than 10,patients with CC genotype of rs7975232 showed better response to calcipotriol ointment compared with those with AC genotype (OR =3.798,95％ CI:1.061-13.590,P ＜ 0.05) and those with AA genotype (OR =9.667,95％CI:1.556-60.040,P ＜ 0.05).Conclusion VDR polymorphisms are associated with psoriasis susceptibility and clinical response to calcipotriol in patients with psoriasis individuals.

Objective:To develope an automatic volumetric modulated arc therapy (VMAT) planning for rectal cancer based on a dose-prediction model for organs at risk(OARs) and an iterative optimization algorithm for objective parameter optimization.Methods:Totally 165 VMAT plans of rectal cancer patients treated in Peking University Cancer Hospital & Institute from June 2018 to January 2021 were selected to establish automatic VMAT planning. Among them, 145 cases were used for training the deep-learning model and 20 for evaluating the feasibility of the model by comparing the automatic planning with manual plans. The deep learning model was used to predict the essential dose-volume histogram (DVH) index as initial objective parameters(IOPs) and the iterative optimization algorithm can automatically modify the objective parameters according to the result of protocol-based automatic iterative optimization(PBAIO). With the predicted IOPs, the automatic planning model based on the iterative optimization algorithm was achieved using a program mable interface.Results:The IOPs of OARs of 20 cases were effectively predicted using the deep learning model, with no significantly statistical difference in the conformity index(CI) for planning target volume(PTV)and planning gross tumor volume(PGTV)between automatic and manual plans( P>0.05). The homogeneity index (HI) of PGTV in automatic and manual plans was 0.06 and 0.05, respectively( t=-6.92, P< 0.05). Compared with manual plans, the automatic plans significantly decreased the V30 for urinary bladder by 2.7% and decreased the V20 for femoral head sand auxiliary structure(avoidance)by 8.37% and 15.95%, respectively ( t=5.65, 11.24, P< 0.05). Meanwhile, the average doses to bladder, femoral heads, and avoidance decreased by 1.91, 4.01, and 3.88 Gy, respectively( t=9.29, 2.80, 10.23, P< 0.05) using the automatic plans. The time of automatic VMAT planning was (71.49±25.48)min in 20 cases. Conclusions:The proposed automatic planning based on dose prediction and an iterative optimization algorithm is feasible and has great potential for sparing OARs and improving the utilization rate of clinical resources.

Traditional Chinese Medicine (TCM) has certain advantages in the treatment of precancerous lesions of gastric cancer (PLGC) based on the holistic concept and the thought of syndrome differentiation. Currently, it is generally divided into 6 kinds of syndromes: liver and stomach qi stagnation syndrome, liver and stomach heat stagnation syndrome, spleen and stomach weakness syndrome (including spleen and stomach qi deficiency syndrome with coldness), spleen and stomach damp heat syndrome, stomach yin deficiency syndrome and blood stasis in stomach collateral syndrome. Clinically, the doctor should treat PLGC patients according to different syndrome types by using Chinese medicine prescription, which could improve the gastric mucosal pathological state, gastroscopy and clinical symptoms, to rehibit the development of precancerous lesions, reduce the incidence rate of gastric cancer. In the future, the doctors shouldreach the consensus of treating PLGC with TCM diagnosis, and focus on the research of TCM compounds or monomers with obvious curative effect, increase the times of follow-up, and evaluate the long-term curative effect.

Objective:To investigate the performance of chromosome karyotype, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) in prenatal diagnosis of true fetal chromosome mosaicism. Methods:This retrospective study enrolled 40 women with true fetal chromosome mosaicism from 4 071 singleton pregnant women who were indicated for and underwent amniocentesis or/and cordocentesis in the the First Affiliated Hospital of Sun Yat-sen University from April 2018 to August 2021. The results of chromosome karyotyping, CMA and FISH, the types of chromosomal mosaicism, mosaicism ratio and pregnancy outcomes were analyzed using Chi-square test. Results:(1) The detection rate of true fetal mosaicism was 0.98% (40/4 071). (2) Sex chromosome mosaicism accounted for 42.5% (17/40). Other chromosomal mosaicism involved chromosomes 21, 22, 18, 16, 7, 12, 15, 17 and 20, as well as balanced chromosomal translocation. (3) The detection rate of true fetal mosaicism by chromosome karyotyping was 77.4% (24/31) from amniotic fluid samples and 10/19 from umbilical cord blood samples, while that data by CMA was 76.7% (23/30) and 7/11,respectively. (4) Of the 40 pregnant women with fetal chromosome mosaicism, FISH test was performed on 20 cases (14 cases were verified with both amniotic fluid and umbilical cord blood samples, five with amniotic fluid samples and one with umbilical cord blood sample), and all of the diagnosis of mosaicism were confirmed. For those with mosaicism ratio <30%, the detection rate by FISH was higher than that by CMA among amniotic fluid samples [14/19 vs 43.5% (10/23), χ2=3.88, P=0.049]. (5) Among the 40 pregnant women, five were lost to follow-up; 18 chose to terminate the pregnancy; and 17 continued the pregnancy to delivery. No abnormalities in mental or physical development were reported in the 17 neonates after birth or during on-line follow-up between 6 to 24 months old. Of the 14 pregnant women with mosaicism ratio <30% which confirmed by FISH, eight chose to continue the pregnancy, and no abnormalities in mental development or growth were found in the neonates. Conclusions:In prenatal diagnosis of true fetal choromosome mosaicism, the incidence of sex chromosome mosaicism is the highest. FISH may improve the prenatal diagnosis rate of mosaicism and is more accurate in determining the mosaicism ratio. The combination of FISH, CMA and chromosome karyotyping would significantly improve the detection rate of chromosomal mosaicism and assess the mosaicism ratio more accurately, which is of great value in clinical consultation and evaluation of fetal prognosis.

OBJECTIVE: To investigate the perinatal clinical phenotype and genetic characteristics of two fetuses with ring chromosome 21 mosaicisms. METHODS: Two fetuses who were diagnosed at the Xiamen Maternal and Child Health Care Hospital in November 2021 were selected as the study subjects. Clinical data of the two fetuses were collected. Conventional G-banded karyotyping and chromosomal microarray analysis (CMA) were carried out for the fetuses and their parents. RESULTS: Prenatal ultrasonography of fetus 1 has revealed absence of nasal bone, ventricular septal defect, persistent left superior vena cava, and mild tricuspid regurgitation. Chromosomal karyotyping was 46,X?,dic r(21;21)(p12q22;q22p12)[41]/45,X?,-21[9]. CMA has revealed a 30.00 Mb quadruplication at 21q11.2q22.3 and a 3.00 Mb deletion at 21q22.3. For fetus 2, ultrasonography has revealed pointed echo of the nasal bone. The fetus was found to have a karyotype of 46,X?,r(21)(p12q22)[83]/45,X?,-21[14]/46,X?,dic r(21;21)(p12q22;q22p12)[3]. CMA has revealed a 5.10 Mb quadruplication at 21q22.12q22.3 and a 2.30 Mb deletion at 21q22.3. CONCLUSION The perinatal phenotype of the two fetuses with ring chromosome 21 mosaicisms is related to the duplication of chromosomal segments near the breakpoints of the chromosomal deletions. The combined chromosomal karyotyping and CMA has enabled prenatal diagnosis and genetic counseling for these families.
Pregnancy ; Female ; Humans ; Mosaicism ; Ring Chromosomes ; Vena Cava, Superior ; Chromosome Aberrations ; Prenatal Diagnosis ; Microarray Analysis ; Fetus/diagnostic imaging*

Objective To compare two pretreatment plan QA methods for HalcyonTM accelerator using Portal Dosimetry (PD),and PTW OCTAVIUS 1500 detector array + Octagonal phantom (Oct 1500)respectively.Methods Parallel measurement-based pretreatment QA using two methods was performed for 22 IMRT/VMAT plans (74 fields) that have been used to treat 20 patients recruited in the Halcyon clinical trial.Several γ 2D comparisons were also applied to provide guidelines for Halcyon planning QA.Results Using Oct1500 method,the γ 2D passing rates for 74 fields in 22 Plans were 95.26±3.59,95.01±3.62 (Local Dose),99.05± 1.35,98.57± 1.96 (Max Dose) respectively.Two-related samples non-parametric tests suggested that the differences between the evaluation criteria were of statistical significance (Z =-7.220,-4.108,P＜0.05).For PD method,the γ 2D passing rates were 84.11％ ± 1.35％ (1 mm/1％),99.07％± 1.35％ (2 mm/2％),and 99.86％ ± 1.35％ (3 mm/3％).Two-related samples non-parametric tests suggested that the differences between evaluation criteria of PD method were statistically significant (Z =-7.475,-7.475,-6.906,P＜0.05).For 74 fields and max dose,3 mm/3％ evaluation criteria,two-related samples non-parametric tests suggested that the differences between PD and Oct1500 method were statistically significant (Z=-5.072,P＜0.05).Conclusions Both methods can be used for Halcyon pretreatment plan QA.PD is superior to Oct1500 with respect to efficiency and spatial resolution-induced verification accuracy.The criteria of 2 mm/2％ for PD,and Max Dose/3 mm/3％ for Oct1500 was suggested.

Objective:To develop a new method to set up patients using optical surface monitoring system and to compare it with the conventional method in head radiotherapy.Methods:A total of 358 set-ups (130 with the conventional method and 228 with the new method ), which were from 99 head tumor patients in Beijing Cancer Hospital treated between May 2018 to April 2019, obtained by using Image Guided Radiotherapy were retrospectively analyzed. The distributions of set-up errors, the number of abnormal positions, and the set-up time were compared to evaluate the potential advantages of the new method .Results:The mean (± standard deviation) absolute values of setup errors of the new method were (0.07±0.07) , (0.08±0.06) and (0.06±0.06) cm for the vertical, lateral, and longitudinal, (0.53±0.41)°, (0.59±0.44)° and (0.59±0.46)° for the rotation, pitch and roll, respectively. In the new method , the setup accuracy was improved( t=3.24-6.10, P<0.001)and the number of abnormal positions was greatly reduced(χ 2=60.66, P<0.001). Compared with the conventional method, the patient setup time was slightly reduced by the new method , but the difference was not statistically significant ( P>0.05). Conclusions:The new high-precision method to set up patients using optical surface monitoring system improves the accuracy of patients′ position, decreases the corrections applied by 6DoF couch, reduces the probability of abnormal positions, and suggests the potential benefit in head radiotherapy.