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OBJECTIVE@#To explore the clinical characteristics and genetic basis of two Chinese pedigrees affected with Joubert syndrome.@*METHODS@#Clinical data of the two pedigrees was collected. Genomic DNA was extracted from peripheral blood samples and subjected to high-throughput sequencing. Candidate variants were verified by Sanger sequencing. Prenatal diagnosis was carried out for a high-risk fetus from pedigree 2.@*RESULTS@#The proband of pedigree 1 was a fetus at 23+5 weeks gestation, for which both ultrasound and MRI showed "cerebellar vermis malformation" and "molar tooth sign". No apparent abnormality was noted in the fetus after elected abortion. The fetus was found to harbor c.812+3G>T and c.1828G>C compound heterozygous variants of the INPP5E gene, which have been associated with Joubert syndrome type 1. The proband from pedigree 2 had growth retardation, mental deficiency, peculiar facial features, low muscle tone and postaxial polydactyly of right foot. MRI also revealed "cerebellar dysplasia" and "molar tooth sign". The proband was found to harbor c.485C>G and c.1878+1G>A compound heterozygous variants of the ARMC9 gene, which have been associated with Joubert syndrome type 30. Prenatal diagnosis found that the fetus only carried the c.485C>G variant. A healthy infant was born, and no anomalies was found during the follow-up.@*CONCLUSION@#The compound heterozygous variants of the INPP5E and ARMC9 genes probably underlay the disease in the two pedigrees. Above finding has expanded the spectrum of pathogenic variants underlying Joubert syndrome and provided a basis for genetic counseling and prenatal diagnosis.
Subject(s)
Female , Humans , Pregnancy , Pedigree , Cerebellum/abnormalities , Abnormalities, Multiple/diagnosis , Eye Abnormalities/diagnosis , Kidney Diseases, Cystic/diagnosis , Phosphoric Monoester Hydrolases/genetics , Retina/abnormalities , East Asian People , MutationABSTRACT
Objective:To explore the genetic etiology of fetuses with high suspicion of congenital skeletal malformation detected by prenatal ultrasound.Methods:This retrospective study collected 21 pregnant women with highly suspected fetal skeletal malformation indicated by ultrasound (the couples had no skeletal malformation) at Institute of Medical Genetics, Henan Provincial People's Hospital from January 2019 to August 2020. Amniotic fluid/umbilical cord blood of the fetus and peripheral blood of the couples were obtained for karyotype analysis, chromosomal microarray analysis, and whole-exome sequencing. Sanger sequencing was performed for the "pathogenic" "suspected pathogenic" "variants of uncertain significance" variants detected by whole exome sequencing. Genetic etiology of the 21 fetuses was described.Results:A total of five chromosomal abnormalities were detected, including four cases of trisomy 21 and one trisomy 18. Chromosome microarray analysis detected one case of abnormal copy number variation, 16 p11.2 microdeletion syndrome. Ten cases of monogenic diseases were found by whole exome sequencing and eight genes were involved ( SGMS2, FGFR3, DYNC2H1, WDR35, TBX5, COL2A1, FGFR2, and ALPL). Totally, 14 variations were detected, among which seven were novel variations (c.8129T>A, c.7126G>A, c.10307_10320del, and c.2641G>T in DYNC2H1 gene; c.3085G>A and c.491G>A in WDR35 gene; c.1070G>T in COL2A1 gene). Conclusions:For fetus, whose parents have no skeletal malformation, highly suspected of congenital malformation of skeletal system by prenatal ultrasound, genetic factor is the primary reason, including chromosomal abnormalities, copy number variations, and monogenic mutations.
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OBJECTIVE@#To explore the genetic basis for a couple who had developed polyhydramnios during three pregnancies and given birth to two liveborns featuring limb contracture, dyspnea and neonatal death.@*METHODS@#Whole-exome sequencing (WES) was carried out on fetal tissue and peripheral blood samples from the couple. Suspected variants were verified by Sanger sequencing.@*RESULTS@#The fetus was found to harbor homozygous nonsense c.3718C>T (p.Arg1240Ter) variants of the CNTNAP1 gene, which were respectively inherited from its mother and father. The variant was unreported previously. According to the guidelines of the American College of Medical Genetics and Genomics, the variant was predicted to be pathogenic (PVS1+PM2+PP4).@*CONCLUSION@#The novel homozygous nonsense variants of the CNTNAP1 gene probably underlay the lethal congenital contracture syndrome type 7 (LCCS7) in this pedigree. Above finding has enabled genetic counseling and prenatal diagnosis for the family.
Subject(s)
Female , Humans , Infant, Newborn , Pregnancy , Cell Adhesion Molecules, Neuronal , China , Contracture/genetics , Mutation , Pedigree , Exome SequencingABSTRACT
Objective:To investigate the feasibility, efficacy, and safety of CT- and bronchoscopy-guided 125I seed implantation in the treatment of central lung cancer complicated with atelectasis. Methods:Retrospective analysis was conducted on twenty-nine patients who were treated from May 2016 to Oct 2019 in the Second Hospital of Tianjin Medical University for central non-small-cell lung carcinoma complicated with pulmonary atelectasis that was inoperable due to medical reasons. 125I seeds were implanted into the trachea under the guidance of bronchoscopy first.The 125I seeds were then implanted into the hilum of the lungs by percutaneous puncture under the guidance of the CT and template.The seed activity was 18.5-29.6 MBq, and the prescription dose was 120 Gy.TPS planning and quality verification were performed before and after the operations.The rate of atelectasis recanalization, the satisfactory rate of dose verification, the improvement of dyspnea index, the survival time, and the adverse events during and after operation were observed. Results:All 29 patients with lung cancer complicated with atelectasis successfully completed the seed implantation, and the satisfactory rate of quality verification was 93.1%.The rate of atelectasis recanalization at 2, 6, 12, 18, and 24 months was 93.1%, 89.7%, 78.6%, 76.2%, and 60%, respectively.Their dyspnea and anoxia symptoms were significantly relieved in 5-28 months after treatment.The results showed that the patients′ dyspnea index was 2.8-0.8 before treatment and 1.4-0.9 after treatment.The median follow-up period was 20 months and median survival was 21 months.Adverse events associated with the radiation therapy included pneumothorax, hemoptysis, cough, fever, and particle displacement.No level-3 or more serious adverse events occurred.Conclusions:The CT- and bronchoscopy-guided 125I seed implantation is a safe and effective therapy option for the treatment of central non-small-cell lung carcinoma associated with atelectasis.It contributes to a high rate of local recanalization, and can rapidly improve clinical conditions and quality of life of the patients with few adverse reactions.
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Objective:To evaluate the pre- and post-implantation dosimetric consistency and efficacy of CT-guided 125I radioactive seed implantation for the treatment of the local recurrence of lung cancers under the assistance of a universal coplanar template (also referred to as the universal template). Methods:This study involved 38 patients with a local recurrence of non-small cell lung cancers who received universal template-assisted 125I radioactive seed implantation in the Second Hospital of Tianjin Medical University from Jan 2009 to Dec 2015.Preoperative planning was carried out before implantation, and the prescription dose was 110 Gy.The paired T-test was adopted for cooperation between intraoperative verification result and pre-plan values of the dosimetric parameters including minimum peripheral dose (MPD), the minimum prescription doses delivered to 90% and 100% of the target volume ( D90 and D100), conformity index (CI), external index (EI), and homogeneity index (HI). The efficacy was evaluated at the 6th month after implantation according to the RECIST 1.1 (Response Evaluation Criteria in Solid Tumors). Results:All patients successively received the seed implantation.The pre-plan and post-implant dosimetric parameters were as follows: MPD (222.7±26.2), (227.74±29.8) Gy; D90(130.8±13.6), (134.8±12.8) Gy; D100 (106.4±10.6), (110.7±11.8) Gy, CI ( 0.75±0.06), (0.74±0.04), EI(22.7±5.8)%, (24.3±4.8)%; HI(36.8±4.7)%, (37.2±5.3)%, the mean irradiation dose of hearts (19.3±7.2), (21.3±6.8) Gy( P> 0.05). The median follow-up period was 22.5 months (8-98 months). The median survival was 21 months (95% CI, 7.4-34.6), and the 2-year overall survival (OS), progression-free survival (PFS), and local control (LC) rate were 47.4%, 39.5%, and 83.5%, respectively. Conclusions:The universal template-assisted and CT-guided 125I radioactive seed implantation in the treatment of postoperative local recurrence of non-small cell lung cancers can achieve the goal of the preoperative TPS planning during the operation and achieve good efficacy.It is a minimally invasive, accurate, safe and effective therapy.
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Objective:To explore the value of digital information line mark coplanar template (also referred to as the line mark template) in 125I radioactive seed implantation for the treatment of lung cancers. Methods:A retrospective analysis was conducted for 58 cases of lung cancers who were treated with template-assisted seed implantation in Oncology Department of the Second Hospital of Tianjin Medical University from Aug 2017 to May 2019.Line mark templates were adopted for 30 cases (the line mark template group) and general standard coplanar templates (also referred to as the general template) were used for 28 cases (the general template group). Pre-plan and post-implant parameters were compared, including the minimum prescription dose delivered to 90% of target volume ( D90), minimum peripheral dose (MPD), mean percentages of volume receiving 100%, 150% and 200% of the prescription doses ( V100, V150 and V200), external index (EI), conformity index (CI), and homogeneity index (HI) of target volume.The operation duration was also compared between the two groups. Results:There was no statistical difference between pre-plan and post-implant D90, MPD, V100, V150 and V200 in the line mark template group ( P>0.05). There was also no statistical difference between pre-plan and post-implant D90, MPD, V100, V150 and V200 of the general template group ( P>0.05). The operation duration of the line mark template group and the general template group was (44.3±12.4) and (60.0±12.8) min, respectively ( t=-3.03, P<0.05). Conclusions:The use of template-assisted seed implantation can accurately achieve preoperative planning, while the line mark template shortens the operation duration and thus improves the tolerance of patients.
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Interstitial permanent radioactive seed implantation delivers a high local dose to tumors and sharply drops off at surrounding normal tissues. Radioactive seeds implanted via ultrasound or computed tomography (CT) guidance are minimally invasive and facilitate quick recovery. Transrectal ultrasound-guided 125I seed implantation assisted by a transperineal plane template is standard for early-stage prostate carcinoma, with a highly consistent target volume dose distribution. The postplan dose evaluation is consistent with the preplan evaluation. Until now, there was no workflow for seed implantation elsewhere in the body, and it was difficult to effectively preplan for seed implantation because of patients' position changes, organ movement, and bone structure interference. Along with three-dimensional (3D) printing techniques and seed implantation planning systems for brachytherapy, coplanar and X Y axis coordinate templates were created, referred to as 3D-printed coplanar templates (3D-PCT). 125I seed implantation under CT guidance with 3D-PCT assistance has been very successful in some carcinomas. Preplanning was very consistent with postplanning of the gross tumor volume. All needles are kept parallel for 3D-PCT, with no coplanar needle rearrangement. No standard workflow for 3D-PCT-assisted seed implantation exists at present. The consensus topics for CT-assisted guidance compared to 3D-PCT-assisted guidance for seed implantation are as follows: Indications for seed implantation, preplanning, definition of radiation doses and dosimetry evaluation, 3D-PCT workflow, radiation protection, and quality of staff. Despite current data supporting 125I seed implantation for some solid carcinomas, there is a need for prospectively-randomized multicenter clinical trials to gather strong evidence for using 125I seed implantation in other solid carcinomas
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OBJECTIVE@#To explore the genetic basis for a child with supravalvular aortic stenosis.@*METHODS@#The child and his parents were subjected to conventional G-banding karyotyping, array comparative genomic hybridization (aCGH) and multiplex ligation-dependent probe amplification (MLPA) analysis.@*RESULTS@#No karyotypic abnormality was detected in the child and his parents. aCGH has identified a de novo 278 kb deletion encompassing the ELN gene in 7q11.23, which overlapped with the critical region of Williams-Beuren syndrome (WBS). MLPA has confirmed above findings.@*CONCLUSION@#The proband was diagnosed with atypical WBS. Deletion of the ELN gene may predispose to supravalvular aortic stenosis in the proband.
Subject(s)
Child , Humans , Aortic Stenosis, Supravalvular , Genetics , Chromosome Banding , Chromosomes, Human, Pair 7 , Genetics , Comparative Genomic Hybridization , Gene Deletion , Genetic Testing , Williams Syndrome , GeneticsABSTRACT
Objective:To evaluate the role of hypoxia-inducible factor-1α (HIF-1α) in hydrogen-induced inhibition of lipopolysaccharide (LPS)-induced inflammatory responses in mouse macrophages.Methods:The mouse RAW264.7 macrophages cultured in vitro were divided into 4 groups ( n=24 each) according to the random number table method: control group (C group), LPS group (L group), hydrogen-rich solution plus LPS group (H+ L group), and hydrogen-rich solution plus LPS plus HIF-1α inhibitor 2-methoxyestradiol (2ME2) group (H+ L+ M group). LPS 1 μg/ml was added, and the cells were incubated for 6 h in group L. In group L+ H, LPS was added first, the medium was changed to 0.6 mmol/L hydrogen-rich solution, and cells were incubated for 6 h. In group H+ L+ M, 2ME2 10 μmol/L was given first, cells were then incubated for 30 min, LPS and hydrogen-rich solution were added, and cells were incubated for 6 h. Western blot was used to determine the expression of HIF-1α, Beclin-1, Bcl-2/E1B-19 kDa interacting protein 3 (BNIP3) and LC3.Enzyme-linked immunosorbent assay was used to detect the concentrations of tumor necrosis factor (TNF)-α, interleukin (IL)-6, and IL-1β in the supernatant.The number of autophagosomes was observed using a transmission electron microscope. Results:Compared with group C, the concentrations of TNF-α, IL-6 and IL-1β in the supernatant were significantly increased, the expression of HIF-1α, Beclinl and BNIP3 in macrophages was up-regulated, the ratio of LC3Ⅱ/LC3Ⅰ was increased, and the number of autophagosomes was increased in group L ( P<0.05). Compared with group L, the concentrations of TNF-α, IL-6 and IL-1β were significantly decreased, the expression of HIF-1α, Beclin-1 and BNIP3 in macrophages was up-regulated, LC3Ⅱ/LC3Ⅰ ratio was increased, and the number of autophagosomes was increased in group H+ L ( P<0.05). Compared with group H+ L, the concentrations of TNF-α, IL-6 and IL-1β in the supernatant were significantly decreased, the expression of HIF-1α, Beclin-1, and BNIP3 in macrophages was down-regulated, and the ratio of LC3Ⅱ/LC3Ⅰ was decreased, and the number of autophagosomes was decreased in group H+ L+ M ( P<0.05). Conclusion:HIF-1α-mediated activation of autophagy is involved in the process of hydrogen-induced inhibition of LPS-induced inflammatory responses in mouse macrophages.
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Objective@#To investigate the incidence of neck and shoulder pain among dentists in several hospitals in Tianjin, China and the main factors for the onset of neck and shoulder pain, and to provide ideas for reducing the incidence rate of neck and shoulder pain in dentists.@*Methods@#In December 2018, a total of 140 dentists from General Hospital of Tianjin Medical University, The Second Hospital of Tianjin Medical University, and Tianjin Stomatological Hospital were selected as respondents. A self-designed questionnaire was used to investigate the incidence rate of neck and shoulder pain among the dentists and related influencing factors. A total of 140 questionnaires were distributed, among which 129 (96.9%) were usable questionnaires. The questionnaire contained the questions on personal information and conditions of neck and shoulder pain. The continuous data were expressed as Mean±SD, and the categorical data were expressed as percentage (%) . The multivariate logistic regression analysis was used to investigate influencing factors.@*Results@#Among the 129 respondents, 120 (93.02%) had neck and shoulder pain. The prevalence rates of neck pain alone, shoulder pain alone, and neck and shoulder pain were 34.9% (45/129) , 31.8% (41/129) , and 26.3% (34/129) , respectively. Certain factors, such as age, sex, exercise, working time, bad sitting posture, inappropriate seat, and engagement in periodontology or orthodontics, had a linear relationship with the incidence rate of neck and shoulder pain among the respondents (P<0.05) .@*Conclusion@#There is a high incidence rate of neck and shoulder pain among the dentists in some hospitals in Tianjin. Dentists should be encouraged to control the number of consultations, adjust the sitting posture during work, arrange working hours reasonably, and strengthen physical exercise, so as to reduce the incidence rate of neck and shoulder pain.
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Objective: To evaluate the therapeutic effects and adverse events related to apatinib use among conventional, treatment-failed, advanced, metastatic castration-resistant prostate cancer (mCRPC). Methods: A total of 25 patients were treated with apatinib at The Second Hospital of Tianjin Medical University from June 2016 to December 2017. Clinical data were classified according to the modified Response Evaluation Criteria in Solid Tumors (mRECIST). Pain relief evaluation, changes in serum prostate specific antigen (PSA), and adverse effects, were recorded. The evaluation period included 4 cycles (approximately 112 days). Results: The 25 patients were aged between 53 and 81 years (median: 72 years). All tumors were classified as adenocarcinomas in terms of histopathology. Classification of the therapeutic effect was as follows: 0 patients (0) had complete remission; 11 patients (44%) had partial remission;8 patients (32%) had stable disease; and 3 patients (12%) had progressive disease. The objective remission rate (ORR) was 44%, and the disease control rate (DCR) was 76%. Treatment-related adverse events were recorded for all patients: fatigue (n=22, 88%), gastroin-testinal symptoms (n=15, 60%), hypertension (n=7, 28%), hand-foot syndrome (n=6, 24%), dizziness, proteinuria, and others. Conclu-sions: Based on the demonstrated short-term therapeutic effects, apatinib could be a promising agent for conventional treatment-failed advanced CRPC. Adverse events are mild to moderate, and patients should be kept under observation and active management. To improve the effectiveness of apatinib treatment in the future, the mechanism of action of apatinib against mCRPC showld be ex-plored.
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OBJECTIVE@#To explore the genetic basis for a pedigree affected with Bartter's syndrome (BS).@*METHODS@#Panel-based next-generation sequencing (NGS) was carried out to detect mutation in BS-related genes SLC12A1, KCNJ1, BSND and CLCNKB. Sanger sequencing of MAGED2 gene and chromosomal microarray analysis (CMA) were also performed on the patient. Suspected mutation was validated in her family members.@*RESULTS@#No pathogenic mutation was detected by NGS, while a 0.152 Mb microdeletion at Xp11.21 (54 834 585-54 986 301) was found in the male fetus, which removed the entire coding region of the MAGED2 gene. His mother was a heterozygous carrier of the deletion. His father and sister did not carry the same deletion.@*CONCLUSION@#The loss of the MAGED2 gene may underlie the BS in this pedigree.
Subject(s)
Female , Humans , Male , Adaptor Proteins, Signal Transducing , Genetics , Antigens, Neoplasm , Genetics , Bartter Syndrome , Genetics , Genetic Testing , Heterozygote , Mutation , Pedigree , Sequence DeletionABSTRACT
OBJECTIVE@#To explore the molecular mechanism of a girl with developmental delay and intellectual disability.@*METHODS@#Chromosomal karotypes of the child and her parents were analyzed with routine G-banding method. Their genomic DNA was also analyzed with array comparative genomic hybridization (aCGH) for chromosomal duplications/deletions.@*RESULTS@#No karyotypic abnormality was detected in the child and her parents, while aCGH has identified a de novo 3.37 Mb deletion at 17p11.2 in the child.@*CONCLUSION@#The child was diagnosed with Smith-Magenis syndrome, for which RAI1 may be the causative gene.
Subject(s)
Child , Female , Humans , Chromosome Deletion , Chromosome Duplication , Chromosomes, Human, Pair 17 , Genetics , Comparative Genomic Hybridization , Karyotyping , Smith-Magenis Syndrome , GeneticsABSTRACT
Objective To evaluate the clinical efficacy and prognostic factors of limited-stage small cell lung cancer ( LS-SCLC) treated with 125 I radioactive seed implantation guided by CT combined with systemic chemotherapy. Methods A total of 128 limited-stage small cell lung cancer patients were treated with 125 I radioactive seed implantation combined with chemotherapy from Jun 2008 to Jun 2012 in Tianjin Medical University Second Hospital. Theχ2 test was used to analyze the influencing factors of short-term efficacy. Survival rate was calculated by Kaplan-Meier method, single factor analysis was performed by Log-rank, and multivariate analysis was performed by Cox proportional hazard model. Results Totally 128 patients finished the treatment. The overall response rate was 86.7％ ( 111/128 ) after 6 months of treatment. The 1-, 2-and 3-year overall survival rate was 77.9％, 39.8％and 28.0％, respectively, and the median survival time was 21.0 months. The univariate analysis showed that the following factors were main prognostic factors:age, performance status ( PS) , hemoglobin≥120 g/L before treatment, smoking index, the maximum diameter of tumor, neuron-specific enolase before treatment, subscribe for prophylactic cranial irradiation ( PCI) , number of chemotherapy cycle, chemotherapy response, prescribed dose ( PD ) , postoperation dose covering 100％ volume ( D100 ) , remedial model. multivariate analysis revealed that age, PS, hemoglobin≥120 g/L before treatment and PD, the maximum diameter of tumor, number of chemotherapy cycle, chemotherapy response, and remedial model were the independent prognostic factors for survival. 29 patients of 128 suffered from aerothorax and the incidence rate of aerothorax was 27.7％. Totally 16 patients occurred hemoptysis and theincidence rate was 12.5％. Conclusions 125 I radioactive seed implantation therapy showed good effecacy in the treatment of LS-SCLC. Age, PS, hemoglobin≥120 g/L before treatment, the maximum diameter of tumor, number of chemotherapy cycle, chemotherapy response, and remedial model might be the main prognostic factors for LS-SCLC patients.
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Objective To explore the role of next-generation sequencing(NGS)technology in the assisted diagnosis of RA-Sopathies.Methods Peripheral blood was extracted from 1 child patient with suspected Noonan syndrome and her parents,and the gene mutations were detected by adopting the aCGH and NGS.The results were verified by Sanger sequencing.Results The NGS results revealed that the heterozygous mutation of c.1406G>A existed in BRAF gene,and the results of Sanger sequencing in this child case was consistent with the NGS results.The Sanger sequencing results in her parents showed the locus was G/G wild type. Conclusion This child case was diagnosed as CFC.NGS plays a good auxiliary role in the differentiation diagnosis of RASopathies.
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<p><b>OBJECTIVE</b>To analyze the molecular mechanism and prognosis of a child with aortic stenosis and thumb aplasia.</p><p><b>METHODS</b>The karotypes of the child and his parents were analyzed with routine G-banding. Their genomic DNA was also analyzed with array comparative genomic hybridization(aCGH) for chromosomal duplications/deletions.</p><p><b>RESULTS</b>No karyotypic abnormality was detected at cytogenetic level for the child and his parents. aCGH identified a de novo 5.86 Mb deletion at 2q22.3-q23.3 in the child.</p><p><b>CONCLUSION</b>The child was diagnosed with 2q23.1 microdeletion syndrome. MBD5 may be the key gene for the 2q23.1 microdeletion syndrome.</p>
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<p><b>OBJECTIVE</b>To carry out genetic analysis on a child with developmental delay and multiple malformation.</p><p><b>METHODS</b>The karotypes of the child and her parents were analyzed with routine chromosomal G-banding. Their genomic DNA was analyzed with array comparative genomic hybridization (aCGH).</p><p><b>RESULTS</b>The karyotype of the proband was determined as 46,XX,del(6)(q22),inv(6)(p21.1q21), while no karyotypic abnormality was detected in her parents. aCGH has identified in the child a de novo 800 kb deletion encompassing the RUNX2 gene at 6p21.1 and a de novo 11.79 Mb deletion at 6q21-q22.31.</p><p><b>CONCLUSION</b>Both of the de novo deletions are pathogenic. Deletion of the RUNX2 gene probably underlies the cleidocranial dysplasia in the patient, while the 6q21-q22.31 deletion may result in malformation of the brain.</p>
Subject(s)
Child, Preschool , Female , Humans , Chromosome Banding , Chromosome Deletion , Chromosomes, Human, Pair 6 , Cleidocranial Dysplasia , Genetics , Comparative Genomic Hybridization , Core Binding Factor Alpha 1 Subunit , Genetics , Genetic Testing , KaryotypingABSTRACT
Objective To explore the therapeutic effect of radioactive 125I seeds combined with chemotherapy on the treatment of inoperative pancoast tumor by CT-guided percutaneous implantation of treatment planning system (TPS).Methods From December 2002 to December 2010,36 patients with pancoast tumor were confirmed by imaging and pathology.Among them,26 cases suffered from squamous cell carcinoma and 10 cases with adenocarcinoma.At 1 week after radioactive 125I implantation,chemotherapy was administered as intravenous 1 000 mg / m2 gemcitabine at 1 and 8 d and intravenous cisplatin 75 mg/ m2 at 1 d for 4 consecutive cycles.The prescribed dose (PD) was 120 Gy,and the median activity of the seeds was 0.7 mCi (2.59 × 107 Bq) with the range of 0.68-0.82 mCi (2.52 × 107-3.03 × 107 Bq).The patients were followed-up and the median follow-up time was 48 months.The survival rate was observed.Results The mPD of the target tumor was (118.7 ± 7.2) Gy,D90(126 ± 4.7) Gy,D90 ＞ mPD.The rate of CR (11 cases) was 63.6％,and the effective rate (CR + PR) was 83.4％.The follow-up last till December 1st,2016.1-,3-and 5-year local control rates were 92％,83％,and 67％,respectively.1-,3-and 5-year cumulative survival rate were 84.1％,56.7％,and 36.8％,respectively.Median survival was 38 months.Conclusions Chemotherapy combined with tissue radioactive 125I seed implantation is a minimally invasive and effective method for the treatment of pancoast tumor.
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Objective To investigate the feasibility of reducing CT scanning dose in the process of 125I radioactive seed implantation.Methods GEMS phantom and 062 M phantom were scanned using GE Lightspeed RT large hole CT with 120 kV,100 kV and 80 kV separately,and 150-10 mA (20 mA decreased progressively).The scanning dose,CT value and noise of the region of interest were recorded and the image quality was evaluated.Image signal-to-noise ratio (SNR) and contrast to noise ratio (CNR) values were calculated.Results With the decreasing of tube voltage and current,the SNR values were reduced accorgingly.The values had significant difference with those of standard images except the images acquired with 120 kV,150-70 mA and 100 kV,150-90 mA (t =-9.294-3.717,P ＜0.05).With the decreasing of the tube voltage and current,the CNR decreased significantly.The image quality was too low to evaluate while CNR lower than 2.The high contrast resolution of the CT images were not affected obviously with the tube voltage and current lowering.Conclusions In the process of 125I radioactive seed implantation,it is feasible to choose lower tube voltage and tube current(100 kV,70 mA) to scan the same area repeatedly except for the first scan with standard chest scanning parameters.The patient radiation dose has fallen dramatically.
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Objective To evaluate the efficacy and toxicity of pemetrexed and nedaplatin in the treatment of patients with locally advanced or metastatic urothelial cell carcinoma who failed a first-line GC regimen.Methods A total of 11 patients with locally advanced or metastatic urothelial carcinoma failed with first-line treatment of GC regimen were included in the present study.There were 6 males and 5 females,aged 56-80 years old,median age was 65 years old.Six patients' primary tumors were in bladder,4 in the renal pelvis,1 ureter.There were 7 cases with ECOG score 0 point,3 cases 1 point,1 case 2 points.Patients received pemetrexed 500 mg/m2 intravenously on the 1st day,and nedaplatin 25mg/m2 from the 1st to 3th day every 21 days.The evaluation of efficacy and adverse reactions were carried out after 2 to 3 cycles.Results Eleven patients received 1 to 6 cycles (mean 3.3 cycles) treatments.There were 2 cases (18.2％) complete remission,5 cases (45.5％) partial remission,2 cases (18.2％) no change and 2 cases (18.2％) progressed.The total effective rate was 63.6％.The main adverse events were anemia (6 cases),leukopenia (5 cases),nausea and vomiting (6 cases) and rash (5 cases),all of which were mild to moderate.No treatment-related death occurred.Conclusions Pemetrexed and nedaplatin regimen could be effective in the treatment of advanced urothelial carcinoma after first-line chemotherapy failed.The side effect is mild.