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OBJECTIVE@#To explore the coincidence rate of G-banding karyotype analysis and fluorescence in situ hybridization (FISH) for the diagnosis of children with sex chromosome mosaicisms.@*METHODS@#A retrospective analysis was carried out for 157 children with suspected sex chromosome abnormalities who had presented at Shenzhen Children's Hospital from April 2021 to May 2022. Interphase sex chromosome FISH and G-banding karyotyping results were collected. The coincidence rate of the two methods in children with sex chromosome mosaicisms was compared.@*RESULTS@#The detection rates of G-banding karyotype analysis and FISH were 26.1% (41/157) and 22.9% (36/157) , respectively (P > 0.05). The results of G-banding karyotype analysis showed that 141 cases (89.8%) were in the sex chromosome homogeneity group, of which only 5 cases (3.5%) were inconsistent with the results of FISH. There were 16 cases (10.2%) in the sex chromosome mosaicism group, of which 11 cases (68.8%) were inconsistent with the results of FISH. There was a statistical difference between the two groups in the coincidence rate of the results of the two methods (P < 0.05).@*CONCLUSION@#No significant difference was found between G-banding karyotype analysis and FISH in the detection rate of chromosome abnormalities. The coincidence rate in the mosaicism group was lower than that in the homogeneity group, and the difference was statistically significant. The two methods should be combined for clinical diagnosis.
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Humans , Mosaicism , In Situ Hybridization, Fluorescence/methods , Retrospective Studies , Karyotyping , Chromosome Aberrations , Sex Chromosome Aberrations , Karyotype , Chromosome Banding , Sex ChromosomesABSTRACT
Purpose@#This study was aimed to investigate long-term survivals and toxicities of early-stage nasopharyngeal carcinoma (NPC) in endemic area, evaluating the role of chemotherapy in stage II patients. @*Materials and Methods@#Totally 187 patients with newly diagnosed NPC and restaged American Joint Committee on Cancer/ International Union Against Cancer 8th T1-2N0-1M0 were retrospectively recruited. All received intensity-modulated radiotherapy (IMRT)±chemotherapy (CT) from 2001 to 2010. @*Results@#With 15.7-year median follow-up, 10-year locoregional recurrence-free survival, distant metastasis-free survival (DMFS), disease-specific survival (DSS), and overall survival (OS) were 93.3%, 93.5%, 92.9% and 88.2%, respectively. Multivariable analyses showed cervical lymph nodes positive and pre-treatment prognostic nutritional index ≥ 52.0 could independently predict DMFS (p=0.036 and p=0.011), DSS (p=0.014 and p=0.026), and OS (p=0.002 and p 45 years (p=0.002) and pre-treatment lactate dehydrogenase ≥ 240 U/L (p 0.05). Unsurprising, patients in IMRT+CT had more acute gastrointestinal reaction, myelosuppression, mucositis, late ear toxicity, and cranial nerve injury (all p < 0.05) than IMRT alone group. @*Conclusion@#Superior tumor control and satisfying long-term outcomes could be achieved with IMRT in early-stage NPC with mild late toxicities. As CT would bring more toxicities, it should be carefully performed to stage II patients.
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Objective:To compare 5-year overall survival (OS) and disease free survival (DFS) between preoperative three dimensional conformal radiotherapy (3DCRT) and volumetric medulated arc therapy (VMAT) concurrently combined with chemotherapy for locally advanced rectum cancer (LARC), and analyze the value of induction and/or consolidation chemotherapy in these circumstances.Methods:334 patients with LARC treated with preoperative 3DCRT (172 cases) and VMAT (162 cases) concurrently combined with chemotherapy, main protocol XELOX (capecitabine plus oxaplatin), and subsequent surgery in Sun Yat-sen University from May 2007 to April 2013 were retrospectively analyzed. The radiation prescription dose for VMAT group was 50 Gy 25 fractions for planning target volume1(PTV 1), and 46 Gy 25 fractions for PTV 2. The radiation prescription dose for 3DCRT group was 46 Gy 23 fractions for PTV 2. One hundred and eighty-five cases of all received preoperative concurrent chemoradiotherapy (namely, CCRT group), 149 cases received preoperative concurrent chemoradiotherapy plus median 2 courses (1-7 courses) induction and/or consolidation chemotherapy (namely, CCRT±induction chemotherapy±consolidation chemotherapy group), whose main chemotherapy protocol was XELOX. Difference of 5-year OS and DFS between 3DCRT and VMAT group was compared. The rate differences of acute toxicity during chemoradiotherapy, postoperative complications, ypCR, and survival between CCRT group and CCRT±induction chemotherapy±consolidation chemotherapy group were analyzed. Results:After a median follow-up of 62.3 months (2.4-119months) for the 334 patients, no any significant difference for 5-year OS (79.0% vs. 83.2%, P=0.442) and 5-year DFS (77.0% vs. 82.1%, P=0.231) between 3DCRT and VMAT group was observed. There was no any significant difference for the Grade 3 hematological toxicity (7.0% vs. 12.1%, P=0.114) and non-hematological toxicity (14.1% vs. 16.8%, P=0.491) during chemoradiotherapy, postoperative complications (17.3% vs. 17.4%, P=0.971), ypCR rate (25.4% vs. 30.2%, P=0.329), 5-year OS (80.5% vs. 82.0%, P=0.714) and 5-year DFS (78.8% vs. 81%, P=0.479) between CCRT group and CCRT±induction chemotherapy±consolidation chemotherapy group. Conclusions:Compared with 3DCRT, the physics advantage of VMAT technique does not significantly convert into clinical benefits and improve 5-year OS and DFS, even further boosting radiation dose to the gross tumor volume. It is safe for median 2 courses of induction and/or consolidation chemotherapy before and or after preoperative concurrent chemoradiotherapy in the treatment of LARC, though it does not significantly improve ypCR rate and survival.
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Objective:To investigate the people's cardiopulmonary resuscitation (CPR) ability in Hunan Province and whether there are differences in the skill level of CPR among respondents of different ages and education levels.Methods:A self-made questionnaire was conducted to survey people in Hunan Province by means of WeChat from May 2018 to April 2019. The questionnaire referred to 2016 National consensus on cardiopulmonary resuscitation in China issued by Cardiopulmonary Resuscitation Specialized Committee of Chinese Research Hospital Association and 2017 version of American Heart Association (AHA) CPR operational guide, and combined with the CPR assessment scale of Hunan Provincial People's Hospital. The contents of the survey included the basic information of the subjects, the common knowledge and skills of first aid, the willingness to learn CPR skills and implement CPR, and the operational requirements of high quality CPR, etc. Results:A total of 6 563 people received the on-site first aid knowledge questionnaire, and 4 355 people completed and submitted the questionnaire. The recovery rate was 66.36%, of which 3 602 valid questionnaires were from IP in Hunan Province, and the qualified rate was 82.71%. Among the subjects, 1 532 were men (42.53%) and 2 070 were women (57.47%). The majority aged group from 19 to 30 (59.41%) and from 31 to 50 (36.70%). 307 were rural (8.52%) and 3 295 were urban (91.48%); and the majority levels of education were senior or technical secondary school (38.26%) and undergraduate or junior college (44.50%). Of the 3 602 respondents, 39.09% indicated that they had been exposed to CPR knowledge and only 0.36% indicated that they did not wish to participate in CPR training. 69.93% of the respondents said they would actively to help if they wet cardic arrest, and 97.92% of those were willing to do so if the patients were relatives or friends. The survey results showed that only 8.91% of respondents chose relatively high-quality CPR options (chest compressions were performed first, the pressing point was located in the sternum of the midpoint of bilateral nipple line, the pressing frequency was 100-120 times/min, pressing depth was 5-6 cm, the ratio of chest compression to artificial ventilation was 30∶2). Among these people, the correct rate was higher in the ages of 31-50 years old and ≤ 18, 19-30 than those ≥51 years old (12.71% vs. 0%, 6.87%, 8.70%, χ2 = 41.420, P < 0.01). The correct rate of education at graduate level and above was higher than those in junior middle school and below, high school or technical secondary school, undergraduate or junior college (19.57% vs. 2.07%, 3.41%, 13.72%, χ2 = 152.262, P < 0.01). Conclusions:The public in Hunan Province have a strong sense of first aid, and some of the theoretical knowledge of CPR. People between 31 years old and 50 years old of age and with graduate education and above know more about CPR, but the overall mastery of CPR skills is poor. It is necessary to further improve the ability of the public as the first witness by teaching various skills of CPR in various forms.
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Objective:To search for the clinical indicators in differentiating Graves′ disease from subacute thyroiditis (SAT).Methods:Retrospective analysis was performed on thyroid function measurement of 265 cases of newly diagnosed Graves′ disease, 76 cases of SAT with thyrotoxicosis, 100 cases of non-toxic thyroid nodules, 105 cases of autoimmune thyroid diseases with normal thyroid function, and 151 cases of outpatients with normal thyroid function and without thyroid diseases.Results:Free triiodothyronine(FT 3)/free thyroxine(FT 4) ratio of Graves′ disease patients was significantly higher than that of SAT patients with thyrotoxicosis (0.65±0.29 vs 0.32±0.75, P<0.05). Receiver operating characteristic curve(ROC curve) analysis of FT 3/FT 4 ratio between Graves′ disease group and SAT group showed that FT 3/FT 4 ratio greater than 0.4 with a sensitivity of 98.11% and a specificity of 83.81% for diagnosis of Graves′ disease. Conclusion:FT 3/FT 4 ratio greater than 0.4 is helpful for differentiating Graves′ disease from subacute thyroiditis with thyrotoxicosis.
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Objective@#To assess the interobserver variations in delineating the planning target volume (PTV) and organs at risk (OAR) using different contouring methods during intensity-modulated radiation therapy (IMRT) for nasopharyngeal carcinoma (NPC), aiming to provide references for the quality control of multi-center clinical trials.@*Methods@#The PTV and OAR of CT image of 1 NPC patient manually delineated by 10 physicians from 8 different radiation centers were defined as the " manual contour group" , and the OAR auto-contoured using the ABAS software and modified by the physicians were defined as the " auto+ manual contour group" . The maximum/minimum ratio (MMR) of the PTV and OAR volumes, and the coefficient of variation (CV) for different delineated contours were comparatively evaluated.@*Results@#Large variation was observed in the PTV and OAR volumes in the manual contour group. The MMR and CV of the PTV were 1.72-3.41 and 0.16-0.39, with the most significant variation in the PTVnd (MMR=3.41 and CV=0.39 for the PTVnd-L). The MMR and CV of the manually contoured OAR were 1.30-7.89 and 0.07-0.67. The MMR of the temporal lobe, spinal cord, temporomandibular joint, optic nerve and pituitary gland exceeded 2.0. Compared with the manual contour group, the average contouring time in the auto+ manual group was shortened by 68% and the interobserver variation of the OAR volume was reduced with an MMR of 1.04-2.44 and CV of 0.01-0.37.@*Conclusions@#Large variation may occur in the PTV and OAR contours during IMRT plans for NPC delineated by different clinicians from multiple medical centers. Auto-contouring+ manually modification can reduce the interobserver variation of OAR delineation, whereas the variation in the delineation of small organs remains above 1.5 times. The consistency of the PTV and OAR delineation and the possible impact upon clinical outcomes should be reviewed and evaluated in multi-center clinical trials.
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Objective To assess the interobserver variations in delineating the planning target volume (PTV) and organs at risk (OAR) using different contouring methods during intensity-modulated radiation therapy (IMRT) for nasopharyngeal carcinoma (NPC),aiming to provide references for the quality control of multi-center clinical trials.Methods The PTV and OAR of CT image of 1 NPC patient manually delineated by 10 physicians from 8 different radiation centers were defined as the "manual contour group",and the OAR auto-contoured using the ABAS software and modified by the physicians were defined as the "auto+manual contour group".The maximum/minimum ratio (MMR) of the PTV and OAR volumes,and the coefficient of variation (CV) for different delineated contours were comparatively evaluated.Results Large variation was observed in the PTV and OAR volumes in the manual contour group.The MMR and CV of the PTV were 1.72-3.41 and 0.16-0.39,with the most significant variation in the PTVnd (MMR=3.41 and CV =0.39 for the PTVnd-L).The MMR and CV of the manually contoured OAR were 1.30-7.89 and 0.07-0.67.The MMR of the temporal lobe,spinal cord,temporomandibular joint,optic nerve and pituitary gland exceeded 2.0.Compared with the manual contour group,the average contouring time in the auto+ manual group was shortened by 68％ and the interobserver variation of the OAR volume was reduced with an MMR of 1.04-2.44 and CV of 0.01-0.37.Conclusions Large variation may occur in the PTV and OAR contours during IMRT plans for NPC delineated by different clinicians from multiple medical centers.Auto-contouring+ manually modification can reduce the interobserver variation of OAR delineation,whereas the variation in the delineation of small organs remains above 1.5 times.The consistency of the PTV and OAR delineation and the possible impact upon clinical outcomes should be reviewed and evaluated in multi-center clinical trials.
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Therapeutic goal for locally advance rectal cancer (LARC) patients includes long-term survival and function preservation of pelvic organs. During the recent two decades, treatment strategy for LARC is gradually shifing to minimally invasive surgery, even avoiding a major surgery. "Watch and wait (W&W)" strategy is effective in dramatically decreasing surgical trauma and significantly improving preservation of defecation, urination and sexual function. Total neoadjuvant therapy (TNT) shifts all or part of adjuvant chemotherapy to the neoadjuvant phase and has showed obvious advantage in tumor shrinkage and complete clinical response (cCR) achievement. This article will summarize the transition of treatment strategy of LARC towards W&W from standard treatment. After more than ten years of development, both NCCN and ESMO guidelines recommend stratified neoadjuvant treatment considerations based on distinct risk classifications and especially suggest TNT for LARC patients with advanced diseases, which affirms the value of TNT in tumor shrinkage. Although accumulating data show that pelvic control and organ preservation using W&W strategy after cCR is equal or non-inferior to standard surgery, impact on long-term survival still needs prospective randomized controlled study; no consensus has been achieved for the detail of the W&W strategy. Thus W&W strategy is suggested to applied in hospitals specialized in the treatment of rectal cancer within the framework of multiple disciplinary treatment. In view of special medical conditions of our country, we still need to accumulate more experience and data of W&W strategy for rectal cancer patients with appeals for sphincter preservation and actively participate in international researches.
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This paper aims to explore a new way to cultivate college students' autonomous learning ability by taking the flipped classroom teaching of molecular medicine in medical colleges as an example. In view of the specific teaching content and characteristics of molecular medicine, we formulated a mixed teaching plan based on flipped classroom. By setting the teaching objectives and tasks beforehand, students were guided to explore and acquire knowledge independently from the abundant teaching resources library. In order to test the effect of students' autonomous learning and expand the cultivation of students' ability of information collection and processing, inquiry initiation, and communication and cooperation, we launched classroom discussions, communications, questions answering and group collaborative research topic-based reports. Through the reform of teaching assessment system, students' autonomous learning status can be effectively monitored to help ensure the implementation of the flipped classroom.
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Objective To investigate the effect of alogliptin on albuminuria in patients with early type 2 diabetic kidney disease (DKD) and the related mechanism.Methods One hundred patients with early DKD admitted in our hospital from May 2016 to May 2017 were randomly divided into two groups with 50 cases in each group.Patients in the control group were given metformin and gliclazide,while those in study group were given metformin and alogliptin,the treatment lasted for 24 weeks.The changes of urinary albumin-to-creatinine ratio (UACR),stromal cell-derived factor-1α (SDF-1α) and the fasting plasma glucose (FPG),2-h postprandial plasma glucose (2 hPPG),glycosylated hemoglobin(HbA1c) were measured before and after the treatment in two groups.Results There were no significant differences in HbA1c [(8.17± 0.46)％ vs.(8.29±0.48)％],UACR[(109±53) vs.(105±48)mg/g],SDF-1α [(1.21±0.3 9) vs.(1.17±0.35)μg/L] levels before treatment between two groups (t=0.343,0.464,0.075,all P＞0.05).After treatment,the HbA1c levels were significantly decreased in both groups (t=2.293,2.302,all P=0.03) and there was no significant difference between two groups[(6.82±0.75)％ vs.(6.93 ±0.79)％,t=0.295,P=0.77];the UACR levels were significantly reduced in both groups,but the level of study group was significantly lower than that of control group [(82±38) vs.(94±47) mg/g,t=3.320,P＜0.01];the SDF-1α levels were significantly increased in both groups,but the level of study group was significantly higher than that of control group[(3.01 ±0.38) vs.(2.76±0.42)μg/L,t=5.474,P＜0.01].There was no significant difference in the incidence of adverse reactions between the two groups [13％ (6/46) vs.12％ (6/48),x2=0.002,P＞0.05].Conclusion Alogliptin can effectively control the blood glucose,reduce urine albumin excretion and protect renal function in patients with early type 2 diabetic nephropathy,which is associated with the increased SDF-1α levels.
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Objective To investigate the feasibility of non-operative management (NOM) by comparing the therapeutic effects between NOM and total mesorectal excision (TME) for rectal cancer patients with clinical complete response (cCR) after neo-adjuvant chemoradiotherapy.Methods A total of 135 patients with stage Ⅱ/Ⅲ rectal cancer who obtained cCR after neo-adjuvant chemoradiotherapy in Sun Yat-sen University Cancer Center from 2006 to 2016 were recruited and assigned into the NOM (n =43) and standard operative management (SOM) groups (n=92).The local recurrence rate,accumulative local control (LC) rate after salvage therapy,disease-free survival (DFS),overall survival (OS) and sphincter preservation rate were statistically compared between two groups.Kaplan-Meier analysis and log-rank test were utilized to calculate the LC,OS and DFS.Chi-square test was performed to calculate the sphincter preservation rate.Results The mean follow-up duration was 39 months (range:10-127 months).Of 135 patients,the local recurrence rate and distant metastasis rate were 3.7％ and 11.1％,and the 3-year DFS and OS were 90.5％ and 97.0％.In the NOM and SOM groups,the 3-year DFS were 87％ and 93％,and the 5-year DFS were 73％ and 87％(P=0.089).The 3-year OS were 98％ and 99％,and the 5-year OS were 98％ and 97％ (P=0.578).In the NOM group,the local recurrence rate was 12％ (n =5),80％ of patients received salvage treatment and the accumulative LC rate was calculated as 98％.In the SOM group,the local recurrence rate was 0,which was significantly lower than that in the NOM group (P=0.O10).In the NOM group,the sphincter preservation rate was 93％,significantly higher compared with 70％ in the SOM group (P=0.030).Conclusions It is feasible for rectal cancer patients with cCR to receive NOM following neo-adjuvant chemoradiotherapy.Partial locally recurrent patients can be healed by timely salvage therapy,thereby averting TME and relevant complications and enhancing the quality of life of rectal cancer patients.
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Objective To investigate the prognostic value of American Joint Committee on Cancer-tumor regression grading ( AJCC-TRG) combined with ypTN stage in patients with locally advanced rectal cancer (LARC),who were treated with neoadjuvant chemoradiotherapy,and to identify the subgroups with the worst prognosis. Methods A total of 263 patients with LARC,including 176 males and 87 females,with a median age of 55 years,were admitted to Sun Yat-sen University Cancer Center from 2004 to 2012.All the patients received neoadjuvant chemoradiotherapy before surgery and underwent total mesorectal excision at 6 to 8 weeks after radiotherapy. All the surgical specimens were reevaluated according to the AJCC ( 7th edition)-TRG system and ypTN staging criteria. The prognostic prediction by TRG combined with ypTN was evaluated using survival analysis. The Kaplan-Meier method was used to calculate the rates of overall survival ( OS ) , disease-free survival ( DFS ) , local recurrence-free survival ( LRFS ) , and distant metastasis-free survival ( DMFS ) . The log-rank test was used for survival comparison and univariate prognostic analysis. Results The median follow-up was 601 months. The 5-year rates of OS, DFS, LRFS, and DMFS for all patients were 800%,750%,970%,and 810%,respectively. There were significant differences in OS, DFS,and DMFS between different ypT/TRG subgroups and different ypN/TRG subgroups (all P<005). ypT3-4/TRG 2-3 and ypN1-2/TRG 2-3 subgroups showed the worst prognosis. The 5-year rates of OS,DFS, and DMFS of the two subgroups were 669%/560%, 522%/414%, and 609%/460%, respectively. Conclusions A combination of AJCC-TRG system and ypTN staging can better predict the prognosis of LARC and identify the subgroups with the worst prognosis, which may provide a clinical guidance for postoperative individualized decision on adjuvant therapy for LARC.
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Objective To investigate the prognostic value of American Joint Committee on Cancer-tumor regression grading ( AJCC-TRG) combined with ypTN stage in patients with locally advanced rectal cancer (LARC),who were treated with neoadjuvant chemoradiotherapy,and to identify the subgroups with the worst prognosis. Methods A total of 263 patients with LARC,including 176 males and 87 females,with a median age of 55 years,were admitted to Sun Yat-sen University Cancer Center from 2004 to 2012.All the patients received neoadjuvant chemoradiotherapy before surgery and underwent total mesorectal excision at 6 to 8 weeks after radiotherapy. All the surgical specimens were reevaluated according to the AJCC ( 7th edition)-TRG system and ypTN staging criteria. The prognostic prediction by TRG combined with ypTN was evaluated using survival analysis. The Kaplan-Meier method was used to calculate the rates of overall survival ( OS ) , disease-free survival ( DFS ) , local recurrence-free survival ( LRFS ) , and distant metastasis-free survival ( DMFS ) . The log-rank test was used for survival comparison and univariate prognostic analysis. Results The median follow-up was 601 months. The 5-year rates of OS, DFS, LRFS, and DMFS for all patients were 800%,750%,970%,and 810%,respectively. There were significant differences in OS, DFS,and DMFS between different ypT/TRG subgroups and different ypN/TRG subgroups (all P<005). ypT3-4/TRG 2-3 and ypN1-2/TRG 2-3 subgroups showed the worst prognosis. The 5-year rates of OS,DFS, and DMFS of the two subgroups were 669%/560%, 522%/414%, and 609%/460%, respectively. Conclusions A combination of AJCC-TRG system and ypTN staging can better predict the prognosis of LARC and identify the subgroups with the worst prognosis, which may provide a clinical guidance for postoperative individualized decision on adjuvant therapy for LARC.
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Objective:To systematically evaluate the volumetric changes of upper airway after rapid maxillary expansion using Meta analysis.Methods:All literatures about volumetric changes in the upper airway after rapid maxillary expansion were searched from the database in general.The literatures were screened according to the correlation and the inclusion criteria,included the literatures were analyzed by Rev Man 5.3.Results:11 literatures were finally selected.Meta analysis indicated that,after treatment nasopharyngeal volume increased by 0.62 cm3(P=0.000 2),palatopharyngeal volume increased by 0.62 cm3(P=0.02),glossopharyngeal volume increased by 0.39 cm3(P=0.11),oropharyneal volume increased by 0.40 cm3(P=0.27).Conclusion:The existing evidence indicates that rapid maxillary expansion can increase the volume of nasopharynx and retropalatal part of upper airway.
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Objective To investigate the efficacy and toxicities of neoadjuvant chemoradiotherapy (neoCRT) in the management of unresectable locally advanced adherent colon cancer (LAACC).Methods A retrospective analysis was performed on the clinical records of 40 patients with initially diagnosed unresectable LAACC who received preoperative neoCRT in our center from October 2010 to December 2015.Results Thirty-nine patients completed the preoperative neoCRT.Thirty-four patients underwent radical resection after neoCRT, and the R0 resection rate, pathological complete response rate (pCR), tumor downstaging rate, nodal downstaging rate, and clinical downstaging rate were 91%, 24%(8/34patients), 76%(26/34patients),100%(32/32patients), and 94%(32/34patients), respectively.Among the 21 patients with bladder invasion, the full bladder was preserved in 7 patients (33%) and partial cystectomy was performed in 11 patients (52%).During the course of neoCRT, the grade 3-4 hematologic toxicity rate, grade 3 hand-foot syndrome rate, grade 3 radiodermatitis, and incomplete intestinal obstruction rate were 23%, 3%, 3%, and 5%, respectively.The 3-year sample size was 25 patients.For all the patients, the 3-year overall survival (OS) and progression-free survival (PFS) rates were 75% and 80%, respectively.Of the 34 patients who received surgical radical resection, the 3-year OS and disease-free survival (DFS) rates were 87% and 81%, respectively.In addition, local tumor recurrence was identified in 3 patients, and distant metastasis was identified in 6 patients.Conclusions NeoCRT is an effective treatment for unresectable LAACC that results in significant tumor downstaging and enhanced R0 resection rate without an increase in surgical complications.The patients treated with radical surgical resection after neoCRT show a satisfactory short-term outcome.Further studies will be required to determine the clinical value of neoCRT in treating LAACC.
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Objective To investigate the genotype and mutation frequency of thalassemia in child patients of Shenzhen region so as to provide evidences for the gene diagnosis and genetic counseling of thalassemia.Methods A total of 1 206 child patients suspected with thalassemia were retrospectively analyzed.The gene deletion of α-thalassemia was detected by Gap-PCR.The point mutations of α-thalassemia and β-thalassemia were determined by reverse dot blot(RDB)-PCR.The specimens suspected with HKαα and rare gene mutations were determined with nested PCR and gene sequencing,respectively.Results The detection rate of thalassemia was 76.9％ (927/ 1 206).Among them,α-thalassemia accounted for 40.5％ (489/1 206),and--SEA/αα was the most common gene mutation(75.1％);β-thalassemia accounted for 33.7％ (406/1 206),and the main IVS-2-654 (C→T) and CDM1-42 (-TCTT) heterozygous mutations accounted for 35％ and 32.5％,respectively.In addition,there were 32(2.7％) β-thalassemia patients with α-thalassemia mutation,1 patient with HKαα/ααQS,1 α-thalassemia patient with CD61 (AAG→TAG)/--SEA and 1 β-thalassemia patient with CD5 (CCT→C).Conclusion The are complicated gene mutation types and rare gene mutations of thalassemia in child patients of Shenzhen region.
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Objective To evaluate the mid-to long-term survival benefits of preoperative sandwich-like neoadjuvant chemoradiotherapy (CRT) in patients with locally advanced rectal cancer (LARC).Methods A total of 45 LARC patients who underwent neoadjuvant sandwich CRT in the form of XELOX regimen prior to,concurrently with,and following volumetric modulated arc radiotherapy (VMAT) in 2012 were enrolled in this study.VMAT was given at a gross tumor volume dose of 50 Gy in 25 fractions,and a clinical target volume dose of 45-46 Gy in 25 fractions.Total mesorectal excision was performed 6 to 8 weeks after completion of VMAT.The overall survival (OS) and disease-free survival (DFS) were determined by the Kaplan-Meier method,and survival comparison and univariate prognostic analysis were performed using the log-rank test.Results The median follow-up time was 46.7 months.There was no local recurrence detected among the patients.The 3-year distant metastasis (DM) rate was 18%,and the 3-year OS and DFS were 96% and 84%,respectively.Univariate analysis indicated that perineural invasion,N1-N2 pathology (pathological stage Ⅲ),and Ca-199>35 U/ml before treatment were risk factors for DM (P=0.000,0.000,and 0.013,respectively).Conclusions The significant short-term efficacy of preoperative sandwich-like neoadjuvant CRT can be extended to a positive mid-term survival in LARC patients.However,further phase Ⅲ clinical studies will be needed to confirm this finding.
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Objective To evaluate the impact of three to four cycles of neoadjuvant chemotherapy (NACT) on the survival of patients with N2-N3 nasopharyngeal carcinoma (NPC).Methods The clinical data of 915 patients with T1-4N2-3M0 NPC from 2007 to 2010 were retrospectively analyzed.A total of 179 patients treated with 3-4 cycles of NACT (NACT≥3 group) were matched with 358 patients treated with 2 cycles of NACT (NACT=2 group) and 179 patients treated without NACT (NACT =0 group,concurrent chemoradiotherapy group) for age,N stage,pathological subtype,and NACT regimen.The Kaplan-Meier method was used to calculate overall survival (OS),disease-free survival (DFS),recurrence-free survival (RFS),and distant metastasis-free survival (DMFS) rates,the log-rank test was used for survival difference analysis and univariate prognostic analysis,and the Cox proportional hazards model was used for multivariate prognostic analysis.Results For the NACT≥ 3,NACT =2,and NACT =0 groups,the 5-year OS rates were 89.4％,81.6％,and 73.7％,respectively (P=O.000),the 5-year DFS rates were 83.2％,69.8％,and 64.2％,respectively (P=O.000),the 5-year RFS rates were 86.0％,76.0％,and 69.3％,respectively (P=0.001),and the 5-year DMFS rates were 86.6％,76.0％,and 68.3％,respectively (P=0.000).Three to four cycles of NACT was an independent protective factor for OS,DFS,RFS,and DMFS in patients with N2-N3 NPC.Conclusion Three to four cycles of NACT can significantly improve the survival of patients with N2-N3 NPC.
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<p><b>OBJECTIVE</b>To compare the short-term efficacy and treatment-related adverse reaction between preoperative three dimensional conformal radiotherapy (3D-CRT) and volumetric modulated arc therapy (VMAT) concurrently combined with chemotherapy in the treatment of locally advanced rectal carcinoma (LARC).</p><p><b>METHODS</b>Clinical data of 334 patients with LARC undergoing preoperative 3D-CRT(172 cases) or VMAT(162 cases) with concurrent Xelox chemotherapy (main protocol: capecitabine plus oxaliplatin) and surgery in Sun Yat-sen University Cancer Center from May 2007 to April 2013 were retrospectively analyzed. The total radiation dose of VMAT group was: 50 Gy/2.0 Gy per fraction ×23 fractions for planning target volume 1(PTV1) and 46 Gy/1.84 Gy per fraction ×25 fractions for PTV2; the total radiation dose of 3D-CRT group was: 46 Gy/2.0 Gy per fraction ×23 fractions for PTV. The treatment-related adverse reaction of both groups during chemoradiotherapy was measured according to the criteria of Common Terminology Criteria for Adverse Events v3.0 (CTCAE 3.0). Rate of adverse reaction and short-term efficacy between 3D-CRT and VMAT group were compared, in terms of radiotherapy break, hematological and non-hematological toxicity, average duration of surgery and perioperative hospitalization, intraoperative blood loss, surgical procedures, R0 excision, sphincter preservation, postoperative complications, pathological complete response (pCR), and postoperative pathological staging.</p><p><b>RESULTS</b>There were no significant differences in baseline clinical parameters between 3D-CRT and VMAT group (all P>0.05), except for the distance from lower tumor margin to anal verge (P=0.009). The median radiation dose for all the patients was 46 (45 to 70) Gy. There was no significant difference in the rate of radiotherapy cessation between 3D-CRT and VMAT group [1.7%(3/172) vs. 1.2%(2/162), P=1.000]. During concurrent chemotherapy, incidences of grade 2 to 3 hematological toxicities, grade 2 diarrhea, and grade 3 non-hematological toxicities were not significantly different(all P>0.05), while in grade 2 non-hematological toxicities, ratio of radiodermatitis and hand-foot syndrome was higher in VMAT group as compared to 3D-CRT group [25.9%(42/162) vs. 10.5%(18/172), P=0.000; 3.7%(6/162) vs. 0, P=0.012]. There was no grade 4 adverse event in both groups. Surgical procedure, average duration of surgery, R0 excision, anus preservation, postoperative complications, pCR, and postoperative pathological staging were not significantly different(all P>0.05). As compared to 3D-CRT group, VMAT group had less intraoperative blood loss [(114.6±100) ml vs. (169±143.9) ml, P<0.001] and shorter perioperative hospitalization [16(8 to 84) d vs. 20(10 to 47) d, P<0.001]. There was no death case in two groups within 30 days after operation.</p><p><b>CONCLUSIONS</b>Compared with 3D-CRT technique, preoperative VMAT technique can not significantly reduce the incidence of treatment-related adverse reaction and improve the short-term efficacy in the treatment of LARC.</p>
Subject(s)
Female , Humans , Male , Middle Aged , Antineoplastic Combined Chemotherapy Protocols , Therapeutic Uses , Chemoradiotherapy , Deoxycytidine , Therapeutic Uses , Fluorouracil , Therapeutic Uses , Organoplatinum Compounds , Radiotherapy Dosage , Radiotherapy Planning, Computer-Assisted , Radiotherapy, Conformal , Radiotherapy, Intensity-Modulated , Rectal Neoplasms , Radiotherapy , Retrospective StudiesABSTRACT
Objective To evaluate the efficacy of chemoradiotherapy alone and prognostic factors for locally advanced rectal cancer. Methods The clinical data of 47 patients with locally advanced rectal cancer who were admitted to our hospital and mostly treated with chemoradiotherapy alone from 2003 to 2010 were retrospectively analyzed. Three of the patients received radiotherapy alone. The Kaplan?Meier method was used to estimate overall survival (OS), progression?free survival (PFS), and distant metastasis?free survival ( DMFS ) rates, and the log?rank test was used for survival difference analysis and univariate prognostic analysis. The Cox regression model was used for multivariate prognostic analysis. Results In all patients, the 3?and 5?year OS rates were 53?2% and 33?2%, respectively, while the 3?and 5?year PFS rates were 37% and 31%, respectively. During the follow?up, 15 patients (32%) had local progression with PFS of 1?60 months (median PFS, 14 months);23 patients (49%) had distant metastasis with DMFS of 2?60 months ( median DMFS, 17 months) . Patients treated with high?dose radiotherapy had significantly lower 3?and 5?year local progression rates than patients treated with medium?dose radiotherapy ( 11% vs. 54%;11%vs. 57%;P=0?004). After chemoradiotherapy, 9 patients (19%) had clinical complete response (cCR), and the 3?and 5?year OS and PFS rates in those patients were all 8/9. The univariate analysis indicated that tumor distance from the anus and cCR were influencing factors for prognosis ( P= 0?026;P= 0?000 ) . However, the multivariate analysis showed that cCR was the only influencing factor for survival ( HR=12?24;95% CI, 1?64 ?91?29;P= 0?015 ) . Conclusions Chemoradiotherpay or radiotherapy alone is effective and safe in the treatment of patients with locally advanced rectal cancer who have to give up surgery or have unresectable tumors. High?dose radiotherapy may improve local control rate. Complete response to chemoradiotherapy predicts satisfactory treatment outcomes.