Objective To report a pedigree with X?linked dominant protoporphyria(XLDPP), and to detect 5?aminolevulinic acid synthetase 2(ALAS2)gene mutations in this pedigree. Methods A clinical investigation was performed in a pedigree with XLDPP, and relevant data were collected from family members. A next?generation sequencing method was applied to screen possible mutation sites, and Sanger sequencing was performed to determine pathogenic gene mutations. Dermoscopy was conducted to observe skin lesions in the patients with XLDPP, and the Fotofinder system and very high frequency (VHF) ultrasound system were utilized to assess the severity of photodamage. Liver and gallbladder ultrasonography as well as blood examination were performed for all the family members. Results A deletion mutation, c.1706?1709ΔAGTG, was detected in the ALAS2 gene on the X chromosomes of all the patients in this family, which led to replacement or loss of 19-20 C?terminal residues through transcriptional frameshifting, and eventually caused an increase in ALAS2 activity. In the patients with XLDPP, skin photodamage was relatively severe;protoporphyrin?induced hepatobiliary damage was observed and aggravated with age;anemia and iron deficiency occurred sometimes. Conclusion The deletion mutation c.1706?1709ΔAGTG of the ALAS2 gene may be the underlying cause of XLDPP in this pedigree.

Objective:To evaluate the effectiveness of Minqing Ao dental desensitizer in the treatment of early childhood caries (ECC).Methods:41 0 teeth with ECC in 1 1 0 cases were divided into 3 groups.Minqing Ao dental desensitizer,fluoride toothpaste and ordinary toothpaste without fluoride were respectively used in group A,B and C.The laser fluorescence value(LFV)was meas-ured and compared before treatment,2,4,6 weeks and 6 months after treatment.Results:2 weeks after treatment,the LFV was not significantly changed in the 3 groups.4 weeks after treatment LFV in group A was decreased(P<0.01 ),the LFV in group A was lower than that in group B(P<0.05)and in group C(P<0.01 ).While there was no significant difference between group B and C(P>0.05).6 weeks after treatment LFV in group A and B was decreased(P<0.01 and P<0.05),there was significant difference be-tween each 2 groups(P<0.05).6 weeks and 6 months after treatment LFV in group A was lower than that in group B(P<0.01 ),and in group B was lower than that in group C(P<0.01 ).Conclusion:Minqing Ao is effective for treatment of early childhood caries.

Objective To observation the clinical effect of anesthesia combined with epidural block for patients with COPD surgery.Methods 262 cases with COPD needed to line the chest and abdominal surgery and urology surgery patients.Patients were divided into control group and observation group according to the time sequence,underwent general anesthesia and anesthesia combined with epidural anesthesia,contrast observed in patients with operative time,postoperative extubation time,wake time and the analgesic effect of anesthesia (VAS score) was measured in patients with FVC,FEV1/FVC and FEF25％ to 27％ lung function,clinical efficacy and complication rate of two anesthesia methods.Results The patients extubation time,recovery time and VAS scores were significantly lower than those of control group,the differences were statistically significant(all P ＜0.05).Group of postoperative patients with FVC,FEV1/FVC and FEF25％ to 27％,such as lung function test results were significantly better than those of control group,and the difference was statistically significant (all P ＜0.05).Anesthesia control group total effective rate of 87.0％ observed in patients anesthesia total effective rate was 96.9％.Compared with the control group,the anesthesia clinical effect of the observation group was statistically significant (P ＜0.05).Operative time and postoperative complication rate of the two groups of patients showed no significant difference(P ＞0.05).Conclusion Anesthesia combined with epidural anesthesia used in surgery in patients with COPD can effectively improve the clinical effects of anesthesia,to enhance the safety of anesthesia,which will help the rehabilitation of patients and worth of clinical practice.

Objective To investigate the value of 18 F-fluorodeoxyglucose FDG) positron emission tomography (PET)-computed tomography (CT) in predicting the progression-free survival (PFS)and overall survival (OS) of patients with esophageal squamous cell carcinoma (ESCC) after threedimensional (3D) radiotherapy.Methods A retrospective analysis was performed on 98 ESCC patients,who underwent FDG PET-CT before 3D radiotherapy from 2004 to 2010,to investigate their 1-,3-,and 5-year PFS and OS rates.The relationship of maximum standard uptake value (SUVmax),mean SUV (SUVmean),metabolic target volume (MTV),length of primary tumor on PET-CT before radiotherapy,and number of tumors on PET with PFS and OS were analyzed.The SUVs and clinical data were analysed by independent samples t-test or Hotelling T2 test; the Kaplan-Meier method was used for calculating PFS and OS rates,and the Logrank test was used for survival difference analysis;the prognostic factors were analysed using the Cox proportional hazard model.Results The follow-up rate was 100％ ;56 patients were followed up for at least 3 years,and 27 for at 5 years.The SUVmax SUVmean and MTV of primary tumor,length of primary tumor on PET-CT before radiotherapy,and number of tumors on PET were correlated with PFS and OS (x2 =8.99-41.82,all P ＜ 0.01).The Cox regression analysis showed that PFS could be well predicted based on SUVmean (x2 =4.41,P =0.036,RR =1.398) and number of tumors on PET (x2 =6.79,P =0.009,RR =3.650) and that OS could be well predicted based on number of tumors on PET (x2 =5.03,P =0.025,RR =3.740).Conclusions When estimating the long-term response to precise radiotherapy in patients with ESCC,SUV mean and number of tumors on PET may be used to predict PFS,and number of tumors on PET may be used to predict OS.

Objective To evaluate clinical factors as predictors of radiation pneumonitis(RP)in advanced stage non-small cell lung cancer(NSCLC)patients treated with concurrent radiochemotherapy when gross tumor volume is 70 Gy. Methods Data of 84 patients with histologically proved NSCLC treated with 3DCRT or IMRT were collected. To evaluate the correlation between clinical parameters and radiation pneumonitis(RP). The clinical parameters were considered: pathological type, therapy agents, age,gender, stage, karnofsky performance status(KPS), smoking status, diabetes, chronic obstructive pulmonary disease(COPD). Results The occurrence of grade 1,2 RP was 63%, 33%, respectively. In univariate analysis, diabetes was significantly associated with RP of ≥ grade 1(x2 =4.03, P = 0.045)and ≥grade 2(x2 = 15.59 ,P =0.000). KPS was significantly associated with RP of ≥grade 1(x2 =3.98 ,P = 0.046)and ≥grade 2(x2 = 5.21, P = 0.023). In logistic multivariate analysis, diabetes was significantly associated with RP of ≥grade 1(x2 =5.50,P =0.019)and ≥grade 2(x2 = 12.92,P =0.000). KPS was significantly associated with RP of ≥ grade 1(x2 = 6.29, P = 0.012)and ≥ grade 2(x2 = 6.61, P =0.010). Conclusion The definite statistical significant risk factors of RP are diabetes and KPS.

Objective To analyze relation of comprehensive parameters of the dose-volume V5,V10 and V20 with radiation pneumonitis (RP) in patients with advanced stage non-small-cell lung cancer (NSCLC) treated with three-dimensional conformal (3DCRT) or intensity-modulated radiation therapy (IMRT).Methods Data of 90 patients with histologically proved NSCLC treated with 3DCRT or IMRT between November 2006 and July 2009 were collected.The median radiation dose of 70 Gy (range, 61 - 80 Gy) was delivered with late-course accelerated hyperfractionated radiotherapy (LAHRT).The V5 ,V10 ,V20,V30 and mean lung dose (MLD) were calculated from the dose-volume histogram system.The RP was evaluated according to the common toxicity criteria 3.0(CTC 3.0).Results The range of V5 ,V10 and V20 was 36% - 98%, 27% - 78% and 19% - 54%, respectively, with a median value of 66%, 48% and 31%, respectively.The RP of grade 1,2,3,4 and 5 was observed in 29,23,5,1 and 1 patients.The V5,V10 ,V20, contralateral V10, GTV,PTV, and numbers of fields were all significantly associated with RP of ≥grade 1 (χ2=2.04, 2.05, 2.01, 4.62, 6.50, 5.61, 5.61, and P= 0.044, 0.043, 0.047, 0.030,0.010,0.020,0.020).The V5, V10, V20, V30, and MLD were all significantly associated with RP of ≥ grade 2 (χ2= 2.05,2.20,2.96,4.96,5.20, and P = 0.040,0.030,0.000,0.030,0.020).In Logistic regression analysis, GTV was the only factor significantly associated with RP of ≥ grade 1 (χ2= 4.06, P =0.044).The V20 was the only factor significantly associated with RP of ≥grade 2(χ2=9.61,P=0.002).The RP of ≥grade 2 was significantly increased when V20 was more than 31%.The RP of ≥grade 2 was significantly increased when V20, V10 and V5 were more than 31%, 48% and 66%, respectively.The RP of ≥ grade 2 was significantly increased when V20 was more than 31% and V5 was more than 66%.Conclusions The comprehensive parameters combined with V5, V10 and V20 are effective in predicting RP.

Objective To evaluate therapeutic effects and complications of concurrent three-dimensional conformal radiotherapy (3DCRT) and chemotherapy in patients with limited-stage small cell lung cancer (LSCLC).Methods From June 2000 to August 2005, 93 histologically proved LSCLC patients were randomized into two groups:3DCRT group (n =46) and conventional group (n =47).In both groups, patients received one cycle chemotherapy, followed by concurrent chemoradiotherapy and then received consolidate chemotherapy.Chemotherapy was four to six cycles of PE regimen.Conventional irradiation field was setup in conventional group, while in 3 DCRT group clinical target volume (CTV) only involved visible tumor and adjacent lymphatic region.Radiotherapy was delivered at 2 Gy per fraction, 5 fractions per week to a median total dose of 60 -64 Gy.Those who achieved a complete response were treated with prophylactic cranial irradiation (PCI) with 30 Gy in 10 fractions.Results The follow-up rate was 100% in both groups.The number of patients completed 1-, 2-and 3-year follow-up were 36, 34 and 16 in 3DCRT group, 14, 7 and 8 in conventional group, respectively.The complete and overall response rate were 52% and 89% in 3DCRT group, while 47% and 85% in conventional group, respectively.The 1-, 2-and 3-year survival rates were 78%, 35% and 15% in 3DCRT group, 72%, 30% and 17% in conventional group, respectively.The median survival time was 23.2 and 22.8 months, respectively.There was no statistical difference in short-term (Χ~2 = 0.34 ,P = O.759) and long-term outcomes (Χ~2 = 0.18 ,P = 0.92).In 3DCRT group, the incidence of grade 1 +2 acute radiation pneumonitis and esophagitis, grade 1 +2 and grade 3 chronic radiation pneumonitis were lower than those in conventional group.There was no grade 3 or 4 acute radiation pneumonitis or esophagitis, or grade 4 chronic radiation pneumonitis in both groups.There was no difference in grade 1 + 2, grade 3 or grade 4 acute myelo-suppression between the two groups.Conclusions In the treatment of LSCLC, concurrent 3DCRT and chemotherapy can achieve satisfactory short-term and long-term outcomes with acceptable complications.

Objective To analyze the low dose-volume associated with radiation-induced lung injury (RILI) in patients with advanced non-small cell lung cancer (NSCLC) treated by three-dimensional confor-real radiation therapy (3DCRT). Methods Data of 100 patients with histologically proved NSCLC treated with 3DCRT or IMRT between November 2006 and January 2009 were collected. Nine patients treated with radiotherapy alone and 91 with radiotherapy combined with chemotherapy. A median dose of 70 Gy (range,60-80 Gy) was delivered with late-course accelerated hyperfractionated radiotherapy (LAHRT). Twenty-four patients received dose of 61-69 Gy and 76 received more than 70 Gy. The V_5 ,V_(10) ,V_(20) ,V_(30)and mean lung dose (MLD) were calculated from the dose volume histogram system. The RILI was evaluated according to Common Toxicity Criteria 3.0(CTC 3.0). Results The range of V_5 ,V_(10) ,V_(20) ,V_(30) was 37%-98%,27%-78%, 17%-54% and 9%-31%, respectively, with a median value of 65%, 47.5%, 31% and 24%, respectively. The acute RILI of grade 1, 2, 3, 4 and 5 was observed in 34, 27, 8, 1 and 1 patients,respectively. The chronic RILI of grade 1, 2 and 3 was observed in 46, 14 and 2 patients, respectively. V_5 ,V_(10) ,V_(20) and MLD were significantly correlated with acute RILI of ≥ grade 1. V_5 ,V_(20) ,V_(30) and MLD were significantly correlated with acute RILI of ≥ grade 2. The acute RILI of ≥ grade 2 was significantly in-creased when V_5, V_(20) and V_(30) were more than 65%, 31% and 24%, respectively. The acute RILI of ≥ grade 3 was significantly increased when V_5 was more than 65%. The acute RILI of ≥ grade 1 was signifi-candy increased when V_(20)was more than 31%. The gross tumor volume and planning target volume were sig-nificantly correlated with the acute RILI of ≥ grade 1 and chronic RILI of ≥ grade 2. Conclusions The dose-volume V_5 and V_(10) are effective in predicting RILI.

Objective To compare the difference of decreasing radiation-induce lung injure among CT scans including active breathing control (ABC), slow CT scan and general axial CT scan under free breathing (FB) in precise radiotherapy of peripheral non-small cell lung cancer (NSCLC). Methods Ten patients of peripheral NSCLC were included. For each patient, three CT scans were obtained: (1) the general axial CT scans under FB;(2) the fast spiral CT scans under ABC;(3) the slow CT scans under FB. Three treatment plans based on three CT scans were optimized. Gross tumor volume (GTV), clinical target volume (CTV) and planning target volume (PTV) along with V20 (lung volume accepted > 20 Gy/all lung volume ×100%) and Dmean (average dosage accepted irradiation of all lung)of three treatment plans were calculated and compared. Results The GTV and CTV of the slow CT plan seem in largest, and those of ABC plan in smallest, but no statistics signification among the three plans (F = 1.513, P = 0.238;F = 1.376, P = 0.270). However, The PIV of the FB plan was largest, and the difference of PTV between plans of ABC and FB, plans of slow CT scans and FB were statistics significant (F = 26. 148, P = 0.000). The differences of V20 and Dmean between plans of FBand ABC, plans of FB and slow CT scans were statistics significant yet (F = 7.623, P = 0.002;F = 18.217, P = 0.000). Conclusion Compared with FB conditions, ABC or the slow CT scan method in precise radiotherapy of peripheral NSCLC can decrease radiation volume and dose to normal tissues as well as the probability of decreasing radiation-induce lung injure.

Objective To analyze the clinical outcome of concurrent ehemo-radiotherapy in stage Ⅳ non-small cell lung cancer(NSCLC).Methods From Jan.1997 to Dec.2006,214 patients with patho logically or cytologically proven stage Ⅳ NSCLC were included in this analysis.Of those patients,98 re ceived radiotherapy concurrently with 3-week cycle chemotherapy(group A),18 received radiotherapy con currently with weekly chemotherapy(group B) ,44 received chemotherapy alone,37 received radiotherapy a lone and 13 received sequential chemo-radiotherapy.The primary tumor was treated by three-dimensional conformal radiotherapy(3DCRT) or conventional radiotherapy with conventional fraefionation or late-course accelerated hyperfraction (LA H RT).Group A received 21-28 days cycle cisplatin-based chemotherapy (cis platin combined with PTX,DTY,NVB or Vp-16) ,and group B received weekly DDP combined with PTX or topteeon for 4-6 weeks.Results The follow-up rate was 99%.The 1-and 2-year overall survival rates of group A,group B,chemotherapy alone,radiotherapy alone and sequential chemo-radiotherapy were 41% and 11% ,16% and 0,31% and 7% ,34% and 10% ,26% and 3% ,respectively(x2 = 11.18,P=0.025).The patients with concurrent 3DCRT,LAHRT and radiotherapy dose≥70 Gy had better survival in group A than those in chemotherapy alone group.Patients who received≥2 cycles chemotherapy with concurrent radio therapy had longer survival time than those who had ≥2 cycles chemotherapy alone. Conclusions Con current chemotherapy and 3DCRT,LAHRT with the dose ≥70 Gy can improve the overall survival of patients with stage Ⅳ non-small cell lung cancer.