Objective To explore the related factors of tumor regression speed during radiotherapy for esophageal cancer and analyze the relationship between recent clinical curative effect and tumor regression speed.Methods 68 previously untreated esophageal cancer patients were treated with three dimensional conformal intensity modulated radiation therapy (3D-IMRT).The radiation dose was 64 Gy/32 times (95 ％ PTV).All the patients were divided into 3 groups according to the size of primary lesions during the entire course of radiotherapy.Fast regression was defined as a complete response before dose 32 Gy,slow regression with dose in the range of 64 Gy and other cases as residual disease.The correlations of tumor regression speed with age,gender,classification,length of lesion and the lesion location were analyzed.And the relationship between recent clinical curative effect and tumor regression speed was discussed.Results The age,gender,classification and the lesion location were not associated with tumor regression (P ＞ 0.05).There was a negative correlation between tumor regression speed and the length of lesion [88.9 ％ (16/18),69.2 ％ (18/26) and 12.5 ％ (3/24) in fast,slow and residual group,respectively,x2 =27.923,P ＜ 0.05].There was a positive correlation between recent clinical curative effect and tumor regression speed (r =0.415,P ＜ 0.05).Conclusion The length of primary lesion is an independent risk factor for recent clinical curative effect and tumor regression speed of esophageal cancer patients treated with 3D-IMRT.

Objective To investigate the correlation of pathology factors and prognosis of gastrointestinal stroma tumors (GIST). Methods The expression of CD117, CD34, SMA, S-100 and Ki-67 in 91 GIST cases were studied by Envision method of immunohistocbemistory;Sequently, the relationship of the location, the size, the hemorrhage, cellular necrosis, stroma mucus, the mitosis, Ki-67 expression and the prognosis were analyzed by SPSS 12.0. Results The positive rate of CD117, CD34, SMA, S-100 were 80.21%, 73.63 %, 34.07 %, 7.69 % respectively. There had significant difference between the location, the mitosis, Ki-67 expression and the prognosis; but no significant difference between the location, the hemorrhage, cellular necrosis, stroma mucus, CD117 expression and the prognosis. Conclusion The tumor's size, mitosis, and Ki-67 expression are associated with prognosis; CD117 expression and prognosis. Even more, Ki-67 expression may be a more precise factor to judge the tumor's biological behaviour compared to the mitosis. As a wally classified method, the Flecther classification is worth to spread.

Objecfive Most prostate cancer contains two or more widely separate turnors.To study the origin of prostate cancer based on the analysis of microsatellite alteration in separate tumors from the same prostate.Methods A polymerase chain reaction (PCR) was used to examine the allelic loss pattern of 4 microsatellite polymorphic markers on chromosome 8p (D8S133,D8S136,D8S137) and 17q (D17S855) in multifocal tumors of prostate from 19 patients.DNA samples were obtained from different regions of distinctly separate tumors on single case using microdissection technique.Results The overall frequence of LOH at D8S133,D8S136,D8S137 and D17S855 for all informative cases was 74%,38%,86% and 46%respectively in 40 separate tumors of prostate from 19 patients.The pattern of allelic loss was not identical in 15 of 18 (83%) informative cases. It showed that the different regions of prostate cancer were independent origin respectively.Discordant pattern of histology was observe in distantly separate regions.whereas the same allele was consistently lost in samples from different regions of the same tumor in 3 cases. Condusion Current data supports independent origin of multiple tumors in most prostate cancer patients.

Objective To study the clinical efficacy of sodium cantharidinate and vitamin B6 injection combined with concurrent chemoradiotherapy in treatment of locally advanced nasopharyngeal carcinoma (LA-NPC).Methods 115 patients with LA-NPC in Shanxi Cancer Hospital were randomly assigned to observation group (61 cases) and control group (54 cases) from February 2014 to April 2016.The patients in the observation group were treated with sodium cantharidate and vitamin B6 injection combined with concurrent chemoradiotherapy.The patients in the control group were treated with concurrent chemoradiotherapy.The differences between the two groups were compared in respect of recent curative effect,the quality of life (QOL) and the adverse reactions.Results The recent effective rate was 93.44 ％ (57/61) in the observation group and 79.63 ％ (43/54) in the control group,and there was significant difference between the two groups (x2 =4.818,P =0.049).The improvement rate of QOL was 73.77 ％ (45/61) in the observation group and 53.70 ％ (29/54) in the control group,and there was significant difference between the two groups (x2 =5.028,P =0.032).The incidence rates of oral cavity mucous membrane inflammation,hematology toxicity,pharynx and esophagus adverse reactions,the gastrointestinal tract adverse reactions and skin fibrosis in the observation group were lower than those in the control group,and there were significant differences between the two groups (all P ＜ 0.05).Conclusion The recent effect of sodium cantharidinate and vitamin B6 injection combined with concurrent chemoradiotherapy on the patients with LA-NPC is obvious.The comprehensive treatment can also reduce adverse reactions and improve the QOL.

Objective To study genotypes in nonsyndromic hearing loss (NSHL ) patients from Guangxi Zhuang Autonomous Region hearing speech rehabilitation center using DNA microarray in combination with Sanger sequencing .Methods Deaf patients received routine physical and otorhinolaryngoloical examinations as well as pure tone autiometry .Brainstem auditory evoked potential test was performed in uncooperative children .Blood samples were obtained from a total of 136 patients ,male 81 ,female 55 ,age from one year five month to seventeen ,having nonsyndromic hearing loss .Genomic DNA was extracted and then 9 hot mutation spots in 4 susceptibility genes were detected by DNA microarray .GJB2 and SLC26A was further detected by Sanger sequencing in the patients with negative results and heterozygotes .Results Among the 136 patients with nonsyndromic hearing loss ,20 cases were positive for GJB2 gene ,SLC26A4 gene or mitochondrial 12SrRNA gene mutations .There were 14 .71% (20/136)patients were positive for hot mutation spots in the deafness related genes ,25% (34/136)patients carried muta‐tions of deafness related genes using DNA microarray in combination with Sanger sequencing .Six SLC26A4 rare mutations (c .259G> T ,c .754C> T ,c .1229C> T ,c .1548_1549insC ,c .1705+5A>G and c .2086C> T) were de‐tected by Sanger sequencing .c .235delC was the most common mutation in GJB2 gene .c .919-2A>G ,c .754C> T and c .1229C> T were the common mutations in SLC26A4 gene .The mutation rate of GJB2 and SLC26A4 was 38 . 24% .and 58 .82% ,respectively .Conclusion Prevalent deafness-associated gene mutations in the nine loci studied were less frequently detected in nonsyndromic hearing loss patients from Guangxi Zhuang Autonomous Region hear‐ing speech rehabilitation center .It can improve the detection rate of deafness gene mutations by using gene microar‐ray in combination with Sanger sequencing .GJB2 and SLC26A4 are the common causative genes .

OBJECTIVE: To explore the molecular pathogenesis for a pedigree affected with hypocalcemia secondary to hypomagnesemia. METHODS: Sanger sequencing was used to detect potential variant of the TRPM6 gene in the patient and their parents. RESULTS: The results showed that the patient has carried novel homozygous c.3311C>T (p.Pro1104Leu) variant of the TRMP6 gene, for which both of his parents were heterozygous carriers. Analysis of protein functions using software predicted high risk of pathogenicity. CONCLUSION The homozygous c.3311C>T (p.Pro1104Leu) variant of the TRPM6 gene probably underlies the disease in this patient.
Heterozygote ; Humans ; Hypocalcemia ; genetics ; Magnesium ; Magnesium Deficiency ; genetics ; Male ; Pedigree ; TRPM Cation Channels ; genetics

Objective: To analyze variations of TYR and P genes among 14 patients with clinically diagnosed oculocutaneous albinism. Methods: Potential variations of the TYR and P genes were detected by Sanger sequencing. Novel variations were predicted with bioinformatics software including SIFT and PolyPhen-2. Results: No variation was found in the TYR gene, while 9 types of variations were found in the P gene among the 14 patients, which included c. 803-3C>G (7/26), c. 1327G>A (p.Val443Ile) (5/26), c. 632C>T (p.Pro211Leu) (4/26), c. 1832T>C (p.Leu611Pro) (3/26), c. 1349C>A (p.Thr450Lys) (2/26), c. 2363C>T (p.Ser788Leu) (2/26), c. 2228C>T (p.Pro743Leu) (1/26), c. 1525A>G(p.Thr509Ala) (1/26), and c. 1349C>T(p.Thr450Met) (1/26). Only 1 heterozygous variation was detected in 2 families. c. 2363C>T (p.Ser788Leu), c. 1832T>C (p.Leu611Pro) and c. 1525A>G (p.Thr509Ala) were not reported previously and predicted as "harmful" to the protein function. Conclusion The main type of ocular albinism is oculocutaneous albinism type Ⅱ in Liuzhou region, where the most common variations of the P gene were c. 803-3C>G and c. 1327G>A (p.Val443Ile). Above finding has enriched the variation spectrum of the P gene.

OBJECTIVE: To identify potential mutation in a child clinically diagnosed as Noonan syndrome and to provide genetic counseling and prenatal diagnosis for his family. METHODS: Genomic DNA was extracted from peripheral blood samples of the patient and his parents, and amniotic fluid was taken from the mother during the second trimester. Next generation sequencing (NGS) was used to screen potential mutations from genomic DNA. Suspected mutation was verified by Sanger sequencing. RESULTS: A heterozygous c.4A>G (p.Ser2Gly) mutation of the SHOC2 gene was identified in the patient but not among other family members including the fetus. CONCLUSION The Noonan syndrome is probably caused by the c.4A>G mutation of the SHOC2 gene. NGS is helpful for the diagnosis of complicated genetic diseases. SHOC2 gene mutation screening is recommended for patient suspected for Noonan syndrome.
Child ; Female ; Genetic Testing ; High-Throughput Nucleotide Sequencing ; Humans ; Intracellular Signaling Peptides and Proteins ; Mutation ; Noonan Syndrome ; Pregnancy ; Prenatal Diagnosis

OBJECTIVE: To carry out mutation analysis and prenatal diagnosis for a family affected with primary carnitine deficiency. METHODS: Genomic DNA of the proband was extracted from peripheral blood sample 10 days after birth. The 10 exons and intron/exon boundaries of the SLC22A5 gene were subjected to PCR amplification and Sanger sequencing. The proband's mother was pregnant again two years after his birth. Fetal DNA was extracted from amniocytes and subjected to PCR and Sanger sequencing. RESULTS: Tandem mass spectrometric analysis of the proband revealed low level of plasma-free carnitine whilst organic acids in urine was normal. Compound heterozygous SLC22A5 mutations c.1195C>T (inherited from his father) and c.517delC (inherited from his mother) were detected in the proband. Prenatal diagnosis has detected no mutation in the fetus. The plasma-free carnitine was normal after birth. CONCLUSION Appropriate genetic testing and prenatal diagnosis can prevent further child with carnitine deficiency. The identification of c.517delC, a novel mutation, enriched the spectrum of SLC22A5 mutations.
Cardiomyopathies ; genetics ; Carnitine ; deficiency ; genetics ; Child, Preschool ; DNA Mutational Analysis ; Female ; Humans ; Hyperammonemia ; genetics ; Muscular Diseases ; genetics ; Mutation ; Pregnancy ; Prenatal Diagnosis ; Solute Carrier Family 22 Member 5 ; genetics

Objective:To explore the clinical value of the geriatric potentially inappropriate medication(PIM)evaluation system in elderly inpatients.Methods:As a prospective cohort study, 203 elderly inpatients with polypharmacy were randomly divided into the control group and experimental group.Geriatric PIM evaluation system(based on the criteria for judging potential inappropriate drug use in Chinese elderly 2017 edition)on wechat platform was applied to patients of experimental group.During the 6 months, the number of elderly syndromes, types of drugs, the days in hospitalization, readmission rates and all-cause mortality were compared between two groups.Results:The age of 203 elderly inpatients ranged from 60 to 94(77.30±10.34)years, including 121 males and 82 females.The morbidity proportion of top five diseases were 69.95%(142/203)in cerebral infarction(non-acute phase), 62.07%(126/203)in hypertension, 24.14%(49/203)in coronary heart disease, 9.85%(20/203)in atrial fibrillation, and 6.40%(13/203)in cardiac insufficiency.The 97.53%(198/203)of elderly hospitalized patients had at least one senile syndrome, the average was 4.3±2.0.Insomnia, fall and frailty accounted for 32.87%(15/198), 28.45%(56/198)and 13.66%(27/198)respectively.Compared with the control group, the average length of stay in hospital in the experimental group significantly decreased[(16.38±4.29) vs.(21.32±6.10)d, t=2.438、 P=0.025], the number of senile syndrome, the score of fall, weakness and the re-admission rate were also decreased significantly(3.11±2.14 vs.4.32±1.50, t=0.854、 P=0.032; 6.19±1.35 vs.8.61±3.22, t=4.078、 P=0.044; 3.94±1.92 vs.5.65±1.34, t=2.843、 P=0.038; 9.81%(10/102) vs.1.98%(2/101), χ2=4.772、 P=0.029), and the frequency of PIM was significantly different between two groups(417.36±49.21 vs.210.25±38.23, t=2.136、 P=0.034). Conclusions:After making the drug adjustment on the elderly inpatients with multiple drugs, PIM evaluation system for the elderly are able to reduce the incidence of geriatric syndrome, shorten the length of stay in hospital, improve the rational use of drugs, and enhance the quality of life of the elderly patients.