Effects of gene polymorphism on efficacy and toxic effect of chemotherapy regimen containing oxaliplatin treatment in stage Ⅲ and Ⅳ colorectal cancer / 中国药房

OBJECTIVE To investigate the effects of GSTP1， XRCC1， ABCB1， MTHFR gene polymorphisms on efficacy and toxic effect of chemotherapy regimen containing oxaliplatin in patients with stage Ⅲ and Ⅳ colorectal cancer patients. METHODS Clinical data of 76 patients with stage Ⅲ and Ⅳ colorectal cancer who received chemotherapy regimen containing oxaliplatin （XELOX，FOLFOX） were collected from the Second Affiliated Hospital of Soochow University from September 2018 to March 2020. The correlation of genotypes with progression-free survival （PFS） and toxic effect was analyzed by using univariate and multivariate COX regression model. RESULTS Carriers of the ABCB1 3435T＞C locus C allele （TC/CC） had a significantly higher risk of progression compared to TT genotype patients [HR＝2.39， 95%CI （1.05，5.50）， P＝0.038]. The risk of progression in patients at stage Ⅳ was significantly higher than those at stage Ⅲ [HR＝8.11， 95%CI（3.39，19.40）， P＜0.001]. Chemotherapy regimen， Karnofsky performance status score and tumor site had no significant effect on disease progression （P＞0.05）. Mutations in gene loci were not correlated with adverse reactions （P＞0.05）. CONCLUSIONS Patients carrying ABCB1 TC/CC and receiving chemotherapy regimen containing oxaliplatin have a higher risk of disease progression， which may be associated with longer PFS in patients （TT genotype） with stage Ⅳ colorectal cancer receiving the chemotherapy， while GSTP1， XRCC1， and MTHFR gene polymorphisms have no significant impact.

Diagnosis of two cases from one family with Joubert syndrome caused by novel mutations of TCTN1 gene by whole exome sequencing / 中华医学遗传学杂志

OBJECTIVE@#To explore the pathogenesis of two fetuses from one family affected with Joubert syndrome (JS).@*METHODS@#Whole exome sequencing was employed to screen potential mutations in both fetuses. Suspected mutations were verified by Sanger sequencing. Impact of intronic mutations on DNA transcription was validated by cDNA analysis.@*RESULTS@#Two novel TCTN1 mutations, c.342-8A>G and c.1494+1G>A, were identified in exons 2 and 12, respectively.cDNA analysis confirmed the pathogenic nature of both mutations with interference of normal splicing resulting in production of truncated proteins.@*CONCLUSION@#The genetic etiology of the family affected with JS has been identified.Above findings have enriched the mutation spectrum of TCTN1gene and facilitated understanding of the genotype-phenotype correlation of JS.

Virtual touch tissue imaging quantification in evaluation of rehabilitation effect in children with spastic cerebral palsy / 中国医学影像技术

Objective: To explore the value of virtual touch tissue imaging quantification (VTIQ) in evaluation of rehabilitation effect of children with spastic cerebral palsy. Methods: Forty spastic children were randomly divided into 2 groups (each n=20). Children treated with rehabilitation training and botulinum toxin A (BTA) injection were assigned into BTA group, while those treated with rehabilitation training, BTA injection and extracorporeal shock wave therapy (ESWT) were assigned into BTA+ESWT group. The modified Ashworth scale (MAS) and shear wave velocity (SWV) using VTIQ were assessed before treatment and 1 week, 4 weeks, 12 weeks and 16 weeks after treatment. Results: There were total significant differences in MAS scores and SWV before and after treatment in both 2 groups (all P<0.01). Compared with those before treatment, MAS score and SWV in BTA group decreased to the lowest 4 weeks after treatment (both P<0.05), while MAS score and SWV in BTA+ESWT group significantly decreased 1 week after treatment (both P<0.05). With time going after treatment, MAS scores and SWV in both groups increased gradually, but the differences were still statistically significant compared with those before treatment (all P<0.05). Conclusion: VTIQ can objectively and quantitatively evaluate the hardness of spastic muscles, therefore can be used as an effective method for evaluation rehabilitation treatment of children with spastic cerebral palsy.

Practice of Clinical Pharmacists Participating in One Case of Allergic Reactions Induced by Oxaliplatin / 中国药师

According to the mechanism , reasons, clinical characteristics and treatment principle of oxaliplatin-induced allergic re-actions ( DHRs) and combined with the specific situation of the patient , clinical pharmacists provided suggestions for the reuse of oxali-platin in one case of DHRs patient .The causes of allergic reactions were confirmed through the analysis , and the comprehensive drug prevention and pretreatment and pharmaceutical care were provided for doctors resulting in successful completion of oxaliplatin chemo -therapy without drug withdrawal .

Analysis of AGG interspersion of the FMR1 gene in fragile X syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze (CGG)n repeats sequence and AGG interspersion correlated with unstable expansion of FMR1 gene in a general Chinese population.</p><p><b>METHODS</b>AmplideX FMR1 PCR Kit was used to amplify 380 X chromosomes from randomly selected 176 males and 102 females, 11 permutation carriers and 10 full mutation patients have served as controls. Results of capillary electrophoresis were analyzed with GeneMapper software Version 4.0. SPSS 11.0 software was used for statistical analysis.</p><p><b>RESULTS</b>The ratio of heterozygous females was 64.70%. The number of alleles in general males and females was 15 and 14, the classes of AGG pattern was 26 and 27, respectively. The range of alleles was between 17 to 45 CGG repeats in males and 21 to 44 CGG repeats in females, and 1 male was identified as gray zone carrier. The most frequent allele was 29 CGG repeats, which was followed by 30 and 36 repeats, while 28 CGG repeats were absent. The most common AGG pattern was 9A9A9, 99.21% of the population was detected with different forms and numbers of AGG interruption, and 6A interruption pattern was found in 10.02% samples especially in individuals with more CGG repeats. However, 57.58% of control samples had no AGG interruption, and none of the controls had 6A interruption pattern. No significant difference was observed in allele frequent distribution of (CGG)n repeats and AGG interspersion patterns between the males and females (P > 0.05), and AGGs was significantly different between general population and controls (P < 0.05).</p><p><b>CONCLUSION</b>AGGs and AGG pattern may have important roles in maintaining (CGG)n stability in general population of China, 9A9A6A9 may be a special pattern for preventing (CGG)n unstable expansion in Asian populations.</p>

Impact of diabetes mellitus on clinicopathological factors and relation with radiation pneumonitis in 332 patients with lung cancer / 中南大学学报(医学版)

OBJECTIVE@#To explore the relation between diabetes mellitus and clinicopathological factors and the incidence of radiation pneumonitis in patients with non-small cell lung cancer.@*METHODS@#The data of 332 patients with non-small cell lung cancer, who were admitted to the Department of Oncology of Third Xiangya Hospital of Central South University between January 2007 and August 2009, were collected retrospectively. The patients were divided into a diabetes mellitus (DM) group (n=45) and a non-diabetes mellitus (NDM) group (n=287). The clinicopathological factors were compared between the two groups. The patients who received radiotherapy were further divided into a diabetes mellitus (DMR) group (n=33) and a non-diabetes mellitus group (NDMR) group(n=287), and the incidence of radiation pneumonitis was compared.@*RESULTS@#A total of 45 patients (13.55%)developed diabetes mellitus. There was significant difference in the body-weight, age and hypertension (P0.05). No significant difference in the irradiation area was found between the DM group and the NDM group(P>0.05). The incidence of radiation pneumonitis in the DMR group was 42.42%(14 out of 33), while 21.31%(39 out of 183) in the NDMR group, with significant difference in the incidence of radiation pneumonitis between the DMR group and the NDMR group(P<0.05). The risk value in the DMR group was 2.721 folds (95%CI, 1.253-5.910) that in the NDMR group in patients with non-small cell lung cancer companied with diabetes mellitus.@*CONCLUSION@#Diabetes mellitus is the risk factor of radiation pneumonitis for patients with nonsmall cell lung cancer who receive radiotherapy.

Application of Acupuncture in Stroke Unit: An Effect and Cost-effectiveness Analysis / 中国康复理论与实践

@#Objective To observe the effects of acupuncture on stroke in stroke unit, and its cost-effectiveness. Methods60 patients were divided into control group (n=30) and treatment group (n=30). All the patients were treated with structural therapy known as stroke unit, and the treatment group accepted acupuncture in addition. They were assessed with National Institutes of Health Stroke scale (NIHSS) and Barthel Index (BI) before, 15 d and 30 d after treatment. Their expenses for hospital were investigated. ResultsThe scores of NIHSS and BI improved in the treatment group compared with those in control group (P<0.05) 15 d and 30 d after treatment. The average cost for a score improved in both NIHSS and BI was less in the treatment group than in the control group (P<0.05). ConclusionThe acupuncture applied in stroke unit is effective and economical for stroke patients.

Evaluation of left ventricular function with velocity vector imaging in uremic patients / 中华超声影像学杂志

Objective To assess the left ventricular(LV)segmental function by velocity vector imaging(VVI)in uremic patients with diffferent quantity of parathyroid hormone(PTH).Methods Sixty patients with uremia were divided into 2 groups according to the value of PTH:group A with PTH less than 3 times of upper normal limit,group B with PTH more than 3 times of upper normal limit.Normal control group was 30 healthy subj ects.All people were evaluated by VVI.The parameters,including the longitudinal systolic strain rate(SSR),diastolic strain rate(DSR),were analysed among the three groups.Results Compared with normal group,in group A and B,SSR,DSR in all segments were lower.Compared with group A,in group B,DSR were all significantly lower(P＜0.05),SSR in apex of laternal wall,medium of anterior septum wall,posterior wall,medium and apex of posterior septum wall and superior wall,base,medium and apex of anterior wall were significantly lower(P＜0.05).There was no statistically significant difference of left ventricular ejection fraction between the two groups(P＞0.05).Conclusions VVI is a viable objective tool to quantitatively assess LV segmental function damaged by different quantity of PTH.