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Anaplastic lymphoma kinase (ALK) is the most common fusion gene involved in non-small cell lung cancer (NSCLC), and remarkable response has been achieved with the use of ALK tyrosine kinase inhibitors (ALK-TKIs). However, the clinical efficacy is highly variable. Pre-existing intratumoral heterogeneity (ITH) has been proven to contribute to the poor treatment response and the resistance to targeted therapies. In this work, we investigated whether the variant allele frequencies (VAFs) of ALK fusions can help assess ITH and predict targeted therapy efficacy. Through the application of next-generation sequencing (NGS), 7.2% (326/4548) of patients were detected to be ALK positive. On the basis of the adjusted VAF (adjVAF, VAF normalization for tumor purity) of four different threshold values (adjVAF < 50%, 40%, 30%, or 20%), the association of ALK subclonality with crizotinib efficacy was assessed. Nonetheless, no statistical association was observed between median progression-free survival (PFS) and ALK subclonality assessed by adjVAF, and a poor correlation of adjVAF with PFS was found among the 85 patients who received first-line crizotinib. Results suggest that the ALK VAF determined by hybrid capture-based NGS is probably unreliable for ITH assessment and targeted therapy efficacy prediction in NSCLC.
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Humans , Carcinoma, Non-Small-Cell Lung/pathology , Anaplastic Lymphoma Kinase/therapeutic use , Crizotinib/therapeutic use , Lung Neoplasms/pathology , Protein Kinase Inhibitors/pharmacology , Gene FrequencyABSTRACT
Nucleic acids in plant tissue lysates can be captured quickly by a cellulose filter paper and prepared for amplification after a quick purification. In this study, a published filter paper strip method was modified by sticking the filter paper on a polyvinyl chloride resin (PVC) sheet. This modified method is named EZ-D, for EASY DNA extraction. Compared with the original cetyl trimethylammonium bromide (CTAB) method, DNA extracted by EZ-D is more efficient in polymerase chain reaction (PCR) amplification due to the more stable performance of the EZ-D stick. The EZ-D method is also faster, easier, and cheaper. PCR analyses showed that DNA extracted from several types of plant tissues by EZ-D was appropriate for specific identification of biological samples. A regular PCR reaction can detect the EZ-D-extracted DNA template at concentration as low as 0.1 ng/μL. Evaluation of the EZ-D showed that DNA extracts could be successfully amplified by PCR reaction for DNA fragments up to 3000 bp in length and up to 80% in GC content. EZ-D was successfully used for DNA extraction from a variety of plant species and plant tissues. Moreover, when EZ-D was combined with the loop-mediated isothermal amplification (LAMP) method, DNA identification of biological samples could be achieved without the need for specialized equipment. As an optimized DNA purification method, EZ-D shows great advantages in application and can be used widely in laboratories where equipment is limited and rapid results are required.
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Objective@#To analyze the clinicopathological features and differential diagnosis of interdigitating dendritic cell sarcoma (IDCS).@*Methods@#The clinical pathological features of 7 IDCS were analyzed. Among them, the follow-up results of 6 cases were available.@*Results@#Among the 7 IDCS patients, 4 cases were male and 3 were female. The age of the patients ranged from 26 to 69 years.Three cases were originated from lymph nodes and 4 cases were originated from skin, stomach, adrenal gland and mesentery, respectively. Microscopically, the tumor cells presented as fascicular and storiform proliferation and infiltrated by lymphocytes. The tumor cells were short-spindle or ovoid, with indistinct border of cytoplasm. The immunohistochemistry results showed that tumor cells were S-100, Vim, CD68 and CD163 positive, and AE1/AE3, EMA, CD117, CD34, Desmin, SMA, CD1α, CD21, CD23, CD35, HMB45, Melan-A, MelanPan and ALK negative.The BRAF mutation and clonal rearrangement of T and B cells were not detected. Among the follow-up period of 7 IDCS patients, 3 occurred disease progressions.@*Conclusions@#IDCS is extremely rare with unique pathological features, and its lesion is not limited to the lymph node. The IDCS patients with extensive lesions may have worse prognose. The differential diagnosis of IDCS includes other histiocytic and dendritic cell neoplasms, malignant melanoma and soft tissue neoplasms.
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Background@#The development of auditory and speech perception ability of children with hearing loss is affected by many factors after they undergo cochlear implantation (CI). Age at CI (CI age) appears to play an important role among these factors. This study aimed to evaluate the development of auditory and speech perception ability and explore the impact of CI age on children with prelingual deafness present before 3 years of age.@*Methods@#Two hundred and seventy-eight children with pre-lingual deafness (176 boys and 102 girls) were included in this study, and the CI age ranged from 6 to 36 months (mean age, 19 months). Categorical auditory performance (CAP) was assessed to evaluate auditory ability, and the speech intelligibility rating was used to evaluate speech intelligibility. The evaluations were performed before CI and 1, 3, 6, 12, 18, 24, 36, 48, and 60 months after CI.@*Results@#The auditory ability of the pre-lingually hearing-impaired children showed the fastest development within 6 months after CI (k = 0.524, t = 30.992, P < 0.05); then, the progress started to decelerate (k = 0.14, t = 3.704, P < 0.05) and entered a plateau at the 24th month (k = 0.03, t = 1.908, P < 0.05). Speech intelligibility showed the fastest improvement between the 12th and 24th months after CI (k = 0.138, t = 5.365, P < 0.05); then, the progress started to decelerate (k = 0.026, t = 1.465, P < 0.05) and entered a plateau at the 48th month (k = 0.012, t = 1.542, P < 0.05). The CI age had no statistical significant effect on the auditory and speech abilities starting at 2 years after CI (P < 0.05). The optimal cutoff age for CI was 15 months.@*Conclusions@#Within 5 years after CI, the auditory and speech ability of young hearing-impaired children continuously improved, although speech development lagged behind that of hearing. An earlier CI age is recommended; the optimal cutoff age for CI is at 15 months.
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Objective@#To investigate the quantitative evaluation efficiency of gadolinium- ethoxybenzyl-diethylenetriamine pentaacetic acid (Gd-EOB-DTPA) enhanced T1 mapping in staging hepatic fibrosis caused by viral hepatitis B.@*Methods@#One hundred and fifty patients with chronic hepatitis B were prospectively enrolled in Shanghai Public Health Clinical Center, Fudan University from August 2016 to August 2018.These patients underwent liver aspiration biopsy were divided into four subgroups: S1 (n=38), S2 (n=30), S3 (n=33), S4 (n=49) according to Scheuer-Ludwig scoring system. Non-enhanced and Gd-EOB-DTPA-enhanced MRI were performed in all subjects. Look-Locker sequences were performed to acquire T1 mapping of pre and post-contrast at 20 minutes after Gd-EOB-DTPA administration. The T1 value after 20 minutes of Gd-EOB-DTPA administration (T1 20 min), the reduction rate of T1 value (ΔT1 20 min%), the increase of 1/T1 value (ΔR1 20 min%) were measured and calculated. The one-way ANOVA was applied to compare the difference in T1 20 min, ΔT1 20 min%, ΔR1 20 min% of various fibrosis stages. ROC curves were used to assess the efficacy of T1 20 min, ΔT1 20 min%, ΔR1 20 min% for diagnosing ≥ S2, ≥ S3, ≥ S4. P<0.05 was considered to be statistically significant.@*Results@#The T1 20 min raised with fibrosis stage increased, ΔT1 20 min% and ΔR1 20 min% reduced with fibrosis stage increased. Areas under the curves of T1 20 min, ΔT1 20 min%, ΔR1 20 min% for diagnosing ≥ S2 were 0.844, 0.905, 0.869; and diagnosing ≥ S3 were 0.832, 0.907, 0.862; and diagnosing ≥ S4 were 0.853, 0.897, 0.873, respectively. The diagnostic efficiency of ΔT1 20 min% was the best.@*Conclusion@#Gd-EOB-DTPA-enhanced T1 mapping could be regarded as a reliable diagnostic tool for the evaluation of hepatic fibrosis caused by viral hepatitis B.
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Objective@#To compare the effects of various interventions on the incidence of central line-associated bloodstream infection (CLABSI) .@*Methods@#The clinical data of 218 patients with central venous catheterization were retrospectively analyzed. Infected patients were treated as CLABSI group and non-infected patients as control group.@*Results@#Of the 218 patients, 24 patients were developed CLABSI. There was no significant difference in sex, age, primary infection status and puncture site between CLABSI group and control group. Univariate analysis showed that axillary vein puncture could significantly reduce the incidence of CLABSI (P=0.028), and the infection rate of axillary vein puncture per 1000 days under B-ultrasound was significantly reduced by 0.93‰. The average indwelling days of deep venous catheter in patients with pulse puncture were significantly longer than those in other groups (47.32 days vs 19.90 days). The average indwelling days in patients with axillary vein puncture positioned by B ultrasound were longer than those in patients with other parts of vein puncture positioned by B ultrasound (P < 0.05). Logistic multiple regression analysis showed that the main risk factors for CLABSI were anatomically located puncture (P = 0.031) and non-axillary venous catheterization (P = 0.068).@*Conclusions@#Choosing axillary vein as the position of deep venous catheterization and using ultrasound-guided central venous puncture can reduce the incidence of CLABSI and prolong the average catheterization time.
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Objective To compare the effects of various interventions on the incidence of central line-associated bloodstream infection (CLABSI).Methods The clinical data of 218 patients with central venous catheterization were retrospectively analyzed.Infected patients were treated as CLABSI group and non-infected patients as control group.Results Of the 218 patients,24 patients were developed CLABSI.There was no significant difference in sex,age,primary infection status and puncture site between CLABSI group and control group.Univariate analysis showed that axillary vein puncture could significantly reduce the incidence of CLABSI (P=0.028),and the infection rate of axillary vein puncture per 1000 days under B-ultrasound was significantly reduced by 0.93‰.The average indwelling days of deep venous catheter in patients with pulse puncture were significantly longer than those in other groups (47.32 days vs 19.90 days).The average indwelling days in patients with axillary vein puncture positioned by B ultrasound were longer than those in patients with other parts of vein puncture positioned by B ultrasound (P ＜ 0.05).Logistic multiple regression analysis showed that the main risk factors for CLABSI were anatomically located puncture (P =0.031) and non-axillary venous catheterization (P =0.068).Conclusions Choosing axillary vein as the position of deep venous catheterization and using ultrasound-guided central venous puncture can reduce the incidence of CLABSI and prolong the average catheterization time.
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Objective To investigate the quantitative evaluation efficiency of gadolinium?ethoxybenzyl?diethylenetriamine pentaacetic acid (Gd?EOB?DTPA) enhanced T1 mapping in staging hepatic fibrosis caused by viral hepatitis B. Methods One hundred and fifty patients with chronic hepatitis B were prospectively enrolled in Shanghai Public Health Clinical Center, Fudan University from August 2016 to August 2018.These patients underwent liver aspiration biopsy were divided into four subgroups: S1 (n=38), S2 (n=30), S3 (n=33), S4 (n=49) according to Scheuer?Ludwig scoring system. Non?enhanced and Gd?EOB?DTPA?enhanced MRI were performed in all subjects. Look?Locker sequences were performed to acquire T1 mapping of pre and post?contrast at 20 minutes after Gd?EOB?DTPA administration. The T1 value after 20 minutes of Gd?EOB?DTPA administration (T1 20 min), the reduction rate of T1 value (ΔT1 20 min% ), the increase of 1/T1 value (ΔR1 20 min% ) were measured and calculated. The one?way ANOVA was applied to compare the difference in T1 20 min, ΔT1 20 min%, ΔR1 20 min% of various fibrosis stages. ROC curves were used to assess the efficacy of T1 20 min, ΔT1 20 min%, ΔR1 20 min% for diagnosing≥S2,≥S3,≥S4. P<0.05 was considered to be statistically significant. Results The T1 20 min raised with fibrosis stage increased, ΔT1 20 min% and ΔR1 20 min% reduced with fibrosis stage increased. Areas under the curves of T1 20 min, ΔT1 20 min%, ΔR1 20 min% for diagnosing≥S2 were 0.844, 0.905, 0.869; and diagnosing≥S3 were 0.832, 0.907, 0.862; and diagnosing≥S4 were 0.853, 0.897, 0.873, respectively. The diagnostic efficiency of ΔT1 20 min% was the best. Conclusion Gd?EOB?DTPA?enhanced T1 mapping could be regarded as a reliable diagnostic tool for the evaluation of hepatic fibrosis caused by viral hepatitis B.
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BACKGROUND@#The development of auditory and speech perception ability of children with hearing loss is affected by many factors after they undergo cochlear implantation (CI). Age at CI (CI age) appears to play an important role among these factors. This study aimed to evaluate the development of auditory and speech perception ability and explore the impact of CI age on children with pre-lingual deafness present before 3 years of age.@*METHODS@#Two hundred and seventy-eight children with pre-lingual deafness (176 boys and 102 girls) were included in this study, and the CI age ranged from 6 to 36 months (mean age, 19 months). Categorical auditory performance (CAP) was assessed to evaluate auditory ability, and the speech intelligibility rating was used to evaluate speech intelligibility. The evaluations were performed before CI and 1, 3, 6, 12, 18, 24, 36, 48, and 60 months after CI.@*RESULTS@#The auditory ability of the pre-lingually hearing-impaired children showed the fastest development within 6 months after CI (k = 0.524, t = 30.992, P 0.05). The optimal cutoff age for CI was 15 months.@*CONCLUSIONS@#Within 5 years after CI, the auditory and speech ability of young hearing-impaired children continuously improved, although speech development lagged behind that of hearing. An earlier CI age is recommended; the optimal cutoff age for CI is at 15 months.
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Objective To explore the effects of curcumin on pro-inflammatory factors in the lung microvascular endothelial cells (LMVEC) model stimulated by thrombus. Methods The LMVECs were divided into six groups according to the random number table method. No treatment was given to the blank control group ; the model group was cultured for 7 hours in normal medium; the curcumin group was treated with 40 μmol/L curcumin for 72 hours ; the shRNA group was infected with shRNA adenovirus for 72 hours; the irregular chemokines (CX3CL1) overexpression group was infected with CX3CL1 overexpressing adenovirus for 72 hours; the shRNA+curcumin group infected with shRNA adenovirus and treated with 40 μmol/L curcumin together for 72 hours; CX3CL1 overexpression +curcumin group infected with CX3CL1 overexpressing adenovirus and treated with 40 μmol/L curcumin together for 72 hours. After each group was given the corresponding pretreatment, the thrombus natural precipitation was added each group for 12 hours. The contents of interleukin-6 (IL-6) and tumor necrosis factor-α (TNF-α), the mRNA expression levels of CX3CL1, CX3CL1 receptor (CX3CR1), IL-6, TNF-α and the protein expression levels of CX3CL1/CX3CR1, CX3CR1/NF-κB in various groups were observed, repeat 3 times in each group. Results The contents and mRNA expression of IL-6, TNF-αand protein expression of CX3CR1, NF-κB in the LMVEC group were significantly higher than those in blank control group [IL-6 (ng/L): 207.90±16.69 vs. 85.93±20.32, TNF-α (ng/L): 239.60±15.27 vs. 101.23±11.92; IL-6 mRNA: 0.66±0.05 vs. 0.11±0.02, TNF-α mRNA: 1.06±0.04 vs. 0.02±0.01; CX3CR1 protein:3.94±0.58 vs. 1.00±0.31, NF-κB protein: 1.20±0.07 vs. 1.00±0.10; all P < 0.05]; the contents of IL-6 in shRNA group, CX3CL1 overexpression group, shRNA + curcumin group, CX3CL1 overexpression + curcumin group were all obviously lower than those in LMVEC group (ng/L: 183.60±11.52, 159.27±15.02, 117.03±7.91, 119.97±11.43 vs. 207.90±16.69, all P < 0.01); the content of TNF-α was markedly increased in shRNA group compared with that of LMVEC group (ng/L: 282.00±5.63 vs. 239.6±15.27), while the contents of TNF-α in CX3CL1 overexpression group, shRNA+ curcumin group, CX3CL1 overexpression + curcumin group were all lower than those in LMVEC group (ng/L: 216.97±9.20, 203.97±19.03, 191.97±17.50 vs. 239.6±15.27, all P < 0.05). The mRNA expression levels in CX3CL1 overexpression group and CX3CL1 overexpression + curcumin group were significantly higher than those in the blank control group and the LMVEC group (CX3CL1 mRNA: 55 210.3±1 209.2, 165 296.3±8 082.4 vs. 3.3±0.6, 2.0±0.0, all P < 0.01). The mRNA expression level of IL-6 in shRNA group was higher than that in LMVEC group (0.82±0.17 vs. 0.66±0.05), the mRNA expression level of IL-6 in CX3CL1 overexpression was lower than that in LMVEC group (0.29±0.03 vs. 0.66±0.05), the changes after pretreatment with curcumin were more significant (1.06±0.03 vs. 0.66±0.05 and 0.15±0.01 vs. 0.66±0.05); the mRNA expressions of TNF-α in shRNA group, CX3CL1 overexpression group, shRNA+ curcumin group were significantly lower than those in LMVEC group (0.41±0.04, 0.88±0.07, 1.01±0.02 vs. 1.06±0.04), the mRNA expression level of TNF-α in CX3CL1 overexpression + curcumin group was significantly higher than that in LMVEC group (1.36±0.01 vs. 1.06±0.04). The protein expression of CX3CL1, CX3CR1, NF-κB in shRNA group, CX3CL1 overexpression group, shRNA + curcumin group, CX3CL1 overexpressing + curcumin group were significantly higher than those in the LMVEC group (CX3CL1 protein: 0.41±0.07, 0.59±0.09, 0.69±0.61, 1.02±0.23 vs. 1.33±0.33, CX3CR1 protein: 0.85±0.18, 1.10±0.16, 1.32±0.18, 1.54±0.08 vs. 3.94±0.58, NF-κB protein: 0.33±0.07, 0.41±0.08, 0.41±0.07, 0.63±0.08 vs. 1.20±0.07). Conclusion Curcumin can inhibit the secretion of IL-6, TNF-α, CX3CR1 and NF-κB in thrombus-stimulated LMVEC model.
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Objective To understand students' attitude changes before and after they started their internships in the department of psychiatry and evaluate their teachers' teaching methods. Methods Using a self-made questionnaire of Psychiatric Internship Attitude that has passed the reliability and validity test, from 2015 to 2016, a total of 208 undergraduate students in the clinical medicine mental health direction of Chongqing Medical University were selected through cluster random sampling to investigate their attitude changes towards psychiatry before and after they started their internships. At the end of their internships, another self-made Psychiatric Teach Evaluation Forming Questionnaire of the reliability and validity test was used to preliminarily evaluate the students' assessment of the teaching situation of their teachers during the internship. Results Before the internships, through the survey we found that 44.2% of the students felt nervous, 37.0% fearful, 57.2% compassionate, and the percentage of students who were willing to work in the department of psychiatry is only 41.4%. Through investigation, teachers carried out the teaching work with targeted goals, at the end of the internship the tension and fear decreased to 0.0%, the proportion of empathy rose to 78.4%, and the differences are statistically significant (P<0.05). Conclusion The students' attitude survey at the beginning of their internship can help teachers improve their teaching attitudes, con-cepts and methods, and make students' negative attitudes towards mental patients and psychiatry significantly reduce.
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In vivo electroporation of morpholinos (MOs) into the retina of adult zebrafish is an efficient method to study gene function related to retinal disease and regeneration. However, the currently reported methods are complicated with low MO transfer efficiency and high probability to cause collateral damage. The present study was aimed to optimize the existing MO electroporation methods. Two major changes were made to MO electroporation procedure in zebrafish retina. One was to coat the inner side of the electrode with ultrasonic gel. The other was to replace the commonly used round electrode with novel rectangular one. The results showed that the use of ultrasonic gel reduced collateral damage caused by retinal electroporation and simplified the experimental procedure. The rectangular electrode significantly increased transfection efficiency of MO electroporation. In particular, knocking down the expression of Ascl1a in the retina by using our method significantly inhibited the generation of retinal progenitor cells. These results suggest our method is the optimization of the current MO electroporation methods and may be a better alternative for relevant researchers.
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Objective@#To investigate the efficacy of tyrosine kinase inhibitor (TKI) treatment on non-small cell lung cancer (NSCLC) patients with postoperative recurrence who harbored uncommon EGFR mutations, and discuss the relationship between TKI treatment and prognosis.@*Methods@#A total of 39 relapsed NSCLC patients after surgery with EGFR uncommon mutations who were detected at Cancer Hospital, Chinese Academy of Medical Sciences between January 1999 and December 2013 were retrospectively analyzed in this study. Twenty patients were treated with EGFR-TKI after recurrence and 19 cases were not. The clinical characteristics of patients with EGFR uncommon mutations were evaluated, and the prognosis of TKI-treatment group and non-TKI treatment group was compared.@*Results@#In 39 relapsed NSCLC patients with EGFR uncommon mutations, insertion mutations and point mutations were included. The highest frequency of EGFR uncommon mutation happened in exon 20 (20/39, 51.3%). A total of 13 uncommon point mutations were detected in exon 18, 20 and 21. The most frequent rare point mutations located in exon 21, and there were 7 different point mutation sites in exon 21. G719S/C/A mutation in exon 18 was the most common type of point mutation (14/25, 56.0%). Survival after postoperative recurrence in TKI treatment group was obviously better than that in non-TKI treatment group, the median time after recurrence were 44 months and 23 months, respectively (P=0.044). However, the postoperative overall survival showed no differences between two groups (48 months vs 43 months, P=0.129).@*Conclusion@#NSCLC patients with postoperative recurrence who harbored rare EGFR mutations should be treated with TKI agent.
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Objective To explore the characteristic of fractional amplitude of low frequency fluctuation (fALFF) and the relationship with the severity of depression, suicidal ideation and suicide risk in depression patients with suicidal ideation with resting-state functional magnetic resonance imaging (rs-fMRI). Methods Resting state functional magnetic resonance imaging maps were conducted using fractional amplitude of low frequency fluctuation (fALFF) in 52 depression patients (30 with suicidal ideation and 22 without) and 21 healthy controls (HCs). The severity of depression was evaluat-ed by using Hamilton Depression scale(HAMD). The suicidal ideation, the suicide risk in depression patients with sui-cidal ideation were both assessed by the Beck Scale for Suicide Ideation. The correlation between the fALFF value and the score of HAMD and the Beck Scale for Suicide Ideation was analyzed. Results MRI revealed significant differences in fALFF in the left superior/middle occipital gyrus and the right middle/inferior occipital gyrus (P<0.05, AlphaSim cor-rected)between depression patients with suicidal ideation and the HCs. Compared to the HCs, depression patients with-out suicidal ideation showed a higher fALFF in the left middle occipital gyrus (P<0.05, AlphaSim corrected). MRI re-vealed significant differences in fALFF in the left middle occipital gyrus (P<0.01, AlphaSim corrected)and the right mid-dle occipital gyrus (P<0.01, AlphaSim corrected) between depression patients with suicidal ideation and without. The fALFF of left middle occipital gyrus (r=0.366, P=0.046) and right middle occipital gyrus (r=0.513, P=0.004) were posi-tively correlated with the scores of HAMD, respectively whereas were not correlated with suicidal ideation and suicide risk. Conclusions Depression patients with suicidal ideation have an abnormal spontaneous activity in their left and right middle occipital gyrus. The increased activity in these brain areas are probably associated with the severity of de-pression whereas are not associated with suicidal ideation or suicide risk.
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Purpose To investigate the positive rate and concordance rate of BRAF mutation in papillary thyroid carcinoma detected by real-time PCR method and Sanger sequencing. Methods 312 papillary thyroid carcinomas patients were enrolled in this study. Real-time PCR method and Sanger sequencing were performed to detect BRAF gene mutations. The frequency of BRAF mutation and the concordance of two methods were analyzed. Results BRAF mutation was detected in 65. 4% (204/312) and 63. 8% (199/312) of 312 papillary thyroid carcinoma samples by using real-time PCR method and Sanger sequencing, respectively. There was no significant correlation between BRAF gene mutations and patients’ gender. There was significant correlation between BRAF gene mutations and patients’ age. The overall concordance between real-time PCR method and Sanger sequencing for BRAF mutation detection was 98. 4%. Conclusion Real-time PCR method provides an effective method in BRAF gene mutation detection.
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Purpose To explore the relationship between the mutations of epidermal growth factor receptor ( EGFR) and KRAS genes and clinicopathological characteristics in patients with non-small cell lung cancers (NSCLC). Methods Clinical samples from 431 NSCLC patients were obtained for EGFR and KRAS gene analysis. PCR based direct DNA sequencing was used to investigate mutations in exon 18-21 of EGFR gene and codon 12 and 13 of exon 2 of KRAS gene. Results The overall EGFR mutation rate of primary NSCLC was 53. 6% (231/431) in this study cohort and eight cases showed double EGFR mutations. Mutation rates in female and male were 65. 2% (122/187) and 46. 9% (98/209), respectively. The mutation rate was higher in patients with non-smokers and adeno-carcinoma and adenosquamous carcinoma subtypes than in their counterparts (PT, G>A, G>C) , and three patients had codon 13 mutations ( G>A, G>T) . Most of these mutations were G to T transversion (64. 5%, 20/31). Conclusion Polymerase chain reaction-direct sequencing is a reliable and effective method for the detection of the EGFR and KRAS gene mutation in NSCLC patients. The mutation rate of EGFR is higher in Chinese patients, especial-ly in non-smoking female patients with adenocarcinoma.
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We investigated the baseline brain activity level in patients with major depressive disorder (MDD) by am plitude of low-frequency fluctuation (ALFF) based on resting-state functional MRI (fMRI). We examined 13 patients in the MDD group and 14 healthy volunteers in the control group by resting-state fMRI on GE Signa 3.0T. We calculated and compared the ALFF values of the two groups. In the MDD group, ALFF values in the right medial prefrontal were higher than those in control group, with statistically significant differences (P < 0.001). ALFF values in the left parietal in the MDD group were lower than those in control group with statistically significant differences (P < 0.001). This resting-state fMRI study suggested that the alteration brain activity in the right medial prefrontal and left parietal ALFF contributed to the understanding of the pathophysiological mechanism of MDD patients.
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Humans , Brain , Brain Mapping , Case-Control Studies , Depressive Disorder, Major , Magnetic Resonance ImagingABSTRACT
<p><b>OBJECTIVE</b>To evaluate the sensitivity and specificity of fully automated immunohistochemistry (IHC), with comparison to FISH, in the detection of EML4-ALK rearrangement in lung adenocarcinoma (ADC); and the use of IHC as a pre-screening tool.</p><p><b>METHODS</b>A total of 404 paraffin-embedded NSCLC samples from surgical resections were tested by IHC with Ventana anti-ALK rabbit monoclonal antibody (D5F3) and ultrasensitive detection kit. ALK rearrangement was further confirmed by FISH.</p><p><b>RESULTS</b>Twenty-nine of 404 lung ADCs (7.2%) were positive for ALK by IHC. ALK positive tumor cells demonstrated strong and diffused granular cytoplasmic staining. All the ALK IHC-positive cases were confirmed to harbor ALK rearrangement by FISH. None of the ALK IHC-negative cases was FISH-positive.</p><p><b>CONCLUSIONS</b>IHC can effectively detect ALK rearrangement in lung cancer. It may provide a reliable and cost-effective diagnostic approach in routine pathologic laboratories for the identification of suitable candidates for ALK-targeted therapy.</p>
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Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Adenocarcinoma , Genetics , Metabolism , Carcinoma, Non-Small-Cell Lung , Genetics , Metabolism , Gene Rearrangement , Immunohistochemistry , In Situ Hybridization, Fluorescence , Lung Neoplasms , Genetics , Metabolism , Oncogene Proteins, Fusion , Genetics , Metabolism , Sensitivity and SpecificityABSTRACT
<p><b>OBJECTIVE</b>To study the prevalence of the BRAF V600E mutation in papillary thyroid carcinoma (PTC) and its association with clinicopathologic features.</p><p><b>METHODS</b>Two hundred and ninety-two patients with primary PTC encountered during the period from December 2010 to December 2012 and underwent surgery in Cancer Hospital, Chinese Academy of Medical Science were enrolled into the study. Polymerase chain reaction was used to amplify exon 15 of the BRAF gene from paraffin-embedded thyroid tumor specimens, followed by direct sequencing to detect the BRAF V600E mutation. Statistical analysis was performed with SPSS 16.0 for Windows. Association between BRAF mutation and clinicopathologic parameters was tested with the χ(2) test or Fisher exact test as appropriate.</p><p><b>RESULTS</b>There were 87 males and 205 females in the cohort. The age of patients ranged from 13 to 84 years (mean = 43.1 years). BRAF V600E mutation was found in 190 cases (65.1%). The presence of BRAF V600E mutation correlated with age at diagnosis (older than 45 years), tumor volume (larger than 1 cm), extrathyroidal extension, classic type/tall-cell variant and advanced disease stage (P < 0.05). BRAF V600E mutation did not correlate significantly with gender, multicentricity, lymph node metastasis or anatomic location (P > 0.05).</p><p><b>CONCLUSION</b>BRAF V600E mutation is associated with high-risk clinicopathologic characteristics in patients with PTC. The BRAF V600E mutation may be a potential prognostic factor in PTC patients.</p>
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Adolescent , Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Asian People , Carcinoma , Genetics , Pathology , Carcinoma, Papillary , Exons , Lymphatic Metastasis , Mutation , Polymerase Chain Reaction , Proto-Oncogene Proteins B-raf , Genetics , Thyroid Neoplasms , Genetics , PathologyABSTRACT
<p><b>OBJECTIVE</b>The aim of this study is to investigate the development of auditory skills in Mandarin-speaking infants with normal hearing using IT-MAIS, set up normal comparison data for evaluating the auditory performance of children with hearing loss and provide a basis for establishing an appropriate hearing and speech rehabilitation program for them.</p><p><b>METHODS</b>A total of 183 infants with Mandarin-speaking patents participated in this investigation which was conducted in Beijing, China. 160 infants aged from 1 to 36 months were finally included, whose hearing were considered normal according to the history collection, high-risk registers for hearing loss and hearing screening using DPOAE. All infants were divided into 8 groups with 20 infants in each group by their ages. They were 1 month, 2-3 months, 4-6 months, 7-9 months, 10-12 months, 13-18 months, 19-24 months and 25-36 months group. The IT-MAIS/MAIS were administered to evaluate their development of auditory skills. All statistical analyses were executed using the MATLAB R2010a.</p><p><b>RESULTS</b>The detection scores improved with age and reached ceiling at 19 months in infants with normal hearing, the regression function for prediction of scores from age was score = 0.26×ln(age) + 0.23 and prediction of age from score was age = e([score-0.23])/0.26, r(2) = 0.93. The recognition scores also increased with age and reached ceiling at 24 months in infants with normal hearing, the regression function for prediction of scores from age was score = 0.26×ln(age)-0.07 and prediction of age from score was age = e([score+0.07])/0.34, r(2) = 0.93. The overall scores which combine the above two aspects augmented with age and reached ceiling at 22 months. The regression function for prediction of scores from age was score = 0.3×ln(age)+0.09 and prediction of age from score was age = e([score-0.09])/0.3, r(2) = 0.95.</p><p><b>CONCLUSIONS</b>Auditory skills showed a growth trend with age in infants with normal hearing. Scores of different auditory skills can be predicted according to their age. Age can also be predicted according to their scores of different auditory skills.</p>