Fusion variations of neurotrophic receptor tyrosine kinase (NTRK) are oncogenic drivers in various solid tumors such as breast cancer, salivary gland carcinoma, infant fibrosarcoma, etc. Gene rearrangements involving NTRK1/2/3 lead to constitutive activation of the tropomyosin receptor kinase (TRK) domain, and the expressed fusion proteins drive tumor growth and survival. NTRK fusions are estimated to occur at a frequency of approximately 0.1% to 1% in non-small cell lung cancer (NSCLC). Epidermal growth factor receptor (EGFR) mutations are prevalent in NSCLC, but the frequency of EGFR G719A mutation is relatively low (about 2%), and EGFR mutations are typically mutually exclusive with NTRK fusion variants. The study presented the first documented case of lung adenocarcinoma harboring both EGFR G719A mutation and LMNA-NTRK1 fusion. A review of the literature was conducted to elucidate the role of NTRK fusion mutations in NSCLC and their relationship with EGFR mutations, aiming to enhance the understanding of NTRK fusion mutations in NSCLC.
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Humans ; Adenocarcinoma/genetics* ; Adenocarcinoma of Lung ; ErbB Receptors/genetics* ; Lamin Type A/genetics* ; Lung Neoplasms/genetics* ; Mutation ; Oncogene Proteins, Fusion/genetics* ; Receptor, trkA/metabolism*

Objective To investigate the efficacy of intratumoral and peritumoral radiomics features besed on biparametric MRI combined with pathological parameters in predicting biochemical recurrence(BCR)after radical prostatectomy(RP).Methods A total of 295 prostate cancer(PCa)patients who underwent RP were retrospectively selected and divided into training set(n=206)and test set(n=89)in a 7∶3 ratio.Subgroups were stratified based on prostate specific antigen(PSA)results during 24-month postopera-tive follow-up.Radiomics features were extracted and integrated from both intratumoral and peritumoral 3 mm dual-regions on T2WI and apparent diffusion coefficient(ADC)sequences.Feature selection was performed using independent sample t-tests,maximum relevance and minimum redundancy(mRMR)algorithm,and least absolute shrinkage and selection operator(LASSO)regression.Binary logis-tic regression analysis was used to screen the independent pathological risk factors.Radiomics models(intratumoral,peritumoral,and combined)and a pathological model were constructed based on the Light gradient boosting machine(LightGBM)algorithm.A nomo-gram model was developed by integrating the pathological model with the combined model.The model efficacy was evaluated via the receiver operating characteristic(ROC)curves,and the DeLong's test and net reclassification improvement(NRI)were used to com-pare the efficacy differences among the models.Results Finally,the optimal feature numbers for the intratumoral,peritumoral,and combined models were 5,6,and 6,respectively.In the test set,the combined model demonstrated significantly higher area under the curve(AUC)than the intratumoral model(0.905 vs 0.815,P＜0.05).Ki-67,extracapsular extension,and positive surgical margin were identified as independent pathological predictors of BCR(P＜0.05).The nomogram model demonstrated significantly higher AUC than the pathological model(0.931 vs 0.786,P＜0.05),with no significant difference versus the combined model(0.931 vs 0.905,P＞0.05).Conclusion The nomogram model integrating intratumoral,peritumoral radiomics features with pathological parameters can effectively predict the occurrence of BCR within 2 years after PCa surgery.

Objective To investigate the efficacy of intratumoral and peritumoral radiomics features besed on biparametric MRI combined with pathological parameters in predicting biochemical recurrence(BCR)after radical prostatectomy(RP).Methods A total of 295 prostate cancer(PCa)patients who underwent RP were retrospectively selected and divided into training set(n=206)and test set(n=89)in a 7∶3 ratio.Subgroups were stratified based on prostate specific antigen(PSA)results during 24-month postopera-tive follow-up.Radiomics features were extracted and integrated from both intratumoral and peritumoral 3 mm dual-regions on T2WI and apparent diffusion coefficient(ADC)sequences.Feature selection was performed using independent sample t-tests,maximum relevance and minimum redundancy(mRMR)algorithm,and least absolute shrinkage and selection operator(LASSO)regression.Binary logis-tic regression analysis was used to screen the independent pathological risk factors.Radiomics models(intratumoral,peritumoral,and combined)and a pathological model were constructed based on the Light gradient boosting machine(LightGBM)algorithm.A nomo-gram model was developed by integrating the pathological model with the combined model.The model efficacy was evaluated via the receiver operating characteristic(ROC)curves,and the DeLong's test and net reclassification improvement(NRI)were used to com-pare the efficacy differences among the models.Results Finally,the optimal feature numbers for the intratumoral,peritumoral,and combined models were 5,6,and 6,respectively.In the test set,the combined model demonstrated significantly higher area under the curve(AUC)than the intratumoral model(0.905 vs 0.815,P＜0.05).Ki-67,extracapsular extension,and positive surgical margin were identified as independent pathological predictors of BCR(P＜0.05).The nomogram model demonstrated significantly higher AUC than the pathological model(0.931 vs 0.786,P＜0.05),with no significant difference versus the combined model(0.931 vs 0.905,P＞0.05).Conclusion The nomogram model integrating intratumoral,peritumoral radiomics features with pathological parameters can effectively predict the occurrence of BCR within 2 years after PCa surgery.

Objective: To analyze the characteristics of the "Interner Plus-based AIDS Comprehensive Prevention Service System" among MSM who frequently using the Internet in Guangzhou. Methods: An online survey was conducted among MSM who were recruited through gay-website portals between August and September, 2018 in Guangzhou, to collect information regarding the use of and attitudes on the "Interner Plus-based AIDS Comprehensive Prevention Service System" . Logistic regression was used to explore the association between the use of Internet intervention tools and related behavioral characteristics. Information on the awareness of AIDS, HIV testing, and condomless anal sex behavior were compared between the core or non-core services users. Results: A total of 777 Internet-based MSM were recruited as participants including 638 men (82.1%) as core service users. MSM were satisfied in using the the "Interner Plus-based AIDS Comprehensive Prevention Service System" while more than 80.0% of the users felt that the tools were helpful in: increasing the HIV awareness, promoting test uptake, and reducing those related risk behavior. Comparing with those who did not use the tools, the users showed higher rates in practising condomless anal intercourse (1.50-1.86 times), commercial sex with men (11.60-21.21 times), and unprotected vaginal intercourse (13.62-20.67 times), in the last 6 months. Proportions of core service users appeared as: [96.6% vs. 74.8%, aOR (95%CI): 8.80 (4.85-15.97)] on HIV testing, [56.4% vs. 22.3%, aOR (95%CI): 4.54 (2.94-7.02)] on regular HIV testing and [86.2% vs. 80.6%, aOR (95%CI): 1.75 (1.06-2.89)] on awareness of HIV knowledge respectively, which were all significantly higher than the non-core service users. Conclusions The frequent Internet using MSM in Guangzhou claimed to have had high acceptance and satisfaction on the local Internet HIV intervention service tools. The "Internet Plus-based AIDS Comprehensive Prevention Service System" had effectively reached the high-risk subgroups of MSM, increasing the awareness on related risk and promoting testing on HIV.

Objective: This article was to evaluate the applicability and feasibility of "Lingnanzhun" -an "Internet Plus-based HIV Self-testing Tool" targeting MSM in Guangzhou. Hopefully, the results could be used to improve the existing HIV testing services and to support the implementation and scale-up of HIV self-testing programs. Methods: Data were collected from a survey on HIV testing preferences among the Internet-using MSM in April to June, 2015. Univariate and multivariate logistic regression analysis were applied to identify factors associated with the use of HIV self-testing service provided by Lingnanzhun. Information related to the users of Lingnanzhun during September 2014 and December 2018 was also collected. Results: 769 MSM were recruited as participants. Of them, age distribution was 16-77(28.6±6.8) years old, 88.3%(679/769) were unmarried, 42.2%(325/769) were registered residents of Guangzhou, 82.1%(631/769) had university or college education. Among them, 195 (25.4%) used the HIV self- testing program of Lingnanzhun while 574 (74.6%) using the clinic service. Compared with the clinic service users, the Lingnanzhun users showed the following characteristics: longer experience in the MSM community ≥10 years (32.8% vs. 20.9%, 64/195 vs. 120/574); having male casual sexual partners ≥2 (42.1% vs. 29.6%, 82/195 vs. 170/574); having group sex (6.2% vs. 2.6%, 12/195 vs. 15/574) and having commercial sex with men (13.8% vs. 3.0%, 27/195 vs. 17/574). Data from the Lingnanzhun users showed that a total of 3 000 users had practised 5 038 times of self HIV-testings. 11.4% (343/3 000) of the Lingnanzhun users had never been tested. Conclusions It was applicable and feasible to provide Internet-based HIV self-testing service to MSM as a significant complement to the traditional facility-based HIV testing services. It was also useful in accessing those who were having higher risk or had never received HIV testing so as to increase the testing uptake and the frequency.

Objective: To analyze the characteristics of levels related to the risk through self-evaluation system, among MSM users in Guangzhou, between 2015 and 2017. Methods: Between 2015 and 2017, data was collected from the users of a self-evaluation system network related to HIV infection, based on the previous 'HIV health risk appraisal model’. Information on risk factors was collected to calculate the scores and levels of risks and to estimate the incidence of HIV. Taking the reference of R value on risks as (R=0.9-1.1) in general population. The ones with very low risk, with low risk, moderate risk, high risk and very high risk were set as R≤0.5, 0.5<R≤0.9, 0.9<R≤1.1, 1.1< R≤2.0 and R>2.0, respectively. The scores of modifiable risk factors were compared with different subgroups of MSM. Results: A total of 4 601 MSM were involved in this study, with the following features presented as: aged 16-64 (28.38±7.11) years, proportions of residence from Guangzhou, Guangdong province or other provinces as 38.6%(1 776/4 601)、35.4%(1 629/4 601) and 26.0%(1 197/4 601), 59.6%(2 742/4 601) received bachelor or above degrees. 81.3%(3 741/4 601) of them claimed as having homosexual orientation. R values of risk level on very low risk, low risk level, moderate risk, high risk and very high risk appeared as 12.9%(594/4 601), 50.9%(2 342/4 601), 17.0%(783/4 601), 14.8%(682/4 601) and 4.3%(200/4 601), respectively. Scores of modifiable risk factors decreased year by year (P<0.05), among MSM in this study. In either of the groups that experiencing insertive or receptive sex, the ones with heterosexual orientation presented the highest scores of modifiable risk factors (P<0.05). Conclusions The risk levels on HIV infections called for special attention among the users of the self-evaluation network system. Among the MSM that carrying either insertive or receptive sex role, the ones with heterosexual orientation had the highest risk levels and scores of modifiable risk factors in Guangzhou. Further study should be explored to better understand the causes of related risks.

Objective: To evaluate the effectiveness of the "Internet Plus-based AIDS Comprehensive Prevention Service System" among men who have sex with men in Guangzhou. Methods: Data through case-reporting and follow-up programs on MSM HIV/AIDS in Guangzhou was collected from the China Information System for Disease Control and Prevention, which including those from the referral and follow-up treatment compliance programs in 2008-2014 (pre-treatment) and 2017-2018 (post-treatment). According to the types of care services, three groups were set as: with "Internet Plus" service, with 'HIV counseling/testing service’ or with 'routine medical service’. General Estimating Equation (GEE) was used to analyze the follow up situation of HIV/AIDS cases, annually. Cox proportional hazard regression model was used to analyze the proportions of treatment referral, within the 30 days of diagnosis. Results: Before the implementation of immediate treatment after HIV diagnosis, 90.6% (707/780) of the HIV/AIDS cases received the first follow up program including the CD₄⁺ T cells counts (CD₄) test service within 90 days of diagnosis, in the "Internet Plus-based HIV/AIDS care service" group presented 1.19 times (95%CI: 1.14-1.25) of the routine medical service group. The implementation of immediate treatment after HIV diagnosis, compared with the routine medical service group, the "Internet Plus" service group presented 1.71 times (95%CI: 1.03- 2.83) more treatment referrals within the 30 days of diagnosis, when the first testing CD₄ was ≤200 cells/μl. Compared with the routine medical service group, the HIV counseling and testing service group showed 1.37 times (95%CI: 1.20-1.56) more of the treatment referrals within the 30 days of HIV diagnosis, after the first testing CD₄ counts as >200 cells/μl. Conclusion Standardized care and follow-up service should be promoted as soon as the referral and treatment programs were set after the diagnosis was made, under the "Internet Plus-based AIDS Comprehensive Prevention Service System" for the MSM population, in Guangzhou.

OBJECTIVETo explore the clinical characteristics of a patient with Sensenbrenner syndrome (also called cranioectodermal dysplasia type 3) caused by mutation of intraflagellar transport (IFT) 43 gene.

METHODSThe clinical data of the patient was retrospectively analyzed. The target genes was the patient were captured and subjected to next generation sequencing. Suspected mutations were verified through Sanger sequencing.

RESULTSThe patient, a-13 year-and-5-month-old girl, was admitted for anemia and renal dysfunction for 8 months. Clinically, she has featured short stature, short limbs, brachydactylia, tooth agenesis, and retinal dystrophy, high-degree myopia, and chronic renal failure. Gene sequencing showed that she has carried a homozygous c.1A>G (p.M1V) mutation of the IFT43 gene, for which both of her parents were heterozygous carriers.

CONCLUSIONc.1A>G (p.M1V) mutation of the C14ORF179/IFT43 gene is the cause for praecox chronic renal failure in children. Genetic testing can facilitate the diagnosis of this rare disorder. For affected families, prenatal diagnosis should be provided.

Objective To observe the effect of penetrating electro-acupuncture at scalp-acupoints on the motor function and oxidative stress action of mice with Parkinson's disease (PD).Methods Mouse model of PD was established by 5-day intraperitoneal injection of 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP,30 mg/kg),and then PD mice were given electro-acupuncture set at different parameters.The effect of the electroacupuncture on the behavior and expression of tyrosine hydroxylase (TH) of mice were observed to screen out the appropriate treatment parameters.Healthy C57BL/6 mice were randomly divided into blank group,model group,positive group (madopar,6.25 mg/kg) and electro-acupuncture group.The mice except for blank group were given intraperitoneal injection of MPTP to induce PD,and then the PD mice of positive group and electroacupuncture group were treated with madopar(6.25 mg/kg) and electro-acupuncture respectively from the 6th day for 7 continuous days.Behavioral test was carried out on the 5~ modeling day and on the Th electro-acupuncture treatment day to evaluate the motor function of the mice.After the mice were killed and their brains were isolated,mitochondrial complex Ⅰ ～Ⅳ activities,reactive oxygen species(ROS) level,malondialdehyde (MDA) content,and total activities of superoxide dismutase (SOD) in the cerebral mitochondria were determined to evaluate the effect of electro-acupuncture at acupoints on anti-oxidative stress of PD mice.Results The motor function of PD mice was improved,the activity of mitochondrial complex Ⅰ was increased,the contents of ROS and MDA in cerebral mitochondria were decreased,and the activity of SOD was increased in the electro-acupuncture group,the differences being significant compared with those of the model group (P ＜ 0.05 or P ＜ 0.01).Conclusion Penetrating electro-acupuncture at scalp-acupoints can increase the anti-oxidative ability of the cerebral mitochondria and improve the motor function of PD mice.

Objective To summarize the experience of diagnosis and treatment of occult spontaneous pneumothorax in young adults.Methods To review and summarize the imaging data and treatment process of 22 cases of occult spontaneous pneumothorax.Results Surgical treatment was performed in 22 patients.Among them,VATS operation in 18 cases,VATMoperation in 4 cases.Operation difficulty was severe adhesion free existed in the apex of lung and pleural top.22 patients with the successful completion of the operation,no major bleeding during the operation,no open chest surgery.1 -3 years follow -up without recurrence.Conclusion Surgical treatment is the first choice for occult spontaneous pneumothorax in young adults.Often due to severe adhesion of the chest,surgery is difficult,the surgeon should be fully prepared before surgery.Patients with good prognosis,due to the difficulty of early diagnosis,clinicians should pay attention to.