The clinical data, laboratory testing, genetic testing results, diagnosis and treatment process of a child with PERCHING syndrome diagnosed and treated in the Department of Neonatology, the Third Affiliated Hospital of Zhengzhou University in June 2022 were retrospectively analyzed, and the relevant literatures were reviewed.The proband mainly presented with dyspnea and feeding difficulties after delivery, facial nevus flammeus, protrusion of eyes, small fissure of eyes, wide nasal root, limited opening of mouth, slightly high palatal arch, special posture, cryptorchid, hypospadias, and high muscle tone of limbs.Magnetic resonance imaging of the brain suggested possible agenesis of corpus callosum.Genetic testing showed complex heterozygous variations in the KLHL7 gene, and the two mutation sites have not been previously reported.A case of PERCHING syndrome caused by the KLHL7 gene mutation in China was reported for the first time, which provided new ideas for the diagnosis and treatment of children with PERCHING syndrome and reliable genetic evidence for family reproduction.

Objective:To study the amplification / overexpression of human epidermal growth factor receptor 2 (HER2) in patients with gallbladder cancer, and to analyze the correlation between amplification/overexpression of HER2 with clinicopathological features and survival in patients after R 0 resection. Methods:There were 14 males and 26 females, aged (60.3±8.7) years old and treated at the Cancer Hospital of Chinese Academy of Medical Sciences from January 2011 to December 2016 who met the inclusion criteria of the study. Immunohistochemistry and fluorescence in situ hybridization were used to detect amplification / expression of HER2 in resected tumor tissues. Patients were divided into two groups according to the HER2 gene expression: the HER2-negative group ( n=40) and the HER2-positive group ( n=10). The Chi-square test was used to analyze the relationship between amplification/expression of HER2 and clinicopathological parameters. Patients were followed up by telephone for prognosis. The Kaplan-Meier method was used for survival analysis. The Cox proportional hazard model was used to explore factors affecting prognosis of gallbladder cancer patients. Results:HER2 amplification/overexpression was found in 10 patients with gallbladder cancer, with a positive rate of HER2 being 20.0% (10/50). There was a significant difference in the proportion of patients with vascular tumor thrombus between the HER2 negative group and the HER2 positive group [7.5%(3/40) vs. 30.0%(3/10), P<0.05]. On follow-up, data of 46 patients was available. There were 36 patients in the HER2-negative group and 10 patients in the HER2-positive group. Compared with the HER2-negative group, the median recurrence-free survival (10.10 vs. 75.07 months) and the median overall survival (16.77 vs. 83.07 months) of the HER2-positive group were both significantly lower (both P<0.05) than the HER2-negative group. Univariate analysis showed HER2 positivity to be a risk factor for recurrence-free and overall survival in patients with gallbladder cancer after radical resection. Cox multivariable analysis revealed that lymph node metastasis was an independent risk factor for both recurrence-free ( HR=4.31, 95% CI: 1.92-9.68, P<0.001) and overall survival ( HR=3.44, 95% CI: 1.08-11.00, P=0.037). Conclusion:Amplification / overexpression of HER2 was associated with venous invasion and worse prognosis in patients with gallbladder cancer.

Objective:To study the efficacy of different systemic chemotherapy regimens as first-line and second-line therapy and to determine the prognostic factors for patients with advanced biliary tract cancer.Methods:The clinical data of patients with advanced biliary tract cancer who underwent systemic chemotherapy in Cancer Hospital of Chinese Academy of Medical Sciences from January 2011 to December 2018 were studied. The efficacy of chemotherapy on objective response rate (ORR) and disease control rate (DCR) were evaluated. Potential prognostic factors for survival were studied using the Cox proportional hazards models.Results:Of 151 patients enrolled into this study, there were 75 males and 76 females, with ages ranging from 31 to 77 years (median 58 years). Two treatment protocols were used: (1) 104 patients received a gemcitabine-based regimen (combined with platinums or fluorouracils) or a combination of platinums and fluorouracils, while (2) 47 patients received a combination of albumin-bound paclitaxel and S-1. The corresponding ORR for each group were 15.4%(16/104) and 27.6%(13/47), respectively, and the DCR were 65.4%(68/104) and 72.3%(34/47), respectively. Of 58 evaluable patients who received chemotherapy as a second-line therapy, 31 patients received the regimen containing gemcitabine, platinums or fluorouracils with an ORR of 3.2% (1/31) and a DCR of 35.5%(11/31); a total of 18 patients received the taxanes-based regimen with an ORR of 11.1%(2/18) and a DCR of 38.9%(7/18); 9 patients received the irinotecan-based regimen with an ORR of 22.2%(2/9) and a DCR of 44.4%(4/9). Univariate analysis showed positive liver metastasis and elevated carbohydrate antigen (CA)19-9 level to be significantly correlated with worse survival outcomes ( HR=1.540, 95% CI: 1.019-2.328, P=0.040 and HR=1.892, 95% CI: 1.123-3.188, P=0.017). Conclusion:For patients with advanced biliary tract cancer, in addition to the conventional regimens containing gemcitabine, platinums and fluorouracils, the combination of albumin-bound paclitaxel and S-1 was shown to be an effective chemotherapeutic regimen for these patients. Second-line chemotherapy was insufficient and ineffective, and an irinotecan-based regimen deserves to be further investigated. Liver metastasis and elevated CA19-9 level were worse prognosis after chemotherapy for patients with advanced biliary tract cancer.

Objective:To explore the clinical application of NanoString fluorescent barcode technology in the molecular subtyping of diffuse large B-cell lymphoma (DLBCL), and to analyze the correlation between the cell-of-origin subtype and prognosis of patients.Methods:The tumor tissue samples of 12 patients with DLBCL at the Third People's Hospital of Datong of Shanxi Province and 8 patients with DLBCL at Peking University, Health Science Center between January 2014 and December 2019 were collected. According to Hans algorithm, all patients were divided into 1 case of germinal center-derived B-cell (GCB) type and 19 cases of non-GCB type. NanoString platform was used to analyze the expression level differences of 15 genes-related to Lymph2Cx molecular subtyping of all samples at mRNA level. Hierarchical clustering was used to subgroup 20 DLBCL cases and to contrast the prognosis in different subgroups according to the subtyping.Results:NanoString fluorescent barcode technology was used to detect samples of 20 DLBCL cases and hierarchical clustering analysis was performed, and then subtyping results showed that 11 cases were GCB-like type and 9 cases were activated B cell (ABC)-like type. Based on Hans algorithm, 10 GCB-like cases were non-GCB type. According to the survival analysis, GCB-like group had a better overall survival compared with that in ABC-like group ( P=0.019). Conclusion:NanoString fluorescent barcode technology can be successfully applied to the cell-of-origin subtyping of DLBCL, and the molecular subtyping strategy can effectively predict the prognosis of patients.

Objective:To explore the application value of neuro-linguistic programming (NLP) in psychological intervention for patients with cervical cancer.Methods:Totally 86 patients receiving chemotherapy for cervical cancer in Henan Provincial People's Hospital from July 2015 to December 2017 were selected by convenient sampling and divided into the observation group ( n=43) and the control group ( n=43) according to the random number table. Patients in the control group received conventional psychological intervention, while patients in the observation group received psychological intervention guided by NLP on this basis. The Symptom Checklist-90 (SCL-90) , Medical Coping Modes Questionnaire (MCMQ) and 36-Item Short Form Survey Instrument (SF-36) were used to evaluate the status, coping style and quality of life, and compare the compliance of the two groups of patients 3 months before and after intervention. Results:The SCL-90 scores in somatization, interpersonal sensitivity, anxiety and depression of the observation group were lower than those of the control group after intervention, and the differences were statistically significant ( P<0.05) . The MCMQ score in facing of the observation group was higher than that of the control group, while the scores in avoidance and yield of the observation group were lower than those in the control group, and the differences were statistically significant ( P<0.05) . The compliance of the observation group was better than that of the control group, and there was statistically significant difference between the two groups ( P<0.05) . Conclusions:NLP can ameliorate the negative emotions of patients with cervical cancer, change their coping styles, improve their treatment compliance and quality of life, which is of clinical significance.

The corresponding electrocardiographic manifestat of the different culprit vessels in patients with acute myocardial infarct is elaborated and its diagnostic value is discussed.