Objective:To investigate whether the lung specific X protein(LUNX)gene can serve as a prognostic biomarker for non-small cell lung cancer related to immune cell infiltration.Methods:A total of 280 non-small cell lung cancer patients admitted to Hengshui People's Hospital from January 2020 to January 2023 were selected to detect the expression of LUNX gene in cancer tissue and adjacent tissues,and to analyze the relationship between LUNX gene and immune cell infiltration and prognosis survival status in the tumor microenvironment.Results:Compared with adjacent tissues,the expression level and positive rate of LUNX gene in non-small cell lung cancer tissue were increased,which were related to differentiation degree,lymph node metastasis and tumor staging(P<0.05).GEPIA database analysis showed that the LUNX gene was only slightly expressed or not expressed in other tissues,while its expression was elevated in LUAD and LUSC(P<0.05).The copy number of LUNX gene and LUNX gene were related to the level of immune cell infiltration(P<0.05).Survival analysis showed that high expression of the LUNX gene was associated with patient survival prognosis(P<0.05).Conclusion:The LUNX gene is specifically expressed in non-small cell lung cancer tissue,affecting the level of immune cell infiltration in non-small cell lung cancer,leading to an imbalance in the immune microenvironment,and is an important mechanism for causing patients prognostic death,which can be used as a prognostic biomarker for evaluating immune cell infiltration.

Objective:To analyze ultrasonographic manifestations and genetic etiology of nine fetuses with 7q11.23 duplication syndrome.Methods:Ultrasonographic finding, pregnancy outcome and follow-up of nine fetuses detected at the Prenatal Diagnosis Center of the Third Affiliated Hospital of Zhengzhou University from January 2017 to December 2021 were retrospectively analyzed.Results:The fetuses were found to harbor a duplication in the 7q11.23 region by chromosomal microarray analysis (CMA). Among these, five had shown ventriculomegaly, including four syndromic and one non-syndromic. For the remainders, one had ventricular septal defect and mild tricuspid regurgitation, one had echogenic intracardiac focus, whilst another two were normal. Five couples had accepted parental verification, and the results confirmed that the 7q11.23 duplication carried by their fetuses were de novo in origin. Following genetic counseling, seven couples had opted to terminate their pregnancies. Two fetuses were delivered at full term, and follow-up had found no abnormalities. Conclusion:Prenatal ultrasonographic manifestations of fetuses with 7q11.23 duplication syndrome are variable. CMA can provide assistance for their diagnosis and genetic counseling.

Hepatocellular carcinoma is one of the most common malignant tumors in the world, which is a serious threat to human health. HBV infection is one of the most common causes of hepatocellular carcinoma.The diagnosis of most hepatocellular carcinoma has progressed to the middle and late stage, and the prognosis is poor. Early detection, diagnosis and treatment are important supports to improve the clinical outcome of hepatocellular carcinoma. In recent years, scholars at home and abroad have established various hepatocellular carcinoma risk prediction models, which are conducive to improving the early diagnosis rate of hepatocellular carcinoma and reducing the mortality rate. This article reviews the risk factors and risk prediction models of chronic hepatitis B associated hepatocellular carcinoma, in order to provide reference for HBV-associated liver cancer risk monitoring and management decision.

Objective To analyze the effects of painting and medication intervention on psycho-logical state,compliance and quality of life in patients with generalized anxiety disorder(GAD).Methods A total of 70 patients with GAD from May 2020 to September 2022 were included as study subjects,among whom 35 patients receiving single drug intervention were included in single group,and 35 patients receiving painting combined drug intervention were included in combined group.The psychological state scores and intervention compliance of the subjects in the two groups were ana-lyzed,the life quality scores and serum factor expression levels of the subjects in the two groups were compared before and after intervention,and the changes in sleep quality of the two groups were ob-served before and after intervention.Results After intervention,the scores of Hamilton Anxiety Rat-ing Scale(HAMA),Hamilton Depression Rating Scale(HAMD)in the two groups were decreased compared with those before intervention,but their scores in the combined group were lower,and the differences were statistically significant(P＜0.05).The total compliance rate of the combined group was higher than that of the single group(P＜0.05).After intervention,the 36-item Shot-form Health Status Survey(SF-36)scores of the two groups were improved compared with that before intervention,and the SF-36 score of the combined group was higher,the difference was statistically significant(P＜0.05).After intervention,the expression levels of brain derived neurotrophic factor(BDNF)and malondialdehyde(MDA)in the combined group were lower than those in the single group,and the expression level of superoxide dismutase(SOD)was higher than those in the single group(P＜0.05).After intervention,the sleep quality of the two groups was improved compared with that be-fore intervention,but the improvement degree of the combined group was higher(P＜0.05).Conclusion Painting combined with drug intervention can effectively improve the adverse psycho-logical state of GAD patients,improve their intervention compliance,and further improve their qual-ity of life and sleep quality.

Objective To analyze the effects of painting and medication intervention on psycho-logical state,compliance and quality of life in patients with generalized anxiety disorder(GAD).Methods A total of 70 patients with GAD from May 2020 to September 2022 were included as study subjects,among whom 35 patients receiving single drug intervention were included in single group,and 35 patients receiving painting combined drug intervention were included in combined group.The psychological state scores and intervention compliance of the subjects in the two groups were ana-lyzed,the life quality scores and serum factor expression levels of the subjects in the two groups were compared before and after intervention,and the changes in sleep quality of the two groups were ob-served before and after intervention.Results After intervention,the scores of Hamilton Anxiety Rat-ing Scale(HAMA),Hamilton Depression Rating Scale(HAMD)in the two groups were decreased compared with those before intervention,but their scores in the combined group were lower,and the differences were statistically significant(P＜0.05).The total compliance rate of the combined group was higher than that of the single group(P＜0.05).After intervention,the 36-item Shot-form Health Status Survey(SF-36)scores of the two groups were improved compared with that before intervention,and the SF-36 score of the combined group was higher,the difference was statistically significant(P＜0.05).After intervention,the expression levels of brain derived neurotrophic factor(BDNF)and malondialdehyde(MDA)in the combined group were lower than those in the single group,and the expression level of superoxide dismutase(SOD)was higher than those in the single group(P＜0.05).After intervention,the sleep quality of the two groups was improved compared with that be-fore intervention,but the improvement degree of the combined group was higher(P＜0.05).Conclusion Painting combined with drug intervention can effectively improve the adverse psycho-logical state of GAD patients,improve their intervention compliance,and further improve their qual-ity of life and sleep quality.

OBJECTIVE: To carry out clinical and genetic analysis for an infant manifesting perianal lesions, diarrhea and multiple intestinal perforations. METHODS: Genomic DNA of the infant was extracted and subjected to targeted capture exome sequencing. Candidate variants were verified by Sanger sequencing of his family members. RESULTS: The patient was found to harbor c.301C>T and c.188+1G>A compound heterozygous variants of the IL10RA gene, which has suggested the diagnosis of IL10RA-related very early-onset inflammatory bowel disease (VEOIBD). CONCLUSION The patient was diagnosed with IL10RA-related VEOIBD. The newly discovered c.188+1G>A variant has enriched the spectrum of IL10RA gene variations.
Genetic Testing ; Humans ; Infant ; Inflammatory Bowel Diseases/pathology* ; Mutation ; Exome Sequencing

Objective:To investigate the safety and consistency of domestic inhaled allergen extracts in the diagnosis of allergic diseases in children.Methods:Nine thousand five hundred and sixty-three children diagnosed with allergic diseases from September 2018 to June 2020 in Children′s Hospital Affiliated to Capital Institute of Pedia-trics were selected in this study, and all of them were subjected to skin prick test(SPT), and 415 of them were subjected to serum specific IgE (sIgE) test at the same time.The adverse events during SPT were recorded and the consistency of the results between SPT and sIgE test was analyzed.Results:There were 14 cases with adverse events in 9 563 patients, and the overall incidence was 0.15%.The incidence of adverse events was 0.07% (2/2 581 cases) in the 1-5 years old group, 0.19% (12/6 197 cases) in the 6-11 years old and 0 in the 12-17 years old group.The severity of all these events was grade Ⅰ.Out of the 14 cases with adverse events, only 1 case was considered to be related to allergen preparations, with the incidence being 0.01% (1/9 563 cases). The Kappa index showed that the results of dermatophagoides pteronyssinus, dermatophagoides farinae, alternaria and artemisia measured by SPT and sIgE were almost the same.There was high consistency between tree pollens and ragweed ( P<0.01), and moderate consistency between aspergillus fumigatus ( P<0.01). When the results of sIgE were used as the diagnostic criteria, the Youden index for the results of SPT ranged from 0.76 to 0.89, with aspergillus fumigatus (0.76) and tree pollens mixture (0.79) as the lowest.The positive likelihood ratio for most of the inhaled allergens was more than 10 except for tree pollens mixture (7.12) and dermatophagoides farinae (9.10). The negative likelihood ratio for most of the inhaled allergens was less than or equal to 0.1 except for aspergillus fumigatus (0.19). Conclusions:The domestic inhaled allergen extracts had high safety in the clinical application of SPT, and their results of SPT had good consistency with those of serum sIgE, which was conducive to the diagnosis and evaluation of allergic diseases in children.

Objective:Intensive physicians have relatively insufficient knowledge and experience in treating patients with decompensated schistosomiasis cirrhosis (DSC) admitted in intensive care unit (ICU), but are relatively familiar with patients with decompensated alcoholic cirrhosis (DAC). For this purpose, the clinical characteristics and prognosis of these patients were compared and analyzed.Methods:A retrospective analysis was performed from January 2013 to May 2019 in our hospital and Quzhou People’s hospital. The demographic data, laboratory examination, liver function, Child-Pugh classification, complications of cirrhosis, ultrasonic imaging gastroscopy manifestations were recorded and analyzed. In addition, the treatments and prognosis were also compared.Results:A total of 30 patients (12 males and 18 females) with DSC (aged 57-88) and 31 patients with DAC (aged 41-75) were collected. Compared with patients with DAC, DSC patients were more likely to have coronary heart disease, lower proportion of hyponatremia and lower need of ventilator support. Although the incidences of jaundice and hepatic encephalopathy were significantly reduced ( P<0.05), but parameters of liver function and coagulation were no significant differences in both groups ( P>0.05). B-mode ultrasound of liver in patients with DSC displayed more proportion of patchy and diffuse echo changes and liver volume reduction ( P<0.05), whereas the manifestations of gastroscope in both groups were similar. No significant difference in main treatment measures like uses of somatostatin and three-chamber and two-capsule tube was observed. After treatment, the stop time of gastrointestinal bleeding was similar between groups of DAC and DSC [1.25 (0.5-4.125) days vs. 1.75 (1-2.375) days] ( P>0.05). In addition, the length of ICU stay in DAC group was similar to DSC group [(4.96±3.58) days vs. (3.82±1.99) days], so did the 28-day mortality [14.29% (2/14) vs. 18.18% (2/11)] (both P>0.05). Conclusions:In genenal, patients with decompensated schistosomiasis cirrhosis have the similar clinical characteristics, major biochemical indicators and accessory examination results like ultrasound and gastroscopic examinations to patients with decompensated alcoholic cirrhosis. After timely treatments, both of these patients could achieve a good prognosis.

Objective: To investigate the clinicopathological features, diagnosis, differential diagnosis, treatment and prognosis of pediatric alveolar rhabdomyosarcoma (ARMS). Methods: The clinical and pathological data of 25 pediatric ARMS from 2008 to 2018 in Children′s Hospital of Fudan University were collected. This histomorphology was assessed, and FOXO1 gene rearrangement was detected with FISH. The treatment details and outcome were analyzed. Results: There were 13 males and 12 females, with ages range from 19 days to 14 years (median 6 years, mean 6.2 years). The ARMS were located in the limbs (13 cases), head and neck (4 cases), trunk (3 cases), abdominal cavity (3 cases), scrotum (1 case) and perianal region (1 case). The ARMS were classified histologically as classic group (18 cases), solid group (5 cases) and embryonic-alveolar mixed group (2 cases). The typical pathological characteristics were small dark round cells arranged in solid, glandular and papillary patterns. The tumor cells expressed ALK (D5F3) (21/25, 84.0%), muscle origin DES (23/25, 92.0%), myogenin (22/25, 88.0%), MYOD1 (19/25, 76.0%), and in some cases they also expressed neurogenic marker Syn (6/25, 24.0%). FOXO1 gene rearrangement was detected by FISH in 24/25 cases (96.0%). Conclusion Pediatric ARMS is rare and has unique clinicopathological characteristics, and needs to be differentiated from other common small round cell malignancies in children. ALK, DES, myogenin, MYOD1 immunohistochemistry and FOXO1 gene rearrangement are valuable aid in the diagnosis of ARMS.

Objective To investigate six yearsˊ outcome of children with asthma. Methods Children with asthma diagnosed in the epidemiological survey of childhood asthma in urban area of Beijing in 2010 were selected in this study. The field follow-up was conducted in 2016(6 years later)to obtain information about asthma attack,di-sease control,medication usage,and comorbidities of allergic diseases. The skin prick test,lung function and exhaled ni-tric oxide were performed during field follow - up stage. Results Sixty - four children,aged 7 - 19 years old [(13. 59 ± 3. 48)years old],completed the field follow-up survey. Among 35. 9%(23/64 cases)children,the asth-ma symptoms still persisted within 2 years(without remission),while 64. 1%(41/64 cases)children had no symp-toms within 2 years and above(remission). The course of children without remission(9. 0 years)was significantly lon-ger than that of children with remission(5. 5 years),and there was statistical significance(z＝ -3. 775,P<0. 001). Among the children without remission,the number of uncontrolled children in the last month accounted for 13. 0%(3/23 cases),partially controlled for 17. 4%(4/23 cases),and under controlled for 69. 6%(16/23 cases). The majority of unrelieved children were treated with intermittent control drug[43. 5%(10/23 cases)υs. 12. 2%(5/41 cases), χ2 ＝8. 036,P<0. 01]. A total of 47. 8%(11/23 cases)of children without remission were completely unaffected by physical activity,while 92. 7%(38/41 cases)of children with clinical remission were completely unaffected by physi-cal activity(χ2 ＝14. 117,P<0. 001). The proportion of children without remission with eczema and atopic dermatitis lasting longer than 6 years old was 56. 5%(13/23 cases),which was significantly higher than that of children with re-mission[29. 3%(12/41 cases),χ2 ＝4. 598,P<0. 05]. In 2010 and 2016,there were 46 children with allergen re-sults. Compared with 2010,the proportion of animal fur and pollen allergy increased in 2016[19. 6%(9/46 cases)υs. 52. 2%(24/46 cases),36. 9%(17/46 cases)υs. 67. 4%(31/46 cases)],and there were statistical significances (χ2 ＝10. 632,8. 538,all P<0. 01). In 2016,the number and degree of total allergens in the clinical unrelieved chil-dren were higher than that in the relieved children. Further analysis showed that the unrelieved children had higher cigarette allergy positivity(21. 7% υs. 2. 5%,χ2 ＝4. 239,P<0. 05). There was no significant difference in lung func-tion and exhaling nitric oxide between the clinical unrelieved children and the relieved children. Conclusions Six years later,the proportion of animal fur and pollen allergy increased in children with asthma. Compared with children with remission,the children without remission had more treatment with intermittent control drug,with higher proportion of eczema and atopic dermatitis over six years old,and higher percentage of cigarette allergy positivity.