Clinical data of 210 patients with early colorectal cancer and precancerous lesion treated by endoscopic submucosal dissection (ESD) in the Digestive Endoscopy Center of the Seventh Medical Center of Chinese PLA General Hospital from January 2015 to March 2018 were collected and analyzed retrospectively. Patients were divided into two groups according to the age: the elderly group (≥65 years old, 100 cases) and the non-elderly group (<65 years old, 110 cases). The en bloc resection rate, complete resection rate,and curative resection rate of the elderly group were 92.0% (92/100), 91.0% (91/100) and 89.0% (89/100), respectively. The above indicators of the non-elderly group were 90.9% (100/110) ( P=0.972), 90.0% (99/110) ( P=0.991) and 88.2% (97/110) ( P=1.000), respectively. The incidence of intraoperative perforation in the elderly group was 4.0% (4/100) and in the non-elderly group was 6.4% (7/110) ( P=0.543). Delayed postoperative bleeding rate was 2.0% (2/100) in the elderly group, and 0 (0/110) in the non-elderly group ( P=0.226). ESD is effective and safe in treating early colorectal cancer and precancerous lesion in elderly patients.

Inhibition of human epidermal growth factor receptor 2 mediated cell signaling pathway is an important therapeutic strategy for HER2-positive cancers. Although monoclonal antibodies are currently used as marketed drugs, their large molecular weight, high cost of production and susceptibility to proteolysis could be a hurdle for long-term application. In this study, we reported a strategy for the development of artificial antibody based on

Objective:To analyze the clinical characteristics and SLC25A13 gene mutation in children with neonatal intrahepatic cholestasis caused by citrin deficiency(NICCD).Methods:The data of 18 children diagnosed with NICCD in Xi′an Children′s Hospital from January 2014 to December 2018 were collected.The clinical manifestations, biochemical characteristics, SLC25A13 gene mutation and prognosis were analyzed.Results:All the 18 cases of NICCD were from North China and the age of initial diagnosis averaged(63.4±19.5)days.The clinical manifestations included jaundice(100%), light yellow or white stool(38.9%), growth retardation(27.8%)and so on.All patients had cholestasis.Of 18 cases, the levels of glutamyltranspeptidase, total bile acid and alpha fetoprotein were all increased, and serum albumin was decreased.Elevated aspartate aminotransferase(94.4%), elevated glutamic pyruvic transaminase(72.2%), prolonged prothrombin time(88.9%), hyperlactemia(83.3%), hypoglycemia(77.8%), anemia(66.7%)and other biochemical abnormalities were observed.Citrulline and other serum amino acids of all cases were elevated in blood samples by tandem mass spectrometry.The increase of 4-hydroxyphenyllactate and 4-hydroxyphenylpyruvate was found in 70%(7/10)urine samples by gas chromatography.Age was negatively correlated with total bile acid( r=-0.469, P=0.049), and positively correlated with blood ammonia, threonine, methionine, ornithine and tyrosine( r=0.472, 0.690, 0.698, 0.678 and 0.769, respectively, P<0.05). A total of 16 SLC25A13 gene mutations were detected, of them c. 851_854del(33.3%)and c. 1638_1660dup(19.4%)were the most common.c.1841+ 3_1841+ 4del, c.980_981del(p.E327Vfs*45)and c. 602A>T(p.E201V)were novel mutations.Among the 17 children who were followed up, 1 case died and 16 cases had normal biochemical parameters within 1 year. Conclusion:The characteristic biochemical changes are helpful for early recognition of NICCD.The prognosis of NICCD is good if the treatment is appropriate and timely.c.851_854del and c. 1638_1660dup are high-frequency mutations of SLC25A13 gene in north China.

Objective:To evaluate the application of visual feedback coaching method, which is embedded in an optical surface monitoring system, in deep inspiration breath holding during the radiotherapy in left breast cancer patients after breast-conserving surgery.Methods:Thirty patients with left breast cancer, who were scheduled to receive the whole breast radiotherapy after breast-conserving surgery, met the requirements of deep inspiration breath holding after respiratory coaching with the visual feedback coaching module in the optical surface monitoring system. Active breathing control equipment was used to control breath-holding state and CT simulation was performed. During treatment, optical surface monitoring system was used to guide radiotherapy. All patients were randomly divided into two groups. In group A ( n=15), visual feedback respiratory training method was utilized and not employed in group B ( n=15). In group A, the visual feedback coaching bar of the optical surface monitoring system was implemented, while audio interactive method was employed to guide patients to hold their breath. Real-time data of optical body surface monitoring were used to compare the interfraction reproducibility and intrafraction stability of breath holding fraction between two groups. Besides, the number of breath holding and treatment time per fraction were also compared. GraphPad prism 6.0 software was used for data processing and mapping, and SPSS 21.0 software was used for analyzing mean value and normality testing. Results:Compared with the control group, the reproducibility in the experiment group was reduced from 1.5 mm to 0.7 mm, the stability was reduced from 1.1 mm to 0.8 mm, the mean number of breath holding required per fraction was decreased from 4.6 to 2.4, the mean beam-on time per fraction from 336 s to 235 s, and the treatment time per fraction was shortened from 847 s to 602 s (all P<0.05), respectively. Conclusions:The application of visual feedback coaching method can improve the reproducibility and stability of breath holding during radiotherapy for left breast cancer, and it can also effectively reduce the number of breath holding and shorten the treatment time per fraction.

Objective:To investigate the expressions and significances of autophagy-related genes Beclin-1, LC3 and p62 in esophageal squamous cell carcinoma (ESCC).Methods:The clinical data of 112 patients with primary ESCC who underwent surgery at the 81st Group Army Hospital of Chinese PLA from January 2015 to December 2016 were retrospectively analyzed. Immunohistochemistry was used to examine the expressions of Beclin-1, p62 and LC3 proteins in 112 ESCC tissues and 31 adjacent normal esophageal mucosa tissues. Furthermore, the expressions of the above three autophagy-related markers in ESCC and the relationship between their expressions and the clinicopathological characteristics of patients were analyzed.Results:The positive expression rates of Beclin-1, LC3 and p62 in ESCC tissues were 32.14% (36/112), 37.50% (42/112) and 63.39% (71/112), The positive expression rates of Beclin-1, LC3 and p62 in adjacent normal esophageal mucosa tissues were 61.29% (19/31), 64.52% (20/31) and 32.26% (10/31), and the differences were statistically significant ( χ2 values ??were 8.715, 7.216 and 9.584, all P < 0.01). The positive expression rates of Beclin-1 and LC3 in ESCC were lower than those in adjacent normal esophageal mucosa tissues, and the positive expression rate of p62 in ESCC was higher than that in adjacentnormal esophageal mucosa tissues. In ESCC patients, the expression of Beclin-1 was related to histological grade, infiltration depth, TNM staging and lymph node metastasis (all P < 0.05); the expression of LC3 was related to infiltration depth and TNM staging (both P < 0.01); the expression of p62 was related to lymph node metastasis ( P < 0.01). In ESCC, the expression of LC3 was positively correlated with the expression of Beclin-1 ( r = 0.731, P = 0.001), and negatively correlated with the expression of p62 ( r = -0.215, P = 0.023). Conclusions:Autophagy plays a certain role in the occurrence and development of ESCC. Combined detection of autophagy-related genes Beclin-1, p62 and LC3 can assist clinical diagnosis and guide follow-up comprehensive treatment.

OBJECTIVE: To analyze the clinical features, biochemical characteristics and molecular pathogenesis of a girl with isovaleric acidemia. METHODS: Clinical features, blood spot amino acid profiles and urinary organic acid profiles of the patient were analyzed. Targeted capture, next generation sequencing and Sanger sequencing were carried out to detect potential variant of the IVD gene. RESULTS: The patient presented with poor weight gain, poor feeding, lethargy, and a "sweaty feet" odor 10 days after birth. Biochemical test suggested hyperammonemia. Blood spot amino acid profiles displayed a dramatic increase in isovalerylcarnitine (C5: 3. 044, reference range 0.04 - 0.4 μmol/L). Organic acid analysis of her urine sample revealed a high level of isovaleric glycine (669. 53, reference range 0 - 0.5). The child was ultimately diagnosed with isovaleric acidemia, and was found to harbor a paternally derived heterozygous variant c.149G>A (p.R50H) and a maternally derived heterozygous variant c.1123G>A (p.G375S) of the IVD gene. Her elder brother was a heterozygous carrier of c.1123G>A (p.G375S) variant. The c.149G>A (p.R50H) was a known pathogenic variant, while the c.1123G>A (p.G375S) variant was previously unreported. CONCLUSION The pathogenesis of the patient was delineated from the perspective of genetics, which has provided a basis for clinical diagnosis, treatment as well as genetic counseling.
Amino Acid Metabolism, Inborn Errors/genetics* ; Child ; Female ; Heterozygote ; Humans ; Isovaleryl-CoA Dehydrogenase/genetics* ; Male ; Mutation

OBJECTIVE: To explore the genetic basis of a pedigree affected with Alagille syndrome (ALGS). METHODS: Targeted capture and next generation sequencing was carried out for the proband. Candidate variants were verified by Sanger sequencing among his family members. Their pathogenicity of the variant was predicted with bioinformatic analysis. Clinical characteristics and genotype-phenotype correlation were analyzed. RESULTS: The proband, his elder sister and mother were found to carry a heterozygous c.1270dupG (p.Ala424Glyfs*5) variant of the JAG1 gene, which may lead to premature termination of translation and a truncated protein with loss of function. The variant was unreported previously. The phenotypes of the proband (cholestasis, pulmonary artery stenosis and peculiar faces) have differed from those of his elder sister (cholestasis with pruritus, posterior embryonic ring of cornea) and mother (with no clinical manifestation). Cholestasis and peculiar face of the proband became insignificant with age. CONCLUSION The c.1270dupG (p.Ala424Glyfs*5) variant of the JAG1 gene probably underlay the ALGS in this pedigree with incomplete penetrance.
Aged ; Alagille Syndrome/genetics* ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Pedigree ; Phenotype

Objective:To explore the influencing factors of postoperative coping style of patients with esophageal cancer.Methods:This study was a cross-sectional study. From July 2018 to July 2020, convenience sampling was used to select 65 patients with esophageal cancer who underwent radical surgery for esophageal cancer in a ClassⅢ Grade A hospital in Henan Province as the research object. The General Information Questionnaire and the Chinese version of the Medical Coping Modes Questionnaire (MCMQ) were used to investigate the patients one day before the patients were discharged. Single factor analysis was used to analyze influencing factors. A total of 65 questionnaires were distributed and 65 valid questionnaires were returned with the valid response rate of 100%.Results:The results of single factor analysis showed that there were statistically significant differences in the confrontation dimension scores of patients with different ages, education levels, and family monthly income per capita ( P<0.05) . There were statistically significant differences in the avoidance dimension scores of patients with different genders and ages ( P<0.05) . There were statistically significant differences in the resignation dimension scores of patients with different ages, occupational status, and family monthly income per capita ( P<0.05) . Conclusions:Age, gender, occupational status, education level, and family monthly income per capita are the influencing factors of postoperative coping style of patients with esophageal cancer. Medical and nursing staff can take targeted intervention measures based on their influencing factors and guide patients to adopt a positive coping style to face the disease.

Objective:To establish the basic procedures of the application of optical surface monitoring system (OSMS) in the deep inspiration breath hold (DIBH) radiotherapy for patients with left sided breast cancer and compare the performance of OSMS and cone-beam CT (CBCT) in the determination of the set-up errors of DIBH radiotherapy for patients with left sided breast cancer.Methods:Twenty patients with left sided breast cancer received DIBH radiotherapy. Through the registration of CBCT images with the planning CT images, and the registration of OSMS radiography images with the outer contour of the body surface, translational set-up errors and rotational errors were determined along the lateral-medial ( Rx), superior-inferior ( Ry) and anterior-posterior ( Rz) directions. Pearson correlation analysis was performed to evaluate the correlation of the set-up errors determined by two methods, and Bland- Altman plot analysis was used to assess the coincidence of these two methods. Results:Two methods were positively correlated. The Rz volume was 0.84, 0.74 and 0.84 in the x, y and z directions, and 0.65, 0.41 and 0.54 in the Rx, Ry and Rz directions, respectively (all P<0.01). The 95% CI of agreement were within preset 5 mm tolerance (-0.37-0.42cm, -0.39-0.41cm, -0.29-0.49cm ) in x, y and z directions for two methods. The 95% CI of agreement were within preset 3 ° tolerance -2.9°-1.4°, -2.6°-1.4°, -2.4°-2.5°in Rx, Ry and Rz directions for two methods. The system errors of 20 patients with left sided breast cancer receiving DIBH radiotherapy were <0.18cm and the random errors were <0.24cm. Conclusions:OSMS is equivalent to CBCT in the determination and stimulation of set-up errors for patients with left sided breast cancer receiving DIBH radiotherapy. The combination of CBCT and OSMS is a safe and reliable method.

Betacoronavirus ; Coronavirus Infections ; Humans ; Pandemics ; Pneumonia, Viral ; Single-Cell Analysis