Objective To observe the effect of electronic colonoscopy on heart rate,blood pressure,arterial hemoglobin oxygen saturation and electrocardiography in elderly patients.Methods 60 patients were divided into two groups,elderly group (over 60 years old,n=30) and non-elderly group (＜ 60 years old,n =30).The changes in heart rate,blood pressure,arterial hemoglobin oxygen saturation and electrocardiography before and during colonoscopy were compared between the two groups.The increased heart rate was observed in both groups(the non-elderly group:t=10.746,P＜0.001; the elderly group:t=4.892,P＜0.001),and the increment of heart rate was higher in non-elderly group than in elderly group [(6.9±3.7) /min vs.(4.0±3.8) /min,t=2.88,P＜ 0.01].Results Systolic and diastolic pressures were increased in both groups during colonoscopy as compared with pre-colonoscopy(t=3.88,5.88,6.55 and 7.43,respectively,P＜0.01 or 0.001),but there were no significant differences in the increment between the two groups(t=0.31 and 0.32,bothP＞0.05).Arterial hemoglobin oxygen saturation was decreased in both groups during colonoscopy as compared with pre-colonoscopy(t=3.05 and 2.98,P＜0.05 or 0.01),and there was no significant difference in the decrease between the two groups(t=-0.13,P＞0.05).Abnormal ECG can be detected in both groups,but had no statistical significance between the two groups (20.0％ vs.16.7％,x2 =0.11,P＞ 0.05).Conclusions Electronic colonoscopy can be performed relatively safely in the elderly.

Objective To clinically observe and verificate the advantages of treating infantile anorexia of spleen-dysfunction in transportation with infantile massage and Chinese medicine based on the thought of “invigo-rating spleen and nourishing qi”. Methods Multi-central large-sample randomized controlled trial was carried out in Guangzhou, Shenzhen, and Foshan. Five hundreds cases of infantile anorexia of spleen-dysfunction in transportation were randomized into infantile massage group, Chinese medicine group, infantile massage combined with Chinese medicine group and Western medicine group and two sessions of treatment were required in each group. Separately, during the enrollment, after 2 sessions of treatment, infantile anorexia signs and symptoms scale , the related therapeutic effect criterion from clinical guideline of new drugs for traditional Chinese medicine, the expression level of hemoglobin and blood zinc were adopted for efficacy assessment. Results A mong 4 groups , the recovery rate and the total effective rate of infantile massage combined with Chinese medicine group were better than those of other groups (P < 0.05). The expression level of hemoglobin and blood zinc of 4 groups both increased obviously (all P < 0.01), but more improvement was found in infantile massage combined with Chinese medicine group (both P < 0.05). Conclusion The treatment of infantile anorexia with infantile massage and Chinese medicine based on the thought of invigorating spleen and nourishing qi has a significant effect.

Objective To observe the changes of HNP1-3 and NE content in serum quantitatively during perioperation of cardiac surgery under cardiopulmonary bypass(CPB),and to explore the role of changes of HNP1-3 and NE content in early diagnosis of system inflammatory response syndromes(SIRS)after cardiopulmonary bypass.Methods The contents of HNP1-3 and NE in serum during perioperation of 21 cardiac surgeries under cardiopulmonary bypass were measured quantitatively using ELISA method,and the contents of CK,CK-MB and C-RP in serum were measured at the same time points as that of HNP1-3 and NE.Results The contents of HNP1-3 and NE in serum were 54.55?26.45 ng/ml and 41.09?9.93 ng/ml respectively before CPB,and they were 435.45?500.13 ng/ml and 250.91?97.21 ng/ml respectively 0.5 h after CPB which were significantly higher than that before CPB(P

OBJECTIVETo investigate whether or not the gamma-aminobutyric acid (GABA) receptor subtype A genes GABRA5 and GABRB3 are associated with childhood absence epilepsy (CAE).

METHODSTwo microsatellite DNA, GABRA5 and GABRB3, adjoining to chromosome 15q11.2-q12 were used as genetic markers. Both case-control study and transmission/disequilibrium test (TDT) as well as fluorescence-based semi-automated genotyping technique were used in 90 trios with CAE and 100 controls to conduct association analysis.

RESULTSThe allele frequencies of the 2 microsatellite DNA in Chinese normal population are in good agreement with Hardy-Weinberg equilibrium. The polymorphism information content of microsatellite DNA GABRA5 and GABRB3, are 0.80 and 0.66 respectively. The allele 2 frequency of microsatellite DNA GABRA5 and the allele 5 frequency of microsatellite DNA GABRB3 are significantly higher in CAE patients than those in normal controls(P<0.001).

CONCLUSIONBoth microsatellite DNA GABRA5 and GABRB3 are good genetic markers. The gamma-aminobutyric acid receptor subtype A genes GABRA5 and GABRB3 may be directly involved either in the etiology of CAE or in linkage disequilibrium with disease-predisposing sites.

Adolescent ; Alleles ; Case-Control Studies ; Child ; DNA ; genetics ; Epilepsy, Absence ; genetics ; Female ; Gene Frequency ; Humans ; Linkage Disequilibrium ; Male ; Microsatellite Repeats ; Receptors, GABA-A ; genetics ; Receptors, GABA-B ; genetics

OBJECTIVE: To investigate the expression of breast cancer metastasis suppressor 1 (BRMS1) gene protein and the expression of BRMS1 gene promotor area methylation in supraglottic cancer and to evaluate its clinical significance. METHOD: The expression of BRMS1 protein and BRMS1 gene promotor area methylation were examined by using Western blotting method and methylation-specific polymerase chain reaction(MSP) method in 70 cases of supraglottic cancer tissues and 60 cases of their surrounding laryngeal normal mucosa tissues (LNT) and 44 cases of cervical lymph node metastasis of supraglottic cancer. RESULT: Western blot results indicate that BRMS1 protein expression is declined expression level in supraglottic cancer tissue than the expression of BRMS1 protein in LNT of supraglottic cancer. Compared with para carcinoma normal laryngeal mucous tissue, BRMS1 gene protein in supraglottic cancer tissue primary lesion decreased obviously, and it is decreased more obviously in cervical lymph node metastasis lesion, the discrepancy is notable (P < 0.05). MSP results indicate BRMS1 gene promotor methylation is coordinated with its down-expression in supraglottic cancer tissue. BRMS1 promotor area methylation analysis reveal that there were 34 patients with methylation in 70 patients' supraglottic cancer tumor primary lesion, hold 48.6% (34/70); 32 patients have methylation in 44 patients' cervical metastasis lymph node tissue, hold 72.7% (32/44); however, there is no methylation in 60 para carcinoma tissue (r(s) = 0.66, P < 0.05). CONCLUSION The expression of BRMS1 protein in supraglottic cancer is significantly decreased. It had correlation with clinical stage and pathologic differentiation and cervical lymph node metastasis of supraglottic cancer. BRMS1 gene promotor methylation is related with down-expression of BRMS1 gene protein of supraglottic cancer. Maybe BRMS1 gene promotor methylation is one of the reasons of its down-expression.
Adult ; Aged ; Aged, 80 and over ; Carcinoma, Squamous Cell ; metabolism ; pathology ; DNA Methylation ; Female ; Glottis ; Head and Neck Neoplasms ; metabolism ; pathology ; Humans ; Laryngeal Neoplasms ; metabolism ; pathology ; Lymph Nodes ; pathology ; Lymphatic Metastasis ; Male ; Middle Aged ; Neoplasm Proteins ; metabolism ; Neoplasm Staging ; Promoter Regions, Genetic ; RNA, Messenger ; genetics ; Repressor Proteins ; Squamous Cell Carcinoma of Head and Neck

Objective:To explore the performance and value of urine DNA methylation technology in non-invasive diagnosis of upper tract urothelial carcinoma (UTUC).Methods:A retrospective analysis was conducted on the of 107 patients with UTUC (UTUC group) and 121 patients with benign upper urinary tract diseases (control group) admitted to Sun Yat sen Memorial Hospital and Peking University First Hospital from August 2019 to March 2021. There were 64 males (59.8%) and 43 females (40.2%) in the UTUC group, with the age of (67 ± 10) years old.There were 50 cases (46.7%) of ureteral cancer, 42 cases (39.3%) of renal pelvis cancer, and 15 cases (14.0%) of renal pelvis cancer combined with ureteral cancer.45 cases (42.0%) of non muscular infiltrative UTUC, 51 cases (47.7%) of muscular infiltrative UTUC, and 11 cases (10.3%) of unclear stage.There were 14 cases (13.1%) with low tumor grade and 93 cases (86.9%) with high grade. There were 81 males (66.9%) and 40 females (33.1%) in the control group, with the age of (52 ± 14) years old.There were 104 cases (86.0%) of urinary stones, 13 cases (10.7%) of ureteral stenosis or polyps, and 4 cases (3.3%) of simple hydronephrosis. Sixty cases (56.1%) in the UTUC group and 11 cases (9.1%) in the control group underwent urine cytology examination. Seventy-two cases (67.3%) in the UTUC group and 9 cases (7.4%) in the control group underwent urine in situ fluorescence hybridization (FISH) examination. Quantitative PCR detection based on ONECUT2 and VIM gene methylation was performed on urine sediment samples from both groups. If ≥ 1 gene was positive, it was determined as positive, and if both genes were negative, it was determined as negative. The sensitivity, specificity, accuracy, positive predictive value, and negative predictive value of urine cytology, FISH, and urine DNA methylation tests were evaluated based on pathological or clinical diagnosis criteria.Results:The overall sensitivity of urine DNA methylation test was 84.1%, specificity was 90.9%, accuracy was 87.7%, positive predictive value was 89.1%, and negative predictive value was 86.6%, respectively. It's sensitivity and accuracy were significantly higher than that of urine cytology (43.3%, P<0.05)(52.1%, P<0.05)and FISH (69.4%, P<0.05)(71.6%, P<0.05). The accuracy was significantly higher than that of urine cytology (52.1%, P<0.05) and FISH (71.6%, P<0.05); There was no statistically significant difference in specificity between urine cytology (100.0%) and FISH (88.9%) ( P>0.05). The results of subgroup analysis showed that the diagnostic sensitivity of urine DNA methylation test for tumors in different locations was 74.0% (37/50 cases) for ureteral cancer, 90.5% (38/42 cases) for renal pelvis cancer, and 100.0% (15/15 cases) for renal pelvis cancer combined with ureteral cancer.The diagnostic specificity for different benign diseases was 92.3% (96/104 cases) for urinary stones, 84.6% (11/13 cases) for ureteral stenosis and polyps, and 75.0% (3/4 cases) for simple hydronephrosis. The diagnostic sensitivity of urine DNA methylation test for low-grade UTUC was 64.3%, significantly higher than that of urine cytology (20.0%) and FISH(36.4%)( P<0.05). The diagnostic sensitivity for high-level UTUC was 87.1%, which was higher than that of urine cytology (48.0%) and FISH (75.4%)( P<0.05). The diagnostic sensitivity for non muscular invasive UTUC was 77.8%, which was significantly higher than that of urine cytology (29.2%) and FISH (64.5%)( P<0.05). The diagnostic sensitivity for myometrial infiltrative UTUC was 88.2%, which was superior to urine cytology (53.6%) and FISH (72.7%)( P<0.05). The sensitivity and specificity of urine DNA methylation test in Sun Yat-sen Memorial Hospital of Sun Yat-sen University were 83.0% and 92.0%, respectively.It’s sensitivity and specificity in Peking University First Hospital were 85.2% and 85.7%, respectively. Conclusions:The urine ONECUT2 and VIM gene methylation assay have high sensitivity and accuracy in upper urinary tract urothelial carcinoma, which are superior to urine cytology as well as FISH.

Objective:To analyze the difference of clinical characteristics and outcomes of infants with moderate and severe pediatric acute respiratory distress syndrome(PARDS)diagnosed according to baseline oxygenation index(OI) in pediatric intensive care unit(PICU).Methods:Second analysis of the data collected from the "Efficacy of pulmonary surfactant (PS) in the treatment of children with moderate and severe ARDS" program.Retrospectively compare of the differences in clinical data such as general condition, underlying diseases, OI, mechanical ventilation, PS administration and outcomes among infants with moderate and severe PARDS divided by baseline OI who admitted to PICUs at 14 participating tertiary hospitals from 2016 to December 2021.Results:Among the 101 cases, 55 cases (54.5%) were moderate and 46 cases (45.5%) were severe PARDS.The proportion of male in the severe group (50.0% vs.72.7%, P=0.019) and the pediatric critical illness score(PCIS)[72 (68, 78) vs.76 (70, 80), P=0.019] were significantly lower than those in the moderate group, while there was no significant difference regarding age, body weight, etiology of PARDS and underlying diseases.The utilization rate of high-frequency ventilator in the severe group was significantly higher than that in the moderate group (34.8% vs.10.9%, P=0.004), but there was no significant difference in PS use, fluid load and pulmonary complications.The 24 h OI improvement (0.26±0.33 vs.0.04±0.34, P=0.001) and the 72 h OI improvement[0.34 (-0.04, 0.62) vs.0.15 (-0.14, 0.42), P=0.029)]in the severe group were significantly better than those in the moderate group, but there was no significant difference regarding mortality, length of hospital stay and intubation duration after diagnosis of PARDS between the two groups. Conclusion:In moderate and severe(divided by baseline OI) PARDS infants with invasive mechanical ventilation, children in severe group have better oxygenation improvement in the early stage after PARDS identified and are more likely to receive high frequency ventilation compared to those in moderate group.Baseline OI can not sensitively distinguish the outcomes and is not an ideal index for PARDS grading of this kind of patient.

Objective: To summarize the clinical and genetic features of β-propeller protein-associated neurodegeneration (BPAN). Methods: The clinical data of 17 patients with BPAN with WDR45 gene variants were retrospectively collected at Children’s Hospital of Fudan University, Peking University First Hospital, Capital Institute of Pediatrics, Shengjing Hospital of China Medical University and Shanghai Children's Hospital from June 2016 to December 2018, and their clinical manifestations, electroencephalogram, neuroimaging and genetics were analyzed. Results: Seventeen cases (13 females, 4 males), aged 1.1-8.8 years, were included. The median age of seizure onset was 14.5 months, from 3 months to 24 months of age, manifested with epileptic spasm in 6 cases and focal seizures in 5 cases. Eight patients had only one seizure type and 8 patients had two or more seizure types. Nine patients had complete remission of seizures. All 16 patients with seizures had developmental delay before the seizure onset, of whom 13 patients had moderate to severe seizures. The brain magnetic resonance imaging (MRI) was abnormal in 13 patients, including cerebral atrophy (10 cases) and thinning of the corpus callosum (9 cases). The brain magnetic susceptibility weighted imaging (SWI) in preschool stage showed prominent T2 hypointense signals in bilateral globus pallidus and brainstem ventral in two cases. Five seizure types (spasm, focal, absence, myodonic and generalized tonic clonic seizures)were found on ictal electroencephalogram(EEG) recordings. Compared to female patients(17(6-24) months of ege), male cases had earlier seizure onset (3, 4, 5, 18 months of age) . All patients had de novo variations in WDR45(6 nonsense, 4 frameshift, 3 missense and 4 splicing variations), with hemizygous variants in 3 males, mosaic variants in a male and heterozygous variants in 13 females, within which 5 variations had not been reported (c.977-1C>T,c.976+1G>C,c.10C>T,c.806del and c.110T>C). Conclusions The patients with BPAN have profound developmental delay and are vulnerable to seizures. The male patients with BPAN tend to have more severer clinical phenotype than females. Early brain SWI could facilitate the timely diagnosis of this disease.

Humans ; Urinary Bladder Neoplasms/pathology* ; Carcinoma, Transitional Cell/pathology* ; Genetic Markers ; Biomarkers, Tumor/genetics* ; Urothelium/pathology*