Objective To explore the clinical value of fecal calprotectin (FCP) in peptic ulcer (PU) as an non-invasive indicator of disease activity compared with gastroscope. Methods The study was conducted in 62 patients with PU confirmed by endoscopy ( PU group) and 30 subjects with normal findings under endoscopy ( control group). Fecal sample ( weight 5-10 g) was collected within 3 days after endoscopy and FCP was measured by emzyme-linked immunosorbent assay (ELISA). The case history and clinical data were collected as well. Results The level of FCP in PU group was significantly higher than that in control group ( 154. 72 μg/g vs. 25. 18 μg/g, P < 0.001 ). In patients with PU at active stage ( n = 32), the level of FCP was significantly higher than that at scar stage (n =30,318.34 μg/g vs. 54. 10 μg/g, P <0. 01 ), and that in control group (25.18 μg/g, P <0.01), while there was no significant difference in FCP between the latter two groups ( P >0. 05 ). The level of FCP had no significant correlation with the location, size or number of the ulcer. Among patients in PU group, the level of FCP in patients presented with haematemesis or melena ( n = 20) was significantly higher than that in patients presented with other symptoms ( n = 42, 1257. 41 μg/g vs. 92. 77 μg/g, P < 0. 01 ). Conclusion The level of FCP is closely correlated with the activity of PU, which is significantly higher at active stage than that at scar stage, as well as in PU patients with bleeding than those without. Measurement of FCP is a convenient and noninvasive method with well compliance of patients, which might be used as an indicator of disease activity in PU.

Objective To estimate prenatal diagnoses strategy with abnormal results of non-invasive prenatal testing (NIPT) based on a case of mosaic for trisomy 22.Methods The pregnanct woman was recruited from Department of Prenatal Diagnosis Center of Xinhua Hospital.Ultrasound scans suggested fetal nuchal translucency was 3.5 mm.Peripheral venous blood was drawn from the pregnant woman for NIPT at 12+2 weeks gestation.For further prenatal diagnosis, amniocentesis was conducted at 16+2 weeks gestation, and karyotype analysis combination with chromosome microarray analysis (CMA) was executed to analysis amniocytes.Results NIPT results suggested that chromosome 21, 18 and 13 were normal and supplementary reports suggested that chromosome 22 were slightly above the normal range.Karyotype analyzed 35 cultured cells.Each of them revealed a normal female karyotype.However, CMA results suggested that chromosome 22 gain mosaic and its copy number was 2.26.The fetus was diagnosed as high possibility of mosaic for trisomy 22.Conclusions Combined with the NIPT results, which was slightly gain mosaic of chromosome 22, a prenatal diagnosis strategy were proposed.When NIPT results suggest chromosomal abnormities, karyotype analysis combination with CMA to diagnose were recommended.

Skin injuries always disturb people's normal life, even seriously damage the body health. Thus, it is very necessary to use medical dressings to protect and treat skin wounds. Compared with traditional dressings, novel biological dressings develop more rapidly and their application scope is gradually expanding. Collagen is a natural biological material that can promote wound healing and it also has unique functional advantages in care and treatment. At present, collagen-based medical dressings has become one of the preferred choices to assist wound healing. The authors summarize the source, functional advantages and product classification of collagen-based dressings, and introduce the characteristics and applications of various collagen-based dressings, to provides a reference for further research of the collagen-based wound dressings.

PURPOSE: Four polymorphisms, -765G>C, -1195G>A, 8473T>C, and Val511Ala, in the cyclooxygenase-2 (COX-2) gene were identified to be associated with colorectal cancer (CRC) risk. However, the results are inconsistent. The objective of this meta-analysis was to evaluate the association between these four polymorphisms and the risk of CRC. MATERIALS AND METHODS: All eligible case-control studies published up to December 2012 on the association between the four polymorphisms of COX-2 and CRC risk were identified by searching PubMed and Web of Science. The CRC risk associated with the four polymorphisms of the COX-2 gene was estimated for each study by odds ratio (OR) together with its 95 % confidence interval (CI), respectively. RESULTS: A total of 15 case-control studies were included. Overall, no evidence has indicated that the -1195A allele, -765C allele, 8473C allele, and 511Ala allele are associated with susceptibility to CRC (-1195G>A: OR=1.11, 95 % CI: 0.82-1.51, p=0.78; -765G>C: OR=1.08, 95 % CI: 0.96-1.21, p=0.07; 8473T>C: OR=1.03, 95 % CI: 0.89-1.18, p=0.91; Val511Ala: OR=0.71, 95 % CI: 0.46-1.09, p=0.94). However, stratified analysis with ethnicity indicated that individuals with -765GC or GC/CC genotypes had an increased risk of CRC among Asian populations (GC vs. GG: OR=1.05, 95 % CI: 0.87-1.28, p=0.03; GC+CC vs. GG: OR=1.08, 95 % CI: 0.96-1.21, p=0.07). CONCLUSION: This meta-analysis indicated that -765G>C polymorphism was significantly associated with susceptibility to CRC in Asian populations.
Asian Continental Ancestry Group ; Case-Control Studies ; Colorectal Neoplasms/*genetics ; Cyclooxygenase 2/*genetics ; Genetic Predisposition to Disease/genetics ; Humans ; Polymorphism, Genetic/*genetics

Objective:To investigate the clinical characteristics of asymptomatic carriers with 2019 novel coronavirus (2019-nCoV), and to provide clinical guidance for the management of asymptomatic infection with 2019-nCoV.Methods:The clinical data of 663 patients with confirmed coronavirus disease 2019 (COVID-19) admitted to Renmin Hospital of Wuhan University from January 11 to February 6, 2020 were collected. Patients were divided into asymptomatic group (21 cases) and symptomatic group (642 cases) according to the diagnostic criteria. General conditions, clinical classification, death, chest computed tomograph (CT) and laboratory results of patients were retrospectively collected. Mann-Whitney U test, chi-square test and Fisher exact test were used for statistical analysis. Results:All 663 patients were positive for 2019-nCoV nucleic acid tests. The age of patients in the asymptomatic group were significantly younger than those in symptomatic group (35.0 (31.5, 58.0) years old vs 58.5 (45.0, 69.0) years old, U=4 234.500, P=0.002). The proportion of patients <30 years old in the two groups was significantly different (19.0%(4/21) vs 6.1%(39/642), Fisher exact test, P=0.047). There were 15 women (71.4%) in the asymptomatic group and 327 women (50.9%) in the symptomatic group, while the difference of gender distributions was not statistically significant ( χ2=3.420, P=0.064). In addition, among patients with asymptomatic infection, the proportions of mild/ordinary, severe and critical patients were 10 cases (47.6%), 10 cases (47.6%), and one case (4.8%), respectively, which were not significantly different from those in symptomatic group (244 cases (38.0%), 305 cases (47.5%) and 93 cases (14.5%), respectively, χ2=1.847, P=0.397). As of February 9, one(4.8%) mild/ordinary patient in the asymptomatic group died who had malignant tumor. Twenty-four (3.7%) patients in the symptomatic group died including two mild/ordinary and 22 critical patients. There was no significant difference in mortality between the two groups(Fisher exact test, P=0.560). CT examination was performed on 594 patients, and 591 cases (99.5%) showed unilateral or bilateral pneumonia, and three cases (0.5%) showed normal. Conclusions:Patients with asymptomatic infection with 2019-nCoV are younger than symptomatic patients, and there are more patients under 30 years old in the asymptomatic group. The absence of clinical symptoms is not significantly associated with clinical classifications and mortality in COVID-19 patients.

PURPOSE: Vesicle-associated membrane protein 8 (VAMP8) is a soluble N-ethylmaleimide-sensitive factor receptor protein that participates in autophagy by directly regulating autophagosome membrane fusion and has been reported to be involved in tumor progression. Nevertheless, the expression and prognostic value of VAMP8 in breast cancer (BC) remain unknown. This study aimed to evaluate the clinical significance and biological function of VAMP8 in BC. METHODS: A total of 112 BC samples and 30 normal mammary gland samples were collected. The expression of VAMP8 was assessed in both BC tissues and normal mammary gland tissues via a two-step immunohistochemical detection method. RESULTS: The expression of VAMP8 in BC tissues was significantly higher than that in normal breast tissues. Furthermore, increased VAMP8 expression was significantly correlated with tumor size (p=0.007), lymph node metastasis (p=0.024) and recurrence (p=0.001). Patients with high VAMP8 expression had significantly lower cumulative recurrence-free survival and overall survival (p < 0.001 for both) than patients with low VAMP8 expression. In multivariate logistic regression and Cox regression analyses, lymph node metastasis and VAMP8 expression were independent prognostic factors for BC. CONCLUSION: VAMP8 is significantly upregulated in human BC tissues and can thus be a practical and potentially effective surrogate marker for survival in BC patients.
Autophagy ; Biomarkers ; Breast Neoplasms* ; Breast* ; Humans ; Logistic Models ; Lymph Nodes ; Mammary Glands, Human ; Membrane Fusion ; Methods ; N-Ethylmaleimide-Sensitive Proteins ; Neoplasm Metastasis ; Prognosis ; R-SNARE Proteins* ; Recurrence

OBJECTIVE: To explore the pathogenesis of two fetuses from one family affected with Joubert syndrome (JS). METHODS: Whole exome sequencing was employed to screen potential mutations in both fetuses. Suspected mutations were verified by Sanger sequencing. Impact of intronic mutations on DNA transcription was validated by cDNA analysis. RESULTS: Two novel TCTN1 mutations, c.342-8A>G and c.1494+1G>A, were identified in exons 2 and 12, respectively.cDNA analysis confirmed the pathogenic nature of both mutations with interference of normal splicing resulting in production of truncated proteins. CONCLUSION The genetic etiology of the family affected with JS has been identified.Above findings have enriched the mutation spectrum of TCTN1gene and facilitated understanding of the genotype-phenotype correlation of JS.
Abnormalities, Multiple ; diagnosis ; genetics ; Cerebellum ; abnormalities ; Eye Abnormalities ; diagnosis ; genetics ; Humans ; Kidney Diseases, Cystic ; diagnosis ; genetics ; Membrane Proteins ; genetics ; Mutation ; Pedigree ; Retina ; abnormalities ; Whole Exome Sequencing

Objective:To retrospectively analyze the clinical characteristics of patients with coronavirus disease 2019 (COVID-19) accompanied with diarrhea.Methods:From January 11 to February 6 in 2020, the clinical data of 663 patients diagnosed with COVID-19 admitted to Renmin Hospital of Wuhan University were collected and divided into diarrhea group and non-diarrhea group according to whether they had diarrhea or not. The differences in baseline characteristics, basic disease history, clinical manifestations, chest computed tomography (CT), laboratory findings, disease severity and mortality between the two groups were compared. Chi-square test and Fisher exact test were used for statistical analysis.Results:Among 663 COVID-19 patients, 70 (10.6%) patients accompanied with diarrhea. The proportion of fatigue and increased lactate dehydrogenase (LDH) levels of diarrhea group were higher than those of non-diarrhea group (58.6%, 41/70 vs. 28.2%, 167/593; and 64.2%, 43/67 vs. 50.4%, 277/550), and the differences were statistically significant ( χ2=26.891 and 4.566, both P<0.05). There was no statistically significant difference in the proportion of pneumonia in chest CT between diarrhea group and non-diarrhea group (100.0%, 62/62 vs. 99.4%, 529/532) ( P>0.05). There were no statistically significant differences in the proportions of mild and normal type, severe type and critical type between diarrhea group and non-diarrhea group (35.7%, 25/70 vs. 38.6%, 229/593; 50.0%, 35/70 vs. 47.2%, 280/593; and 14.3%, 10/70 vs. 14.2%, 84/593, respectively) (all P>0.05). There were no statistically significant differences in the mortality of mild and normal type, severe type and critical type between diarrhea group and non-diarrhea group (0 vs. 0.5%, 3/593; 0 vs. 0 and 1.4%, 1/70 vs. 3.5%, 21/593) (all P>0.05). Conclusions:Patients with COVID-19 accompanied with diarrhea are more likely to have fatigue and increased LDH level. Diarrhea is not significantly correlated with the disease severity of patients with COVID-19.

Objective To retrospectively analyze the outcomes of wake-up stroke (WUS) patients with occlusion of large vessel occlusion (LVO), who were selected for mechanical thrombectomy according to the mismatch of Alberta Stroke Program Early CT Score (ASPECTS) based on arterial spin labeling (ASL) and diffusion-weighted image (DWI) on admission magnetic resonance (MR) scans. Methods Twelve consecutive WUS patients with acute LVO of the anterior circulation undergoing MR scans with ASL and DWI prior to thrombectomy were retrospectively evaluated. The mismatch of ASPECTS was defined as the difference between ASL-ASPECTS and DWI-ASPECTS, and a higher score indicates a greater mismatch. Results The procedures led to successful reperfusion in all the cases (Thrombolysis in Cerebral Infarction Grade 2b-3). Eleven patients (91.7％) had significantly decreased National Institute of Health Stroke scale (NIHSS) score at discharge. A mRS score of≤2 at 90 days was achieved in 8 of the 12 patients (66.7％). Conclusion The mismatch between ASPECTS assessed based on ASL and DWI can detect a true mismatch in patients with acute LVO of the anterior circulation, and can be used for rapid screening of patients eligible for thrombectomy.

Objective To retrospectively analyze the outcomes of wake-up stroke (WUS) patients with occlusion of large vessel occlusion (LVO), who were selected for mechanical thrombectomy according to the mismatch of Alberta Stroke Program Early CT Score (ASPECTS) based on arterial spin labeling (ASL) and diffusion-weighted image (DWI) on admission magnetic resonance (MR) scans. Methods Twelve consecutive WUS patients with acute LVO of the anterior circulation undergoing MR scans with ASL and DWI prior to thrombectomy were retrospectively evaluated. The mismatch of ASPECTS was defined as the difference between ASL-ASPECTS and DWI-ASPECTS, and a higher score indicates a greater mismatch. Results The procedures led to successful reperfusion in all the cases (Thrombolysis in Cerebral Infarction Grade 2b-3). Eleven patients (91.7％) had significantly decreased National Institute of Health Stroke scale (NIHSS) score at discharge. A mRS score of≤2 at 90 days was achieved in 8 of the 12 patients (66.7％). Conclusion The mismatch between ASPECTS assessed based on ASL and DWI can detect a true mismatch in patients with acute LVO of the anterior circulation, and can be used for rapid screening of patients eligible for thrombectomy.