[The optimal examination duration for the detection of epileptiform discharge in outpatient video-electroencephalography].

Objective: To determine the optimal examination duration by evaluating the detection rate of epileptiform discharges (EDs) with different examination duration of video-electroencephalography (EEG) in outpatients. Methods: Patients with EDs who underwent 4-hour EEG examination from Xuanwu Hospital, Capital Medical University from October 2020 to November 2021 were retrospectively enrolled, and the detection rates of EDs were calculated with examination duration of 0-0.5 h, 0-1 h, 0-2 h, 0-3 h, and 0-4 h (group A, B, C, D and E), respectively. For each patient, EDs in each hour (group H1, group H2, group H3, group H4) were counted, and the standardized amount of EDs was calculated. For each patient, EDs in wakefulness, drowsiness, non-rapid eye movement-Ⅰ (NREM-Ⅰ), NREM-Ⅱ and NREM-Ⅲ were counted, and the standardized amount of EDs in each state was calculated. Meanwhile, the sleep duration per hour of each patient was also counted (group H1', group H2', group H3', group H4'). The Wilcoxon paired test was used for intergroup comparison to determine the optimal examination duration. Results: A total of 80 patients were enrolled, and aged [M(Q1, Q3)]31 (21, 39) years (range: 5-68 years). There were 38 males and 42 females. The detection rate of EDs was 42.5% (34/80) in group A, 81.3% (65/80) in group B, and 100.0% (80/80) in group C, group D and group E, respectively. The standardized amount of EDs of H1, H2, H3 and H4 was 24.8% (7.8%, 44.2%), 41.5% (25.9%, 63.3%), 15.1% (1.3%, 27.8%) and 1.3% (0, 14.5%), respectively. The standardized amount of EDs of H2 was significantly higher than that of H1, H3 and H4 (all P<0.05). The standardized amount of EDs in wakefulness, drowsiness, NREM-Ⅰ, NREM-Ⅱ and NREM-Ⅲ were 9.6% (0, 28.2%), 3.6% (0, 16.9%), 3.3% (0, 11.8%), 47.3% (21.9%, 72.5%) and 0 (0, 11.5%), respectively. The standardized amount of EDs in NREM-Ⅱ was significantly higher than that in wakefulness, drowsiness, NREM-Ⅰ and NREM-Ⅲ (all P<0.05). The sleep duration in the group of the H1', H2', H3' and H4' was 13.6 (2.5, 23.6), 35.8 (16.5, 54.2), 14.5(0, 34.7) and 0 (0, 14.6) minutes, respectively. The sleep duration in the group of the H2' group was significantly longer than that in the group of H1', H3' and H4' (all P<0.05). Conclusion: The study recommends 2 hours video-EEG in outpatients, which not only ensures the detection rate of EDs, but also facilitates patient cooperation and optimizes the allocation of medical resources.

[Phenotype and genotype analyses of two pedigrees with inherited fibrinogen deficiency].

Objective: To analyze the phenotype and genotype of two pedigrees with inherited fibrinogen (Fg) deficiency caused by two heterozygous mutations. We also preliminarily probed the molecular pathogenesis. Methods: The prothrombin time (PT), activated partial thromboplastin time (APTT), thrombin time (TT) and plasma fibrinogen activity (Fg∶C) of all family members (nine people across three generations and three people across two generations) were measured by the clotting method. Fibrinogen antigen (Fg:Ag) was measured by immunoturbidimetry. Direct DNA sequencing was performed to analyze all exons, flanking sequences, and mutated sites of FGA, FGB, and FGG for all members. Thrombin-catalyzed fibrinogen polymerization was performed. ClustalX 2.1 software was used to analyze the conservatism of the mutated sites. MutationTaster, PolyPhen-2, PROVEAN, SIFT, and LRT online bioinformatics software were applied to predict pathogenicity. Swiss PDB Viewer 4.0.1 was used to analyze the changes in protein spatial structure and molecular forces before and after mutation. Results: The Fg∶C of two probands decreased (1.28 g/L and 0.98 g/L, respectively). The Fg∶Ag of proband 1 was in the normal range of 2.20 g/L, while it was decreased to 1.01 g/L in proband 2. Through genetic analysis, we identified a heterozygous missense mutation (c.293C>A; p.BßAla98Asp) in exon 2 of proband 1 and a heterozygous nonsense mutation (c.1418C>G; p.BßSer473*) in exon 8 of proband 2. The conservatism analysis revealed that Ala98 and Ser473 presented different conservative states among homologous species. Online bioinformatics software predicted that p.BßAla98Asp and p.BßSer473* were pathogenic. Protein models demonstrated that the p.BßAla98Asp mutation influenced hydrogen bonds between amino acids, and the p.BßSer473* mutation resulted in protein truncation. Conclusion: The dysfibrinogenemia of proband 1 and the hypofibrinogenemia of proband 2 appeared to be related to the p.BßAla98Asp heterozygous missense mutation and the p.BßSer473* heterozygous nonsense mutation, respectively. This is the first ever report of these mutations.

SCARA5 is a Novel Biomarker in Colorectal Cancer by Comprehensive Analysis.

BACKGROUND: SCARA5 has been demonstrated to be a tumor suppressor gene, with its expression downregulated in many cancer types. However, only few studies have investigated its role in colorectal cancer (CRC). The current study evaluated SCARA5 expression levels in CRC and its potential value as a diagnostic biomarker for CRC. METHODS: Data were downloaded from the TCGA, GEO, and Oncomine databases to evaluate SCARA5 mRNA expression levels in CRC. The prognosis value of SCARA5 was assessed using the online tool Cutoff Finder via the Kaplan-Meier plotter (n = 484). Immunohistochemistry was performed to analyze and compare the SCARA5 protein expression levels in CRC and normal tissues from 67 CRC clinical specimens. Relevant CRC CNV data were downloaded from TCGA and cBioPortal for Cancer Genomics databases to assess the associated genetic alterations. GSEA was used to explore the underlying molecular mechanisms of SCARA5. The correlation between SCARA5 mRNA levels and cell cycle-associated genes was explored using GEPIA database. RESULTS: SCARA5 mRNA levels were found to be downregulated in CRC tissues compared with normal tissues. Survival analysis showed that low SCARA5 expression was associated with poor prognosis. These results were validated in clinical specimens, wherein the SCARA5 protein levels were significantly downregulated in CRC tissues compared with paracarcinoma tissues. Deep deletion was the most common genetic alteration and was consistent with the downregulated SCARA5 expression in CRC tissues. GSEA indicated that the gene sets of CELL CYCLE, G2M CHECKPOINT, and E2F TARGETS were negatively related to SCARA5 mRNA expression. GEPIA indicated that the mRNA expression of some cell cycle-associated genes was negatively correlated with that of SCARA5 in CRC. CONCLUSIONS: Thus, SCARA5 may act as a human cancer suppressor gene in CRC, and its expression level may be a reliable adjuvant parameter to diagnose CRC and predict tumor metastasis and prognosis.

A comprehensive information resource on traditional, complementary, and alternative medicine: toward an international collaboration.

OBJECTIVES: A prototype for a comprehensive information resource for traditional complementary and alternative medicine (TCAM) has been developed to fill the considerable needs of a broad audience for worldwide access to TCAM information. The proposed resource is to be a comprehensive, vocabulary-controlled, integrated, standardized, multimedia information resource for TCAM. It will facilitate international cooperation, promote synergistic development of individual resources, promote dissemination of TCAM knowledge, and map the interrelationships among the TCAM traditions. METHODS: We organized two workshops for representatives of international databases that contain significant information on various aspects of alternative medicine. For the first workshop, we prepared and demonstrated a prototype named Complementary and Alternative Medicine Digital Library (CAMed) to illustrate the anticipated structure, content, and functionality of the comprehensive resource. We then constructed a second prototype to demonstrate the possibilities of searching across the collaborating databases and presented it to the representatives at the second workshop. OUTCOMES: Representatives of nine international databases attended the two workshops, in Bangalore, India (1998), and in Seoul, Korea (1999). We presented the prototypes at the workshops. Prototype I uses a Web interface, and supports browsing and searching from a variety of access points. Prototype II demonstrates a functional system that provides simultaneous access to selected represented databases by searching thesauri of these databases through our system. The group formalized itself as the International Collaboration for Information on Complementary and Traditional Medicine (IC2TM) with a goal of fully realizing the potential of the project.