Opening SCID newborn screening for novel exon genetic variants through whole-exome sequencing in China.

BACKGROUND: Severe combined immunodeficiency (SCID) is the most fatal form of inherited primary immunodeficiency disease. Known molecular defect mutations occur in most children with SCID. METHODS: Herein, we report Adenosine Deaminase-SCID (ADA-SCID) using whole-exome sequencing (WES), explore exome mutational landscape and significance for 17 SCID samples, and verify the mutated exon genes using the Gene Expression Omnibus (GEO) datasets. A total of 250 patients, who were hospitalized at the Neonatal Intensive Care Unit (NICU) of The Seventh Medical Center of the PLA General Hospital for 3 years (from 2017 to 2020), were screened for SCID. We collected mutated genes from the WES data of 17 SCID children. GSE609 and GSE99176 cohorts were used to identify the expressions of mutated exon genes and molecular features in SCID. Gene set variation analyses (GSVA) and correlation analyses were performed. RESULTS: The detection rate with approximately 6.8 % (17/250) of SCID is high in the NICU. A total of 16 genes were identified among 17 SCID samples, of which the Top 2 genes (MUC6 and RP11-683L23.1) might be crucial in the progression of SCID with 94 % mutation frequency. Furthermore, CNN2 and SCGB1C1 had significant co-mutations and may cooperate to affect SCID development. Importantly, the phylogenetic tree classification results of 17 SCID samples are more correlated to MUC6 with the most significant mutations. Expression profiles of seven mutated genes and five mutated genes were documented in GSE609 and GSE99176 cohorts based on microarray, respectively. Several immune-related pathways were significantly enriched, and Foxd4, differing from the other four mutated genes, was inversely correlated with the GSVA-enriched pathway. CONCLUSION: Due to its high detection rate (6.8%) and fatality rate (100%), the inclusion of SCID in newborn screening (NBS) is urgent for children in China. The WES successfully identified several common exonic variants (e.g., MUC6) and depicted the feature of mutations and evolution, which will help develop new diagnostic methods for SCID.

Integrating metagenomics and metabolomics to study the response of microbiota in black soil degradation.

As the largest commercial food production base and ecological security barrier, land degradation in black soil areas seriously threatens the global food supply and natural ecosystems. Therefore, determining the response of soil microbiota is crucial to restoring degraded soils. This study combined metagenomics and metabolomics to investigate the effect of different degrees of soil degradation on microbial community composition and metabolic function in black soils. It was found that alpha diversity in degraded soils (Shannon: 22.3) was higher than in nondegraded soil (ND) (Shannon: 21.8), and the degree of degradation significantly altered the structure and composition of soil microbial communities. The results of LEfSe analysis obtained 9 (ND), 7 (lightly degraded, LD), 10 (moderately degraded, MD), and 1 (severely degraded, SD) biomarkers in four samples. Bradyrhizobium, Sphingomonas, and Ramlibacter were significantly affected by soil degradation and can be considered biomarkers of ND, MD, and SD, respectively. Soil nutrient and enzyme activities decreased significantly with increasing black soil degradation, soil organic matter (SOM) content decreased from 11.12 % to 1.97 %, and Sucrase decreased from 23.53 to 6.59 mg/g/d. In addition, C was the critical driver affecting microbial community structure, contributing 61.2 % to differences in microbial community distribution, and microbial altering relative abundance which participle in the carbon cycle to respond to soil degradation. Metabolomic analyses indicated that soil degradation significantly modified the soil metabolite spectrum, and the metabolic functions of most microorganisms responding to soil degradation were adversely affected. The combined multi-omics analysis further indicated that biomarkers dominate in accumulating metabolites. These findings confirmed that due to their role in the composition and functioning of these degraded soils, these biomarkers could be employed in strategies for managing and restoring degraded black soils.

Application and Clinical Analysis of Remote Fetal Heart Rate Monitoring Platform in Continuous Fetal Heart Rate Monitoring Images.

Fetal heart sound is an important part of fetal monitoring and has attracted extensive research and attention from scholars at home and abroad in recent years. The fetal heart rate, extracted from the fetal heart sound signal, is one of the important indicators that reflect the health of the fetus in the womb. In this study, a maternal-fetal Holter monitor based on f ECG technology was used to collect maternal heart rate, fetal heart rate, and uterine contractions signals, isolate the fetal heart rate, and design an algorithm to extract the fetal heart rate baseline, acceleration, variation, wake-up cycle, and nonlinear parameters. Using statistical methods to analyze the average value and range of various characteristic parameters of fetal heart rate under continuous long-term monitoring, the results show that the baseline has a downward trend from 10 o'clock in the night to 4 o'clock in the morning and is the lowest around 2 o'clock in the morning. The area and acceleration time were significantly higher than those in the suspicious group. However, there was no significant difference in the number of acceleration values between the two groups; the proportion of small mutations in the normal group was lower than that of the suspicious group and the proportion of medium mutations was higher than that of the suspicious group. There is no statistically significant difference in maternal age, gestational age at childbirth, pregnancy comorbidities, and complication rates in the five-level interpretation system of ACOG (2009), RCOG (2007), SOGC (2007), and the United States (2007). The difference of pregnancy and parity in various images was statistically significant, P < 0.05. The second type of fetal heart rate monitoring images appeared in the highest among the diagnostic standards, and the difference in the second type of fetal heart rate monitoring images between the various diagnostic standards was statistically significant, P ≤ 0.001.

[Introduction of IHE Laboratory Technical Framework].

This paper introduces the purpose, integration profile of workflow, integration profile of content of IHE Laboratory Technical Framework and the dependency on IT Infrastructure Technical Framework. And the domestic situation of LIS and HIS integration is analyzed briefly too.

[A study on the LIS and HIS integration].

The development of hospital business demands the integration of information systems. After studying the relative technologies for system connection,system integration and different modes of connecting system, we put forward a protocol to integrate the existing laboratory information system( LIS) and hospital information system(HIS). It introduces the multi-tier distributed technical methods for improving the client/server applications; it ascertains the units and transactions participating in workflow integration by referencing the IHE( Integrating the Healthcare Enterprises) Laboratory Technology Framework; it implements information exchange by Health Level 7(HL7) standards; and it can conserve previous investment and avoid some problems of security, maintenance and realtime process without the risk of massively updating system.

[Design of a controlling switch set based on RS-232].

As a common computer keyboard and a mouse can't meet the requirements of some special occasions, this paper introduces the design of a controlling switch set based on RS-232 for capturing the image at the medical image workstation. Its working principles, circuit, assembly together with its associated software controller are given in detail. The control switch set features easy manufacturing, low cost and a good reliability.