Clinical phenotype characteristics and genetic analysis in children with nephronophthisis and related syndromes caused by different gene mutations / 中国当代儿科杂志

OBJECTIVES@#To improve the understanding of the clinical phenotypes and genetic characteristics of nephronophthisis (NPHP) and related syndromes in children.@*METHODS@#A retrospective analysis was performed on the medical data of eight children with NPHP and related syndromes who were diagnosed and treated in the Department of Pediatrics of the Second Hospital of Hebei Medical University, from January 2018 to November 2022. The clinical characteristics and genetic testing results were analyzed.@*RESULTS@#Among these eight children, there were five boys and three girls, with an age of onset ranging from 15 months to 12 years. All 8 children exhibited different degrees of renal function abnormalities when they attended the hospital. Among the eight children, two had the initial symptom of delayed development, two had the initial symptom of anemia, and two were found to have abnormal renal function during physical examination. The extrarenal manifestations included cardiovascular abnormalities in two children, skeletal dysplasia in two children, liver dysfunction in one child, retinitis pigmentosa in one child, and visceral translocation in one child. All eight children had renal structural changes on ultrasound, and four children had mild to moderate proteinuria based on routine urine test. Of all eight children, five had NPHP1 gene mutations and one each had a gene mutation in the NPHP3, IFT140, and TTC21B genes, and four new mutation sites were discovered.@*CONCLUSIONS@#Children with NPHP and related syndromes often have the initial symptom of delayed development or anemia, and some children also have extrarenal manifestations. NPHP and related syndromes should be considered for children with unexplained renal dysfunction, and high-throughput sequencing may help to make a confirmed diagnosis.

Three-dimensional finite element analysis of a newly designed onplant miniplate anchorage system / 华中科技大学学报（医学）（英德文版）

The purpose of this research was to evaluate the structural stress and deformation of a newly designed onplant miniplate anchorage system compared to a standard anchorage system. A bone block integrated with a novel miniplate and fixation screw system was simulated in a three-dimensional model and subjected to force at different directions. The stress distribution and deformation of the miniplate system and cortical bone were evaluated using the three-dimensional finite element method. The results showed that the stress on the plate system and bone was linearly proportional to the force magnitude and was higher when the force was in a vertical direction (Y-axis). Stress and deformation values of the two screws (screw 1 and 2) were asymmetric when the force was added along Y-axis and was greater in screw 1. The highest deformation value of the screws was 7.5148 μm, much smaller than the limit value. The load was decreased for each single miniscrew, and the ability of the new anchorage system to bear the load was also enhanced to some degree. It was suggested that the newly designed onplant miniplate anchorage system is effective, easily implanted and minimally invasive.

Genome-wide association study with memory measures as a quantitative trait locus for schizophrenia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To assess the association between gene polymorphisms and memory function through a genome-wide association study (GWAS) of schizophrenia and control group. Memory cognition was used as a quantitative trait (QT).</p><p><b>METHODS</b>Ninty-eight subjects with chronic schizophrenia and 60 matched controls were genotyped with HumanHap660 Bead Array. The results were correlated with quantitative traits including memory and memory delay.</p><p><b>RESULTS</b>Five candidate genes, including RASGRF2 (rs401758, P = 8.03×10(-5)), PLCG2 (rs7185362, P= 4.54×10(-5)), LMO1 (rs484161, P=9.80×10(-7), CSMD1 (rs2469383, P= 2.77×10(-6)) and PRKG1 (rs7898516, P=6.94×10(-5)) were associated with memory cognition deficits.</p><p><b>CONCLUSION</b>Using memory cognition as a quantitative trait, this Genome- wide association study has identified 5 susceptibility loci. With their association with nervous system development, neuronal growth, axon guidance and plasticity, brain development, above loci may play a role in the development of memory dysfunction in schizophrenia.</p>

Brain structure abnormality as genetic endophenotype of schizophrenia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the role of genetic factors in the brain structural variation by using magnetic resonance imaging scan in schizophrenic patients and their unaffected siblings, and to provide experimental evidence for identifying endophenotype of schizophrenia.</p><p><b>METHODS</b>The optimized voxel-based morphometry (OVBM) was used to process the brain magnetic resonance images in 15 first episode drug-naive schizophrenic patients, 19 unaffected siblings of the patients and 38 normal control subjects. The data were analyzed by using general linear model.</p><p><b>RESULTS</b>Compared to the normal control subjects, significant decreases of gray matter was observed in first episode drug-naive schizophrenia in bilateral temporal lobe, bilateral occipital lobe, left insula, left frontal lobe superior frontal gyrus and right lentiform nucleus medial globus pallidus. Significant increases of gray matter in bilateral parietal lobe, bilateral limbic lobe cingulate gyrus in patients group while compared to controls were also found. In unaffected siblings, significant decreases of gray matter was observed in the right temporal lobe, bilateral occipital lobe, left insula, and left frontal lobe precentral gyrus, and significant increases of gray matter were found in left parietal lobe and bilateral cerebellum posterior lobe. Increased gray matter in left parietal lobe precuneus was found in first episode drug-naive schizophrenia when compared with their unaffected siblings.</p><p><b>CONCLUSION</b>There were similar brain structure abnormalities between the first episode drug-naive schizophrenia and their unaffected siblings. Genetic factor may play important role in brain structural abnormality in schizophrenia, which suggested that the brain structural change might be a genetic endophenotype of schizophrenia.</p>

Clinical observation on treatment of chronic prostatitis syndrome type III B by Tiaoshen Tonglin Decoction / 中国中西医结合杂志

<p><b>OBJECTIVE</b>To observe the clinical effect of Tiaoshen Tonglin Decoction (TTD)) on chronic prostatitis syndrome (CPS) and its effects on urinary flow rate (UFR), uric acid (UA) content and pH value in expressed prostate secretions (EPS).</p><p><b>METHODS</b>One hundred and eight patients with CPS were randomly assigned to two groups, the treatment group (56 cases) treated with TTI) and the control group (52 cases) with terazosin tablet, both for 60 days. The changes of chronic prostatitis symptom index (NIH-CPSL), established by the National Institutes of Health, U.S.A., UA and pH in EPS, as well as UFR were observed before and after treatment.</p><p><b>RESULTS</b>The cure rate and the total effective rate in the treatment group were higher than those in the control group respectively (P < 0.05); after treatment, the UA level, pH value in EPS and NIH-CPSI decreased significantly in the treatment group (P < 0.01), lower than those in the control group, which had significant change (P < 0.05); the maximum UFR and average UFR of both groups were improved markedly after treatment (P < 0.05) with insignificant difference between the groups.</p><p><b>CONCLUSION</b>TTD can improve the UFR, decrease the NIH-CPSI score, pH value and UA level in the EPS, is an effective recipe for treatment of CPS.</p>

Research on the distributed PACS based on grid technology / 中国医疗器械杂志

In this paper, we introduce the grid technology into the design of the distributed PACS. First, we analyse the architecture and functions of OGSA-DAI, and then, introduce a model of the distributed PACS based on OGSA-DAI, and give a detailed analysis on its basic components and workflow. Finally, we make a conclusion on the distributed PACS based on grid technology.

Study Progress of Effect of Curcuma on Anti-Helicobacter Pylori / 实用儿科临床杂志

Helicobacter pylori(Hp) is an important pathogenic factor in chronic gastritis,peptic ulcer and gastric cancer.With the extensive use of broad-spectrum atibiotics in recent years,the antibiotic resistence of Hp was increasing,together with many side effets and low patient compliance,so the study of new anti-Hp drugs became a research hotspot.Domestic and foreign scholars had extracted active anti-Hp ingredients from the traditional Chinese drug curcuma,they hope to open a new way for the treatment of Hp infection.This paper was to make a brief overview on the study progress of effect of curcuma on anti-Hp.