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Balamuthia mandrillaris infection is a rare infectious disease around the world, with high rates of morbidity and mortality. Its early and correct diagnosis is a big challenge for us, and without it the delay in starting effective treatment can lead to the development of encephalitis. This is a report of a case of Balamuthia mandrillaris infection in a Chinese boy, with red plaques on the nasal dorsum as the first presentation, who finally developed into fatal encephalitis. The authors have reviewed the related literature and share the special skin features in order to favor the early diagnosis of the disease and increase the chances of survival.

Skin is the largest immune organ in the body. Inflammatory dermatosis is the most common manifestation of skin and mucous membrane changes in HIV/AIDS patients, which occur in every stage of HIV infection. Inflammatory dermatosis in HIV/AIDS patients is often atypical, widespread, with long duration, symptomatic and refractory to conventional therapy. Many inflammatory dermatoses can be used as clues to diagnose HIV infection. This chapter includes pruritic papular eruption associated with HIV, seborrheic dermatitis, photodermatosis, psoriasis, eosinophilic folliculitis, hypereosinophilic dermatitis, mucins disease, and Stevens–Johnson syndrome.

Non-inherited syndromes of dermatological interest are classified together in this chapter: Ascher syndrome, Baboon syndrome, blue rubber bleb nevus syndrome, Cronkhite-Canada syndrome, Favre-Racouchot syndrome associated with eyelid papilloma, Gorham syndrome, vulvovaginal-gingival lichen planus, Laugier-Hunziker syndrome, Parry-Romberg syndrome with subclinical cerebral involvement, and Marshall-white syndrome.

Skin tumor is the most intriguing topic for the clinicians. This chapter covers a wide range of issues and provides with informative clues and tips associated with clinical features and pathological presentations and keeps pace with the latest development in molecular biology and immunohistochemistry to assist the readers in the establishment of accurate diagnosis. These following disorders are elaborately selected and arranged from a histopathological perspective.

With the increasing development of genetically modified organisms (GMOs), labeling regulations have been introduced, which require appropriate detection methods. The polymerase chain reaction (PCR) technique has been the mainstay for GMO detection, especially for event-specific qualitative and quantitative PCR detection methods, which have become the internationally agreed state-of-art. This paper describes the character and event-specific quantitative detection method of DP-356043-5 (356043) soybean. In this research, the flanking regions were characterized by inverse PCR (I-PCR). Furthermore, the event-specific PCR primers and TaqMan probe were designed based on the discovered right and left flanking sequences. In the qualitative PCR assay, PCR systems were established with the species-specific and event-specific primers, respectively. And event-specific primers were established on both right and left flanking sequences; the limit of detection (LOD) was both 0.05% (approximates to 42 haploid genome copies). In the quantitative TaqMan real-time PCR assay, we obtained standard curves with good linearity and relatively high efficiency of PCR. All the results indicated that the established event-specific qualitative and quantitative PCR systems for 356043 soybean in this study were reliable and suitable for 356043 soybean detection in mixed samples. Besides, based on the flanking sequence information we obtained, not only the qualitative and quantitative PCR system for detecting 356043 soybean can be established, but also some other novel event-specific detection methods using gene microarray, biosensor, etc., with target sequence on them can also be developed, which have a good value for detecting 356043 soybean.

We performed a genome-wide association study (GWAS) of systemic lupus erythematosus (SLE) in a Chinese Han population by genotyping 1,047 cases and 1,205 controls using Illumina Human610-Quad BeadChips and replicating 78 SNPs in two additional cohorts (3,152 cases and 7,050 controls). We identified nine new susceptibility loci (ETS1, IKZF1, RASGRP3, SLC15A4, TNIP1, 7q11.23, 10q11.22, 11q23.3 and 16p11.2; 1.77 x 10(-25) < or = P(combined) < or = 2.77 x 10(-8)) and confirmed seven previously reported loci (BLK, IRF5, STAT4, TNFAIP3, TNFSF4, 6q21 and 22q11.21; 5.17 x 10(-42) < or = P(combined) < or = 5.18 x 10(-12)). Comparison with previous GWAS findings highlighted the genetic heterogeneity of SLE susceptibility between Chinese Han and European populations. This study not only advances our understanding of the genetic basis of SLE but also highlights the value of performing GWAS in diverse ancestral populations.

Objective.To determine the association of systemic lupus erythematosus (SLE) with single-nucleotide polymorphisms (SNP) in the TNIP1 gene and compare the expression of this gene in cases and controls from a Chinese Han population in this replication study.Methods.Matrix-assisted laser desorption ionization time-of-flight mass spectrometry was used to genotype 19 SNP in TNIP1 in Chinese Han patients with SLE (n = 341) and controls (n = 356). Genotypes were analyzed by codominant, dominant, and recessive models. Analysis of allele frequencies and linkage disequilibrium was also performed. Western blotting and qRT-PCR were used to measure the expression of these genes in peripheral blood mononuclear cells of SLE cases and controls.Results.Seven SNP loci were significantly associated with SLE in our population (p < 0.05 for all comparisons). Two TNIP1 gene haplotypes (ATTGCGC and GTCCTAT) were associated with SLE (p = 0.0246 and p = 0.0024, respectively). Western blotting and qRT-PCR results provide evidence that patients with SLE had significantly reduced expression of TNIP1/ABIN-1 relative to controls.Conclusion.Analysis of SNP in the TNIP1 gene and expression of this gene in peripheral blood lymphocytes indicated these SNP were associated with the occurrence of SLE in Han Chinese patients. Future studies should examine the roles of these SNP in the pathogenesis of SLE.

To investigate the effects of HS1-associated protein X-1 (HAX-1) on the lupus activity of MRL/lpr lupus-like mice.Fifteen MRL/lpr mice were divided into 3 equal groups: Group A, injected with phosphate-buffered saline, Group B, injected intraperitoneally with control virus AdEGFP and Group C, injected intraperitoneally with recombinant AdHAX-1 twice a week for 4 weeks. Peripheral blood samples were collected before the injection, and 2 and 4 weeks after the injection to be detected the white blood cell count, antinuclear antibody (ANA), anti-double strand-DNA antibodies, circulating immune complex (CIC), anti-histone antibodies, and interferon (IFN)-gamma. The level of urine protein was measured, too. Then the mice were killed, a kidney underwent direct immunofluorescence (DIF) to observe the deposition of Immune complexes, and the other kidney underwent periodic acid-Schiff (PAS) staining and pathological examination. MTT method was used to detect the proliferation of the lymphocytes in the spleen. Splenocytes were isolated from the other 15 MRL/lpr mice and then divided into 4 groups: Group, transfected with DMRIE-C without plasmid; Group E, as negative control group; Group F, transfected with blank plasmid pGenesil-1; and Group G, transfected with pGenesil-HAX-1. Forty-eight hours later MTT method was used to detect the proliferation rateof the spleen lymphocytes.The urine protein level of Group C was significantly higher than those of Groups A and B (both P0.01). Four weeks later the levels of ANA, anti-double strand DNA antibodies, and IFN-gamma were all significantly higher than those of Groups A and B (all P0.01). Hypercellularity and increased deposition of IgG in glomeruli were also observed in Group C. The score of glomeruli lesion of Group C (1.50 +/- 0.34) was significantly higher than those of Groups A (0.67 +/- 0.14) and Groups B (0.81 +/- 0.26) (both P0.01). MTT method showed that the growth curve of the spleen lymphocytes of Group C was higher than those of Groups A and B. The spleen lymphocyte proliferation rate and the levels of IFN-gamma of Group G was significantly lower than that of Group F (both P0.05).One of the important factors in apoptosis regulation of SLE, HAX-1 may be involved in the pathogenesis of SLE, and the silence of HAX-1 may be beneficial for the improvement of SLE.

To construct the short hairpin RNA (shRNA) eukaryotic expression vector specific for HS1-associated protein X-1 (Hax-1) and investigate the inhibitory effect of it on Hax-1.According to the design rules of shRNA, the specific sequence of 19 nucleotides were selected from Hax-1 cDNA sequence and designed as the cDNA template of siRNA. ShRNA vector pGenesil-Hax-1 was constructed by recombining the synthesized specific sequence with siRNA expression vector pGensil-1. After the recombinant plasmids were transfected into HeLa cells, RT-PCR technique and Western blot were applied to analyze mRNA and protein expression of Hax-1.The results of RT-PCR showed that the down-regulation of Hax-1 mRNA expression was found in the pGenesil-Hax-1 transfected group, but not in the pGenesil-1 transfected group or the negative control group (P0.01). The expression of Hax-1 protein decreased by 70% in the pGenesil-Hax-1 transfected group compared with the negative control group.Hax-1 gene expression can be inhibited markedly by specific shRNA in HeLa cells, which establishes the experimental foundation for further study on the biological functions of Hax-1 in HeLa cells.