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Systemic lupus erythematosus (SLE) is an autoimmune disorder of the connective tissue with a wide and heterogeneous spectrum of manifestations, with renal and neurological involvement usually related to worse prognosis. SLE more frequently affects females of reproductive age, and a high prevalence and renal manifestation seem to be associated with non-European ethnicity. The present study aims to investigate candidate loci to SLE predisposition and evaluate the influence of ethnic ancestry in the disease risk and clinical phenotypic heterogeneity of lupus at onset. Samples represented by 111 patients and 345 controls, originated from the city of Belém, located in the Northern Region of Brazil, were investigated for polymorphisms in HLA-G, HLA-C, SLC11A1, MTHFR, CASP8 and 15 KIR genes, in addition to 89 Amerindian samples genotyped for SLC11A1. We also investigated 48 insertion/deletion ancestry markers to characterize individual African, European and Amerindian ancestry proportions in the samples. Predisposition to SLE was associated with GTGT deletion at the SLC11A1 3’UTR, presence of KIR2DS2 +/KIR2DS5 +/KIR3DS1 + profile, increased number of stimulatory KIR genes, and European and Amerindian ancestries. The ancestry analysis ruled out ethnic differences between controls and patients as the source of the observed associations. Moreover, the African ancestry was associated with renal manifestations. Lupus (2011) 20, 265—273. [ABSTRACT FROM AUTHOR]

Aims: This study evaluated the attitudes and perceptions of private dental practitioners (PPs) and students on treating patients with disabilities and sensory impairments., Methods and Results: A multifaceted questionnaire was used to assess the participants' attitudes on providing care to persons with disabilities and sensory impairments [visual (VI) and hearing (HI)]. The survey evaluated different aspects of the participants' attitudes that included integrity, altruism, perceived barriers, and theory of planned behavior (TPB). One hundred twenty participants [students: n = 73, practitioners (PP): n = 47), with a mean-age of 27.7 ± 5.3 years, completed the survey (response rate: 100%). Fourth-year students scored better than the PP in integrity (p = .019). For altruism, the students scored better than PPs (vs. fourth-year: p = .009, vs. fifth-year: p = .031). There were no differences between the participant groups for the overall assessments of the TPB (p = .213), VI (p = .863), and HI (p = .261)., Conclusion: Dental practitioners and students revealed a positive attitude, with few barriers, towards treating individuals with disabilities/sensory impairments and considered the training in the field of special care dentistry as a necessary part of the dental education. Furthermore, a demand for an increase in the hands-on practical experience in treating individuals with disabilities/sensory impairments during the undergraduate study curriculum was identified., (© 2024 The Authors. Special Care in Dentistry published by Special Care Dentistry Association and Wiley Periodicals LLC.)

Objective: This study aimed to evaluate the reliability of two methods used to assess masticatory performance and attempt to correlate them to achieve interchangeability between the methods., Methods: Twelve healthy dentate volunteers (men = 6, women = 6; mean age = 28.3 ± 4.1) with no known dental or medical pathologies were requested to participate in this study. Each participant completed three masticatory performance assessments, including two two-colour mixing-ability tests using chewing-gums (CG: gum#1 and gum#2) and the gummy-jelly (GJ) test. For each method, participants created five samples each (total = 15 measurements per participant, gum#1 = 5, gum#2 = 5, GJ = 5). For the gum#1 and gum#2 methods, the predetermined chewing cycles were fixed at 10, 15, 20, 25 and 30 cycles, and for the GJ method, the time duration was fixed at 10, 15, 20, 25 and 30 s. The parameter measures were submitted to Z-score transformation, and Bland-Altman plots were generated to graphically compare the differences between two techniques against their means. Additionally, mountain plot was used to assess the cumulative distribution of measurement error between the methods., Results: A total of 180 measurements were recorded. There were significant correlations between the number of chewing cycles/chewing time and masticatory performance using the gum#1 (r = -.753; p < .001), gum#2 (r = -.838; p < .001) and GJ (r = .730). When all tests were considered together for each method, significant correlations were found (p < .001). A descriptive range of mean values aiming to produce reference value ranges for predictive purposes was achieved considering the interchangeably among the methods [CG = GJ (VoH-mg = dL): 10 cycle = 10 s: 0.329 = 110; 15 cycles = 15 s: 0.177 = 164; 20 cycles = 20 s: 0.130 = 205; 25 cycles = 25 s: 0.086 = 200; 30 cycles = 30 s: 0.077 = 267]., Conclusion: The strong correlations and high consistency between the two masticatory performance methods found in this study conclude that the two assessment methods are reliable and interchangeable. Further evaluations are warranted to arrive at a conversion formula for translation of the results between the two methods., (© 2024 The Authors. Journal of Oral Rehabilitation published by John Wiley & Sons Ltd.)

Enzymatic incorporation of deoxynucleoside 5'-triphosphate bearing the photocleavable protecting group is a useful method for the preparation of photocaged oligodeoxynucleotides. Here, we describe the synthesis of new photocaged deoxynucleoside triphosphates N 1-(2-nitrobenzyl)-deoxypseudouridine triphosphate (d NB ΨTP) and N 1-(6-nitropiperonyloxymethyl)-deoxypseudouridine triphosphate (d NPOM ΨTP). We successfully synthesized d NB ΨTP and d NPOM ΨTP and applied them to enzymatic synthesis of photocaged oligonucleotides. In addition, we also synthesized phosphoramidites of N 1-(2-nitrobenzyl)- and N 1-(6-nitropiperonyloxymethyl)-deoxypseudouridine to enable chemical synthesis of photocaged oligonucleotides incorporating them. The photocleavable 2-nitrobenzyl and 6-nitropiperonyloxymethyl in oligonucleotides were cleaved by irradiation at 365 nm for 30 and 10 s, respectively. We also studied the enzymatic incorporation of d NB ΨTP and d NPOM ΨTP using the Klenow fragment exo - . As a result, it was clarified that d NPOM ΨTP could be incorporated to oligonucleotide 193 times more efficiently than d NB ΨTP, as judged by V max / K m . We also performed the incorporation of at least eight d NPOM Ψ residues in a 35-mer oligodeoxynucleotide. It has also been revealed that the oligodeoxynucleotides incorporating photocaged deoxypseudouridine were useful for photocontrol of DNA triplex formation.

The Allele Frequency Net Database (AFND, www.allelefrequencies.net) provides the scientific community with a freely available repository for the storage of frequency data (alleles, genes, haplotypes and genotypes) related to human leukocyte antigens (HLA), killer-cell immunoglobulin-like receptors (KIR), major histocompatibility complex Class I chain related genes (MIC) and a number of cytokine gene polymorphisms in worldwide populations. In the last five years, AFND has become more popular in terms of clinical and scientific usage, with a recent increase in genotyping data as a necessary component of Short Population Report article submissions to another scientific journal. In addition, we have developed a user-friendly desktop application for HLA and KIR genotype/population data submissions. We have also focused on classification of existing and new data into 'gold-silver-bronze' criteria, allowing users to filter and query depending on their needs. Moreover, we have also continued to expand other features, for example focussed on HLA associations with adverse drug reactions. At present, AFND contains >1600 populations from >10 million healthy individuals, making AFND a valuable resource for the analysis of some of the most polymorphic regions in the human genome., (© The Author(s) 2019. Published by Oxford University Press on behalf of Nucleic Acids Research.)

Deoxynucleoside 5'-triphosphate was synthesized with 3-oxo-2 H-pyridazin-6-yl (Pz O )-a uracil analogue lacking a 2-keto group-as the nucleobase. Theoretical analyses and hybridization experiments indicated that Pz O recognizes adenine (A) for formation of a Watson-Crick base pair. Primer extension reactions using nucleoside 5'-triphosphate and the Klenow fragment revealed that the synthetic nucleoside 5'-triphosphate was incorporated into the 3' end of the primer through recognition of A in the template strand. Moreover, the 3'-nucleotide residue harboring Pz O as the base was resistant to the 3'-exonuclease activity of Klenow fragment exo+. The primer bearing the Pz O base at the 3' end could function in subsequent chain elongation. These properties of Pz O were attributed to the presence of an endocyclic nitrogen atom at the position ortho to the glycosidic bond, which was presumed to form an H-bond with the amino acid residue of DNA polymerase for effective recognition of the 3' end of the primer for primer extension. These results provide a basis for designing new nucleobases by combining a nitrogen atom at the position ortho to the glycosidic bond and base-pairing sites for Watson-Crick hydrogen bonding.

The allele frequency net database (AFND, http://www.allelefrequencies.net ) is an online web-based repository that contains information on the frequencies of immune-related genes and their corresponding alleles in worldwide human populations. At present, the system contains data from 1505 populations in more than ten million individuals on the frequency of genes from different polymorphic regions including data for the human leukocyte antigens (HLA) system. This resource has been widely used in a variety of contexts such as histocompatibility, immunology, epidemiology, pharmacogenetics, and population genetics, among many others. In this chapter, we present some of the more commonly used searching mechanisms and some of the most recent developments included in AFND.

6-O-(2-Nitrobenzyl)guanosine and 4-O-(2-nitrobenzyl)uridine triphosphates ( NB GTP, NB UTP) were synthesized, and their biochemical and photophysical properties were evaluated. We synthesized NB UTP using the canonical triphosphate synthesis method and NB GTP from 2',3'-O-TBDMS guanosine via a triphosphate synthesis method by utilizing mild acidic desilylation conditions. Deprotection of the nitrobenzyl group in NB GTP and NB UTP proceeded within 60s by UV irradiation at 365nm. Experiments using NB GTP or NB UTP in T7-RNA transcription reactions showed that NB GTP could be useful for the photocontrol of transcription by UV irradiation., (Copyright © 2017 Elsevier Ltd. All rights reserved.)

Mismatch binding protein MutS binding to bulge structure in DNA duplexes was controlled by UV irradiation. 4-O-(2-Nitrobenzyl)thymidine or 4-O-[2-(2-nitrophenyl)propyl]thymidine was incorporated into DNA duplexes a bulged position. The MutS did not bind to the caged DNA duplexes but bound after removing the 2-nitrobenzyl or 2-(2-nitrophenyl)propyl group by photo-irradiation. By using photo-caged DNA duplex, we revealed that binding of MutS to the uncaged DNA downstream of the T7 RNA promoter weakly inhibited transcription by T7 RNA polymerase., (Copyright © 2016. Published by Elsevier Ltd.)