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1.
Retina ; 44(7): 1251-1259, 2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-38447058

RESUMO

PURPOSE: To investigate the associations between screening practices and late diagnosis in Asian patients with hydroxychloroquine retinopathy. METHODS: In total, 92 Korean patients with hydroxychloroquine retinopathy were included and separated into late diagnosis and earlier diagnosis groups according to the retinopathy stage at the time of diagnosis. Details of screening practices regarding timing and modalities for baseline and annual monitoring examinations were compared between the two groups. Adherence to the current American Academy of Ophthalmology guidelines was compared between the two groups. RESULTS: Timing of baseline and initial monitoring examinations was appropriate as per the Academy of Ophthalmology guidelines in only 5.3% of patients with late diagnosis. There were significant differences in the proportions of patients receiving initial monitoring at 5 years of use and those receiving annual monitoring between the late and earlier diagnosis groups ( P = 0.003 and <0.001, respectively). The duration from the start date of hydroxychloroquine therapy to the first monitoring examination was significantly prolonged in the late diagnosis group ( P < 0.001). Multivariate logistic regression revealed significant association of the time duration with the first monitoring examination ( P = 0.042) and age ( P = 0.028) with late diagnosis. CONCLUSION: Results of this study suggest that poor adherence to the Academy of Ophthalmology guideline, particularly delayed initial monitoring, may be associated with late diagnosis of hydroxychloroquine retinopathy.


Assuntos
Antirreumáticos , Diagnóstico Tardio , Hidroxicloroquina , Doenças Retinianas , Humanos , Hidroxicloroquina/efeitos adversos , Masculino , Feminino , Doenças Retinianas/induzido quimicamente , Doenças Retinianas/diagnóstico , Doenças Retinianas/etnologia , Pessoa de Meia-Idade , Antirreumáticos/efeitos adversos , Adulto , Estudos Retrospectivos , Idoso , República da Coreia , Povo Asiático/etnologia
2.
J Nanobiotechnology ; 21(1): 100, 2023 Mar 21.
Artigo em Inglês | MEDLINE | ID: mdl-36944950

RESUMO

BACKGROUND: Cathepsin B, a cysteine protease, is considered a potential biomarker for early diagnosis of cancer and inflammatory bowel diseases. Therefore, more feasible and effective diagnostic method may be beneficial for monitoring of cancer or related diseases. RESULTS: A phage-display library was biopanned against biotinylated cathepsin B to identify a high-affinity peptide with the sequence WDMWPSMDWKAE. The identified peptide-displaying phage clones and phage-free synthetic peptides were characterized using enzyme-linked immunosorbent assays (ELISAs) and electrochemical analyses (impedance spectroscopy, cyclic voltammetry, and square wave voltammetry). Feasibilities of phage-on-a-sensor, peptide-on-a-sensor, and peptide-on-a-AuNPs/MXene sensor were evaluated. The limit of detection and binding affinity values of the peptide-on-a-AuNPs/MXene sensor interface were two to four times lower than those of the two other sensors, indicating that the peptide-on-a-AuNPs/MXene sensor is more specific for cathepsin B (good recovery (86-102%) and %RSD (< 11%) with clinical samples, and can distinguish different stages of Crohn's disease. Furthermore, the concentration of cathepsin B measured by our sensor showed a good correlation with those estimated by the commercially available ELISA kit. CONCLUSION: In summary, screening and rational design of high-affinity peptides specific to cathepsin B for developing peptide-based electrochemical biosensors is reported for the first time. This study could promote the development of alternative antibody-free detection methods for clinical assays to test inflammatory bowel disease and other diseases.


Assuntos
Técnicas Biossensoriais , Nanopartículas Metálicas , Catepsina B , Ouro , Peptídeos/química , Técnicas Biossensoriais/métodos , Biblioteca de Peptídeos , Ensaio de Imunoadsorção Enzimática/métodos
3.
Int J Mol Sci ; 23(3)2022 Jan 25.
Artigo em Inglês | MEDLINE | ID: mdl-35163260

RESUMO

Autoimmune diseases are disorders that destruct or disrupt the body's own tissues by its own immune system. Several studies have revealed that polymorphisms of multiple genes are involved in autoimmune diseases. Meanwhile, gene therapy has become a promising approach in autoimmune diseases, and clustered regularly interspaced palindromic repeats and CRISPR-associated protein 9 (CRISPR-Cas9) has become one of the most prominent methods. It has been shown that CRISPR-Cas9 can be applied to knock out proprotein convertase subtilisin/kexin type 9 (PCSK9) or block PCSK9, resulting in lowering low-density lipoprotein cholesterol. In other studies, it can be used to treat rare diseases such as ornithine transcarbamylase (OTC) deficiency and hereditary tyrosinemia. However, few studies on the treatment of autoimmune disease using CRISPR-Cas9 have been reported so far. In this review, we highlight the current and potential use of CRISPR-Cas9 in the management of autoimmune diseases. We summarize the potential target genes for immunomodulation using CRISPR-Cas9 in autoimmune diseases including rheumatoid arthritis (RA), inflammatory bowel diseases (IBD), systemic lupus erythematosus (SLE), multiple sclerosis (MS), type 1 diabetes mellitus (DM), psoriasis, and type 1 coeliac disease. This article will give a new perspective on understanding the use of CRISPR-Cas9 in autoimmune diseases not only through animal models but also in human models. Emerging approaches to investigate the potential target genes for CRISPR-Cas9 treatment may be promising for the tailored immunomodulation of some autoimmune diseases in the near future.


Assuntos
Doenças Autoimunes/genética , Sistemas CRISPR-Cas/genética , Animais , Edição de Genes/métodos , Humanos , RNA Guia de Cinetoplastídeos/genética
4.
Medicina (Kaunas) ; 58(8)2022 Aug 02.
Artigo em Inglês | MEDLINE | ID: mdl-36013501

RESUMO

It is known that the etiology and clinical outcomes of autoimmune diseases are associated with a combination of genetic and environmental factors. In the case of the genetic factor, the SNPs of the PTPN22 gene have shown strong associations with several diseases. The recent exploding numbers of genetic studies have made it possible to find these associations rapidly, and a variety of autoimmune diseases were found to be associated with PTPN22 polymorphisms. Proteins encoded by PTPN22 play a key role in the adaptative and immune systems by regulating both T and B cells. Gene variants, particularly SNPs, have been shown to significantly disrupt several immune functions. In this review, we summarize the mechanism of how PTPN22 and its genetic variants are involved in the pathophysiology of autoimmune diseases. In addition, we sum up the findings of studies reporting the genetic association of PTPN22 with different types of diseases, including type 1 diabetes mellitus, systemic lupus erythematosus, juvenile idiopathic arthritis, and several other diseases. By understanding these findings comprehensively, we can explain the complex etiology of autoimmunity and help to determine the criteria of disease diagnosis and prognosis, as well as medication developments.


Assuntos
Doenças Autoimunes , Lúpus Eritematoso Sistêmico , Proteína Tirosina Fosfatase não Receptora Tipo 22 , Doenças Autoimunes/genética , Predisposição Genética para Doença , Genótipo , Humanos , Sistema Imunitário/metabolismo , Lúpus Eritematoso Sistêmico/genética , Polimorfismo de Nucleotídeo Único , Proteína Tirosina Fosfatase não Receptora Tipo 22/genética
5.
Mol Breed ; 41(1): 1, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37309526

RESUMO

Elucidation of the genomic organizations of transgene insertion sites is essential for the genetic studies of transgenic plants. Herein, we establish an analysis pipeline that identifies the transgene insertion sites as well as the presence of vector backbones, through de novo genome assembly with high-throughput sequencing data in two transgenic soybean lines, AtYUCCA6-#5 and 35S-UGT72E3/2-#7. Sequencing data of approximately 28× and 29× genome coverages for each line generated by high-throughput sequencing were de novo assembled. The databases generated from the de novo assembled sequences were used to search contigs that contained putative insertion sites and their flanking sequences (integration sites) of transgene fragments using transgenic vector sequences as queries. The predicted integration site sequences, which are located at three annotated genes that might regulate plant development or confer disease resistance, were then confirmed by local alignment against the soybean reference genome and PCR amplification. As results, we revealed the precise transgene-flanking sequences and sequence rearrangements at insertion sites in both the transgenic lines, as well as the aberrant insertion of a transgene fragment. Consequently, relative to experimental or enrichment technologies, our approach is straightforward and time-effective, providing an alternative method for the identification of insertion sites in transgenic plants.

6.
Sensors (Basel) ; 21(20)2021 Oct 14.
Artigo em Inglês | MEDLINE | ID: mdl-34696057

RESUMO

In this study, we aimed to develop a new automated method for kidney volume measurement in children using ultrasonography (US) with image pre-processing and hybrid learning and to formulate an equation to calculate the expected kidney volume. The volumes of 282 kidneys (141 subjects, <19 years old) with normal function and structure were measured using US. The volumes of 58 kidneys in 29 subjects who underwent US and computed tomography (CT) were determined by image segmentation and compared to those calculated by the conventional ellipsoidal method and CT using intraclass correlation coefficients (ICCs). An expected kidney volume equation was developed using multivariate regression analysis. Manual image segmentation was automated using hybrid learning to calculate the kidney volume. The ICCs for volume determined by image segmentation and ellipsoidal method were significantly different, while that for volume calculated by hybrid learning was significantly higher than that for ellipsoidal method. Volume determined by image segmentation was significantly correlated with weight, body surface area, and height. Expected kidney volume was calculated as (2.22 × weight (kg) + 0.252 × height (cm) + 5.138). This method will be valuable in establishing an age-matched normal kidney growth chart through the accumulation and analysis of large-scale data.


Assuntos
Inteligência Artificial , Tomografia Computadorizada por Raios X , Adulto , Criança , Humanos , Processamento de Imagem Assistida por Computador , Rim/diagnóstico por imagem , Ultrassonografia , Adulto Jovem
7.
Pediatr Nephrol ; 33(4): 631-637, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-29306986

RESUMO

BACKGROUND: D-dimer, as well as other biomarkers related to coagulation, is significantly increased during severe bacterial infection and sepsis. The aim of this study was to evaluate the usefulness of serum D-dimer as a biological marker in diagnosing acute pyelonephritis (APN) and in predicting vesicoureteric reflux (VUR) in infants with urinary tract infection (UTI). METHODS: We retrospectively analyzed the data of 177 young infants (<2 years) with febrile UTI between 2005 and 2014, grouped as APN and lower UTI groups. Conventional inflammatory markers (white blood cell count (WBC), erythrocyte sedimentation rates (ESR), C-reactive protein (CRP)), and D-dimer were measured. RESULTS: The WBC counts (P = 0.002), ESR (P < 0.0001), CRP (P < 0.0001), D-dimer levels (P = 0.006) and the presence of VUR (P < 0.0001) were significantly higher in the APN group than in the lower UTI group. Multiple logistic regression analyses showed that D-dimer (odds ratio [OR]:1.003, 95% CI: 1.001-1.006, P = 0.002) was an independent predictive factor for VUR in young children with UTI. The area under the curve (AUC) value from the receiver operating characteristic (ROC) curve of D-dimer (0.621, P = 0.046, 95% CI: 0.499-0.743) for prediction of VUR was higher than other inflammatory markers, but was inferior to CRP in predicting APN. CONCLUSIONS: Our results demonstrate that D-dimer can be used as an inflammatory marker in infants with febrile UTI in addition to other inflammatory markers.


Assuntos
Biomarcadores/sangue , Produtos de Degradação da Fibrina e do Fibrinogênio/análise , Pielonefrite/sangue , Infecções Urinárias/sangue , Refluxo Vesicoureteral/sangue , Sedimentação Sanguínea , Proteína C-Reativa , Feminino , Humanos , Lactente , Contagem de Leucócitos , Masculino , Pielonefrite/etiologia , Curva ROC , Estudos Retrospectivos , Infecções Urinárias/etiologia , Refluxo Vesicoureteral/complicações , Refluxo Vesicoureteral/diagnóstico
8.
Theor Appl Genet ; 130(8): 1685-1692, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28516383

RESUMO

KEY MESSAGE: A high-resolution genetic map that was constructed for the Lf1 -residing region will provide valuable information for map-based cloning and genetic improvement efforts in soybean. Changes in leaf architecture as photosynthesis factories remain a major challenge for the improvement of crop productivity. Unlike most soybeans, which have compound leaves comprising three leaflets, the soybean Lf1 mutant has a high frequency of compound leaves with five leaflets in a partially dominant manner. Here, we generated a fine genetic map to determine the genetic basis of this multifoliolate leaf trait. A five-leaflet variant Dusam was found in a recently collected landrace cultivar. Phenotypic data were collected from the F2 population of a cross between the Dusam and three-leaflet cultivar V94-5152. The mapping results generated using public markers indicated that the five-leaflet determining gene in Dusam is an allele of the previously studied Lf1 gene on chromosome 8. A high-resolution map delimited the genomic region controlling the leaflet number trait to a sequence length of 49 kb. AP2 domain-containing Glyma.08g281900 annotated in this 49 kb region appeared to be a strong candidate for the Lf1-encoding gene, as members of the AP2-type transcription factor family regulate lateral organ development. Dusam additionally exhibits visually distinct phenotypes for shattering and seed-coat cracking traits. However, the two traits were clearly unlinked to the Lf1 gene in our mapping population. Interestingly, the mapping results suggest that the Lf1 gene most likely exerts a pleiotropic effect on the number of seeds per pod. Thus, our results provide a strong foundation towards the cloning of this compound leaf development gene and marker-assisted selection of the seeds per pod trait.


Assuntos
Glycine max/genética , Folhas de Planta/crescimento & desenvolvimento , Alelos , Mapeamento Cromossômico , Genes de Plantas , Ligação Genética , Fenótipo , Sementes/crescimento & desenvolvimento , Glycine max/crescimento & desenvolvimento
9.
Plant J ; 81(4): 625-36, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25641104

RESUMO

Cultivated soybean (Glycine max) suffers from a narrow germplasm relative to other crop species, probably because of under-use of wild soybean (Glycine soja) as a breeding resource. Use of a single nucleotide polymorphism (SNP) genotyping array is a promising method for dissecting cultivated and wild germplasms to identify important adaptive genes through high-density genetic mapping and genome-wide association studies. Here we describe a large soybean SNP array for use in diversity analyses, linkage mapping and genome-wide association analyses. More than four million high-quality SNPs identified from high-depth genome re-sequencing of 16 soybean accessions and low-depth genome re-sequencing of 31 soybean accessions were used to select 180,961 SNPs for creation of the Axiom(®) SoyaSNP array. Validation analysis for a set of 222 diverse soybean lines showed that 170,223 markers were of good quality for genotyping. Phylogenetic and allele frequency analyses of the validation set data indicated that accessions showing an intermediate morphology between cultivated and wild soybeans collected in Korea were natural hybrids. More than 90 unanchored scaffolds in the current soybean reference sequence were assigned to chromosomes using this array. Finally, dense average spacing and preferential distribution of the SNPs in gene-rich chromosomal regions suggest that this array may be suitable for genome-wide association studies of soybean germplasm. Taken together, these results suggest that use of this array may be a powerful method for soybean genetic analyses relating to many aspects of soybean breeding.


Assuntos
Técnicas de Genotipagem , Glycine max/genética , Polimorfismo de Nucleotídeo Único , Estudo de Associação Genômica Ampla , Hibridização Genética , Análise de Sequência com Séries de Oligonucleotídeos
10.
Theor Appl Genet ; 129(3): 453-68, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26649868

RESUMO

KEY MESSAGE: Discovery of new germplasm sources and identification of haplotypes for the durable Soybean mosaic virus resistance gene, Rsv 4, provide novel resources for map-based cloning and genetic improvement efforts in soybean. The Soybean mosaic virus (SMV) resistance locus Rsv4 is of interest because it provides a durable type of resistance in soybean [Glycine max (L.) Merr.]. To better understand its molecular basis, we used a population of 309 BC3F2 individuals to fine-map Rsv4 to a ~120 kb interval and leveraged this genetic information in a second study to identify accessions 'Haman' and 'Ilpumgeomjeong' as new sources of Rsv4. These two accessions along with three other Rsv4 and 14 rsv4 accessions were used to examine the patterns of nucleotide diversity at the Rsv4 region based on high-depth resequencing data. Through a targeted association analysis of these 19 accessions within the ~120 kb interval, a cluster of four intergenic single-nucleotide polymorphisms (SNPs) was found to perfectly associate with SMV resistance. Interestingly, this ~120 kb interval did not contain any genes similar to previously characterized dominant disease resistance genes. Therefore, a haplotype analysis was used to further resolve the association signal to a ~94 kb region, which also resulted in the identification of at least two Rsv4 haplotypes. A haplotype phylogenetic analysis of this region suggests that the Rsv4 locus in G. max is recently introgressed from G. soja. This integrated study provides a strong foundation for efforts focused on the cloning of this durable virus resistance gene and marker-assisted selection of Rsv4-mediated SMV resistance in soybean breeding programs.


Assuntos
Resistência à Doença/genética , Genes de Plantas , Glycine max/genética , Vírus do Mosaico/patogenicidade , Doenças das Plantas/genética , Alelos , Mapeamento Cromossômico , DNA de Plantas/genética , Haplótipos , Desequilíbrio de Ligação , Filogenia , Doenças das Plantas/virologia , Polimorfismo de Nucleotídeo Único , Análise de Sequência de DNA , Glycine max/virologia
11.
Pediatr Nephrol ; 31(11): 2087-93, 2016 11.
Artigo em Inglês | MEDLINE | ID: mdl-27234910

RESUMO

BACKGROUND: Little information is currently available on the development of tubulointerstitial lesions in children with Henoch-Schönlein nephritis (HSN). To identify the impact of the development of tubulointerstitial changes in HSN, we retrospectively analyzed renal biopsies obtained from children with HSN. METHODS: Twenty-eight children with HSN from whom serial renal biopsies had been obtained before and after immunosuppressive therapy were enrolled in the study. The patients were divided into two groups according to the observed change in tubulointerstitial lesion development: group I (n = 15), with stable or improved tubulointerstitial lesions, and group II (n = 13), with worsened tubulointerstitial lesions. Group II patients had longer duration of proteinuria than group I patients (3.7 ± 3.7 years vs. 1.7 ± 1.7 years, p = 0.052). RESULTS: The change in serum albumin level was negatively correlated with the change in tubulointerstitial scores before and after treatment (γ = -0.444, p = 0.018). Group II patients showed a significant decrease in immunoglobulin G (IgG) and IgA deposits after treatment (p = 0.039 and 0.003, respectively), while group II patients did not (p = 0.458 and 0.506, respectively). CONCLUSIONS: Although the International Study of Kidney Disease in Children classification of HSN does not include tubulointerstitial lesions, they can progress during treatment and could have significant clinical implications in association with the duration of proteinuria.


Assuntos
Vasculite por IgA/tratamento farmacológico , Vasculite por IgA/patologia , Imunossupressores/uso terapêutico , Rim/patologia , Nefrite Intersticial/tratamento farmacológico , Nefrite Intersticial/patologia , Biópsia , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Vasculite por IgA/sangue , Vasculite por IgA/imunologia , Imunoglobulina G/imunologia , Imunoglobulina G/metabolismo , Masculino , Nefrite Intersticial/sangue , Nefrite Intersticial/imunologia , Proteinúria/urina , Estudos Retrospectivos , Albumina Sérica/análise
12.
IEEE Trans Electron Devices ; 63(10): 3851-3856, 2016 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28579633

RESUMO

We report a new technique for the rapid measurement of full capacitance-voltage (C-V) characteristic curves. The displacement current from a 100 MHz applied sine-wave, which swings from accumulation to strong inversion, is digitized directly using an oscilloscope from the metal-oxide-semiconductor (MOS) capacitor under test. A C-V curve can be constructed directly from this data but is severely distorted due to non-ideal behavior of real measurement systems. The key advance of this work is to extract the system response function using the same measurement set-up and a known MOS capacitor. The system response correction to the measured C-V curve of the unknown MOS capacitor can then be done by simple deconvolution. No de-skewing and/or leakage current correction is necessary, making it a very simple and quick measurement. Excellent agreement between the new fast C-V method and C-V measured conventionally by an LCR meter is achieved. The total time required for measurement and analysis is approximately 2 seconds, which is limited by our equipment.

13.
Pediatr Cardiol ; 37(8): 1404-1408, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-27394424

RESUMO

Recently, the prevalence of infant Kawasaki disease (KD) has increased. However, the myocardial functional analysis of infant KD can be difficult and rarely reported. The purpose of this study was to investigate layer specific myocardial strain analysis for better assessment of the acute period in infant KD. The study retrospectively reviewed the echocardiographic data of 25 infant patients with KD at the acute phase. With advanced imaging, pulsed tissue Doppler velocity data, myocardial strain with three layers specific analysis was performed. Then the data were compared with 25 age-matched healthy control infants. The measures of longitudinal strain and radial strain were decreased in infant KD compared to healthy controls. The circumferential strain was significantly decreased in infant KD at all three myocardial layers, especially in the endocardial layer (KD: -20.5 ± 6.4 % vs. CONTROL: -25.6 ± 7.6 %, endocardium, p = 0.00001; -14.6 ± 4.4 % vs. -18.1 ± 4.0 %; middle myocardium, p = 0.01; -9.7 ± 3.3 % vs. -11.4 ± 3.8 %; epicardium, p = 0.04). The acute phase of infant KD demonstrated decreased myocardial strain measurement. Circumferential strain was the lowest in the endocardial layer. Further continuous long-term follow up for myocardial assessment should be recommended even after recovery with appropriate treatment.


Assuntos
Síndrome de Linfonodos Mucocutâneos , Ecocardiografia , Endocárdio , Humanos , Lactente , Miocárdio , Pericárdio
14.
Anal Chem ; 87(9): 4910-6, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25867553

RESUMO

Electron spin resonance (ESR) spectroscopy's affinity for detecting paramagnetic free radicals, or spins, has been increasingly employed to examine a large variety of biochemical interactions. Such paramagnetic species are broadly found in nature and can be intrinsic (defects in solid-state materials systems, electron/hole pairs, stable radicals in proteins) or, more often, purposefully introduced into the material of interest (doping/attachment of paramagnetic spin labels to biomolecules of interest). Using ESR to trace the reactionary path of paramagnetic spins or spin-active proxy molecules provides detailed information about the reaction's transient species and the label's local environment. For many biochemical systems, like those involving membrane proteins, synthesizing the necessary quantity of spin-labeled biomolecules (typically 50 pmol to 100 pmol) is quite challenging and often limits the possible biochemical reactions available for investigation. Quite simply, ESR is too insensitive. Here, we demonstrate an innovative approach that greatly enhances ESR's sensitivity (>20000× improvement) by developing a near-field, nonresonant, X-band ESR spectrometric method. Sensitivity improvement is confirmed via measurement of 140 amol of the most common nitroxide spin label in a ≈593 fL liquid cell at ambient temperature and pressure. This experimental approach eliminates many of the typical ESR sample restrictions imposed by conventional resonator-based ESR detection and renders the technique feasible for spatially resolved measurements on a wider variety of biochemical samples. Thus, our approach broadens the pool of possible biochemical and structural biology studies, as well as greatly enhances the analytical power of existing ESR applications.


Assuntos
Proteínas de Membrana/análise , Espectroscopia de Ressonância de Spin Eletrônica , Radicais Livres/análise , Micro-Ondas
15.
Arthritis Rheum ; 65(4): 1055-63, 2013 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-23335107

RESUMO

OBJECTIVE: Several copy number variations (CNVs) have been found to be associated with systemic lupus erythematosus (SLE) through the target gene approach. However, genome-wide features of CNVs and their role in the risk of SLE remain unknown. The aim of this study was to identify SLE-associated CNVs in Korean women. METHODS: Genome-wide assessments of CNVs were performed in 382 SLE patients and 191 control subjects, using an Illumina HumanHap610 BeadChip genotyping platform. SLE-associated CNV regions that were identified by genome-wide association study (GWAS) were replicated in quantitative polymerase chain reaction (PCR) and deletion-typing PCR analyses in an independent sample set comprising 564 SLE patients and 511 control subjects. RESULTS: Of 144 common CNV regions, 3 deletion-type CNV regions in 1q25.1, 8q23.3, and 10q21.3 were found to be significantly associated with SLE by GWAS analysis. In the independent replication, the CNV regions in 1q25.1 (RABGAP1L) and 10q21.3 were successfully replicated (odds ratio [OR] 1.30, P=0.038 and OR 1.90, P=3.6×10(-5), respectively), and the associations were confirmed again by deletion-typing PCR. The CNV region in the C4 gene, which showed a potential association in the discovery stage, was included in the replication analysis and was found to be significantly associated with the risk of SLE (OR 1.88, P=0.01). Through deletion-typing PCR, the exact sizes and breakpoint sequences of the deletions were defined. Individuals with the deletions in all 3 loci (RABGAP1L, 10q21.3, and C4) had a much higher risk of SLE than did those without any deletions in the 3 loci (OR 5.52, P=3.9×10(-4)). CONCLUSION: These CNV regions can be useful to identify the pathogenic mechanisms of SLE, and might be used to more accurately predict the risk of SLE by taking into consideration their synergistic effects on disease susceptibility.


Assuntos
Sequência de Bases/genética , Cromossomos Humanos Par 10/genética , Cromossomos Humanos Par 8/genética , Complemento C4/genética , Proteínas Ativadoras de GTPase/genética , Lúpus Eritematoso Sistêmico/genética , Proteínas do Tecido Nervoso/genética , Deleção de Sequência/genética , Adulto , Povo Asiático/genética , Estudos de Casos e Controles , Variações do Número de Cópias de DNA , Feminino , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Genótipo , Humanos , Razão de Chances , Reação em Cadeia da Polimerase , Polimorfismo de Nucleotídeo Único , República da Coreia , Fatores de Risco , Adulto Jovem
16.
J Chest Surg ; 57(2): 217-219, 2024 Mar 05.
Artigo em Inglês | MEDLINE | ID: mdl-38057953

RESUMO

Matching for the rhesus (Rh) blood group is currently not taken into account in the organ allocation system. However, in Rh-mismatched transplantation, the primary concern is the potential for RhD-negative recipients to develop sensitization and produce anti-D anti-bodies if they receive a transfusion of RhD-positive blood. It is estimated that over 80% of RhD-negative recipients may experience Rh allosensitization when exposed to RhD-positive blood, although this occurrence is less common in recipients of solid organs. In theory, RhD-negative recipients who receive organs from RhD-positive donors are at risk of alloimmunization and the production of anti-D antibodies, which could complicate future blood product transfusions. However, our understanding of the impact of donor-recipient Rh mismatch on transplant outcomes, particularly in heart transplantation, is limited. We report a case of successful Rh-mismatched heart transplantation, which was effectively managed through the use of preoperative RhD immunoglobulin and plasmapheresis.

17.
Ophthalmol Retina ; 8(3): 246-253, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37832716

RESUMO

OBJECTIVE: To investigate the nationwide use of pentosan polysulfate (PPS) and screening practices for PPS maculopathy (PPM), with a focus on the timing and modalities used. DESIGN: Population-based cohort study. PARTICIPANTS: For evaluation of nationwide usage, 133 762 individuals who received PPS prescriptions between 2012 and 2021 were included. To investigate practice patterns, 55 487 individuals (referred to as overall users) who initiated PPS therapy between 2018 and 2020 were identified using the Health Insurance Review and Assessment database. After excluding patients with ophthalmic diseases before PPS administration, 34 857 PPS users without prior ophthalmic diseases were identified. METHODS: Ophthalmic examinations performed after initiating PPS therapy were categorized as baseline and subsequent monitoring examinations. The timing and modalities employed for these examinations were analyzed. The annual trends in PPS utilization and maculopathy screening were evaluated by assessing the number of PPS users and determining the proportion of patients receiving retinal/macular examinations among these users. MAIN OUTCOME MEASURES: Performance of baseline and subsequent monitoring examinations and timing and modalities used for screening. RESULTS: The number of PPS users dramatically increased annually over the study period from 5494 in 2012 to 40 451 in 2021. However, the majority of PPS users did not undergo baseline or subsequent monitoring examinations for PPM. Only 27.2% and 12.4% of PPS users without prior ophthalmic disease underwent baseline and monitoring examinations, respectively. Funduscopy/fundus photography was the most commonly utilized, whereas OCT and fundus autofluorescence (FAF) were performed in only 45.2% and 5.3% of the PPS users without prior ophthalmic diseases for monitoring, respectively. The performance of the screening examinations differed significantly across the 3 different daily dose and duration groups (all P < 0.05). CONCLUSIONS: This study highlights the lack of performance of baseline and monitoring examinations for maculopathy in most patients taking PPS in South Korea. The limited use of OCT and FAF suggests potential insensitivity in detecting PPM. These findings emphasize the need for improvements in screening practices, including increased awareness and referrals to ophthalmologists, utilization of more sensitive modalities, and regular monitoring to enable early detection of PPM. FINANCIAL DISCLOSURE(S): The authors have no proprietary or commercial interest in any materials discussed in this article.


Assuntos
Degeneração Macular , Doenças Retinianas , Humanos , Poliéster Sulfúrico de Pentosana/efeitos adversos , Estudos de Coortes , Doenças Retinianas/induzido quimicamente , Doenças Retinianas/diagnóstico , Doenças Retinianas/epidemiologia , Degeneração Macular/diagnóstico , Degeneração Macular/tratamento farmacológico , Degeneração Macular/epidemiologia , República da Coreia/epidemiologia
18.
Sci Rep ; 14(1): 15250, 2024 07 02.
Artigo em Inglês | MEDLINE | ID: mdl-38956090

RESUMO

This study is aimed to investigate the effect of hemodialysis (HD) on the lamina cribrosa (LC) of the optic nerve head (ONH) using swept-source optical coherence tomography (SS-OCT) and other ophthalmological parameters in patients with end-stage kidney disease (ESKD). This prospective observational study included 29 patients who underwent HD for ESKD. ONH parameters including neural canal diameter (NCD), peripapillary vertical height (PVH), and anterior LC depth (LCD), were assessed using SS-OCT. Changes in the ONH parameters before and after HD were statistically analysed. Correlations between changes in the LCD and other ocular and systemic measurements were identified using Pearson's correlation analyses. The mean anterior LCD significantly decreased from 441.6 ± 139.8 µm before HD to 413.5 ± 141.7 µm after HD (P = 0.001). Mean NCD and PVH did not show significant changes after HD (P = 0.841 and P = 0.574, respectively). A significant correlation was found between changes in the anterior LCD and the mean ocular perfusion pressure (r = 0.397, P = 0.036). We observed a significant decrease in anterior LCD after HD. Our study suggests that HD can influence the ONH, especially in the LC.


Assuntos
Disco Óptico , Diálise Renal , Tomografia de Coerência Óptica , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Diálise Renal/efeitos adversos , Tomografia de Coerência Óptica/métodos , Disco Óptico/diagnóstico por imagem , Disco Óptico/patologia , Estudos Prospectivos , Idoso , Falência Renal Crônica/terapia , Adulto
19.
Sci Rep ; 14(1): 367, 2024 01 03.
Artigo em Inglês | MEDLINE | ID: mdl-38172500

RESUMO

Diagnosing and monitoring glaucoma in high myopic (HM) eyes are becoming very important; however, it is challenging to diagnose this condition. This study aimed to evaluate the diagnostic ability of wide-field optical coherence tomography angiography (WF-OCTA) maps for the detection of glaucomatous damage in eyes with HM and to compare the diagnostic ability of WF-OCTA maps with that of conventional imaging approaches, including swept-source optical coherence tomography (SS-OCT) wide-field maps. In this retrospective observational study, a total 62 HM-healthy eyes and 140 HM eyes with open-angle glaucoma were included. Patients underwent a comprehensive ocular examination, including SS-OCT wide-field and 12 × 12 WF-OCTA scans. The WF-OCTA map represents the peripapillary and macular superficial vascular density maps. Glaucoma specialists determined the presence of glaucomatous damage in HM eyes by reading the WF-OCTA map and comparing its sensitivity and specificity with those of conventional SS-OCT images. The sensitivity and specificity of 12 × 12 WF-OCTA scans for HM-glaucoma diagnosis were 87.28% and 86.94%, respectively, while, the sensitivity and specificity of SS-OCT wide-field maps for HM-glaucoma diagnosis were 87.49% and 80.51%, respectively. The specificity of the WF-OCTA map was significantly higher than that of the SS-OCT wide-field map (p < 0.05). The sensitivity of the WF-OCTA map was comparable with that of the SS-OCT wide-field map (p = 0.078). The WF-OCTA map showed good diagnostic ability for discriminating HM-glaucomatous eyes from HM-healthy eyes. As a complementary method to an alternative imaging modality, WF-OCTA mapping can be a useful tool for the detection of HM glaucoma.


Assuntos
Glaucoma de Ângulo Aberto , Glaucoma , Miopia , Disco Óptico , Humanos , Glaucoma de Ângulo Aberto/diagnóstico por imagem , Tomografia de Coerência Óptica/métodos , Glaucoma/diagnóstico por imagem , Miopia/diagnóstico por imagem , Angiografia , Angiofluoresceinografia/métodos , Vasos Retinianos
20.
Sci Rep ; 14(1): 4599, 2024 Feb 26.
Artigo em Inglês | MEDLINE | ID: mdl-38409202

RESUMO

Iontronic devices, recognized for user-friendly soft electronics, establish an electrical double layer (EDL) at the interface between ion gels and electrodes, significantly influencing device performance. Despite extensive research on ion gels and diverse electrode materials, achieving a stable interfacial formation remains a persistent challenge. In this work, we report a solution to address this challenge by employing CO2 irradiation as a bottom-up methodology to directly fabricate highly conductive, conformable laser-induced graphene (LIG) electrodes on a polyimide (PI)-based ion gel. The PI ion gel exhibits exceptional EDL formation at the electrode interface, primarily attributable to efficient ion migration. Particularly, ionic laser-induced graphene (i-LIG) electrodes, derived from the PI ion gel as a precursor, yield high-quality graphene with enhanced crystallinity and an expanded porous structure in the upward direction. This outcome is achieved through a pronounced thermal transfer effect and intercalation phenomenon between graphene layers, facilitated by the presence of ionic liquids (ILs) within the PI ion gel. Ultimately, in comparison to alternative soft electrode-based vertical capacitors, the utilization of i-LIGs and PI ion gels in the vertical capacitor demonstrates reduced interfacial resistance and increased EDL capacitance, emphasizing the extensive potential of iontronic devices. These results not only highlight these features but also introduce a new perspective for advancing next-generation iontronic devices.

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