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1.
J Cosmet Laser Ther ; : 1-8, 2024 Jun 29.
Artigo em Inglês | MEDLINE | ID: mdl-38943685

RESUMO

Microneedle fractional radiofrequency (MFRF) has been used to improve photoaging and scars. This study aimed to evaluate the efficacy and safety of MFRF with basic fibroblast growth factor (bFGF) for facial atrophic acne scars and skin rejuvenation by blinded visual evaluation, self-report, and reflective confocal microscopy (RCM). Fifteen subjects were randomized to the MFRF with bFGF group and fifteen to the MFRF group. All subjects underwent three-session therapy and a follow-up period. Significant group differences were in ECCA, global improvement score, satisfaction, and downtime before and after treatment. Combination therapy could be more effective than monotherapy for acne scars and facial rejuvenation. In addition, RCM can be used to observe the changes in skin collagen before and after treatment in evaluating cosmetic efficacy.

2.
Heliyon ; 10(5): e27618, 2024 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-38495177

RESUMO

Acyl-CoA thioesterase 4 (ACOT4) has been reported to be related to acetyl-CoA carboxylase activity regulation; However, its exact functions in liver lipid and glucose metabolism are still unclear. Here, we discovered explored the regulatory roles of ACOT4 in hepatic lipid and glucose metabolism in vitro. We found that the expression level of ACOT4 was significantly increased in the hepatic of db/db and ob/ob mice as well as obese mice fed a high fat diet. Adenovirus-mediated overexpression of ACOT4 promoted gluconeogenesis and high-glucose/high-insulin-induced lipid accumulation and impaired insulin sensitivity in primary mouse hepatocytes, whereas ACOT4 knockdown notably suppressed gluconeogenesis and decreased the triglycerides accumulation in hepatocytes. Furthermore, ACOT4 knockdown increased insulin-induced phosphorylation of AKT and GSK-3ß in primary mouse hepatocytes. Mechanistically, we found that upregulation of ACOT4 expression inhibited AMP-activated protein kinase (AMPK) activity, and its knockdown had the opposite effect. However, activator A769662 and inhibitor compound C of AMPK suppressed the impact of the change in ACOT4 expression on AMPK activity. Our data indicated that ACOT4 is related to hepatic glucose and lipid metabolism, primarily via the regulation of AMPK activity. In conclusion, ACOT4 is a potential target for the therapy of non-alcoholic fatty liver (NAFLD) and type 2 diabetes.

3.
Front Immunol ; 14: 1304466, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38077400

RESUMO

Background: We explore sphingolipid-related genes (SRGs) in skin melanoma (SKCM) to develop a prognostic indicator for patient outcomes. Dysregulated lipid metabolism is linked to aggressive behavior in various cancers, including SKCM. However, the exact role and mechanism of sphingolipid metabolism in melanoma remain partially understood. Methods: We integrated scRNA-seq data from melanoma patients sourced from the GEO database. Through the utilization of the Seurat R package, we successfully identified distinct gene clusters associated with patient survival in the scRNA-seq data. Key prognostic genes were identified through single-factor Cox analysis and used to develop a prognostic model using LASSO and stepwise regression algorithms. Additionally, we evaluated the predictive potential of these genes within the immune microenvironment and their relevance to immunotherapy. Finally, we validated the functional significance of the high-risk gene IRX3 through in vitro experiments. Results: Analysis of scRNA-seq data identified distinct expression patterns of 4 specific genes (SRGs) in diverse cell subpopulations. Re-clustering cells based on increased SRG expression revealed 7 subgroups with significant prognostic implications. Using marker genes, lasso, and Cox regression, we selected 11 genes to construct a risk signature. This signature demonstrated a strong correlation with immune cell infiltration and stromal scores, highlighting its relevance in the tumor microenvironment. Functional studies involving IRX3 knockdown in A375 and WM-115 cells showed significant reductions in cell viability, proliferation, and invasiveness. Conclusion: SRG-based risk signature holds promise for precise melanoma prognosis. An in-depth exploration of SRG characteristics offers insights into immunotherapy response. Therapeutic targeting of the IRX3 gene may benefit melanoma patients.


Assuntos
Melanoma , Neoplasias Cutâneas , Humanos , Melanoma/genética , Melanoma/terapia , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/terapia , Prognóstico , Imunoterapia , Metabolismo dos Lipídeos , Microambiente Tumoral/genética
4.
Allergy Asthma Clin Immunol ; 19(1): 59, 2023 Jul 05.
Artigo em Inglês | MEDLINE | ID: mdl-37408052

RESUMO

BACKGROUND: Secukinumab has been approved by the U.S. FDA and the European Medicines Agency for the treatment of moderate-to-severe plaque psoriasis and psoriatic arthritis with the documented adverse effects. Here we reported in one case that a new symptom, Prurigo Nodularis (PN), developed during the programmed dosing of secukinumab. CASE INTRODUCTION: A 22-years-old male with a 6-month history of severe plaque psoriasis vulgaris was presented to the dermatology clinic two weeks after the fifth serial weekly doses of secukinumab, for the reason of the outbreaks of multiple erythematous papules and pruritus nodules on the trunk and extremities. Physical examination showed that psoriatic rash were under effective control with the previous targeted therapy of secukinumab for plaque psoriasis vulgaris, but new dermatologic condition was spotted with multiple edematous red firm papules on the trunk and extremities, in the form of soy or hemispherical nodules, red in color, firm to touch, with some ulcerated crusts visible at tops, but negative Auspitz sign. Pathological examination confirmed these papules as PN. CONCLUSION: This case report is shared to inform clinicians about an unannounced adverse effect of the secukinumab in the treatment of psoriasis, and it is recommended that patients be carefully informed of the possible risk of PN before starting treatment.

5.
Front Immunol ; 14: 1094042, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37304304

RESUMO

Background: Global patterns of immune cell communications in the immune microenvironment of skin cutaneous melanoma (SKCM) haven't been well understood. Here we recognized signaling roles of immune cell populations and main contributive signals. We explored how multiple immune cells and signal paths coordinate with each other and established a prognosis signature based on the key specific biomarkers with cellular communication. Methods: The single-cell RNA sequencing (scRNA-seq) dataset was downloaded from the Gene Expression Omnibus (GEO) database, in which various immune cells were extracted and re-annotated according to cell markers defined in the original study to identify their specific signs. We computed immune-cell communication networks by calculating the linking number or summarizing the communication probability to visualize the cross-talk tendency in different immune cells. Combining abundant analyses of communication networks and identifications of communication modes, all networks were quantitatively characterized and compared. Based on the bulk RNA sequencing data, we trained specific markers of hub communication cells through integration programs of machine learning to develop new immune-related prognostic combinations. Results: An eight-gene monocyte-related signature (MRS) has been built, confirmed as an independent risk factor for disease-specific survival (DSS). MRS has great predictive values in progression free survival (PFS) and possesses better accuracy than traditional clinical variables and molecular features. The low-risk group has better immune functions, infiltrated with more lymphocytes and M1 macrophages, with higher expressions of HLA, immune checkpoints, chemokines and costimulatory molecules. The pathway analysis based on seven databases confirms the biological uniqueness of the two risk groups. Additionally, the regulon activity profiles of 18 transcription factors highlight possible differential regulatory patterns between the two risk groups, suggesting epigenetic event-driven transcriptional networks may be an important distinction. MRS has been identified as a powerful tool to benefit SKCM patients. Moreover, the IFITM3 gene has been identified as the key gene, validated to express highly at the protein level via the immunohistochemical assay in SKCM. Conclusion: MRS is accurate and specific in evaluating SKCM patients' clinical outcomes. IFITM3 is a potential biomarker. Moreover, they are promising to improve the prognosis of SKCM patients.


Assuntos
Melanoma , Neoplasias Cutâneas , Humanos , Melanoma/diagnóstico , Melanoma/genética , Monócitos , Macrófagos , Microambiente Tumoral , Proteínas de Membrana , Proteínas de Ligação a RNA , Melanoma Maligno Cutâneo
6.
Aging (Albany NY) ; 15(10): 4444-4464, 2023 05 24.
Artigo em Inglês | MEDLINE | ID: mdl-37227816

RESUMO

BACKGROUND: T cell plays a crucial role in the occurrence and progression of Skin cutaneous melanoma (SKCM). This research aims to identify the actions of T cell proliferation-related genes (TRGs) on the prognosis and immunotherapy response of tumor patients. METHOD: The clinical manifestation and gene expression data of SKCM patients were obtained from The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO) databases. T cell proliferation-related molecular subtypes were identified utilizing consensus clustering. Subsequently, Cox and Lasso regression analysis was conducted to identify six prognostic genes, and a prognostic signature was constructed. A series of experiments, such as qRT-PCR, Western blotting and CCK8 assay, were then conducted to verify the reliability of the six genes. RESULTS: In this study, a grading system was established to forecast survival time and responses to immunotherapy, providing an overview of the tumoral immune landscape. Meanwhile, we identified six prognostic signature genes. Notably, we also found that C1RL protein may inhibit the growth of melanoma cell lines. CONCLUSION: The scoring system depending on six prognostic genes showed great efficiency in predicting survival time. The system could help to forecast prognosis of SKCM patients, characterize SKCM immunological condition, assess patient immunotherapy response.


Assuntos
Melanoma , Neoplasias Cutâneas , Humanos , Melanoma/genética , Melanoma/terapia , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/terapia , Prognóstico , Reprodutibilidade dos Testes , Proliferação de Células/genética , Melanoma Maligno Cutâneo
7.
Photodermatol Photoimmunol Photomed ; 39(5): 441-448, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37036012

RESUMO

BACKGROUND: Hemoporfin-mediated photodynamic therapy (HMME-PDT) is currently considered one of the most promising therapies for port-wine stain (PWS). However, the efficacy of this is very variable and needs further studies. METHODS: A total of 101 patients with PWS in the face, neck, or extremities who received at least 2 HMME-PDT sessions were included in the study, and correlations of efficacy with age, gender, locations, treatment sessions, and PDL treatment history were analyzed. RESULTS: The efficacy of HMME-PDT in patients with different ages, locations, and different numbers of prior PDL treatment showed constantly significant differences after 1/2/last session (p < .05). The number of treatments was associated with efficacy, and patients who received more than two sessions had a better response than those who underwent two sessions only (p < .001). Ordinal logistic regression analysis confirmed the above-mentioned associations. Nevertheless, patients of different sex, subtype, and lesion size showed no significant differences. CONCLUSIONS: Our studies demonstrated that HMME-PDT is effective in the treatment of PWS. The more prior PDL treatments, older age, lips involvement, PWS on limbs were adverse factors for Hemoporfin-PDT, while multiple HMME-PDT sessions can improve effective and response rate. Besides, ambient temperature and lesions temperature should be concerned, local cooling provides some relief from pain but may influence effect.


Assuntos
Fotoquimioterapia , Mancha Vinho do Porto , Humanos , Mancha Vinho do Porto/tratamento farmacológico , Mancha Vinho do Porto/patologia , Fármacos Fotossensibilizantes/uso terapêutico , Estudos Retrospectivos , Resultado do Tratamento
8.
Arch Dermatol Res ; 315(6): 1511-1526, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-36624362

RESUMO

Skin cutaneous melanoma (SKCM) is the most malignant skin tumor for it is enormously easy to develop invasion and metastasis. Autophagy is a process by which cellular material is degraded by lysosomes or vacuoles and recycled. Autophagy-related long non-coding RNAs (lncRNAs) have been thought to correlate with SKCM. This study aims to explore the prognostic significance of autophagy-related lncRNAs and establish a prognostic model of autophagy-related lncRNA pairs in SKCM. Firstly, the RNA-seq data and related clinical information were downloaded from the TCGA database. 446 qualified samples were enrolled. 222 autophagy-related genes were obtained from the HADb database. Pearson correlation analysis was conducted to identify autophagy-related lncRNAs (ARLs). After that, we obtained prognosis-related ARLs and autophagy-related lncRNA pairs (ARLPs). Using Lasso-Cox regression analysis, an autophagy-related lncRNA-pair prognostic signature was established. The accuracy of the signature were confirmed through a series of validations in terms of mutation profiles, immunity infiltration, and cellular pathways. And we used the random forest method to find USP30-AS1 as a key mediating factor in SKCM.


Assuntos
Melanoma , RNA Longo não Codificante , Neoplasias Cutâneas , Humanos , Melanoma/diagnóstico , Melanoma/genética , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/genética , RNA Longo não Codificante/genética , Autofagia/genética , Algoritmos , Prognóstico , Melanoma Maligno Cutâneo
9.
Skin Res Technol ; 28(6): 880-881, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-36281971
10.
Front Oncol ; 12: 844666, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35345444

RESUMO

Skin cutaneous melanoma (SKCM) attracts attention worldwide for its extremely high malignancy. A novel term cytolytic activity (CYT) has been introduced as a potential immunotherapy biomarker associated with counter-regulatory immune responses and enhanced prognosis in tumors. In this study, we extracted all datasets of SKCM patients, namely, RNA sequencing data and clinical information from The Cancer Genome Atlas (TCGA) database and the Gene Expression Omnibus (GEO) database, conducted differential expression analysis to yield 864 differentially expressed genes (DEGs) characteristic of CYT and used non-negative matrix factorization (NMF) method to classify molecular subtypes of SKCM patients. Among all genes, 14 hub genes closely related to prognosis for SKCM were finally screen out. Based on these genes, we constructed a 14-gene prognostic risk model and its robustness and strong predictive performance were further validated. Subsequently, the underlying mechanisms in tumor pathogenesis and prognosis have been defined from a number of perspectives, namely, tumor mutation burden (TMB), copy number variation (CNV), tumor microenvironment (TME), infiltrating immune cells, gene set enrichment analysis (GSEA) and immune checkpoint inhibitors (ICIs). Furthermore, combined with GTEx database and HPA database, the expression of genes in the model was verified at the transcriptional level and protein level, and the relative importance of genes in the model was described by random forest algorithm. In addition, the model was used to predict the difference in sensitivity of SKCM patients to chemotherapy and immunotherapy. Finally, a nomogram was constructed to better aid clinical diagnosis.

11.
Rheumatology (Oxford) ; 61(6): 2652-2662, 2022 05 30.
Artigo em Inglês | MEDLINE | ID: mdl-34718439

RESUMO

OBJECTIVE: To investigate the associations of mitochondrial DNA (mtDNA) genetic variants with SLE susceptibility, glucocorticoid (GC) efficacy and prognosis. METHODS: Our study was done in two stages. First, we performed whole mitochondrial genome sequencing in 100 patients and 100 controls to initially screen potential mtDNA variants associated with disease and GC efficacy. Then, we validated the results in an independent set of samples. In total, 605 SLE patients and 604 normal controls were included in our two-stage study. A two-stage efficacy study was conducted in 512 patients treated with GCs for 12 weeks. We also explored the association between mtDNA variants and SLE prognosis. RESULTS: In the combined sample, four mtDNA variants (A4833G, T5108C, G14569A, CA514-515-) were associated with SLE susceptibility (all PBH < 0.05). We confirmed that T16362C was related to efficacy of GCs (PBH = 0.014). Significant associations were detected between T16362C and T16519C and the efficacy of GCs in females with SLE (PBH < 0.05). In the prognosis study, variants A4833G (PBH = 0.003) and G14569A (PBH = 9.744 × 10-4) substantially increased SLE relapse risk. Female patients harbouring variants T5108C and T16362C were more prone to relapse (PBH < 0.05). Haplotype analysis showed that haplogroup G was linked with SLE susceptibility (PBH = 0.001) and prognosis (PBH = 0.013). Moreover, mtDNA variant-environment interactions were observed. CONCLUSION: We identified novel mtDNA genetic variants that were associated with SLE susceptibility, GC efficacy, and prognosis. Interactions between mtDNA variants and environmental factors were related to SLE risk and GC efficacy. Our findings provide important information for future understanding of the occurrence and development of SLE.


Assuntos
Glucocorticoides , Lúpus Eritematoso Sistêmico , DNA Mitocondrial/genética , Feminino , Predisposição Genética para Doença , Glucocorticoides/uso terapêutico , Humanos , Lúpus Eritematoso Sistêmico/tratamento farmacológico , Lúpus Eritematoso Sistêmico/genética , Polimorfismo de Nucleotídeo Único , Prognóstico , Recidiva
12.
Photodiagnosis Photodyn Ther ; 37: 102637, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-34801774

RESUMO

Phakomatosis pigmentovascularis (PPV) is a rare congenital syndrome characterized by capillary malformation (mainly port-wine stains, PWS) and pigmentary nevi with or without extracutaneous signs. Efforts are ongoing to develop laser therapy to treat vascular and pigmentation abnormalities in PPV. The status of pulsed-dye lasers in the treatment of PWS has been challenged by vascular-targeted photodynamic therapy (PDT). Hematoporphyrin monomethyl ether-mediated PDT (HMME-PDT) has become a research hotspot for PWS. The long-term efficiency and safety of HMME-PDT for vascular lesions coexisting with pigmented lesions in PPV have not been reported. We report a pediatric case of PPV type Ⅱa presenting with PWS and nevus of Ota efficiently treated through a 3-session HMME-PDT. After treatment, the PWS lesions regressed significantly without noticeable adverse reactions or recurrence. Besides, we share the dermoscopy data of PPV lesions and discuss the clinical manifestations and therapeutic strategies for PPV based on existing related literature.


Assuntos
Síndromes Neurocutâneas , Fotoquimioterapia , Mancha Vinho do Porto , Criança , Hematoporfirinas/uso terapêutico , Humanos , Fotoquimioterapia/métodos , Mancha Vinho do Porto/tratamento farmacológico
13.
Wounds ; 34(11): E108-E111, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-36608840

RESUMO

INTRODUCTION: PG is an uncommon, noninfectious neutrophilic dermatosis. Very few cases of bullous PG as the first manifestation of IgG myeloma have been reported. HE4, a novel marker for human cancers, may be a promising marker of bone destruction and disease progression in patients with hematologic malignancies and PG lesions. CASE REPORT: The authors report a case of a 49-year-old female who presented with painful patches located on the lower extremities for the past 5 months, and then had lesions that rapidly progressed to necrotic ulcers after unregulated acupuncture therapy. During the treatment procedure, underlying IgG κ-type myeloma was diagnosed. After the diagnosis was confirmed, the patient underwent chemotherapy, and the lesions started to heal and gradually showed scarring. The current report also discusses the potential value of HE4 as applied to malignancies that present with PG and bone destruction. CONCLUSIONS: Once the diagnosis of the underlying systemic disease is confirmed, patients with PG should simultaneously receive aggressive treatment for the primary disease. More emphasis should be put on HE4 regarding the progression of monoclonal gammopathy-related PG with bone destruction to provide new ideas to understand the pathogenesis of this disease.


Assuntos
Terapia por Acupuntura , Mieloma Múltiplo , Pioderma Gangrenoso , Feminino , Humanos , Pessoa de Meia-Idade , Pioderma Gangrenoso/complicações , Pioderma Gangrenoso/terapia , Mieloma Múltiplo/complicações , Mieloma Múltiplo/terapia , Terapia por Acupuntura/efeitos adversos , Imunoglobulina G/uso terapêutico
14.
Front Genet ; 13: 1035037, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36704338

RESUMO

Infantile pustular psoriasis (IPP) is an extremely rare skin disease associated with genetic factors. Gene mutations of IL36RN (interleukin-36 receptor antagonist), CARD14 (caspase recruitment family member 14), and AP1S1 (the σ1C subunit of the adaptor protein complex 1) had been identified to be involved in the pathogenesis of IPP. IPP usually develops with no preceding psoriasis vulgaris (PV) or familial history. Here, we report a case of a 6-month-old infant and make the diagnosis of IPP by a series of examinations; subsequently, by detecting coexistent mutations of IL36RN and CARD14, the diagnosis is intensified from a genetic point of view. We treated the child with traditional oral and topical drugs regardless of the commonly used acitretin considering its potential side effects, such as skeletal toxicity, and the lesions got conspicuous improvement with much reduction of inflammation. Owing to the genetic mutation of IL-36, there had been reported cases focusing on anti-IL36 biological agents in the treatment of IPP, and it could be a new weapon to treat and improve such IL-36RN-deficient skin diseases.

15.
Ann Hum Genet ; 85(6): 213-220, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34145571

RESUMO

OBJECTIVE: Systemic lupus erythematosus (SLE) is a complex autoimmune disease with strong genetic predisposition. Genome-wide association studies (GWAS) of SLE have identified more than 50 robust susceptibility loci. However, traditional individual SNP-based GWAS have made it difficult to identify variants with small effects. Moreover, variants revealed by GWAS only explain a limited disease heritability, suggesting that many susceptibility genes remain uncovered. METHODS: We first curated the published SLE GWAS data from 1047 SLE patients and 1205 healthy controls of Chinese ancestry and performed a gene-based association study. Then quantitative reverse transcription-polymerase chain reaction (qRT-PCR) was conducted to verify novel genes identified above. RESULTS: Gene-based association study identified 10 SLE-associated genes, nine of which were reported by previous GWAS, the other one, ILRUN, is a newly identified gene and was further validated by qRT-PCR. Gene expression analysis of Gene Expression Omnibus (GEO) datasets also showed that the expression of ILRUN in patients with SLE was lower than that in normal subjects. CONCLUSION: In this study, gene-based association study and qRT-PCR identified that ILRUN is a novel susceptibility gene of SLE. ILRUN may regulate inflammation and antiviral response through its effect on the transcription of type I interferons )I-IFN, and participate in the pathogenesis of SLE.


Assuntos
Predisposição Genética para Doença , Lúpus Eritematoso Sistêmico/genética , Adulto , Povo Asiático , Estudos de Casos e Controles , China , Estudos de Associação Genética , Humanos , Polimorfismo de Nucleotídeo Único
16.
Exp Biol Med (Maywood) ; 246(8): 897-905, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33472424

RESUMO

Excessive proliferation of vascular endothelial cells can cause hemangioma. Although typically benign, hemangiomas can become life-threatening. The microRNA miR-200c-3p is abnormally expressed in some types of tumors, but its expression, biological role, and mechanism of action in infantile hemangioma remain to be fully elucidated. The expression levels of miR-200c-3p in hemangioma tissue were compared with those in adjacent healthy tissue by using bioinformatics analyses and TargetScan. Western blot, enzyme-linked immunosorbent assay, and Cell Counting Kit 8 analyses were used to determine the biological function and site of action of miR-200c-3p in human dermal microvascular endothelial cells (HDMECs). MiR-200c-3p was one of the top 10 differentially expressed genes between healthy tissue, and hemangiomas tissues, having markedly decreased expression in hemangioma tissue. Reduction of miR-200c-3p expression in HDMECs through the transfection of a miR-200c-3p inhibitor significantly increased HDMEC proliferation. The addition of the Notch signaling pathway inhibitor DAPT to HDMECs transfected with the miR-200c-3p inhibitor eliminated the inhibitor-induced enhancement of proliferation in HDMECs. These findings indicate that miR-200c-3p targets the Notch signaling pathway to promote the proliferation of vascular endothelial cells, suggesting that miR-200c-3p plays an important role in the pathogenesis of hemangioma.


Assuntos
Proliferação de Células , Derme/metabolismo , Células Endoteliais/metabolismo , MicroRNAs/metabolismo , Microvasos/metabolismo , Receptores Notch/metabolismo , Transdução de Sinais , Derme/irrigação sanguínea , Regulação da Expressão Gênica , Humanos , MicroRNAs/genética , Receptores Notch/genética
17.
Clin Rheumatol ; 40(1): 167-179, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32557257

RESUMO

OBJECTIVES: To explore the associations of FKBP4 and FKBP5 gene polymorphisms with disease susceptibility, glucocorticoid (GC) efficacy, anxiety, depression, and health-related quality of life (HRQOL) in systemic lupus erythematosus (SLE) patients. METHODS: All subjects were collected from the First and the Second Affiliated Hospital of Anhui Medical University in Hefei, China, during 2011 to 2015. In the case-control study, 541 SLE patients and 543 controls were recruited. In the follow-up study, 466 patients completed the 12-week follow-up and then were divided into GC-sensitive and GC-insensitive groups. Genotyping was determined using Multiplex SNaPshot technique. Data were analyzed using chi-square test and univariate and multivariate logistic regression analyses. RESULTS: rs4713904, rs9368878, and rs7757037 of FKBP5 were associated with depression in SLE patients (rs4713904, PBH = 0.037; rs9368878, PBH = 0.001; rs7757037, PBH = 0.003). Moreover, rs4713904 was associated with GC efficacy in males with SLE (PBH = 0.011). The rs755658 of FKBP5 was associated with improvement in social function (PBH = 0.022) and mental component summary (PBH = 0.028). The rs4713907 of FKBP5 was related to improvement in total score of SF-36, bodily pain, and mental component summary score (all PBH = 0.018). Furthermore, the rs12582595 of FKBP4 was correlated with general health improvement (PBH = 0.033). No associations were seen between FKBP4/FKBP5 gene polymorphisms and SLE susceptibility and anxiety. CONCLUSIONS: FKBP5 gene polymorphisms may be associated with depression and GC efficacy of SLE patients. Meanwhile, the genetic polymorphisms of FKBP4 and FKBP5 genes may be associated with HRQOL improvement in SLE patients. Key Points • FKBP5 gene polymorphisms were associated with depression of SLE patients. • FKBP5 gene polymorphisms were associated with GC efficacy of SLE patients. • FKBP5 gene polymorphisms were associated with HRQOL improvement in SLE patients. • FKBP4 gene polymorphisms were associated with HRQOL improvement in SLE patients.


Assuntos
Lúpus Eritematoso Sistêmico , Qualidade de Vida , Proteínas de Ligação a Tacrolimo , Ansiedade/genética , Estudos de Casos e Controles , China , Seguimentos , Glucocorticoides/uso terapêutico , Humanos , Lúpus Eritematoso Sistêmico/genética , Masculino
18.
J Clin Rheumatol ; 26(4): 134-141, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32453286

RESUMO

OBJECTIVES: The aim of this study is to investigate whether heat shock protein 70 (Hsp70) gene polymorphisms are implicated in systemic lupus erythematous (SLE) susceptibility, the efficacy of glucocorticoids (GCs) treatment, and improvement of health-related quality of life. METHODS: A total of 499 SLE patients and 499 controls were included in a case-control study, and 468 SLE patients treated with GCs for 12 weeks were involved in a follow-up study. Patients who completed the 12-week follow-up were divided into GCs-sensitive and GCs-insensitive group by using the SLE disease activity index. The SF-36 was used to evaluate the health-related quality of life of SLE patients, and genotyping was performed by improved multiplex ligation detection reaction. RESULTS: rs2075800 was associated with SLE susceptibility (adjusted odds ratio [ORadj], 1.437; 95% confidence interval [CI], 1.113-1.855; Padj = 0.005; PBH = 0.020 by dominant model; ORadj, 1.602; 95% CI, 1.072-2.395; Padj = 0.022; PBH = 0.029 by TT vs CC model; ORadj = 1.396; 95% CI = 1.067-1.826; Padj = 0.015; PBH = 0.029 by TC vs CC model). In the follow-up study, rs2075799 was associated with the improvement in mental health (p = 0.004, PBH = 0.044), but we failed to find any association between the efficacy of GCs and Hsp70 gene polymorphisms. CONCLUSIONS: Hsp70 gene polymorphisms may be associated with susceptibility to SLE and improvement of mental health in Chinese Han population.


Assuntos
Glucocorticoides/farmacologia , Proteínas de Choque Térmico HSP70/genética , Lúpus Eritematoso Sistêmico , Qualidade de Vida , Estudos de Casos e Controles , China/epidemiologia , Feminino , Predisposição Genética para Doença , Humanos , Lúpus Eritematoso Sistêmico/tratamento farmacológico , Lúpus Eritematoso Sistêmico/etnologia , Lúpus Eritematoso Sistêmico/genética , Lúpus Eritematoso Sistêmico/psicologia , Masculino , Gravidade do Paciente , Farmacogenética/métodos , Farmacogenética/estatística & dados numéricos , Polimorfismo de Nucleotídeo Único
19.
Photodiagnosis Photodyn Ther ; 30: 101781, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32315778

RESUMO

OBJECTIVES: To observe the clinical efficacy of photodynamic therapy mediated by hemoporfin (HMME-PDT) for port-wine stains (PWS) on extremities and explore its possible influencing factors. METHODS: Four patients with PWS in extremities were treated by HMME-PDT, and patients with negative results in the skin test were given an intravenous injection of 5 mg/kg of HMME. The patients were irradiated with 532 nm LED green light, and immediately applied cold compress after treatment. These patients were informed to stay away from light for two weeks. A follow-up every 2 weeks was conducted with treatment for 2 or 3 times in total. After the end of treatment, a follow-up was carried out for 6-12 months and the efficacy and safety were evaluated. RESULT: Three of the four patients were considered cured, and the treatment was ineffective for one patient. During the follow-up observation, all patients had different degrees of edema, and there were no signs of chromatosis or scarring. CONCLUSION: PDT treatment for patients with extremity PWS demonstrate high efficiency and safety, without obvious adverse reactions and recurrence.


Assuntos
Hematoporfirinas/uso terapêutico , Fotoquimioterapia/métodos , Fármacos Fotossensibilizantes/uso terapêutico , Mancha Vinho do Porto/tratamento farmacológico , Criança , Extremidades , Feminino , Humanos , Masculino , Fotoquimioterapia/efeitos adversos , Adulto Jovem
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