CAP2 contributes to Parkinson's disease diagnosed by neutrophil extracellular trap-related immune activity.

Introduction: Neutrophil extracellular traps (NETs) constitute a crucial element of the immune system, and dysfunction in immune responses is implicated in the susceptibility and progression of Parkinson's disease (PD). Nevertheless, the mechanism connecting PD and NETs remains unclear. This study aims to uncover potential NETs-related immune biomarkers and elucidate their role in PD pathogenesis. Methods: Through differential gene analysis of PD and NETs in GSE7621 datasets, we identified two PD subtypes and explored potential biological pathways. Subsequently, using ClusterWGCNA, we pinpointed pertinent genes and developed clinical diagnostic models. We then optimized the chosen model and evaluated its association with immune infiltration. Validation was conducted using the GSE20163 dataset. Screening the single-cell dataset GSE132758 revealed cell populations associated with the identified gene. Results: Our findings identified XGB as the optimal diagnostic model, with CAP2 identified as a pivotal gene. The risk model effectively predicted overall diagnosis rates, demonstrating a robust correlation between infiltrating immune cells and genes related to the XGB model. Discussion: In conclusions, we identified PD subtypes and diagnostic genes associated with NETs, highlighting CAP2 as a pivotal gene. These findings have significant implications for understanding potential molecular mechanisms and treatments for PD.

Primary Cutaneous Anaplastic Large Cell Lymphoma Arising in a Patient with Rhupus Syndrome and Sjogren's Syndrome.

Rhupus syndrome, as an overlap syndrome of rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE), is relatively rare because of their substantially different immunopathological mechanisms. Herein, we report the first case of primary cutaneous anaplastic large cell lymphoma (PC-ALCL) in a patient with rhupus syndrome and Sjogren's syndrome and review the relevant literature. A 52-year-old Chinese woman with a history of rhupus syndrome and Sjogren's syndrome was treated with methotrexate, who developed gradually increasing nodules on the waist. Histopathological studies showed that the dermis and subcutaneous tissue were infiltrated with medium-to-large, atypical lymphocytes with the oval nucleus. The tumor cells showed CD3-, CD4-, CD8-, CD30+, LCA+, and EBV-encoded RNA (EBER) in situ hybridization (ISH) was positive. Therefore, the patient was diagnosed with PC-ALCL. Both immune disorders and EBV infection may be related to the onset of PL-ALCL, and further studies are needed to clarify the pathogenesis.

Evaluation of the potential interference of camouflage on the treatment of vitiligo: An observer-blinded self-controlled study.

Camouflage improves the quality of life in vitiligo patients. However, whether the use of camouflage interferes the efficacy of the treatment of vitiligo remains controversial. To evaluate the impact and safety of dihydroxyacetone (DHA)-containing camouflage on the treatment of vitiligo. Thirty patients were enrolled. Comparable vitiliginous patches in each patient were randomly divided into camouflage group or blank group. The therapeutic modalities including topical corticosteroids with or without NB-UVB phototherapy were applied to both groups of lesions. The outcomes were assessed at baseline and then every 4 weeks for up to 12 weeks, including types of repigmentation patterns, percentage of repigmentation, trans epidermal water loss (TEWL), and adverse events. Twenty-eight patients completed the study. There were no differences in repigmentation types and percentage of repigmentation at the endpoint of study between two groups. No difference in TEWL was found at the end of the study between the two groups. Temporary skin irritation (itching and tingling) occurred in one patient in camouflage group after phototherapy between 8 and 12 weeks' treatment. DHA-containing camouflage is a safe make-up for vitiligo. It has little impact on the efficacy of the treatment of vitiligo or on the function of skin barrier.

Safety and efficacy of low fluence, high repetition rate versus high fluence, low repetition rate 810-nm diode laser for axillary hair removal in Chinese women.

BACKGROUND: High-fluence diode lasers with contact cooling have emerged as the gold standard to remove unwanted hair. Lowering the energy should result in less pain and could theoretically affect the efficacy of the therapy. OBJECTIVE: To compare the safety and efficacy of a low fluence high repetition rate 810-nm diode laser to those of a high fluence, low repetition rate diode laser for permanent axillary hair removal in Chinese women. METHODS: Ninety-two Chinese women received four axillae laser hair removal treatments at 4-week intervals using the low fluence, high repetition rate 810-nm diode laser in super hair removal (SHR) mode on one side and the high fluence, low repetition rate diode laser in hair removal (HR) mode on the other side. Hair counts were done at each follow-up visit and 6-month follow-up after the final laser treatment using a "Hi Quality Hair Analysis Program System"; the immediate pain score after each treatment session was recorded by a visual analog scale. RESULTS: The overall median reduction of hair was 90.2% with the 810-nm diode laser in SHR mode and 87% with the same laser in HR mode at 6-month follow-up. The median pain scores in SHR mode and in HR mode were 2.75 and 6.75, respectively. CONCLUSION: Low fluence, high repetition rate diode laser can efficiently remove unwanted hair but also significantly improve tolerability and reduce adverse events during the course of treatment.

Effect and mechanism of tacrolimus on melanogenesis on A375 human melanoma cells.

BACKGROUND: Topical tacrolimus has been used for vitiligo as a common treatment option for more than ten years while the underlying mechanism is still uncertain. The aim of this study was to investigate the direct effects of tacrolimus on the melanogenesis and migration on human A375 melanoma cells. The expression of c-KIT mRNA and protein of human A375 cells were also investigated. METHODS: The cultured A375 human melanoma cells were randomly assigned to control and tacrolimus treatment groups (10, 10(2), 10(3) and 10(4) nmol/L). The cell proliferation was measured with Cell Counting Kit-8 assays. Melanin content was measured with NaOH method. Transwell migration assay was used to measure cell migration. The expression of c-KIT mRNA and protein were measured with real-time fluorescence quantitative polymerase chain reaction and immunohistochemistry respectively. RESULTS: The cell proliferation of the 10(3) and 10(4) nmol/L tacrolimus groups were significantly lower (0.666 ± 0.062 and 0.496 ± 0.038) as compared with the control (0.841 ± 0.110, P < 0.05). The mean melanin content in all groups treated with different concentration of tacrolimus (10, 10(2), 10(3), 10(4) nmol/L) increased compared with the control group (P < 0.05). Dose-dependent increase in cell migration were seen in all tacrolimus-treated groups (P < 0.01). The expression of c-KIT mRNA level in A375 cells exposed to tacrolimus (10(3) and 10(4) nmol/L) had significantly increased by 3.03-fold and 3.19-fold respectively compared with the control (P < 0.05). CONCLUSIONS: Although tacrolimus had no effects on cell proliferation on A375 human melanoma cells, it could increase the melanin content and cell migration. The expression of c-KIT mRNA and protein increased dose-dependently in tacrolimus-treated groups as compared with the control. Our study demonstrated that tacrolimus could enhance the melanogenesis and cell migration on A375 cells.

A novel mutation of the KIT gene in a Chinese family with piebaldism.

BACKGROUND: Human piebaldism is a rare autosomal dominant condition characterized by congenital white forelock and depigmented patches of skin, typically on the forehead, anterior trunk and extremities. Mutations in the KIT gene have been proposed to be responsible for the underlying changes in this disorder. The aim of this study was to identify gene mutation in a Chinese family with piebaldism. METHODS: A Chinese family with piebaldism presenting with white forelock and large depigmented skin macules on the abdomen, arms and legs was collected. DNA was isolated from peripheral blood of the family members. The encoding exons with flanking intron regions of the KIT gene were analyzed by polymerase chain reactions (PCR) and direct DNA sequencing. Besides, DNA extracted from 100 ethnically matched population individuals was as controls. RESULTS: A heterozygous missense mutation c.2590T > C was identified in the patients of the family. This mutation converted a serine residue to proline (p.Ser864Pro). The mutation was not found in their unaffected family members or normal controls. CONCLUSION: A novel missense mutation c.2590 T > C was found and it might play a significant role in the piebaldism phenotype in the family.

[Effects of 1alpha,25-dihydroxyvitamin D(3) and UVB on cell proliferation and melanin synthesis of cultured human melanocyte].

OBJECTIVE: To study the effects of 1alpha,25-dihydroxyvitamin D(3) and UVB on cell proliferation and melanin synthesis of normal human melanocytes. METHODS: Melanocytes of foreskins of healthy men were cultured and treated with various concentration of 1alpha,25-dihydroxyvitamin D(3) or UVB (55 mJ/cm(2)),or both. Cell proliferation was measured with MTT assay .The synthesis of melanin was determined by chromatography. RESULTS: 1alpha,25-dihydroxyvitamin D(3) and UVB could promote the proliferation of cultured melanocyte,and 1alpha,25-dihydroxyvitamin D(3) could promote the melanin synthesis. The significant concentration of 1alpha,25-dihydroxyvitamin D(3) ranging from 10(-7) to 10(-10) mol/L. CONCLUSION: 1alpha,25-dihydroxyvitamin D(3) and UVB irradiation could promote the proliferation of melanocyte,which indicates that they might be effective in the treatment of vitiligo.