An Open Label Evaluation of Intralesional Injection of Sodium Thiosulfate in the Treatment of Cutaneous or Tendon Calcinosis in Connective Tissue Disease

The specific objective of this study is to perform a small, open-label study to assess the safety and efficacy of intralesional, subcutaneous injection of STS on calcinosis symptoms and lesion size in systemic sclerosis (SSc), mixed connective tissue disease (MCTD) and dermatomyositis (DM) patients. Injection will be guided by ultrasound, lesion size assessed by ultrasound, and symptom burden by patient-reported outcome measures.

开始日期2025-03-17

申办/合作机构

University of Pittsburgh

[+1]

NCT06446505

/ RecruitingN/AIIT

Feasibility, Acceptability, and Effectiveness of an Online Decision Aid for Patients With Parkinson's Disease Considering Deep Brain Stimulation Surgery Using a Pragmatic, Randomized Pilot Trial

The goal of this clinical trial is to learn if a Decision Aid can help patients with Parkinson's disease make a decision about undergoing Deep Brain Stimulation surgery. The main questions it aims to answer are:
Is the Decision Aid acceptable to patients with Parkinson's disease considering Deep Brain Stimulation surgery?
Does the decision aid improve decision quality (informed, value-based decision) and uncertainty about the decision?
Researchers will compare immediate use of the decision aid during the evaluation process for deep brain stimulation surgery to delayed introduction of the decision aid.
Participants will:
Receive the decision aid at the beginning of the evaluation process or towards the end
Complete surveys at 5 visits (remote or in-person) over approximately 6 months

开始日期2024-06-01

申办/合作机构

University of Colorado Denver

[+1]

NCT05736393

/ RecruitingN/AIIT

Translation of Robotic Apparel for Alleviating Low Back Pain: Back Pain Consortium (BACPAC)

This is a NIAMS-sponsored clinical trial being conducted through the NIH Helping to End Addition Long-term (HEAL) Initiative's Back Pain Consortium (BACPAC) Research Program. This is a single-arm controlled trial with individuals aged 18-70 with low back pain (LBP). This study investigates the effect(s) of augmenting physical therapy (PT) interventions with the use of an experimental wearable soft robotic device ('exosuit').

开始日期2024-03-15

申办/合作机构

Winthrop University

[+2]

100 项与 NIAMS 相关的临床结果

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0 项与 NIAMS 相关的专利（医药）

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316

项与 NIAMS 相关的文献（医药）

2025-07-01·Life Science Alliance

STAT5B leukemic mutations, altering SH2 tyrosine 665, have opposing impacts on immune gene programs

Article

作者: Haferlach, Claudia ; Lee, Sung-Gwon ; Villarino, Alejandro V ; Hennighausen, Lothar ; Chen, Jichun ; Feng, Xingmin ; O’Shea, John J ; Philips, Rachael L ; Birnbaum, Foster ; Meggendorfer, Manja ; Liu, Chengyu ; Dalzell, Molly ; Schultz, Aaron B ; Sexton, Joel A ; Wu, Zhijie ; Young, Neal S ; Furth, Priscilla A ; Keating, Amy E ; Lee, Hye Kyung

STAT5B is a vital transcription factor for lymphocytes. Here, the function of two STAT5B mutations from human T-cell leukemias: one substituting tyrosine 665 with phenylalanine (STAT5BY665F) and the other with histidine (STAT5BY665H), was interrogated. In silico modeling predicted divergent energetic effects on homodimerization with a range of pathogenicity. In primary T cells in vitro, STAT5BY665Fshowed gain-of-function, whereas STAT5BY665Hdemonstrated loss-of-function. Introducing the mutation into the mouse genome illustrated that the gain-of-functionStat5bY665Fmutation resulted in accumulation of CD8+effector and memory and CD4+regulatory T cells, altering CD8+/CD4+ratios. In contrast, STAT5BY665H“knock-in” mice showed diminished CD8+effector and memory and CD4+regulatory T cells. In contrast to WT STAT5B, the STAT5BY665Fvariant displayed greater STAT5 phosphorylation, DNA binding, and transcriptional activity after cytokine activation, whereas the STAT5BY665Hvariant resembled a null. The work exemplifies how joining in silico and in vivo studies of single nucleotides deepens our understanding of disease-associated variants, revealing structural determinants of altered function, defining mechanistic roles, and, specifically here, identifying a gain-of-function variant that does not directly induce hematopoietic malignancy.

2025-05-01·Dermatology and Therapy

Risk of Superficial Fungal Infections in WHIM Syndrome

Article

作者: Meltzer, Jasmine C ; Martinez, Sophia ; Castelo-Soccio, Leslie ; Adhanom, Rutha ; McDermott, David H ; Brownell, Isaac ; Strong, Jennifer ; Salancy, Abigail ; Murphy, Philip M ; Hallaert, Patrick ; Kong, Heidi H ; Kim, Caleb S ; Cowen, Edward W ; Saito, Yoshine

INTRODUCTIONWHIM syndrome is a rare autosomal dominant inborn error of immunity caused by gain-of-function mutations in the chemokine receptor CXCR4. Patients with WHIM syndrome frequently suffer from an increased risk for bacterial and viral infections, especially warts due to human papillomavirus. Associations between WHIM syndrome and fungal infections have not been previously identified. The objective of this study was to estimate the prevalence of superficial fungal infections in patients with WHIM syndrome.METHODSThis retrospective single-institution cohort study assessed patients with genotype-confirmed WHIM syndrome evaluated between March 2007 and March 2024.RESULTSOf 45 patients with WHIM syndrome, 18 (40%) were diagnosed with at least one superficial fungal infection. These infections included dermatophytosis (n = 14, 78%), pityriasis versicolor (n = 6, 33%), and pityrosporum folliculitis (n = 1, 6%). No correlation was detected between superficial fungal infection risk and the degree of peripheral neutropenia, lymphopenia, or hypogammaglobulinemia. The median time to resolution of the longest episode of superficial dermatophytosis (skin or hair) was 171.5 (range 53-3650) days, and several patients experienced prolonged courses requiring serial retreatments.CONCLUSIONSThese findings suggest that frequent or prolonged superficial fungal infections may be a useful clinical sign to prompt consideration of a WHIM syndrome diagnosis, especially in patients with numerous cutaneous warts or other history to suggest immunodeficiency.TRIAL REGISTRATIONParticipants were enrolled in a natural history trial registered with ClinicalTrials.gov (NCT00128973).

2025-04-01·Journal of Investigative Dermatology

Highlights from the Field of Pediatric Dermatology Research from the 2023 PeDRA Annual Conference

Article

作者: Wine Lee, Lara ; Hawryluk, Elena B ; Cotton, Colleen H ; Chang, Hannah R ; Fernández Faith, Esteban ; Siegel, Dawn H ; Dykman, Morgan ; Lawley, Leslie ; Arkin, Lisa ; Coughlin, Carrie C ; Yu, JiaDe ; Siegel, Michael ; Castelo-Soccio, Leslie ; Marathe, Kalyani

100 项与 NIAMS 相关的药物交易

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100 项与 NIAMS 相关的转化医学

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