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Book ; Online ; E-Book: Textbook of pediatric rheumatology

Petty, Ross E. / Laxer, Ronald M. / Lindsley, Carol B. / Wedderburn, Lucy R. / Mellins, Elizabeth D. / Fuhlbrigge, Robert C.

(Expert consult)

2022

Title variant	Pediatric rheumatology
Author's details	Ross E. Petty, Ronald M. Laxer, Carol B. Lindsley, Lucy R. Wedderburn, Elizabeth D. Mellins, Robert C. Fuhlbrigge
Series title	Expert consult
Keywords	Electronic books
Language	English
Size	1 Online-Ressource (748 Seiten), Illustrationen, Diagramme
Edition	Eight edition
Publisher	Elsevier
Publishing place	Philadelphia, PA
Publishing country	United States
Document type	Book ; Online ; E-Book
Remark	Zugriff für angemeldete ZB MED-Nutzerinnen und -Nutzer
HBZ-ID	HT020937720
ISBN	978-0-323-63653-7 ; 9780323636520 ; 0-323-63653-5 ; 0323636527
Database	ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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Article ; Online: Joint-specific memory, resident memory T cells and the rolling window of opportunity in arthritis.

Chang, Margaret H / Fuhlbrigge, Robert C / Nigrovic, Peter A

Nature reviews. Rheumatology

2024 Volume 20, Issue 5, Page(s) 258–271

Abstract: In rheumatoid arthritis, juvenile idiopathic arthritis and other forms of inflammatory arthritis, the immune system targets certain joints but not others. The pattern of joints affected varies by disease and by individual, with flares most commonly ... ...

Abstract	In rheumatoid arthritis, juvenile idiopathic arthritis and other forms of inflammatory arthritis, the immune system targets certain joints but not others. The pattern of joints affected varies by disease and by individual, with flares most commonly involving joints that were previously inflamed. This phenomenon, termed joint-specific memory, is difficult to explain by systemic immunity alone. Mechanisms of joint-specific memory include the involvement of synovial resident memory T cells that remain in the joint during remission and initiate localized disease recurrence. In addition, arthritis-induced durable changes in synovial fibroblasts and macrophages can amplify inflammation in a site-specific manner. Together with ongoing systemic processes that promote extension of arthritis to new joints, these local factors set the stage for a stepwise progression in disease severity, a paradigm for arthritis chronicity that we term the joint accumulation model. Although durable drug-free remission through early treatment remains elusive for most forms of arthritis, the joint accumulation paradigm defines new therapeutic targets, emphasizes the importance of sustained treatment to prevent disease extension to new joints, and identifies a rolling window of opportunity for altering the natural history of arthritis that extends well beyond the initiation phase of disease.
MeSH term(s)	Humans ; Memory T Cells/immunology ; Arthritis, Rheumatoid/immunology ; Joints/immunology ; Joints/pathology ; Immunologic Memory/immunology ; Disease Progression ; Animals ; Synovial Membrane/immunology ; Synovial Membrane/pathology ; Arthritis/immunology
Language	English
Publishing date	2024-04-10
Publishing country	United States
Document type	Journal Article ; Review ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2491532-4
ISSN	1759-4804 ; 1759-4790
ISSN (online)	1759-4804
ISSN	1759-4790
DOI	10.1038/s41584-024-01107-7
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Article ; Online: Why so low? An unusual case of myositis in a child.

Chriswell, Meagan E / Fuhlbrigge, Robert C / Lovell, Mark A / Monson, Matthew / Bloom, Jessica L

Pediatric rheumatology online journal

2023 Volume 21, Issue 1, Page(s) 36

Abstract: Background: Sarcoidosis is characterized by non-caseating epithelioid granulomas in various tissues throughout the body, most commonly the lung. Non-caseating granulomas may be seen in skeletal muscle, though typically asymptomatic and under-recognized. ...

Abstract	Background: Sarcoidosis is characterized by non-caseating epithelioid granulomas in various tissues throughout the body, most commonly the lung. Non-caseating granulomas may be seen in skeletal muscle, though typically asymptomatic and under-recognized. While rare in children, there is a need to better characterize the disease and its management. Here we present a 12-year-old female with bilateral calf pain who was ultimately found to have sarcoid myositis. Case presentation: A 12-year-old female presented to rheumatology with significantly elevated inflammatory markers and isolated lower leg pain. MRI of the distal lower extremities demonstrated extensive bilateral myositis with active inflammation, atrophy, and to a lesser extent fasciitis. This distribution of myositis in a child garnered a broad differential requiring a systematic evaluation. Ultimately, muscle biopsy revealed non-caseating granulomatous myositis with perivascular inflammation, extensive muscle fibrosis, and fatty replacement of the muscle with a CD4+ T cell predominant, lymphohistiocytic infiltrate consistent with sarcoidosis. Review of histopathology from age 6 of an extraconal mass resected from her right superior rectus muscle further confirmed the diagnosis. She had no other clinical symptoms or findings of sarcoidosis. The patient improved significantly with methotrexate and prednisone, though flared again after self-discontinuation of medications and was subsequently lost to follow-up. Conclusion: This is the second reported case of granulomatous myositis associated with sarcoidosis in a pediatric patient, and the first to present with a chief complaint of leg pain. Increased knowledge of pediatric sarcoid myositis within the medical community will enhance recognition of the disease, improve the evaluation of lower leg myositis, and advance outcomes for this vulnerable population.
MeSH term(s)	Child ; Female ; Humans ; Biomarkers/blood ; Biomarkers/metabolism ; Fasciitis/diagnosis ; Fibrosis ; Granuloma/diagnosis ; Granuloma/pathology ; Lower Extremity/pathology ; Myositis/diagnosis ; Myositis/pathology ; Pain/etiology ; Sarcoidosis/diagnosis ; Sarcoidosis/pathology
Chemical Substances	Biomarkers
Language	English
Publishing date	2023-04-18
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	2279468-2
ISSN	1546-0096 ; 1546-0096
ISSN (online)	1546-0096
ISSN	1546-0096
DOI	10.1186/s12969-023-00816-9
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Article ; Online: CARRA: The Childhood Arthritis and Rheumatology Research Alliance.

Fuhlbrigge, Robert C / Schanberg, Laura E / Kimura, Yukiko

Rheumatic diseases clinics of North America

2021 Volume 47, Issue 4, Page(s) 531–543

Abstract: The Childhood Arthritis & Rheumatology Research Alliance (CARRA) launched in 2000 as a small network of pediatric rheumatologists and investigators dedicated to promoting collaborative research to improve the care and outcomes of childhood-onset ... ...

Abstract	The Childhood Arthritis & Rheumatology Research Alliance (CARRA) launched in 2000 as a small network of pediatric rheumatologists and investigators dedicated to promoting collaborative research to improve the care and outcomes of childhood-onset rheumatic diseases. Over the past 2 decades, CARRA has grown to become a major driver of advances in evidence-based medicine and career development in pediatric rheumatology. Its research approach has transformed pediatric rheumatology. CARRA is a vibrant organization that will continue to facilitate impactful research in the care of children, adolescents, and young adults with rheumatic disease in the years to come.
MeSH term(s)	Adolescent ; Arthritis, Juvenile ; Child ; Humans ; Rheumatic Diseases/therapy ; Rheumatology ; Young Adult
Language	English
Publishing date	2021-09-02
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	92118-x
ISSN	1558-3163 ; 0889-857X
ISSN (online)	1558-3163
ISSN	0889-857X
DOI	10.1016/j.rdc.2021.07.010
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Article ; Online: Cognitive dysfunction in pediatric systemic lupus erythematosus: current knowledge and future directions.

Kammeyer, Ryan / Ogbu, Ekemini A / Cooper, Jennifer C / Stolz, Erin / Piquet, Amanda L / Fuhlbrigge, Robert C / Bennett, Jeffrey L / Hutaff-Lee, Christa

Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence

2023 , Page(s) 1–29

Abstract: Cognitive dysfunction (CD) is a neurologic complication of pediatric systemic lupus erythematosus (SLE) that remains poorly understood and understudied, despite the potential negative effects of CD on long-term socioeconomic status and quality of life. ... ...

Abstract	Cognitive dysfunction (CD) is a neurologic complication of pediatric systemic lupus erythematosus (SLE) that remains poorly understood and understudied, despite the potential negative effects of CD on long-term socioeconomic status and quality of life. Data regarding the prevalence and risk factors for CD in pediatric SLE as well as the optimal screening, treatment, and long-term outcomes for CD are lacking. In this review, we present current knowledge on CD in pediatric SLE with a focus on the application to clinical practice. We discuss the challenges in diagnosis, clinical screening methods, potential impacts, and interventions for this complication. Finally, we discuss the remaining gaps in our knowledge of CD in pediatric SLE, and avenues for future research efforts.
Language	English
Publishing date	2023-10-30
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	1262599-1
ISSN	1744-4136 ; 0929-7049
ISSN (online)	1744-4136
ISSN	0929-7049
DOI	10.1080/09297049.2023.2273573
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Article ; Online: Children With Enthesitis-Related Arthritis and Possible Benefits From Treatments for Adults With Spondyloarthritis.

Weiss, Pamela F / Fuhlbrigge, Robert C / von Scheven, Emily / Lovell, Daniel J / Colbert, Robert A / Brunner, Hermine I

Arthritis care & research

2022 Volume 74, Issue 7, Page(s) 1058–1064

Abstract: This review will summarize clinical, genetic, and pathophysiologic characteristics that are shared between children with enthesitis-related arthritis (ERA) with axial involvement and adults with nonradiographic (and in some cases radiographic) axial ... ...

Abstract	This review will summarize clinical, genetic, and pathophysiologic characteristics that are shared between children with enthesitis-related arthritis (ERA) with axial involvement and adults with nonradiographic (and in some cases radiographic) axial spondyloarthritis (SpA), as well as between children with ERA and primarily peripheral disease manifestations and adults with peripheral SpA. Due to the differences in classification criteria for children with ERA and adults with axial and peripheral SpA, the US Food and Drug Administration (FDA) granted automatic full waivers of studies in children for new medications for "axial spondyloarthropathies including ankylosing spondylitis" up until July 2020. Thus, although current juvenile idiopathic arthritis treatment guidelines recommend the use of biologic disease-modifying antirheumatic drugs as part of the early treatment for patients with ERA, none of the FDA-approved therapies for peripheral SpA or nonradiographic axial SpA (certolizumab pegol, ixekizumab, and secukinumab) have been studied or are labeled for use in children with ERA. Considering the similarities between adult SpA and ERA in terms of etiology, genetics, pathogenesis, and clinical manifestations summarized in this review, medications approved for axial SpA or peripheral SpA should also be studied in children with active ERA involving axial or peripheral joints, respectively, with the intent to achieve labeling for use in children. Considering the current lack of effective FDA-approved therapies for ERA, the FDA should also consider requiring pediatric studies for medications that have already been approved for the treatment of adults with SpA.
MeSH term(s)	Adult ; Antirheumatic Agents/therapeutic use ; Arthritis, Juvenile/diagnosis ; Arthritis, Juvenile/drug therapy ; Child ; Humans ; Spondylarthritis/diagnosis ; Spondylarthritis/drug therapy ; Spondylarthropathies ; Spondylitis, Ankylosing/drug therapy
Chemical Substances	Antirheumatic Agents
Language	English
Publishing date	2022-04-15
Publishing country	United States
Document type	Journal Article ; Review ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural
ZDB-ID	645059-3
ISSN	2151-4658 ; 0893-7524 ; 2151-464X
ISSN (online)	2151-4658
ISSN	0893-7524 ; 2151-464X
DOI	10.1002/acr.24529
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Article ; Online: Capturing the Range of Disease Involvement in Localized Scleroderma: The Localized Scleroderma Total Severity Scale.

Li, Suzanne C / Rabinovich, C Egla / Becker, Mara L / Torok, Kathryn S / Ferguson, Polly J / Dedeoglu, Fatma / Hong, Sandy / Sivaraman, Vidya / Laxer, Ronald M / Stewart, Katie / Ibarra, Maria F / Mason, Thomas / Higgins, Gloria / Pope, Elena / Li, Xiaohu / Lozy, Tara / Fuhlbrigge, Robert C

Arthritis care & research

2024 Volume 76, Issue 5, Page(s) 616–626

Abstract: Objective: Juvenile localized scleroderma (jLS) is a chronic autoimmune disease commonly associated with poor outcomes, including contractures, hemiatrophy, uveitis, and seizures. Despite improvements in treatment, >25% of patients with jLS have ... ...

Abstract	Objective: Juvenile localized scleroderma (jLS) is a chronic autoimmune disease commonly associated with poor outcomes, including contractures, hemiatrophy, uveitis, and seizures. Despite improvements in treatment, >25% of patients with jLS have functional impairment. To improve patient evaluation, our workgroup developed the Localized scleroderma Total Severity Scale (LoTSS), an overall disease severity measure. Methods: LoTSS was developed as a weighted measure by a consensus process involving literature review, surveys, case vignettes, and multicriteria decision analysis. Feasibility was assessed in larger Childhood Arthritis and Rheumatology Research Alliance groups. Construct validity with physician assessment and inter-rater reliability was assessed using case vignettes. Additional evaluation was performed in a prospective patient cohort initiating treatment. Results: LoTSS severity items were organized into modules that reflect jLS disease patterns, with modules for skin, extracutaneous, and craniofacial manifestations. Construct validity of LoTSS was supported by a strong positive correlation with the Physician Global Assessment (PGA) of severity and damage and weak positive correlation with PGA-Activity, as expected. LoTSS was responsive, with a small effect size identified. Moderate-to-excellent inter-rater reliability was demonstrated. LoTSS was able to discriminate between patient subsets, with higher scores identified in those with greater disease burden and functional limitation. Conclusion: We developed a new LS measure for assessing cutaneous and extracutaneous severity and have shown it to be reliable, valid, and responsive. LoTSS is the first measure that assesses and scores all the major extracutaneous manifestations in LS. Our findings suggest LoTSS could aid assessment and management of patients and facilitate outcome evaluation in treatment studies.
MeSH term(s)	Humans ; Scleroderma, Localized/diagnosis ; Scleroderma, Localized/physiopathology ; Scleroderma, Localized/complications ; Severity of Illness Index ; Female ; Male ; Child ; Reproducibility of Results ; Adolescent ; Feasibility Studies ; Prospective Studies ; Consensus ; Observer Variation ; Scleroderma, Systemic
Language	English
Publishing date	2024-02-15
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
ZDB-ID	645059-3
ISSN	2151-4658 ; 0893-7524 ; 2151-464X
ISSN (online)	2151-4658
ISSN	0893-7524 ; 2151-464X
DOI	10.1002/acr.25281
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Article ; Online: The Impact of Altitude at Birth on Perinatal Respiratory Support for Neonates with Trisomy 21.

Bloom, Jessica L / Furniss, Anna / Suresh, Krithika / Fuhlbrigge, Robert C / Lamb, Molly M / Rosenberg, Sophie / Edwards, Anastasia / O'Leary, Sean T

American journal of perinatology

2021 Volume 40, Issue 14, Page(s) 1515–1520

Abstract: Objective: Both high altitude and trisomy 21 (T21) status can negatively impact respiratory outcomes. The objective of this study was to examine the association between altitude and perinatal respiratory support in neonates with T21 compared with those ... ...

Abstract	Objective: Both high altitude and trisomy 21 (T21) status can negatively impact respiratory outcomes. The objective of this study was to examine the association between altitude and perinatal respiratory support in neonates with T21 compared with those without T21. Study design: This retrospective cohort study used the United States all-county natality files that included live, singleton, in-hospital births from 2015 to 2019. Descriptive statistics for neonates with and without the primary outcome of sustained assisted ventilation (>6 hours) were compared using Results: A total of 17,939,006 neonates, 4,059 (0.02%) with T21 and 17,934,947 (99.98%) without, were included in the study. The odds of requiring sustained respiratory support following delivery were 5.95 (95% confidence interval [CI]: 5.31, 6.66), 4.06 (95% CI: 2.39, 6.89), 2.36 (95% CI: 1.64, 3.40), and 5.04 (95% CI: 1.54, 16.54) times as high for neonates with T21 than without T21 when born at low, medium, high, and very high elevations, respectively. The odds of requiring immediate ventilation support following delivery were 5.01 (95% CI: 4.59, 5.46), 5.90 (95% CI: 4.16, 8.36), 2.86 (95% CI: 2.15, 3.80), and 12.08 (95% CI: 6.78, 21.51) times as high for neonates with T21 than without T21 when born at low, medium, high, and very high elevation, respectively. Conclusion: Neonates with T21 have increased odds of requiring respiratory support following delivery when compared with neonates without T21 at all categories of altitude. However, the odds ratios did not increase monotonically with altitude which indicates additional research is critical in understanding the effects of altitude on neonates with T21. Key points: · Neonates with T21 have an increased need for perinatal respiratory support at all altitudes.. · The odds of needing perinatal respiratory support did not increase monotonically with elevation.. · Additional research is critical to understanding the effects of altitude on neonates with T21..
MeSH term(s)	Infant, Newborn ; Pregnancy ; Female ; Humans ; United States ; Down Syndrome/complications ; Altitude ; Retrospective Studies ; Hospitals ; Logistic Models
Language	English
Publishing date	2021-10-21
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	605671-4
ISSN	1098-8785 ; 0735-1631
ISSN (online)	1098-8785
ISSN	0735-1631
DOI	10.1055/s-0041-1736594
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Article ; Online: Diffuse alveolar hemorrhage in children with trisomy 21.

Bloom, Jessica L / Frank, Benjamin / Weinman, Jason P / Galambos, Csaba / O'Leary, Sean T / Liptzin, Deborah R / Fuhlbrigge, Robert C

Pediatric rheumatology online journal

2021 Volume 19, Issue 1, Page(s) 114

Abstract: Background: Respiratory conditions are the leading cause of hospitalization and death in children with Trisomy 21 (T21). Diffuse alveolar hemorrhage (DAH) occurs at higher frequency in children with T21; yet, it is not widely studied nor is there a ... ...

Abstract	Background: Respiratory conditions are the leading cause of hospitalization and death in children with Trisomy 21 (T21). Diffuse alveolar hemorrhage (DAH) occurs at higher frequency in children with T21; yet, it is not widely studied nor is there a standardized approach to diagnosis or management. The objective of this study was to identify children with T21 and DAH in order to understand contributing factors and identify opportunities to improve outcomes. We identified 5 children with T21 at a single institution with histology-proven DAH over 10 years and discuss their presentation, evaluation, management, and outcomes. We also reviewed the cases in the literature. Case presentation: Patient 1 died at age seven due to secondary hemophagocytic lymphohistiocytosis. DAH was seen on autopsy. Patient 2 was a three-year-old with systemic-onset juvenile idiopathic arthritis diagnosed with DAH after presenting for hypoxia. Patient 3 was diagnosed with DAH at age nine after presenting with recurrent suspected pneumonia and aspiration. Patient 4 was diagnosed with DAH at age eight after presenting with pallor and fatigue. She had additional ICU admissions for DAH with infections. Patient 5 developed hemoptysis at age three and had recurrent DAH for 10 years. Four patients responded positively to immune-modulation such as intravenous immunoglobulin, glucocorticoids, and rituximab. Of the 19 patients identified in the literature, only one was from the United States. The majority had anemia, respiratory distress, autoantibodies, and recurrences. Very few patients had hemoptysis. Idiopathic pulmonary hemosiderosis was the most common diagnosis. Almost all received glucocorticoids with or without additional immunosuppression. The majority of our patients and those in the literature had positive auto-antibodies such as anti-neutrophil cytoplasmic antibodies and anti-nuclear antigen antibodies. Diagnostic clues included respiratory distress, hypoxia, anemia, recurrent pneumonia, and/or ground glass opacities on imaging. We identified four contributors to DAH: structural lung abnormalities, pulmonary arterial hypertension, infection/aspiration, and autoimmune disease/immune dysregulation. Conclusion: These cases demonstrate the need for an increased index of suspicion for DAH in children with T21, particularly given the low frequency of hemoptysis at presentation, enrich the understanding of risk factors, and highlight the favorable response to immunosuppressive therapies in this vulnerable population.
MeSH term(s)	Child ; Child, Preschool ; Down Syndrome/complications ; Female ; Hemorrhage/etiology ; Humans ; Lung Diseases/etiology ; Male ; Pulmonary Alveoli
Language	English
Publishing date	2021-07-17
Publishing country	England
Document type	Case Reports ; Journal Article ; Review
ZDB-ID	2279468-2
ISSN	1546-0096 ; 1546-0096
ISSN (online)	1546-0096
ISSN	1546-0096
DOI	10.1186/s12969-021-00592-4
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Article ; Online: The immune system, the skin, and childhood rheumatic disease.

Fuhlbrigge, Robert C / Chaiban, Rafka

Current rheumatology reports

2011 Volume 13, Issue 2, Page(s) 103–109

Abstract: As the body's largest organ and first line of defense against the environment, the skin plays a vital role in host immune defense. In addition to its function as a physical barrier, the skin contains an active immune surveillance network and can mount ... ...

Abstract	As the body's largest organ and first line of defense against the environment, the skin plays a vital role in host immune defense. In addition to its function as a physical barrier, the skin contains an active immune surveillance network and can mount highly specific responses to eliminate invading organisms. In this review, we discuss the functions of adhesion molecules in regulating the recruitment of distinct cell populations to skin in both healthy and disease states, and the interaction between innate and adaptive immune mechanisms active in the skin. We also review how these systems underlie the pathogenesis of skin manifestations of pediatric rheumatologic diseases.
MeSH term(s)	Adolescent ; B-Lymphocytes/cytology ; B-Lymphocytes/immunology ; Cell Movement/immunology ; Child ; Humans ; Immune System/immunology ; Immunologic Surveillance/immunology ; Langerhans Cells/immunology ; Rheumatic Diseases/immunology ; Skin/immunology ; T-Lymphocytes/cytology ; T-Lymphocytes/immunology
Language	English
Publishing date	2011-01-14
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	2057357-1
ISSN	1534-6307 ; 1523-3774
ISSN (online)	1534-6307
ISSN	1523-3774
DOI	10.1007/s11926-010-0158-2
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