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Background: Many children with rheumatic and musculoskeletal diseases are unrecognized. Identifying these children requires health care provider awareness, knowledge, and skills to recognize disease features and how (and when) to refer to specialist care. The aim of this paper is to highlight the need for better access to health care, review the essential role that education and virtual care play to address unmet need in low resource areas and especially to expand workforce capacity. Using collaborative partnerships, virtual platforms, and innovative assessment methods, musculoskeletal care and education can be delivered to reach a greater audience than ever before. Increased awareness through multiple initiatives and readily available resources are imperative to improve global rheumatology care. Conclusion: The needs of children with rheumatic diseases and musculoskeletal conditions are vastly underserved around the world resulting in preventable morbidity and mortality. Expanded implementation of virtual education and e-health care platforms provides an opportunity to increase access to care for children globally. [ABSTRACT FROM AUTHOR]

Juvenile idiopathic arthritis (JIA) is the most prevalent chronic rheumatic disease in children and young people (CYP) and a major cause of pain and disability. The vast majority of the world's children and their families live in less resourced countries (LRCs) and face significant socioeconomic and healthcare challenges. Current recommendations for standards of care and treatment for children with JIA do not consider children living in less resourced countries. In order to develop appropriate recommendations for the care of CYP with JIA in less resourced countries a meeting of experienced pediatric rheumatologists from less resourced countries was convened with additional input from a steering group of international pediatric rheumatologists with experience in developing recommendations and standards of care for JIA. Following a needs assessment survey of healthcare workers caring for CYP with JIA in LRC, a literature review was carried out and management recommendations formulated using Delphi technique and a final consensus conference. Responses from the needs assessment were received from 121/483 (25%) practitioners from 25/49 (51%) less resourced countries. From these responses, the initial 84 recommendations were refined and expanded through a series of 3 online Delphi rounds. A final list of 90 recommendations was proposed for evaluation. Evidence for each statement was reviewed, graded, and presented to the consensus group. The degree of consensus, level of agreement, and level of evidence for these recommendations are reported. Recommendations arrived at by consensus for CYP with JIA in less resourced countries cover 5 themes: (1) diagnosis, (2) referral and monitoring, (3) education and training, (4) advocacy and networks, and (5) research. Thirty-five statements were drafted. All but one statement achieved 100% consensus. The body of published evidence was small and the quality of evidence available for critical appraisal was low. Our recommendations offer novel insights and present consensus-based strategies for the management of JIA in less resourced countries. The emphasis on communicable and endemic diseases influencing the diagnosis and treatment of JIA serves as a valuable addition to existing JIA guidelines. With increasing globalization, these recommendations as a whole provide educational and clinical utility for clinicians worldwide. The low evidence base for our recommendations reflects a shortage of research specific to less resourced countries and serves as an impetus for further inquiry towards optimizing care for children with JIA around the world. [ABSTRACT FROM AUTHOR]

Background: Health-Related Quality of Life (HRQoL) data together with clinical findings allow for monitoring of intervention efficacy and the effect on HRQoL. Children with Juvenile Idiopathic Arthritis (JIA) experience symptoms often persisting into adulthood, emphasising the need to track HRQoL. Objectives: The aim of this study was to investigate psychometric properties of the EuroQol five-dimensional youth questionnaire (EQ-5D-Y) in children with JIA. Methods: A cross-sectional, analytical study design was used. Children 8 to 15 years were recruited, completing the self-report EQ-5D-Y and two other HRQoL questionnaires. Known group validity was established by comparing the effect size between children with different disease severities. Concurrent validity was tested using Kruskal–Wallis to compare the ranking of scores on different questionnaires. Feasibility was assessed by number of missing responses and time to complete each questionnaire. Results: All questionnaires were able to distinguish between children with different JIA severity. There was a significant difference in ranking of most Juvenile Arthritis Multidimensional Assessment Report dimension scores across EQ-5D-Y levels, (p < 0.05), indicating concurrent validity. There was poor concurrent validity with the PedsQL dimensions tested with EQ-5D-Y, except for 'pain' (p = 0.001). The EQ-5D-Y was the quickest to complete with no missing values. Conclusion: This study showed that the EQ-5D-Y is valid and feasible in measuring HRQoL in JIA children and adequately responsive to detect change over time. Clinical implications: It is quick and easy to use in a busy clinical setting, allowing for effective JIA management monitoring. [ABSTRACT FROM AUTHOR]

There is increasing concern about the emerging global non-communicable diseases (NCDs) burden. The focus has mainly been on NCDs in adults but it is important that MSK morbidity in both children and adults is included in strategic planning. There have been considerable advances in the understanding and treatment options for children and young people (CYP) and clinical outcomes are improving for those who can access such high quality care. However vast inequity exists and there are many CYP who live in areas of the world with high burden of health care challenges, compounded by paucity of specialist care and limited access to treatments. The Paediatric Global Musculoskeletal Task Force aims to raise awareness about unmet needs for CYP with MSK conditions, promotion of MSK health through lifestyle and the avoidance of injury. We aim to leverage change through 'working together better'. [ABSTRACT FROM AUTHOR]

The Juvenile Arthritis Multidimensional Assessment Report (JAMAR) is a new parent/patient reported outcome measure that enables a thorough assessment of the disease status in children with juvenile idiopathic arthritis (JIA). We report the results of the cross-cultural adaptation and validation of the parent and patient versions of the JAMAR in the Afrikaans language. The reading comprehension of the questionnaire was tested in ten JIA parents and patients. Each participating centre was asked to collect demographic, clinical data and the JAMAR in 100 consecutive JIA patients or all consecutive patients seen in a 6-month period and to administer the JAMAR to 100 healthy children and their parents. The statistical validation phase explored descriptive statistics and the psychometric issues of the JAMAR: the three Likert assumptions, floor/ceiling effects, internal consistency, Cronbach’s alpha, interscale correlations, test-retest reliability, and construct validity (convergent and discriminant validity). A total of 91 JIA patients (4.4% systemic JIA, 35.1% oligoarticular, 23.1% RF negative polyarthritis, 37.4% other categories), and 98 healthy children were enrolled in one paediatric rheumatology centre. The JAMAR components discriminated well healthy subjects from JIA patients. All JAMAR components revealed satisfactory psychometric performances. In conclusion, the Afrikaans version of the JAMAR is a valid tool for the assessment of children with JIA and is suitable for use both in routine clinical practice and in clinical research. [ABSTRACT FROM AUTHOR]

While looking for one, you may find another: Tin Soldiers and the search for undiagnosed individuals with Fibrodysplasia Ossificans Progressiva (FOP) Background FOP is an ultra-rare condition where heterozygous, gain-of-function missense mutations in the ACVR1 gene result in progressive heterotopic bone formation in ligaments, tendons and muscles and result in severe disability.1 FOP has an estimated incidence of 0.6–1.3 per million individuals 2,3 suggesting that currently there are ∼8000 patients living with FOP worldwide, however only about 900 patients are currently diagnosed worldwide The diagnosis is made clinically by identification of typical malformations of the great toes as well as inflammatory swellings (flare-ups) that result in progressive and episodic ossification of soft connective tissues, often triggered by trauma.4 Muscle biopsies, though contraindicated, are frequently performed mistakenly during the course of diagnosis, as FOP is not a well-known condition. There is an urgent need to identify individuals with FOP across the globe in order to avoid harmful biopsies and to provide a pathway to care for patients with FOP. Tin Soldiers is a global FOP patient search program utilizing multimedia campaigns aimed at educating and bringing attention to FOP, to find individuals across the globe and to connect them to pathways of care. The mission is to identify every person with FOP who is currently undiagnosed, as well as to deliver education and support to those living with a diagnosis, but not connected to support networks. Once found, all people living with FOP are connected to pathways to care. The aim is to describe the Tin Soldiers global FOP patient search program approach and report early results of the program. Methods Tin Soldiers creates multimedia campaigns to create awareness and to educate medical professionals, healthcare workers, general public and local communities on FOP. At the heart of the communication program is story-telling of people living with FOP, from a feature-length documentary to public service announcements, animated short films and an 8-part Global Master Series—all designed to bring attention to FOP in order to find patients and provide a pathway to diagnosis and care. Importantly diagnosis is not the end of the journey, it's just the beginning. Results Since official operations commenced in March 2020, Tin Soldiers has trained 535 medical professionals; established an African Clinicians Council of 10 doctors with the intention of mentoring others across the continent; increased the number of African patients with a diagnosis from 25 patients in December 2020–32 in April 2021. Connected previously diagnosed (but not connected) patients to a robust support network and held the first African FOP Family Gathering with clinicians from both South Africa and Nigeria. On the journey, patients with other conditions have been discovered including Juvenile Idiopathic Arthritis (JIA), Progressive Osseus Heteroplasia (POH) and Multiple Osteochondromas (MO). These patients have been diagnosed and connected to both medical care and patient support. Another important outcome is the continued education of doctors globally with the uptake of the CME Master Series in Russia and planned rollouts in Algeria, Nigeria, Kenya, Namibia, Sweden (in partnership with the national patient organization) and Brazil (under the First Lady's patronage). Conclusion Tin Soldiers offers an innovative model of patient identification, diagnosis, support and education at all levels of care, using the power of story-telling and multi-media marketing. Such a model could be considered for raising the profile of other musculoskeletal or rare conditions and connecting patients to a functioning pathway to care. [ABSTRACT FROM AUTHOR]

Background: Systemic lupus erythematosus (SLE) is a life-threatening, chronic, autoimmune disease requiring long term subspecialty care due to its complex and chronic nature. Childhood-onset SLE (cSLE) is more severe than adult-onset, and the cSLE population in South Africa has been reported to have an even higher risk than patients elsewhere. Therefore, it is critical to promptly diagnose, treat, and manage cSLE. In this paper, we aim to describe and evaluate barriers and enablers of appropriate long-term care of cSLE South Africa from the perspective of caregivers (parents or family members). Methods: Caregivers (n = 22) were recruited through pediatric and adult rheumatology clinics. Individuals were eligible if they cared for youth (≤ 19 years) who were diagnosed with cSLE and satisfied at least four of the eleven ACR SLE classification criteria. Individual in-depth, semi-structured interviews were conducted between January 2014 and December 2014, and explored barriers to and facilitators of ongoing chronic care for cSLE. Data were analyzed using applied thematic analysis. Results: Four barriers to chronic care engagement and retention were identified: knowledge gap, financial burdens, social stigma of SLE, and complexity of the South African medical system. Additionally, we found three facilitators: patient and caregiver education, robust support system for the caregiver, and financial support for the caregiver and patient. Conclusion: These findings highlight multiple, intersecting barriers to routine longitudinal care for cSLE in South Africa and suggest there might be a group of diagnosed children who don't receive follow-up care and are subject to loss to follow-up. cSLE requires ongoing treatment and care; thus, the different barriers may interact and compound over time with each follow-up visit. South African cSLE patients are at high risk for poor outcomes. South African care teams should work to overcome these barriers and place attention on the facilitators to improve care retention for these patients and create a model for other less resourced settings. [ABSTRACT FROM AUTHOR]

The World Health Organization (WHO) Essential Medicines List (EML) informs policy makers about which medications should be prioritized and is particularly important for countries with limited resources. However, the EML lacks vital medicines used in paediatric rheumatology, the inclusion of which could transform the lives of many children around the world. [ABSTRACT FROM AUTHOR]

Background: Fibrodysplasia ossificans progressiva (FOP) is an ultrarare genetic disorder with episodic and progressive heterotopic ossification. Tissue trauma is a major risk factor for flareups, heterotopic ossification (HO), and loss of mobility in patients with FOP. The International Clinical Council on FOP generally recommends avoiding surgery in patients with FOP unless the situation is life-threatening, because soft tissue injury can trigger an FOP flareup. Surprisingly little is known about flareups, HO formation, and loss of mobility after fractures of the normotopic (occurring in the normal place, distinct from heterotopic) skeleton when treated nonoperatively in patients with FOP. Questions/purposes: (1) What proportion of fractures had radiographic evidence of union (defined as radiographic evidence of healing at 6 weeks) or nonunion (defined as the radiographic absence of a bridging callus at 3 years after the fracture)? (2) What proportion of patients had clinical symptoms of an FOP flareup because of the fracture (defined by increased pain or swelling at the fracture site within several days after closed immobilization)? (3) What proportion of patients with fractures had radiographic evidence of HO? (4) What proportion of patients lost movement after a fracture. Methods: We retrospectively identified 36 patients with FOP from five continents who sustained 48 fractures of the normotopic skeleton from January 2001 to February 2021, who were treated nonoperatively, and who were followed for a minimum of 18 months after the fracture and for as long as 20 years, depending on when they sustained their fracture during the study period. Five patients (seven fractures) were excluded from the analysis to minimize cotreatment bias because these patients were enrolled in palovarotene clinical trials (NCT02190747 and NCT03312634) at the time of their fractures. Thus, we analyzed 31 patients (13 male, 18 female, median age 22 years, range 5 to 57 years) who sustained 41 fractures of the normotopic skeleton that were treated nonoperatively. Patients were analyzed at a median follow-up of 6 years (range 18 months to 20 years), and none was lost to follow-up. Clinical records for each patient were reviewed by the referring physician-author and the following data for each fracture were recorded: biological sex, ACVR1 gene pathogenic variant, age at the time of fracture, fracture mechanism, fracture location, initial treatment modality, prednisone use at the time of the fracture as indicated in the FOP Treatment Guidelines for flare prevention (2 mg/kg once daily for 4 days), patient-reported flareups (episodic inflammatory lesions of muscle and deep soft connective tissue characterized variably by swelling, escalating pain, stiffness, and immobility) after the fracture, follow-up radiographs of the fracture if available, HO formation (yes or no) as a result of the fracture determined at a minimum of 6 weeks after the fracture, and patient-reported loss of motion at least 6 months after and as long as 20 years after the fracture. Postfracture radiographs were available in 76% (31 of 41) of fractures in 25 patients and were independently reviewed by the referring physician-author and senior author for radiographic criteria of fracture healing and HO. Results: Radiographic healing was noted in 97% (30 of 31) of fractures at 6 weeks after the incident fracture. Painless nonunion was noted in one patient who sustained a displaced patellar fracture and HO. In seven percent (three of 41) of fractures, patients reported increased pain or swelling at or near the fracture site within several days after fracture immobilization that likely indicated a site-specific FOP flareup. The same three patients reported a residual loss of motion 1 year after the fracture compared with their prefracture status. HO developed in 10% (three of 31) of the fractures for which follow-up radiographs were available. Patient-reported loss of motion occurred in 10% (four of 41) of fractures. Two of the four patients reported noticeable loss of motion and the other two patients reported that the joint was completely immobile (ankylosis). Conclusion: Most fractures treated nonoperatively in individuals with FOP healed with few flareups, little or no HO, and preservation of mobility, suggesting an uncoupling of fracture repair and HO, which are two inflammation-induced processes of endochondral ossification. These findings underscore the importance of considering nonoperative treatment for fractures in individuals with FOP. Physicians who treat fractures in patients with FOP should consult with a member of the International Clinical Council listed in the FOP Treatment Guidelines (https://www.iccfop.org). [ABSTRACT FROM AUTHOR]

An abstract of the conference paper "FOP in South Africa: awareness leads to diagnosis," by Christiaan Scott is presented.

An abstract of the conference paper "MyastheniaGravis(MG) in a patient with Juvenile Idiopathic Arthritis," by Christiaan Scott, and Asgar Kalla, is presented.

Fibrodysplasia ossificans progressiva (FOP) is a rare and devastating genetic disease, in which soft connective tissue is converted into heterotopic bone through an endochondral ossification process. Patients succumb early as they gradually become trapped in a second skeleton of heterotopic bone. Although the underlying genetic defect is long known, the inherent complexity of the disease has hindered the discovery of effective preventions and treatments. New developments in the gene therapy field have motivated its consideration as an attractive therapeutic option for FOP. However, the immune system's role in FOP activation and the as-yet unknown primary causative cell, are crucial issues which must be taken into account in the therapy design. While gene therapy offers a potential therapeutic solution, more knowledge about FOP is needed to enable its optimal and safe application. [ABSTRACT FROM AUTHOR]

Multisystem inflammatory syndrome in children (MIS-C) is a severe, hyperinflammatory disease that occurs after exposure to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). The underlying immune pathology of MIS-C is incompletely understood, with limited data comparing MIS-C to clinically similar paediatric febrile diseases at presentation. SARS-CoV-2-specific T cell responses have not been compared in these groups to assess whether there is a T cell profile unique to MIS-C. In this study, we measured inflammatory cytokine concentration and SARS-CoV-2-specific humoral immunity and T cell responses in children with fever and suspected MIS-C at presentation (n = 83) where MIS-C was ultimately confirmed (n = 58) or another diagnosis was made (n = 25) and healthy children (n = 91). Children with confirmed MIS-C exhibited distinctly elevated serum IL-10, IL-6, and CRP at presentation. No differences were detected in SARS-CoV-2 spike IgG serum concentration, neutralisation capacity, antibody dependant cellular phagocytosis, antibody dependant cellular cytotoxicity or SARS-CoV-2-specific T cell frequency between the groups. Healthy SARS-CoV-2 seropositive children had a higher proportion of polyfunctional SARS-CoV-2-specific CD4+ T cells compared to children with MIS-C and those with other inflammatory or infectious diagnoses, who both presented a largely monofunctional SARS-CoV-2-specific CD4+ T cell profile. Treatment with steroids and/or intravenous immunoglobulins resulted in rapid reduction of inflammatory cytokines but did not affect the SARS-CoV-2-specific IgG or CD4+ T cell responses in MIS-C. In these data, MIS-C had a unique cytokine profile but not a unique SARS-CoV-2 specific humoral or T cell cytokine response. [Display omitted] • Children with MIS-C have a distinct inflammatory cytokine profile. • The titres and functions of SARS-CoV-2 antibodies are not unique in children with MIS-C. • Children with MIS-C have a monofunctional SARS-CoV-2 specific T cell response. [ABSTRACT FROM AUTHOR]

The article discusses frontiers, challenges, and opportunities in global rheumatology research. Topics include World Health Organization (WHO) considers musculoskeletal conditions to be the leading causes of disability worldwide, and the greatest independent contributors to chronic pain; and low-resource settings rheumatology remains underdeveloped with regard to health care access, clinical practice, education, training, and research.

Van Brusselen D, Janssen CEI, Scott C, Bevers N, Roskams T, Wouters C, Van Damme-Lombaerts R. Budd-Chiari syndrome as presenting symptom of hepatic sarcoidosis in a child, with recurrence after liver transplantation. Pediatr Transplantation 2012: 16: E58-E62. © 2011 John Wiley & Sons A/S. Abstract: A seven-yr-old boy presented with a severe Budd-Chiari syndrome, complicated by recurrent thrombosis of several successive TIPSs. Because of liver failure secondary to venous outflow tract obstruction and deterioration of his general condition, an emergency liver transplantation was performed. Steroids were discontinued three months after transplantation, and maintenance immunosuppressive therapy consisted of tacrolimus and azathioprine. Seven years later, this patient presented symptoms of recurrence of venous outflow obstruction in the transplant liver, comparable to the initial event. Histopathology of the liver revealed diffuse granulomatous inflammation with confluent non-caseating granulomas compressing the centrolobular veins. Extensive investigations excluded infections, immune deficiency, and systemic vasculitides. After treatment with a high dose of corticosteroids, the granulomas in the allograft disappeared completely. We report the first case of hepatic sarcoidosis, presenting with venous outflow obstruction and recurring after liver transplantation, in a child. [ABSTRACT FROM AUTHOR]

Background: Juvenile idiopathic arthritis (JIA) is a disease that shows wide variations between differing populations. Since the recent international consensus on classification criteria, JIA has been widely described in many countries and population groups. There has been almost no data that describes JIA in an African, specifically Sub-Saharan African, setting. Therefore, the aim of this study is to describe disease characteristics, disease course, and functional disability in two tertiary centres in the Western Cape, South Africa and compare the findings to other JIA populations. Methods: Eighty-six children were recruited during random clinic visits to rheumatology clinics at Tygerberg and Groote Schuur Hospital between April 2010 and April 2011. Children were diagnosed using International League of Associations for Rheumatology (ILAR) 2001 classification criteria. Consent was obtained and medical records examined. The Childhood Health Assessment Questionnaires (CHAQ) and visual analogue scales (VAS) for pain and general well-being were completed and all children were examined by a researcher in conjunction with a paediatric rheumatologist. HIV status as well as tuberculosis disease and treatment were investigated. Results: A total of 86 children were enrolled. Eight children were excluded (2 HIV arthropathy, 1 TB arthritis, 1 SLE, 4 with insufficient data), leaving a total of 78 patients. There was an equal female to male ratio-39 males and 39 females. There were 6 systemic JIA patients (7.69%), 17 persistent oligoarthritis (21.79%), 4 extended oligoarthritis (5.12%), 11 polyarthritis rheumatoid factor (RF) positive (14.10%), 21 polyarthritis RF negative (26.9%), 1 psoriaticarthritis (1.28%), and 18 enthesitis-related arthritis (23%). The median CHAQ for the group was 0.5 (IQR 0.1-1.25), the median VAS for pain was 18 mm (IQR 4-42) and median VAS for general well-being was 25 mm (IQR 3-49). Enthesitis-related arthritis and polyarthritis disease subtypes in this South African population may be more common than seen in JIA populations described in northern Europe, India, United Kingdom, and Turkey. Conclusion: This Western Cape South African JIA population appears to have a different profile of JIA than what has been described elsewhere. Enthesitis-related arthritis and polyarthritis disease subtypes appear to be more prevalent. There are also significant challenges in this setting such as later presentation to pediatricrheumatologists, different disease characteristics, and variable disease courses. [ABSTRACT FROM AUTHOR]

Objectives To assess efficacy, pharmacokinetics (PK) and safety of intravenous (i.v.) golimumab in patients with polyarticular-course JIA (pc-JIA). Methods Children aged 2 to <18 years with active pc-JIA despite MTX therapy for ≥2 months received 80 mg/m2 golimumab at weeks 0, 4, then every 8 weeks through week 52 plus MTX weekly through week 28. The primary and major secondary endpoints were PK exposure and model-predicted steady-state area under the curve (AUCss) over an 8-week dosing interval at weeks 28 and 52, respectively. JIA ACR response and safety were also assessed. Results In total, 127 children were treated with i.v. golimumab. JIA ACR 30, 50, 70, and 90 response rates were 84%, 80%, 70% and 47%, respectively, at week 28 and were maintained through week 52. Golimumab serum concentrations and AUCss were 0.40 µg/ml and 399 µg ⋅ day/ml at week 28. PK exposure was maintained at week 52. Steady-state trough golimumab concentrations and AUCss were consistent across age categories and comparable to i.v. golimumab dosed 2 mg/kg in adults with rheumatoid arthritis. Golimumab antibodies and neutralizing antibodies were detected via a highly sensitive drug-tolerant assay in 31% (39/125) and 19% (24/125) of patients, respectively. Median trough golimumab concentration was lower in antibody-positive vs antibody-negative patients. Serious infections were reported in 6% of patients, including one death due to septic shock. Conclusion Body surface area-based dosing of i.v. golimumab was well tolerated and provided adequate PK exposure for clinical efficacy in paediatric patients with active pc-JIA. ClinicalTrials.gov number NCT02277444 [ABSTRACT FROM AUTHOR]

Background It is estimated that millions of children in Africa suffer from pediatric rheumatic diseases (PRD). Despite this, as of 2021, there were just 28 pediatric rheumatologists in only 10 of the 54 African countries. With ∼700 million children living in Africa, this number falls far short of the recommended minimum 1750 pediatric rheumatologists needed for ideal care. Rheumatic and musculoskeletal diseases are the second leading cause of disability globally. However, there is a paucity of data on PRD in low and middle-income countries (LMIC) due to limited diagnostic capacities, scarcity of pediatric rheumatologists, and limited awareness of PRD. We have much to learn about the prevalence of PRD as well as clinical manifestations, optimal treatments, and outcomes in African children with PRD. Juvenile dermatomyositis (JDM) can cause significant morbidity and irreversible damage when inadequately treated, resulting in medical, social, and economic burden on patients, families, and healthcare systems, particularly in LMIC. The few studies of JDM in Africa suggest high rates of severe manifestations, including calcinosis, vasculitis, and pulmonary involvement. The objective of this survey is to better understand the scope of JDM burden in Africa by obtaining an overview of JDM and comparing this to data in previously published work. Methods A survey was distributed to members of the African League of Associations for Rheumatology (AFLAR; n  = 233) and Paediatric Society of the African League Against Rheumatism (PAFLAR; n  = 130) via WhatsApp groups. Respondents were queried about the total number of JDM patients seen currently or within the last 10 years; morbidities and clinical outcomes, including calcinosis, interstitial lung disease (ILD), clinically inactive disease, remission, and death; and availability and accessibility of diagnostic tools and medications. Results A total of 43 (12%) individuals started the survey, with 4 (9%) partially and 16 (37%) fully completing it, describing 216 JDM patients. One general pediatrician participated; the remainder were adult (n  = 10; 50%), pediatric (n  = 7; 35%), or adult/pediatric (n  = 2; 10%) rheumatologists. Respondents represented the 5 regions of Africa, primarily Northern Africa (n  = 12; 60%). Mortality was reported at 14% and 29% in Kenya and Zambia, respectively (Table 1). Many respondents identified limited availability of medications (56%), unfamiliarity with JDM by caregivers (69%) and other medical providers (44%), and delayed presentation to care (75%). Access and/or cost limited use of diagnostic tools and medications. Of the 27 queried diagnostic tools and medications, 13 were reported to be accessible to only 50% or fewer of respondents, the majority (69%) of whom were from Northern or Southern African countries. Despite the lack of cost or other apparent access barriers, disease assessment tools are used by only 53% of respondents. E33 Table 1. Clinical outcomes in children with juvenile dermatomyositis in Africa among survey respondents (n  = 20) Country (Number of Respondents).  Total Patients (n = 216) c.  Clinically Inactive Disease a.  Remission b.  Calcinosis.  Interstitial Lung Disease.  Deaths.  Northern Africa (12) Egypt (6)   68 c   28  13  36  5  2  Libya (3)   55 c   18 e   39 e   12  5 e   3  Morocco (1)   19  6 (31.6%)  4 (21.1%)  7 (36.8%)  6 (31.6%)  0 (0%)  Tunisia (2)   3 c   6  6  0  4  0 e   Eastern Africa (3) Kenya (2)   42  15 (35.7%)  12 (28.6%)  13 (31.0%)  8 (19.0%)  6 (14.3%)  Zambia (1)   7  5 (71.4%)  0 (0%)  3 (42.9%)  1 (14.3%)  2 (28.6%)  Central Africa (3) Cameroon (2) d   11  6 (54.5%)  5 (45.5%)  3 (27.3%)  2 (18.2%)  0 (0%)  Democratic Republic of the Congo (1) d   3  3 (100%)  1 (33.3%)  3 (100%)  0 (0%)  e   Western Africa (1) Nigeria (1)   4  2 (50.0%)  1 (25.0%)  0 (0%)  1 (25.0%)  0 (0%)  Southern Africa (1) South Africa (1)   4  1 (25.0%)  1 (25.0%)  2 (50.0%)  0 (0%)  0 (0%)  Country (Number of Respondents).  Total Patients (n = 216) c.  Clinically Inactive Disease a.  Remission b.  Calcinosis.  Interstitial Lung Disease.  Deaths.  Northern Africa (12) Egypt (6)   68 c   28  13  36  5  2  Libya (3)   55 c   18 e   39 e   12  5 e   3  Morocco (1)   19  6 (31.6%)  4 (21.1%)  7 (36.8%)  6 (31.6%)  0 (0%)  Tunisia (2)   3 c   6  6  0  4  0 e   Eastern Africa (3) Kenya (2)   42  15 (35.7%)  12 (28.6%)  13 (31.0%)  8 (19.0%)  6 (14.3%)  Zambia (1)   7  5 (71.4%)  0 (0%)  3 (42.9%)  1 (14.3%)  2 (28.6%)  Central Africa (3) Cameroon (2) d   11  6 (54.5%)  5 (45.5%)  3 (27.3%)  2 (18.2%)  0 (0%)  Democratic Republic of the Congo (1) d   3  3 (100%)  1 (33.3%)  3 (100%)  0 (0%)  e   Western Africa (1) Nigeria (1)   4  2 (50.0%)  1 (25.0%)  0 (0%)  1 (25.0%)  0 (0%)  Southern Africa (1) South Africa (1)   4  1 (25.0%)  1 (25.0%)  2 (50.0%)  0 (0%)  0 (0%)  Number of patients reported as n; (%) also reported when total patient's known. a Defined as lack of evidence of myositis disease activity as assessed by global and extra-muscular assessments, stable muscle strength and function, and normal muscle enzyme levels, per the International Myositis Assessment & Clinical Studies (IMACS) criteria for lack of evidence of active myositis. b Defined according to the IMACS 2005 definition: clinically inactive disease while not receiving any drug therapy for a 6-month continuous period. c At least 1 respondent unsure of total number of patients, therefore number provided is an underestimation and percentages were unable to be calculated; Egypt = 3 of 6 respondents unsure about prior patients, Libya = 1 of 3 respondents unsure about total current and total prior patients, Tunisia = 2 of 2 respondents unsure about total current patients and 1 of 2 unsure about prior patients. d Respondents answered questions only about current, not prior, patients (Cameroo n  = 1 respondent, Democratic Republic of Congo = 1 respondent). e Response missing from 1 respondent. Open in new tab E33 Table 1. Clinical outcomes in children with juvenile dermatomyositis in Africa among survey respondents (n  = 20) Country (Number of Respondents).  Total Patients (n = 216) c.  Clinically Inactive Disease a.  Remission b.  Calcinosis.  Interstitial Lung Disease.  Deaths.  Northern Africa (12) Egypt (6)   68 c   28  13  36  5  2  Libya (3)   55 c   18 e   39 e   12  5 e   3  Morocco (1)   19  6 (31.6%)  4 (21.1%)  7 (36.8%)  6 (31.6%)  0 (0%)  Tunisia (2)   3 c   6  6  0  4  0 e   Eastern Africa (3) Kenya (2)   42  15 (35.7%)  12 (28.6%)  13 (31.0%)  8 (19.0%)  6 (14.3%)  Zambia (1)   7  5 (71.4%)  0 (0%)  3 (42.9%)  1 (14.3%)  2 (28.6%)  Central Africa (3) Cameroon (2) d   11  6 (54.5%)  5 (45.5%)  3 (27.3%)  2 (18.2%)  0 (0%)  Democratic Republic of the Congo (1) d   3  3 (100%)  1 (33.3%)  3 (100%)  0 (0%)  e   Western Africa (1) Nigeria (1)   4  2 (50.0%)  1 (25.0%)  0 (0%)  1 (25.0%)  0 (0%)  Southern Africa (1) South Africa (1)   4  1 (25.0%)  1 (25.0%)  2 (50.0%)  0 (0%)  0 (0%)  Country (Number of Respondents).  Total Patients (n = 216) c.  Clinically Inactive Disease a.  Remission b.  Calcinosis.  Interstitial Lung Disease.  Deaths.  Northern Africa (12) Egypt (6)   68 c   28  13  36  5  2  Libya (3)   55 c   18 e   39 e   12  5 e   3  Morocco (1)   19  6 (31.6%)  4 (21.1%)  7 (36.8%)  6 (31.6%)  0 (0%)  Tunisia (2)   3 c   6  6  0  4  0 e   Eastern Africa (3) Kenya (2)   42  15 (35.7%)  12 (28.6%)  13 (31.0%)  8 (19.0%)  6 (14.3%)  Zambia (1)   7  5 (71.4%)  0 (0%)  3 (42.9%)  1 (14.3%)  2 (28.6%)  Central Africa (3) Cameroon (2) d   11  6 (54.5%)  5 (45.5%)  3 (27.3%)  2 (18.2%)  0 (0%)  Democratic Republic of the Congo (1) d   3  3 (100%)  1 (33.3%)  3 (100%)  0 (0%)  e   Western Africa (1) Nigeria (1)   4  2 (50.0%)  1 (25.0%)  0 (0%)  1 (25.0%)  0 (0%)  Southern Africa (1) South Africa (1)   4  1 (25.0%)  1 (25.0%)  2 (50.0%)  0 (0%)  0 (0%)  Number of patients reported as n; (%) also reported when total patient's known. a Defined as lack of evidence of myositis disease activity as assessed by global and extra-muscular assessments, stable muscle strength and function, and normal muscle enzyme levels, per the International Myositis Assessment & Clinical Studies (IMACS) criteria for lack of evidence of active myositis. b Defined according to the IMACS 2005 definition: clinically inactive disease while not receiving any drug therapy for a 6-month continuous period. c At least 1 respondent unsure of total number of patients, therefore number provided is an underestimation and percentages were unable to be calculated; Egypt = 3 of 6 respondents unsure about prior patients, Libya = 1 of 3 respondents unsure about total current and total prior patients, Tunisia = 2 of 2 respondents unsure about total current patients and 1 of 2 unsure about prior patients. d Respondents answered questions only about current, not prior, patients (Cameroo n  = 1 respondent, Democratic Republic of Congo = 1 respondent). e Response missing from 1 respondent. Open in new tab Conclusion This is the first study to explore JDM on a broad scale across the African continent. We identified 216 African children with JDM within the past 10 years, exceeding the previously published reports of 196 JDM patients seen in the last 25 years and likely still underestimating prevalence. Our results suggest substantially higher rates of severe disease, with mortality rates in some countries vastly different from the 1–3% reported in high-income countries. Many respondents were limited in their capacity to diagnose and treat JDM, but there was a wide range across African regions that seemed to parallel known disparities in healthcare resource availability in Africa. This survey highlighted important possible differences in disease manifestations and outcomes that warrant further study. Future collaboration with our African colleagues is critical to raise awareness of JDM to ultimately improve disease severity and outcomes. Ethics Institutional review board approval was obtained with waiver of informed consent. [ABSTRACT FROM AUTHOR]

Background: Pediatric Rheumatology is an orphan specialty in Africa which is gradually gaining importance across the continent. Main body: This commentary discusses the current state of affairs in the sphere of Pediatric Rheumatology across Africa and offers practical strategies to navigate the challenges encountered in research, models of care, education and training. We outline the establishment, opportunities of growth and achievements of the Pediatric Society of the African League Against Rheumatism (PAFLAR). Conclusion: This commentary lays the foundation for establishment of a formidable framework and development of partnerships for the prosperity of Pediatric Rheumatology in Africa and beyond. [ABSTRACT FROM AUTHOR]

Background: Non-infectious uveitis is a well-reported cause of blindness in more developed countries, however data from sub-Saharan Africa is lacking. Here we aim to describe the diseases associated with paediatric non-infectious uveitis and the effect of currently available treatment in this setting. Methods: A retrospective observational analysis of children with non-infectious uveitis from January 2010 to December 2017, attending the tertiary paediatric rheumatology and ophthalmology referral units in Cape Town was conducted. Statistical analysis utilising STATA13 software was performed with p < 0.05 considered significant. Results: Twenty-nine children were identified: median age at first visit of 74 months (IQR 49–86 months), female to male ratio of 0.9:1, predominantly of mixed ancestry (72.4%). Juvenile idiopathic arthritis associated uveitis (JIAU) (48.3%), idiopathic uveitis (41.4%), sarcoidosis (6.9%) and Behcet's disease (3.5%) were diagnosed. Chronic anterior uveitis (72.4%) was the most frequent finding. Fifty-five percent had complications at presentation and all children with idiopathic uveitis presented with cataracts. Only 6.5% of the JIA cohort had JIAU. All JIA children had chronic anterior uveitis. There were no differences between JIA children with uveitis and those without uveitis, for sex (p = 0.68) and race (p = 0.58). Significantly, children with uveitis presented at an overall younger age (p = 0.008), had oligo-articular JIA (p = 0.01) and were antinuclear antibody positive (p < 0.001). Children with idiopathic uveitis were predominantly male (66.6%) with chronic anterior uveitis (41.7%). Nineteen children (65.5%) in the cohort had inactive disease on treatment at 12 months from diagnosis, which included 10 on topical corticosteroid therapy. At the last clinical visit 17 (58.6%) on standard initial therapy, 8 (27.6%) on tumour necrosis factor inhibitors and 2 on additional DMARDs were in remission. Five of these children still required topical corticosteroids. Surgery was performed in 41.4%, primarily in the idiopathic group. Visual acuity improved or was maintained on treatment. Conclusion: Current practice seems to detect children with potentially sight-threatening disease but the high rate of complications and the low percentage of children with JIAU raises concerns of delayed healthcare intervention. Tumour necrosis factor inhibitors have improved outcomes in refractory cases in this cohort, however further studies are needed. [ABSTRACT FROM AUTHOR]

Biologic drugs are reshaping clinical practice in various disciplines, even while access to them is imbalanced across global settings. In sub-Saharan Africa, biotherapeutics have potential roles to play in the treatment of a range of conditions that include infectious and noncommunicable diseases (NCDs). However, the literature is scarce on guidance for addressing local access challenges, including technical, regulatory, affordability, and other healthcare delivery aspects. This article aims to assess fundamental determinants of use of biologic medicines in sub-Saharan Africa. The purpose is to inform strategic actions of scientists, physicians, policymakers, and other stakeholders that are working to improve access to innovative therapies in low resource parts of the world. Biotherapeutics have become an essential component of the modern clinical armamentarium due in part to their high specificity and potency, but access to biotherapeutics is currently uneven across global settings. Compared with small molecule drugs, biotherapeutics have unique features that affect the way they are manufactured, supplied, and administered to patients. The disease burden in sub-Saharan Africa includes many communicable and noncommunicable disease indications for which biotherapeutics are already approved or are in clinical development. Technical, regulatory, health system, and economic factors all impact the safe and reliable access to biotherapeutics in sub-Saharan Africa. [ABSTRACT FROM AUTHOR]

Background: Paediatric rheumatic diseases are a leading cause of acquired disability in Southeast Asia and Asia-Pacific Countries (SE ASIA/ASIAPAC). The aims of this study were to identify and describe the challenges to the delivery of patient care and identify solutions to raise awareness about paediatric rheumatic diseases. Methods: The anonymised online survey included 27 items about paediatric rheumatology (PR) clinical care and training programmes. The survey was piloted and then distributed via Survey-Monkey™ between March and July 2019. It was sent to existing group lists of physicians and allied health professionals (AHPs), who were involved in the care pathways and management of children with rheumatic diseases in SE ASIA/ASIAPAC. Results: Of 340 participants from 14 countries, 261 participants had been involved in PR care. The majority of the participants were general paediatricians. The main reported barriers to providing specialised multidisciplinary service were the absence or inadequacy of the provision of specialists and AHPs in addition to financial issues. Access to medicines was variable and financial constraints cited as the major obstacle to accessing biological drugs within clinical settings. The lack of a critical mass of specialist paediatric rheumatologists was the main perceived barrier to PR training. Conclusions: There are multiple challenges to PR services in SE ASIA/ASIAPAC countries. There is need for more specialist multidisciplinary services and greater access to medicines and biological therapies. The lack of specialist paediatric rheumatologists is the main barrier for greater access to PR training. [ABSTRACT FROM AUTHOR]

The article presents a study which determines whether the radiographic features of joint destruction in tophaceous gout (TG) imply a different pathophysiology to rheumatoid arthritis (RA) and psoriatic arthritis (PA). It carries a radiographic comparison of the articular damage in persons with RA, PA, and TG. It suggests that the pathophysiology of joint destruction in TG is different to that in RA and PA.

Clinical trials for orphan diseases are critical for developing effective therapies. One such condition, fibrodysplasia ossificans progressiva (FOP; MIM#135100), is characterized by progressive heterotopic ossification (HO) that leads to severe disability. Individuals with FOP are extremely sensitive to even minor traumatic events. There has been substantial recent interest in clinical trials for novel and urgently‐needed treatments for FOP. The International Clinical Council on FOP (ICC) was established in 2016 to provide consolidated and coordinated advice on the best practices for clinical care and clinical research for individuals who suffer from FOP. The Clinical Trials Committee of the ICC developed a focused list of key considerations that encompass the specific and unique needs of the FOP community – considerations that are endorsed by the entire ICC. These considerations complement established protocols for developing and executing robust clinical trials by providing a foundation for helping to ensure the safety of subjects with FOP in clinical research trials. [ABSTRACT FROM AUTHOR]

Background: Systemic Lupus Erythematosus (SLE) is a serious multisystem autoimmune disease, which is more aggressive in children and people of African descent. In South Africa, pediatric SLE (pSLE) patients are at high risk for severe disease. Similar to pSLE worldwide, South African children and adolescents with SLE require subspecialized medical care. The aim of this study is to describe the care-seeking experiences of families and examine factors that contribute to delays in the diagnosis of pSLE. Specifically, we sought to identify factors to inform interventions that support the timely referral and diagnosis of pediatric SLE patients in South Africa. Methods: In-depth, semi-structured interviews were conducted with 22 caregivers of pSLE patients recruited from two government hospitals in Cape Town, South Africa in 2014. Interviews were audio-recorded, transcribed, and analyzed for themes related to barriers to diagnosis. Results: Six themes were identified and classified as either caregiver or health system barriers to diagnosis. Caregiver barriers included lack of knowledge regarding SLE, financial difficulties, and the social stigma of SLE. Health system barriers were lack of trained staff, a complex medical system, and misdiagnosis. Conclusion: Caregivers reported missed opportunities for diagnosing pSLE in their children. Raising public awareness may improve caregiver awareness and reduce stigma of pSLE. Improving family education at diagnosis holds potential to increase patient-physician trust and mitigate fear. Education modules for primary care providers at initial point of contact with the health care system may improve recognition of early pSLE and facilitate expedited referral to a specialist. [ABSTRACT FROM AUTHOR]

Background: Juvenile dermatomyositis (JDM) is a rare idiopathic inflammatory childhood myopathy of uncertain aetiology. The demographic and clinical presentation of JDM may differ by race and geographic regions. Few studies have described the characteristics of JDM patients from Africa. Methods: We conducted a retrospective observational study to determine clinical characteristics and outcomes of patients satisfying the Bohan and Peter criteria for probable JDM seen between 2004 and 2013 in three hospitals in Cape Town, South Africa. Results: Twenty five cases were identified: 16 female and 9 male; thirteen (52 %) were of indigenous African, eleven (44 %) mixed and one (4 %) European ancestry. The median ages at disease onset and diagnosis were 6.75 (range 2.0-9.7) and 7.9 (range 3.4-9.75) years respectively. Eleven patients had calcinosis while the mortality was 2/ 25 (8 %). Only 40 % of the patients had clinically inactive disease by PRINTO criteria (modified) at last review. There was no statistically significant difference in racial distribution (p-value = 1), age at disease onset (p-value = 0.87) and disease duration prior to treatment initiation (p-value = 0.75) between patients who had clinically active and inactive disease. Conclusion: The demographic characteristics of children with JDM were similar to that from most other regions of the world with female predominance and similar age at onset. Majority of the patients remained with clinically active disease, which put them at risk of further disease complications. Long term follow up and use of appropriate treatment guidelines may be indicated in management of JDM patients for optimum treatment outcomes. [ABSTRACT FROM AUTHOR]

Background: Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare, disabling genetic disorder characterized by congenital malformations of the great toes and progressive heterotopic ossification of soft and connective tissues. Assiduous attention to the unmet needs of this patient community is crucial to prevent potential iatrogenic harm and optimize care for individuals with FOP.Objective: To gather international expert opinion and real-world experience on the key challenges for individuals with FOP and their families, highlight critical gaps in care, communication, and research, and provide recommendations for improvement.Methods: An international group of expert clinicians, patients and patient advocates, caregivers and representatives from the international FOP community participated in a virtual, half-day meeting on 22 March 2021 to discuss the key unmet needs of individuals with FOP.Results: Individuals with FOP often face the frustration of long diagnostic journeys, the burden of self-advocacy and the navigation of novel care pathways. Globally, patients with FOP are also confronted with inequities in access to diagnosis and specialist care, and consequently, unequal access to registries, clinical trials, and essential support from patient associations. Organizations such as the International FOP Association, the International Clinical Council on FOP, and national FOP organizations work to provide information, facilitate access to expert clinical guidance, nurture patient empowerment, fund FOP research and/or foster meaningful collaborations with the research community. The non-profit Tin Soldiers Global FOP Patient Search program aims to identify and provide a pathway to diagnosis and care for individuals with FOP, particularly in underserved communities. Such global initiatives and the increasingly widespread use of telemedicine and digital platforms offer opportunities to improve vital access to care and research.Conclusions: This multi-stakeholder perspective highlights some of the unmet needs of individuals with FOP and their families. Regional and international organizations play an important role in improving the quality of life of those they reach in the global FOP community. However, globally, fundamental issues remain around raising awareness of FOP among healthcare professionals, identifying individuals with FOP, reducing time to diagnosis, and ensuring access to best practice in care, support, and clinical research. Medical writing support was industry-sponsored. [ABSTRACT FROM AUTHOR]

Background Advanced HIV infection is associated with an inflammatory arthritis, however few reports have described this disorder in children. This study aimed to describe the clinical features of HIV arthropathy in a case series of children in South Africa and compare these with features of JIA. Methods Retrospective data were collected from HIV-infected children with HIV arthropathy enrolled in a Paediatric Rheumatology clinic in Cape Town, South Africa. Data from a recently described, published cohort of children with JIA enrolled in the same clinic were included for comparison. Ethical approval was granted by the Human Research Ethics Committee of the University of Cape Town, with a waiver for consent. Results Eleven cases of HIV arthropathy were identified. Cases predominantly affected boys (8/11), and the median age of onset was 10.3 years (IQR 6.9–11.6). Most cases presented in the setting of advanced immunosuppression, with a median absolute CD4+ count of 389 cells/uL (IQR 322–449) and median CD4+ proportion of 19.5% (IQR 14.8–25.0) at presentation. The clinical presentation was variable, with both oligoarthritis (6/11) and polyarthritis (5/11) being prevalent. All cases exhibited large joint involvement, which was usually asymmetrical. In addition, four children had asymmetrical small joint involvement. Associated features included enthesitis (4/11) and dactylitis (1/11). The most consistent laboratory feature was elevated acute phase reactants, and typical ultrasonographic findings were joint effusions and synovial hypertrophy. JIA and HIV arthropathy presented at a similar age, with median age at HIV arthritis onset of 10.3 years (IQR 6.9–11.6) versus 9.25 years (IQR 4.5–12.3) at arthritis onset in the JIA subgroup. HIV arthropathy cases were predominantly male (M/F ratio 3.0), whereas JIA cases had an equal sex distribution (M/F ratio 0.9). Oligo-articular disease was more frequently described in children with HIV arthropathy (55%), compared to those with JIA (38%). Conclusion In this series, most cases of HIV arthropathy exhibited asymmetrical large joint oligoarthritis or polyarthritis, and presented in older boys with advanced immunosuppression. HIV arthropathy appears to present at a similar age to JIA, with a comparable pattern of joint involvement to oligo-articular and poly-articular JIA subtypes. [ABSTRACT FROM AUTHOR]

There is a lack of awareness of paediatric rheumatic diseases (PRDs), among the public, and certain groups of healthcare professionals (HCPs), including general practitioners. To help improve international awareness and understanding of PRDs, World yOung Rheumatic Diseases (WORD) Day was established on 18 March 2019. Its aim was to raise awareness of PRDs and the importance of timely referral plus early diagnosis and access to appropriate treatment and support. A steering committee was established, and an external agency provided digital support. A social media campaign was launched in December 2018 to promote it, and analytics were used to measure its impact. Face-to-face and virtual events took place globally on or around WORD Day 2019, with 34 countries reporting events. Examples included lectures, social gatherings and media appearances. A total of 2585 and 660 individuals followed the official Facebook and Twitter accounts respectively, up until WORD Day. The official #WORDDay2019 hashtag was seen by 533,955 unique accounts on 18 March 2019 alone, with 3.3 million impressions. WORD Day 2019 was the first international campaign focused solely on PRDs. It demonstrated that despite awareness events being often resource-light, they can be implemented across a range of diverse settings. WORD Day has now become an annual global awareness event, facilitated by a growing network of patient, parent and professional community supporters. [ABSTRACT FROM AUTHOR]

A global, patient-reported registry has been established to characterize the course of disease and track clinical outcomes in patients with fibrodysplasia ossificans progressiva (FOP), an ultra-rare genetic condition of progressive heterotopic ossification (HO) that results in ankylosis of joints and renders most affected individuals immobile by the second decade of life. Here, we present baseline phenotypes on 299 patients (median age 21 years; range 0.1 to 78 years) from 54 countries based on aggregate data from the International FOP Association (IFOPA) Global Registry (the "FOP Registry"). The mean current age of the patients is 23.7 years (range, 0.1 to 78 years). Baseline characteristics are presented for FOP diagnosis, HO, flare-ups and precedent events, system-based prevalent symptomatology, encounters with medical and dental care providers, Patient Reported Outcomes Measurement Information System (PROMIS) Global Health Scale scores, physical function, as well as the use of aids, assistive devices, and adaptations. Correlations of PROMIS Global Health scores with HO burden and physical function are calculated. Associations of joint mobility with PROMIS Global Health scores, physical function, and use of aids, assistive devices, and adaptations are summarized. Overall, the FOP Registry database contains a broad sample of the global FOP patient population, providing a useful tool for expanding knowledge of FOP, designing clinical trials and facilitating evidence-based decisions about the optimal monitoring and management of affected individuals. • A global, patient-reported Registry has been established to describe the disease course in FOP. • Baseline phenotypes are reported on 299 patients (54 countries) based on data from the Registry. • Data on FOP diagnosis, heterotopic ossification, and patient-reported outcomes are presented. • Associations of joint mobility with physical function and use of aids and devices are summarized. • The Registry is a useful tool for optimizing clinical management and clinical trial design in FOP. [ABSTRACT FROM AUTHOR]

Background: Pediatric onset of systemic lupus erythematosus (SLE) is associated with major organ involvement, and African patients tend to develop more aggressive disease than patients of European descent. Although cardiovascular involvement is common in pediatric SLE, there are few published reports on the subject. This study describes the frequency and characteristics of cardiac and vascular manifestations of pediatric SLE in a multi-ethnic South African cohort. Methods: Demographic, clinical, and echocardiographic data were collected from pediatric SLE patients at two centers in Cape Town, South Africa. At the time of investigation, this cohort consisted of 93 participants diagnosed with SLE according to international classification criteria prior to the age of 19. Individuals with cardiac and/or vascular involvement were identified by retrospective chart review. Cardiac manifestations were defined as presence of pericardial effusion, myocarditis, cardiomyopathy, cardiac failure, Libman-Sacks endocarditis, myocardial infarction, and arrhythmia. Vascular manifestations included deep vein thrombosis, pulmonary embolism, sinus thrombosis, stroke, critical limb ischemia, cerebral vasculitis and systemic vasculitis. Statistical analysis was performed using R (v3.4.1). Results: Cardiac and vascular involvement was present in 47% of the cohort. Previous studies have reported prevalence of 5%—50%. Demographic features of those with cardiac/vascular involvement did not differ from the overall cohort. Echocardiographic data were available for 23 participants. The most common cardiac manifestations were pericardial effusion (n = 24) and cardiac failure (n = 8), while the most common vascular manifestations were cerebral vasculitis (n = 9), stroke (n = 7), and pulmonary embolism (n = 7). Cardiovascular manifestations were frequently severe; one third of pericardial effusion cases required intervention, including three cases of cardiac tamponade. Cardiac and vascular involvement conferred an increased risk of mortality (31.1% versus 10.4%). Conclusions: Cardiac and vascular involvement were highly prevalent in this South African cohort. The mortality rate was high, and severe manifestations were frequent. Prospective research is needed to improve knowledge of pediatric SLE in Africa and to improve outcomes for this high-risk population. [ABSTRACT FROM AUTHOR]

An abstract of the conference paper "Juvenile idiopathic arthritis (JIA) in two tertiary centres in the Western Cape, South Africa," by Kate Weakley and colleagues is presented.