Articles

Patient with H syndrome, cardiogenic shock, multiorgan infiltration, and digital ischemia

H syndrome (HS) is a rare autoinflammatory disease caused by a mutation in the solute carrier family 29, member 3 (SCL29A3) gene. It has a variable clinical presentation and little phenotype-genotype correlati...

Authors: Laura Ventura-Espejo, Inés Gracia-Darder, Silvia Escribá-Bori, Eva Regina Amador-González, Ana Martín-Santiago and Jan Ramakers

A cross-sectional cohort study of the activity and turnover of neutrophil granulocytes in juvenile idiopathic arthritis

The inflammatory process in juvenile idiopathic arthritis (JIA) involves both the innate and the adaptive immune system. The turnover and activity of neutrophil granulocytes may be reflected by proteins secret...

Authors: Malin Backlund, Per Venge and Lillemor Berntson

Assessment of transition readiness in adolescents in Thailand with rheumatic diseases: a cross-sectional study

Most childhood-onset rheumatic diseases are chronic health conditions, which need long-term care throughout adulthood. A well-organized transition care is challenging and patient assessment of transition skill...

Authors: Sirinthip Kittivisuit, Butsabong Lerkvaleekul, Sirisucha Soponkanaporn, Pintip Ngamjanyaporn and Soamarat Vilaiyuk

A case of dermatomyositis in a patient with central core disease: unusual association with autoimmunity and genetic muscle disease

Dermatomyositis is an inflammatory muscle disease caused by immune-mediated muscle injury, and central core disease (CCD) is a congenital myopathy associated with disturbed intracellular calcium homeostasis an...

Authors: Min Jung Kim, Mi Hyeon Kim, Sung-Hye Park and Yeong Wook Song

Cutaneous mucinosis of infancy: a rare case of joint involvement

Primary cutaneous mucinosis are a heterogeneous group of diseases characterized by the deposition of glycosaminoglycans in the dermis and the follicles. These diseases are rare in children therefore their diag...

Authors: Cristina Morreale, Dario Bleidl, Angela Rita Sementa and Clara Malattia

Intravenous administration of anakinra in children with macrophage activation syndrome

Subcutaneous anakinra is an interleukin-1 inhibitor used to treat juvenile idiopathic arthritis. Recent reports suggest anakinra can be a valuable addition to the treatment of COVID-19 associated cytokine stor...

Authors: Omkar Phadke, Kelly Rouster-Stevens, Helen Giannopoulos, Shanmuganathan Chandrakasan and Sampath Prahalad

Clinical and psychosocial stress factors are associated with decline in physical activity over time in children with juvenile idiopathic arthritis

Physical activity (PA) patterns in children with juvenile idiopathic arthritis (JIA) over time are not well described. The aim of this study was to describe associations of physical activity (PA) with disease ...

Authors: Liane D. Heale, Kristin M. Houghton, Elham Rezaei, Adam D. G. Baxter-Jones, Susan M. Tupper, Nazeem Muhajarine, Susanne M. Benseler, Gilles Boire, David A. Cabral, Sarah Campillo, Gaëlle Chédeville, Anne-Laure Chetaille, Paul Dancey, Ciaran Duffy, Karen Watanabe Duffy, Janet Ellsworth…

Factors affecting the duration of coronary artery lesions in patients with the Kawasaki disease: a retrospective cohort study

Coronary artery lesions (CALs) are the most severe complication of Kawasaki disease (KD). Approximately 9–20% of the patients with KD develop CAL despite receiving regular treatment (intravenous immunoglobulin...

Authors: Xuting Zhang, Yuee He, Yiping Shao, Biyao Hang, Zhipeng Xu and Maoping Chu

Predictive model based on gene and laboratory data for intravenous immunoglobulin resistance in Kawasaki disease in a Chinese population

Here, we investigated the predictive efficiency of a newly developed model based on single nucleotide polymorphisms (SNPs) and laboratory data for intravenous immunoglobulin (IVIG) resistance in Kawasaki disea...

Authors: Li Meng, Zhen Zhen, Qian Jiang, Xiao-hui Li, Yue Yuan, Wei Yao, Ming-ming Zhang, Ai-jie Li and Lin Shi

Outcomes of COVID-19 in a cohort of pediatric patients with rheumatic diseases

There are few reports of COVID-19 in pediatric patients with rheumatic diseases. This study describes the clinical presentation and outcomes of COVID-19 in this population.

Authors: D. Sofia Villacis-Nunez, Christina A. Rostad, Kelly Rouster-Stevens, Arezou Khosroshahi, Shanmuganathan Chandrakasan and Sampath Prahalad

Telemedicine use by pediatric rheumatologists during the COVID-19 pandemic

To characterize various aspects of telemedicine use by pediatric rheumatology providers during the recent pandemic including provider acceptability of telehealth practices, clinical reliability, and clinical a...

Authors: Rajdeep Pooni, Tova Ronis and Tzielan Lee

Myositis autoantibodies in a racially diverse population of children with idiopathic inflammatory myopathies

Juvenile idiopathic inflammatory myopathies (JIIMs) is a group of autoimmune disorders, including juvenile dermatomyositis (JDM), juvenile polymyositis (JPM) and overlap myositis, that are characterized by pro...

Authors: Megan Mariko Perron, Natalia Vasquez-Canizares, Gabriel Tarshish and Dawn M. Wahezi

Frequency of Fabry disease in a juvenile idiopathic arthritis cohort

Fabry disease (FD) is a rare, X-linked, multisystemic lysosomal storage disorder (LSD) that results from a deficiency in the hydrolase alpha-galactosidase A (⍺-GalA). During childhood, classic FD symptomatolog...

Authors: Luciana Paim-Marques, Amanda Virginia Cavalcante, Islane Verçosa, Paula Carneiro, Marcia Souto-Maior, Erlane Marques and Simone Appenzeller

Juvenile idiopathic arthritis in Jordan: single center experience

Juvenile idiopathic arthritis (JIA) is a heterogeneous group of disorders, including all forms of arthritis, which develops in children who are less than 16 years old. This study aimed to evaluate the clinical...

Authors: Raed M. Alzyoud, Motasem O. Alsuweiti, Heba Q. Almaaitah, Bushra N. Aladaileh, Mohammad K. Alnoubani and Adel M. Alwahadneh

Post SARS-CoV-2 infection reactive arthritis: a brief report of two pediatric cases

Although, preliminary reports of Severe Acute Respiratory Syndrome (SARS)-CoV-2 infection suggest that the infection causes a less severe illness in children, there is now growing evidence of other rare or eve...

Authors: Reza Sinaei, Sara Pezeshki, Saeedeh Parvaresh, Roya Sinaei, Reza Shiari, Mehrnoush Hassas Yeganeh, Nasrin Bazargn and Nava Gharaei

A pilot study of possible anti-inflammatory effects of the specific carbohydrate diet in children with juvenile idiopathic arthritis

To explore possible anti-inflammatory effects of the specific carbohydrate diet in children with juvenile idiopathic arthritis. This diet has shown anti-inflammatory effect in children with inflammatory bowel ...

Authors: Lillemor Berntson

Uncharted waters: mesenchymal stem cell treatment for pediatric refractory rheumatic diseases; a single center case series

With the advent of innovative therapies including biologics and Janus kinase inhibitors, children with rheumatic diseases are more likely to have improved outcomes. Despite these advances, some children do not...

Authors: Stephen C. Wong, Leah C. Medrano, Alice D. Hoftman, Olcay Y. Jones and Deborah K. McCurdy

COVID-19 and myositis; true dermatomyositis or prolonged post viral myositis?

Authors: Nasim Movahedi and Vahid Ziaee

A mixed methods evaluation of the Paediatric Musculoskeletal Matters (PMM) online portfolio

The PMM Portfolio is comprised of the Paediatric Musculoskeletal Matters (PMM) website, the paediatric Gait, Arms, Legs and Spine (pGALS) app and e-learning modules (ELM). The target audiences are non-speciali...

Authors: Nicola Smith, Helen E. Foster and Sharmila Jandial

Reintroduction of immunosuppressive medications in pediatric rheumatology patients with histoplasmosis: a case series

Children with rheumatic diseases (cRD) receiving immunosuppressive medications (IM) are at a higher risk for acquiring potentially lethal pathogens, including Histoplasma capsulatum (histoplasmosis), a fungal inf...

Authors: Rachel A. Brown, Fatima Barbar-Smiley, Cagri Yildirim-Toruner, Monica I. Ardura, Stacy P. Ardoin and Shoghik Akoghlanian

Development and validation of the RACER (Readiness for Adult Care in Rheumatology) transition instrument in youth with juvenile idiopathic arthritis

Current evidence suggests that many adolescents with juvenile idiopathic arthritis (JIA) do not successfully transfer to adult care, which can result in adverse health outcomes. Although a growing number of cl...

Authors: Lynn Spiegel, Lori Tucker, Karen Watanabe Duffy, Chitra Lalloo, Amos Hundert, Josiane Bourre-Tessier, Elizabeth Hazel, Nadia Luca, Dianne Mosher, Cynthia Nguyen, Elizabeth Stringer, Charles Victor and Jennifer Stinson

Serum tenascin-C predicts resistance to steroid combination therapy in high-risk Kawasaki disease: a multicenter prospective cohort study

Tenascin-C (TN-C) is an extracellular matrix glycoprotein related to tissue inflammation. Our previous retrospective study conducted in 2016 revealed that the serum tenascin-C level was higher in patients with...

Authors: Yukako Yoshikane, Yoshiaki Okuma, Tatsuki Miyamoto, Junichi Hashimoto, Ryuji Fukazawa, Taichi Kato, Atsuhito Takeda, Kenji Suda, Takeji Matsushita, Michiaki Hiroe and Kyoko Imanaka-Yoshida

Pyoderma gangrenosum-like ulceration as a presenting feature of pediatric granulomatosis with polyangiitis

Granulomatosis with polyangiitis (GPA) is an anti-neutrophilic cytoplasmic antibody-associated vasculitis affecting small to medium-sized vessels and involves most commonly the kidneys and the respiratory trac...

Authors: Rotem Semo Oz, Oluwakemi Onajin, Liora Harel, Rotem Tal, Tomas Dallos, Adena Rosenblatt, Lukas Plank and Linda Wagner-Weiner

Juvenile idiopathic arthritis in Harlequin ichthyosis, a rare combination or the clinical spectrum of the disease? Report of a child treated with etanercept and review of the literature

Harlequin ichthyosis (HI) is the most severe phenotype of autosomal recessive congenital ichthyosis. Juvenile Idiopathic Arthritis (JIA) represents a heterogenous group of disorders all sharing the clinical ma...

Authors: Francesco Baldo, Michela Brena, Simone Carbogno, Francesca Minoia, Stefano Lanni, Sophie Guez, Antonella Petaccia, Carlo Agostoni, Rolando Cimaz and Giovanni Filocamo

Streptococcal infection in childhood Henoch-Schönlein purpura: a 5-year retrospective study from a single tertiary medical center in China, 2015–2019

The present study focuses on the associations of streptococcal infection with the clinical phenotypes, relapse/recurrence and renal involvement in Henoch-Schönlein purpura (HSP) children.

Authors: Guo Zhen Fan, Rui Xue Li, Qi Jiang, Man Man Niu, Zhen Qiu, Wei Xia Chen, Hui Hui Liu, Jin Wei Ruan and Peng Hu

The occurrence of coronary artery lesions in Kawasaki disease based on C-reactive protein levels: a retrospective cohort study

This study aimed to assess the occurrence of coronary artery lesions (CAL) in patients with Kawasaki disease (KD) according to serum C-reactive protein (CRP) levels.

Authors: Hyo Soon An, Gi Beom Kim, Mi Kyoung Song, Sang Yun Lee, Hye Won Kwon, Joo Won Lee and Eun Jung Bae

Necrotizing Funisitis as an Intrauterine manifestation of Cryopyrin-Associated Periodic Syndrome: a case report and review of the literature

Cryopyrin-associated periodic syndrome (CAPS) is a life-long, autoinflammatory disease associated with a gain-of-function mutation in the nucleotide-binding domain, leucine-rich repeat family, pyrin domain con...

Authors: Kyoko Yokoi, Sachiko Minamiguchi, Yoshitaka Honda, Mizuho Kobayashi, Satoru Kobayashi and Ryuta Nishikomori

The “Intermediate” CD14 + CD16 + monocyte subpopulation plays a role in IVIG responsiveness of children with Kawasaki disease

Kawasaki disease (KD) is an acute, self-limited febrile illness of unknown cause. Intravenous immunoglobulin (IVIG)-resistance are related to greater risk for permanent cardiac complications. We aimed to deter...

Authors: Yi Seul Kim, Hyun Jin Yang, Seung-Jung Kee, Insu Choi, Kisoo Ha, Katrina K Ki, In Seok Jeong and Hwa Jin Cho

Clinical characteristics and genetic analysis of A20 haploinsufficiency

To evaluate the clinical and genetic characteristics of 3 children with Haploinsufficiency of A20 (HA20). Methods:The clinical and genetic testing data of 3 children with HA20 treated at Capital Institute of P...

Authors: Dan Zhang, Gaixiu Su, Zhixuan Zhou and Jianming Lai

Juvenile primary fibromyalgia syndrome: A Review- Treatment and Prognosis

Juvenile primary fibromyalgia syndrome (JPFS) is a chronic musculoskeletal pain syndrome affecting children and adolescents. In part one of this review, we discussed the epidemiology, etiology, pathogenesis, c...

Authors: Maya Levy Coles and Yosef Uziel

Findings and feasibility of major salivary gland ultrasound in childhood-onset systemic lupus erythematosus: a pilot study

Childhood-onset systemic lupus erythematosus (cSLE) is a complex autoimmune disorder with multi-organ manifestations and can be associated with other rheumatic diseases including Sjögren’s syndrome (SS). Saliv...

Authors: Joseph McDonald, Patricia Vega-Fernandez and Tracy Ting

The culture microenvironment of juvenile idiopathic arthritis synovial fibroblasts is favorable for endochondral bone formation through BMP4 and repressed by chondrocytes

We examined influences of conditioned media from chondrocytes (Ch) on juvenile idiopathic arthritis synovial fibroblasts (JFLS) and potential for JFLS to undergo endochondral bone formation (EBF).

Authors: Megan M. Simonds, Amanda R. Schlefman, Suzanne M. McCahan, Kathleen E. Sullivan, Carlos D. Rose and Anne Marie C. Brescia

Age, gender, height and weight in relation to joint cartilage thickness among school-aged children from ultrasonographic measurement

Among school-age children, the decrease of cartilage thickness (Cth) with increasing age is well known. However, the influence of body mass index (BMI), height or weight on Cth has not been revealed. Here in, ...

Authors: Chun-Chun Gau, Tsung-Chieh Yao, Shu-Ting Gan, Syh-Jae Lin, Kuo-Wei Yeh, Li-Chen Chen, Liang- Shiou Ou, Wen-I Lee, Chao-Yi Wu and Jing-Long Huang

Genetic and immunologic findings in children with recurrent aphthous stomatitis with systemic inflammation

Recurrent aphthous stomatitis with systemic signs of inflammation can be encountered in inflammatory bowel disease, Behçet’s disease (BD), Systemic Lupus Erythematosus (SLE). In addition, it has been proposed ...

Authors: Martina Girardelli, Erica Valencic, Valentina Moressa, Roberta Margagliotta, Alessandra Tesser, Serena Pastore, Ottavia Spadola, Emmanouil Athanasakis, Giovanni Maria Severini, Andrea Taddio and Alberto Tommasini

Pediatric rheumatology in Africa: thriving amidst challenges

Pediatric Rheumatology is an orphan specialty in Africa which is gradually gaining importance across the continent.

Authors: Angela N. Migowa, Djohra Hadef, Wafa Hamdi, Oscar Mwizerwa, Madeleine Ngandeu, Yassmin Taha, Faleye Ayodele, Kate Webb and Christiaan Scott

Severe COVID-19 in pediatric age: an update on the role of the anti-rheumatic agents

SARS-CoV-2 can induce an immune impairment and dysregulation, finally resulting in the massive release of inflammatory mediators (cytokine storm), strongly contributing to the pulmonary and systemic manifestat...

Authors: Giorgio Costagliola, Erika Spada and Rita Consolini

Electronic forms for patient reported outcome measures (PROMs) are an effective, time-efficient, and cost-minimizing alternative to paper forms

Patient reported outcome measures (PROMs) provide valuable insight on patients’ well-being and facilitates communication between healthcare providers and their patients. The increased integration of the techno...

Authors: Jennifer Y. Yu, Talia Goldberg, Nicholas Lao, Brian M. Feldman and Y. Ingrid Goh

Biomarkers of lipid metabolism in patients with juvenile idiopathic arthritis: relationship with disease subtype and inflammatory activity

To describe the biomarkers of lipid metabolism in children and adolescents with polyarticular and systemic JIA and to relate them to diseases subtypes, diseases activity markers, and nutritional status.

Authors: Wellington Douglas Rocha Rodrigues, Roseli Oselka Saccardo Sarni, Fernando Luiz Affonso Fonseca, Annelyse Araújo, Claudio Arnaldo Len and Maria Teresa Terreri

Time for change at PROJ in 2021

Authors: Charles H. Spencer and Alberto Martini

Trajectories of disease courses in the inception cohort of newly diagnosed patients with JIA (ICON-JIA): the potential of serum biomarkers at baseline

Juvenile idiopathic arthritis (JIA) is a heterogeneous group of inflammatory joint disorders with a chronic-remitting disease course. Treat-to-target approaches have been proposed but monitoring disease activi...

Authors: Margarita Ganeva, Sabrina Fuehner, Christoph Kessel, Jens Klotsche, Martina Niewerth, Kirsten Minden, Dirk Foell, Claas H. Hinze and Helmut Wittkowski

Disseminated coccidioidomycosis in a patient with juvenile idiopathic arthritis receiving infliximab

Coccidioides immitis is a dimorphic fungus endemic to the arid climates of the Southwest United States, Mexico and parts of Central and South America. Human infection occurs through inhalation of spores with less...

Authors: Megan Trainor, Emily Henkel, Lucia Z. Diaz and Ruy Carrasco

Factors associated with reduced infliximab exposure in the treatment of pediatric autoimmune disorders: a cross-sectional prospective convenience sampling study

Inadequate systemic exposure to infliximab (IFX) is associated with treatment failure. This work evaluated factors associated with reduced IFX exposure in children with autoimmune disorders requiring IFX therapy.

Authors: Ryan S. Funk, Valentina Shakhnovich, Yu Kyoung Cho, Kishore Polireddy, Taina Jausurawong, Kyle Gress and Mara L. Becker

Assessing preparation for care transition among adolescents with rheumatologic disease: a single-center assessment with patient survey

Despite the risk for poor outcomes and gaps in care in the transfer from pediatric to adult care, most pediatric rheumatology centers lack formal transition pathways. As a first step in designing a pathway, we...

Authors: Jordan E. Roberts, Olha Halyabar, Carter R. Petty and Mary Beth Son

Utilizing ultrasound findings of a single indicator joint to assess non-systemic juvenile idiopathic arthritis

Musculoskeletal ultrasound (MSUS) has been used worldwide in adult patients with rheumatoid arthritis (RA) but is beginning to play an increasing role in patients with juvenile idiopathic arthritis (JIA). The ...

Authors: Yung-Hsien Huang, Ya-Chiao Hu, Chun-Hua Liao, Bor-Luen Chiang, Cheng-Hsun Lu, Ko-Jen Li and Yao-Hsu Yang

Therapeutic drug monitoring of anti-TNF drugs: an overview of applicability in daily clinical practice in the era of treatment with biologics in juvenile idiopathic arthritis (JIA)

Anti-tumor necrosis factor (TNF) drugs have improved the prognosis for juvenile idiopathic arthritis (JIA) significantly. However, evidence for individual treatment decisions based on serum anti-TNF drug level...

Authors: A. Nassar-Sheikh Rashid, D. Schonenberg-Meinema, S. C. Bergkamp, S. Bakhlakh, A. de Vries, T. Rispens, T. W. Kuijpers, G. Wolbink and J. M. van den Berg

Musculoskeletal ultrasound assessment in pediatric knee hypermobility: a case control study

While musculoskeletal ultrasound (MSUS) use in pediatric rheumatology is becoming more common, the majority of pediatric MSUS literature continues to focus on ultrasound findings in healthy children and juveni...

Authors: Laura R. Ballenger, Melissa Moore-Clingenpeel and Edward J. Oberle

Is podocytopathy another image of renal affection in p-SLE?

Lupus podocytopathy (LP) is a renal affection described in systemic lupus erythematosus (SLE) patients with nephrotic range proteinuria, characterized by diffuse foot process effacement without immune deposits...

Authors: Hend H. Abdelnabi

Bone mineral density and explanatory factors in children and adults with juvenile dermatomyositis at long term follow-up; a cross sectional study

Juvenile dermatomyositis (JDM) is the most common idiopathic inflammatory myopathy in children and adolescents. Both the disease and its treatment with glucocorticoids may negatively impact bone formation. In ...

Authors: Henriette Schermacher Marstein, Kristin Godang, Berit Flatø, Ivar Sjaastad, Jens Bollerslev and Helga Sanner

Fecal microbiota in children with juvenile idiopathic arthritis treated with methotrexate or etanercept

Alterations in the composition of the fecal microbiota in children with juvenile idiopathic arthritis (JIA) have been observed in several studies, but it has not been determined whether the standard treatment ...

Authors: Anders Öman, Johan Dicksved, Lars Engstrand and Lillemor Berntson

Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case report

Biallelic loss-of-function variants in NCF1 lead to reactive oxygen species deficiency and chronic granulomatous disease (CGD). Heterozygosity for the p.Arg90His variant in NCF1 has been associated with susceptib...

Authors: Oskar Schnappauf, Liane Heale, Dilan Dissanayake, Wanxia L. Tsai, Massimo Gadina, Thomas L. Leto, Daniel L. Kastner, Harry L. Malech, Douglas B. Kuhns, Ivona Aksentijevich and Ronald M. Laxer