scholarly journals Multicentric Carpo-Tarsal Osteolysis Syndrome Mimicking Juvenile Idiopathic Arthritis: Two Case Reports and Review of the Literature

2021 ◽  
Vol 9 ◽  
Author(s):  
Junfeng Wu ◽  
Li Wang ◽  
Ye Xu ◽  
Zhiyong Zhang ◽  
Xin Yan ◽  
...  
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Disease Activity ◽  
Novel Mutation ◽  
Case Reports ◽  
Response To Treatment ◽  
Bzip Transcription Factor ◽  
Multiple Systems ◽  
Delay In Diagnosis ◽  
Tarsal Bones ◽  
Bony Lesions

Multicentric carpo-tarsal osteolysis syndrome (MCTO) is a rare skeletal disorder commonly caused by MAF bZIP transcription factor B (MAFB) mutation. Clinically, it is characterized by aggressive osteolysis, which mainly affects the carpal tarsal bones, and is frequently associated with progressive nephropathy. Since the painful swelling and motion limitation on the wrists and/or ankles of MCTO mimics those of juvenile idiopathic arthritis (JIA), very often, MCTO is misdiagnosed as JIA. Here, we report two MCTO patients initially diagnosed with JIA but showed no response to treatment: P1, with a medical history of more than 10 years, was presented with a typical triad of arthritis-osteolysis-nephropathy; while P2 showed oligoarthritis. Gene tests were then taken and revealed a novel mutation, p.P63Q, and a previously reported conversion, p.S54L, in the MAFB gene. We also summarized the clinical and genetic features of a cohort containing 49 genetically confirmed MCTO patients. All 51 gene-confirmed MCTO cases (49 identified from the literature plus two patients identified herein) developed the disease during childhood. The median delay in diagnosis was 3.83 years (0–35 years). All cases presented bony lesions, and two-thirds had secondary renal lesions (32/48; three unknown), half of which (16/32) progressed into renal failure. Almost two-thirds (34/51), 75% (38/51), and 71% (36/51) of patients had no record of eye problems, facial abnormalities, and other manifestations. Most were misdiagnosed as JIA but didn't respond to treatment. Based on our experience, we suggest that clinicians should comprehensively evaluate the involvement of multiple systems in JIA patients, especially the kidney and eyes. And for JIA patients who underwent more than 3-month treatment with Bio-DMARD, genetic tests are recommended when they show little/no clinical and imaging changes, their high disease activity remains, and their disease activity remission is <50%, especially when combined with a triad of arthritis-osteolysis-nephropathy.

scholarly journals Serum Calprotectin (S100A8/A9): A Promising Biomarker in Diagnosis and Follow-up in Different Subgroups of Juvenile Idiopathic Arthritis

2021 ◽  
Author(s):  
Céline La ◽  
Phu Quoc Lê ◽  
Alina Ferster ◽  
Laurence Goffin ◽  
Delphine Spruyt ◽  
...  
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Disease Activity ◽  
Added Value ◽  
Response To Treatment ◽  
Inactive Disease ◽  
Enzyme Linked Immunosorbent Assay ◽  
Healthy Controls ◽  
Minimal Disease ◽  
Active Disease

Abstract IntroductionIn the management of juvenile idiopathic arthritis (JIA), there is a lack of diagnostic and prognostic biomarkers. This study assesses the use of serum calprotectin (sCal) as a marker to monitor disease activity, and as a classification and prognosis tool of response to treatment or risk of flares in patients with JIA. MethodsEighty-one patients with JIA from the CAP48 multicentric cohort were included in this study, as well as 11 non-pediatric healthy controls. An enzyme-linked immunosorbent assay (ELISA) method was used to quantify sCal with a commercial kit.ResultsPatients with an active disease compared to healthy controls and to patients with inactive disease showed an 8-fold and a 2-fold increased level of sCal respectively. sCal was found to be correlated with the CRP and even more strongly with the ESR. Evolution of DAS28 scores correlated well with evolution of sCal, as opposed to evolution of CRP. With regard to CRP, sCal could differentiate forms with active oligoarthritis from polyarthritis and systemic forms. However, sCal brought an added value compared to the CRP as a prognosis marker. Indeed, patients with active disease and reaching minimal disease activity (according to JADAS) at 6 months following the test had higher sCal levels, while patients with inactive disease had higher sCal levels if a flare was observed up to 3 to 9 months following the test.ConclusionsThis study confirms the potential uses of serum calprotectin as a biomarker in the diagnosis and follow-up of JIA.

scholarly journals The Impact of Epstein-Barr Virus Infection on Juvenile Idiopathic Arthritis Activity and Patient’s Response to Treatment

2020 ◽  
Vol 9 (11) ◽  
pp. 3453
Author(s):  
Violetta Opoka-Winiarska ◽  
Ewelina Grywalska ◽  
Aleksandra Sobiesiak ◽  
Jacek Roliński
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Disease Activity ◽  
Epstein Barr Virus ◽  
Response To Treatment ◽  
Barr Virus ◽  
Ebv Infection ◽  
History Of ◽  
Epstein Barr ◽  
The Impact ◽  
Infection Markers

This study aimed to investigate the relationship between Epstein-Barr virus (EBV) infection and the onset of juvenile idiopathic arthritis (JIA), disease activity, and response to treatment. The study included 44 children with JIA, 23 children with different types of arthritis, and 44 controls. We measured EBV infection markers, including the EBV DNA load and the concentration of antibodies to viral antigens, at disease onset, before treatment. Six months after JIA diagnosis and the initiation of treatment patients with anti-viral capsid antigen IgG had a higher disease activity and worse response to treatment than patients without previous infection. After six months of treatment, the probability of disease inactivity in children without a history of EBV infection was almost 6.5 times greater than in a child with a history of infection. Furthermore, the probability of a better response after six months of treatment in a child with a history of EBV infection was more than five times smaller than in a child without infection. A past EBV infection can have a negative effect on achieving disease remission and may be associated with a worse response to treatment. Our results do not indicate the need for routine assessment of EBV infection markers in patients with JIA.

scholarly journals AB0740 IMPACT OF DIAGNOSIS DELAY ON DISEASE PARAMETERS DURING JUVENILE IDIOPATHIC ARTHRITIS

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 1399.2-1399
Author(s):  
H. Bettaieb ◽  
H. Ferjani ◽  
K. Maatallah ◽  
D. Kaffel ◽  
W. Hamdi
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Bone Loss ◽  
Disease Activity ◽  
Activity Index ◽  
Joint Destruction ◽  
Disease Onset ◽  
Atlantoaxial Subluxation ◽  
P Value ◽  
Diagnosis Delay ◽  
Delay In Diagnosis

Background:Juvenile idiopathic arthritis (JIA) is the most common type of arthritis in childhood (1). Prompt diagnosis is mandatory to avoid joint destruction and growth abnormalities. However, it’s often misdiagnosed by pediatricians and general practitioners leading to longer diagnosis delay (2).Objectives:The aim of this study was to evaluate the lag time between JIA symptoms onset and diagnosis and its impact on disease activity and bone loss.Methods:A retrospective monocentric study was carried out on JIA patients (ILAR criteria). Diagnosis delay was collected from the patient’s medical files. Disease activity at JIA diagnosis was evaluated by JADAS10 (Juvenile Arthritis Disease Activity Score) in poly and oligoarticular subtypes and by BASDAI (Bath Ankylosing Spondylitis Disease Activity Index) in arthritis related enthesitis form. The data were analyzed using the SPSS statistical package. A p value < 0.05 was considered significant.Results:We enrolled 48 JIA (31 male and 17 female) with a mean age at disease onset of 11.2 ± 3.8 years. The median disease duration was 84 months [2-408]. The median JIA diagnosis delay was 8 months [1-108]. The JIA subgroups were in decreasing order of frequency: Enthesitis-related Arthritis (n=32), Polyarticular RF- (n=4), Polyarticular RF+ (n=2), Oligoarticular (n=6), Systemic (n=2), Psoriatic Arthritis (n=1) and Undifferentiated (n=1).At diagnosis, median ESR and CRP were 44 mm/hour [2-100] and 24 mg/l [2-86] respectively. Median JADAS10 score was 4 [0-21]. Median BASDAI score was 6.2 [2-9.4].At follow-up, five patients (10.4%) had atlantoaxial subluxation and 17 had coxitis (43.8%).At bone densitometry, 45% of patients had osteroposis and 27.5% had osteopenia.An agreement was assessed between a long diagnosis delay and the following parameters: male gender (p=0.04) and osteoporosis (p=0.018). A Significant positive correlation was found between delay in JIA diagnosis and BASDAI score (p=0.047, r=0.63). No association was found between JIA diagnosis delay and JADAS score (p=0.56). Neither ESR (p=0.19) nor CRP (p=0.42) was associated with JIA diagnosis delay.Finally, no link was observed with the occurrence of hip arthritis (p=0.281) or atlantoaxial subluxation (p=0.137).Conclusion:In this study, delay in diagnosis was associated with higher disease activity scores and bone loss. Our results suggest that early identification and treatment of JIA leads to improved outcomes as well as bone mass.References:[1]Petty R.E., Southwood T.R., Manners P. International League of Associations for Rheumatology classification of juvenile idiopathic arthritis: second revision, Edmonton, 2001. J Rheumatol. 2004;31(2):390.[2]Foster HE, Scott C, Tiderius CJ,et al. Improving musculoskeletal health for children and young people - A ‘call to action’. Best Pract Res Clin Rheumatol. 2020 Oct;34(5):101566.Disclosure of Interests:None declared

Vaccination does not exacerbate juvenile idiopathic arthritis disease activity in a cohort of Dutch patients

2003 ◽  
Vol 28 (05) ◽  
Author(s):  
A Ronaghy ◽  
E Huijssoon ◽  
MA van Rossum ◽  
ABJ Prakken ◽  
GT Rijkers ◽  
...  
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Disease Activity

scholarly journals Hereditary pheochromocytoma/paraganglioma syndrome with a novel mutation in the succinate dehydrogenase subunit B gene in a Japanese family: two case reports

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Rei Hirose ◽  
Yuya Tsurutani ◽  
Chiho Sugisawa ◽  
Kosuke Inoue ◽  
Sachiko Suematsu ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Succinate Dehydrogenase ◽  
Novel Mutation ◽  
Case Reports ◽  
Site Mutation ◽  
Japanese Family ◽  
Paraganglioma Syndrome ◽  
Succinate Dehydrogenase Subunit B ◽  
Hereditary Pheochromocytoma ◽  
Subunit B

Abstract Background Pheochromocytoma and paraganglioma caused by succinate dehydrogenase gene mutations is called hereditary pheochromocytoma/paraganglioma syndrome. In particular, succinate dehydrogenase subunit B mutations are important because they are strongly associated with the malignant behavior of pheochromocytoma and paraganglioma . This is a case report of a family of hereditary pheochromocytoma/paraganglioma syndrome carrying a novel mutation in succinate dehydrogenase subunit B. Case presentation A 19-year-old Japanese woman, whose father died of metastatic paraganglioma, was diagnosed with abdominal paraganglioma, and underwent total resection. Succinate dehydrogenase subunit B genetic testing detected a splice-site mutation, c.424-2delA, in her germline and paraganglioma tissue. Afterwards, the same succinate dehydrogenase subunit B mutation was detected in her father’s paraganglioma tissues. In silico analysis predicted the mutation as “disease causing.” She is under close follow-up, and no recurrence or metastasis has been observed for 4 years since surgery. Conclusions We detected a novel succinate dehydrogenase subunit B mutation, c.424-2delA, in a Japanese family afflicted with hereditary pheochromocytoma/paraganglioma syndrome and found the mutation to be responsible for hereditary pheochromocytoma/paraganglioma syndrome. This case emphasizes the importance of performing genetic testing for patients with pheochromocytoma and paraganglioma suspected of harboring the succinate dehydrogenase subunit B mutation (that is, metastatic, extra-adrenal, multiple, early onset, and family history of pheochromocytoma and paraganglioma) and offer surveillance screening to mutation carriers.

scholarly journals POS0677 THE ROLE OF MUSCULOSKELETAL ULTRASOUND IN PREDICTING THE RESPONSE TO JAK INHIBITORS: RESULTS FROM A LARGE MONOCENTRIC COHORT

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 583-583
Author(s):  
C. Garufi ◽  
F. Ceccarelli ◽  
F. R. Spinelli ◽  
S. Mancuso ◽  
C. Pirone ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Disease Activity ◽  
Structural Damage ◽  
Power Doppler ◽  
Response To Treatment ◽  
Jak Inhibitors ◽  
Inflammatory Score ◽  
Inflammatory Status

Background:In the management of chronic arthritis, such as Rheumatoid Arthritis (RA), Ultrasound (US) assessment can provide relevant information about the joint inflammatory status in the diagnostic phase and even more in the monitoring of disease activity and structural damage1,2.Objectives:In this longitudinal study, we aimed to assesse the role of US in predicting the efficacy of JAK-inhibitors (JAKi) in RA patients.Methods:We enrolled RA patients starting baricitinib or tofacitinib. All patients were evaluated at baseline and after 4, 12, 24, 48 weeks. Disease activity was calculated by DAS28CRP. US examination in 22 joints (I–V MCPs and PIPs, wrists) aimed at evaluating inflammatory features (synovial effusion and hypertrophy, power Doppler-PD), through a semi-quantitative scale (0-3). The total US (0-198) and PD (0-66) scores were calculated. We scanned bilateral flexor (I–V fingers of hands) and extensor compartments (1-6) tendons: tenosynovitis was scored as absent/present (0/1), resulting in a total score (0-22).Results:We studied 102 patients (M/F 15/87; median age 59.2 years, IQR 17.75; median disease duration 144 months, IQR 126), 61 treated with baricitinib and 41 with tofacitinib. At baseline, the median total US score was 18 (IQR 19) and the median PD score 2 (4). We observed a significant reduction in both total and PD US scores at all time-points (p<0.0001) (Figure 1). At baseline, 75.4% of patients showed tenosynovitis involving at least one tendon, with a median score of 2 (IQR 3.5) significantly decreasing after 24 weeks (p=0.02). Multivariate analysis, adjusted for baseline DAS28CRP and other concomitant treatments (including glucocorticoids and methotrexate treatment), confirmed the independent association between baseline US (PD and tenosynovitis) scores and the reduction of disease activity at follow-up evaluations.Conclusion:The present study confirmed the early efficacy of JAKi in RA patients by using US evaluation. Furthermore, power doppler and tenosynovitis scores could play a predictive role in response to treatment.References:[1]MUELLER RB, HASLER C, POPP F, et al. Effectiveness, Tolerability, and Safety of Tofacitinib in Rheumatoid Arthritis: A Retrospective Analysis of Real-World Data from the St. Gallen and Aarau Cohorts. J Clin Med. 2019;8(10):1548.[2]COLEBATCH AN, EDWARDS CJ, ØSTERGAARD M, et al. EULAR recommendations for the use of imaging of the joints in the clinical management of rheumatoid arthritis. Ann Rheum Dis. 2013;72(6):804-14.Figure 1.Ultrasound inflammatory score (a) and Ultrasound Power Doppler (PD) score (b) at baseline and follow-up.Table 1.Baseline characteristics of 414 RA patients.WEEKS04122448US inflammatory score18 (19)11 (15.5)9.5 (11.7)7.5 (8)6 (11)US PD score2 (4)0 (2)0 (1)0 (1)0 (0.7)Disclosure of Interests:Cristina Garufi: None declared, Fulvia Ceccarelli: None declared, Francesca Romana Spinelli Speakers bureau: Abbvie, Eli Lilly, Consultant of: Gilead/Galapagos, Eli Lilly, Grant/research support from: Pfizer, Silvia Mancuso: None declared, Carmelo Pirone: None declared, Fabrizio Conti Speakers bureau: Abbvie, Eli Lilly, Sanofi, Pfizer, Consultant of: Gilead/Galapagos

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

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Liane D. Heale ◽  
Kristin M. Houghton ◽  
Elham Rezaei ◽  
Adam D. G. Baxter-Jones ◽  
Susan M. Tupper ◽  
...  
Keyword(s):  
Physical Activity ◽  
Juvenile Idiopathic Arthritis ◽  
Disease Activity ◽  
Psychosocial Stress ◽  
Juvenile Arthritis ◽  
Stress Factors ◽  
Healthy Children ◽  
Newly Diagnosed ◽  
Z Score ◽  
Over Time

Abstract Background 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 activity, function, pain, and psychosocial stress in the 2 years following diagnosis in an inception cohort of children with juvenile idiopathic arthritis (JIA). Methods In 82 children with newly diagnosed JIA, PA levels, prospectively determined at enrollment, 12 and 24 months using the Physical Activity Questionnaire for Children (PAQ-C) and Adolescents (PAQ-A) raw scores, were evaluated in relation to disease activity as reflected by arthritis activity (Juvenile Arthritis Disease Activity Score (JADAS-71)), function, pain, and psychosocial stresses using a linear mixed model approach. Results in the JIA cohort were compared to normative Pediatric Bone Mineral Accrual Study data derived from healthy children using z-scores. Results At enrollment, PA z-score levels of study participants were lower than those in the normative population (median z-score − 0.356; p = 0.005). At enrollment, PA raw scores were negatively associated with the psychosocial domain of the Juvenile Arthritis Quality of Life Questionnaire (r = − 0.251; p = 0.023). There was a significant decline in PAQ-C/A raw scores from baseline (median and IQR: 2.6, 1.4–3.1) to 24 months (median and IQR: 2.1, 1.4–2.7; p = 0.003). The linear mixed-effect model showed that PAQ-C/A raw scores in children with JIA decreased as age, disease duration, and ESR increased. The PAQ-C/A raw scores of the participants was also negatively influenced by an increase in disease activity as measured by the JADAS-71 (p <  0.001). Conclusion Canadian children with newly diagnosed JIA have lower PA levels than healthy children. The decline in PA levels over time was associated with disease activity and higher disease-specific psychosocial stress.

scholarly journals Post-Infectious Guillain–Barré Syndrome Related to SARS-CoV-2 Infection: A Systematic Review

Life ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 167
Author(s):  
Pasquale Sansone ◽  
Luca Gregorio Giaccari ◽  
Caterina Aurilio ◽  
Francesco Coppolino ◽  
Valentina Esposito ◽  
...  
Keyword(s):  
Single Case ◽  
Case Reports ◽  
Case Series ◽  
Guillain Barre Syndrome ◽  
Response To Treatment ◽  
Comprehensive Overview ◽  
Fisher Syndrome ◽  
Immunomodulating Therapy ◽  
Guillain Barré Syndrome ◽  
Guillain Barré

Background. Guillain-Barré syndrome (GBS) is the most common cause of flaccid paralysis, with about 100,000 people developing the disorder every year worldwide. Recently, the incidence of GBS has increased during the severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) epidemics. We reviewed the literature to give a comprehensive overview of the demographic characteristics, clinical features, diagnostic investigations, and outcome of SARS-CoV-2-related GBS patients. Methods. Embase, MEDLINE, Google Scholar, and Cochrane Central Trials Register were systematically searched on 24 September 2020 for studies reporting on GBS secondary to COVID-19. Results. We identified 63 articles; we included 32 studies in our review. A total of 41 GBS cases with a confirmed or probable COVID-19 infection were reported: 26 of them were single case reports and 6 case series. Published studies on SARS-CoV-2-related GBS typically report a classic sensorimotor type of GBS often with a demyelinating electrophysiological subtype. Miller Fisher syndrome was reported in a quarter of the cases. In 78.1% of the cases, the response to immunomodulating therapy is favourable. The disease course is frequently severe and about one-third of the patients with SARS-CoV-2-associated GBS requires mechanical ventilation and Intensive Care Unit (ICU) admission. Rarely the outcome is poor or even fatal (10.8% of the cases). Conclusion. Clinical presentation, course, response to treatment, and outcome are similar in SARS-CoV-2-associated GBS and GBS due to other triggers.

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