The relationship between Behçet's disease and the quality of life for pediatric patients and their parents.

OBJECTIVES: Chronic diseases impact people's quality of life (QoL). Behçet's disease (BD) is a multisystemic chronic disease characterized by vasculitis of various vessels. We aimed to assess QoL in paediatric BD (PEDBD) patients and their parents. METHODS: We conducted a cross-sectional study from June to December 2022, including PEDBD patients meeting classification criteria. We recorded clinical characteristics and assessed QoL using PedsQL for patients and WHOQOL-Bref for parents. RESULTS: A study of 38 patients (60.5% girls, 39.5% boys), median age 15.5 years (range 10-17), with oral aphthae and various mucocutaneous symptoms: genital ulcers (78.9%), pseudofolliculitis (76.3%), erythema nodosum (23.6%), and some with uveitis (13.1%), vascular (13.1%), neurological (10.5%), and gastrointestinal (5.2%) involvement. All were in remission under treatment. Median PedsQL scores: total 74.5 (range 40-94.8), physical health 76.5 (43-100), psychosocial health 75 (25-92); 14 patients scored below cutoff. Girls had lower physical health scores (P = .004), and disease duration correlated negatively with PedsQL score (r = -0.648, P = .001). Median WHOQOL score for parents: 50 (25-100), with 20 scoring below cutoff. CONCLUSION: One-third of PEDBD children and over half of their parents had low QoL. Disease duration and gender, as with many chronic illnesses, correlated with QoL in PEDBD.

Is strain echocardiography a more sensitive indicator of myocardial involvement in patients with multisystem inflammatory syndrome in children (MIS-C) associated with SARS-CoV-2?

OBJECTIVE: The aim of the study was to evaluate the early myocardial dysfunction detected by strain echocardiography in children with multisystem inflammatory syndrome related to SARS-CoV-2 infection. METHODS: This cross-sectional study was conducted with 47 patients diagnosed with MIS-C and 32 healthy age- and gender-matched children. All patients underwent two-dimensional, colour, pulsed, and tissue Doppler, and 2D speckle tracking echocardiography examination at admission, 2 weeks, and 2 months after discharge. The MIS-C patient group was compared with the control group. Echocardiographic changes in MIS-C patients during follow-up were evaluated. RESULTS: Of 47 patients, 30 (63.8%) were male and 17 (36.2%) were female. The mean age at diagnosis was 9.1 ± 4.3 (1.25-17) years. At admission, 25 patients had abnormal findings on conventional echocardiography. Among them, eight patients had left ventricular systolic dysfunction. Ejection fraction and fractional shortening were significantly lower in the patient group at admission compared to controls (p = 0.013, p = 0.010, respectively). While the ejection fraction was <55% in eight patients, and global longitudinal strain was lower than -2SD in 29 patients at admission. Global longitudinal strain z-score <-2SD persisted in 13 patients at 2-month follow-up. Ejection fraction increased above 55% in 3.42 ± 0.53 days in 7 of 8 patients with left ventricular systolic dysfunction, ejection fraction was 51% at discharge in one patient, and left ventricular systolic dysfunction persisted at the 6-month of follow-up. CONCLUSION: These results confirmed that speckle tracking echocardiography is more likely to detect subclinical myocardial damage compared to conventional echocardiography. In addition, it is a valuable method for follow-up in this patient group.

The feasibility of withdrawing canakinumab in paediatric colchicine-resistant familial Mediterranean fever patients.

OBJECTIVES: To determine the feasibility of withdrawing canakinumab (CAN) in a large cohort of paediatric patients with colchicine-resistant familial Mediterranean fever (crFMF). METHODS: This retrospective observational cohort study included paediatric crFMF patients that received CAN treatment for ≥6 months. Patient data were recorded at treatment onset (baseline), and at 1, 3, 6, 12, 18, and 24 months after initiation of treatment. RESULTS: The study included 114 patients that were followed-up for 2736 person-months. During the 24-month follow-up period, the CAN dose interval remained unchanged in 44 patients. The dose interval was extended in 58 patients within a median 6 months (range: 3-18 months) of treatment initiation. In all, 4 of these 58 patients had a new attack of crFMF after the dose interval was extended. CAN was withdrawn in 12 patients (in 5 at month 12 month and in 7 at month 18), of which 2 had a new attack within 3 months of withdrawal. In these 2 patients CAN was re-initiated with a dose interval of 8 weeks. The remaining 10 patients in which CAN was withdrawn did not report any symptoms throughout the remainder of the 24-month follow-up period. The median attack-free period in those treated with CAN was 669 d (95% CI: 644-696). CONCLUSIONS: The present findings show that it may be feasible to withdraw CAN or extend its dose interval in paediatric crFMF patients. Based on the present findings, we think that as the quantity of real-life data increases, standard CAN protocols may be developed.

A Novel Missense LIG4 Mutation in a Patient With a Phenotype Mimicking Behçet's Disease.

DNA ligase IV (LIG4) syndrome is a rare autosomal recessive disorder, manifesting with variable immune deficiency, growth failure, predisposition to malignancy, and cellular sensitivity to ionizing radiation. The facial features are subtle and variable, as well. Herein, we described an 18-year-old boy, the first child of consanguineous parents who presented with Behçet's disease (BD)-like phenotype, developmental delay, and dysembryoplastic neuroepithelial tumor (DNET). Whole-exome sequencing revealed a homozygous p.Arg871His (c.2612G > A) mutation in LIG4. To date, 35 cases have been reported with LIG4 syndrome. Peripheral blood mononuclear cells of the patient displayed notable sensitivity to ionizing radiation. Flow cytometric annexin V-propidium iodide (PI) and eFluor670 proliferation assays showed accelerated radiation-induced apoptosis and diminished proliferation, respectively. To our knowledge, this is the first case presenting with a BD-like phenotype. This case provides further evidence that rare monogenic defects could be the underlying cause of atypical presentations of some well-described disorders. Moreover, this clinical report further expands the phenotypical spectrum of LIG4 deficiency.

Neuropsychiatric involvement in juvenile-onset systemic lupus erythematosus: A multicenter study.

INTRODUCTION: Neuropsychiatric (NP) involvement is a restricted area in juvenile-onset systemic lupus erythematosus (jSLE). AIM: To investigate the prevalence, demographic and clinical features, and outcomes of the neurological involvement in the Turkish jSLE population. METHODS: This study was based upon 24 referral centers' SLE cohorts, multicenter and multidisciplinary network in Turkey. Patient data were collected by a case report form which was standardized for NP definitions according to American Collage of Rheumatology (ACR). Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index (SDI) neuropsychiatric part was used to determine NP damage. Variables were evaluated Ward's hierarchical clustering analyses, univariate, and multivariate logistic regression analyses. RESULTS: A hundred forty-nine of 1107 jSLE patients had NP involvement (13.5%). The most common NPSLE findings were headache (50.3%), seizure (38.3%), and acute confusional state (33.6%). Five clusters were identified with all clinical and laboratory findings. The first two clusters involved neuropathies, demyelinating diseases, aseptic meningitis, and movement disorder. Cluster 3 involved headache, activity markers and other SLE involvements. Idiopathic intracranial hypertension, cerebrovascular disease, cognitive dysfunction, psychiatric disorders and SLE antibodies were in the fourth, and acute confusional state was in the fifth cluster. In multivariate analysis, APA positivity; OR: 2.820, (%95CI: 1.002-7.939), P: 0,050, plasmapheresis; OR: 13.804 (%95CI: 2.785-68.432), P: 0,001, SLEDAI scores; OR: 1.115 (%95CI: (1.049-1.186), P: 0,001 were associated with increased risk for neurologic sequelae. CONCLUSION: We detected the prevalence of juvenile NPSLE manifestations in Turkey. We have identified five clusters that may shed light pathogenesis, treatment and prognosis of NP involvements. We also determined risk factors of neurological sequelae. Our study showed that new definitions NP involvements and sequelae for childhood period are needed.

Comparing polyarteritis nodosa in children and adults: a single center study.

OBJECTIVE: Polyarteritis nodosa (PAN) is a necrotizing vasculitis of medium/small arteries. We aimed to examine the characteristics of adult- and childhood-onset PAN. METHODS: Fifteen pediatric (˂ 18 years) and 22 adult PAN patients who fulfilled the Ankara 2008 and American College of Rheumatology 1990 criteria, respectively, were included in the study. RESULTS: Five children had cutaneous and all the rest of the patients had systemic PAN. Weight loss was more common (59.1% vs. 20%, P = 0.041) and presence of an angiography at diagnosis was more frequent (81.8% vs. 33.3%, P = 0.003) in adults than children. Arthralgia/arthritis and skin involvement were more common in children (86.7% vs. 59.1%; 93.3% vs. 72.7%, respectively) while renal and neurologic involvement were more frequently observed in adult patients (50% vs. 20%; 59.1% vs. 40%, respectively) (P > 0.05 for all). Cutaneous PAN patients were treated with corticosteroids only. All but one adult patient received cyclophosphamide while mycophenolate mofetil was used in five and cyclophosphamide was used in four children as induction treatment. The median duration of induction treatment was longer in adults than children (12 vs. 3 months, respectively; P = 0.004). The most common maintenance drug was mycophenolate mofetil in children and azathioprine in adults. The mortality rate was 13.6% (n = 3) and 0% in adults and children, respectively. CONCLUSION: To our knowledge, this is the first study comparing characteristics of adult and childhood onset PAN. Our results have suggested that juvenile PAN had a more benign course (with less renal and neurologic involvement, shorter duration of induction treatment) than adult onset PAN.