Severe haematological involvement in children with systemic lupus erythematosus and clinical associations.

OBJECTIVES: To investigate the severe haematological involvement in children with SLE and assess its clinical associations, treatments, outcome and damage accrual. METHODS: The medical charts of children with SLE in whom haematological involvement was observed were reviewed. Severe haematological indices were defined as autoimmune haemolytic anaemia with a haemoglobin concentration < 8 g/dL, thrombocyte count < 30 000/µL, and neutrophil count < 500/µL. RESULTS: Among the 224 patients included, 102 (45.5%) displayed severe indices, predominantly at the initial involvement, and most frequently as severe anaemia in 54 (24.1%) and severe thrombocytopenia in 45 (20.1%). Disease activity did not differ according to the presence of severe disease indices. In addition, the presence of severe indices at initial involvement did not affect the damage accrual. However, a higher rate of damage (51.1% vs. 29.9%, p = 0.002) and steroid-induced damage (28.9% vs. 8.2%, p < 0.001) was evident in patients with flares of the haematological system. Regression analysis revealed that rituximab treatment during the initial episode (OR:4.5, p = 0.006) and the presence of anticardiolipin antibodies (OR:2.3, p = 0.014) significantly increases the odds for haematological system flare. However, severe indices at initial involvement did not increase the odds of a haematological flare. CONCLUSION: Severe haematological indices at onset are common but not related with disease outcomes. Prevention of flares is important to improve outcomes, and a more rigorous maintenance strategy would benefit most to children who display haematological indices refractory to conventional immunosuppressants and those with anti-cardiolipin antibodies.

Cardiac evaluation of patients with juvenile dermatomyositis.

BACKGROUND: The present study aims to evaluate possible cardiac involvement in juvenile dermatomyositis (JDM) patients by conventional methods and cardiac magnetic resonance imaging (MRI) along with a systematic review of the literature on cardiac features in JDM. METHODS: The study group consisted of JDM patients who underwent cardiac MRI. We conducted a systematic review of the published literature involving JDM patients with cardiac involvement. RESULTS: In the present study, although baseline cardiologic evaluations including electrocardiography and echocardiography were within normal limits, we showed late gadolinium enhancement on cardiac MRI in 3 of 11 JDM patients. In the literature review, we identified 25 articles related to cardiac involvement in JDM. However, none of them, except one case report, included cardiac MRI of JDM patients. CONCLUSION: Cardiac abnormalities have been reported among the less frequent findings in patients with JDM. Cardiovascular complications during the long-term disease course are a leading cause of morbidity and mortality in these patients. Early detection of cardiac involvement by cardiac MRI in patients with JDM and aggressive treatment of them may improve the clinical course of these patients. IMPACT: The myocardium in patients with JDM may be involved by inflammation. Myocardial involvement may be evaluated by using contrast-enhanced cardiac MRI. This is the first study evaluating cardiac involvement by cardiac MRI in JDM patients. MRI may show early cardiac involvement in patients whose baseline cardiologic evaluations are within normal limits. Early detection of cardiac involvement by cardiac MRI may improve the long-term prognosis of patients with JDM.

Exploring factors for predicting colchicine responsiveness in children with PFAPA.

Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome (PFAPA) are the most common autoinflammatory syndromes in children. This study aimed to evaluate the clinical and laboratory parameters that may predict colchicine responsiveness.This retrospective, multicenter, cross-sectional study involved nine pediatric rheumatology centers from our country., The patients diagnosed with PFAPA were compared on the basis of their responses to colchicine. In the 806 (42.3% female 57.7% male) patients, the most common clinical findings were fever (100%), exudative tonsillitis (86.5%), pharyngitis (80.9%), and aphthous stomatitis (50.5%). The mean attack frequency was 13.5 ± 6.8 attacks per year lasting for a mean of 3.9 ± 1.1 days. Colchicine treatment was attempted in 519 (64.4%) patients, with 419 (80.7%) showing a favorable response. In patients who underwent MEFV gene analysis (70.8%), the most common variant was M694V heterozygous (16.8%). The presence of pharyngitis (p = 0.03, 95% CI 0.885 to 0.994), the presence of arthralgia (p = 0.04, 95% CI 0.169 to 0.958), and having more frequent attacks (p = 0.001, 95% CI 0.028 to 0.748) were found to be associated with colchicine unresponsiveness, whereas the carriage of the M694V variant (p = 0.001, 95% CI 0.065 to 0.242) was associated with colchicine responsiveness. CONCLUSION: This study identified the presence of pharyngitis, arthralgia, and increased attack frequency in patients with PFAPA as factors predicting colchicine unresponsiveness, whereas the carriage of the M694V variant emerged as a predictor of colchicine responsiveness. Predicting colchicine response at disease onset may facilitate a more effective management of PFAPA. WHAT IS KNOWN: • Colchicine treatment can be used in the prophylaxis of PFAPA disease. • Having the MEFV variant is the most commonly known factor in predicting response to colchicine. WHAT IS NEW: • The presence of pharyngitis or arthralgia, and more frequent attacks in PFAPA disease were found to be independently associated with colchicine unresponsiveness. • Carrying the M694V variant was identified as the sole factor predicting colchicine responsiveness.

The Association of Behçet's Disease on the Quality of Life for Children and Their Parents.

Background and Aim Chronic diseases profoundly 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 pediatric BD patients and their parents. Methods We included pediatric BD patients meeting the pediatric BD classification criteria in a cross-sectional study conducted from June to December 2022. We recorded patients' clinical characteristics and assessed their QoL using PedsQL. Parents' QoL was evaluated using WHOQOL-Bref. Results The study involved 38 patients (60.5% girls, 39.5% boys) with a median age of 15.5 years (10-17) and a disease duration of 2 years (1-4) and their 38 parents. All patients exhibited oral aphthae, and many had other mucocutaneous findings: genital ulcers (78.9%), pseudofolliculitis (76.3%), and erythema nodosum (23.6%). Some patients had uveitis (13.1%), vascular (13.1%), neurological (10.5%), and gastrointestinal (5.2%) involvement. All patients were in remission under treatment during the study. Median PedsQL scores for total, physical health, and psychosocial health were 74.5(40-94.8), 76.5(43-100), and 75(25-92), respectively, with 14 patients scoring below the cut-off value. Girls had lower physical health scores than boys (p=0.004), and a negative correlation emerged between disease duration and PedsQL score (r=0.648, p=0.001). The median WHOQOL score among parents was 50(25-100), with 20 scoring below the cut-off value. Conclusion The QoL was low for one-third of children with pediatric BD and more than half of their parents.Similar to numerous chronic illnesses, factors such as the duration of the disease and gender were associated with the QoL in pediatric BD.

Endoscopic characterization of gastrointestinal manifestations in children with undifferentiated recurrent fever.

BACKGROUND AND STUDY AIMS: Systemic autoinflammatory diseases are characterized by recurrent or chronic inflammation, and monogenic forms are increasingly defined. However, a group of patients without genetic diagnosis is called the syndrome of undifferentiated recurrent fever (SURF). This study analyzed the clinical and endoscopic features of patients with SURF presenting with gastrointestinal (GI) symptoms. PATIENTS AND METHODS: Between 2019 and 2022, GI endoscopy were performed in patients with SURF who presented with GI symptoms. Clinical, genetic, laboratory, and endoscopy findings were analyzed. RESULTS: Fifteen patients were included in the study, eight (53.3 %) were girls. The mean age was 10.5 ± 5.80 years, and the median age at symptom onset was 4 (0.3-16) years. All patients experienced fever and abdominal pain. Thirteen patients (86.7 %) experienced diarrhea, 11 (73.3 %) reported myalgia, and 10 (66.7 %) had joint involvement. Lymphoid follicles in the terminal ileum mucosa were detected in 10 patients (66.7 %), and nodular lymphoid hyperplasia in the terminal ileum was the histopathological finding in 12 patients (80 %). CONCLUSIONS: The current study found that patients with SURF experiencing gastrointestinal symptoms have excessive lymph node formation in the terminal ileal mucosa due to an exaggerated inflammatory response. This may be the cause of their GI symptoms.

Retrospective evaluation of 130 cases with kawasaki disease follow-up in a tertiary care center in Turkey between 1999 and 2019: a 20-year experience.

OBJECTIVES: Kawasaki disease (KD), which is a medium vessel vasculitis, is common in Asian countries and is the most common cause of childhood-acquired heart diseases in developed countries. However, disease course and epidemiological data are limited in non-Asian developing countries like ours. We aimed to evaluate the clinical features and prognosis of patients with KD in our country and ethnicity, one of the referee centers of our country. METHODS: Patients with KD in our center for the last 20 years in the pre-COVID-19 pandemic era were included in the study. The clinical and laboratory findings, treatments, and follow-up findings were reviewed retrospectively in different age groups. RESULTS: Of the 130 patients, 82 (63%) were male. The median age at diagnosis was 2.97 years (2 months-11.5 years). Thirty-six (27.7%) patients were diagnosed with incomplete KD, and there was no significant laboratory difference between incomplete KD and complete KD patients. Thirty-three (25.3%) patients had coronary artery lesions (CAL), and it persisted in only 3 of 33 patients. One of 15 patients with IVIG resistance had CAL. The independent risk factors were days of illness at initial IVIG administration for CAL (p = 0.013, OR [95%CI] = 1.20 [1.04-1.38]) and low hemoglobin (p = 0.003, OR [95%CI] = 0.51 [0.33-0.79]) and low sodium for IVIG resistance (p = 0.012, OR [95%CI] = 0.81[0.69-0.95]). CONCLUSIONS: The rate of CAL is approximately three times higher in our results than in the Japanese data in recent years. We showed that the time of IVIG administration is the most critical factor for preventing CAL. Wide-ranging studies are needed to decently predict the disease process according to the age and region of patients.

Retinal vessel density and choroidal flow changes in oligoarticular juvenile idiopathic arthritis with and without uveitis.

PURPOSE: This cross-sectional optical coherence tomography angiography (OCTA) study aimed to assess the macular and optic nerve head (ONH) vascular density, foveal avascular zone, and outer retina and choriocapillaris flow in oligoarticular juvenile idiopathic arthritis (oJIA). STUDY DESIGN: Prospective. METHODS: Twenty-two eyes of 22 oJIA patients with uveitis (oJIA-U), 20 eyes of 20 oJIA patients without uveitis (isolated oJIA), and 26 healthy volunteers of similar ages and sexes were investigated. The superficial capillary plexus (SCP) and deep capillary plexus (DCP), ONH, foveal avascular zone (FAZ) parameters, the flow area of the outer retina, and choriocapillaris were evaluated. RESULTS: Compared with the control group, both the oJIA-U group and isolated oJIA group showed significantly decreased vessel density of parafovea (p = 0.031 and p = 0.047, respectively) in DCP. Choriocapillaris flow area at 1 mm radius was significantly lower in the oJIA-U group compared to the control group (p = 0.001). Choriocapillaris flow area at 2- and 3-mm radius were significantly lower in the oJIA-U group compared to the control group (p < 0.001, for both) and isolated oJIA-U group compared to the control group (p = 0.008 and p = 0.001, respectively). The VD and thickness parameters of SCP and ONH, FAZ, and outer retina flow area were similar between the groups. CONCLUSIONS: oJIA patients with and without uveitis revealed a decreased vessel density in the deep parafoveal region and choriocapillaris flow. Our findings suggest that retinal choroidal microvascular changes could be evident in oJIA-U patients without posterior segment involvement as well as oJIA patients without uveitis.

Towards a standardized program of transitional care for adolescents with juvenile idiopathic arthritis for Turkey: a national survey study.

BACKGROUND: Juvenile idiopathic arthritis (JIA) is a prevalent childhood chronic arthritis, often persisting into adulthood. Effective transitional care becomes crucial as these patients transition from pediatric to adult healthcare systems. Despite the concept of transitional care being recognized, its real-world implementation remains inadequately explored. This study aims to evaluate the thoughts and practices of healthcare providers regarding transitional care for JIA patients. METHODS: A cross-sectional survey was conducted among pediatric and adult rheumatologists in Turkey. Based on the American Academy of Pediatrics' six core elements of transitional care, the survey included 86 questions. The respondents' demographic data, attitudes towards transitional care, and practical implementation were assessed. RESULTS: The survey included 48 rheumatologists, with 43.7% having a transition clinic. The main barriers to establishing transition programs were the absence of adult rheumatologists, lack of time, and financial constraints. Only 23.8% had a multidisciplinary team for transition care. Participants agreed on the importance of coordination and cooperation between pediatric and adult healthcare services. The timing of the transition process varied, with no consensus on when to initiate or complete it. Participants advocated for validated questionnaires adapted to local conditions to assess transition readiness. CONCLUSIONS: The study sheds light on the challenges and perspectives surrounding transitional care for JIA patients in Turkey. Despite recognized needs and intentions, practical implementation remains limited due to various barriers. Cultural factors and resource constraints affect the transition process. While acknowledging the existing shortcomings, the research serves as a ground for further efforts to improve transitional care and ensure better outcomes for JIA patients transitioning into adulthood.