Unveiling Cardiac Involvement in Juvenile Dermatomyositis Through Speckle-Tracking Echocardiography.

Early detection of cardiac involvement in Juvenile Dermatomyositis (JDM) is difficult due to the absence of clinical signs and symptoms, with systolic dysfunction often emerging in late stages and associated with a poor prognosis. This study aimed to employ two-dimensional speckle-tracking echocardiography (STE) for subclinical assessment of left ventricular (LV) systolic failure in JDM and explore potential associations between impaired LV systolic function (LV-GLS) and disease activity. A prospective study enrolled 20 healthy volunteers and 26 JDM patients (< 18 years old) without cardiac symptoms. Clinical data were collected from medical records, and echocardiograms were conducted by a pediatric cardiologist. Our study cohort demonstrated similar age to controls (13.5 ± .6 vs. 13.8 ± 4.7; p = 0.465). Median illness duration at echocardiography was 5 (1.5-17.5) years, and conventional echocardiography indicated normal LV ejection fraction (> 55%) in all participants. However, STE revealed lowered LV GLS in JDM patients (- 22.2 ± 4.1% vs. - 26.5 ± 5.3% p = 0.022). Pulse steroid users displayed lower GLS average values compared to non-users (ß = 4.99, 95% CI 1.34-8.64, p = 0.009). Negative correlations existed between LV-GLS and age at diagnosis (r = - 0.499; p = 0.011), diastolic parameters (E/E' ratio) and age at diagnosis (r = - 0.469; p = 0.018), as well as RV global strain and age at diagnosis (r = - 0.443; p = 0.024). Employing STE in JDM patients facilitated the identification of preclinical cardiac dysfunction. Given JDM patients' younger age, early myocardial damage detection through STE may impact treatment decisions and long-term cardiovascular prognosis.

Impact of serological activity on flare following clinically inactive disease and remission in childhood-onset systemic lupus erythematosus.

OBJECTIVES: To assess the association between serological activity (SA) and clinical inactivity in SLE and to investigate whether SA predicts flare after clinically inactive disease (CID) and remission. METHODS: Longitudinal data of children from 3 paediatric rheumatology referral centres were retrospectively reviewed. CID was defined as clinical SLEDAI = 0 in patients with a prednisolone dose < 15 mg/day. A modified DORIS remission on treatment criteria was used to determine remission. RESULTS: Of the 124 patients included, 89.5% displayed SA at onset. Through follow-up, the rate of SA decreased to 43.3% at first CID and 12.1% at remission. Among patients with CID, 24 (20.7%) experienced a moderate to severe flare before the attainment ofremission. While previous proliferative lupus nephritis (OR : 10.2, p: 0.01) and autoimmune haemolytic anaemia (OR : 6.4, p: 0.02) were significantly associated with an increased odds of flare after CID, SA at CID was not associated with flare. In contrast, 21 (19.6%) patients experienced a flare in a median of 18 months after remission. Hypocomplementemia (OR : 9.8, p: 0.02) and a daily hydroxychloroquine dose < 5 mg/kg (OR : 5.8, p: 0.02) at remission significantly increased the odds of flare. CONCLUSION: SA increases the odds of flare at remission but not at CID. Suboptimal dosing of hydroxychloroquine should be avoided, especially in children with SA in remission to lower the risk of flares.

Gray zone in the spectrum of autoinflammatory diseases: familial Mediterranean fever accompanying periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome: single-center experience.

Despite the advanced knowledge concerning autoinflammatory diseases (AID), more data regarding the optimal treatment options and outcomes of the children who met the criteria of more than one AID are required. This study aimed to describe the demographic and clinical characteristics of children from familial Mediterranean fever (FMF)-endemic countries who meet both the FMF and the periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome criteria. Moreover, we aimed to measure the response rates to colchicine and tonsillectomy and evaluate the factors affecting the colchicine response in these patients. The study was conducted at pediatric rheumatology tertiary centre. A total of 131 patients (58 females; 73 males) who met both the modified Marshall and pediatric FMF criteria were included. The median age at onset was 18 months (1-77 months), and the mean age at diagnosis was 47 ± 21.88 months. The median interval between episodes was 21 (7-90) days. The median disease duration was 46 (6-128) months. Consanguineous marriage was detected in 17 (13%) of the patients. The most common clinical finding was fever (100%), followed by exudative pharyngitis (88.5%), abdominal pain (86.3%), arthralgia (61.8%), stomatitis (51.1%), adenitis (42%), myalgia (28.7%), chest pain (16%), maculopapular rash (12.2%), arthritis (8.4%), and erysipelas-like rash (4.6%). MEFV gene variants were identified in 106 (80.9%) patients. The most common variants were M694V heterozygous (29%). We found that patients with tonsillopharyngitis, aphthous stomatitis, and PFAPA family history were more likely to be colchicine-resistant and tonsillectomy responsive, while those with exon 10 MEFV gene mutations were more prone to have a favorable response to colchicine.     Conclusion: PFAPA syndrome patients with exon 10 MEFV gene mutation, showing typical FMF symptoms, should be treated with colchicine, even after tonsillectomy. In multivariate analysis, PFAPA family history and lack of exon 10 MEFV gene mutations were independent risk factors for colchicine resistance. Thus, tonsillectomy may be recommended as a possible treatment option for these patients. It has yet to be clarified when colchicine treatment will be discontinued in patients whose attacks ceased after tonsillectomy that was performed due to colchicine unresponsiveness. What is Known: • A certain number of patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome concomitantly fulfill the familial Mediterranean fever (FMF) criteria. • While colchicine is proposed as a first treatment choice in familial Mediterranean fever (FMF), corticosteroids are recommended as a first-line treatment in PFAPA syndrome patients. What is New: • In patients with concomitant PFAPA syndrome and FMF, PFAPA family history and lack of exon 10 MEFV gene mutation are predictive factors of colchicine resistance. • The presence of exon 10 MEFV gene mutations in patients with concomitant FMF and PFAPA syndrome has a favourable effect on response to colchicine treatment.

The efficacy of a single-dose anakinra injection during disease attack in pediatric familial Mediterranean fever.

The aim of this retrospective study is to evaluate the efficacy of a single-dose anakinra during familial Mediterranean fever (FMF) attacks and its effect on the duration, severity, and frequency of attacks. The patients with FMF who had disease episode and received a single-dose anakinra during disease episode between December 2020 and May 2022 were included. Demographic characteristics, MEFV gene variants detected, concomitant medical conditions, demographics of recent and previous episodes, laboratory findings and length of hospital stay were recorded. A retrospective analysis of medical records revealed 79 attacks from 68 patients who met inclusion criteria. The patients had a median age of 13 (2.5-25) years. All patients reported that the average duration of their previous episodes lasted longer than 24 h. When the recovery time of attacks after subcutaneous anakinra application at the disease attack was examined, it was observed that 4 attacks (5.1%) ended in 10 min; 10 attacks (12.7%) in 10-30 min; 29 attacks (36.7%) in 30-60 min; 28 attacks (35.4%) in 1-4 h; 4 attacks (5.1%) in 24 h; and 4 attacks (5.1%) ended in more than 24 h. There was no patient who did not recover from their attack after a single dose of anakinra. Although the efficacy of a single-dose anakinra administration during FMF attacks in children needs to be confirmed by prospective studies, our results suggest that use of a single-dose anakinra during FMF attacks is effective in reduction of severity and duration of disease attacks.

Quality of life of children with allergic disease: the effect of depression and anxiety of children and their mothers.

INTRODUCTION: In comparison with the general population, several studies have reported higher anxiety and depression rates not only in children with allergic diseases but also in their parents. We aimed to evaluate the mental health of children and their mothers affecting quality of life (QoL) in children with allergic diseases, and to compare anxiety and depression in these patients and their mothers with the general population. METHODS: One hundred and sixty-eight patients aged 8-18 years diagnosed with an allergic disease who visited our outpatient clinic and a control group of 61 children who did not have any chronic or allergic diseases were included in the study. Patients completed the Pediatric QoL Inventory, Trait Anxiety Inventory for Children, and Children's Depression Inventory, while mothers completed the General Anxiety Disorder-7 (GAD-7) scale and the Patient Health Questionnaire-9 (PHQ-9). Independent samples' t-test was used to compare children's QoL, trait anxiety, and depression scores and mothers' GAD-7 and PHQ-9 scores between the controlled/mild and uncontrolled/moderate-severe groups. The effects of age, gender, disease severity, maternal depression/anxiety, and children's depression/anxiety on QoL were analyzed with multivariate regression analyses. RESULTS: QoL was lower in children with allergic diseases than healthy children, and although the mean QoL score was lower in the group with high disease severity, QoL in children with allergic diseases was not associated with disease severity but inversely related to anxiety/depression and maternal depression. CONCLUSIONS: As per the results, QoL is impaired in children with allergic diseases. Both anxiety/depression in the child and maternal depression may adversely affect QoL in these patients.

Health conditions of first-degree relatives of children with familial Mediterranean fever.

BACKGROUND: Given the strong genetic background of familial Mediterranean fever (FMF), the frequently reported co-existing diseases in children with FMF should also be investigated in other family members. Therefore, we aimed to examine the medical conditions of first-degree relatives (FDRs) of our pediatric patients with FMF in the present study. METHODS: Chronic diseases of FDRs of pediatric 449 FMF, 147 juvenile idiopathic arthritis (JIA) patients and 93 healthy controls (HC) were questioned during their routine clinical visits for 9 consecutive months. RESULTS: A total of 1975 FDRs of 449 FMF, 690 FDRs of 147 JIA patients, and 406 FDRs of 93 HC were included into the study. The most common medical conditions were non-atopic asthma (n=71, 3.6%), type 2 DM (n=14, 2%), and tonsillectomy history (n=12, 2.95%) in the FMF, JIA, and HC groups, respectively. Atopic diseases (FMF vs. JIA: p=0.013; FMF vs. HC: p=0.014), rheumatic diseases (FMF vs. JIA: p=0.030; FMF vs. HC: p=0.017), and surgical histories (FMF vs. JIA: p<0.01; FMF vs. HC: p=0.026), including adenoidectomy, tonsillectomy, and appendectomy, were significantly more common in the FMF group than in other groups. CONCLUSIONS: Our novel findings may contribute to understanding the hereditary burden of co-existing diseases in children with FMF and encourage further studies involving genetic screenings.

Ovarian reserve in children with juvenile idiopathic arthritis using biologic disease-modifying anti-rheumatic drugs.

BACKGROUND/OBJECTIVES: The aim of the study is to assess the effect of juvenile idiopathic arthritis (JIA) and biologic disease-modifying anti-rheumatic drugs (bDMARDs) on ovarian reserve in children. MATERIALS AND METHODS: A cross-sectional study was performed from March 2021 to March 2022 and included 81 patients with JIA and 49 healthy children. Serum anti-Mullerian hormone (AMH), follicle-stimulating hormone (FSH), luteinizing hormone (LH), and estradiol levels were analyzed using electrochemiluminescence methods. RESULTS: The mean of current age (13.5 ± 3.2 vs. 14.4 ± 2.4 years), height standard deviation score (SDS) (- 0.35 ± 1.18 vs. - 0.44 ± 0.94), body mass index SDS (0.12 ± 1.33 vs. 0.25 ± 1.28), and the median weight SDS (- 0.13 (- 2.27-3.23) vs. - 0.52 (- 3.4-3.3)) were similar in JIA patients and controls (p > 0.05). Patients with JIA were divided into two groups according to their treatment regimens: treated with methotrexate (MTX) (biologic naive) (n = 32) and treated with MTX plus bDMARDs (n = 49). No significant differences were detected between the 3 groups regarding menarche age, menstrual cycle length, and flow duration (for all p > 0.05). The median serum concentration of AMH was 2.94 (1.12-7.88) ng/ml in the control group, 3.02 (0.36-8.54) ng/ml in the biologic naïve group, and 3.01 (0.99-8.26) ng/ml in the MTX plus bDMARD group. There were no significant differences between 3 groups according to serum AMH, FSH, LH, and estradiol levels (p > 0.05). CONCLUSION: Biologic DMARDs are reassuring in terms of ovarian reserve in girls with JIA and demonstrate that AMH is unaffected by treatment. Prospective studies with larger sample sizes are needed to confirm our findings and to evaluate the impact on the future fertility of patients. Key Points • Although biologic disease-modifying anti-rheumatic drugs (bDMARDs) are being game-changing treatment options in juvenile idiopathic arthritis, their effect on fertility and ovarian reserve is one of the most discussed issues. • In addition to treatment used, autoimmune diseases might also have a negative effect on fertility. • In this cross-sectional study, we found that anti-Mullerian hormone level of patients who were on bDMARDs, patients who were on methotrexate, and healthy controls were similar. • Our results suggest that bDMARDs are reassuring in terms of ovarian reserve in girls with JIA and demonstrate that AMH is unaffected by treatment.

COVID-19 vaccination rates and factors affecting vaccination in children with rheumatic disease.

Objectives: This study aimed to investigate coronavirus disease 2019 (COVID-19) vaccination rates and factors affecting vaccination in children with rheumatic diseases. Patients and methods: This multicenter cross-sectional survey-based study was conducted between July 2022 and September 2022. Four hundred seventy-four patients (256 females, 218 males; median age: 15 years; interquartile range, 13 to 16 years) were included in the patient group, and 211 healthy children (124 females, 87 males; median age: 15 years; interquartile range, 13 to 16 years) were included in the control group. A questionnaire was administered to the parents face-to-face during routine outpatient visits. Results: Of the patients, 220 were followed up with the diagnosis of autoinflammatory disease, 174 with juvenile idiopathic arthritis, 48 with connective tissue disease, 23 with vasculitis, eight with uveitis, and one with sarcoidosis. In the study group, 256 (54%) patients and 115 (54.5%) healthy children received at least one dose of COVID-19 vaccine. Parents' concern regarding potential side effects of the vaccine was the most common reason for COVID-19 vaccination hesitancy in both groups. The median patient age, follow-up period, colchicine treatment rates, childhood vaccination and influenza vaccination rates, median parental age, parental vaccination rate, and parental education level were higher in vaccinated patients (p<0.001). Conclusion: Parents' concerns about safety and side effects were found to be the most important factors affecting vaccination success. Identification of the underlying causes of parental vaccine hesitancy will facilitate the development of effective vaccination strategies for potential future outbreaks.

Type I Interferonopathies in Childhood.

Type 1 interferonopathy is a novel context reflecting a group of inborn disorders sharing common pathway disturbances. This group of diseases is characterized by autoimmunity and autoinflammation caused by an upregulation of type 1 interferons (IFN)s due to certain genetic mutations. Several features are common in most of the diseases in this group, such as vasculitic skin changes, including chilblains, panniculitis, interstitial lung disease, basal ganglion calcifications, neuromotor impairments, epilepsy, stroke, and recurrent fever. Family history and consanguineous marriage are also common. IFN signature is a useful diagnostic tool and is positive in almost all patients with type 1 interferonopathies. Although IFN signature is a sensitive test, its specificity is relatively low. It can also be positive in viral infections and several connective tissue diseases. Therefore, next-generation sequence methods, whole exome sequencing (WES) in particular, are required for the ultimate diagnosis. The optimal treatment regime is still under debate due to a lack of clinical trials. Although high-dose steroids, anti-IL-1 and anti-IL-6 treatments, and reverse transcriptase inhibitors are used, JAK inhibitors are highly promising. Additionally, monoclonal antibodies against IFN-alpha and interferon-α receptor (IFNAR) are currently underway.

Non-Rheumatic Chronic Comorbidities in Children with Juvenile Idiopathic Arthritis.

OBJECTIVE: Juvenile idiopathic arthritis is a heterogeneous group of disorders and is the most common rheumatic condition in childhood. There are scarce data regarding all comorbidities in juvenile idiopathic arthritis patients. MATERIALS AND METHODS: We aimed to identify the non-rheumatic comorbidities in our juvenile idiopathic arthritis patients. Data were obtained cross-sectionally from the medical records and the face-to-face interviews for 6 consecutive months. Those with more than 1 rheumatic disease were excluded, and conditions that were highly related to the disease, such as uveitis, were not taken into account. RESULTS: The study included 459 patients with female dominance (62.1%, n = 285). The median age of the patients was 12.87 (1.53-20.95) years. One hundred fifty patients (32.7%) had at least 1 comorbidity (5 patients had 3 comorbidities, and 24 patients had 2 comorbidities). The most common 3 non-rheumatic accompanying medical conditions in our patients were allergic rhinitis (n = 37, 8.1%), attention-deficit hyperactivity disorder (n = 35, 7.6%), and atopic dermatitis (n = 28, 6.1%). None of our patients with systemic JIA had any autoimmune disease. All the patients with primary immune deficiencies had anti-nuclear antibody positivity. CONCLUSION: Almost one-third of our patients had at least one comorbidity. This finding might be very helpful to us in planning our multi-disciplinary approach to our patients.

Does the clerkship/internship in psychiatry affect medical students' level of knowledge about schizophrenia, attitudes, and beliefs toward schizophrenia and other mental disorders?

Undergraduate medical students' attitudes and beliefs toward mental illnesses are a crucial phenomenon as these students will be care providers of the future. The current study aimed to analyze whether the psychiatry clerkship/internship affects these students' level of knowledge about schizophrenia as well as their attitudes and beliefs toward schizophrenia and other mental illnesses. A total of 158 medical students, 92 in their fifth year and 66 in their sixth year, were included in the study. The participants completed the Knowledge About Schizophrenia Questionnaire (KASQ), Beliefs toward Mental Illness Scale (BMI), and Attitudes toward People with Mental Disorders Scale (APMDS) before and after the psychiatry clerkship/internship. The KASQ and APMDS total scores were significantly higher whereas BMI and BMI-Dangerousness subscale scores were significantly lower after the clerkship/internship in psychiatry. Postclerkship/internship KASQ total scores were negatively correlated with BMI total scores and BMI-Dangerousness subscale scores. Additionally, BMI total scores and APMDS total scores were also negatively correlated. Although the change in KASQ scores was significantly associated with the decrease in BMI total scores after the clerkship/internship, it was not associated with the increase in APMDS total score in the hierarchical multiple linear regression analysis. In conclusion, the present study revealed that knowledge about schizophrenia and attitudes and beliefs toward mental illnesses improved significantly after the clerkship/internship in psychiatry. While improvement in medical students' knowledge about schizophrenia and mental illnesses is a predictor of the decrease in negative beliefs about mental illnesses, a similar relationship was not found regarding attitudes. This study not only provides information about the relationship between knowledge about schizophrenia and attitudes and beliefs about mental illness but also highlights the need to consider the multifactorial nature of attitudes when developing intervention programs for medical students.

Analysis of 24-Hour Heart Rate Variability among Panic Disorder Patients without Previous Drug Treatment and Comorbid Disorders. / Psikotrop Ilaç Kullanimi, Baska Tibbi Hastaligi ve Psikiyatrik Es Tanisi Olmayan Panik Bozuklugu Hastalarinda 24 Saatlik Kalp Hizi Degiskenliginin Degerlendirilmesi.

OBJECTIVE: One of the METHODS used to assess autonomic nervous system dysfunction in the etiology of panic disorder (PD) is heart rate variability (HRV). HRV is controlled by the sympathetic and parasympathetic (vagal) branches of the autonomic nervous system and reflects the capacity of autonomic stimulation by the parasympathetic system. The aim of this study was to evaluate heart rate variability (HRV) time domain parameters based on twenty four hour holter ECG analysis among drug-naive patients with panic disorder (PD) without any other medical and psychiatric comorbidity. METHOD: The study group consisted of 41 patients with PD and 46 healthy controls. Participants were evaluated with SCID-1 for psychiatric diagnoses. Then Hamilton Depression Rating Scale (HDRS), Hamilton Anxiety Rating Scale (HARS), Panic Disorder Severity Scale (PDSS) and Clinical Global Impression Scale (CGI-S) were applied to participants. Twenty four hour Holter ECG outcomes were analyzed on a computer program and time domain parameters were evaluated. RESULTS: Among the parameters analyzed from HRV, SDANN was significantly higher (p <0.001); duration of RMSSD, NN50 and pNN50 were lower in PD group than the control group (p = 0.003, p = 0.005, p = 0.047, respectively). In the correlation analysis, there was a moderate negative correlation between CGI-S and NN50 and pNN50. In logistic regression analysis, the increase in SDNN was found to increase the probability of PD by 1.11 (95% CI, 1.010-1.209); the increase in SDANN was found to decrease the probability of PD by 0.892 (95% CI, 0.818-0.973), and the increase in pNN50 was found to decrease the probability of PD by 0.523 (95% CI, 0.342-0.801). CONCLUSION: The data obtained in our study confirm that there is a decrease in some HRV parameters like RMSSD, NN50 and pNN50 reflecting parasympathetic activity among patients with PD.