Reliability of a generative artificial intelligence tool for pediatric familial Mediterranean fever: insights from a multicentre expert survey.

BACKGROUND: Artificial intelligence (AI) has become a popular tool for clinical and research use in the medical field. The aim of this study was to evaluate the accuracy and reliability of a generative AI tool on pediatric familial Mediterranean fever (FMF). METHODS: Fifteen questions repeated thrice on pediatric FMF were prompted to the popular generative AI tool Microsoft Copilot with Chat-GPT 4.0. Nine pediatric rheumatology experts rated response accuracy with a blinded mechanism using a Likert-like scale with values from 1 to 5. RESULTS: Median values for overall responses at the initial assessment ranged from 2.00 to 5.00. During the second assessment, median values spanned from 2.00 to 4.00, while for the third assessment, they ranged from 3.00 to 4.00. Intra-rater variability showed poor to moderate agreement (intraclass correlation coefficient range: -0.151 to 0.534). A diminishing level of agreement among experts over time was documented, as highlighted by Krippendorff's alpha coefficient values, ranging from 0.136 (at the first response) to 0.132 (at the second response) to 0.089 (at the third response). Lastly, experts displayed varying levels of trust in AI pre- and post-survey. CONCLUSIONS: AI has promising implications in pediatric rheumatology, including early diagnosis and management optimization, but challenges persist due to uncertain information reliability and the lack of expert validation. Our survey revealed considerable inaccuracies and incompleteness in AI-generated responses regarding FMF, with poor intra- and extra-rater reliability. Human validation remains crucial in managing AI-generated medical information.

The psychophysical impact of COVID-19 lockdown on pediatric patients with rheumatological disease.

BACKGROUND: COVID-19 was declared a pandemic on 11 March 2020 and unprecedented containment measures were taken to limit its spreading. These exceptional measures may have an impact on the mental health of the population. OBJECTIVES: We hypothesize that children with the rheumatological chronic disease might be a population at higher risk of psychological distress. DESIGN: This study evaluated the psychological effect of social distancing in pediatric rheumatological patients and its possible correlation with disease relapse. SETTING: Pediatric patients diagnosed with juvenile idiopathic arthritis (JIA) were included in the study. SUBJECTS AND METHODS: They completed the Multidimensional Anxiety Scale for Children (MASC-2) to assess anxious symptoms, the Children Depression Inventory Self Report (CDI-2 SR) for depression symptoms and a semi-structured questionnaire to collect their activities. Their parents completed the Children Depression Inventory 2 Parent (CDI-2 P). RESULTS: The MASC-2 test showed high values in anxiety factors. The CDI-2 SR test showed high values for Ineffectiveness and Functional Problems. The CDI-2 P showed high values for Emotional Problems factor. All the patients with high level of depression were females. The result is that those who take therapy were younger, have reduced values in Functional Problems and in Social Anxiety. 47% of the sample had disease relapse. CONCLUSIONS: During the COVID-19 period of isolation, in patients with JIA, there was an increase in anxious and depressive symptoms in female adolescents, a tendency to disease relapse, despite generally good compliance to therapy. Those under treatment were younger and showed reduced values in Functional Problems, Social Anxiety, and Humiliation/Rejection. LIMITATIONS: Limited number of patients to whom questionnaires could be distributed.

Acrocyanosis in a large italian pediatric series during the Covid-19 pandemic.

BACKGROUND: SARS-CoV2 infection may present at onset with cutaneous manifestations as chilblains, pernio-like lesions characterized by rapid onset, itching, pain and tenderness and quick improvement with re-warming as similarly observed in primary acrocyanosis. The purpose of the present study was to detect in a single institution series of pediatric patients, during COVID-19 pandemic, the prevalence of acrocyanosis compared to previous period and an eventual correlation with SARS-Cov2 (Severe Acute Respiratory Syndrome Coronavirus 2) infection or other secondary etiologies of this disorder. METHODS: We retrospectively analyzed the prevalence of pediatric patients with acrocyanosis between January 2020 and July 2021, compared to the same period of previous year. All patients were investigated with capillaroscopies, clinical and laboratory texts. Those patients referred to our Institution, during the Covid-19 pandemic were also examined for SARS-CoV2 serologies to find out an eventual specific correlation with this secondary potential etiology. RESULTS: During the first wave of Covid-19 pandemic we observed an increased prevalence of this manifestation. The analysis showed that the higher prevalence of patients with acrocyanosis, in this period, was not related to SARS-Cov2 infection. CONCLUSIONS: The acrocyanosis in pediatric patients is rarely associated with rheumatological diseases, being more frequently a primary disorder and strictly related to a sedentary lifestyle.

The Use of Antigenic SARS-CoV-2 Point-of-Care Test: The Italian Pediatric Real-Life Experience.

In Italy, during the second epidemic wave of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), rapid antigenic (Ag) test at point-of-care (POCT) station were employed to quickly evaluate large numbers of swabs. We collected data of all children who underwent the Ag test in our hospital. All positive patients were recalled to perform reverse transcription polymerase chain reaction. A total of 2133 tests were collected over 1 month. Clinical data of 1941 children (median age = 3.7 years) were analyzed: 1343 (69.2%) patients complained of symptoms, 594 (30.6%) had a history of close contact with SARS-CoV-2-positive individuals. Among symptoms reported, acute rhinitis was the most frequent (67.9%), followed by cough (42.6%) and fever (31.5%). Among all tests, 95.8% resulted negative, 4.2% positive: 37/89 were confirmed. In confirmed cases, fever (56.2% vs 32.2%; P = .041) and gastrointestinal symptoms (18.8% vs 6.25%; P = .041) were significantly more frequent compared with negative children. The use of POCT for Ag test seems appropriate for SARS-CoV-2 screening in the pediatric population. In children, fever and gastrointestinal symptoms may constitute red flags of SARS-CoV-2.

Musculoskeletal manifestations of childhood cancer and differential diagnosis with juvenile idiopathic arthritis (ONCOREUM): a multicentre, cross-sectional study.

BACKGROUND: Presenting symptoms of childhood cancers might mimic those of rheumatic diseases. However, the evidence available to guide differential diagnosis remains scarce. Preventing wrong or delayed diagnosis is therefore important to avoid incorrect administration of glucocorticoid or immunosuppressive therapy and worsening of prognosis. As such, we aimed to assess the prevalence and characteristics of presenting musculoskeletal manifestations in patients at cancer onset and to identify the factors that differentiate childhood malignancies with arthropathy from juvenile idiopathic arthritis. METHODS: We did a multicentre, cross-sectional study at 25 paediatric haemato-oncology centres and 22 paediatric rheumatology centres in Italy. We prospectively recruited patients who were younger than 16 years that were newly diagnosed with cancer or juvenile idiopathic arthritis. We excluded patients with glucocorticoid pre-treatment (>1 mg/kg per day of oral prednisone or equivalent for ≥2 consecutive weeks). We collected data for patients with a new diagnosis of cancer or juvenile idiopathic arthritis using an electronic case report form on a web-based platform powered by the Cineca Interuniversity Consortium. The primary outcome was to describe the frequency and characteristics of musculoskeletal manifestations at cancer onset; and the secondary outcome was to identify factors that could discriminate malignancies presenting with arthropathy, with or without other musculoskeletal symptoms, from juvenile idiopathic arthritis using multivariable logistic regression analysis. FINDINGS: Between May 1, 2015, and May 31, 2018, 1957 patients were eligible, of which 1277 (65%) had cancer and 680 (35%) had juvenile idiopathic arthritis. Musculoskeletal symptoms occurred in 324 (25% [95% CI 23·0-27·8]) of 1277 patients with cancer, of whom 207 had arthropathy. Patients with malignant bone tumours had the highest frequency of musculoskeletal symptoms (53 [80%] of 66), followed by patients with Langerhans histiocytosis (16 [47%] of 34), leukaemia (189 [32%] of 582), soft-tissue sarcomas (16 [24%] of 68), and neuroblastoma (21 [19%] of 109). In the 324 patients with cancer and musculoskeletal symptoms, the most common complaints were joint pain (199 [61%]), followed by limb bone pain (112 [35%]). Joint involvement had a prevalent monoarticular pattern (100 [48%] of 207) and oligoarticular pattern (86 [42%] had 2-4 joints involved and 20 [10%] had >4 joints involved), with the most frequently involved joints being the hip (88 [43%] of 207) and knee (81 [39%]). On multivariable analysis, limb bone pain was the independent variable most strongly associated with cancer (odds ratio [OR] 87·80 [95% CI 18·89-408·12]), followed by weight loss (59·88 [6·34-565·53]), thrombocytopenia (12·67 [2·40-66·92]), monoarticular involvement (11·30 [4·09-31·19]), hip involvement (3·30 [1·13-9·61]), and male sex (2·40 [1·03-5·58]). Factors independently associated with juvenile idiopathic arthritis were morning stiffness (OR 0·04 [95% CI 0·01-0·20]), joint swelling (0·03 [0·01-0·09]), and involvement of the small hand joints (0·02 [0-1·05]). INTERPRETATION: Our study provides detailed information about presenting musculoskeletal manifestations of childhood cancers and highlights the clinical and laboratory features that are most helpful in the differential diagnosis with juvenile idiopathic arthritis. FUNDING: Associazione Lorenzo Risolo.

Renal and cardiovascular effects of angiotensin-converting enzyme inhibitor plus angiotensin II receptor antagonist therapy in children with proteinuria.

OBJECTIVE: We investigated whether the combination of an angiotensin-converting enzyme inhibitor and an angiotensin II type 1 receptor antagonist offers better control of proteinuria and cardiovascular parameters without causing adverse side effects. METHODS: We enrolled 10 children (mean age: 12.3 +/- 4.06 years) with proteinuria resulting from chronic renal diseases of various causes. The study consisted of 2 phases, 3 months each, for an overall 6-month observation time. During phase 1 (3 months), each child was assigned randomly to treatment with either an angiotensin-converting enzyme inhibitor or an angiotensin II type 1 receptor antagonist alone. During phase 2, each child was advanced to combination therapy with the addition of an angiotensin II type 1 receptor antagonist or an angiotensin-converting enzyme inhibitor, respectively. Renal function tests, echocardiography, and 24-hour ambulatory blood pressure monitoring were performed at the beginning of the study (time 0), at 3 months (time 1), and at 6 months (time 2). RESULTS: At time 2, proteinuria (change: -80.21 +/- 10.75%), interventricular septum index (change: -13.63 +/- 18.64%), posterior wall of the left ventricle index (change: -30.71 +/- 20.32%), and left ventricular mass index (change: -28.33 +/- 24.44%) were reduced significantly, compared with time 0 and time 1. No untoward side effects were detected during the study. CONCLUSIONS: In the short term, the combination of angiotensin-converting enzyme inhibitors and angiotensin II type 1 receptor antagonists for children with proteinuria of renal origin reduced proteinuria significantly, compared with baseline or either drug alone. Furthermore, echocardiographic studies gave evidence of reduction of left ventricular hypertrophy. Additional studies are needed to evaluate long-term results.