Absence of severe complications from SARS-CoV-2 infection in children with rheumatic diseases treated with biologic drugs

We read with interest the Editorial by Cron and Chatam (1) suggesting a cytokine storm syndrome (CSS) occurring in response to SARS-CoV-2 infection and, consequently, a possible role for targeted approaches to blocking inflammatory cytokines

Use of anakinra in severe COVID-19: a case report

Coronavirus Disease 19 is a global healthcare emergency with high lethality rate. Relevant inflammatory cytokine storm is associated with severity of disease and IL1 inhibition is a cornerstone treatment for hyperinflammatory diseases. We present here the case of a patient with critical COVID-19 successfully treated with IL-1 receptor antagonist (anakinra)

Quaternary evolution of the lower calore and middle volturno valleys (Southern Italy)

The lower Calore and middle Volturno valleys preserve stratigraphical and morphological evidence and tephrostratigraphic markers particularly suitable for reconstructing the long-term geomorphological evolution of the central-southern Apennines. Aim of our study is to identify the main steps of the Quaternary landscape evolution of these valley systems and to improve knowledge about the relationships between fluvial processes and tectonics, volcanic activity, climatic and human influences. To this purpose, we carried out an integrated geomorphological and chronostratigraphical analysis of identified fluvial landforms and related deposits, integrated by230Th/234U datings on travertines from the Telese Plain area. The study highlighted in particular: (1) fluvial sedimentation started in the Middle Pleistocene (~650 ka) within valleys that originated in the lower Pleistocene under the control of high-angle faults; (2) extensional tectonics acted during the Middle and Upper Pleistocene, driving the formation of the oldest fluvial terraces and alluvial fans, and persisted beyond the emplacement of the Campanian Ignimbrite pyroclastic deposits (~39 ka); and (3) from the late Upper Pleistocene onwards (<15 ka), the role of tectonics appears negligible, while climatic changes played a key role in the formation of three orders of valley floor terraces and the youngest alluvial fans

The Turkish Version of the Juvenile Arthritis Multidimensional Assessment Report (JAMAR)

The Juvenile Arthritis Multidimensional Assessment Report (JAMAR) is a new parent/patient reported outcome measure that enables a thorough assessment of the disease status in children with juvenile idiopathic arthritis (JIA). We report the results of the cross-cultural adaptation and validation of the parent and patient versions of the JAMAR in the Turkish language. The reading comprehension of the questionnaire was tested in 10 JIA parents and patients. Each participating centre was asked to collect demographic, clinical data and the JAMAR in 100 consecutive JIA patients or all consecutive patients seen in a 6-month period and to administer the JAMAR to 100 healthy children and their parents. The statistical validation phase explored descriptive statistics and the psychometric issues of the JAMAR: the 3 Likert assumptions, floor/ceiling effects, internal consistency, Cronbach\u27s alpha, interscale correlations, test-retest reliability, and construct validity (convergent and discriminant validity). A total of 466 JIA patients (13.7% systemic, 40.6% oligoarticular, 22.5% RF negative poly-arthritis, and 23.2% other categories) and 93 healthy children were enrolled in four centres. The JAMAR components discriminated well-healthy subjects from JIA patients. All JAMAR components revealed good psychometric performances. In conclusion, the Turkish version of the JAMAR is a valid tool for the assessment of children with JIA and is suitable for use both in routine clinical practice and clinical research

Hospital clinical pathways for children affected by juvenile idiopathic arthritis

BACKGROUND: Juvenile idiopathic arthritis (JIA) is the most common pediatric chronic rheumatic disease, which requires constant follow-up over the years, due to relapses during its progression. To maintain a good quality of life, it is important to limit admissions as far as possible. With the development of a Diagnostic Therapeutic Assistance Pathway (DTAP), we aim to select patients with suitable clinical conditions to be moved from routine hospital management to day care or outpatient treatment, evaluating the number of patients to whom this would apply. METHODS: Monocentric study regarding admissions for JIA between 2014 and 2016 in a Pediatric Unit of a university hospital in Milan. Through an analysis of the medical records, relevant information was extracted and collected in a Microsoft\u2122 Excel database; starting from the data collected during the first year, a DTAP was prepared for patients with active arthritis and appropriate clinical conditions. RESULTS: The study includes data from 223 JIA hospitalization cases involving 127 patients. Applying DTAP criteria, 32% patients would have avoided admissions and 23% would have been admitted less frequently. The data concerning the activities of the Unit for JIA patients showed a relevant drop in the number of hospitalizations since 2015, from 89 in 2014 to 66 and 68 in 2015 and 2016 respectively. CONCLUSION: The opportunity offered by DTAP, has suggested feasible changes in hospitalization management and it's use would promote the possibility of treating the children without hospitalization, or minimizing it. In conclusion DTAP application is a priority for the continuous improvement of clinical practice and quality of life for patients and their families

Hospital clinical pathways for children affected by juvenile idiopathic arthritis

BACKGROUND: Juvenile idiopathic arthritis (JIA) is the most common pediatric chronic rheumatic disease, which requires constant follow-up over the years, due to relapses during its progression. To maintain a good quality of life, it is important to limit admissions as far as possible. With the development of a Diagnostic Therapeutic Assistance Pathway (DTAP), we aim to select patients with suitable clinical conditions to be moved from routine hospital management to day care or outpatient treatment, evaluating the number of patients to whom this would apply. METHODS: Monocentric study regarding admissions for JIA between 2014 and 2016 in a Pediatric Unit of a university hospital in Milan. Through an analysis of the medical records, relevant information was extracted and collected in a Microsoft™ Excel database; starting from the data collected during the first year, a DTAP was prepared for patients with active arthritis and appropriate clinical conditions. RESULTS: The study includes data from 223 JIA hospitalization cases involving 127 patients. Applying DTAP criteria, 32% patients would have avoided admissions and 23% would have been admitted less frequently. The data concerning the activities of the Unit for JIA patients showed a relevant drop in the number of hospitalizations since 2015, from 89 in 2014 to 66 and 68 in 2015 and 2016 respectively. CONCLUSION: The opportunity offered by DTAP, has suggested feasible changes in hospitalization management and it's use would promote the possibility of treating the children without hospitalization, or minimizing it. In conclusion DTAP application is a priority for the continuous improvement of clinical practice and quality of life for patients and their families

Interstitial lung disease in a newborn affected by mevalonic aciduria

Introduction: Mevalonic aciduria (MA) is the most severe phenotype of mevalonate-kinase deficiency (MKD), with a onset in early infancy and poor prognosis. MA diagnosis may be challenging in the neonatal period given its rarity and its unspecific symptoms that frequently recall those of other neonatal diseases. To our knowledge, interstial lung involvement has never been described as onset feature in a newborn with MKD. Objectives: We report the case of a newborn affected by MKD characterized by interstitial lung disease. Methods: The patient underwent laboratory and radiology evaluation as clinically indicated. Direct Sanger sequencing was used to screen the 10 exons of the MVK gene. Results: A female neonate born at term from consanguineous parents was referred to our hospital at 16 days of life (DOL) for mild hypotonia and persistent raised inflammatory markers despite antibiotic therapy. Infectious work-up was negative for both viral and bacterial infections. Chest x-ray revealed bilateral perihilar peribronchial thickening. Electroencephalography (EEG) reported moderate diffuse anomalies of background activity without major abnormalities. On DOL 20 the first episode of fever was recorded. Due to worsening tachypnea and persistent abnormal chest x-ray, a pulmonary CT scan was performed and showed diffuse ground-glass bilateral infiltrates consistent with alveolar-interstitial lung disease. On DOL 22 a palpable maculo-papular skin rash appeared on feet and hands, vanishing spontaneously 24 hours later. Bone marrow examination and levels of perforins, neuron-specific enolase and urinary catabolites of catecholamines were normal. A total body MRI was normal except for a mild cerebellar hypoplasia and the known interstitial lung disease. The patient kept presenting hypotonia, relapsing episodes of fever and skin rashes, developed anemia requiring blood transfusions and failure to thrive became evident. Type-I IFN signature was negative. A genetic test was requested, as well as quantification of urinary levels of mevalonic acid, which were markedly above the normal range. Direct Sanger sequencing allowed to detect a homozygous c.709A>T missense mutation in the exon 8 of the MVK gene, coding for a protein substitution p.T237S already classified as pathogenic in the INFEVERS database (http://fmf.igh.cnrs.fr/ISSAID/infevers/) and therefore consistent with the diagnosis of MKD. Both parents and her sister were found to be heterozygous carriers of the same mutation. On DOL 38 treatment with anakinra was started, with prompt regression of fever and skin rash, decrease in inflammatory markers, increase in reticulocytes count and weight gain. Hypotonia improved but persisted. The patient was discharged from hospital on DOL 56 in good clinical conditions, with acute phase reactants within the normal range and mild hypotonia. She is now 4 months old, still on anakinra treatment without adverse events. Conclusion: Autoinflammatory diseases in the neonatal period are a diagnostic challenge. Clinical suspicion is crucial in order to perform specific laboratory and genetic testing and start appropriate treatment. Interstitial lung involvement may be present in MKD and, together with increased inflammatory markers, could be the first manifestation of the disease