Therapeutic advances, including the availability of oral iron chelators and new non-invasive methods for early detection and treatment of iron overload, have significantly improved the life expectancy and quality of life of patients with thalassemia, with a consequent increase in their reproductive potential and desire to have children. Hundreds of pregnancies have been reported so far, highlighting that women carefully managed during preconception usually carry out a successful gestation and labour, both in case of spontaneous conception and use of assisted reproductive techniques. A multidisciplinary team including a cardiologist, an endocrinologist and a gynaecologist, with the supervision of an expert in beta-thalassemia should be involved.  During pregnancy, a close follow-up of maternal disorders and of the baby's status is recommended. Haemoglobin should be maintained over 10 g/dL to to allow normal foetal growth. Chelators are not recommended during pregnancy; nevertheless, it may reasonable to consider restarting chelation therapy with desferrioxamine towards the end of the second trimester when the potential benefit outweighs the potential foetal risk. Women with non-transfusion-dependent thalassemia who have never previously been transfused or who have received only minimal transfusion therapy are at risk of severe alloimmune anaemia if blood transfusions are required during pregnancy. Since pregnancy increases the risk of thrombosis three-fold to four-fold and thalassemia is also a hypercoagulable state, the recommendation is to keep women who are at higher risk -such as those who are not regularly transfused and those splenectomised-  on prophylaxis during pregnancy and during the postpartum period.   Keywords:Pregnancy, Thalassemia major, Thalassemia intermedia, Haemoglobin H disease, Counselling

Adult subjects with Thalassemia who live in Western countries have a good quality of life in accordance with the advances in the management of the disease.

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Background: Necrotizing enterocolitis (NEC) and supraventricular tachycardia (SVT) are serious emergencies in the neonatal period. Although these conditions are recognized as distinct pathologies, literature reports suggest that recurrent episodes of SVT may predispose patients to NEC via disturbances in mesenteric blood flow and a decrease in tissue perfusion. Case presentation: We present a case of a preterm infant affected by recurrent episodes of SVT who developed the initial stage of NEC on the 17th day of life. Moreover, a detailed description of all the cases described in the literature is reported. Materials and methods: An integrative review of the updated literature in the Medline database and PubMed and scientific books and articles was conducted. The research from October 2019 to December 2019 was searched for with MeSH and free terms (necrotizing enterocolitis, supraventricular tachycardia) and was linked by Boolean operators. Conclusions: SVT can be considered a risk factor for the development of NEC. Therefore, clinicians should have a high level of suspicion for NEC in infants affected by SVT. This article is the first structured literature review analysing the association between SVT and NEC.

Docosahexaenoic acid (DHA) is an essential ω-3 long-chain polyunsaturated fatty acid (LCPUFA) and represents the dominant structural fatty acid in the retina and in the brain's gray matter. Due to its active participation in the development of the nervous system, DHA is one of the most studied LCPUFA and is currently considered a critical nutrient during pregnancy and breastfeeding. Increasing evidence in literature suggests that an adequate concentration of DHA is required from the fetal stage through to early life to ensure optimal neurological development. Likewise, many studies in literature demonstrated that an adequate supply of DHA during pregnancy and lactation is essential to promote proper brain development in utero and in early life. Daily supplementation of DHA in newborns has potentially stronger effects compared to maternal supplementation during pregnancy. Supplementation initiated in the second year of life in children born preterm did not result in global cognitive development improvements. Preliminary findings arising from metabolomics has reported that mother's milk and infant formula supplementation of Vitamin D associated with DHA results in a higher antioxidant and protective action, with a possible positive influence on renal function and body fat on preterm infants compared to those receiving only vitamin D. Recent applications of metabolomic studies on newborns may lead to a better understanding of the metabolic process linked to early nutrition and, subsequently, to the development of targeted and personalized nutritional strategies.

BackgroundAdalimumab (ADA), a fully humanized antibody against tumor necrosis factor (TNF)-α, has revolutionized treatment of patients with juvenile idiopathic arthritis (JIA). Although most of these respond within the first weeks, a minority may show loss of response (LOR) after continued exposure. Many studies demonstrate the influence of anti-adalimumab antibodies (AAA) on serum drug concentrations and clinical outcome in adults. However, little information about AAA and LOR is available for children with JIA.ObjectivesTo describe demographic and clinical features in a single-center cohort of JIA patients treated with ADA, grouped according to frequency of drug administration (1W vs 2W); to assess ADA levels versus AAA titer and, finally, to investigate possible correlation between LOR to ADA and AAA.MethodsRecords of JIA patients on ADA treatment were retrospectively reviewed with focus on medical history and ELISA (enzyme-linked immunosorbent assay) ADA/AAA levels in a 12-month-period (Feb 2021-Feb 2022). Children with idiopathic uveitis were excluded. Samples furthest from last drug administration was defined as “trough level”. Data were analyzed via descriptive statistics (STATA 15.1).ResultsOf 61 JIA patients treated with ADA (49% females), 38 had ANA positive oligoarthritis with almost one large joint involvement at disease onset (T0). None of them presented RF-positive polyarthritis, nor systemic JIA (s-JIA). The median age at T0 was about 3 years. Half of study cohort was b-DMARDS naive at ADA start (T1), while all children were on c-DMARDs. Chronic recurrent uveitis was the main reason for ADA starting, followed-by tenosynovitis and spine or hip active arthritis. At the first ADA/AAA sampling (T2), approximately 15% of patients had active disease, with elbows or wrists as the most frequently involved. Extreme variability was observed between AAA titers (median 7.4 AU/ml) and ADA levels (median 15.4 micrograms/ml), regardless from 1 or 2-weekly administration. ADA levels, compared to the days from last drug administration, reached plateau values corresponding to a pharmacokinetic steady state. Among both study groups, a possible inverse correlation between ADA and AAA was found. We identified 30 JIA patients with clinical (presence of arthritis or uveitis) or laboratory (ESR ≥15 mm/h; CRP> 0.5 mg/dL) disease activity. Among these in only 6 we found very high AAA titers (350.0 - 113.4 AU/mL). In the subgroup of 37 patients with “trough-level” sampling heterogeneous data about AAA titers and drug level distribution were observed.ConclusionOur preliminary data showed a possible association between occurrence of AAA and lower ADA levels. However, a targeted risk analysis about high AAA titers and LOR incidence was not available. Monitoring of drug immunogenicity should be implemented in daily practice and become subject of future studies JIA.References[1]Brunelli et al. “Anti-adalimumab antibodies kinetics: an early guide for juvenile idiopathic arthritis (JIA) switvhing” Clin Rheumatol 2019[2]Skrabl-Baumgartner A. et al. “Anti-adalimumab antibodies in juvenile idiopathic arthritis: frequent association with loss of response”. Scand J Rheumatol 2015[3]Imagawa T. et al. “Anti-adalimumab antibodies in a cohort of patients with juvenile idiopathic arthritis: incidence and clinical correlations”. Clin Rheumatol 2018Acknowledgements:NIL.Disclosure of InterestsNone Declared.

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