Overall and complication-free survival in a large cohort of patients with β-thalassemia major followed over 50 years.

We report data on survival and complications for a longitudinal cohort of 709 transfusion-dependent β-thalassemia major patients (51.1% males) born between 1970 and 1997 and followed through 2020 at seven major centers in Italy. Overall survival probability at 30 years was 83.

Factors affecting yawning frequencies in preterm neonates.

Yawning is a long neglected behavioral pattern, but it has recently gained an increasing interdisciplinary attention for its theoretical implications as well as for its potential use as a clinical marker, with particular regard to perinatal neurobehavioral assessment. The present study investigated the factors affecting yawning frequencies in hospitalized preterm neonates (N = 58), in order to distinguish the effects of hunger and sleep-related modulations and to examine the possible impact of demographic and clinical variables on yawning frequencies. Results showed that preterm neonates yawned more often before than after feeding, and this modulation was not explained by the amount of time spent in quiet sleep in the two conditions.

Extreme thrombocytosis in systemic juvenile idiopathic arthritis. A case report.

Background: Systemic onset juvenile idiopathic arthritis (SoJIA) is a rare inflammatory disorder characterized by remitting fevers, evanescent rash, generalized lymphadenopathy, hepatomegaly/splenomegaly, and/or serositis.

Case Presentation: Here we report the case of a 5 years-old girl with SoJIA complicated by severe thrombocytosis. Treatment with the Interleukin-1β (IL-1β) receptor antagonist Anakinra caused a fast reduction of blood platelets and of the associated systemic inflammatory response.

Luspatercept improves hemoglobin levels and blood transfusion requirements in a study of patients with β-thalassemia.

β-thalassemia is a hereditary disorder with limited approved treatment options; patients experience anemia and its complications, including iron overload. The study aim was to determine whether luspatercept could improve anemia and disease complications in patients with β-thalassemia. This open-label, nonrandomized, uncontrolled study consisted of a 24-week dose-finding and expansion stage (initial stage) and a 5-year extension stage, currently ongoing.

Assessment of Lactose-Free Diet on the Phalangeal Bone Mineral Status in Italian Adolescents Affected by Adult-Type Hypolactasia.

Adult-type hypolactasia (ATH) is a clinical syndrome of primary lactase deficiency. A lactose-free diet is advisable to avoid the symptoms linked to the condition, but this potentially creates problems for optimal bone mineralization due to reduced calcium intake. To evaluate the effect of the lactose-free diet on the bone mineral status (BMS), we compared the phalangeal BMS of adolescents with ATH to that of peers on a normal diet.

Multifocal Skin Tuberculosis: Report of A Case.

Tuberculosis (TB) is a severe problem in underdeveloped countries. Cutaneous TB is rare and often goes unrecognized. We report a Pakistani child with multifocal cutaneous and pulmonary TB.

Pseudoxanthoma Elasticum-Like in β-Thalassemia Major, a matter of α-Klotho and Parathyroid Hormone?

Pseudoxanthoma elasticum-like (PXL) condition is one of the complications faced by patients with β-thalassemia major (β-TM). Histopathological features include abnormal, mineralized and fragmented elastic fibers in skin, eyes and arterial blood vessels (elastorrhexia). The pathogenesis of PXL lesions in β-TM is not yet completely understood.

Universal Head Ultrasound Screening in Full-term Neonates: A Retrospective Analysis of 6771 Infants.

Background: Full-term neonates may have asymptomatic cranial injuries at birth and head ultrasound screening could be useful for early diagnosis. The aim of this study was to assess the prevalence and type of intracranial abnormalities and the usefulness of head ultrasound screening in these infants.

Methods: Head ultrasound screening was performed on all full-term neonates (gestational age between 37 and 42 weeks), born at Sant'Anna University Hospital of Ferrara, Italy, from June 1, 2008 through May 31, 2013.

Can the surgical tourniquet be used in patients with sickle cell disease or trait? A review of the literature.

In patients with sickle cell disease, circulatory stasis, acidosis, and hypoxemia induce red cell deoxygenation and consequent sickling. Tourniquets are an important adjunct in limb surgery to obtain a bloodless field. Many local and systemic effects, due to the inflation and deflation of the tourniquet, can develop.

Pica as a manifestation of iron deficiency.

Pica is the compulsive eating of non-nutritive substances. It is often associated with iron deficiency but its pathophysiology is unknown. Areas covered: We searched the literature using the keywords listed below.

Cross-sectional study of coeliac autoimmunity in a population of Vietnamese children.

Objective: The prevalence of coeliac disease (CD) in Vietnam is unknown. To fill this void, we assessed the prevalence of serological markers of CD autoimmunity in a population of children in Hanoi.

Setting: The outpatient blood drawing laboratory of the largest paediatric hospital in North Vietnam was used for the study, which was part of an international project of collaboration between Italy and Vietnam.

Malignancies and thalassemia: a review of the literature.

Thalassemia is a genetic hematologic disease, characterized by a defect in hemoglobin chain synthesis. Because of safe transfusions and effective chelation therapy, survival of affected patients has significantly improved in the last few decades. However new complications are appearing.

Iron Chelation in Thalassemia Major.

Purpose: Iron chelation has improved survival and quality of life of patients with thalassemia major. there are currently 3 commercially available iron-chelating drugs with different pharmacokinetic and pharmacodynamic activity. The choice of adequate chelation treatment should be tailored to patient needs and based on up-to-date scientific evidence.

Klotho, a new marker for osteoporosis and muscle strength in β-thalassemia major.

Aim of this study was to compare plasma levels of the secreted protein Klotho in β-thalassemia major patients and in healthy controls. Also, we examined the existence of correlations between the protein level and osteoporosis, poor muscle strength and fractures. A total of 106 patients with β-thalassemia major and 95 healthy blood donors were enrolled.

Myocardial fibrosis by late gadolinium enhancement cardiac magnetic resonance and hepatitis C virus infection in thalassemia major patients.

Aims: Our aim was to evaluate the correlation between myocardial fibrosis detected using the late gadolinium enhancement (LGE) cardiovascular magnetic resonance (CMR) technique and chronic hepatitis C (CHC) in a large, retrospective, multicentre cohort of thalassemia major patients.

Methods: LGE images were acquired in 434 thalassemia major patients (233 men, 31 ± 9 years) enrolled in the MIOT (Myocardial Iron Overload in Thalassemia) study. Hepatitis C virus (HCV)-RNA tests were sensitive to detect more than 50  copies/ml.

Universal cranial ultrasound screening in preterm infants with gestational age 33-36 weeks. A retrospective analysis of 724 newborns.

Background: Cranial ultrasonography is a useful tool to detect intracranial lesions in premature neonates at risk. Our primary aim was to determine the number of patients with abnormal cranial ultrasonography. Secondary aims were to evaluate the usefulness of universal cranial ultrasonography screening in moderately preterm infants.

Characterization of Hb Calvino (HBB: c.406G > A): a new silent β-globin gene variant found in coexistence with α-thalassemia in a family of African origin.

We report a new silent β-globin gene variant found in a family from Angola living in the north eastern Italian city of Ferrara. The probands, two young sisters, presented with hematological parameters compatible with a β-thalassemia (β-thal) minor but with normal Hb A₂ levels and normal hemoglobin (Hb) separation on high performance liquid chromatography (HPLC). Molecular analyses revealed a homozygosity for the common -α(3.

Transfusional iron overload and iron chelation therapy in thalassemia major and sickle cell disease.

Iron overload is an inevitable consequence of blood transfusions and is often accompanied by increased iron absorption from the gut. Chelation therapy is necessary to prevent the consequences of hemosiderosis. Three chelators, deferoxamine, deferiprone, and deferasirox, are presently available and a fourth is undergoing clinical trials.

Hepatocellular carcinoma in thalassaemia: an update of the Italian Registry.

The risk of developing hepatocellular carcinoma (HCC) in patients with thalassaemia is increased by transfusion-transmitted infections and haemosiderosis. All Italian Thalassaemia Centres use an ad hoc form to report all diagnoses of HCC to the Italian Registry. Since our last report, in 2002, up to December 2012, 62 new cases were identified, 52% of whom were affected by thalassaemia major (TM) and 45% by thalassaemia intermedia (TI).

Antibodies reacting with Simian virus 40 mimotopes in serum samples from patients with thalassaemia major.

Background: Simian virus 40 (SV40) is a small DNA tumour virus. Footprints of the virus have been detected in different humam lymphoproliferative disorders and in blood specimens of blood from healthy blood donors. This study was carried out to verify whether SV40 antibodies can be detected in serum samples from multiply transfused patients with thalassaemia major.

Myocardial iron overload in thalassaemia major. How early to check?

The age at which it is necessary to start Cardiovascular Magnetic Resonance (CMR) T2* screening in thalassaemia major (TM) is still uncertain. To clarify this point, we evaluated the prevalence of myocardial iron overload (MIO), function and fibrosis by CMR in TM patients younger than 10 years. We retrospectively selected 35 TM patients enrolled in the Myocardial Iron Overload in Thalassaemia network.

Serological evidence of an early seroconversion to Simian virus 40 in healthy children and adolescents.

At present Simian virus 40 (SV40) infection in humans appears to be transmitted independently from early contaminated vaccines. In order to test the spread of SV40 infection in children, an immunologic assay employing specific SV40 synthetic peptides corresponding to its viral protein (VP) antigens was employed to estimate the seroprevalence of this polyomavirus in Italian infants and adolescents. Serum samples from 328 children and adolescents, up to 17 years, were investigated.

Universal neonatal screening for sickle cell disease and other haemoglobinopathies in Ferrara, Italy.

Background: Sickle cell disease is the commonest haemoglobinopathy in Africa, the Middle East and India. In recent years, its incidence has increased dramatically also in Europe and North America because of the high rate of migration of people from endemic areas. From January 2009 to January 2010 the number of foreign residents in the province of Ferrara (Italy) increased by 12.