Studies of bone mineral density in children affected by dietary intolerances

The Pediatric Department of the University of Ferrara has developed a special expertise in the field of hemoglobinopathies and has also an interest in gastrointestinal diseases. It has a long standing collaboration with the Department of Genetics of the University of Verona. The main fields of interest are thalassemia, gluten intolerance, and osteoporosis in its various aspects. Using our previous research experience as a platform, we plan to study Vitamin D metabolism, bone mineral density, the FGF23 and Klotho axis in patients with thalassemia, in patients with adult type lactose intolerance, in patients treated with antiepileptic drugs and in those who suffer from gluten intolerance. Finally, we intend to cooperate with another group (PP9) of the Trans2Care project in order to clarify the role of tissue antitransglutaminases in seronegative patients with symptoms of gluten intolerance

Thalassemia and the heartquake

On May 2012 the city of Ferrara and the surrounding region were hit by several earthquakes. We had the chance to observe the behavior of one thalassemic heart during the shocks, because of a 24-h electrocardiogram recording had been put in place a few hours before the shocks

Subcutaneous bolus injection of deferoxamine in adult patients affected by onco-hematologic diseases and iron overload

Background and Objective. Chelation therapy is often necessary for patients who undergo chronic transfusion therapy for myelodysplastic syndromes. In these patients, deferoxamine, the most widely used chelating agent, has been reported to be effective in reducing the iron burden and the transfusion requirement. Unfortunately, compliance with the drug, that is usually administered by slow subcutaneous infusion via a battery operated pump, is often poor, especially in elderly patients

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

Objective: The prevalence of coeliac disease (CD) inVietnam 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. Participants: Children having blood drawn for any reason were included. Exclusion criteria were age younger than 2 years, acquired or congenital immune deficiency and inadequate sample. A total of 1961 children (96%) were enrolled (838 females, 1123 males, median age 5.3 years). Outcomes: Primary outcome was the prevalence of positive autoimmunity to both IgA antitransglutaminase antibodies (anti-tTG) assessed with an ELISA test and antiendomysial antibodies (EMA). Secondary outcome was the prevalence of CD predisposing human leucocyte antigens (HLA) (HLA DQ2/8) in the positive children and in a random group of samples negative for IgA anti-tTG. Results: The IgA anti-tTG test was positive in 21/1961 (1%; 95% CI 0.61% to 1.53%); however, EMA antibodies were negative in all. HLA DQ2/8 was present in 7/21 (33%; 95% CI 14.5% to 56.9%) of the anti-tTG-positive children and in 72/275 (26%; 95% CI 21% to 32%) of those who were negative. Conclusions: Coeliac autoimmunity is rare in Vietnam, although prevalence of HLA DQ2/8 is similar to that of other countries. We hypothesise that the scarce exposure to gluten could be responsible for these findings

Surviving with thalassemia major: the Italian experience.

The article discusses the new therapies of thalassemia and the improvements in survival. However new life threatening complications are being recognized, among which severe thromboembolic events, pulmonary hypertension, and pseudoxanthoma elasticum. The price for one year of treatment, in Italy, has been calculated to average 14,000 € per patient. The major cost driver is chelation therapy that represents more than half of total costs, followed by transfusions, surgical interventions, and laboratory tests . The efforts made in the past in screening and educating the population about the disease have been successful. The births of affected children are now sporadic. The recent intense migratory fluxes of people coming from areas of the world where thalassemia and other hemoglobinopathies are highly prevalent will make preventing and treating thalassemia even more challenging in the next decades

The life of patients with thalassemia major

Andrea wakes up late, because the night before he went to a party with his girlfriend. He disconnects the needle and puts his desferal pump in the drawer. Then he rushes to work: he’s a computer designer and his job is quite safe, because it was granted under the law protecting thalassemia patients and other people with medical problems. Nevertheless he does not want to irritate his boss. Besides, in a few days, he will be absent, and work will pile up, as he needs to go to the hospital for his regular blood transfusion

Aggiornamento sulla terapia della piastrinopenia immune in età pediatrica.

La revisione pubblicata nel 2004 su questa rivista analizzava 4 anni di letteratura, fino al giugno 2003. Da allora poche sono le novità nell’ambito della piastrinopenia autoimmune (PTI), mancando soprattutto studi prospettici randomizzati e nuove linee guida che possano guidare il lavoro del clinico. Nell’ambito della PTI acuta si conferma il riscontro di una migliore efficacia delle immunoglobuline per via endovenosa (IVIG) nel raggiungere più velocemente conte piastriniche elevate. Nella pratica clinica si evidenzia da parte di molti ematologi pediatri statunitensi l’uso delle immunoglobuline anti-Rh (Ig anti-D) come prima scelta nella terapia della PTI all’esordio, nonostante .gli importanti effetti collaterali riportati. Protagonista più recente nella terapia della PTI cronica è l’anticorpo monoclonale Rituximab. In questi anni sono stati pubblicati alcuni studi che ne hanno evidenziato una buona efficacia (30-50%) nel trattamento sia della forma cronica che di quella refrattaria. L’International Childhood ITP Study Group (ICIS) ha dato il via alla creazione di registri internazionali che potranno fornire utili dati per nuovi studi prospettici e per linee-guida evidence-based

Thalassemias and related disorders: quantitative disorders of hemoglobin synthesis.

A very comprehensive approach to the thalassemias, from the molecular to the clinical aspects. A special attention is dedicated to all the possible complications, to their prevention and treatment. An attempt to introduce the most recent findings of the literature has been made

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

KEY POINTS Thalassemia major is caused by defects in the synthesis of one or more of the globin subunits of hemoglobin, resulting in variable phenotypes. The yearly incidence of symptomatic individuals is estimated at 1 in 100,000 people throughout the world (22,989 new births) and 1 in 10,000 people in the European Union. Patients with thalassemia, being transfusion-dependent and having a hyperactive marrow, accumulate iron in tissues. The worldwide birth rate of individuals with symptomatic sickle cell disease (SCD) is approximately 2.2 per 1000 births. However, the disease incidence varies between ethnic groups. Blood transfusions may be required in both acute and chronic complications of SCD. SCD and thalassemia major differ in iron-loading patterns and in the prevalence of ironinduced organ damage