Hyperferritinaemia without iron overload: pathogenic and therapeutic implications.

It is not unusual to meet increased levels of ferritinaemia in patients apparently healthy. Among other causes of hyperferritinaemia, recently was described the Hereditary Hyperferritinemia Cataract Syndrome, a genetic condition characterized by increased serum ferritin values without iron overload and bilateral nuclear cataract, both of early onset. It has been demonstrated that single or double point mutations or deletions in the stem-loop structure of the iron regulatory element (I.R.E.) located in the 5 untranslated regions of the ferritin L-subunit gene (19q13.1) are responsible for the upregulation of ferritin. This overexpression only for the L-chain gives rise to typical piles in several tissues. When this altered ferritin accumulates in lens it causes bilateral nuclear cataracts, that is the peculiar sign of this syndrome. It is essential to differentiate true iron overload from Hereditary Hyperferritinaemia Cataract Syndrome (H.H.C.S.), because these patients rapidly develop iron deficient anaemia when venosectioned. Here we describe a case report about a 40 years old healthy female blood donor who presented isolated hyperferritinaemia without iron overload, in the absence of concomitant pathologies. Anamnestic, biochemical, instrumental and clinical investigations led us to diagnose H.H.C.S., a pathology first described in 1995. From 1995 to date about 40 cases concerning patients showing the characteristics of this syndrome from Europe, USA, and Australia were described. Biochemical, genetical and clinical investigations led finally to understand every matter of this pathology, providing conclusive and exhaustive explanations.

[Phagocytic function of PMN granulocytes in a pediatric population with recurrent respiratory infections]. / Studio della funzionalità fagocitaria dei granulociti PMN in una popolazione pediatrica con infezioni respiratorie ricorrenti (IRR).

We have studied the Phagocytosis at 32 children who had recurrent respiratory tract infection (RRI). We used a easy method (Phagolux). The seventy-five percent (24/32) of children had a Phagocytosis and/or Opsonisation Deficit during or following the acute respiratory tract infection. All children (except for one who had a C3-deficit) reached normal parameters after (or al least) fourty-five days.

[Peripheral lymphocyte populations in patients treated with pelvic and mediastinal radiotherapy]. / Contributo allo studio delle popolazioni linfocitarie periferiche in pazienti trattati con radioterapia sul volume pelvico e mediastinico.

Solid tumor bearing patients often show a large variety of immunologic alterations: increase in immune complexes number, reduced NK activity, decreased IL-2 production, T4/T8 reverse and s.o. Most literature data generally concern chemotherapy and/or radiotherapy pretreated patients, so it is difficult to relate the immunological alterations with either antineoplastic treatments or the disease itself. We tried to evaluate any possible alteration of immunological parameters in patients with solid neoplasms who underwent radiotherapy on mediastinum or pelvis. The aim was to detect any variation in peripheral lymphoid sub-populations (even per site of irradiation) and a possible activation of an immune therapy. The evaluable patients were 38 (12 treated with surgery). The minimum dose delivered was 5000 cGys through conventional fractionation. The immunological parameters (T, B, N, T4, T8, H/S) were evaluated before the treatment, at the end and every 2 months during follow-up. Cases were analyzed also per single irradiation volume. No statistically significant variation in immunological parameters was found, although suppressor activity was confirmed as prevailing in immune responsiveness of cancer patients. Thus any significant correlation between immunological state and disease evolution or response to treatment has still to be verified.

Pilot study of intravenous administration of the acid-treated Salmonella minnesota R595 (Re) in cancer patients.

The clinical toxicity of acetic acid-treated "Salmonella minnesota" R595 (Re) organisms was evaluated in 24 cancer patients. Bacteria were injected i.v. four times at increasing doses for a total of 6.5 micrograms. This therapeutic regimen was free of major side effects (one patient had fever higher than 38 degrees C and 10 patients complained of pruritus). Furthermore, this bacterial preparation which possesses a more exposed lipid A on its surface, exhibited immunomodulating capacities in that it normalized the inverted T helper/T suppressor ratio and enhanced natural killer activity in tumor patients. The mechanisms of the lower toxicity and immunomodulating activities of these bacteria compared to other lipid A preparations are discussed.

[Evaluation of 2 new methods for eluting antibodies from red cells]. / Valutazione di due nuove metodiche per la eluizione di anticorpi gruppo-ematici.

The authors studied three techniques for eluting red cells antibodies using ether, chloroform and xylene. The xylene method produced stronger reacting eluates than ether and chloroform eluates. The advantages of xylene elution are: the method is sensitive, simple and rapid; the eluate is readily obtained from the top layer after centrifugation.