Intravenous pulse methylprednisolone in chronic idiopathic thrombocytopenia.

Two children with chronic idiopathic thrombocytopenic purpura unresponsive to either standard corticosteroid treatment or high dose intravenous gammaglobulin, or both, were treated with intravenous methylprednisolone (15 mg/kg/day) given in pulses over three consecutive days. Both children showed a positive response and are still in remission after three months.

Familial congenital bowing with short thick bones and metaphyseal changes, a distinct entity. Report of the clinical and radiological findings in two siblings.

The authors describe two siblings, a male and a female, with disproportionate short stature, rhizomelic-mesomelic shortening of the limb bones, marked bowing of the femora, moderate bowing of the humeri, radii and ulnae, straight tibiae and fibulae, normal hands, flared cupped metaphyses of the tibiae, ulnae, radii and ribs, and narrow chest. There was some improvement of the bone changes with advancing age. These two patients are similar to five other cases from the literature and strongly support Hall and Spranger's view that this pseudocampomelic condition most likely represents a distinct familial bowing syndrome. The differential diagnosis and the hereditary aspects in the two patients, are also briefly discussed.

[Vitamin D in the prevention of growth disorders]. / La vitamin D nella prevenzione dei Disturbi dell'Accrescrimento.

A recent therapeutic development consists in the utilization of vitamins as pharmacological agents in the treatment of a variety of diseases. The growth defect accompanying deficiency rickets and other forms of refractory rickets can be prevented or corrected, at least partially, by the use of high doses of its metabolites, 25 OH D3, 1,25 (OH)2 D3, 1 OH D3. On the basis of many published studies and of a few patients personally observed it is possible to delineate the form and the dosage of these drugs for the treatment of vitamin D dependent rickets and of the bone lesions in renal insufficiency, in familial hypophosphatemic rickets and in complex tubulopaties. In some of these a dietetic treatment in association with vitamin D or its metabolites may be essential.

Insulin secretion in children with growth retardation.

The effect of tolbutamide administration on insulin secretion was studied in 69 children with growth retardation. Diminished insulin secretion was found in all the patients, compared to the control group. This insulin deficit was most evident in patients with isolated, total GH deficiency and least evident in children with idiopathic short stature. Intermediate values were found in dwarfism due to isolated, partial GH deficiency. These results favour the hypothesis that hypoinsulinism contributes to the somatotropin deficiency in causing growth retardation.

Harmonic dwarfism, lymphopenia, deficit of IgA and IgE in a 6-year old boy.

A six-year old boy who had suffered from the age of two with chronic diarrhea has been found to be severely retarded in statural growth. Examinations discovered marked lymphopenia with a T lymphocyte defect accompanied by absent IgA and IgE. In contrast with other cases described in literature, in this case the immunodeficiency was not accompanied by bone or cartilage alterations. The only factor apparently responsible for his lack of growth was the malabsorption.

Disseminated arthritis and osteitis by Candida albicans in a two month old infant receiving parenteral nutrition.

The case of a two-month -old female infant, who after a severe diarrhoea treated with prolonged intravenous infusion in peripheral veins alternated with total parenteral feeding, developed a Candida albicans septicemia (accompanied by disseminated intravascular coagulation syndrome) is reported. The course of her disease was also complicated by multiple foci of osteoarthritis in both knees, in the left hip and in several long-bones. Radiographically the foci of Candida osteitis appeared as fine erosion of the cortex and minute round areas of osteolysis in the spongiosa, surrounded by a rim of perifocal sclerosis. During the acute stage of Candida sepsis a transitory cellular immunodeficiency was present. Treatment of Candida infection by 5-fluorocytosine was followed by complete recovery.

Clinical and immunological improvement in a patient with chronic mucocutaneous candidiasis treated with transfer factor.

In a 19 year old patient suffering from CMC since the first months of life, clinical improvement accompanied by correction of the immunologic defect was achieved by Transfer Factor therapy. After 12 months from the last administration of Transfer Factor the improvement persisted. The positive outcome of the treatment in this disease is not constant. Possibly only patients with cellular immunologic defects are susceptible of a favourable response, moreover it is thinkable that the quality of Transfer Factor and the dosage administered must play a role.

[A simplified micromethod for the measurement of leukocyte candidacidal activity (author's transl)]. / Micrometodo semplificato per la determinazione dell'attivita' candidacida dei leucociti

A technicall simple micromethod for the assessment of leukocyte candidacidal activity is described. It is based on the alterations in Giemsa staining characteristics which Candida albicans cells develop when ingested by glass-adhering phagocytes. This method, which requires small quantities of whole blood and produces reliable results, may be of promising clinical usefulness for detecting primary and secondary phagocyte candidacidal defects in patients with chronic or recurrent localized and systemic candidiasis.

[A simplified micromethod for the measurement of leukocyte chemotaxis (author's transl)]. / Micrometodo semplificato per la determinazione della chemiotassi leucocitaria

A new in vitro micromethod for the assessment of chemotaxis, based on the measurement of glass-adhering phagocyte migration through a cellulose membrane filter in a standard tissue culture chamber, is described. This technically simple method, which requires only small volumes of whole blood and produces reliable results, may be of promising clinical usefulness for the study of the several disease states related to abnormalities of chemotaxis.

Thymus transplantation. Reconstitution of cellular immunity in a four-year-old patient with T-cell deficiency.

The case is reported of a 4-year-old girl affected with recurrent infections; anaemia, thrombocytopenia, haemorrhages and hepatosplenomegaly. Immunological investigations revealed a defect in cellular immunity related to the thymus-dependent system, hypergammaglobulinaemia (especially of class IgE), and very high titres of antibodies against Epstein-Barr virus (EBV). After foetal thymus transplantation, correction of the immunological defect and significant clinical improvement were noted, as well as a decrease of IgE and EBV antibody titres.