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Biomedical subjects

C Borgna-Pignatti

Publications and source records attributed to C Borgna-Pignatti.

53 records · Page 3Linked to original sources
PubMed1984

The sicca syndrome in thalassaemia major.

A 20 year old man with beta thalassaemia developed symptoms of the sicca syndrome. His serum contained rheumatoid factor and antinuclear antibodies. A biopsy specimen of labial salivary gland showed large accumulations of haemosiderin within the parenchymal cells of the acini. Although in this case the sicca syndrome could not be definitely distinguished from Sjögren's syndrome, the patient's HLA type was not the one usually associated with Sjögren's syndrome. Histological appearances suggested that the causative factor of the sicca syndrome was iron overload owing to an intensive blood transfusion regimen.

Adult↗
PubMed1984

Penicillin compliance in splenectomized thalassemics.

Compliance with penicillin prophylaxis after splenectomy was studied in 42 thalassemic children and adolescents. Urine samples were tested five times per patient for the presence of penicillin by the Sarcina lutea inhibition test. Only 7% of patients were found to be absolute noncompliers, while an additional 14% had a compliance considered to be insufficient. Noncompliers tended to have been splenectomized more than 5 years before, while couples of affected siblings were uniformly full-compliers. No relation was found with age, presence of healthy siblings in the household, chronic disease or previous severe infections. Knowledge of the risks of severe infection after splenectomy was uniformly good. We conclude that compliance with penicillin prophylaxis in splenectomized thalassemics is good (79%) and that close contact between patients and medical staff is important in its promotion.

Adolescent↗
PubMed1984

Spleen iron content is low in thalassemia.

We measured the iron content of the spleen in 12 patients with thalassemia major, three with thalassemia intermedia, and one with sickle-thalassemia. The iron content was unexpectedly low in all patients (0.25-2.4 g, median 1.32). These data suggest that iron deposited in the reticuloendothelial cells of the spleen is rapidly removed and redistributed throughout the body. The preferential removal of iron from the spleen did not seem to be a result of chelation therapy.

Adolescent↗
PubMed1983

Internal distribution of excess iron and sources of serum ferritin in patients with thalassemia.

Liver and spleen iron concentrations, serum ferritin level and binding of S-ferritin to concanavalin A (Con A) were measured in 12 patients with thalassaemia major or intermedia at the time of splenectomy. All these subjects had increased liver iron concentration, most of them had hepatic fibrosis but none of them had histological evidence of chronic hepatitis. No patient had ascorbic acid deficiency. Serum ferritin concentration was increased in all cases, ranging from 266 to 5504 micrograms/l. In all but 2 subjects most of the protein did not bind to Con A, thus behaving as tissue ferritin. There were highly significant correlations between serum ferritin concentration, amount of blood transfused and liver iron concentration. On the average, iron concentration in the liver was about 3 times that in the spleen. The findings obtained suggest that in patients with thalassaemia major or intermedia most of the iron is deposited in parenchymal tissues and most of the S-ferritin derives by leakage from the cytosol of iron-loaded parenchymal cells. S-ferritin is a valid index of liver iron overload in thalassaemic patients without complications such as viral hepatitis and/or ascorbic acid deficiency.

Blood Transfusion↗
PubMed1983

Factitious hypertension with mineralocorticoid excess in an infant.

A 2-month-old breast-fed baby is described, who, admitted for a prolongation of the QT interval on ECG, was found to be severely hypokalemic, alkalotic and hypertensive (blood pressure 200/100 mm Hg). Marked generalized hypotonia was present, and length was less than 3% for age. The results of endocrinological evaluation showed profound suppression of the pituitary-adrenal function and of the renin-aldosterone mechanism. CT scan, cavography and pyelography were normal. A pharmacological cause for the symptoms was sought and found: the mother had been using for the care of bruised nipples a cream containing 1% 9-alpha-fluoroprednisolone-21-acetate. Blood pressure remained elevated for 6 months, but became normal after one year, and growth has resumed normally. The possible differential diagnoses are considered, and the risks presented by topical steroids are emphasized.

Adrenal Gland Diseases↗
PubMed1983

Pulmonary arteriovenous fistulas: an unusual complication of congenital hepatic fibrosis.

A 16-year-old boy with congenital hepatic fibrosis, on whom a portocaval anastomosis was performed because of bleeding esophageal varices, developed lip cyanosis, exertional dyspnea, and clubbing of the fingers 7 years postoperatively. This progressive syndrome was caused by a right-to-left shunt due to the presence of pulmonary arteriovenous fistulas. Increased erythrocyte sedimentation rate, hypergammaglobulinemia, and histological features of cholangitis were also present. It is proposed that this unusual pulmonary complication of congenital hepatic fibrosis could be due either to congenital pulmonary abnormalities or to a chronic unrecognized cholangitis causing a progressive deterioration of liver histology and function, with subsequent opening of pulmonary arteriovenous shunts.

Arteriovenous Fistula↗
PubMed1980

[Benign recurrent cholestasis].

A 14-year-old girl with recurrent episodes of cholestatic jaundice since 7 years of age is presented. Absence of extrahepatic obstruction, recurrent character of jaundice and liver biopsy pattern suggest the diagnosis of benign recurrent cholestasis. Spontaneous variations in the clinical course of the illness make it difficult to evaluate the therapeutic value of drugs.

Adolescent↗
PubMedDate not supplied

Frequency of factor V Leiden in juvenile migraine with aura.

Patients with migraine are known to be at risk for stroke. It has been reported that in a group of patients with cerebral ischemia and the Leiden mutation of factor V, 67% had classical migraine. We have studied the frequency of this mutation in a group of Italian children and adolescents affected by migraine with aura. The Leiden mutation was detected in 2 (3.5%) of 57 patients and in 8 (3.7%) of 219 controls. The 2 patients carrying the mutation had no peculiar characteristics as compared with the rest of the migrainous population. In our study, the frequency of the Leiden mutation in patients was not different from that of controls. These data contrast with those collected in the Finnish population and in a group of northwestern Italian adult patients, but agree with results previously reported from The Netherlands.

Adolescent↗
PubMedDate not supplied

Methods for evaluating iron stores and efficacy of chelation in transfusional hemosiderosis.

An accurate determination of the total amount and distribution of body iron stores is essential for prognostic purposes and to evaluate the efficacy of chelation therapy. In the clinical setting, a rough estimate of the total body iron burden may be obtained in patients with transfusion-dependent anemias by calculating the amount of blood administered plus the amount absorbed by the gastrointestinal route, which is influenced by the level of Hb and by bone marrow activity. An increase in serum iron and a decrease in total iron binding capacity are early indicators of iron overload, but their sensitivity and specificity are not very high. In normal individuals, serum ferritin correlates well with iron stores, as measured by phlebotomy, and with directly measured liver iron. However, plasma ferritin, being an acute phase reactant, is increased in cases of chronic disease, disseminated malignancy, or inflammatory disorders. Non-transferrin bound iron, i.e. iron that circulates in plasma unbound to transferrin, is potentially toxic since it is capable of taking part in free radical-mediated reactions that result in irreversible tissue damage. This iron can be measured with a HPLC based assay. At present the most accurate way of estimating the iron burden is by direct measurement of iron concentration in tissues. The liver is the most accessible. The measurement is done by atomic absorption spectrometry on ashed or lyophilized samples obtained by needle biopsy, and correlates well with the total amount of blood transfused and with the extent of hepatic fibrosis.(ABSTRACT TRUNCATED AT 250 WORDS)

Chelation Therapy↗