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Biomedical subjects

C Borgna-Pignatti

Publications and source records attributed to C Borgna-Pignatti.

At least 19 recordsLinked to original sources
PubMed1994

Regulation of erythropoietin production in a case of congenital erythropoietin-dependent pure erythrocytosis.

In a patient with congenital erythropoietin-dependent pure erythrocytosis (EDPE) associated with hypersensitivity of erythroid progenitor cells to erythropoietin (Epo), the investigations planned to elucidate the mechanism responsible for hormone hyperproduction revealed that Epo synthesis was (1) independent of normal oxygen-mediated feedback induced by phlebotomy; (2) not modulated by adenosine as a second messenger (the treatment with the adenosine antagonist theophylline in fact left unchanged the serum Epo levels); and (3) uninfluenced by iron therapy. The Epo dose-response curve for growth of erythroid progenitor was similar to that of three age-matched thalassemia patients with increased serum Epo levels, (sEpo) suggesting that the observed erythroid progenitors hypersensitivity to Epo could represent an ex vivo artifact induced by the increased sEpo levels.

Bloodletting↗
PubMed1994

Thymic cyst appearing after treatment of mediastinal non-Hodgkin lymphoma.

We report the first case of a thymic cyst appearing in the course of treatment for non-Hodgkin lymphoma of the anterior mediastinum. The patient was a 9-year-old child in whom an abnormal contour of the left cardiac border persisted after chemotherapy, suggesting residual disease. The mass was found at thoracotomy to be a benign thymic cyst. The lesion was not present 2 years previously, and most likely represented cystic degeneration of the thymus, secondary to lymphomatous involvement. CT scan was not helpful in distinguishing the cystic lesion from residual lymphoma.

Child↗
PubMed1994

Clinical manifestations and therapy of transfusional haemosiderosis.

Long-term blood transfusions lead to the accumulation of iron that in the absence of chelation therapy causes complications such as liver cirrhosis, growth failure, hypogonadism, hypothyroidism, hypoparathyroidism, diabetes and myocardiopathy. The last still represents the most frequent cause of death in haemosiderotic transfusion-dependent patients. At the moment the only chelator widely used is desferrioxamine (DFX). The drug works best when administered as a continuous infusion, mainly by the subcutaneous route. To patients with severe iron overload, impending organ failure, or poor compliance to chelation, DFX can be administered intravenously, through an externalized central catheter or, preferably, a subcutaneous port. Several studies have shown the effectiveness of DFX in reducing the iron burden, thus preventing the complications, once considered inevitable, of iron overload, and even in reverting some, but not all, of the iron-induced dysfunctions. Practical and psychological support are necessary to ensure satisfactory compliance with a therapy that is cumbersome and difficult. Toxic effects of DFX such as growth failure, hearing impairment and bone abnormalities seem to occur mainly in patients who have received high doses of DFX despite a low iron burden. Visual loss and renal and pulmonary toxicities, on the contrary, seem to be more directly related to high DFX peak doses administered irrespective of the patient's amount of iron overload. After bone marrow transplantation, phlebotomy or erythrocytoapheresis might be necessary to reduce further the iron accumulated during years of transfusions.

Adolescent↗
PubMed1994

Treatment of chronic childhood immune thrombocytopenic purpura with intramuscular anti-D immunoglobulins.

Seven patients with chronic immune thrombocytopenic purpura (ITP) were treated with intramuscular anti-D (anti-D IgG) five times, on an alternate-day basis, or until a platelet count of 100 x 10(9)/l was achieved, and, subsequently, when necessary to maintain platelet counts above 50 x 10(9)/l. Five patients responded to therapy, two of whom entered long-term remission. Although signs of haemolysis were present in all patients, anaemia was never a problem. No patient developed haematomas at the site of injection. We suggest that intramuscular anti-D represents a safe and relatively inexpensive alternative to intravenous gamma globulins (IVGG) for children with severe chronic ITP.

Adolescent↗
PubMed1990

Transient focal leukoencephalopathy following intraventricular methotrexate and cytarabine. A complication of the Ommaya reservoir: case report and review of the literature.

A 14-year-old boy, suffering from acute lymphoblastic leukemia with meningeal involvement, was treated with intraventricular methotrexate and cytosine arabinoside, administered via an Ommaya reservoir (OR). Three months later, right occipital headache, vomiting, and lethargy appeared. Cerebrospinal fluid specimens showed increased proteins and a right frontal slow-wave focus was evident on the EEG recording. The computed tomography scan revealed white matter hypodensity within the right frontal and rolandic regions. After injection of medium contrast, an abscesslike hyperdensity appeared, surrounding both a well-placed cannula tip and the right frontal horn of the lateral ventricle. Brain swelling and shift signs were also evident. Nine cases of focal methotrexate leukoencephalopathy have been previously reported, and in six of these there was a misplaced OR cannula tip. The focal methotrexate leukoencephalopathy seems to be related to the neurotoxicity of the drugs administered, and may also exist with a well-placed OR cannula tip. Immediate removal of the catheter may be associated with a benign evolution.

Adolescent↗
PubMed1989

Survival and causes of death in thalassaemia major.

Survival and causes of death were studied in 1087 Italian patients with thalassaemia major who were born on or after Jan 1, 1960. At the age of 15 years, the Kaplan-Meier estimate of survival after the first decade of life was 80.6% for subjects born in 1960-64, 84.2% for those born in 1965-69, and 96.9% for those born in 1970-74. At the age of 20 years, survival from the age of 10 was 59.1% for patients born in 1960-64, and 70.2% for those born in 1965-69; at 25 years, survival from the age of 10 was 40.7% in the 1960-64 cohort. Overall survival from birth for patients born in 1970-74 was 97.4% at 10 years, and 94.4% at 15 years. The most common cause of death was heart disease, followed by infection, liver disease, and malignancy.

Adolescent↗
PubMed1989

Thiamine-responsive anemia in DIDMOAD syndrome.

Two children with the DIDMOAD syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, deafness) developed a megaloblastic and sideroblastic anemia, neutropenia, and borderline thrombocytopenia. Plasma thiamine concentration was low in one patient and normal in the other; in both children, thiamine pyrophosphate in erythrocytes and thiamine pyrophosphokinase activity were lower than the lowest values observed in control subjects. A month after institution of treatment with thiamine, the hematologic findings had returned to normal and the insulin requirements had decreased. Withdrawal of thiamine repeatedly induced relapse of the anemia and an increase in insulin requirements. We propose that an inherited abnormality of thiamine metabolism is responsible for the multisystem degenerative disorder known as DIDMOAD syndrome.

Anemia, Macrocytic↗
PubMed1988

Birth defects in the Seveso area after TCDD contamination.

A study on the frequency of birth defects was conducted in the area around Seveso, Italy, which was contaminated by 2,3,7,8-tetrachlorodibenzo-p-dioxin in July 1976; this has been the largest population ever exposed to dioxin. From Jan 1, 1977, to Dec 31, 1982, a total of 15,291 births (still and live) were examined, and malformations were reported to an ad hoc birth defects registry. In the most highly contaminated area, 26 births were observed. None of these infants had any major structural defect. Two infants had mild defects. The frequencies of major defects detected in the areas of low or very low contamination were 29.9/1000 and 22.1/1000, respectively. A frequency of 27.7/1000 was registered in the control area. Relative risks were calculated for specific categories of birth defects and for grouped malformations. Although the data collected failed to demonstrate any increased risk of birth defects associated with 2,3,7,8-tetrachlorodibenzo-p-dioxin, the number of exposed pregnancies was not big enough to show a low and specific teratogenic risk increase.

Accidents, Occupational↗
PubMed1988

Electroretinographic and visual-evoked potential abnormalities in patients with beta-thalassemia major.

Various ocular abnormalities have been reported in patients with thalassemia, and have been, for the most part, attributed to the toxic effects of high-dose desferrioxamine (DFO). We have performed an electroretinographic and visual-evoked potential (VEP) study in 31 thalassemic patients who had never received high doses of DFO. The abnormalities found were very similar to those reported in early siderosis bulbi and included a b1-wave of significantly higher amplitude at 1 min and at the alpha point. VEPs showed a N1-P1 amplitude significantly greater than in controls. These findings, which were more marked in older patients, point to an important causative role of iron in their genesis.

Adolescent↗
PubMed1986

Hepatocellular carcinoma in thalassemia major.

The occurrence of hepatocellular carcinoma in a 22-year-old man with thalassemia major is reported. As a result of transfusional hemochromatosis, this patient had already developed diabetes, hypogonadism, heart failure, and the sicca syndrome; he was serum and tissue HBsAg negative. Liver iron concentration measured postmortem was found to be 50 times normal. Multiply transfused patients are at risk of developing hepatocellular carcinoma. Serial measurements of serum alpha-fetoprotein should permit early detection of the tumor and reduce mortality. Preventive measures include early immunisation against hepatitis B virus and prevention of iron accumulation by intensive use of desferrioxamine. Treatment of hemochromatosis-associated hypogonadism with androgens should be considered with caution.

Adult↗
PubMed1985

Growth and sexual maturation in thalassemia major.

Growth and sexual development were evaluated in 250 adolescents with beta-thalassemia major. Before transfusion hemoglobin concentration had not been less than 9.5 gm/dl in the last 5 years; desferrioxamine had been administered for 7 to 10 years, including by the subcutaneous route for 3 years. Thirty-seven percent of patients were found to be 2 SD below the mean for normal height; after age 14 years the percentage was 62% for males and 35% for females. Eighty-three percent of males and 75% of females had delayed skeletal maturation. Complete lack of pubescent changes was present in 38% of females and 67% of males aged 12 to 18 years. Only 19% of females had experienced menarche; secondary amenorrhea intervened in a third of them. A multiple regression analysis of indicators of pubertal development with age, age at first transfusion, age at splenectomy, number of transfusions, serum transaminase and ferritin, and duration and intensity of chelation therapy failed to identify the factors responsible for the variation observed in sexual maturation among patients with thalassemia.

Adolescent↗
PubMed1985

Triosephosphate isomerase deficiency: 2 new cases.

2 new cases of triosephosphate isomerase (TPI) deficiency associated with severe haemolytic anaemia in 2 unrelated Italian families are described. Only 1 case was extensively investigated. TPI deficiency was detectable in erythrocytes, leucocytes, platelets and plasma. The mutant enzyme showed normal Km for GAP and increased Km for DHAP, with an higher than normal equilibrium constant, decreased thermostability, and abnormal electrophoretic pattern due to the lack of the fastest moving component. The immunological characterization revealed a lower than normal inactivation by specific antiserum, while the double immunodiffusion pattern and the precipitin curve were normal. Lymphocyte, granulocyte and platelet functions were impaired.

Blood Platelets↗
PubMed1985

Marrow transplantation for thalassemia.

Despite modern therapeutic regimens, thalassemia major remains a severe disease with an uncertain ultimate prognosis. Alternative and more definitive forms of treatment are actively sought; bone marrow transplantation is one of these. As of May 1984, data were available on 51 thalassemic children who had undergone the procedure: 29 of them are free of thalassemia 2 to 30 months after transplantation; 13 have died; 9 are alive with thalassemia after autologous reconstitution. Future developments in the field of transplantation should make the procedure safer and also render it available to the vast population of multiply transfused and hemosiderotic thalassemic patients who will not benefit from the improvement of conventional therapy.

Adolescent↗