-
[show abstract]
[hide abstract]
ABSTRACT: Erythropoietin (Epo) serum levels were evaluated by an ELISA method in 52 malaric patients (26 males and 26 females, age
range 1–37 years). Of these, 23 were under 14 years old (17 males, 6 females). The good inverse correlation between Epo levels
and haemoglobin (Hb) observed in most cases demonstrated that anaemia associated with falciparum malaria is an effective stimulus
for Epo production. In many subjects, however, particularly children and pregnant women with Hb levels of less than 8 g/dl,
renal Epo production may be inappropriately low for the degree of anaemia present.
Comparative Clinical Pathology 06/2002; 11(3):148-152.
-
G Aguiari,
S Savelli,
M Garbo,
A Bozza,
G Augello,
L Penolazzi, E De Paoli Vitali,
C La Torre,
G Cappelli,
R Piva,
L del Senno
[show abstract]
[hide abstract]
ABSTRACT: Autosomal dominant polycystic kidney disease (ADPKD) is a common disorder mostly characterized by cyst formation in kidney tubules. The majority of ADPKD cases is caused by mutations in the PKD1 gene, but no prevalent mutation has been reported. By heteroduplex analysis of the 3' single-copy region of the gene, we have searched for mutations in subjects from 40 ADPKD families of Northern Italy. Seven novel polymorphisms and three novel disease-associated mutations (R3718Q, L3851P and IVS45+56del25) were identified. Both missense mutations are located in the major extracellular loop of polycystin-1. The 25 bp deletion inside intron 45 did not affect 5' and 3' consensus splicing sites, but caused a 56 nucleotide out of frame-deletion due to activation of a cryptic 3' splice site in exon 46. The mutated RNA should produce a truncated polycystin 1 at the G binding peptide in the intracellular C-terminal end of the protein. RT-PCR analysis showed that the disease-associated mutations were present in transcribed sequences. In particular, RNA analysis of BHK cells transfected with PKD1 genomic DNA, including the deleted intron, showed that no normal transcript is produced by the deleted gene. This intronic mutation, found in a large pedigree, seems to be associated with a prevalence of cerebrovascular disease.
Human Mutation 12/2000; 16(5):444-5. · 5.69 Impact Factor
-
Nephrology Dialysis Transplantation 05/1999; 14(4):1043-4. · 3.40 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: We report a large three-generation autosomal dominant polycystic kidney disease family from Northern Italy found to be associated with the PKD2 locus. Hepatic involvement (liver cysts, fibrosis, cholelithiasis or jaundice), subarachnoidal hemorrhage (1 case) and esophageal diverticula (1 case) were present in affected individuals. Among the older members, the males (aged 54-61 years) had hepatic cysts or fibrosis and were on chronic hemodialysis, the females (aged 69 and 70 years) had hepatic cysts, hepatomegaly, mild fibrosis and a mild and moderate renal impairment, respectively. In this family, clinical findings do not differ substantially from those reported for PKD1.
American Journal of Nephrology 02/1997; 17(5):458-61. · 2.54 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Both the plasma determinations of erythropoietic (EPO) and transferrin receptor (TfR) would provide a good characterization of anemia especially when mixed erythron disorders underlie, such as in renal failure. Immunologic assays of EPO and TfR, as well as standard hematologic determinations (hematocrit, reticulocyte count, serum iron, transferrin, ferritin) were performed in patients with chronic renal failure (CRF), in regular dialysis treatment (RDT) and in transplanted (TX) patients. In nonanemic TX patients both EPO and TfR ranged normally, whereas in anemic TX ones (Hct < 40%) both values were increased suggesting the physiologic response both of the kidney and of the erythron to decreased red cell mass. In transitory posttransplant erythrocytosis the increased values of TfR, with normal EPO values, would hypothesize a defective feedback to EPO release. Both EPO and TfR values were found increased in TX patients with adult polycystic kidney disease with persistent erythrocytosis (Hct > 50%), thus confirming previous observations. In CRF and RDT patients, all anemic, both EPO and TfR were normal, even though significantly low with respect to the degree of anemia. In RDT seriously anemic patients, the administration of recombinant human EPO induced different patterns of bone marrow response. We conclude that the determination of TfR would provide further information on renal anemia since the receptor increase mostly preceded the rise of Hct, evidencing those patients who will not have an effective bone marrow response to the therapy.
Nephron 01/1996; 72(4):552-6. · 13.26 Impact Factor
-
Clinical nephrology 12/1995; 44(5):343-5. · 1.17 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: To understand how to prevent the diffusion of hepatitis C virus (HCV) in dialysis units, 289 chronic dialysis patients treated in a renal department from the beginning of 1990 to June 30, 1993, were studied. Patients were screened monthly for alanine aminotransferase values and every 3 months for anti-HCV antibodies. At the beginning of the study the prevalence of anti-HCV antibodies was 24.7%. Two study groups were defined. In the first, anti-HCV-positive patients were treated on separate machines; in the second, 13 anti-HCV-positive and 13 negative patients shared the same machines. Patients in the study were treated with traditional dialysis, employing low-permeability membranes and disposable dialysate circuits on machines without an ultrafiltration control device. The 'universal precautions' were rigorously applied. The use of blood transfusions was markedly reduced. Although new patients starting dialysis treatment revealed a high frequency of HCV positivity (10.8%), the overall prevalence of HCV infection in the department did not increase during the follow-up period. Furthermore, no seroconversion was found in patients on dialysis treatment, not only in the section where anti-HCV-positive patients were treated on separate machines, but also in the section where anti-HCV-positive and anti-HCV-negative patients shared the same machines. The possibility of an intradialytic diffusion of HCV appeared to be very low and the treatment of infected patients on separate machines not strictly necessary.
Nephron 02/1995; 70(3):301-6. · 13.26 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Two (CA) microsatellite polymorphisms have been studied in 209 subjects from Northern Italy, members of 27 Polycystic Kidney Disease families. Polymorphic alleles were analyzed by using a labelled PCR. Results obtained show that these markers highly improve the presymptomatic diagnosis of the disease in subjects at risk. In addition, our findings suggest that a region with a high recombination frequency should exist between PKD1 and SM7.
Bollettino della Società italiana di biologia sperimentale 05/1994; 70(4):129-33.
-
[show abstract]
[hide abstract]
ABSTRACT: Some chemical agents induce kidney cystic changes in vivo comparable to human multicystic kidney disease. The biochemical aspects of human tubular cells were analysed by in vitro culture in the presence of nordihydroguaiaretic acid (NDGA). The uptake of 3H-thymidine in cultured cells in the presence of NDGA was comparable with control cultures, while 3H-hydroxyproline incorporation produced elevated values. The results suggest that NDGA in vitro induces modifications which may be related only to the synthesis of basement membrane components.
Cytobios 02/1994; 78(312):19-22.
-
[show abstract]
[hide abstract]
ABSTRACT: Recombinant human erythropoietin (EPO), commercially available since 1988, is thought to be used by athletes in aerobic sports for the purpose of increasing oxygen transport and aerobic power. In an attempt to identify EPO administration, we have studied the peripheral blood of 20 subjects practising sports at an amateur level. Automated cytometry was performed on the blood samples before and during 45 days of EPO treatment. The same hematological indices were determined for a control population that consisted of 240 elite athletes from various sports. As expected following EPO treatment, RBC, [Hb] and Hct increased significantly (increments of 8%, 6.3% and 11%, respectively). A significant increase in reticulocyte count was also observed. In addition, automated erythrocyte analysis showed a significant increase in cells with a volume > 120 fl and hemoglobin content (HC) < 28 pg (hypochromic macrocytes, or MacroHypo): 0.06 +/- 0.09% before EPO, 0.48 +/- 0.63% after EPO. The EPO-treated subjects differed from the control population having higher values for Hct, mean corpuscular volume (MCV), Macro and MacroHypo. To investigate the possibility of using such variations in blood parameters to identify EPO treatment, individual values for Hct, MCV, Macro and MacroHypo for treated subjects and controls were plotted. Using the percentages of MacroHypo, a cut-off value surpassed in approximately 50% of the treated subjects and in none of the controls was established.(ABSTRACT TRUNCATED AT 250 WORDS)
International Journal of Sports Medicine 09/1993; 14(6):307-11. · 2.43 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Peritonitis and exit-site tunnel infection are frequent causes of CAPD drop out. We studied 9 patients, 8 treated by CAPD and 1 by IPD. These patients underwent sonographic and scintigraphic study of the abdomen. All scintigraphic examinations showed a visceral uptake. In two cases, sub-clinical bowel inflammation, demonstrated by scintigraphic study, preceded a gram negative peritonitis. The scintigraphic study with radiolabelled white blood cells may be useful in identifying chronic aseptic inflammations and some bowel and exit-site conditions which are possible risk factors in some cases of peritonitis.
Advances in peritoneal dialysis. Conference on Peritoneal Dialysis 02/1992; 8:39-41.
-
[show abstract]
[hide abstract]
ABSTRACT: Atrial natriuretic peptide (ANP), plasma renin activity (PRA), plasma aldosterone and urinary fractional excretion of sodium (%FENa) were measured in 22 athletes before and after 1 h running. After exercise the hormones increased significantly, while %FENa decreased. In fact, the percent PRA increases resulted higher than the percent ANP increases with a significant inverse correlation. It is concluded that hemodynamic changes during strenuous and prolonged physical exercise lead to the inhibition of the natriuretic properties of ANP by stimulating the renin-angiotensin-aldosterone system, although a feedback mechanism of modulation between ANP and PRA seems to occur.
Nephron 02/1991; 57(1):60-3. · 13.26 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Twenty patients with renal failure and severe anemia (hemoglobin range 6.6-8.7 g/dl) on thrice-weekly maintenance hemodialysis were treated with recombinant human erythropoietin (rHuEPO). After three months of intravenous (iv) therapy the hemoglobin increase averaged 2 g/dl, and was steadily maintained even after two months of subcutaneous (sc) therapy. The significant increase of macrocyte counts, determined by an automated red blood cell counter after both steps of therapy, suggested the release of young red cells (large cells) into blood circulation. This assumption may be supported by the significant increase of the red cell creatine contents. 2,3-diphosphoglycerate (2,3-DPG) levels of the erythrocytes did not significantly change after rHuEPO administration.
Biomedecine [?] Pharmacotherapy 02/1991; 45(8):349-52. · 2.00 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: To define the prevalence of non-A, non-B hepatitis, antibodies to HCV were detected in 193 patients on renal replacement therapy (52 transplant and 141 hemodialysis patients) and in 50 staff members of a Nephrology Department. Unequivocal seroconversion was documented in 5 transplant (9.6%) and in 26 dialysis patients (18.4%). In the dialysis population, the prevalence of anti-HCV antibodies was evaluated in patients grouped according to the number of blood transfusions and to the different sections of dialytic treatment. The most striking findings were the marked differences in the prevalence of anti-HCV antibodies among patients treated in different sections (from 0% to 70%), and the presence of a significant increase in alanine-amino-transferase (ALT) concentrations in 14 anti-HCV negative patients. The results suggest that the diffusion of non-A, non-B hepatitis is mainly transfusion-related, with the possibility of significant environmental diffusion related to the violation of infection-control measures. The current immunoassay is probably unable to detect the actual frequency of the infection.
The International journal of artificial organs 12/1990; 13(11):737-41. · 1.86 Impact Factor
-
European Journal Of Haematology 10/1990; 45(3):178-9. · 2.61 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: 31 patients with successful kidney grafts were studied. Ep, Ht, Hb and T lymphocytes were determined. Native and grafted kidneys were studied by ultrasonography. After KT, 45% of patients had PTE and in 71% of these a spontaneous regression was observed. Mean serum Ep activity in patients with and without PTE was significantly higher than in healthy controls. Different erythroid colony growth sensibility and responsiveness to higher serum Ep (PTE and non-PTE patients) may be due to T3 cell interaction with BFU-E.
Haematologia 02/1990; 23(1):21-5.
-
Nephron 02/1989; 51(3):433-4. · 13.26 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Serum erythropoietin (Epo) activity, hemoglobin (Hb), and hematocrit (Ht) were determined in 21 cross-country skiers during the training season. The Epo levels were not significantly reduced in the skiers relative to the normal population (P less than 0.01 and P less than 0.001, respectively). In 11 athletes Epo, Ht, urinary gamma-glutamyltransferase, N-acetyl-beta-glucosaminidase, and microalbuminuria were determined before and after a 50-km ski race at 1600 m above sea level. A significant increase of these variables (except for Ht) was found after the competition (P less than 0.001). It is concluded that while the reductions in Hb and Ht, which are typical of several endurance exercises, are not accompanied by a renal hypoxia sufficient to stimulate Epo overproduction, the renal hypoxia reached during the strenuous exercise of the race at altitude may be effective in determining blood increases in Epo.
International Journal of Sports Medicine 05/1988; 9(2):99-101. · 2.43 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: We studied 18 well-trained male long-distance runners during the basal training. Haematologic parameters, serum iron and ferritin, red cell 2,3-diphosphoglycerate (2,3-DPG) and creatine contents, serum erythropoietin were investigated before and after the daily training and were compared with a group of healthy untrained controls. Red blood cell parameters did not change with the training, even though they were significantly lower than in controls. However, a true anaemic state cannot be suggested because the haemoglobin values fell into the lower limit of the normal range, even before the exercise. A slight but significant increase of neutrophils was found after the exercise, while no alteration of platelet count was observed. Serum iron and ferritin ranged normally. No increase of red cell 2,3-DPG was observed after the exercise, but it was significantly higher than in controls. After the exercise red creatinine was slightly increased. The athletes' erythropoietin was higher than that of controls, and showed a further increase after the training.
Acta Haematologica 02/1988; 80(2):95-8. · 1.35 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: A highly polymorphic DNA probe (3'HVR) with genetic linkage to the locus of autosomal dominant polycystic kidney disease was used for screening. Families with subjects at risk were from the Po river delta region (Northern Italy), where the disease accounts for 24% of the demands for dialysis. 3'HVR alleles were investigated in white blood cell DNA from 142 members of 18 families. The genomic marker was found informative in 88% of cases. Two recombinations between the marker and the disease locus were observed in 79 meioses. In 42 of the subjects at risk the results of DNA analysis and renal ultrasonography were compared. In 36 subjects the tests confirmed each other (18 were positive). In the other six subjects (all under 20 years of age and four under 10) only DNA analysis could diagnose the inheritance of cystic disease in the absence of demonstrable cysts. The findings indicate that in the population of the Po river delta the presymptomatic detection of adult polycystic kidney disease by 3'HVR linkage analysis is feasible in 88% of cases with approximately 95% reliability.
Nephrology Dialysis Transplantation 02/1988; 3(6):752-5. · 3.40 Impact Factor
