PubMed Health⌕ Search

Biomedical subjects

G Pelissero

Publications and source records attributed to G Pelissero.

14 recordsLinked to original sources
PubMed2001

[Accreditation of hospital and local health unit management].

The authors state that an authoritative Clinical Director of a General Hospital, an active and efficient leadership of a Public Health District or Local Health Unit are very important to allow Italian Health Care System to cope with present and future challenges. The medical management must be professionally specialistic and be object of accreditation. This must be the target of professional training so that Medical Management Staff can have the necessary competence to carry complex management activities correctly out.

Accreditation↗
PubMed1999

A case of complete adenylate kinase deficiency due to a nonsense mutation in AK-1 gene (Arg 107 --> Stop, CGA --> TGA) associated with chronic haemolytic anaemia.

Two siblings of Italian origin with mild chronic haemolytic anaemia, psychomotor impairment and undetectable adenylate kinase (AK) activity are reported. The other red cell enzyme activities were normal except for a slight decrease of PFK. 2,3-DPG levels were increased in both siblings, and AMP decreased in one only. The parents were not consanguineous and displayed intermediate AK activity. The sequence of complete erythrocyte AK-1 cDNA showed the presence of a nonsense homozygous mutation at codon 107 (CGA --> TGA, Arg --> Stop) in the siblings. The mutation results in a truncated protein of 107 amino acids in comparison with the 194 of the normal one. Moreover a 37 bp deletion in the first part of exon 6 (from nt 326 to nt 362 of the cDNA sequence) was detected in one allele; this deletion is not likely to further affect the enzyme structure, being localized after the stop codon. The new variant was named AK Fidenza, from the origin of the patients.

Adenylate Kinase↗
PubMed1997

Molecular characterization of PK-LR gene in pyruvate kinase-deficient Italian patients.

We studied the PK-LR gene in 15 unrelated Italian patients with congenital hemolytic anemia associated with erythrocyte pyruvate kinase (PK) deficiency. Fourteen different mutations were detected among 26 mutated alleles identified: a five-nucleotide (nt) deletion (227 to 231), two splice-site (1269C and IVS3(-2)c), 10 missense (514C, 787T, 823A, 993A, 994A, 1168A, 1456T, 1529A, 1552A, and 1594T) and one nonsense mutation(s) (721T). Eight of these (deletion 227-231, 1269C, IVS3(-2)c, 514C, 787T, 823A, 1168A, and 1552A) were novel. Moreover, a new polymorphic site was detected in the 3' untranslated region of the mRNA (C/T, nucleotide 1738). The deletion 227-231 causes a stop codon after amino acid 77, probably resulting in an unstable gene product. Mutations 1269C and IVS3(-2)c lead to an alteration of the 5' and 3' splice-site consensus sequence, respectively; cDNA analysis failed to reveal any abnormal transcript, suggesting that these mutations generate an unstable mRNA that is rapidly degraded. Of the five new missense mutations, 823A (Gly275-Arg) and 1168A (Asp390-Asn) involve highly conserved amino acids, 514C (Glu172-Gln) and 1552A (Arg518-Ser), although found in less conserved regions, affect the balance of the electric charges of the protein. Mutation 787T (Gly263-Trp) is likely to determine strong modifications in the local structure of the molecule. The most frequent mutation in Italy appears to be 1456T (seven of 30 alleles), followed by 1529A (three of 30) and 994A (three of 30). A correlation was found between mutations, biochemical characteristics of the enzyme, and clinical course of the disease.

Adolescent↗
PubMed1997

A variant of the EPB3 gene of the anti-Lepore type in hereditary spherocytosis.

The EPB3 gene encodes band 3 (anion exchanger 1) of the red cell membrane. A subset of hereditary spherocytosis (HS) is associated with EPB3 gene mutations and band 3 deficiency. We report a large Italian family in which 10 of the 27 members investigated displayed an autosomal dominant HS. SDS-PAGE revealed a reduction in band 3 in the patients. Screening of the Pst I polymorphic site confirmed the linkage of HS with the EPB3 gene. Analysis of complementary and genomic DNA showed a large additional segment. Nucleotide sequencing disclosed an in-frame duplication of 69 nucleotides (nt) including a triplet of intronic origin and a genuine exonic duplication of 66 nt. Two CCTGC sequences occurred close to one another, one near the intron 12 acceptor splice site (nt -7 to -3), and the other within exon 13 (nt 1494-1498). We assumed that the abnormal allele arose from an unequal recombination event of the anti-Lepore type between the two CCTGC sequences. At the level of the mutated protein, termed band 3 Milano, the additional segment (Gln plus duplication of residues 478-499) corresponded to the last part of the third transmembrane domain (TM3), the entire second outer loop and part of TM4 as it is currently defined in hydropathy analysis. After deglycosylation of band 3, only the normal band was detected, supporting the view that band 3 Milano is probably not incorporated into the membrane.

Adolescent↗
PubMed1996

Seroprevalence of hepatitis B virus markers and risk factors in patients and staff of an Italian residential institution for the mentally disabled.

We conducted a cross-sectional study to evaluate the prevalence rate and risk factors for hepatitis B virus (HBV) infection among residents and staff at the Fatebenefratelli Institute in San Colombano in the province of Milan. We tested serum from 510 patients and 165 staff members. In addition, a medical record and a completed questionnaire were obtained from each patient. A total of 338 (66.5%) residents were found to have markers of HBV infection, including 29 (5.7%) who were identified as carriers. Thirty-nine members of staff (24.1%) showed evidence of HBV infection but only 1 (0.6%) was identified as a carrier. Among patients the prevalence rate of HBV was significantly associated with length of stay and age at admission, as it was with length of employment among staff members. The hepatitis B vaccine was offered to all patients and staff in the institution during 1994. A total of 143 (84%) patients and 111 (90%) members of the staff were vaccinated in the same year. To prevent the further spread of HBV infection in this institution, all current and future residents and staff members should be screened for serological markers for HBV and subjects identified as being susceptible should be vaccinated according to a compulsory routine policy.

Adolescent↗
PubMed1989

Prevalence of HIV in normal and at risk population (seroepidemiological investigation during two years).

In this work we reported the results obtained using two ELISA-tests (the seropositivity was confirmed by Western-Blot) for detection of HIV-Ab in normal and at risk population (according by the classification from C.D.C. 1982) exposed to screening for various, sanitary measures. Our results concerning the percentage of seropositivity to HIV-Ab in drug-addicts (49%) are in agreement with the results obtained in the most qualified Italian Centres. The incidence of congenital infection is high, pointed 50%; the 100% of seropositive children were infected by drug-addicts seropositive parents. Casuistry among haemophilic patients we have demonstrated a greater seropositivity in B haemophilic subjects than A haemophilic ones. The seropositivity (24%) verified among prisoners is totally related to drug-addiction. Prevalence of seropositivity among heterosexual partners of HIV positive subjects was 22% among female partners of infected men, and 9% among male partners of infected women. Checking performed upon nursing staff who casually were contaminated by seropositive patient's blood confirmed 100% of seronegativity after eight months. No seropositive subjects were performed in every not a risk group.

Adult↗
PubMed1983

[Study of a group of subjects occupationally exposed to tartaric acid].

The Authors report the results of an investigation carried out in a factory producing tartaric acid in order to evaluate the effects of occupational exposure to this substance. A group of 44 subjects exposed to the acid and a group of 30 subjects not exposed, as a means of control, were submitted to anamnestic questionnaire, othorinolaringoyatric examination, spirometry, bronchodilatation test with salbutamol. Our data show a higher prevalence of oropharyngeal and cutaneous lesions in the exposed subjects, while no difference between the two groups was found for dental, bronchial and gastric lesions.

Adult↗
PubMed1980

[Genesis of 5th sound. A comparative phonomechanographic and echographic study (author's transl)].

846 children between the ages of 6 and 12 were examined by phonocardiogram. The 5th sound was noted in 30.8% of the subjects examined. It appeared as a single or double vibration of approximately 65 msec from the third sound and corresponds to a small wave "H" of apexcardiogram at approximately 50 msec from the end of "E" wave. From the comparative poligraphic and echocardiographic study, the 5th sound corresponds to one or more added waves (G and G1) between point F and point A of the echogram of the anterior mitral leaflet; they are in exact chronological correspondence with the "H" wave of the APG. The 5th sound is evident and also the added waves of the anterior mitral leaflet (G, g1) when the frequency of the heart is slow. When the frequency increase, the 5th sound blends with the 3rd that appears prolonged and G, G1 waves become a single wave until its disappearents.

Adult↗
PubMedDate not supplied

[E-mail pediatric consultation].

Widespread diffusion of the Internet and of electronic mail allows contacting superspecialists all over the world, asking for information on health topics. We report our experience with e-mail consultation with the parents of the infants born at our hospital.

Child↗