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Biomedical subjects

G Passarino

Publications and source records attributed to G Passarino.

At least 19 recordsLinked to original sources
PubMed1998

Different genetic components in the Ethiopian population, identified by mtDNA and Y-chromosome polymorphisms.

Seventy-seven Ethiopians were investigated for mtDNA and Y chromosome-specific variations, in order to (1) define the different maternal and paternal components of the Ethiopian gene pool, (2) infer the origins of these maternal and paternal lineages and estimate their relative contributions, and (3) obtain information about ancient populations living in Ethiopia. The mtDNA was studied for the RFLPs relative to the six classical enzymes (HpaI, BamHI, HaeII, MspI, AvaII, and HincII) that identify the African haplogroup L and the Caucasoid haplogroups I and T. The sample was also examined at restriction sites that define the other Caucasoid haplogroups (H, U, V, W, X, J, and K) and for the simultaneous presence of the DdeI10394 and AluI10397 sites, which defines the Asian haplogroup M. Four polymorphic systems were examined on the Y chromosome: the TaqI/12f2 and the 49a,f RFLPs, the Y Alu polymorphic element (DYS287), and the sY81-A/G (DYS271) polymorphism. For comparison, the last two Y polymorphisms were also examined in 87 Senegalese previously classified for the two TaqI RFLPs. Results from these markers led to the hypothesis that the Ethiopian population (1) experienced Caucasoid gene flow mainly through males, (2) contains African components ascribable to Bantu migrations and to an in situ differentiation process from an ancestral African gene pool, and (3) exhibits some Y-chromosome affinities with the Tsumkwe San (a very ancient African group). Our finding of a high (20%) frequency of the "Asian" DdeI10394AluI10397 (++) mtDNA haplotype in Ethiopia is discussed in terms of the "out of Africa" model.

Black People↗
PubMed1997

Human genetic affinities for Y-chromosome P49a,f/TaqI haplotypes show strong correspondence with linguistics.

Numerous population samples from around the world have been tested for Y chromosome-specific p49a,f/TaqI restriction polymorphisms. Here we review the literature as well as unpublished data on Y-chromosome p49a,f/TaqI haplotypes and provide a new nomenclature unifying the notations used by different laboratories. We use this large data set to study worldwide genetic variability of human populations for this paternally transmitted chromosome segment. We observe, for the Y chromosome, an important level of population genetics structure among human populations (FST = .230, P < .001), mainly due to genetic differences among distinct linguistic groups of populations (FCT = .246, P < .001). A multivariate analysis based on genetic distances between populations shows that human population structure inferred from the Y chromosome corresponds broadly to language families (r = .567, P < .001), in agreement with autosomal and mitochondrial data. Times of divergence of linguistic families, estimated from their internal level of genetic differentiation, are fairly concordant with current archaeological and linguistic hypotheses. Variability of the p49a,f/TaqI polymorphic marker is also significantly correlated with the geographic location of the populations (r = .613, P < .001), reflecting the fact that distinct linguistic groups generally also occupy distinct geographic areas. Comparison of Y-chromosome and mtDNA RFLPs in a restricted set of populations shows a globally high level of congruence, but it also allows identification of unequal maternal and paternal contributions to the gene pool of several populations.

DNA Probes↗
PubMed1997

Prevalence of myocarditis at autopsy in Turin, Italy.

OBJECTIVE: To evaluate the prevalence of myocarditis in a general hospital in Turin, Italy. DESIGN: We retrospectively reviewed 17162 postmortem records from autopsies routinely performed at San Giovanni Battista General Hospital, Turin, between 1965 and 1994. RESULTS: Applying the so-called Dallas criteria, myocarditis was histologically found in 91 cases (0.53%, 95% CI 0.4 to 0.7). The prevalence increased, reaching a peak between 1985 and 1994 (1.2%, 95% CI 0.9 to 1.6). The disease was found more frequently in patients from 20 to 39 years of age, with no difference between males and females. The present data were compared to those of a previous study, performed in 1985 and 1993 to 1994, in which we had prospectively taken into account 605 autopsies (not comprised in the present retrospective study) with standardized myocardial sampling for histological examination: a 5.1% prevalence was found (nearly five times as high as that retrospectively detected in the same period). CONCLUSIONS: If a standardized method of myocardial samples for microscopic examination is not followed, it is possible that myocarditis is overlooked in an unsuspected number of cases.

Adolescent↗
PubMed1996

Complicated jejunal diverticulosis: report of a case.

The authors report a case of complicated multiple jejunal diverticulosis and review the data from the literature on this pathology. A 74-year-old man was admitted to our unit presenting with symptoms of intestinal obstruction. He had previously experienced three episodes of the same symptomatology with melena. Endoscopy excluded gastroduodenal or colonic bleeding; an X-ray of the small bowel detected multiple large jejunal diverticula. The patient underwent surgery: a jejunal resection was performed just below the Treitz angle extending about 60-70 cm. The postoperative course was uneventful and the patient was discharged on the 8th postoperative day. At present, the patient is doing well and has not since demonstrated any symptoms of either intestinal obstruction or melena.

Aged↗
PubMed1996

Recurrent secondary hyperparathyroidism due to parathyroid carcinoma: usefulness of Ki-67 immunostaining in the diagnosis of a malignant parathyroid tumor.

Parathyroid carcinoma is a very rare disease occurring in less than 2-3% of all the cases showing clinical features of primary hyperparathyroidism. Several histological markers have been used for distinguishing between benign and malignant tumors of the parathyroid glands. However, most of these markers are not easily applicable and clinical prognosis cannot be predicted by histopathological criteria alone. A recent study has drawn attention to the role of the cell cycle associated antigen Ki-67 detected by MIB-1 monoclonal immunocytochemistry in parathyroid tumors: in fact, Ki-67 seems to be a valuable marker of malignancy in such tumors since it permits an easy detection of proliferating and dividing cells. Here we report in detail a case of severe recurrent hyperparathyroidism in a 51-year-old female patient undergoing regular hemodialysis treatment. In the surgical specimens of the parathyroid glands, the tumor proliferative fraction of 56, expressed as the number of Ki-67-positive nuclei per thousand cells, and the mean mitosis count of 0.5, expressed as the percentage of the total amount of Ki-67 positive nuclei, support the diagnosis of parathyroid carcinoma despite the scanty amount of microscopical signs considered characteristic of malignancy, i.e. extensive thick fibrous bands or prominent nucleoli. To our knowledge this paper is the first clinical report that supports the diagnostic role of the cell cycle associated antigen Ki-67 in parathyroid carcinoma in a case of secondary hyperparathyroidism in a patient undergoing hemodialysis.

Female↗
PubMed1996

Pre-Caucasoid and Caucasoid genetic features of the Indian population, revealed by mtDNA polymorphisms.

About 70 individuals from Punjab were examined for some mtDNA polymorphisms, namely, the RFLPs of the six classical enzymes (HpaI, BamHI, HaeII, MspI, AvaII, and Hin-cII) and for the sites AluI(7,025), DdeI(10,394), and AluI(10,397). The AluI(7,025) polymorphic site was also investigated in 96 Indians from Uttar Pradesh and Andhra Pradesh and in 163 Mediterranean Caucasoids. Moreover, 30 Indian DdeI(10,394)Alu(10,397) (++) mtDNAs were typed by the "high-resolution restriction analysis" with 14 endonucleases to estimate their divergence time. The results obtained are the following: (1) The RFLPs analysis has displayed some Caucasoid types as in Indians of Uttar Pradesh; (2) the AluI(7,025) (-) allele, which defines the most frequent Caucasoid-specific lineage (haplogroup H), ranges from 18% to 45% in the Mediterranean Caucasoids, whereas it has shown low frequencies in Punjab (6.0%) and in Uttar Pradesh (1.8%) and was not found in Andhra Pradesh; (3) the DdeI(lO,394)AluI(10,397) (+ +) haplotype, which although previously was considered an East Asian marker (haplogroup M) and was found very frequently in India, is also frequent in Punjab (27%); this frequency is, however, much lower than in Uttar Pradesh (49%) and in Andhra Pradesh (74%), and a gradient decreasing from south to north is therefore observed; (4) the divergence time of the Indian DdeI(10,394)AluI(10,397) (++) mtDNAs has been estimated to be 30,250-60,500 years, a value that is compatible with that of the homologous East Asian lineage. These results strongly support the hypothesis that the DdeI(10,394)AluI(10,397) (++) haplotype predated the Indo-European invasion and probably the split between proto-Indians and proto-Orientals. Its frequency cline well reflects the major influence of Indo-Europeans in the north and in the center of India.

DNA, Mitochondrial↗
PubMed1995

Evolutionary correlation between control region sequence and restriction polymorphisms in the mitochondrial genome of a large Senegalese Mandenka sample.

We present here the first comparative analysis at the population level between Restriction Fragment Length Polymorphism (RFLP) and control region sequence polymorphism in a large and homogeneous Senegalese Mandenka sample. Eleven RFLP haplotypes and 60 different sequences are found in 119 individuals, revealing that a very high level of mtDNA diversity can be maintained in a small population. A sequence neighbor-joining tree and an analysis of molecular variance show that sequences associated with a given restriction haplotype are evolutionarily highly correlated: sequencing generally leads to the subtyping of RFLP haplotypes. Evolutionary relationships among RFLP haplotypes inferred from restriction site differences are in good agreement with those inferred from sequence data. A single difference is observed and is likely due to a single restriction homoplasy having occurred in the control region. Selective neutrality tests on both RFLP and sequence data accept the hypotheses of mtDNA neutrality and population equilibrium. The deep coalescence times (exceeding 50,000 yr) of sequences associated with the two most frequent restriction haplotypes confirm that the Niokolo Mandenka population has not passed through a recent bottleneck and that gene flow is maintained among West African populations despite ethnic differences.

Base Sequence↗
PubMed1995

Pathologic changes in a long-term heterotopic heart transplant survivor.

This report concerns the pathologic findings observed at autopsy in a 10-year-old heterotopic heart transplant under cyclosporine treatment. The allograft showed a diffuse multivessel atherosclerotic disease whereas in the recipient heart coronary arteries and aorta were focally affected by atherosclerosis. The proliferating cell nuclear antigen had significantly increased expression in the allograft vessels in comparison with the recipient.

Coronary Disease↗
PubMed1995

[Adult myocarditis in a general hospital: observations on 605 autopsies].

We studied 605 necropsies carried out in a general hospital (San Giovanni battista in Turin), during the years 1985-86 (405 cases) and 1993-94 (200 cases). A standardized sample of myocardium was systematically taken and submitted to histological examination. Thirty-one cases of myocarditis were found (5.1%). Th disease was more frequently observed in the age group from 30 to 49 years and in people dying of malignancies: females showed higher frequency than males (7.4% vs. 4%), with differences nearly significant from a statistical point of view. None of these cases was recognized by the physicians. The prevalence rate of myocarditis in the present series is higher than in retrospective reviews, where microscopic examination of myocardium was not systematically performed. The discrepancies between clinical results and pathological findings confirm that myocarditis is often unsuspected by the physicians.

Adolescent↗
PubMed1994

Malignant peritoneal mesothelioma mimicking mesenteric inflammatory disease.

A case of malignant peritoneal mesothelioma mimicking mesenteric inflammatory disease (MID) is presented. The patient had mesenteric and omental lesions characterized at biopsy by extensive fibrosis of fat tissue with mild to moderate inflammation. One year later, post-mortem examination revealed a well-differentiated epithelial mesothelioma. Immunohistochemical stains for keratin and vimentin were diffusely positive, whereas EMA showed a membranous staining of scattered cells. CEA, Ber-EP4, B72.3 and Leu-M1 were negative. In addition, actin monoclonals decorated groups of cells pertaining to the tumoural component. Immunostains of sections from retrieved paraffin blocks of the previous biopsy showed that the bulk of the spindle-shaped and histiocytic-like cells present in the fibrous streams was strongly labeled by low-molecular-weight keratin, and coexpressed vimentin and actin. EMA showed a membranous staining of sporadic spindle and round cells. The other immunostains were invariably negative. This immunohistochemical pattern closely corresponded to the immunophenotype of the mesothelial tumour detected at autopsy and was very suggestive of myofibroblastic/submesothelial cell origin. The quantitative evaluation of silver nucleolar organizer regions (Ag-NORs) demonstrated high levels of cell proliferation in both surgical and autopsy tissue samples.

Diagnosis, Differential↗
PubMed1993

The common, Near-Eastern origin of Ashkenazi and Sephardi Jews supported by Y-chromosome similarity.

About 80 Sephardim, 80 Ashkenazim and 100 Czechoslovaks were examined for the Y-specific RFLPs revealed by the probes p12f2 and p49a,f on TaqI DNA digests. The aim of the study was to investigate the origin of the Ashkenazi gene pool through the analysis of markers which, having an exclusively holoandric transmission, are useful to estimate paternal gene flow. The comparison of the two groups of Jews with each other and with Czechoslovaks (which have been taken as a representative source of foreign Y-chromosomes for Ashkenazim) shows a great similarity between Sephardim and Ashkenazim who are very different from Czechoslovaks. On the other hand both groups of Jews appear to be closely related to Lebanese. A preliminary evaluation suggests that the contribution of foreign males to the Ashkenazi gene pool has been very low (1% or less per generation).

Adult↗
PubMed1993

COII/tRNA(Lys) intergenic 9-bp deletion and other mtDNA markers clearly reveal that the Tharus (southern Nepal) have Oriental affinities.

We searched for the East Asian mtDNA 9-bp deletion in the intergenic COII/tRNA(Lys) region in a sample of 107 Tharus (50 from central Terai and 57 from eastern Terai), a population whose anthropological origin has yet to be completely clarified. The deletion, detected by electrophoresis of the PCR-amplified nt 7392-8628 mtDNA fragment after digestion with HaeIII, was found in about 8% of both Tharu groups but was found in none of the 76 Hindus who were examined as a non-Oriental neighboring control population. A complete triplication of the 9-bp unit, the second case so far reported, was also observed in one eastern Tharu. All the mtDNAs with the deletion, and that with the triplication, were further characterized (by PCR amplification of the relevant mtDNA fragments and their digestion with the appropriate enzymes) to locate them in the Ballinger et al. phylogeny of East Asian mtDNA haplotypes. The deletion was found to be associated with four different haplotypes, two of which are reported for the first time. One of the deletions and especially the triplication could be best explained by the assumption of novel length-change events. Ballinger's classification of East Asian mtDNA haplotypes is mainly based on the phenotypes for the DdeI site at nt 10394 and the AluI site at nt 10397. Analysis of the entire Tharu sample revealed that more than 70% of the Tharus have both sites, the association of which has been suggested as an ancient East Asian peculiarity. These results conclusively indicate that the Tharus have a predominantly maternal Oriental ancestry. Moreover, they show at least one and perhaps two further distinct length mutations, and this suggests that the examined region is a hot spot of rearrangements.

Asian People↗
PubMed1992

MtDNA polymorphisms among Tharus of eastern Terai (Nepal).

Tharus--a population of Terai (a region with a severe malarial morbidity in the past)--can be subdivided into three main groups: Western, Central and Southern Tharus. They have usually been considered a Mongoloid population and this has been further substantiated by mtDNA findings on Central Tharus. Studies on the distribution of malaria-related genes have shown an extremely high frequency (0.8) of the alpha-thal gene among Western and Central Tharus. This frequency, however, unexpectedly turned out to be only 0.04 in a sample of Eastern Tharus. This raised doubts on the common notion that Tharus are a single anthropological entity. In the present investigation mtDNA markers were studied in the same sample of Eastern Tharus previously examined for the alpha-thal gene. The findings were: 1. the same three features which confirmed the classification of Central Tharus as Mongoloids (i.e., the common occurrence of HpaI-1/HincII-1 and HaeII-5 morphs, and the lack of BamHI polymorphism) were also present in this sample. Since the only neighbouring population accessible to Tharus, until recently, has been Hindu (Caucasoids), this result strongly supports the notion that Tharus are indeed a single anthropological entity; 2. two statistically significant differences between Eastern and Central Tharus--namely, a much higher HaeII morph 5 frequency among Central Tharus, and the absence in the same group of the mutation at 15.487 bp (very common among Eastern Tharus)--together with the results on alpha-tal gene, suggested that Tharu subgroups underwent an effective reproductive isolation.

Blotting, Southern↗
PubMed1989

Legionella pneumophila in a hospital in Torino, Italy. A retrospective one-year study.

Legionella pneumophila serogroup 1 was isolated from post mortem specimens from 13 out of 58 patients with pneumonia diagnosed at autopsy. The results of a study undertaken in the hospital environment showed that the water plumbing system was colonized with L. pneumophila serogroup 1 which could also be isolated from respiratory devices filled with tap water. Control measures instituted are described.

Aged↗
PubMed1989

Restriction fragment length polymorphism of human mitochondrial DNA in a sample population from Apulia (southern Italy).

Restriction fragment length polymorphism (RFLP) of human mitochondrial DNA was analysed in a sample of 87 subjects from Apulia (South Italy) by the restriction enzymes HpaI, BamHI, HaeII, MspI, AvaII, and HincII using total blood cell DNA probed by human mtDNA from placenta. Five BamHI morphs were observed, two of which are new (BamHI-4 and -5), as well as one new AvaII morph (AvaII-28). The association BamHI-4/AvaII-28 enables us to demonstrate for the first time two polymorphic BamHI sites present together in the same mtDNA molecule. In agreement with historical data the Apulian sample has been shown to be the most heterogeneous Italian population so far tested.

DNA, Mitochondrial↗
PubMed1988

Chronic HDV (hepatitis delta virus) hepatitis. Intrahepatic expression of delta antigen, histologic activity and outcome of liver disease.

The expression of intrahepatic delta antigen (HDAg) was studied in relation to the morphologic features of HDV hepatitis and the outcome of liver disease. The study was performed in 101 patients followed up for an average of 12 years; one or more liver biopsies were available from each patient, giving a total of 167 specimens. The histologic features were assessed using numerical scores. A significant positive relation was observed between the number of HDAg-positive cells and the extent of portal inflammation (Spearman's rank coefficient 0.75). The highest degree of inflammation and intrahepatic expression of HDAg was found before the elimination of the virus, while the outcome of HDV disease was unrelated to the severity of the initial morphologic lesion. These results suggest that the individual immune response may play an important role in the pathogenesis of HDV hepatitis.

Adolescent↗
PubMed1988

[Epidemiology of bronchopulmonary hospital infections].

Hospital acquired infections (HAI) represent one of the major problems, due to their elevated frequency and high number of fatal cases, in the control of infectious diseases. With the perspective to evaluate the incidence of bronchopulmonary infections and to determine their role as cause of death of hospitalized patients, as well as to identify the etiology and the associated risk factors, we have studied 105 autopsy cases of patients decreased in hospital. 37 patients had pneumonias, of which 48.6% were of hospital origin. Hospital pneumonia was responsible for death in 12.3% of the cases. The risk factors significantly associated with HAI were recognized to be the following: hospital recovery for a period longer than 10 days, and surgery. Among the etiologic agents isolated in HAI, there was a distinct prevalence in Gram-negative bacteria (55.5% of the samples), such as Pseudomonas aeruginosa, Klebsiella pneumoniae, Legionella pneumophila.

Bacterial Infections↗