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Biomedical subjects

G Massi

Publications and source records attributed to G Massi.

At least 73 records · Page 4Linked to original sources
PubMed1988

Alpha 1 antitrypsin deficiency in two population groups in north Italy.

We determined the PiM, PiS and PiZ gene frequencies by isoelectric focusing in 9128 newborns from two major ethnic groups, an Italian and a German one, in the Northern part of Italy. In the Italian group the PiS allele frequency is 0.032, the PiZ = 0.015, in the German one 0.015 and 0.019 respectively. Nine ZZ, 2 SS, 10 SZ, 314 MZ and 307 MS were detected. In our two population groups the PiS reflects better than other alleles a close genetic relationship between our German population and studied groups in Austria and Germany.

Alleles↗
PubMed1987

Serum protein distribution in hydatidiform mole. An immunohistochemical study.

In normal placentas during the first trimester of pregnancy, the syncytiotrophoblast appeared to be immunoreactive to alpha-antitrypsin (alpha 1-AT), alpha 1-antichymotrypsin, albumin, IgG, and transferrin. The underlying cytotrophoblast was negative for these same serum proteins. In the hydatidiform mole, these findings were profoundly different. The syncytiotrophoblast lost its immunoreactivity to albumin, IgG, transferrin, and, less frequently, to alpha 1-AT. Furthermore, the underlying cytotrophoblast became immunoreactive to albumin, alpha 1-AT, IgG, transferrin, ferritin, orosomucoid, and, sometimes, to alpha 1-antichymotrypsin. This altered immunohistochemical pattern suggested a notable change in the pinocytotic activity of the trophoblast in the placenta during molar degeneration. The absence of pinocytosis in the syncytiotrophoblast for several proteins can be explained by the partial loss of specific membrane receptors. The contemporaneous appearance of numerous serum proteins in the cytotrophoblast could indicate an activation, not only proliferative, but also functional, in the germinative cytotrophoblast. Diagnostically, this histochemical finding in the hydatidiform mole, which was quite different from that seen in normal placentas during the first trimester of pregnancy, could provide additional evidence concerning trophoblastic abnormalities in the chorionic villi during molar degeneration.

Blood Proteins↗
PubMed1986

Protein absorption by tubular mesonephric and metanephric structures in the human embryo. An immunohistochemical study.

The presence of different serum proteins in the cells of the proximal tubule of both meso- and metanephric nephrons in human embryos (7th-12th week of intrauterine life) was investigated using immunohistochemistry. Endogenous lysozyme, alpha-1-antitrypsin and ferritin were detected in mesonephric proximal tubules and, starting from the 8th week, also in metanephric proximal tubules. Our observations provide information concerning the appearance and distribution of tubular protein reabsorption during the early stages of development.

Embryo, Mammalian↗
PubMed1986

Serum proteins in human chorionic villi in the first trimester of pregnancy. An immunohistochemical study on normal tissue and tissue obtained from spontaneous abortions.

The presence of various proteins (mostly serum proteins) has been investigated in the chorionic villi of human placentas in the first term of gestation. The peroxidase-antiperoxidase method was employed. In normal chorionic tissue, i.e. obtained from therapeutic abortions, a positive staining for alpha 1-antitrypsin (A1AT), alpha 1-antichymotrypsin (A1AC), albumin and IgG was observed in syncytiotrophoblast but not in cytotrophoblast. Staining for other proteins, including fibrinogen, antithrombin III (AT III), lysozyme, ferritin, orosomucoid, carcinoembryonic antigen (CEA), alpha-fetoprotein (AFP), IgA, IgM and alpha 2-macroglobulin (A2M), was always negative in the trophoblast. Similar results were obtained in only a few cases of tissue obtained from spontaneous abortions which occurred during the first term of pregnancy. In the majority of spontaneous abortions a different immunohistochemical pattern was observed. The syncytiotrophoblast was immunonegative in the majority of cases, especially for albumin, whereas the cytotrophoblast showed a positive (although variable) reaction to A1AT, A1AC, albumin, IgG and orosomucoid antibodies. There is no evidence to indicate whether these differences are the cause or the secondary result of the spontaneous abortions, but we can hypothesize that they reflect an alteration of pinocytic functions of the trophoblast during the spontaneous abortions.

Abortion, Induced↗
PubMed1985

Quantitative study of action tremor in various patient categories.

An electronic method is proposed for quantifying the action tremor revealed by a threefold test of skill, which distinguishes young adult controls from elderly normals and patients with tremor. Parkinsonian patients can be differentiated from patients with essential tremor. The value of drugs against tremor is discussed.

Adult↗
PubMed1985

Storage of alpha-1-antitrypsin in intrahepatic bile duct cells in alpha-1-antitrypsin deficiency (Pi Z phenotype).

Storage of alpha-1-antitrypsin (AAT) has been found in a small number of bile duct cells in liver tissue specimens from patients with Pi MZ, Pi SZ and Pi ZZ phenotypes. The storage appeared in the form of intracellular AAT immunoreactive inclusions. On EM investigation, AAT-like material was detected within cisternae of the RER and SER. Such AAT inclusions were found in proliferating bile ductules in conditions such as cirrhosis, focal nodular hyperplasia and extrahepatic obstruction. They were also observed in normal biliary structures at the level of the canals of Hering, bile ductules and interlobular ducts in 13 out of 47 cases. These findings are interpreted as indicating that the intrahepatic bile duct cells are a further source of AAT, and that in case of defective export of AAT from the cell, as is the case for the Z protein, the protein accumulates not only in hepatocytes but in biliary cells as well.

Bile Ducts, Intrahepatic↗
PubMed1984

On six cases of radiation meningiomas from the same community.

The article deals with 6 patients operated on for meningioma many years after they had undergone X-ray therapy because of an epidemic of tinea capitis in their community. One of the patients developed another meningioma 13 years after the operation. A causal connexion between radiation and tumors is supported by the patient linkage and by the similarity of tumor type, site and latency (36.14 +/- 7.51 years).

Adult↗
PubMed1984

Fibrolamellar carcinoma of the liver: the malignant counterpart of focal nodular hyperplasia with oncocytic change.

A case of fibrolamellar carcinoma (FLC) in a noncirrhotic liver of a 20-year-old man is described. Gross features and the presence, among the tumor cells, of bile ducts, of thick-walled blood vessels and nerves, and, ultrastructurally, of myofibroblast-like cells are the most significant findings, suggesting that FLC is the malignant counterpart of focal nodular hyperplasia with oncocytic change. Histochemical and immunohistochemical methods demonstrate the presence inside the oncocytic tumor cells of copper, copper-binding protein, and alpha 1 antitrypsin. The pathogenesis and the significance of these findings then are discussed and related to the restricted capacity of oncocytic cells to fulfill normal cellular function.

Adult↗
PubMed1984

Silver-stained phenotyping of alpha 1-antitrypsin in dried blood and serum specimens.

In this technique for determining the electrophoretic phenotype of alpha 1-antitrypsin in dried blood or serum specimens, the adsorbed material is eluted with a concentrated solution of dithiothreitol, focused on polyacrylamide thin-layer gel, and made visible with silver stain. With this staining technique all normal and pathological alpha 1-antitrypsin phenotypes can be detected. The procedure is relatively simple, inexpensive, and suitable for use in large-scale screening for alpha 1-antitrypsin deficiency in selected populations.

Electrophoresis, Polyacrylamide Gel↗
PubMed1984

Alpha-1-antitrypsin (AAT) and its stimulation in the liver of PiMZ phenotype individuals. A "recruitment-secretory block" ("R-SB") phenomenon.

PiMZ individuals in conditions of clinical stimulation show a peculiar immunohistochemical staining pattern for alpha-1-antitrypsin (AAT) in the liver: 1) the positivity involves large zones of parenchyma (up to 100% of hepatocytes); 2) in zone 2 and zone 3 hepatocytes the positivity appears in the form of crescents or rectilinear arrays along the sinusoids. This new pattern is designated type II, in contrast to type I which occurs in periportal hepatocytes in the form of inclusions spread over the whole cytoplasm. This peculiar staining pattern is associated with serum elevation of AAT and is considered to be an expression of liver reactivity. Type II positivity marks the hepatocytes which are newly recruited for the synthesis of AAT; owing to its defective export, the Z AAT is retained within the cell and detectable by immunohistochemistry. Thus this staining pattern is an expression of both recruitment for synthesis and block of secretion ("Recruitment-Secretory Block" "R-SB" phenomenon). In PiMZ individuals, the secretory block affects selectively and exclusively the Z fraction of AAT. At the EM level the vast majority of the retained protein is found in the RER, which represents the major and the earliest site of storage. Viewed in the framework of present knowledge of glycoprotein biosynthesis, the results of this study shed further light on the nature and cellular site of the Z AAT defect.

Biopsy↗
PubMed1983

Alpha-1-antitrypsin MZ phenotype and cryptogenic chronic liver disease in adults.

Intrahepatocytic inclusions of alpha-1-antitrypsin as markers of Z allele were searched by histochemical and immunohistochemical (peroxidase-antiperoxidase) methods in needle biopsy specimens from 80 consecutive cases of cryptogenic cirrhosis and chronic active hepatitis - HBsAg-negative - in adults. All positive cases and 26% of the negative ones were phenotyped in order to determine the frequency of heterozygous (MZ) deficiency. At variance with previous studies, no prevalence of heterozygous (MZ) deficiency could be demonstrated. This result indicates that further investigations are mandatory to establish if heterozygous (MZ) subjects are predisposed to chronic liver disease.

Alleles↗
PubMed1983

Human antithrombin III heterogeneity: a study by isoelectrofocusing and crossed immunoelectrofocusing.

Isoelectrofocusing was carried out in the LKB Multiphor apparatus with pH 4-6.5 carrier ampholines using polyacrylamide gel slabs. Specimens of purified antithrombin III (AT-III), normal plasma and serum were isoelectrofocused. Microheterogeneity was shown by three preparations of purified AT; the protein was separated in at least six bands, three large bands were located in the pH range 4.9-5.2, one intermediate band at pH 4.85, other thinner bands were located in the pH range 4.55-4.80. The microheterogeneity of AT-III was confirmed in purified preparations as well as in plasma and in serum by crossed immunoelectrofocusing. The pattern of purified preparations, normal plasma and serum were very similar; only minor, quantitative differences were noticed. Plasma from a patient with congenital AT-III deficiency showed an abnormal pattern.

Antithrombin III↗
PubMed1982

Alpha-1-antitrypsin (alpha 1AT) phenotypes and PiM subtypes in Italy. Evidence of considerable geographic variability.

Genetic typing of alpha 1AT was performed in 3751 individuals from Italian towns. The following was observed: (a) The pathologic phenotypes (SZ, MZ, ZZ) appeared to decrease progressively from northern to southern Italy; (b) the distribution of the PiM suballeles showed considerable geographic variability, but the suballele M2 was more frequently encountered in southern Italy; and (c) in the large cities of southern Italy, the frequency of the deficiency more closely resembled that found in northern Italy than that of the remaining populations of the south.

Electrophoresis, Polyacrylamide Gel↗