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Biomedical subjects

M Giovannini

Publications and source records attributed to M Giovannini.

At least 181 records · Page 10Linked to original sources
PubMed1995

An update on echoendoscopy with a curved array transducer in the evaluation of pancreatobiliary disease.

Little information is available about echoendoscopy with an electronic curved array transducer for evaluation of pancreatobiliary disease. Only one study has been published, and two abstracts were presented at the last World Gastroenterology Congress in Los Angeles, California in 1994. In this article, the results of these studies are reviewed and compared with previously reported results using radial echoendoscopy systems.

Cholestasis↗
PubMed1995

Nutrition in children affected by inherited metabolic diseases.

Diet-therapy represents an elective approach to the treatment of several inborn errors of metabolism. According to the type of disease, dietary intervention can be addressed to three different goals: a) dietary restriction (global or partial) of one or more nutritional components become "toxic" because of the occurring enzymatic defect; b) supplementation with a given defective nutritional component; c) elimination through the use of diet and drugs of the accumulated "toxic" compounds. These interventions are aimed at overtaking the metabolic block and to avoid the accumulation of intermediate "toxic" substrates. The efficacy of the therapy should then be evaluated by means of a thorough biochemical and clinical follow-up (including anthropometric and psychomotor development parameters). In particular, nutritional indexes should be constantly monitored in order to support the dietary therapy, discover and correct any possible nutritional deficiency secondary to the "by exclusion dietary regimen". To elucidate these general principles, we discuss in detail some hereditary diseases of amino acid (phenylketonuria) and carbohydrate (glycogen storage disease and galactosemia) metabolism that, being responsive to the nutritional intervention, can be considered reliable examples of all the problems linked to diagnosis, acute and long-term therapy and follow-up of these diseases.

Amino Acids↗
PubMed1994

Yeast artificial chromosome cloning of 3.2 megabases within chromosomal band 11q24 closely linking c-ets 1 and Fli-1 and encompassing the Ewing sarcoma breakpoint.

Human chromosome 11 harbors many genes of medical significance and cancer-related rearrangements. The availability of cloned DNA in cosmids and in yeast artificial chromosomes (YACs), combined with fluorescence in situ hybridization analysis, has led to the cloning of genes at sites of chromosomal breakpoints in acute leukemias in 11q23 and in Ewing tumors in 11q24. YAC cloning has facilitated the construction of contigs covering large portions of chromosomes for the detailed analysis of disease gene regions. Here we have cloned in YACs approximately 3.2 Mb of DNA within band 11q24, spanning the Ewing sarcoma breakpoint. Landmark cosmids 23.2 (D11S374) and 5.8 (D11S372), shown by FISH to flank the breakpoint within a 1.5- to 1.8-Mb segment, were used to seed two YAC "walks" both centromeric and telomeric to the breakpoint by YAC-end cloning and screening of two total genomic YAC libraries. The centromeric YAC contig, which consists of 23 overlapping YACs and orders 19 sequence-tagged sites (STSs), covers a minimum of 2.2 Mb and spans the Ewing sarcoma breakpoint. c-ets 1 and Fli-1, two members of the ets family, have been linked within 400 kb of intervening DNA within this contig, which also comprises a polymorphic microsatellite, D11S912 (CA)n, which we have localized within the Fli-1 gene. The telomeric YAC contig, which consists of 11 overlapping YACs, comprises 5 STSs and covers a minimum of 1 Mb distal to the breakpoint. Taken together, the two contigs, which consist of a total of 34 YACs and comprise 24 STSs, are separated by a maximum gap of 200-400 kb and cover as a whole 3.2 Mb of DNA. This represents about 70% of human chromosomal band 11q24, which extends over approximately 4.4 Mb of DNA.

Base Sequence↗
PubMed1994

Ultrasound-guided percutaneous alcohol injection of small liver metastases. Results in 40 patients.

BACKGROUND: Ultrasound-guided percutaneous alcohol injection (PAI) is used in the treatment of hepatocellular carcinoma. The aim of this study is to evaluate the results of treatment with PAI of liver metastases (LM) that measure fewer than 5 cm in diameter, where three or less lesions are present. METHODS: Between December 1987 and November 1992, 40 patients were treated for one or more liver tumors (n < or = 3). These 40 patients had a total of 55 lesions. There were 55 LM: 32 cases of colorectal origin, 9 cases of mammary origin, 5 cases with a carcinoid tumor, 4 with an undifferentiated tumor, 3 with cancer of the uterus, 1 with an epidermoid cancer of the esophagus, and 1 with a bronchogenic carcinoma. The tumor has been considered spherical and the total volume of alcohol used depends on the diameter of the tumor. The volume was calculated using the formula V = 4/3 pi [r + 0.5]3; this volume was injected during several sessions, not more than 10 ml per injection. The injections were performed once a week until the calculated volume was reached. RESULTS: Of the 55 tumors treated, there was a complete necrosis in 31 cases (56.3%). The median survival of the 40 patients was 21 months, with a 3-year actuarial survival of 39%. Among patients with LM of colorectal origin, the median survival was increased when the total necrosis was obtained (38 months versus 21 months, P < 0.04). CONCLUSION: PAI seems to be a therapeutic alterative when surgery is contraindicated or when LM are resistant to chemotherapy.

Aged↗
PubMed1994

Physical mapping of the NF2/meningioma region on human chromosome 22q12.

Loss of genetic information from chromosome 22 has been implicated in the development of neurofibromatosis type 2, meningioma, and several other neoplasia. Molecular studies indicate that genes within chromosomal band 22q12 may be involved in tumorigenesis. We have mapped 29 loci into 16 groups in this region, using pulsed-field gel electrophoresis, fluorescence in situ suppression hybridization, and somatic cell hybrid mapping. The region spans more than 5 Mb of genomic DNA and contains the genes for neurofibromatosis type 2 and meningioma. The order of loci presented here provides the framework for the fine mapping of this region using cosmids and yeast artificial chromosomes, and it facilitates the speedy cloning of novel genes from 22q12.

Cell Line, Transformed↗
PubMed1994

PKU-related dysgammaglobulinaemia: the effect of diet therapy on IgE and allergic sensitization.

The effect of diet on the development of immunoallergic signs and symptoms in children with phenylketonuria (PKU) was evaluated. Immunological indices of 58 children with PKU treated with diets were compared to the immunological indices of 58 healthy (non-PKU) children. In the PKU group, 39 children had been placed on diet therapy within the first month of life; 19 children had been placed on diet therapy after 6 months of age. Total circulating lymphocytes; CD3+, CD4+, CD8+ circulating lymphocytes; and serum IgA, IgM, IgG and total IgE levels were measured for each child. Skin prick tests were performed for common inhalant and food allergens. Every 3 months over the 2-year period of this study, the signs and symptoms of eczema, allergic rhinitis and asthma were recorded. The PKU group had lower IgG levels (p = 0.004) and higher total IgE levels (p = 0.0001) than the control group. Significantly lower IgE levels were found in children started on diet therapy within the first month of life compared with those started on diet therapy after 6 months of age (p = 0.0001). Allergic sensitization was significantly more frequent in the PKU group (24/58 vs 13/58, z = 2.00, p < 0.05), but no significant difference in the incidence of eczema and allergic rhinitis was found. Asthma was less frequent in the PKU group than in the control group (5/58 vs 14/58, z = 2.09, p < 0.05). Thus, diet appeared to prevent the development of immunoallergic signs and symptoms.

Adolescent↗
PubMed1994

Relationships between the fatty acid status and insulinemic indexes in obese children.

The relationship between the fatty acid (FA) status and indices of insulin secretion in young obese subjects at risk of developing insulin resistance and its complications was investigated. In 12 subjects (8-14 years) at first diagnosis of obesity the FA composition of total plasma and circulating and erythrocyte phospholipids was related to basal and peak insulinemia and the insulinemic area resulting from a standard oral glucose tolerance test. Negative correlations were shown between both delta-6-desaturation products and 20:5 n-3 levels and insulinemic values. On the contrary, circulating total saturated and monounsaturated FA and erythrocyte phospholipid products of delta-5- and delta-4-desaturation positively correlate with insulinemic indices. The observed relationships could be markers of developing insulin resistance and suggest the possibility of a dietary intervention.

Adolescent↗
PubMed1994

Hepatitis B vaccination in infants of mothers infected with human immunodeficiency virus.

Eighteen infants of mothers with human immunodeficiency virus (HIV) infection were given hepatitis B vaccine at birth. Seroconversion occurred in all 13 infants whose HIV antibody disappeared, versus one of five HIV-infected children. The four of five HIV-infected infants who did not mount an antibody response progressed rapidly to full-blown acquired immunodeficiency syndrome. Thus HIV-infected infants respond poorly to hepatitis B vaccine.

Female↗
PubMed1994

Endoscopic ultrasonography with a linear-type echoendoscope in the evaluation of 94 patients with pancreatobiliary disease.

The purpose of this study was to evaluate a new endoscopic ultrasonography (EUS) device using a curved-array transducer with a 120-degree sagittal scan angle in the diagnosis of pancreatobiliary disease. From October 1991 to June 1993, 94 patients underwent EUS to assess radiologically detected anomalies (62 cases), tumors of the papilla of Vater (seven cases) and laboratory findings demonstrating cholestasis of unexplained origin (25 cases). In 41 cases, surgery was performed after EUS, and in 40 cases ERCP was also performed. The EUS diagnosis of chronic calcifying pancreatitis was confirmed by ERCP in 14 of 18 patients. In 30 cases, EUS detected a pancreatic tumor. In 26 of these patients, surgery was performed, confirming EUS findings regarding tumor size, portal, mesenteric, and splenic invasion, and lymph-node involvement in 20 of 25 pancreatic carcinomas (80%). In five of seven patients in whom EUS detected ampullary carcinoma, cephalic duodenopancreatectomy was performed, and the histology of the surgical specimen confirmed the diagnosis in all five. In 25 patients presenting with cholestasis of unexplained origin, EUS provided the diagnosis in 22 cases (88%). EUS using a curved-array transducer appears to be an effective diagnostic method for pancreatobiliary lesions. These results should be further evaluated in a larger series of patients.

Adult↗
PubMed1994

Antigen-reduced infant formulas versus human milk: growth and metabolic parameters in the first 6 months of life.

OBJECTIVE: To compare growth and metabolic parameters of infants fed special formulas for atopy prevention to breast-fed infants. METHODS: Eighty-two infants with family history of IgE-mediated diseases completed a 6-month nutritional follow-up within a clinical trial to assess the effectiveness of the dietary intervention in preventing atopy. Infants were subdivided according to the type of milk feeding from the end of the first month of life up to sixth month: human milk (HM) group (29 infants); soy formula (SF) group (15 infants); whey-based low-degree hydrolysate (WHy) group (15 infants); casein-based high-degree hydrolysate (CHy) group (13 infants); soy plus collagen-based high-degree hydrolysate group (10 infants). Anthropometric indices were determined at 0, 3 and 6 months of life and a fasting blood sample for hematochemical parameters was obtained at 5 months of life before beginning the introduction of solid foods. RESULTS: Lower values of body mass index and higher blood urea nitrogen were displayed by the CHy group at 3 months. Plasma aminoacidograms showed higher essential amino acids (AA)/total AA in SF, WHy and CHy groups but lower branched chain AA/essential AA in all formula-fed infants in comparison with the HM group. CONCLUSIONS: Special formulas (in particular high-degree protein hydrolysates) should be carefully evaluated when used for prolonged periods of time in healthy infants at familial risk of atopy.

Amino Acids↗
PubMed1994

Effects of diet on the lipid and fatty acid status of full-term infants at 4 months.

OBJECTIVE: To compare the effects of the exogenous supply of long-chain polyunsaturated fatty acids (LCP) and cholesterol on the lipid and fatty acid status in full-term, 4-month old infants. METHODS: Twenty-three infants received a standard infant formula while twenty-one were given a formula enriched with LCP and cholesterol in a prospective, randomized study. The composition of the two formulas differed only in fat quality. A group of fifteen breastfed infants fed was used as reference. No one was complemented with solid foods before blood sampling at 4 months of life. RESULTS: Differences in total-cholesterol and low-density lipoprotein-cholesterol (LDL-C) levels between feeding groups were mainly gender-related. Dietary cholesterol tended to increase LDL-C plasma levels. The breastfed and the enriched formula-fed groups had higher levels of circulating LCP than the group that received the standard formula. In the erythrocytes of infants fed the standard formula, C22:6 n-3 levels were less than 50% those of the breastfed and the enriched formula-fed ones. Higher C20:4 n-6 levels were found in the erythrocytes of the enriched formula-fed group. CONCLUSIONS: Formula-fed, full-term infants maintain a lipid and fatty acid status close to that of breastfed infants when supplied with dietary LCP and cholesterol.

Cholesterol↗
PubMed1994

Fat needs of term infants and fat content of milk formulae.

Term infants have precise dietary fat requirements for their metabolic, energy and structural needs. The fat content of commercial milk formulae differs from maternal milk in that it contains no long-chain polyunsaturated derivatives or cholesterol. Artificially fed children thus have less of these molecules available for their biological needs, and hence lower levels of long-chain polyunsaturated derivatives in circulating and membrane lipids than breast-fed children. The functional effects of this difference have not been investigated thoroughly in term infants. Dietary lack of essential fatty acids and their derivatives is evident also in weaned children during the second half of their first year of life. Qualitative changes in the fat content of commercial milk formulae could help to correct some widely encountered dietary imbalances, using the pattern of fats provided in breast milk as the ideal.

Animals↗
PubMed1994

Cloning of the entire FLI1 gene, disrupted by the Ewing's sarcoma translocation breakpoint on 11q24, in a yeast artificial chromosome.

FLI1 (Friend leukemia virus integration 1), a member of the Ets gene family, is disrupted on 11q24 by the Ewing's Sarcoma (ES) and Peripheral Neuroepithelioma (PNE) t(11;22)(q24;q12) translocation. ES and PNE are Primitive Neuroectodermal Tumors (PNETs) and the consistent translocation t(11;22)(q24;q12) can be used for differential diagnosis. In PNETs the 3' part of human FLI1 is translocated from 11q24 to 22q12, where it is juxtaposed to the 5' end of the Ewing's Sarcoma gene (EWS). A fusion transcript, resulting in a chimeric protein, is generated. Here, we present the isolation and detailed characterization of a 250-kb colinear YAC, B45C11, which encompasses the ES and PNE breakpoint on 11q24, as shown by FISSH on ES and PNE chromosomes and interphase nuclei. This YAC represents a new reagent for potential use in rapid differential diagnosis by FISSH on tumor biopsies and on paraffin embedded samples, particularly when DNA and/or RNA are not available for molecular analysis. YAC B45C11, which spans 250 kb of contiguous DNA around the ES and PNE breakpoint, contains the entire FLI1 gene. Three potential HpaII-tiny-fragment (HTF) islands are revealed within the YAC. One of these islands appears to be associated with the 5' end of FLI1, which extends over approximately 120 kb of DNA on 11q24. In addition, we demonstrate that YAC B45C11 contains other transcribed sequences in addition to FLI1, by "cross-species" Northern blot hybridizations, which suggests the presence of additional genes in the immediate vicinity of the ES breakpoint on 11q24.

Base Sequence↗