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Biomedical subjects

A Gandini

Publications and source records attributed to A Gandini.

At least 19 recordsLinked to original sources

Genetic analysis carried out on blood-spots of phenylalanine hydroxylase-deficient newborns detected by northeastern Italian neonatal screening.

The aim of this work was to perform genetic analysis on 18 different blood-spot samples collected from neonates detected as hyperphenylalaninemic by Northeastern Italian screening program. DNA was extracted from blood-spots. Exons/introns of PAH gene were amplified by polymerase chain reaction (PCR), and PCR products were purified and sequenced with both forward and reverse primers. The most frequent mutations were IVS12nt1g>a (16.7%) and R408W, P281L and L48S (all together 11.1%). As expected, compound heterozygosity was the usual finding; homozygosity was found only in two patients with R158Q and IVS2nt5g>c mutations. The V230I mutation was reported for the first time in Italy. We found six previously described polymorphisms (V245V, IVS4nt47c>t, IVS2nt19t>c, IVS3nt-22c>t, IVS5nt-54a>g, and E280>Q280). To our knowledge, four genotypes were not previously described: R158Q/V230I present in one patient with classical PKU; and L48S/R408Q, A403V/IVS2nt-13t>g, and G272X/V230I present in patients showing HPA phenotype. Most of the mutations were located in the exons 12 and 7 and in exon/intron 2 (83.3% detection of total mutations in PKU or HPA patients of Northeastern Italy). From a practical viewpoint, the genetic analysis of blood-spots collected on Guthrie cards for neonatal screening for PKU could be a simple method to establish the genotype of neonates. Consequently, the genotype/phenotype correlation could lead to a more accurate diagnosis and prognosis for families.

Amino Acid Substitution↗

Modification of cellulose fibres with organosilanes: Under what conditions does coupling occur?

Different cellulose substrates and organosolv lignin were treated heterogeneously with organic solutions of trialkoxysilanes bearing variable function on the forth substituent. It was shown unambiguously for the first time that Si-OR does not react with the hydroxy groups of cellulose even at high temperature, whereas it condenses with the phenolic OH of lignin. The addition of moisture to these systems induces the partial hydrolysis of the siloxane moieties and the ensuing silanol groups can then react with the cellulose OH, but only at high temperature. Using the latter systems and a siloxane bearing a polymerizable function, it was possible to attach poly(methylmethacrylate) chains to the surface of cellulose fibres through a two-step procedure.

Journal Article↗

Unrelated allogeneic bone marrow donation: short- and long-term follow-up of 103 consecutive volunteer donors.

Between 1992 and 1999, 105 unrelated allogeneic bone marrow collections from 103 volunteer donors (65 males and 38 females; median age 33 years) were carried out in three northern Italian centers (Verona, Bolzano and Padova) affiliated with the Italian Bone Marrow Donor Registry (IBMDR). The average volume of BM collected was equivalent in both genders (1143.1 ml for males and 1054.2 ml for females; P = 0.1), although the average volume collected for unit of body weight and the average post-collection blood volume depletion was higher in females (respectively 17.1 ml/kg and 14.2% in females, 14.8 ml/kg and 12% in males; P= 0.01 and 0.03). There was no statistically significant difference between males and females in the total number of nucleated cells collected. We did not record any acute life-threatening event during or after the bone marrow collections. The most frequent complaint was pain at the collection site (77%) followed by the onset of fatigue (38%) and nausea and vomiting (25%); all of these were short-term problems. Hospitalization was short (average 20.2 h) and donors started their normal daily activities after an average of 5.4 days. We also monitored Hb, serum ferritin levels, WBC and platelet counts in the post-collection period (average follow-up 40.1 months). All donors signed a written informed consent for a further bone marrow collection, if needed. Our findings confirm the short- and long-term safety of allogeneic bone marrow collection in volunteer donors.

Adolescent↗

Cork suberin as a new source of chemicals. 1. Isolation and chemical characterization of its composition.

Extractive-free cork from Quercus suber L. was submitted to a solvolysis treatment with methanolic NaOH which yielded 37% (o.d. cork) of suberin. This mixture of compounds was thoroughly characterized by FTIR, 1H- and 13C-NMR, gas chromatography coupled with mass spectrometric (GC-MS) analysis, vapour pressure osmometry (VPO), mass spectrography (MS) and gel permeation chromatography (GPC). After derivatization, the main components of the volatile fraction, representing less than half of the total, were found to be omega-hydroxymonocarboxylates, alpha, omega-dicarboxylates, simple alkanoates and 1-alkanols, all with chain lengths ranging from C16 to C24. A second fraction, with an average molecular weight about three times higher, was detected by VPO, MS and GPC. The presence of this important fraction in cork suberin had not been recognized in earlier studies. Both fractions constitute interesting precursors for the elaboration of new materials.

Gas Chromatography-Mass Spectrometry↗

Surface Properties of Suberin

The surface energy of suberin was determined by four different methods, namely, (i) contact angle measurements, (ii) Wilhelmy plate measurements, (iii) maximum bubble pressure, and (iv) inverse gas chromatography (IGC). The first three methods gave a gammasub value in the range 40-50 mN m-1 at room temperature. The major component of this value reflects the dispersive contribution. The IGC measurements showed a higher dispersive term, which is common with this method of characterization. The surface acid (A)/base (B) properties were also evaluated, and the results indicated that suberin has an acidic character.

Journal Article↗

[A rare cause of intestinal obstruction].

Three-hundred-thirteen cases of small and large bowel obstructions surgically managed, from May 1974 to September 1995, are reviewed. Particularly, 10 uncommon cases are described: 3 hernias in anomalous recesses, 1 small bowel spontaneous hematoma, 2 Ogilvie syndromes, 1 obstruction due to cholecystitis, 1 left diaphragmatic hernia, 1 encapsulating peritonitis, 1 incarcerated Spigelian hernia. Their aetiopathogenetic and clinical patterns are examined. The Authors conclude, in agreement with Literature, that small bowel obstructions need urgent operation because of high risk of ischemic lesions. In large bowel obstructions operation is suggested after more careful diagnostic researches and adequate patient preparation. In some uncommon obstructions the purpose is to restore normal anatomical conditions.

Adult↗

Effects induced by olive oil-rich diet on erythrocytes membrane lipids and sodium-potassium transports in postmenopausal hypertensive women.

Since we have observed that monounsaturated fatty acids (MUFA) enriched diet modifies red cell membrane lipids and cation transport systems in normotensive subjects, we similarly evaluated a group of hypertensive patients undergoing an analogous dietary modification. In a group of 18 moderately hypertensive women, the diet was supplemented for two months with olive oil (about 45 g/day), which replaced an equal amount of seasoning fats. Before and after this period, red cell fatty acid composition was evaluated by gas-chromatography in order to verify diet compliance: a significant increase in oleic acid was observed, while the content of saturated and polyunsaturated fatty acids remained unchanged. After olive oil, maximal rates of Na-K pump (5580 +/- 329 vs 6995 +/- 390, p less than 0.001) and Na-K cotransport (Na-COT 544 +/- 52 vs 877 +/- 46, p less than 0.001: K-COT 790 +/- 76 vs 1176 +/- 66, p less than 0.001), cell Na content (9.58 +/- 0.4 vs 10.61 +/- 0.6, p less than 0.03) and passive permeability for Na (936 +/- 74 vs 1836 +/- 102, p less than 0.001) rose significantly. Although the reduction in maximal rate of the Li-Na CT after olive oil was not significant, it was the only cation transport parameter being correlated with the variations of membrane lipids, namely negatively with UFA (r = -0.528, p less than 0.05) and positively with SFA (r = 0.482, p less than 0.005). The change in maximal rate of Li-Na CT was also correlated with the variation of systolic and diastolic BP (r = 0.50, p less than 0.03).(ABSTRACT TRUNCATED AT 250 WORDS)

Blood Pressure↗

Transmembrane cation fluxes and fatty acid composition of erythrocytes in psoriatic patients.

Cation transport systems and lipid composition of erythrocyte membrane were studied in 27 psoriatic patients and in 34 healthy individuals. Whereas intracellular Na and K content, Na- and K-passive permeability and Li-Na countertransport of psoriatics did not show any statistical difference from normals, the Na/K ATPase pump activity was significantly higher and Na-K cotransport was significantly lower. Membrane lipid composition of psoriatics was different from normals: an increase in arachidonic acid and in unsaturated (poly- and total unsaturated) fatty acid content was found. A positive correlation was demonstrated between unsaturated/saturated fatty acid ratio and Na/K ATPase pump activity. These results demonstrate an alteration of erythrocyte Na/K ATPase pump and Na-K cotransport in psoriasis. These alterations of cation transport are associated with a perturbation of membrane fatty acid composition which appears a widespread phenomenon in cells of psoriatic patients.

Adult↗