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Biomedical subjects

G Fortunato

Publications and source records attributed to G Fortunato.

At least 19 recordsLinked to original sources
PubMed2000

Identification of a novel mutation in the ryanodine receptor gene (RYR1) in a malignant hyperthermia Italian family.

Malignant hyperthermia (MH) is an inherited autosomal dominant pharmacogenetic disorder and is one of the main causes of death subsequent to anaesthesia. Around 50% of affected families are linked to the ryanodine receptor (RYR1) gene. To date, 19 mutations have been identified in the coding region of this gene and appear to be associated with the MH-susceptible phenotype. Here we report the identification by two independent methods of a novel mutation associated with the MH-susceptible phenotype in the RYR1 gene: the 6488G-->C transversion, resulting in the replacement of the Arg2163 with a proline residue.

Amino Acid Substitution↗
PubMed1999

Primary cardiac tumors: early and late results of surgical treatment in 91 patients.

BACKGROUND: Between March 1980 and September 1997, 91 patients underwent evaluation and treatment for primary cardiac neoplasms. METHODS: Tumors were grouped into three categories: atrial myxomas, benign nonmyxomas, and malignant tumors. Survivors were contacted; no one was lost to follow-up. The mean follow-up for this series is 7 +/- 5 years. RESULTS: Eighty-three patients were diagnosed with atrial myxomas (Male/Female: 29/54), average age 55 +/- 13 years. The hospital mortality was 3.6% (3/83), the late mortality was 6.5% (5/80). No recurrent myxomas have been identified clinically or by echocardiography in any patient. Three patients were diagnosed with benign nonmyxoma tumors. (Male/Female: 2/1), average age 64 +/- 8 years. There were no perioperative deaths and 1 patient died 4 years postoperatively from fibroma, with no linked causes. No recurrent tumors have been identified. Five patients were diagnosed with malignant tumors. (M/F: 1/4), average age 53 +/- 16 years. The hospital mortality was 20% (1/5); in 3 patients a redo-operation was necessary after 8, 11, and 12 months because of tumor recurrence. All patients died within 3 years of the first operation (mean 13 +/- 14 months). CONCLUSIONS: Surgical resection, when possible, is the treatment of choice for all primary cardiac tumors. Patients with benign tumors are probably cured by resection and in our experience there was no known tumor recurrence. Effective palliation is possible with resection of malignant tumors, but more effective adjuvant therapy will be necessary to improve long-term prognosis.

Adult↗
PubMed1999

Left atrial approach to big myxoma with angiographically visible neovascularity. Report of one case.

In this article, we report a 65-year-old man with a large atrial myxoma arising from the posterior wall and from the base of the right inferior pulmonary vein. The big neoplastic mass showed a large implant site. A rare atrial myxoma neovascularity arising from the atrial circumflex artery was very clearly visualized by selective coronary arteriography. The surgical approach used to resect this tumor was an isolated left atriotomy that provided excellent exposure and safe excision.

Aged↗
PubMed1998

Macroenzyme investigation and monitoring in children with persistent increase of aspartate aminotransferase of unexplained origin.

Ten children with asymptomatic persistent cryptogenic increased serum levels of aspartate aminotransferase (AST) were screened for detection and monitoring of AST macroenzyme (macroAST). MacroAST was found in 4 patients; their serum AST levels were significantly higher than in those without biochemical evidence of macroAST (mean +/- SD: 515 +/- 433 and 78 +/- 16 IU/L, respectively; P = .0095). MacroAST was a persistent, benign phenomenon and was probably not congenital.

Aspartate Aminotransferases↗
PubMed1997

Long-term results of hydroxyapatite-fibrin glue implantation in plastic and reconstructive craniofacial surgery.

The bone tissue formed in orthotopic or heterotopic implants of granular, porous hydroxyapatite and fibrin glue was examined several (2 1/2-8) years after implantation. The results showed distinct ossification in all cases and the functional situation and external appearance were also satisfactory. The reconstituted spongy and compact bone underwent a remodelling process similar to that of normal bone. Most of the hydroxyapatite granules were embedded in the bone tissue; a few were very close to the fibrillar connective tissue of the intertrabecular spaces and were either covered by osteoid-like collagenous borders or were in contact with osteoclast-like giant cells. Even if the results refer only to a few patients, and were obtained from a cross-sectional study, they allow the conclusion to be reached that the implantation of porous hydroxyapatite and fibrin glue leads to the formation of long-lasting bone whose hardness is equal to, or greater than, that of normal bone.

Adult↗
PubMed1997

Comparison of new rapid methods for D-dimer measurement to exclude deep vein thrombosis in symptomatic outpatients.

Eighty-seven outpatients consecutively admitted to the emergency unit of our hospital with clinically suspected first deep vein thrombosis (DVT) of a leg had D-dimer levels measured by the following recently introduced fast methods: VIDAS (bioMerieux), LPIA (Mitsubishi), Nephelotex (Biopool), Nycocard (Nycomed) and Instant.I.A. (Diagnostica Stago). A latex agglutination test (Minutex, Biopool) was also performed and a classical ELISA (Gold EIA, Agen) used as reference. Venography was performed in all patients, with DVT diagnosed in 42 (37 proximal). All the new methods can be adopted in emergency situations, since they are suited for individual tests, are rapid and the reagents ready to use. All the methods proved to have a good interassay reproducibility. The new D-dimer and latex agglutination tests showed negative (88-96%) and positive (63-81%) predictive values similar to those of ELISA (92% and 71%, respectively), though the still wide confidence intervals suggest larger patient population series be investigated. As regards clinical application, the use of these tests to rule out DVT should be tested in prospective clinical follow-up trials where anticoagulation is withheld in subjects with negative non-invasive reliable vascular tests and normal D-dimer levels.

Biological Assay↗
PubMed1997

Osteogenic response to hydroxyapatite-fibrin implants in maxillofacial bone defects.

Bone formation in hydroxyapatite-fibrin implants has been reported several times. However, available studies refer to experimental animals, or are limited to short periods after implantation. We report the results of histological, histochemical and ultrastructural studies carried out 2.5-8 yr after implantation of non-resorbable, porous hydroxyapatite (HA) and fibrin glue in human maxillofacial bones. Prominent ossification was found in all cases, with the presence of normally structured spongy bone. HA granules were embedded in the calcified bone matrix. They had not elicited inflammatory reactions and did not induce bone resorption. Ossification was preceded by the appearance of alkaline phosphatase activity on fibroblast-like cells, and by the formation of dense collagenous layers, similar to osteoid borders, on the surface of HA granules. The early phases of the calcification process occurred in these borders, with the appearance of calcification nodules adjacent to alkaline phosphatase-positive osteoblast-like cells. A remodeling process similar to that occurring in normal bones was found in the newly formed bone. These results justify the conclusion that HA-fibrin implants lead to the formation of long-lasting bone that does not differ from that of the normal maxillofacial skeleton. Mixing the HA granules with fibrin has the advantage of creating an easily mouldable material which can be adapted to any skeletal surface and stays in place after surgery.

Alkaline Phosphatase↗
PubMed1997

[Deep venous thrombosis. Evaluation of a non-invasive diagnostic procedure based on compression ultrasonography and measurement of D-dimer plasma levels].

BACKGROUND: Clinical diagnosis of deep venous thrombosis (DVT) of the leg is unreliable. An accurate diagnosis is important for therapeutic decision since anticoagulant treatment, though potentially dangerous, is useless in case of a false positive diagnosis, whereas a false negative diagnosis may lead to withdrawal of an extremely necessary anticoagulation. Contrast venography is still recognized as the gold standard method for the diagnosis of DVT, but in recent years a variety of accurate non-invasive methods has been developed. The ultrasound compression sonography (CUS) is considered a simple non invasive test highly sensitive and specific for proximal DVT in symptomatic outpatients, though non adequately sensitive and specific for isolated calf DVT. Plasma D-dimer levels (DD, fibrin degradation products) have a high negative predictive value for DVT. The aim of this study, performed in outpatients with suspected leg DVT, was to validate, versus venography, a non-invasive, easy to perform and fast diagnostic procedure based on a combination of CUS and D-dimer test. End points of the procedure were: confirmation or exclusion of proximal DVT; suspicion of isolated calf DVT in which case the test would be repeated in a few days to detect any possible proximalization of thrombosis. MATERIALS AND METHODS: Sixty-eight consecutive outpatients, 37 male, with clinically suspected first episode of leg DVT were eligible and examined with CUS, DD test and venography. RESULTS: The results showed that the diagnostic procedure under examination has a high sensibility and specificity for DVT. CONCLUSIONS: It can thus be recommended as routine diagnostic procedure in symptomatic outpatients with suspected DVT reserving venography special cases only.

Ambulatory Care Facilities↗
PubMed1997

Ventricular septal rupture after a myocardial infarction: clinical features and long term survival.

BACKGROUND: Ventricular septal defect (VSD) represents a serious complication after acute myocardial infarction (AMI) with an incidence of 1-2%. Surgical treatment is often mandatory in the early period after AMI because of the worsening of the hemodynamic and clinical conditions. METHODS: We reviewed 34 patients complicating AMI who underwent surgical treatment at our Institution from January 1988 to December 1994 (23 males, 11 females, mean age 64.2+/-7.96, range 45-78). The localization of the AMI was anterior in 47.05% but inferior in 52.95% of the patients (p=NS). The mean time between AMI and VSD was 5.24+/-9.31 days. The preoperative NYHA functional class was III-IV in 93% of the patients. QP/QS ratio was 2.7+/-0.65 and the diameter of VSD ranged from 1 to 8 (mean 2.5+/-0.35). In 26 patients (76.4%) an intraortic balloon pump (IABP) was inserted before surgery. Surgical treatment was done after 10+/-17.7 days after VSD appearance through a left ventriculotomy. Ten patients received a concomitant myocardial revascularization. RESULTS: Overall surgical mortality was significantly higher (p<0.05) in patients operated on in the early period after AMI (1+/-1.4 days) and with VSD complicating an inferior AMI. A complete follow-up was possible in all the survivors with a cumulative FU of 1453 month/patients. Two patients received a redo procedure after 30 and 40 days after the first correction because of a residual shunt. We observed 3 late deaths for re-AMI and one for complications after bronchial pneumonia. The actuarial survival rate is 70% at 1 year, 68% at 2 years and 65% at 7 years. NYHA functional class after operation is 1-11 in 91% of the patients. CONCLUSIONS: The major determinant of hospital survival in VSD after AMI in our patient population was the anatomical localization and the early timing of the operation. We believe that a prompt diagnosis and immediate cardiac support (IABP or ventricular assist device) is recommended to obtain a hemodynamic stabilization and to achieve the shaping of stronger cicatricial tissue before surgery. Nevertheless surgical repair of VSD is mandatory when clinical and hemodynamic condition becomes unacceptable. The results in the long term assessment are very satisfying.

Aged↗
PubMed1996

Allele frequency distributions at several variable number of tandem repeat (VNTR) and short tandem repeat (STR) loci in a restricted Caucasian population from south Italy and their evaluation for paternity and forensic use.

Allele frequencies at six VNTR loci, 11 STR loci, and at the HLA-DQA1 locus were evaluated in a well-defined population from Campania (South Italy). The allele frequencies of three VNTR loci, 11 STR loci, and the HLA-DQA1 locus were compared with data obtained from a general Caucasian reference population in the USA. The aim of this study was to determine the power of each single locus and group of loci for forensic and paternity testing purposes. Significant differences between the allele frequencies of the two populations were found in two VNTR loci, four STR loci and in the HLA-DQA1 locus. The two populations were in Hardy-Weinberg equilibrium for the STR loci, but as expected, not for some VNTR loci. It was also found that: (i) the discriminatory power of two STR systems (nine and 11 loci, respectively) is similar in the two populations analysed; and (ii) that the allele frequencies for the STR systems of a large reference population can always be applied to subjects of a small subpopulation. In conclusion, for forensic purposes and for paternity testing, most of the 11 STR loci examined can be analysed using allele frequencies from a general Caucasian reference population without typing subpopulations, whereas the VNTR loci must be subtyped.

Adult↗
PubMed1996

[Right-to-left interatrial shunt with normal pulmonary pressures after pneumonectomy. Apropos of a case with severe cyanosis following left pneumonectomy].

Atrial septal defects usually give rise to left-to right in the absence of obstruction of the pulmonary outflow tract or pulmonary hypertension. The authors report a case of atrial septal defect with a right-to-left shunt despite normal pulmonary pressures at catheterisation in a 56 year-old-man who had undergone left pneumonectomy 6 months previously. The shunt was responsible for major arterial desaturation aggravated by the left lateral or dorsal decubitus position. Surgical closure of the defect resulted in cure with disappearance of cyanosis and normalisation of blood gases. The physiopathological mechanisms of these right-to-left shunts with normal pulmonary pressures are discussed with reference to previously reported cases in the literature.

Blood Gas Analysis↗
PubMed1994

Inositol-specific phospholipase D activity in health and disease.

1. We report the first demonstration of the pathophysiological importance and clinical applications of the relatively recently discovered circulating enzyme, phosphoinositol-specific phospholipase D. This enzyme is known to cleave the large variety of important cell-surface molecules linked to the cell membrane by glycan-phosphatidylinositol linkages (glycan-phosphatidylinositol anchors). 2. When measured in the sera of healthy individuals, phosphoinositol-specific phospholipase D activity was found to show a strong negative correlation with age, the degree of depreciation being greater than that measured for most other analytes. 3. Serum phosphoinositol-specific phospholipase D activity was considerably depressed in patients presenting with conditions leading to reduced liver synthetic reserve, such as hepatocellular carcinoma or liver cirrhosis caused by chronic viral hepatitis, and correlated with reduced albumin levels in these conditions, indicating that the liver is the site of phosphoinositol-specific phospholipase D synthesis and that phosphoinositol-specific phospholipase D may be used as an additional marker of liver synthetic reserve. 4. When measured in patients with acute liver disease, such as acute viral hepatitis, or in patients with bronchopneumonia, phosphoinositol-specific phospholipase D activity was found to be significantly raised, demonstrating features characteristic of an acute-phase reactant. 5. These findings indicate that, besides its pathophysiological importance, phosphoinositol-specific phospholipase D and the measurement of its activity in serum may have a useful place in the investigation of a range of clinical conditions, including tissue injury and inflammation.

Acute Disease↗
PubMed1994

Activation of blood coagulation after abrupt or stepwise withdrawal of oral anticoagulants--a prospective study.

The occurrence of a "rebound hypercoagulable state" in patients after dicontinuation of oral anticoagulants is still a matter of debate and no definite recommendation can be made on the best procedure for anticoagulant withdrawal. The present study investigated the changes in the levels of markers of activated blood coagulation in 32 patients (pts) in whom warfarin treatment (for venous thromboembolic disease) was randomly withdrawn abruptly (n = 17, group A) or gradually (n = 15, group B: 2/3 of initial dose the 1st week, 1/3 the 2nd weeks and nothing from the 3rd week on). Blood was sampled at baseline, once a week for the first three weeks and after 2 months. At the 1st week group A had significantly higher F1+2 and TAT values (p < 0.001); at the 2nd week F1+2 levels remained higher (p < 0.05) though INR values were not different from those of group B. After baseline, higher than normal F1+2 levels were recorded in 32/66 (48%) controls in group A vs 15/60 (25%) in group B (p < 0.01); at the 2nd week, 10/17 (59%) patients in group A vs 1/15 (7%) in group B still had higher than normal F1+2 levels (p < 0.01). The values of areas under curve (AUC) and maximum concentrations of all variables were not statistically different in the two groups; however, very high levels were observed in a few cases of group A. Thrombotic events (one DVT recurrence and one thrombophlebitis in a varicose vein) occurred in 2 pts of group A, both with high F1+2 and TAT AUC values.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1993

A method for the assay of phosphatidylinositol-specific phospholipase D activity in serum.

A reproducible substrate for the assay of phosphatidylinositol-specific phospholipase D (PIPLD) can be prepared by extracting alkaline phosphatase from placental tissue with n-butanol under alkaline conditions. The alkaline phosphatase thus prepared retains its hydrophobic glycan phosphatidylinositol (GPI) anchor and aggregates into high M(r) forms. Incubation with serum hydrolyses the phosphate inositol linkage by PIPLD action, producing a less lipophilic, non-aggregated isoform of alkaline phosphatase. Three methods of measuring the amount of this isoform produced after a timed incubation with serum are described and compared: two types of phase partitioning systems, and electrophoresis and densitometry of the products after gradient-pore electrophoresis. All give comparable and reproducible measurements of PIPLD; however, the electrophoretic method is preferred for routine analysis.

Alkaline Phosphatase↗