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Biomedical subjects

G Marchetti

Publications and source records attributed to G Marchetti.

At least 73 records · Page 4Linked to original sources
PubMed1995

[The concept of metamorphosis in psychopathology].

The authors take into account the psychopathological issue of "metamorphosis" (or transformation of the Self) firstly with the observation of some clinical cases. The psychopathological problem is set as a disorder of the s.c. "awareness of the Self" and considered in the light of a close relationship with the subjective body experience. The clinical discussion on the metamorphosis problem is developed taking also into account the data coming from the anthropological research.

Depersonalization↗
PubMed1995

[Treatment of superior vena cava syndrome by metal stents. Preliminary experience].

This study was aimed at verifying the feasibility of stent placement in superior vena cava syndrome (SVCS). From April, 1993, to February 1995, fifteen patients (12 men, 3 women, age range: 48-72 years, average age: 58 years), were treated for malignant stenoses involving superior vena cava in 9 cases, right innominate vein in 3, left innominate vein in 2 and subclavian veins in 1. All patients had been submitted to CT angiography and digital venography to assess side, length and type of the stenosis. In 6 patients locoregional fibrinolysis (with urokinase) was performed. The stenosis was successfully dilated by balloon catheter and the stent was finally removed. Subclavian and innominate veins stenoses were treated with Wallstent, using brachial approach, while stenoses of superior vena cava required transfemoral catheterization for Gianturco-Rosch "Z" stent placement. A control venogram was performed after stenting, with the evaluation of pre/post stent pressure gradient, and later at 1, 3 and 6 months. The stents were positioned in all patients with immediate technical success; no major complications occurred. Two recurrences were successfully resolved. Radiation and/or medical therapy without vascular disobstruction showed worse results in the treatment of superior vena cava syndrome. The percutaneous placement of self-expandable stents should be not only the therapeutic alternative to surgery but the method of choice in these pathologic conditions.

Aged↗
PubMed1995

[Ion transport in the colon].

The large bowel daily absorbs passively 1500 ml of water down an osmotic gradient created by active electrolyte transports. The system is sustained by the enzyme Na(+)-K+ ATPase, the so called sodium-pump, present on the basolateral membrane of colonocytes. Some pathologic conditions may increase the amount of intraluminal water by inhibiting fluid absorbtion or enhancing fluid secretion. Diarrhoea represents the clinical counterpart of these alterations. Three forms of diarrhoea can be recognized on the basis of pathophysiological alterations. Diarrhoea is due to reduced ionic absorbtion, increased secretion or increased endoluminal osmolality. The drugs used to induce bowel actions or gut lavage increase also intraluminal water content by modifying transmural ionic transports. Laxatives or purges act by increasing either water secretion on endoluminal osmolality and therefore may produce systemic idro-electrolyte imbalance. To avoid this inconvenient an isosmotic electrolyte balanced polyethylene glicol solution (PEG-ELS) has been achieved. In addition orally administred PEG-ELS solution cleans the colon during its intestinal transit without producing relevant transmural water-ionic movements. Aim of this article was to describe the normal ionic transport, and its alterations in pathologic and pharmacologic conditions. Details on PEG-ELS were also given. This solution provides for an effective colon preparation for endoscopic or surgical procedures and resulted to be safe for patients with delicate fluid-electrolyte balance.

Bicarbonates↗
PubMed1994

The association of ovarian dysgerminoma and gonadoblastoma in a phenotypic female with 46 XY karyotype.

Dysgerminoma is the most common malignant germ cell tumor of the ovary. It can be found either in a pure form or mixed with other germinal elements. It has also been reported arising from gonadoblastoma, which may be regarded as an in situ germ cell malignancy. We describe the case of an 18-year-old patient who had a dysgerminoma arising from the left ovary and a gonadoblastoma replacing the right ovary. She was a nonvirilized phenotypic female, with 46, XY genotype. The patient underwent bilateral salpingo-oophorectomy with total hysterectomy, appendicectomy, infracolic omententectomy, selective pelvic and para-aortic lymphadenectomy, peritoneal random biopsies. The surgical-pathological stage of dysgerminoma was retroperitoneal stage III. The patient received postoperative radiotherapy on the whole pelvis and para-aortic lymph nodes and precautional radio therapy on the mediastinum and supraclavicular lymph nodes. She is currently alive with no evidence of disease after 46 months from surgery.

Adolescent↗
PubMed1993

Molecular analysis of factor VII deficiency in Italy: a frequent mutation (FVII Lazio) in a repeated intronic region.

Molecular defects and polymorphic haplotypes of coagulation factor VII gene were studied in eight unrelated Italian subjects with factor VII deficiency, seven having the factor VII- variant, one the factor VIIR variant. An intron 7 mutation, which alters the consensus donor splice site sequence, was found in six subjects. The presence of the founder effect is suggested by their common geographical origin (a mountain area in the Lazio region) and by the identical polymorphic haplotype underlying the mutation. A different mutation, also located in the 5' monomer of the repeated intron 7 sequence, was found in the heterozygous condition in a subject from Northern Italy. New polymorphic alleles were detected in the repeated intron 7 region in subjects from Eastern Africa. Two missense mutations in codon 97 (Gly-->Cys, Gly-->Ser), the first found in the compound heterozygous condition with the frequent intron 7 mutation, suggest the presence of a hot spot mutation site in the second epidermal growth factor domain. Two neutral dimorphisms at codon 333Ser and 115His were detected, the last in linkage disequilibrium with the 353Arg/Gln polymorphism, and showing differences in frequency in the FVII deficient and control subjects.

Base Sequence↗
PubMed1993

Multicentric Castleman's disease in a patient with primary Sjögren's syndrome.

A 38-year-old woman suffering from primary Sjögren's syndrome for 2 years developed angiofollicular hyperplasia (multicentric Castleman's disease). In Sjögren's syndrome (SS) a number of findings indicate the presence of a B-cell hyperactivity that may evolve to a lymphoproliferative disorder. This report adds another pathological event to the complex spectrum of lymphoproliferative diseases in SS.

Adult↗
PubMed1993

In-frame deletion of von Willebrand factor A domains in a dominant type of von Willebrand disease.

von Willebrand disease (vWD), the most common inherited bleeding disorder in humans, is very heterogeneous and has been classified into several subtypes. Missense mutations have been found to be responsible for the dominant type II vWD, characterized by qualitative abnormalities affecting von Willebrand factor (vWF) function. The breakpoints of a heterozygous vWF gene deletion (31 Kb), occurring 'de novo' in a patient with a variant of type II vWD, were localized to introns 25 and 34 and sequenced. An Alu repeat in intron 25 was interrupted between the transcriptional boxes A and B. The new junction present in the abnormal von Willebrand factor mRNA was sequenced after reverse transcription of platelet RNA. The codon 1104 (Cys) is followed in frame by the mutated codon 1926 (Cys to Arg), thus removing the complete A domains, found in a wide variety of genes and characterized by independent assembly 'in vitro'. We propose that the abnormal vWF, which carries intact protein domains responsible for vWF dimer and multimer formation, makes ineffective interactions with the normal molecules in the biosynthetic process, causing the dominant type II phenotype through a novel mechanism.

Base Sequence↗
PubMed1993

Symptomatic type II protein C deficiency caused by a missense mutation (Gly 381-->Ser) in the substrate-binding pocket.

A patient with recurrent deep vein thrombosis and heterozygous type II deficiency, characterized by reduced protein C activity in both amidolytic and clotting functional assays, was investigated by direct sequencing of PCR fragments derived from the coding portion of the protein C gene. AG (8856) to A transition was noted in the patient which was not present in healthy controls. This mutation is predicted to cause the substitution of Ser for Gly 381, an evolutionari'y conserved residue in the substrate binding pocket of serine-proteases (Gly 216, chymotrypsin numbering). A computer model of the structure of the serine-protease domain indicates that the properties of the altered protein C molecule can be explained on the basis of steric hindrance between the substituted serine and the substrate arginine side chains.

Adult↗
PubMed1993

Study of a protein S gene polymorphism at DNA and mRNA level in a family with symptomatic protein S deficiency.

A protein S gene polymorphism, detectable by restriction analysis of amplified exonic sequences, was investigated in a family with members affected by protein S deficiency, deep vein thrombosis and ictus. The clinical laboratory findings as well as RFLP analysis were consistent with the presence of a type WP III protein S deficiency clearly marked by a polymorphic allele, thus enabling us to determine the carrier status in several subjects. The RFLP analysis, extended to platelet mRNA after reverse transcription and amplification, demonstrated that the mRNA produced by the putative defective gene was present in a subject affected by thrombosis.

Adult↗
PubMed1993

Lethal midline granuloma: a case of Ki-1 lymphoma.

Lethal midline granuloma syndrome (LMG) is the clinical term generally used to describe a rare clinical entity of unknown cause characterized by a progressive and often fatal ulceration and destruction of the upper airway involving the nose, the paranasal sinuses and the soft tissues of the face. The following histopathologic entities have always been grouped under the term LMG: Wegener granulomatosis (WG), non-Hodgkin lymphoma, polymorphic reticulosis (PR) and idiopathic midline destructive disease (IMDD). Today in order to begin an adequate therapy a differential diagnosis is necessary. The progresses in clinical immunology and immunohistochemistry and cytophotometric findings are useful to define the LMG syndrome better. First of all the LMG must be discriminated from localized WG occurring in the midface. Serologic examinations of patients with WG in its active form show a high percentage of autoantibodies against cytoplasmic structures in leucocytes and monocytes. Moreover a review of the literature allows us to suppose that cases described as IMDD and PR are indeed a large evolutionary spectrum from almost benign to fatal malignant lymphoma. We report a case of Ki 1-lymphoma presenting as LMG syndrome.

Adult↗