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Biomedical subjects

M Belvedere

Publications and source records attributed to M Belvedere.

At least 19 recordsLinked to original sources
PubMed2002

New HLA-A*11 allele, A*1112, identified by sequence-based typing.

In this report, we describe the identification of HLA-A*1112, a novel HLA-A*11 allele found in two Italian families. The new allele was detected during routine HLA typing by a polymerase chain reaction sequence-specific primer and was confirmed by high-resolution sequencing-based typing. The nucleotide sequences of HLA-A*1112 exons 2 and 3 are identical to HLA-A*11011 except for a single nucleotide substitution in codon 90 (GAC-->GCC).

Alleles↗
PubMed2001

Screening for autoantibodies to tissue transglutaminase reveals a low prevalence of celiac disease in blood donors with cryptogenic hypertransaminasemia.

Patients with chronic cryptogenic hypertransaminasemia are at high risk of developing celiac disease (CD). In fact, among the various serological disorders, CD patients at onset frequently present hypertransaminasemia. In this study, we evaluated usefulness and reliability of the new test for antitissue transglutaminase (tTG) in screening for CD as well as in estimating the prevalence of CD in a population of blood donors presenting unexplained hypertransaminasemia at donation. Controls were 180 consecutive healthy donors without hypertransaminasemia and 20 CD patients with known antiendomysial antibody (EmA) positivity. Out of 22,204 blood donors over a period of 2 years, we found 258 subjects (1.2%) with cryptogenic hypertransaminasemia. Four of these subjects (1.5%) were positive for anti-tTG, but only 3 of them were positive for EmA. EmA were negative in all the remaining hypertransaminasemia subjects. In the control groups, anti-tTG antibodies were negative in all the 180 healthy donors without hypertransaminasemia, but positive in all the CD patients known to be EmA positive. 3 of the 4 subjects positive for anti-tTG, including 2 who were also EmA positive, underwent biopsy of the distal duodenal mucosa which showed a picture compatible with CD only in the 2 patients with concomitant EmA positivity. After 3 months of gluten-free diet, the serum transaminase values normalized in these 2 patients. In conclusion, the prevalence of CD in our blood bank population was lower than that reported in other similar studies, but the new test for anti-tTG showed a good sensitivity and reliability, and, therefore, it can be proposed as a first-level test in screening for CD in selected populations such as subjects with hypertransaminasemia.

Adult↗
PubMed1999

Anterior thoracic intradural arachnoid cysts. Case report and review of the literature.

Anterior thoracic intradural arachnoid cysts (ATIACs) are a rare cause of spinal cord and nerve root compression, for which different treatment strategies have been proposed. Although ATIAC represents a well-known clinical entity, the choice of surgical method has not been uniform, and no study has been specifically designed to compare the results of the different treatment options adopted. The authors report the case of a 40-year old man with a 1-year history of dorsal pain, weakness in the lower extremities, gait disturbance, and mild sexual and urinary dysfunction. On neurological examination spastic paraparesis, lower-extremity hypertonia, and hypesthesia below T-2 were demonstrated. Magnetic resonance imaging revealed the presence of an ATIAC at the T-2 level. The patient underwent complete microsurgical removal of the cyst. The authors conducted a Medline search of the relevant literature from 1966 to 1998 and also obtained data on other cases in which patients underwent surgical treatment of ATIAC. The literature search yielded five such cases. Treatment strategies were complete excision and fenestration followed by placement of a shunt. In addition, one case was characterized by intraoperative cyst rupture during retraction of the spinal cord. Correct preoperative workup coupled with microneurosurgical technique allow for successful removal of the lesion and excellent outcome. Based on the literature review and the results in our case, the complete excision of ATIAC is associated with an excellent outcome, which is different from results achieved using other surgical strategies.

Journal Article↗
PubMed1998

Does subarachnoid blood extravasation per se induce long-term neuropsychological and cognitive alterations?

Although recent advances in medical and management strategies have reduced the mortality and morbidity rates related to subarachnoid haemorrhage (SAH), patients who survive a SAH may remain nevertheless affected by persistent cognitive and neuropsychological disturbances. The presence of these deficits has been attributed to the neurotoxic effects of the widespread subarachnoid blood. To assess the long-term neuropsychological and cognitive outcome related to subarachnoid blood extravasation per se we evaluated 20 patients affected by an unknown origin subarachnoid haemorrhage, and having SAH characteristics generally considered predictive of a favourable outcome. Patients were enrolled after a one-year interval from the initial insult, and were selected accordingly to a pre-designed protocol. We employed a complete battery of tests, assessing general cognitive and language functions, memory and construction ability, attention and vigilance, anxiety and depression. The results were compared with normal reference values and with performances of a socio-demographically homogenous sample of control volunteers. This study did not evidence any significant long-term cognitive and neuropsychological alteration after subarachnoid blood extravasation. These results indicate that the presence of subarachnoid blood initiate a number of secondary mechanisms of pathology.

Adult↗
PubMed1998

Supratentorial dorsal cistern epidermoid cyst in childhood.

Epidermoid cysts (ECs) are rare developmental lesions occurring anywhere along the central nervous system. Usually affecting adult patients, the occurrence of supratentorial dorsal cistern ECs has been reported in only 1 certain case of pediatric age. An additional pediatric case is presented. An 11-year-old boy had an 8-year history of petit mal seizures. Neurologic examination on admission was negative. T1-weighted magnetic resonance images demonstrated homogenous, hypointense, intradural, extracerebral, right frontal, precentral, parasagittal mass with relatively high signal intensity on T2-weighted images. The lesion was completely removed using a microneurosurgical technique with special care taken with regard to the adjacent nervous and vascular structures. Histologically, an EC was diagnosed. The patient had no recurrence for 2 years and seizures were significantly reduced. This case suggests the need to include ECs in the differential diagnosis of intradural supratentorial extracerebral lesions in childhood.

Brain Diseases↗
PubMed1996

Influence of metabolic control on thromboxane biosynthesis and plasma plasminogen activator inhibitor type-1 in non-insulin-dependent diabetes mellitus.

We have previously shown that tight metabolic control by insulin therapy reduced thromboxane-dependent platelet activation in non-insulin-dependent diabetes mellitus (NIDDM) patients. The present study was undertaken to determine whether a similar effect could be obtained without switching diabetics in secondary failure to insulin treatment. For this purpose, we gave strict diet and exercise advise program and adjusted on a weekly basis the oral antidiabetic therapy (glipizide) that 26 patients with NIDDM had been given over the previous months. Basal measurements of urinary 11-dehydro-TXB2 and PAI-1 confirmed previous findings of enhanced levels of these parameters in NIDDM patients with macrovascular disease in comparison to age- and sex-matched controls. After 2-6 weeks, 16 patients achieved tight metabolic control associated with significant reduction of both thromboxane biosynthesis and PAI-1 levels; 10 patients remained in poor control and no significant decrease of both parameters was observed. We conclude that reduction of in-vivo platelet activation and PAI-1 antigen levels after metabolic improvement obtained by frequent reassessment of sulphonylurea therapy together with strict diet and exercise programs may have beneficial effects on the progression of diabetic micro- and macrovascular disease.

Adult↗
PubMed1993

Seckel's syndrome: a case report.

The authors describe a case similar to the complex syndrome described by Seckel (1960), "dwarf-headed dwarfism." This case differs from others previously reported because of slight hypophyseal hypoplasia with a slight reduction of human chorionic gonadotrophin (HCG) serum levels, and because of the parent's consanguinity (first cousins). A comparative critical examination was carried out on the 44 cases of Seckel's syndrome described in the literature. Only 19 of these cases appear to be comparable with Seckel's description, while the others are dubious, due to incomplete data. Some can be identified as ordinary cases of dwarfism with microcephaly or mental deficit. Until more precise and objective parameters are established, it would be advisable to refer to this particular form of dwarfism as "Virchow-Seckel type dwarf-headed dwarfism," in order to avoid using the more binding term "syndrome" and the misleading term "bird-headed."

Abnormalities, Multiple↗
PubMed1992

Effects of defibrotide on fibrinolytic activity in diabetic patients with stable angina pectoris.

18 type II diabetes mellitus patients with coronary artery disease (CAD) have been studied. Tissue plasminogen activator (t-PA) antigen and activity, plasminogen activator inhibitor (PAI) antigen and activity, thrombin-antithrombin III (TAT) complexes were determined in blood samples. Diabetic CAD patients showed higher TAT levels with clearly increased PAI levels whereas t-PA levels levels were similar in patients and controls. Long term defibrotide treatment induced marked changes in fibrinolytic parameters of these diabetic patients with CAD with increased t-PA activity, that could be related to an evident reduction of PAI antigen and activity. Drugs able to modulate PAI activity may be useful in clinical conditions at high risk of thrombotic vascular complications like diabetics with stable angina.

Aged↗
PubMed1989

[Treatment of neuroblastoma. Results of therapy at the Zurich University Pediatric Clinic, 1967-1987].

Between 1967 and 1987 58 children with the diagnosis of neuroblastoma or ganglioneuroblastoma, all under 10 years of age, were admitted to the University Children's Hospital of Zurich for treatment. According to Evan's classification, 8 (14%) patients had stage I disease, 5 (9%) stage II, 6 (10%) stage III, 26 (45%) stage IV, and 13 (22%) stage IV-S. The 2-year survival rate of 46 patients with adequate follow-up was 6/6 (100%) for stage I, 4/4 (100%) for stage II, 5/6 (83%) for stage III, 6/23 (26%) for stage IV, and 7/7 (100%) for stage IV-S. The excellent results in stage IV-S patients confirm the active but cautious treatment policy. Analysis of catecholamine metabolites in 24-hour urine collections proved to be a reliable method to evaluate the further course: all 21 children who showed complete normalization of metabolite levels during therapy, survived.

Child↗
PubMed1988

Report of one case of familial sarcoidosis.

Familial sarcoidosis is a quite unusual occurrence. We describe two affected sisters, in which the clinical features of the disease were fairly similar. Interestingly, the two patients and two unaffected siblings share an HLA haplotype [A10 (26); CW7; B16 (38); DRW6; DQW1] rare in Caucasians.

Adult↗
PubMed1985

HLA compatibility and human reproduction.

Studies carried out on inbred strains of mice have shown that conceptuses which differ at the MHC antigens from their mothers appear to enjoy a selective advantage when compared with conceptuses which are more compatible. In humans a highly significant degree of MHC compatibility can be found in couples with a history of repetitive spontaneous abortions with unknown aetiology. We HLA - typed 28 selected couples with a history of three or more consecutive spontaneous abortions of unknown aetiology and 28 normal couples as control. We found that 22/23 (79%) aborter couples shared common HLA antigens, while normally fertile couples only 7/28 (25%) (p less than 0.001). The finding of a significant HLA compatibility in couples having abortions might be consistent with the hypothesis that blocking antibodies, formed in early pregnancy as response to HLA antigens, are perhaps necessary for a successful gestation. The factor causing abortion in couples sharing HLA antigens might also refer to the homozygosity for fetal genes in linkage with HLA alleles. The sharing of HLA alleles could be a marker for other genes of the same region which are lethal for the embryo in the homozygous state.

Abortion, Spontaneous↗
PubMed1984

HLA typing in couples with repetitive abortion.

Highly inbred strains of mice have a reduced reproductive capacity. In contrast, an increased capacity is associated with an immune response to placental antigens. In humans, repeated miscarriages seem to be associated to a higher frequency of HLA allele BW35. Twenty couples with repetitive spontaneous abortions of unknown etiology and 20 control couples with normal fertility were HLA typed. The sera of wives of infertile couples were tested against the husbands lymphocytes in complement dependent lympholysis test in order to detect anti-paternal HLA antibodies. The data show an HLA significant compatibility between the husbands and the wives with a history of repetitive spontaneous abortions. The best probability of evaluating different loci is that of HLA-A (p less than 0.01). The frequency of HLA-BW35 in women with repeated miscarriages is higher than in control women or than in the general Italian population. In infertile couples, all the sera collected from the wife were negative against the husband lymphocytes.

Abortion, Habitual↗
PubMed1982

Inhibition of DNA replication and growth of several human and murine neoplastic cells by aphidicolin without detectable effect upon synthesis of immunoglobulins and HLA antigens.

Aphidicolin inhibits DNA replication and growth of all tested human and murine neoplastic cells including leukemic T- and B-lymphocytes and melanocarcinoma cells. The concentration of aphidicolin causing 50% inhibition of DNA synthesis in all of the tested neoplastic cell lines is similar to that necessary to inhibit DNA synthesis in HeLa cells by 50%. The mechanism of inhibition of DNA synthesis in neoplastic cells is again due to the inhibition of DNA polymerase alpha by aphidicolin. Aphidicolin at a concentration 100 times higher than that causing 50% inhibition of DNA synthesis and cell growth had no effect on total protein synthesis, on the secretion of immunoglobulins, or on the expression of HLA antigens which are involved in relevant phenomena of the immune response.

Animals↗