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Biomedical subjects

M Cattaneo

Publications and source records attributed to M Cattaneo.

At least 163 records · Page 9Linked to original sources
PubMedDate not supplied

No evidence for SEL1L as a candidate gene for IDDM11-conferred susceptibility.

BACKGROUND: The SEL1L gene is located on human chromosome 14q24.3-31 close to D14S67 which has been previously proposed to be a type 1 diabetes mellitus locus (IDDM11). Sel-1 is a negative regulator of the Notch signalling pathway and SEL1L is selectively expressed in adult pancreas and islets of Langerhans. This suggests that SEL1L may be a candidate gene for IDDM11. METHODS: We have analysed two newly identified CA-repeat polymorphisms within the genomic sequence of the SEL1L locus for association with type 1 diabetes mellitus (T1DM) in 152 Danish T1DM-affected sib-pair families and in 240 Sardinian families (229 simplex and 11 sib-pair families). RESULTS: No evidence for association of the two SEL1L markers with T1DM was observed in either the Danish or the Sardinian families. We have also used allelic sharing methods to analyse linkage with T1DM in the IDDM11 region using the same markers and the Danish collection of affected sib-pair families. No evidence of linkage was observed (Z(max)=0.86). CONCLUSION: Although several lines of evidence suggest that SEL1L might be a candidate for IDDM11-conferred susceptibility to T1DM the present study does not support this hypothesis.

Alleles↗
PubMedDate not supplied

High-purity factor VIII concentrates produced without using monoclonal antibodies.

Manufacturers are attempting to increase the purity of FVIII concentrates. A strategy pursued by some is that of including a purification step (gel filtration, ion-exchange or affinity chromatography) that yields concentrates with an intermediate or final specific activity of 35 to 250 IU FVIII/mg of protein. The specific activity of the final product may be lower because serum albumin is added to some concentrates to stabilize FVIII. In hemophiliacs treated with these concentrates, FVIII recovery and half-life are at least as good as those for less pure concentrates. In patients with von Willebrand disease, these concentrates increase plasma levels of FVIII, but their capacity to normalize the bleeding time is not well established. The hypothesis that their reduced alloantigen load might slow the progression of human immunodeficiency virus (HIV) infection is still not validated, but a few prospective studies are now attempting to address this issue. All the concentrates undergo virucidal procedures based on pasteurization or treatment with solvent/detergent. It is well established that these virucidal methods and donor screening avoid HIV transmission. A recent large study has shown that a pasteurized concentrate carries a low risk of transmitting viral hepatitis. The assessment of safety from hepatitis of concentrates treated with solvent/detergent is based on favorable preliminary results.

Acquired Immunodeficiency Syndrome↗
PubMedDate not supplied

Predictive value of coagulation tests in arterial thrombosis.

In five large-scale prospective studies the predictive value of hemostatic parameters indicating the occurrence of arterial thrombotic diseases has been estimated in healthy individuals. All the studies have consistently found a statistically significant association between hyperfibrinogenemia and arterial thrombotic diseases. In two studies, increased levels of factor VII were associated with an increased incidence of ischemic heart disease. The relationship between arterial occlusive diseases and plasma levels of fibrinogen or factor VII was closer than that for other well established risk factors such as plasma cholesterol. These data indicate the important pathogenetic role carried out by alterations of the clotting system in occlusive arterial diseases.

Adult↗
PubMedDate not supplied

Alloantibodies in congenital von Willebrand's disease.

In a review of the literature published in 1984 we identified (from 13 kindreds) 15 patients with severe von Willebrand's disease (vWD) reported to have developed alloantibodies. In order to reexamine the problem, a questionnaire was sent in 1989 to 141 hemophilia centers in America and Europe; 101 answers were received. These dealt with a total number of 1,720 patients with vWD (all types) and 231 patients with severe (type III) vWD. Besides the 15 cases reported in 1984, 6 additional cases of anti-vWF alloantibodies were reported, i.e., one from Spain (a relative of a previously reported case), two from Venezuela (brother and sister) and three from North Carolina (unrelated patients). All these cases and those previously reported share the following features: occurrence of alloantibodies in multitransfused patients with severe vWD, poor clinical and laboratory response to replacement therapy with cryoprecipitate, inhibition of ristocetin-induced platelet aggregation. During the survey, an unusual antibody to FVIII:C with no reactivity towards vWF was reported in a multitransfused girl (from Tennessee) with type III vWD. It seems therefore that although the development of alloantibodies is a rare complication of severe vWD, due to its negative effect on the response to treatment it needs a prompt identification.

Female↗
PubMedDate not supplied

Platelet survival and thrombosis.

This study examined the relation among platelet survival, thrombosis, and repeated vessel injury. With the use of 51Cr-labeled platelets, indwelling aortic catheters were shown to reduce platelet survival in rabbits and rats. In rabbits, thrombi were observed mainly at the aortic bifurcation and at the tip of the catheter. The amount of thrombus that formed in rabbits with short and long catheters was similar, but platelet survival was shortened only in rabbits with short and long catheters was similar, but platelet survival was shortened only in rabbits with long indwelling aortic catheters. In rats, the aortic catheters did not cause thrombosis, and platelet survival was shortened significantly in rats with both short and long catheters, but was more pronounced in animals with longer catheters. In both rabbits and rats, long aortic catheters caused more extensive vessel injury than the short catheters and this was associated with greater platelet interaction with the vessel wall. Platelet survival cannot be used as an estimate of thrombus formation, but may reflect the extent and frequency of vessel wall injury. thus, shortened platelet survival may represent increased platelet interaction with the damaged arterial wall and increased platelet consumption.

Animals↗
PubMedDate not supplied

The expression of SEL1L and TAN-1 in normal and neoplastic cells.

We have previously reported on the isolation and chromosomal mapping of a novel human gene (SEL1L), which shows sequence similarity to sel-1, an extragenic suppressor of C. elegans. sel-1 functions as a negative regulator of lin-12 activity, the latter being implicated in the control of diverse cellular differentiation events. In the present study we compare the expression patterns of SEL1L and TAN-1, the human ortholog of lin-12 in normal and neoplastic cells. We found that, whereas both genes are expressed in fetal tissues at similar levels, they are differentially expressed in normal adult and neoplastic cells. In normal adult cells SEL1L is generally present at very low levels; only in the cells of the pancreas does it show maximum expression. By contrast, SEL1L is generally well represented in most neoplastic cells but not in those of pancreatic and gastric carcinomas, where transcription is either downregulated or completely repressed. TAN-1 on the other hand is well represented in almost all normal and neoplastic cells, with very few exceptions. Our observations suggest that SEL1L is presumably implicated in pancreatic and gastric carcinogenesis and that, along with TAN-1, it is very important for normal cell function. Alterations in the expression of SEL1L may be used as a prognostic marker for gastric and pancreatic cancers.

Adult↗
PubMedDate not supplied

Production of a monoclonal antibody directed against the recombinant SEL1L protein.

SEL1L, highly similar to the C elegans sel-1 gene, is a recently cloned human gene whose function is under investigation. SEL1L is differentially expressed in tumors and normal tissues and seems to play a role in tumor growth and aggressiveness. We used the recombinant N-terminus of the SEL1L protein to immunize a Balb/c mouse and produce a monoclonal antibody. A hybridoma secreting an antibody specifically reacting on the SEL1L recombinant fragment was selected. This monoclonal antibody, named MSel1, recognizes the SEL1L protein by Western blotting, immunofluorescence and immunohistochemistry on normal and tumor cells. MSel1 is able to recognize SEL1L even on archival tumor specimens and is therefore particularly appropriate to study SEL1L involvement in tumor progression.

Animals↗
PubMedDate not supplied

[Meningococcal meningitis in the adult complicated by cutaneous necrosis: description of a clinical case].

Meningitis and meningococcal sepsis are emergency conditions associated with high mortality. The outcome is worsened by the onset of disseminated intravascular coagulation. This may present, particularly in children, with the clinical picture of purpura fulminans, characterized by extensive necrotic-hemorrhagic skin lesions, ischemia of the extremities and multiorgan failure. It has been observed that depletion of coagulation inhibitors, particularly protein C, plays a key role in the development of this severe complication. We describe the case of a woman who presented in the Emergency Room with signs of meningitis, drowsiness, hypotension and petechie. Bacterioscopic examination of the cerebrospinal fluid evidenced characteristic gram-negative diplococci. Laboratory data disclosed initial disseminated intravascular coagulation with low levels of proteins C and S. Following intravenous infusion of antibiotics, fluids and fresh frozen plasma, the patient's condition rapidly improved. However, multiple skin lesions appeared on her fingers, toes and heels. It is likely that the infusion of coagulation inhibitors contained in fresh frozen plasma, prevented evolution to full-blown purpura fulminans. The first choice treatment for purpura fulminans in meningococcal sepsis is infusion of protein C concentrate, which is not, however, currently available on the market.

Aged↗
PubMedDate not supplied

[Mullerian adenosarcoma of the uterus].

The paper describes a case of mullerian adenosarcoma of the uterus. The patient, a 58-year old postmenopausal woman, presented with atypical vaginal bleeding and enlarged uterus. A total hysterectomy was performed. The intrauterine mass measured 10 cm in largest diameter and had bossolated surface and 2 pedicles of 3 and 4 mm each. The cut section was white-pink in color and contained small cysts in about two third of its volume. Myometrium was not infiltrated by tumor. On microscopic examination, the tumor consisted of round glands surrounded by myofibroblastic stroma which was condensed around the glands. Glandular epithelium was pseudostratified and showed ciliated, tubal and mucinous differentiation. Periglandular stroma cells were atypical and pleiomorphic and mitotically active. The part of the tumor which lacked glands had prominent smooth muscle differentiation. Immunohistochemically stromal cells stained positively for vimentin and smooth muscle specific alpha-actin; desmin without predigestion was extensively negative.

Diagnosis, Differential↗