PubMed Health⌕ Search

Biomedical subjects

P Simioni

Publications and source records attributed to P Simioni.

121 records · Page 7Linked to original sources
PubMed1989

Partial gene deletion in a family with factor X deficiency.

The presence of gene lesions in coagulation factor X (FX, Stuart factor) was investigated in patients with FX deficiency or an FX abnormality (FX Friuli). The proposita had a heterozygous partial deletion of the FX gene with severe deficiency of FX activity and antigen. The lesion, which was inherited from her mother, removes the 3' portion of the gene coding for the catalytic domain of the factor. In this family, two differently affected FX genes are present, leading to double heterozygosity of the proposita and thus excluding consanguinity of parents. An apparently normal gene structure was observed in the other patient with FX abnormality, suggesting the presence of a small gene lesion.

Alleles↗
PubMed1988

The report of an Italian family with heterozygous protein C deficiency.

A heterozygote protein C deficit was found in 4 members of the same family. The propositus is a 40 year old male with a clear thrombotic tendency. This included repeated thrombophlebitis of the right leg, and one episode of pulmonary embolism. Arterial thrombosis was not noted. The anticoagulant therapy undertaken by the patient appears to be of some benefit in the sense that no recurrence of thrombotic manifestations occurred. One brother and two nephews of the propositus, even though asymptomatic showed reduced levels of Protein C both as activity and antigen. The parallel reduction of Protein C activity and antigen points towards a "true" deficit of Protein C. The normal, although reduced, pattern in the crossed immunoelectrophoresis supplies further confirmation to this interpretation.

Adult↗
PubMed1987

Factor X antigen--factor X activity discrepancy in coumarin treated patients. No relationship with dilution curve.

The plasma of 12 patients on coumarin medication was investigated with regard to factor X antigen, factor X activity, factor X antigen--factor X activity difference (delta) and dilution curve. The plasmas were divided into 3 groups according to the level of anticoagulation (under anticoagulated, normally anticoagulated, over anticoagulated). The average factor X antigen and the average factor X activity were 56.7, 53.0, 34.6 and 25.5, 20.1, 11.1%, respectively for the three groups of patients. The antigen-activity differences (delta) were 21.2, 22.5 and 23.5%, respectively. The degree of inhibition in conventional units was 2.6, 1.7 and 0.4 units for the three groups of patients, respectively. The decrease of "inhibition" with the increase of anticoagulation is not in agreement with the presence of similar levels of pre-factors or delta antigen-activity in the plasma of the three groups of patients. These data are against the presence of inhibitors in coumarin treated patients.

Antigens↗
PubMedDate not supplied

Childhood stroke associated with familial protein S deficiency.

Cerebral infarction is a rare pathology among children and its etiology can be identified in almost two-thirds of cases. The remaining one-third are considered idiopathic. Recently, inherited disorders of blood coagulation predisposing to thrombosis have been taken into account as a possible cause of childhood stroke. We describe here a case of a 6-year-old child presenting with ischemic stroke and protein S (PS) defect. The family study suggested inheritance of the defect. The immunological characterization of PS in the affected family members was consistent with a defect mainly in the free form of PS. In the case here reported no associated predisposing condition to stroke could be identified but familial PS defect was found. No therapy was administered. Nevertheless symptoms disappeared spontaneously and there were no recurrences at the 1 year follow-up. Diagnostic imaging techniques demonstrated that a reduction in the cerebral ischemic area had occurred 2 months after the stroke.

Brain Ischemia↗
PubMedDate not supplied

Acute pancreatitis and deep vein thrombosis associated with HELLP syndrome.

The HELLP syndrome (HS) belongs to the list of obstetric complications believed to be associated with coagulation disorders. It was formerly thought that chronic intravascular clotting (DIC) in the placental vessels was the main cause. A hypercoagulable state has been reported in cases of severe HS associated with microvascular abnormalities that may involve cerebral, placental, hepatic and renal vessels. A case of acute pancreatitis and DVT of inferior cava in a pregnant woman, presenting with HS at 29 weeks, who was found to have a R506Q mutation, is reported. Preeclampsia-associated pancreatitis and DVT have rarely been reported. It is hypothesized that APC-R and Factor V Leiden mutation may prove to be new and more important markers capable of predicting a more significant maternal morbidity associated with HS. Thrombosis prophylaxis may be considered during pregnancy in order to reduce hazardous multiorgan failure (MOF) in women who are heterozygous for Factor V Leiden mutation.

Acute Disease↗
PubMedDate not supplied

Venous and arterial thrombophilia.

BACKGROUND AND OBJECTIVE: The thrombophilic state may be defined as a condition which predisposes to thrombosis. It is well know that the pathogenesis of venous and arterial thrombosis may be different. However, such differences may be more apparent than real. In fact, both venous and arterial thrombosis may occur in any given patient with a thrombophilic state. The aim of this review is to critically analyze the thrombophilic state and define a rational approach to the patient with overt or suspected venous and/or arterial thrombosis. EVIDENCE AND INFORMATION SOURCES: The material examined in the present review includes personal papers in this field, and articles and abstracts published in journals covered by the Science Citation Index. STATE OF ART AND PERSPECTIVES: Both venous and arterial thrombosis may occur in thrombophilic states such as APC resistance, protein C or S defects, and antiphospholipid antibody syndrome. Venous thrombosis is surely more frequent than arterial thrombosis in such conditions but, fortunately, it is usually less severe. Antithrombin deficiency is almost exclusively associated with venous thrombosis. In foreseeing the occurrence of venous or arterial thrombosis in a given thrombophilic patient, one must explore the state of the vessels carefully. Often venous or arterial thrombosis occurs only because a vessel injury is present. Severely decreased blood flow, such as that seen in policythemia vera, may be responsible for arterial or venous thrombosis without any other predisposing cause. From a laboratory stand point there is no sure demonstration that some changes may indicate a more likely occurrence of arterial or venous thrombosis. The same alteration of one or more than one test may be accompanied by either arterial or venous thrombosis or both. One exception to this rule is represented by increased blood viscosity, which is usually associated with arterial thrombosis. The hypercoagulable or thrombophilic state is a single clinical entity that cannot be divided into arterial and venous thrombophilia, although the unfortunate outcome, namely thrombosis, tends to manifest itself in just one district. The preexisting condition of the vessels, together with sudden triggering factors, plays an important role in the transformation of the "sol" into the "gel" that is a thrombosis in any given district.

Algorithms↗
PubMedDate not supplied

The clinical course of deep-vein thrombosis. Prospective long-term follow-up of 528 symptomatic patients.

BACKGROUND AND OBJECTIVE: In contrast to the extensive documentation on the short-term outcome of patients with acute deep vein thrombosis (DVT) of the lower extremities, little is known about the long-term clinical course of this disease. To determine the clinical course of patients with a first episode of symptomatic DVTn over an 8-year follow-up period. The primary aims were to assess the long-term incidence of recurrent venous thromboembolism and that of the post-thrombotic syndrome. In addition, we determined mortality and evaluated potential risk factors for all these outcomes. METHODS: This was designed as a prospective cohort follow-up study. Consecutive symptomatic outpatients with a first episode of venography proven DVT were treated with an initial course of full-dose (low molecular weight) heparin, followed by at least three months of oral anticoagulants. After discharge, they were instructed to wear compression elastic stockings for at least two years. Follow-up assessments were scheduled at three and six months, and then every six months up to eight years. Diagnosis of recurrent venous thromboembolism was made according to standard criteria. The presence of post-thrombotic syndrome was evaluated using a standardized scale. RESULTS: A total of 528 consecutive patients with a first episode of venography confirmed DVT were included in the study. The cumulative incidence of recurrent venous thromboembolism after two, five and eight years was 17.2, 24.3 and 29.7%, respectively. Malignancy and impaired coagulation inhibition increased the risk of recurrent venous thromboembolism (RR = 1.48 and 2.0, respectively). In contrast, surgery and recent trauma or fracture were associated with a diminished risk of recurrent venous thromboembolism (RR = 0.65 and 0.39, respectively). The cumulative incidence of post-thrombotic syndrome after two, five and eight years was 24.5, 29.6 and 29.8%, respectively. The development of ipsilateral recurrent DVT was strongly associated with the risk for post-thrombotic syndrome (risk ratio, 2.4). Survival after eight years was 69%. The presence of malignancy increased the risk of death remarkably (risk ratio, 7.1). INTERPRETATION AND CONCLUSIONS: Symptomatic DVT carries a high risk for recurrent venous thromboembolism that persists for many years, especially in patients without transient risk factors for DVT. The post-thrombotic syndrome occurs in almost one-third of patients and is strongly related to recurrent ipsilateral DVT. Our findings challenge the widely adopted short course of anticoagulation in patients with symptomatic DVT.

Adult↗