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Biomedical subjects

Massimo Franchini

Publications and source records attributed to Massimo Franchini.

At least 37 records · Page 2Linked to original sources
PubMed2006

Urological complications and copper replacement therapy in childhood Menkes syndrome.

BACKGROUND: Urological complications are frequent in Menkes syndrome, a very rare X-linked recessive disorder of copper (Cu) metabolism. AIM: To evaluate the role of Cu therapy in preventing the progression of urological complications. SUBJECTS AND METHODS: We retrospectively enrolled 57 patients with Menkes syndrome (55 published case reports and two of our own unpublished cases) and investigated the reported urological complications, distinguishing the patients with or without Cu replacement therapy and evaluating the efficacy of this therapy in the prevention of urological complications. RESULTS: The most frequent urological complication was bladder diverticulum (38.6% of the total patients); obstruction bladder outflow and rupture of the kidney were less frequent (both 1.8% of the total). The number of congenital urological complications increased progressively by age category; in fact, 77.8% of patients did not report urological complications at the age of 0.4+/-0.2 y, and 28.6% of them displayed > or = two congenital urological complications at the age of 9.3+/-2.6 y. The percentage of urological complications found in younger patients not on Cu therapy did not differ from that of older patients treated with Cu therapy. A comparison between patients of the same age interval, who were or were not treated with Cu, showed that treated children had fewer urological complications than untreated children. CONCLUSION: Our investigation suggests that Cu therapy in patients with Menkes syndrome does not prevent the progression of urological complications; however, it might delay their worsening.

Adolescent↗
PubMed2006

Helicobacter pylori-associated immune thrombocytopenia.

Idiopatic thrombocytopenic purpura (ITP), a disorder characterized by autoantibody-mediated platelet destruction, may be primary or secondary to various illnesses including lymphoproliferative, autoimmune, or infectious diseases. There are increasing data on the association between Helicobacter pylori infection and idiopathic thrombocytopenic purpura and the significant increase in platelet count after bacterial eradication. The aim of this review is to consider the studies so far published on Helicobacter pylori infection and idiopathic thrombocytopenic purpura in order to evaluate a possible pathogenic correlation between these two conditions. A review of the literature data show that Helicobacter pylori eradication in patients with idiopathic thrombocytopenic purpura is effective in increasing platelet count in approximately half of the cases. However, since the studies so far published are few, sometimes controversial and involve small series of patients, further controlled studies on larger numbers of patients with longer follow-up are needed to confirm these preliminary findings.

Anti-Bacterial Agents↗
PubMed2006

Thrombotic complications in von Willebrand disease.

Thrombotic events occur rarely in patients with von Willebrand disease (VWD). In this review we analyze the data reported in the literature, selected through a PubMed search, on thrombotic complications in VWD patients. On the basis of this analysis, we conclude that thrombotic complications in VWD patients often have a multi-factorial pathogenesis resulting from a complex interaction between acquired (coagulation factor replacement, surgery, cardiovascular risk factors) and/or inherited (thrombophilic gene mutations) prothrombotic risk factors.

Blood Coagulation Factors↗
PubMed2006

Acquired hemophilia A.

Acquired hemophilia A is a rare but severe autoimmune bleeding disorder, resulting from the presence of autoantibodies directed against clotting factor VIII. The etiology of the disorder remains obscure, although approximately half of all cases are associated with other underlying conditions. A prompt diagnosis and appropriate management enable effective control of this acquired hemorrhagic disorder: the aims of therapy are to terminate the acute bleeding episode and eliminate or reduce the inhibitor. The recent availability of bypassing agents, first activated prothrombin complex concentrates and then recombinant activated factor VII, has significantly reduced mortality during the acute phase of the disease in patients with high titer inhibitors. On another front, immunosuppressive therapy (corticosteroids and cytotoxic agents, alone or in various combinations) has resulted in long-term inhibitor suppression in up to 70% of the cases. Moreover, new therapeutic strategies (anti-CD20 monoclonal antibody and immune tolerance protocols) are very promising and may further improve the prognosis of acquired hemophilia A.

Autoimmune Diseases↗
PubMed2006

Advances in the diagnosis and management of von Willebrand disease.

von Willebrand disease (VWD), the most common inherited bleeding disorder, is caused by a quantitative (type 1 and 3) or qualitative (type 2) defect of von Willebrand factor (VWF). In this review, the present knowledge regarding the diagnosis and the management of VWD is briefly analyzed.

Antigens↗
PubMed2006

Inherited thrombophilia.

Inherited thrombophilia can be defined as a genetically determined predisposition to the development of thromboembolic complications. Since the discovery of activated protein C resistance in 1993, several additional disorders have been described and, at present, it is possible to identify an inherited predisposition in about 60 to 70% of patients with such complications. These inherited prothrombotic risk factors include qualitative or quantitative defects of coagulation factor inhibitors, increased levels or function of coagulation factors, defects of the fibrinolytic system, altered platelet function, and hyperhomocysteinemia. In this review, the main inherited prothrombotic risk factors are analyzed from epidemiological, laboratory, clinical, and therapeutic points of view. Finally, we discuss the synergism between genetic and acquired prothrombotic risk factors in particular conditions such as childhood and pregnancy.

Afibrinogenemia↗
PubMed2006

Biochemistry, physiology, and complications of blood doping: facts and speculation.

Competition is a natural part of human nature. Techniques and substances employed to enhance athletic performance and to achieve unfair success in sport have a long history, and there has been little knowledge or acceptance of potential harmful effects. Among doping practices, blood doping has become an integral part of endurance sport disciplines over the past decade. The definition of blood doping includes methods or substances administered for non-medical reasons to healthy athletes for improving aerobic performance. It includes all means aimed at producing an increased or more efficient mechanism of oxygen transport and delivery to peripheral tissues and muscles. The aim of this review is to discuss the biochemistry, physiology, and complications of blood doping and to provide an update on current antidoping policies.

Blood Substitutes↗
PubMed2006

Influence of warfarin therapy on activated factor VII clotting activity.

Oral anticoagulant therapy has been widely employed to prevent and treat a variety of thrombotic disorders, although a new generation of antithrombotic drugs, which offer inhibition of clot-bound as well as fluid-phase thrombin, has been developed and tested in several clinical trials. Although most anticoagulant responses to hydroxycoumarin compounds are well established, there are controversial evidences on their influence on activated factor VII (FVIIa). After analyzing the prothrombin time (PT) (International Normalized Ratio reference range, 0.92-1.08), factor VII clotting activity (FVII:C) (reference range, 75-130 U/dl) and activated factor VII clotting activity (FVIIa:C) (reference range, 30-110 U/l) in 46 consecutive patients on stable warfarin therapy for atrial fibrillation, a consistent trend towards decreased values of both FVII:C and FVIIa:C was observed as PT values increased. At moderate-intensity anticoagulation, with international normalized ratios between 2 and 3, the mean activities of FVII:C and FVIIa:C dropped to 28 U/dl (range, 9-61 U/dl) and 5.8 U/l (range, 1-18 U/l), respectively. Results of our investigations indicate that warfarin therapy decreases FVIIa:C, highlighting the potential benefits of oral anticoagulants in thrombotic disorders and other clinical conditions characterized by increased levels of FVIIa. Owing to the good correlation with FVIIa:C, we also hypothesize that the PT and/or FVII:C might be employed for monitoring recombinant FVIIa therapy.

Adult↗
PubMed2006

Quality and reliability of routine coagulation testing: can we trust that sample?

Poor standardization of preanalytic variables exerts a strong influence on the reliability of coagulation testing, consuming valuable health care resources and compromising patient outcome. Most uncertainties emerge from patient misidentification and the procedures for specimen collection and handling. Location of unsuitable venous access or problematic phlebotomies may produce spurious activation of the hemostatic system and hemolytic specimens. Prolonged venous stasis is associated with hemoconcentration and spurious variations of most coagulation assays. Additional pitfalls can be introduced by inappropriate phlebotomy tools and small-gauge needles. Inappropriate filling and mixing of the tube, unsuitable procedures for centrifugation and storage of the specimens are additional aspects that need accurate standardization. Besides traditional preanalytic variables affecting routine coagulation testing, thrombin-generation assays require specific criteria to be accurately fulfilled. These aspects include the type of specimen (platelet-poor plasma, platelet-rich plasma or whole blood), blood collection tubes, storage conditions and the presence of residual platelets. Compliance with new international quality assessment programs, which will also involve coagulation laboratories, encompasses the adoption of suitable strategies for reducing undue variability throughout the whole testing process. Such strategies would not entail extraordinary costs and are affordable with a structured outlay of existing resources, educational policies and compliance with reliable guidelines.

Blood Coagulation Tests↗
PubMed2006

The use of recombinant activated factor VII in congenital and acquired von Willebrand disease.

Recombinant activated factor VII (NovoSeven), a novel hemostatic agent originally developed for the treatment of bleeding episodes in hemophilia A or B patients with inhibitors, has been recently employed with benefit for the management of hemorrhages in other nonhemophilic congenital and acquired hemostatic abnormalities. This review focuses on the use of this drug in acquired and congenital von Willebrand disease. The analysis of the literature data shows that recombinant activated factor VII is an effective agent for the treatment of refractory bleeding in von Willebrand disease patients and for the treatment or prevention of bleeding in those patients with alloantibodies or autoantibodies against von Willebrand factor. Further studies are needed, however, to assess its safety and to optimize the dosages and regimens of therapy in such patients.

Factor VII↗
PubMed2006

Haemostasis and pregnancy.

Normal pregnancy is associated with profound alterations in the coagulation and fibrinolytic systems. While these physiological procoagulant changes are aimed to minimise intrapartum blood loss, they do increase the risk of thromboembolism during pregnancy and the post-partum period. In contrast and more rarely, haemorrhage due to an underlying inherited or acquired bleeding disorder may occur and complicate a pregnancy. Based on an analysis of the literature data, this review presents an overview of the main thrombotic and haemorrhagic disorders complicating pregnancy.

Anticoagulants↗
PubMed2006

Recombinant factor VIIa: a review on its clinical use.

Recombinant activated factor VII (rFVIIa) (NovoSeven) is a novel hemostatic agent originally developed to treat bleeding episodes in hemophilic patients with inhibitors against coagulation factors VIII and IX. In recent years, rFVIIa has also been employed for the management of uncontrolled bleeding in a number of congenital and acquired hemostatic abnormalities. Based on a literature search including PubMed, references from reviews, and abstracts from the most important meetings on this topic, this review examines the current knowledge on therapy with rFVIIa, from the now well-standardized uses to the newer and less well-characterized clinical applications.

Factor VII↗
PubMed2006

The antiphospholipid syndrome: an update.

Antiphospholipid syndrome is an autoimmune disorder defined by the association between antiphospholipid antibodies (i.e., lupus anticoagulant and anticardiolipin antibodies) and venous or arterial thrombosis or obstetric complications. In spite of the recent advances, many aspects of this disease remain unclear. Although the antigenic targets of this heterogeneous group of autoantibodies have been determined, being negatively charged phospholipids-binding proteins, their precise pathogenic mechanism is still being determined. The most important advances in the pathophysiology, diagnosis and treatment of this condition are discussed in this review.

Antibodies, Antiphospholipid↗
PubMed2006

Phlebotomy issues and quality improvement in results of laboratory testing.

Laboratory testing is an integral part of the decision-making process, and results of laboratory testing often strongly influence medical diagnoses and therapies. There is a long history of quality requirements in laboratory medicine, which have mainly concerned the analytic phase of this process. Owing to the substantial advances in technology, laboratory automation and analytic quality, there is increasing evidence that further quality improvements should be targeted to extra-analytic phases of laboratory testing. Objective difficulties to monitor most of the preanalytic variables which lie outside the direct control or supervision of the laboratory personnel, such as phlebotomy, call for effective educational and preventive policies. Owing to high personnel turnover rates, lack of understanding about good laboratory practices, and inadequate training, there are several opportunities for making errors during phlebotomy, which mainly concern patient misidentification and collection of unsuitable specimens for testing due to unsuited venous accesses, venous stasis, inappropriate collection devices and containers. Improved standardization of phlebotomy techniques, along with operative guidelines dissemination, continuous education, certification, and training of health care professionals involved in blood drawing responsibilities would enhance the chance of obtaining specimens of consistent quality, with favorable revenues for the health care system and the patient's outcome.

Bloodletting↗
PubMed2006

[Thyroid and hemostasis].

Several studies have reported hemostatic abnormalities, both in terms of bleeding or thrombosis, in patients with various thyroid dysfunctions. The aim of this paper is to briefly discuss the relationship between thyroid disorders and hemostasis (i.e., primary hemostasis, coagulation factors and fibrinolytic system). From the analysis of the more recent literature data, it is evident that most of the coagulation abnormalities, associated with thyroid disorders, are a consequence of a direct action of thyroid hormones on the synthesis of various hemostatic factors or a derangement of immune function. On the whole, these data suggest that a hypercoagulable state is present in hyperthyroid patients, while patients suffering from moderate hypothyroidism are at increased risk of thrombosis, contrasting with the bleeding tendency of those presenting severe hypothyroidism.

Blood Coagulation Disorders↗
PubMed2006

Inhibitors in mild/moderate haemophilia A: an update.

The development of inhibitors in patients with mild/moderate hemophilia A is an increasingly recognized occurrence and is manifested by the patients' bleeding pattern becoming more severe. Inherited (hemophilia genetic mutations) and acquired (type and delivery of factor VIII replacement therapy) factors have been associated with an increased likelihood of developing factor VIII inhibitors. Although the use of bypassing agents (i.e. activated prothrombin complex concentrates and recombinant factor VII activated) has been demonstrated to be effective in controlling bleeding episodes in patients who develop factor VIII inhibitors, the limited data available in the literature are insufficient to determine the optimal approach to the eradication of inhibitors (i.e. immune tolerance induction, immunosuppression or both) for this group. Particular attention should be directed to the prevention of this complication in those patients with mild/moderate hemophilia recognized to be at increased risk of developing a factor VIII inhibitor. In conclusion, large prospective trials are warranted in order to elucidate the many still unclear pathogenic and therapeutic aspects of the development of inhibitors in patients with mild/moderate hemophilia A.

Blood Coagulation Factors↗