Lavori scientifici

Spazio dedicato alla produzione scientifica più recente effettuata dal personale del Centro.

2007

Role of hyperhomocystinemia in retinal vascular occlusive disease. NEW !

Sottilotta G, Oriana V, Latella C, Luise F, Piromalli A, Ramirez F, Mammì C, Occhiuto A, Trapani Lombardo VT

Pubblicato da Clinical and Applied Thrombosis Hemostasis 2007 Jan;13(1):104-7)             MEDLINE

Abtract Elevated plasma homocysteine (Hcy) level is considered a risk factor for vascular diseases. In recent years, many scientific reports have suggested that hyperhomocystinemia may be associated with an increased risk of retinal vascular occlusive disease (RVOD). The prevalence of elevation of homocysteine in patients with a recent retinal vascular occlusion was compared to a health control group in this study. Forty-nine consecutive patients (22 M; 27 F) (age 26-85 years, mean 69) with diagnosis of retinal vascular occlusion were compared with 71 healthy controls. These patients underwent laboratory evaluation for plasma fasting total homocysteine, activated protein C resistance, protein C, protein S, antithrombin III, and antiphospholipid and anticardiolipin antibodies. The G20210 prothrombin gene mutation (FII G20210A) and Factor V Leiden mutation (FVL) were evaluated. None of these enrolled subjects had other prothrombic risk factors. The health control group consisted of healthy subjects from the general population, with no history or clinical evidence of retinal vascular disease, recruited during the same 2-year period. High fasting homocystinemia (higher than 15 mumol/L) was detected in 24/49 subjects (48.9%) (P < .0005). There was a high prevalence of hyperhomocystinemia: these data suggest an association between RVOD and high fasting homocystinemia. Elevated homocysteine may be an independent risk factor, and its assessment may be important in the investigation, management, and follow-up of patients with RVOD. Further controlled studies are necessary to clarify the exact role of hyperhomocystinemia in RVOD and to evaluate the appropriate therapeutic approach.

2006

  Prevalence of genetic prothrombotic risk factors: analysis of 2170 consecutive cases

Oriana V, Sottilotta G, Piromalli A, Visalli A, Luise F, Meliadò CM, Cuzzola F, Latella C

Pubblicato da HAEMATOLOGICA 2006;91(s2), 66

      The Factor V Leiden (FVL) and the G20210 prothrombin gene mutations (FII G20210A) are well-established risk factors for venous thromboembolism. There are geographic differences in the prevalence of these mutations: in Italy are 2.0 and 3.0 percent, for FVL and F II G20210A, respectively. The aim of our study was to evaluate the prevalence of these genetic prothrombotic mutations in 2170 patients with history of venous or arterial thrombosis, or women with unexplained recurrent spontaneous abortions or other obstetric complications, and in healthy subjects with familial history of thrombotic disorders for women candidates to oral contraception. Methods.We screened for genetic thrombophilia 2170 consecutive subjects (Males: 733 Females: 1437) between January 2002 and December 2005. Results and Conclusion. FVL and FII G20210 mutations were found in 407/2170 (18.7%) patients (M:138 F:269) with a median age of 42 years (2-82): 199 with vascular disorders (107 with a history of venous thrombosis or pulmonary embolism, 7 with myocardial infarction, 29 with cerebral vascular disease, 21 with venous cerebral thrombosis, 21 with miscarriages or other unexplained obstetric complications, 14 with history of peripheral arterial occlusion) and 208 healthy women or asymptomatic relatives of patients with vascular disorders. In the group of 2170 patients: 226 (10.4%) were carriers of FVL (217 heterozygotes and 9 homozygotes) and 211 (9.7%) were carriers of FII G20210A (201 heterozygotes and 10 homozygotes). 16 had both mutations. 199 (48.9%) patients with at least one genetic prothrombotic defect showed thrombotic disorders. Our study confirms the importance of genetic thrombophilia screening. We also found an increased prevalence of these defects in comparison with the prevalence reported in the literature: if the selection of patients could partially explains this observation, it's our opinion that further and larger prevalence study could verify important geographic differences between Italian regions.
 

  PRE-ECLAMPSIA IN A WOMAN WITH MULTIPLE GENETIC THROMBOPHILIC MUTATIONS
 

Trapani Lombardo V, Oriana V, Sottilotta G, Ramirez F, Cuzzola F, Meliadò CM

Pubblicato da HAEMATOLOGICA 2006;91(s2), 66

      We report the case of a 25 year old woman, primipara, previously healthy, admitted at 29th week of gestation with headache, abdominal pain, hypertension (>160/100 mmHg on four occasions before admission) proteinuria (> 3g/L in a 24-hour sample). One week prior to admission she also presented peripheral edema, headache and oliguria. Ultrasonographic examination showed no placental abruption or fetal growth restriction. The coagulation and other laboratory parameters were normal. She was initiated on nifedipine and furosemide for control of blood pressure and intravenous albumin. An emergency cesarean section was performed four days after delivery because a decreased umbilical artery flow. The patient gave birth to a healthy baby and became normotensive after birth. The examinations for thrombophilia showed: heterozygosis for the prothrombin G20210A mutation, homozygosis for the plasminogen activator inhibitor (PAI-1) 4G/4G and heterozygosis for the - 455G/A b-fibrinogen gene polymorphism. Two years later she had her second pregnancy. The woman had been in good general health. She received prophylactic administration of Nadroparin 5700 IU s.c. daily, from 10 weeks gestation until the post-partum. Blood pressure, coagulation parameters, liver and renal function were normal during this pregnancy. A caesarian section was performed at 38th week and the child was healthy. Pre-eclampsia is defined as blood pressure greater than 140/90 mmHg on at least two occasions in women normotensive and proteinuria: the etiologic mechanisms are still unknown. Some studies supported the association with hereditary thrombophilia because the development of chronic intravascular coagulation. Several genetic mutations could be associated with pre-eclampsia and other pregnancy complications. In our experience, the patient developed pre-eclampsia during her first pregnancy, but her second pregnancy was uncomplicated after prophylactic administration of Nadroparin. It could suggest that not only Factor V Leiden and Prothrombin G20210A but also other genetic mutations should be investigated as risk factors for pre-eclampsia.

  INCREASED PREVALENCE OF THE FACTOR V LEIDEN MUTATION IN SOUTHERN ITALIAN BLOOD DONORS
 

Sottilotta G, Visalli A, Furlò G, Messina G, Mammì C, Laganà C,Trapani Lombardo V

Pubblicato da HAEMATOLOGICA 2006;91(s2), 66

      The Factor V Leiden (FVL) and the G20210 prothrombin mutations (FIIG20210A) are genetic risk factors for thromboembolism. Geographic differences in the prevalence of these mutations have been identified: FVL is more prevalent in the north (7%) than in south of Europe (3%), whereas FIIG20210A is more common in southern (3-7%) than in northern Europe (2-5%). In Italy the prevalence reported is 2.0 and 3.0 percent, for FVL and FIIG20210A, respectively. The increased prevalence of genetic thrombophilia observed in these years in our patients with thromboembolism (FVL: 10.4%; FIIG20210A: 9.7%), suggested us to assess if these disorders could be more frequent in healthy calabrian population than in the rest of Italy. We investigated 183 unselected blood donors (males: 117, females: 66; median age: 43 years). All donors were caucasian, recruited in the province of Reggio Calabria, in health and without history of vascular disease: we found a FVL prevalence of 6,1% (11/183). The prevalence of FIIG20210A was 3.2% (6/183). We observed an increase of FVL, but not of FIIG20210, in comparison with data reported about prevalence of prothrombotic defects in Italy. Our result seems as high as observed in several reports about FVL prevalence in Greece and Middle East. The European distribution of FVL is according to the hypothesis of a single origin of the mutation appeared in Middle East during the Neolithic Age and spread towards the North Europe with the farmers migrations; some authors are analysing another model of FVL diffusion in the Mediterranean area consequently to the Phoenicians colonizations. We think that it could be a possible reason of high prevalence reported in our study about southern Italian healthy individuals. If confirmed, the evidence of differences between Italian regions should lead to further studies for the geographic risk identification and for evaluation of the correct prophylaxis treatment.

RECOMBINANT ACTIVATED FACTOR VII COMBINED WITH DESMOPRESSIN IN PREVENTING BLEEDING FROM DENTAL EXTRACTION IN A PATIENT WITH GLANZMANN THROMBASTHENIA
 

Trapani Lombardo V, Sottilotta G

Pubblicato da Clinical and Applied Thrombosis Hemostasis 2006 Jan;12(1):115-6           MEDLINE

The case of a 41-year-old woman with Glanzmann's thrombasthenia who underwent double dental extraction is presented. In the past, treatments with desmopressin (DDAVP) and tranexamic acid had often unsuccessful efficacy to stop or decrease bleeding. After ineffective DDAVP administration, the removal was performed successfully with recombinant activated factor VII (rFVIIa) infusion. rFVIIa infusion after DDAVP administration could be useful in patients with Glanzmann's thrombasthenia in which DDAVP and tranexamic acid weren't always effective.

GENETIC PROTHROMBOTIC RISK FACTORS IN WOMEN WITH UNEXPLAINED PREGNANCY LOSS     MEDLINE

 Sottilotta G, Oriana V, Latella C, Luise F, Piromalli A, Ramirez F, Mammi C, Santoro R, Iannaccaro P, Muleo G, Trapani Lombardo V.

Pubblicato da Thrombosis Research 2006;117(6):681-4

INTRODUCTION: Inherited thrombophilia has been associated with unexplained recurrent pregnancy loss (RPL) and stillbirth. This thrombotic tendency can manifest as thrombotic lesions in the placenta, and may lead to abortion and stillbirth. The aim of our case-control study was to investigate the prevalence of FVL and FII G20210A in women with adverse pregnancy outcome, compared to the prevalence of the same mutations in our health control group. MATERIALS AND METHODS: 102 consecutive women with unexplained pregnancy loss (55 with history of RPL, and 47 with history of stillbirth) were studied for hereditary thrombophilia. The health control group consisted of 217 healthy women from the general population. RESULTS AND CONCLUSIONS: Of the 55 women with recurrent abortions, we found the same prevalence for the FVL and the FII G20210A(9.1%, 5 pts). (p=NS compared to control group). Of the 47 women with stillbirth, 11 (23.4%) had the FVL and 9 (19.1%) had the FII G20210A(p<0.0005 for both mutations). In our experience the prevalence of FVL and the FII G20210Amutations was significantly higher in women with unexplained stillbirth, instead the prevalence of genetic thrombophilia was high but not statistically significant in women with recurrent pregnancy loss.

2004

Ruolo dell'omocisteina nei pazienti con malattia vascolare retinica di tipo occlusivo

Autori: Oriana V., Latella C., Luise F., Piromalli A.,Sottilotta G., Trapani Lombardo V.

Poster presentato al Congresso Nazionale SISET 2004- Roma 30/9-3/10 2004

2003

Fisiopatologia dell'emostasi e fattori di rischio trombotico.

Trapani Lombardo V., Sottilotta G.

Corso di Aggiornamento "Malattia tromboembolica" - Polistena (RC) 24 maggio 2003

La terapia anticoagulante orale.

Oriana V., Sottilotta G.

Corso di Aggiornamento "Malattia tromboembolica" - Polistena (RC) 24 maggio 2003

2002

Intervento di chirurgia ortopedica in soggetto con emofilia con inibitore.

Trapani Lombardo V., Sottilotta G.

Emostasi Oggi - N. 4/2002 - ARTICOLO

Thrombocytopenia in patients receiving oral anticoagulant therapy.

Sottilotta G, Oriana V, Latella C, Trapani Lombardo V.

Clinical and Applied Thrombosis and Hemostasis - Luglio 2002

Abstract : The aim of this report was to determine the frequency of thrombocytopenia in a cohort of 1,126 patients receiving oral anticoagulant therapy (OAT), and to compare the grade of thrombocytopenia and the severity of bleeding complications. Severe thrombocytopenia was observed in five patients, and moderate and light thrombocytopenia were observed in 208 patients. Thrombocytopenic patients receiving OAT presented five major and six minor hemorrhages. The presence of hepatitis markers and autoantibodies was assessed. All parameters at the time of the bleeding complication were. 

  Hyperhomocysteinemia and venous thromboembolic disease

Iannaccaro P°, Santoro R°, Luise F*, Piromalli A*, Papaleo G°, Sottilotta G*, Trapani Lombardo V*, Muleo G°

°Centro Emofilia - Azienda Ospedaliera "Pugliese Ciaccio" - Catanzaro; * Centro Emofilia - Azienda Ospedaliera "Bianchi-Melacrino-Morelli" Reggio Calabria

XVII Congresso Nazionale SISET - Roma 9-12 Maggio 2002

  G-CSF and cytoaferesis effects on hemostasis inCD34+ cells donors

 Luise F*, Piromalli A*, Sottilotta G*, Morabito F°, Iacopino P°,Trapani Lombardo V*

* Centro Emofilia - °Centro Trapianti Midollo - Azienda Ospedaliera "Bianchi-Melacrino-Morelli"- Reggio Calabria

XVII Congresso Nazionale SISET - Roma 9-12 Maggio 2002

  Oral anticoagulant therapy and thrombocytopenia

 Sottilotta G,  Oriana V, Latella C, Musitano P, Trapani Lombardo V

Centro Emofilia - Azienda Ospedaliera "Bianchi-Melacrino-Morelli"- Reggio Calabria

XVII Congresso Nazionale SISET - Roma 9-12 Maggio 2002

Per ulteriori informazioni, contattare:
Centro Emofilia - Tel: 0965-397436 - Fax: 0965-397620
Webmaster: Dr. Gianluca Sottilotta (e-mail: giasotti@tin.it)

Ultimo aggiornamento: 01 febbraio 2007