Homocysteine, MTHFR C677T gene polymorphism, folic acid and vitamin B 12 in patients with retinal vein occlusion

BACKGROUND: Many available data have suggested that hyperhomocysteinaemia, an established independent risk factor for thrombosis (arterial and venous), may be associated with an increased risk of retinal vein occlusion (RVO). AIM OF THE STUDY: To evaluate homocysteine metabolism in consecutive caucasian patients affected by RVO from Northern Italy. PATIENTS AND METHODS: 69 consecutive patients from Northern Italy (mean age 64.1 ± 14.6 yy) with recent RVO, were tested for plasma levels of homocysteine (tHcy: fasting and after loading with methionine), cyanocobalamine and folic acid levels (CMIA-Abbot) and looking for MTHFR C677T mutation (Light Cycler-Roche) and compared to 50 volunteers, enrolled as a control group. RESULTS: Fasting levels of tHcy were significantly higher in patients than in controls: mean value 14.7 ± 7.7 vs 10.2 ± 8 nmol/ml. Post load levels were also significantly higher: mean value 42.7 ± 23.7 vs 30.4 ± 13.3 nmol/ml; Total homocysteine increase was also evaluated (i.e. Δ-tHcy) after methionine load and was also significantly higher in patients compared to control subjects: mean Δ-tHcy 27.8 ± 21.5 vs 21.0 ± 16 nmol/ml (normal value < 25 nmol/ml). Furthermore, patients affected by RVO show low folic acid and/or vitamin B12 levels, although differences with control group did not reach statistical significance. Heterozygous and homozygous MTHFR mutation were respectively in study group 46% and 29% vs control group 56% and 4%. CONCLUSION: our data confirm that hyperhomocysteinaemia is a risk factor for RVO, and also that TT genotype of MTHFR C677T is more frequently associated with RVO: if the mutation per se is a risk factor for RVO remains an open question to be confirmed because another study from US did not reveal this aspect. Hyperomocysteinemia is modifiable risk factor for thrombotic diseases. Therefore, a screening for tHcy plasma levels in patients with recent retinal vein occlusion could allow to identify patients who might benefit from supplementation with vitamins and normalization of homocysteine levels, in fasting and after methionine load

Is there a relationship between factor V Leiden and type 2 diabetes?

This is an Open Access article distributed under the terms of the Creative Commons Attribution Licens

Prevalence of Inherited Thrombophilia in Patients With Documented Stent Thrombosis

n/

Paediatric arterial ischaemic stroke and cerebral sinovenous thrombosis: First report from the Italian registry of pediatric thrombosis (R. I. T. I., Registro Italiano Trombosi Infantili)

reserved55noData from large case series of children with cerebral thrombotic events are pivotal to improve prevention, early recognition and treatment of these conditions. The Italian Registry of Pediatric Thrombosis (R. I. T. I.) was established in 2007 by a multidisciplinary team, aiming for a better understanding of neonatal and paediatric thrombotic events in Italy and providing a preliminary source of data for the future development of specific clinical trials and diagnostic-therapeutic protocols. We analysed data relative to the paediatric cerebral thrombotic events of the R. I. T. I. which occurred between January 2007 and June 2012. In the study period, 79 arterial ischaemic stroke (AIS) events (49 in males) and 91 cerebral sinovenous thrombosis (CSVT) events (65 in males) were enrolled in the R. I. T. I. Mean age at onset was 4.5 years in AIS, and 7.1 years in CSVT. Most common modes of presentation were hemiparesis, seizures and speech disturbances in AIS, and headache, seizures and lethargy in CSVT. Most common etiologies were underlying chronic diseases, vasculopathy and cardiopathy in AIS, and underlying chronic diseases and infection in CSVT. Time to diagnosis exceeded 24 hours in 46% AIS and 59% CSVT. Overall data from the Italian Registry are in substantial agreement with those from the literature, despite small differences. Among these, a longer time to diagnosis compared to other registries and case series poses the accent to the need of an earlier recognition of paediatric cerebrovascular events in Italy, in order to enable prompt and effective treatment strategies.mixedSuppiej A.; Gentilomo C.; Saracco P.; Sartori S.; Agostini M.; Bagna R.; Bassi B.; Giordano P.; Grassi M.; Guzzetta A.; Lasagni D.; Luciani M.; Molinari A.C.; Palmieri A.; Putti M.C.; Ramenghi L.A.; Rota L.L.; Sperli D.; Laverda A.M.; Simioni P.; Angriman M.; Aru A.B.; Barisone E.; Bartalena L.; Berta M.; Bertoni E.; Cancarini P.; Cavaliere E.; Celle M.E.; Cerbone A.M.; Cesaroni E.; Via L.D.; Dell'Oro M.G.; Di Rosa G.; Ferrari G.M.; Fiori S.; Gaffuri M.; Gallina M.R.; Gimmillaro A.; Grandone E.; Ladogana S.; Laforgia N.; La Piana R.; Maschio F.; Miniero R.; Nosadini M.; Panzeri D.; Petrucci A.; Piersigilli F.; Sala D.; Sangermani R.; Santoro N.; Tufano A.; Ventura G.; Vittorini R.Suppiej, A.; Gentilomo, C.; Saracco, P.; Sartori, S.; Agostini, M.; Bagna, R.; Bassi, B.; Giordano, P.; Grassi, M.; Guzzetta, A.; Lasagni, D.; Luciani, M.; Molinari, A. C.; Palmieri, A.; Putti, M. C.; Ramenghi, L. A.; Rota, L. L.; Sperli, D.; Laverda, A. M.; Simioni, P.; Angriman, M.; Aru, A. B.; Barisone, E.; Bartalena, L.; Berta, M.; Bertoni, E.; Cancarini, P.; Cavaliere, E.; Celle, M. E.; Cerbone, A. M.; Cesaroni, E.; Via, L. D.; Dell'Oro, M. G.; Di Rosa, G.; Ferrari, G. M.; Fiori, S.; Gaffuri, M.; Gallina, M. R.; Gimmillaro, A.; Grandone, E.; Ladogana, S.; Laforgia, N.; La Piana, R.; Maschio, F.; Miniero, R.; Nosadini, M.; Panzeri, D.; Petrucci, A.; Piersigilli, F.; Sala, D.; Sangermani, R.; Santoro, N.; Tufano, A.; Ventura, G.; Vittorini, R

Screening for Fabry disease in patients with ischaemic stroke at young age: the Italian Project on Stroke in Young Adults

reserved85nomixedPoli, L.; Zedde, Marialuisa; Zini, Andrea; Del Sette, Massimo; Lodigiani, Corrado; Spalloni, Alessandra; Di Lisi, Filomena; Toriello, Antonella; Piras, Valeria; Stilo, Cesare; Tomelleri, Giampaolo; Tancredi, Lucia; Paciaroni, Maurizio; Silvestrelli, Giorgio; Adami, Alessandro; Costa, P.; Morotti, A.; De Giuli, V.; Caria, F.; Gamba, Massimo; Malferrari, Giovanni; Simone, Anna Maria; Musolino, Rossella; Giorli, Elisa; Banfi, Elena; Marcheselli, Simona; Rasura, Maurizia; Pugliese, Nicola; Melis, Maurizio; Bovi, Paolo; Padovani, A.; Burlina, A.; Pezzini, A; Del Zotto, Elisabetta; Giossi, Alessia; Sessa, Maria; Gilberti, Nicola; Magoni, Mauro; Ferrazzi, Paola; Librè, Luca; Rota, Lidia Luciana; Patella, Rosalba; Calabrò, Rocco Salvatore; Bramanti, Placido; La Spina, Paolo; Finocchi, Cinzia; Balestrino, Maurizio; Bruno, Chiara; Massucco, Davide; Gandolfo, Carlo; Traverso, Elisabetta; Delodovici, Maria Luisa; Verrengia, Elena Pinuccia; Carimati, Federico; Bono, Giorgio; Dell'Acqua, Maria Luisa; Bigliardi, Guido; Vandelli, Laura; Nichelli, Paolo Frigio; Carletti, Monica; Cerrato, Paolo; Iacoviello, Licia; Di Castelnuovo, Augusto; de Gaetano, Giovanni; Grassi, Mario; Locatelli, Giampiero; Caso, Valeria; D'Amore, Cataldo; Agnelli, Giancarlo; Checcarelli, Nicoletta; Guidotti, Mario; Arnaboldi, Marco; Giacalone, Giacomo; Zanoli, Elisa; Cavallini, Anna; Persico, Alessandra; Micieli, Giuseppe; Chiti, Alberto; Orlandi, Giovanni; Marchi, Piernicola; Lanari, Alessia; Ciccone, Alfonso; Cucurachi, Laura; Bonifati, Marco Domenico; Marcello, NorinaPoli, L.; Zedde, Marialuisa; Zini, Andrea; Del Sette, Massimo; Lodigiani, Corrado; Spalloni, Alessandra; Di Lisi, Filomena; Toriello, Antonella; Piras, Valeria; Stilo, Cesare; Tomelleri, Giampaolo; Tancredi, Lucia; Paciaroni, Maurizio; Silvestrelli, Giorgio; Adami, Alessandro; Costa, P.; Morotti, A.; De Giuli, V.; Caria, F.; Gamba, Massimo; Malferrari, Giovanni; Simone, Anna Maria; Musolino, Rossella; Giorli, Elisa; Banfi, Elena; Marcheselli, Simona; Rasura, Maurizia; Pugliese, Nicola; Melis, Maurizio; Bovi, Paolo; Padovani, A.; Burlina, A.; Pezzini, A; Del Zotto, Elisabetta; Giossi, Alessia; Sessa, Maria; Gilberti, Nicola; Magoni, Mauro; Ferrazzi, Paola; Librè, Luca; Rota, Lidia Luciana; Patella, Rosalba; Calabrò, Rocco Salvatore; Bramanti, Placido; La Spina, Paolo; Finocchi, Cinzia; Balestrino, Maurizio; Bruno, Chiara; Massucco, Davide; Gandolfo, Carlo; Traverso, Elisabetta; Delodovici, Maria Luisa; Verrengia, Elena Pinuccia; Carimati, Federico; Bono, Giorgio; Dell'Acqua, Maria Luisa; Bigliardi, Guido; Vandelli, Laura; Nichelli, Paolo Frigio; Carletti, Monica; Cerrato, Paolo; Iacoviello, Licia; Di Castelnuovo, Augusto; de Gaetano, Giovanni; Grassi, Mario; Locatelli, Giampiero; Caso, Valeria; D'Amore, Cataldo; Agnelli, Giancarlo; Checcarelli, Nicoletta; Guidotti, Mario; Arnaboldi, Marco; Giacalone, Giacomo; Zanoli, Elisa; Cavallini, Anna; Persico, Alessandra; Micieli, Giuseppe; Chiti, Alberto; Orlandi, Giovanni; Marchi, Piernicola; Lanari, Alessia; Ciccone, Alfonso; Cucurachi, Laura; Bonifati, Marco Domenico; Marcello, Norin