0000000000449939
AUTHOR
Giacomo Mancuso
showing 51 related works from this author
"Incidence of bleeding symptoms in 100 patients with inherited afibrinogenemia or hypofibrinogenemia."
2006
Congenital deficiency of plasma fibrinogen is a hereditary bleeding disorder with an autosomal recessive pattern of inheritance [1] and an estimated incidence of 1–2 per million in the general population [1]. Due to the rarity of the disorder, the available data on the incidence of bleeding episodes, prevalent clinical manifestations and treatment modalities are scarce [2-7]. Afibrinogenemia is sometimes associated with symptoms that are unusual in patients with defects of coagulation factors, such as thrombotic complications and miscarriages [8-12]. However, knowledge on the incidence and significance of these unusual symptoms is influenced by publication bias. Fresh frozen plasma, cryopre…
"A prospective randomized trial of high and standard dosages of recombinant factor VIIa for treatment of hemarthroses in hemophiliacs with inhibitors"
2006
"Sicilian haemophilia a and b registry comprising phenotypic and genotypic data"
2005
1."IG ANTI D E.V. NEI PAZIENTI PEDIATRICI CON PTA CRONICA REFRATTARI A IVIG E TERAPIA STEROIDEA"
2005
"Prevalence of owerweight and obesity in children form some school of Palermo"
2006
"Prevention of eating disorders(eds) in preadolescent girls form some schools of Palermo: self-esteem, body dissatisfaction and drive for thinness"
2006
A prospective randomized trial of high and standard dosages of recombinant factor VIIa for treatment of hemarthroses in hemophiliacs with inhibitors.
2006
Summary. Aim: A multicenter randomized open-label crossover prospective trial was designed to compare the efficacy, safety, and cost of standard and high dosages of recombinant factor VIIa (rFVIIa) for home treatment of hemarthroses in hemophiliacs with inhibitors. Methods: Patients were instructed to treat, within 6 h from the onset of bleeding, four consecutive hemarthroses of ankles, knees, or elbows, either with the rFVIIa standard dose of 90 μg kg−1 (repeated as necessary every 3 h) or with a single high dose of 270 μg kg−1. Patients who did not achieve a clinical success within 9 h continued rFVIIa treatment with repeated standard doses. Response to treatment was assessed for up to 48…
"A novel nonsense mutation in severe haemophilia B."
2006
"Trattamento con Fattore VIIA Ricombinante (rFVIIA) ad alte dosi in emofilici con inibitore: Studio randomizzato crossover."
2005
"Case Report: embolia polmonare in soggetto in età pediatrica con trombosi venosa profonda."
2005
Relationship between diet in the first year of life, social factors and body weight in preadolescent schoolchildren in Palermo
2006
Confronting the psychological burden of haemophilia
2010
Providing comprehensive care, counselling and support to haemophilic patients, and their parents have always been quite complex for haemophilia treatment centres. Nowadays, starting with recent developments in genetic counselling, prenatal diagnosis and carrier testing, the psychological burden on patients and parents might possibly have increased, compared with even the recent past. The emotional strains and worries associated with a possibly affected newborn and his care through childhood and adolescence may also have a grievous impact on couple dynamics and marital relationship. The impact may be even higher in families in which haemophilia is newly diagnosed. The main psychological prob…
L'AUTOINFUSIONE: ESPERIENZA DEL CENTRO REGIONALE DI RIFERIMENTO "EMOSTASI E TROMBOSI IN ETA' PEDIATRICA" NELL'OSPEDALE DEI BAMBINI DI PALERMO
2004
"Benefits of sport for a haemophilic patient"
2006
THERAPY AND QUALITY OF LIFE IN PATIENTS SUFFERING FROM HAEMOPHILIA B IN WESTERN SICILY
2004
Malformazione adenomatoide cistica del polmone e deficit di fattore VII. Profilassi chirurgica con fattore VII attivato.
2006
The Authors treat the problem of a patient suffering from Cystic Adenomatoid Malformation of the lung, to whom a deficiency of factor VII has been diagnosed, as a consequence of performed coagulatives examinations made before the surgical operation.
Nutritional counselling in overweight and obese children of some schools from Palermo.
2005
"Immunoglobuline anti-D (IG ANTI-D) in pazienti pediatrici con Porpora Trombocitopenica Idiopatica (ITP) Cronica, refrattari alla terapia con immunog…
2006
Gene symbol: f9.
2007
Ultrasound prognostic signs of Hemophilic Arthropathy.
2007
A novel two base pair deletion in the factor V gene associated with severe factor V deficiency
2001
We studied a family in which the proband, a 13-year-old boy, had unmeasurable plasma levels of coagulation factor V antigen and activity. Clinical symptoms were severe, with several episodes of haemorrhages in the mucosal tracts (gastrointestinal, nose and urinary) and recurrent haemarthroses that caused permanent arthropathy. Sequence analysis of the factor V gene demonstrated the presence of a novel 2 base pair (bp) homozygous deletion in exon 13 at positions 2833-2834. This mutation, present in the heterozygous state in the asymptomatic mother and absent in the healthy brother, introduced a frameshift and a premature stop at codon 900. This would predict the synthesis of a truncated fact…
1."IG Anti-D e.v. nei pazienti pediatrici con PTI Cronica refrattari a IVIg e Terapia Steroidea".
2005
"Protective effect of Human-Derived Protein C in Septic Neonatal Mice."
2005
Immune Tolerance Induction (ITI) with FVIII/VWF concentrate in Italian haemophiliacs with previous unsuccessful ITI and/or negative predictors of ITI…
2008
Una nuova mutazione nell’esone 4 del gene del FVIII causa un quadro di emofilia moderata.
2006
INTRODUZIONE. L’emofilia su scala mondiale rappresenta la più comune diatesi emorragica X linked. In Sicilia circa 140 famiglie sono soggette a tale condizione. Clinicamente l’emofilia è distinta in forma severa, moderata e lieve in base all’attività del fattore VIII (F8). La forma grave dell’emofilia A è caratterizzata dalla assenza di fattore VIII plasmatico e dall’attività del fattore VIII plasmatico < 1% ed è causata per il 50 % dalla inversione dell’introne 22 del gene del fattore VIII e per il 5% dalla inversione dell’introne 1. La restante parte di alterazioni genetiche riguarda numerose mutazioni puntiformi tipo missense, non-sense e frameshift. La forma moderata è dovuta più freque…
"Sicurezza, efficacia e impatto farmacoeconomico della profilassi con refacto in emofilici adulti: studio S.E.PH.I.RE"
2005
Clinical efficacy of highly purified, doubly virus-inactivated factor VIII/von Willebrand factor concentrate (Fanhdi® ) in the treatment of von Wille…
2002
Summary. The goal of therapy in patients with von Willebrand disease (vWD) is to correct the dual defect of primary haemostasis and intrinsic coagulation reflected by low levels of von Willebrand factor (vWF) and factor VIII coagulant activity (FVIII:C). Factor VIII/von Willebrand factor (FVIII/vWF) concentrates are currently the treatment of choice in vWD patients unresponsive to desmopressin (DDAVP). However, only few studies on their clinical use are available so far. The main objective of this study was to retrospectively evaluate the clinical efficacy of a highly purified, doubly virus-inactivated FVIII/vWF concentrate with a high content of FVIII/vWF (Fanhdi®). Twenty-two patients wit…
Efficacy and safety during formulation switch of a pasteurized VWF/FVIII concentrate: results from an Italian prospective observational study in pati…
2012
Summary Von Willebrand disease (VWD) is an inherited bleeding disorder caused by the quantitative or qualitative deficiency of von Willebrand factor (VWF). Replacement therapy with plasma-derived VWF/factor VIII (FVIII) concentrates is required in patients unresponsive to desmopressin. To assess the efficacy, safety and ease of use of a new, volume-reduced (VR) formulation of VWF/FVIII concentrate Haemate® P in patients requiring treatment for bleeding or prophylaxis for recurrent bleeding or for invasive procedures. Pharmacoeconomic variables were also recorded. Data were analysed using descriptive statistics. This was a multicentre, prospective, observational study. Consecutively enrolled…