Italian daily platelet transfusion practice for haematological patients undergoing high dose chemotherapy with or without stem cell transplantation: a survey by the GIMEMA Haemostasis and Thrombosis Working Party.

Background: Following high-dose chemotherapy/bone marrow transplantation, patients are routinely, prophylactically transfused with platelet concentrates (PC) if they have a platelet count ≤10×10/L or higher in the presence of risk factors for bleeding. However, whether such transfusions are necessary in clinically stable patients with no bleeding, or whether a therapeutic transfusion strategy could be sufficient and safe, is still debated.

Materials And Methods: The GIMEMA Haemostasis and Thrombosis Working Party sent a questionnaire to Italian haematology departments to survey several aspects of daily platelet transfusion practice, such as the cut-off platelet count for transfusion, the evaluation of refractoriness and the type of PC administered.

Flow cytometry CD4(+)CD26(-)CD38(+) lymphocyte subset in the microenvironment of Hodgkin lymphoma-affected lymph nodes.

Hodgkin lymphoma (HL) is traditionally diagnosed by the presence of neoplastic Hodgkin and Reed-Sternberg (HRS) cells found in minority within a typical inflammatory microenvironment. It is now recognized that the majority of these T CD4 cells are T regulatory (Treg) and play an important immunosuppressive role and contribute to tumour persistence. Flow cytometric immunophenotyping of lymphocytes was performed on lymph node samples over a 12-year period (2000-2012) to identify the Hodgkin-specific subset and potential biomarkers related to Treg cells.

High rate of spontaneous inhibitor clearance during the long term observation study of a single cohort of 524 haemophilia A patients not undergoing immunotolerance.

Background: The natural history of inhibitors in patients with haemophilia A not undergoing immune tolerance induction (ITI) is largely unknown. A recent randomized controlled trial suggests that the higher the FVIII dose used for ITI, the faster the clearance and the lower the rate of bleeding, without any difference in the rate of tolerance. We aimed at assessing the rate of spontaneous inhibitor clearance in a large cohort of patients not undergoing ITI.

Prenatal diagnosis of haemophilia B: the Italian experience.

This article describes prenatal diagnosis (PND) of haemophilia B (HB) within the framework of Italian haemophilia centres and genetics laboratories. The study details the experience from six haemophilia genetic centres (three in the North, one in the Centre and two in the South of Italy) and summarizes the different techniques used to perform PND of HB during the last 15 years. To date, the Italian HB database includes 373 characterized unrelated patients and their genetic information has permitted the identification of 274 carriers of childbearing age.

Fresh-frozen bone: case series of a new grafting material for sinus lift and immediate implants.

Statement Of The Problem: Although autologous bone is considered to be the gold standard grafting material, it needs to be harvested from patients, a process that can be off-putting and can lead to donor site morbidity. For this reason, homologous fresh-frozen bone (FFB) was used in the current study as an alternative graft material.

Purpose Of The Study: The aim of this study was to evaluate the effectiveness of FFB as a grafting material in complex maxillary sinus lift with immediate implant insertion.

Laparoscopic total mesorectal excision for rectal cancer: experience of a single center with a series of 174 patients.

Background: Laparoscopic total mesorectal excision for low rectal cancer is not considered a gold standard treatment due to the high conversion rate and the long operation time.

Methods: A retrospective review examined a surgical series of 174 laparoscopic low rectal resections involving total mesorectal excision (1995-2006), with particular reference to technical points as well as surgical and oncologic outcomes. Miles operations and partial mesorectal excisions were excluded.

Transecting the pancreas neck with electrothermal bipolar vessel sealer (LigaSure) in laparoscopic left pancreatectomy: case report.

Background: Pancreatic fistula after distal pancreatectomy remains an unsolved problem, ranging in frequency between 15% and 40%, regardless of whether the intervention is performed laparoscopically or by open surgery.

Methods: Herein, presenting the case of a 68-year-old woman with a functioning insulinoma submitted to laparoscopic spleen preserving distal pancreatectomy, we propose a new technique of pancreatic transection by the LigaSure system, which seals vessels and other tubular structures by reforming parietal collagen and elastin.

Results: The patient had a favorable outcome.

Abdominal localization of Tangier disease mimicking a pancreatic neoplasm.

Tangier disease is a rare genetic disorder of lipid metabolism, characterized by severe deficiency of plasma high-density lipoprotein cholesterol, low-plasma total cholesterol, and accumulation of cholesteryl ester in macrophages. Abdominal manifestation of Tangier disease is extremely rare, being reported only once in the English literature. We describe a 55-year-old patient with this condition, who underwent splenectomy 37 years before, because of splenomegaly with thrombocytopenia, and subsequently presented with abdominal pain and pancreatic mass, simulating a pancreatic tumor.

Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A.

To provide a National database, 1,410 unrelated hemophilia A (HA) patients were investigated using screening methods denaturing high-performance liquid chromatography (DHPLC), conformational-sensitive gel electrophoresis (CSGE)] and/or direct sequencing. F8 gene mutations were identified in 877 (81%), 146 (82%), and 133 (89%) families with severe, moderate, or mild HA, respectively. Among the 382 different mutations detected, 217 (57%) have not previously been reported in the F8 Haemophilia A Mutation, Structure, Test and Resource Site (HAMSTeRS) database.

In vitro reactivity of factor VIII inhibitors with von Willebrand factor in different commercial factor VIII concentrates.

A relevant aspect in the treatment of patients with hemophilia A (HA) presenting inhibitor against factor VIII (FVIII) is the different antigenicity of FVIII used for replacement therapy. The aim of the study was to assess the effect of different products, with variable von Willebrand factor (vWF) concentration, in preventing the binding of inhibitor to FVIII. The reactivity of inhibitors from plasma of 18 patients with HA versus three commercial concentrates containing different amounts of vWF was compared.

Molecular genotyping of the Italian cohort of patients with hemophilia B.

Background And Objectives: The aim of the study, funded by the Italian Ministry of Health, was to identify the causative mutation in all known patients with hemophilia B in Italy.

Design And Methods: Overall, 269 patients followed by 25 regional centers were considered in the study; after exclusion of the related individuals, 238 unrelated patients were analyzed (153 with severe, 59 with moderate and 26 with mild hemophilia B). Screening of the factor IX gene was performed using conformation sensitive gel electrophoresis (CSGE) followed by denaturing high performance liquid chromatography (dHPLC) or direct sequencing in negative cases, or by dHPLC/sequencing (36 cases).

Hepatitis C virus quasispecies in the natural course of HCV-related disease in patients with haemophilia.

Patients with haemophilia show high prevalence of hepatitis C infection but low rate of progressive liver disease when they are not co-infected with HIV. The balance between host immune system and hepatitis C virus (HCV) variability seems to play a major role in the evolution of the HCV-related disease. To address this point we have studied, in a group of selected patients with haemophilia, the composition and in some cases the evolution, of the highest variable envelope gene within the hypervariable region 1 (HVR1) of the HCV, which is the region more directly exposed to the host immune response.

Concurrent total hip and knee replacements in a patient with haemophilia with inhibitors using recombinant factor VIIa by continuous infusion.

The introduction of activated recombinant factor VIIa (rFVIIa) has allowed elective surgery to be safely performed in haemophiliacs with inhibitors. The main problems associated with its use are the short half-life, necessitating frequent intravenous injections, and its very high cost. Here we describe, for the first time, the performance of total hip and knee replacements in a haemophiliac with inhibitors at the same operation.

Intra-articular rifamycin in haemophilic arthropathy.

Synoviorthesis is the intra-articular injection of chemical or radioactive substances able to produce fibrosis of hypertrophied synovium, which has proved effective in the treatment of chronic haemophilic synovitis. Between September 1999 and October 2001 we treated 28 outpatients (25 with haemophilia A, three with haemophilia B). Our treatment was focused on pain and functional limitation of joints.

Large FVIII gene deletion confers very high risk of inhibitor development in three related severe haemophiliacs.

Haemophilia A displays a broad heterogeneity of genetic defects and of clinical severity. Inhibitor development is the main complication of replacement therapy in severe cases and most patients with inhibitors have gross gene rearrangement or point mutations, which hamper the production of normal circulating factor VIII (FVIII). We have investigated three related severe haemophilia A patients, all of whom have high titre inhibitors.

Clinical and duplex ultrasound follow-up after balloon angioplasty for atherosclerotic renal artery stenosis.

The purpose of this study was to investigate changes in blood pressure and renal function after percutaneous renal artery balloon angioplasty in hypertensive patients with atherosclerotic renal artery stenosis. Renal artery lesions were assessed by duplex ultrasound before and after renal artery balloon angioplasty. Renal arteries were classified as normal, < 60% stenosis, > or =60% stenosis, and occluded according to previously validated duplex criteria.

Recombinant FVIIa (NovoSeven) continuous infusion and total hip replacement in patients with haemophilia and high titre of inhibitors to FVIII: experience of two cases.

In this report we describe our experience of total hip replacement in two patients with severe haemophilia A and high titres of inhibitors to FVIII. We used rFVIIa replacement therapy by continuous infusion to perform the surgery. The total amount of rFVIIa used in these two patients was very similar but the manner of administration was quite different.

Experience of a single Italian center in genetic counseling for hemophilia: from linkage analysis to molecular diagnosis.

Background And Objective: We describe our three year experience in genetic counseling at the Castelfranco Veneto Hemophilia Center, Italy.

Design And Methods: A total of 258 individuals were involved in the study of 142 females. These formed 40 families with hemophilia A and 6 families with hemophilia B.

Safety and efficacy of high-purity concentrates in haemophiliac patients undergoing surgery by continuous infusion.

In this study we explore the feasibility of high-purity double-inactivated concentrates by continuous infusion for the treatment of haemophiliacs in a group of patients undergoing different surgical procedures. The patients were enrolled in the study on the basis of their transfusion history, which was well known due to their long-term follow up at our Haemophilia Center. We did not perform a pre-operative pharmacokinetic study because one of the aims of this study was to demonstrate that continuous infusion can become a first choice standard treatment in patients with haemophilia.

Myocardial perfusion, glucose utilization and oxidative metabolism in a patient with left bundle branch block, prior myocardial infarction and diabetes.

A diabetic patient affected by insulin-dependent diabetes, significant stenosis of left anterior descending (LAD) coronary, thrombolyzed myocardial infarction and complete left bundle branch block (LBBB) was examined by PET. Myocardial perfusion, glucose utilization and oxidative metabolism were evaluated by 13N-ammonia, 18F-fluorodeoxyglucose (FDG) and 11C-acetate, respectively. Despite severe damage in 18F-FDG uptake in the septum, with a septum-to-lateral ratio (S/L R) equal to 0.

Predictor of the rate of CD4 lymphocyte loss in HIV-1-seropositive asymptomatic hemophiliacs by in vitro immunoglobulin synthesis.

The objective of the present study was to evaluate the prognostic utility in determining the risk of AIDS progression in HIV-1-infected asymptomatic hemophiliacs by in vitro immunoglobulin (Ig) synthesis. With this aim, a cohort of 28 HIV-1-seropositive hemophiliacs were studied. All showed the number of CD4 lymphocytes higher than 400 positive cells/mm3.

Hepatitis C virus genotypes and severity of chronic liver disease in haemophiliacs.

We studied the activity and stage of chronic liver disease in 45 HCV-seropositive/HIV-seronegative patients with severe haemophilia followed for at least 10 years. HCV-RNA was detected in serum in 36 patients (80%) Viraemic cases were further analysed for HCV genotypes: 10 (28%) were infected by type 1a, 10 (28%) by type 1b, seven (19%) by type 2, four (11%) by type 3, four (11%) had mixed infections (one by 1a + 1b, one by 1a + 2, one by type 2 + 3, and one by 1a + 2 + 3). ALT levels were within the normal range in 55% of the HCV-RNA negative patients but in only 11% of the viraemic cases.