Abstract:
:Therapy for hemophilia has evolved in the last 40 years from plasma-based concentrates to recombinant proteins and, more recently, to non-factor therapeutics. Along this same timeline, research in adeno-associated viral (AAV) based gene therapy vectors has provided the framework for early phase clinical trials initially for hemophilia B (HB) and now for hemophilia A. Successive lessons learned from early HB trials have paved the way for current advanced phase trials. Nevertheless, questions linger regarding 1) the optimal balance of vector dose to transgene expression, 2) amount and durability of transgene expression required, and 3) long-term safety. Some trials have demonstrated unique findings not seen previously regarding transient elevation of liver enzymes, immunogenicity of the vector capsid, and loss of transgene expression. This review will provide an update on the clinical AAV gene therapy trials in hemophilia and address the questions above. A thoughtful and rationally approached expansion of gene therapy to the clinics would certainly be a welcome addition to the arsenal of options for hemophilia therapy. Further, the global impact of gene therapy could be vastly improved by expanding eligibility to different patient populations and to developing nations. With the advances made to date, it is possible to envision a shift from the early goal of simply increasing life expectancy to a significant improvement in quality of life by reduction in spontaneous bleeding episodes and disease complications.
journal_name
Mediterr J Hematol Infect Disauthors
Arruda VR,Doshi BSdoi
10.4084/MJHID.2020.069subject
Has Abstractpub_date
2020-09-01 00:00:00pages
e2020069issue
1issn
2035-3006pii
mjhid-12-1-e2020069journal_volume
12pub_type
杂志文章,评审abstract::Nebulized colistin (NC) is used for the treatment of pneumonia due to multidrug- resistant Gram-negative bacteria. In this one-year case-control study, our objective was to evaluate the effect of NC on the ventilator circuit (VC) components. The case group consisted of 25 mechanically-ventilated patients who received ...
journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章
doi:10.4084/MJHID.2015.032
更新日期:2015-04-20 00:00:00
abstract::Acquired aplastic anemia (aAA) is a severe and rare disease, characterized by hematopoietic bone marrow failure and peripheral cytopenia. The pathophysiology is immune mediated in most cases, activated T1 lymphocytes have been identified as effector cells. The disease can be successfully treated with combined immunosu...
journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章
doi:10.4084/MJHID.2009.026
更新日期:2009-12-26 00:00:00
abstract:Objective:This study focused on the efficacy and safety of thalidomide for patients with β-thalassemia in a multicenter trial. Methods:Patients with non-transfusion-dependent thalassemia (NTDT) or transfusion-dependent thalassemia (TDT), who were unable to pursue conventional therapy with transfusion and chelation, we...
journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章
doi:10.4084/MJHID.2020.021
更新日期:2020-05-01 00:00:00
abstract::In the last 15 years, highly active antiretroviral therapy (HAART) has determined a dramatic reduction of both morbidity and mortality in human immunodeficiency virus (HIV)-infected subjects, transforming this infection in a chronic and manageable disease. Patients surviving with HIV in the developed world, in larger ...
journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章
doi:10.4084/MJHID.2010.034
更新日期:2010-01-01 00:00:00
abstract::We describe the case of a 17- year old female who developed fatal haemophagocytic syndrome (HPS) one month following acute infection caused by Epstein-Barr virus (EBV). Despite initiation of treatment and reduction of EBV load, laboratory signs of HPS as severe cytopenia, hypofibrinogenemia, hyperferritinemia and hype...
journal_title:Mediterranean journal of hematology and infectious diseases
pub_type:
doi:10.4084/MJHID.2012.008
更新日期:2012-01-01 00:00:00
abstract::HIV-associated PBL is an AIDS-defining cancer, classified by WHO as a distinct entity of aggressive DLBCL. To date less than 250 cases have been published, of them 17 are pediatric. The pathogenesis of this rare disease is related to immunodeficiency, chronic immune stimulation and EBV. Clinically is a rapid growing d...
journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章,评审
doi:10.4084/MJHID.2014.064
更新日期:2014-11-01 00:00:00
abstract:BACKGROUND:Homozygous or double heterozygous factor XIII (FXIII) deficiency is characterized by soft tissue hematomas, intracranial and delayed spontaneous bleeding. Alterations of thromboelastography (TEG) parameters in these patients have been reported. The aim of the study was to show results of TEG, TEG Lysis (Lys ...
journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章
doi:10.4084/MJHID.2016.037
更新日期:2016-08-16 00:00:00
abstract::Adherence to imatinib(IM) is of utmost importance in patients with chronic myeloid leukemia (CML) to maximise treatment effectiveness. The main objective is to measure adherence to IM by evaluating individual patient characteristics, personal behaviour and, treatment related psychological factors influencing adherence...
journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章
doi:10.4084/MJHID.2015.013
更新日期:2015-02-20 00:00:00
abstract::Patients infected with human immunodeficiency virus (HIV) are at increased risk for developing both non-Hodgkin's lymphoma (NHL) and Hodgkin's lymphoma (HL). Even if this risk has decreased for NHL after the introduction of combination antiretroviral therapy (cART), they remain the most common acquired immune deficien...
journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章,评审
doi:10.4084/MJHID.2019.004
更新日期:2019-01-01 00:00:00
abstract::We describe the entire process leading to the start-up of a hematopoietic stem cell transplantation center at the Hiwa Cancer Hospital, in the city of Sulaymaniyah, Kurdistan Iraqi Region. This capacity building project was funded by the Italian Development Cooperation Agency and implemented with the support of the vo...
journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章
doi:10.4084/MJHID.2017.031
更新日期:2017-04-15 00:00:00
abstract::Sickle cell disease (SCD) and ß-thalassemia represent the most common hemoglobinopathies caused, respectively, by the alteration of structural features or deficient production of the ß-chain of the Hb molecule. Other hemoglobinopathies are characterized by different mutations in the α- or ß-globin genes and are associ...
journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章
doi:10.4084/MJHID.2009.008
更新日期:2009-11-13 00:00:00
abstract::Hemophagocytic Lymphohistiocytosis (HLH) is an indicator of an exaggerated immune response and eventually adverse outcomes. This study aimed to investigate the clinical and laboratory features and outcomes of patients with HLH. The medical records of 26 HLH adult patients (≥ 16 years of age) were retrospectively analy...
journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章
doi:10.4084/MJHID.2018.047
更新日期:2018-09-01 00:00:00
abstract:OBJECTIVES:Low-dose cytarabine (LD-AraC) is still regarded as the standard of care in elderly patients with acute myeloid leukemia (AML) 'unfit' for intensive chemotherapy. In this study, we reported our experience with LD-AraC in patients ≥ 70 years old and compared the results to those of intensive chemotherapy, best...
journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章
doi:10.4084/MJHID.2016.009
更新日期:2016-01-01 00:00:00
abstract::A 71 year old female with multiple myeloma presented with back pain seven year after autologous stem cell transplant. Skeletal bone survey and magnetic resonance imaging did not show a relapse that was evidenced by CT/PET. Lenalidomide as single agent induced a complete disappearance of the lesions 6 months later and ...
journal_title:Mediterranean journal of hematology and infectious diseases
pub_type:
doi:10.4084/MJHID.2012.041
更新日期:2012-01-01 00:00:00
abstract:Background:The distribution of human parvovirus B19 (HPV B19) infection is ubiquitous and occurs worldwide. The virus has high tropism to red blood cells progenitor's cells leading to temporary infection of bone marrow and transient arrest of erythropoiesis. People with frequent episodes of hemolytic anemia including s...
journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章
doi:10.4084/MJHID.2019.054
更新日期:2019-09-01 00:00:00
abstract:INTRODUCTION:Bone marrow aspiration and biopsy still remains as one of the vital tests for confirmation of diagnosis of visceral Leishmaniasis. The aim of the present study is to assess the relative frequency of common, uncommon and atypical hematological findings in cases of Visceral Leishmaniasis. MATERIALS #ENTITYS...
journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章
doi:10.4084/MJHID.2011.035
更新日期:2011-01-01 00:00:00
abstract::In Primary Myelofibrosis (PMF), megakaryocyte dysplasia/hyperplasia determines the release of inflammatory cytokines that, in turn, stimulate stromal cells and induce bone marrow fibrosis. The pathogenic mechanism and the cells responsible for progression to bone marrow fibrosis in PMF are not completely understood. T...
journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章,评审
doi:10.4084/MJHID.2018.068
更新日期:2018-11-01 00:00:00
abstract:Background:Foetal haemoglobin (HbF) is a major modifying factor influencing sickle cell disease (SCD) severity. Despite this, HbF estimation is not routinely done in Nigeria. The relationship between HbF and SCD severity among affected children is also poorly studied. Methods:In this descriptive cross-sectional study,...
journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章
doi:10.4084/MJHID.2017.063
更新日期:2017-11-01 00:00:00
abstract:Background:Alpha Thalassemia (α-thal) is a heterogeneous group of hereditary alterations caused by deletions that affect alpha regulatory genes, and the 3.7Kb deletion is the most frequent worldwide. The prevalence ranges from 20% and 35% in Brazil, depending mainly on race, predominant in Afro-descendants. Purpose:Th...
journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章
doi:10.4084/MJHID.2021.001
更新日期:2021-01-01 00:00:00
abstract::The transition of patients with ≥20% <30% bone marrow (BM) blast from the FAB category of myelodysplasia to the family of acute myeloid leukemia (AML) according to the recent WHO classification has not resolved the argument as to whether the natural history and responsiveness to therapy of these diseases is comparable...
journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章
doi:10.4084/MJHID.2013.032
更新日期:2013-06-03 00:00:00
abstract::Acute promyelocytic leukemia (APL) is highly curable with the combination of all-transretinoic acid (ATRA) and anthracycline based chemotherapy, but the percentage of early deaths remains high. In the present study, we report the clinical, immunophenotypic, cytogenetic and molecular characteristics and outcome of APL ...
journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章
doi:10.4084/MJHID.2011.053
更新日期:2011-01-01 00:00:00
abstract::Sickle cell disease (SCD) is an extremely heterogeneous disease that has been associated with global morbidity and early mortality. More effective and inexpensive therapies are needed. During the last five years, the landscape of the pharmacotherapy of SCD has changed dramatically. Currently, 54 drugs have been used o...
journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章,评审
doi:10.4084/MJHID.2020.010
更新日期:2020-01-01 00:00:00
abstract::Allogeneic hematopoietic cell transplantation (HCT) is the only curative treatment for patients with myelodysplastic syndromes (MDS). Most patients with MDS are older than 60 years and age-associated morbidities limit the patients' options for curative transplant therapy. Since the development of conditioning regimens...
journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章
doi:10.4084/MJHID.2010.019
更新日期:2010-08-05 00:00:00
abstract::Sitagliptin, a modern antidiabetic agent which is weight neutral and associated with low rate of hypoglycaemias, is being increasingly used in type 2 diabetes mellitus (DM). However, there is a paucity of data about its efficacy and safety in beta-thalassaemia major (β-TM). This retrospective case series of five patie...
journal_title:Mediterranean journal of hematology and infectious diseases
pub_type:
doi:10.4084/MJHID.2017.004
更新日期:2017-01-01 00:00:00
abstract::The clinical presentation of β-thalassemia intermedia phenotypes are influenced by many factors. The persistence of fetal hemoglobin and several polymorphisms located in the promoters of γ- and β-globin genes are some of them. The aim of this study was to evaluate the combined effect of the -158 Gγ (C→T) polymorphism ...
journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章
doi:10.4084/MJHID.2013.012
更新日期:2013-01-01 00:00:00
abstract:INTRODUCTION:IGF-1 deficiency in TM patients in children and adolescents has been attributed to chronic anemia and hypoxia, chronic liver disease, iron overload and other associated endocrinopathies, e.g. growth hormone deficiency (GHD). Few data are available in the literature regarding adult TM patients and growth di...
journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章
doi:10.4084/MJHID.2014.074
更新日期:2014-11-01 00:00:00
abstract:Introduction:The aim of the study was to enumerate the clinical, hematological, and molecular spectrum of G6PD deficiency in malaria endemic regions of south west Odisha. Methods:Diagnosis of G6PD deficiency was made by using the Di-chloroindophenol Dye test in two south west districts (Kalahandi and Rayagada) of Odis...
journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章
doi:10.4084/MJHID.2020.015
更新日期:2020-03-01 00:00:00
abstract::Tenofovir is widely used as first-line treatment of HIV infection, although its use is sometimes complicated by a reversible proximal renal tubulopathy.We report the case of a 45-year-old woman with chronic HIV infection and personality disorder, who after 12 months of tenofovir, complained of fatigue, diffuse bone pa...
journal_title:Mediterranean journal of hematology and infectious diseases
pub_type:
doi:10.4084/MJHID.2012.025
更新日期:2012-01-01 00:00:00
abstract::The inherited disorders of hemoglobin are by far the commonest monogenic diseases and there is considerable evidence that they have reached their very high frequencies due to heterozygote advantage against malaria. Recent studies have begun to clarify the effect of interactions between malaria and some of the more sev...
journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章
doi:10.4084/MJHID.2009.022
更新日期:2009-12-20 00:00:00
abstract::Echinococcosis is an endemic zoonosis in the Mediterranean area, with Albania interested actually to a level that is becoming a public health concern. Authors describe preliminary data from the only tertiary (university) medical facility of Albania, positioned in the capital of the country (Tirana), with 333 new cases...
journal_title:Mediterranean journal of hematology and infectious diseases
pub_type: 杂志文章
doi:10.4084/MJHID.2014.013
更新日期:2014-02-16 00:00:00