Search results for "AEM"
showing 10 items of 1006 documents
Primary HBB gene mutation severity and long-term outcomes in a global cohort of β-thalassaemia
2021
In β-thalassaemia, the severity of inherited β-globin gene mutations determines the severity of the clinical phenotype at presentation and subsequent transfusion requirements. However, data on associated long-term outcomes remain limited. We analysed data from 2109 β-thalassaemia patients with available genotypes in a global database. Genotype severity was grouped as β0 /β0 , β0 /β+ , β+ /β+ , β0 /β++ , β+ /β++ , and β++ /β++ . Patients were followed from birth until death or loss to follow-up. The median follow-up time was 34·1 years. Mortality and multiple morbidity outcomes were analyzed through five different stratification models of genotype severity groups. Interestingly, β0 and β+ mu…
Predictive value of venous thromboembolism (VTE)-BLEED to predict major bleeding and other adverse events in a practice-based cohort of patients with…
2018
Summary Venous thromboembolism (VTE)‐BLEED, a decision tool for predicting major bleeding during chronic anticoagulation for VTE has not yet been validated in practice‐based conditions. We calculated the prognostic indices of VTE‐BLEED for major bleeding after day 30 and day 90, as well as for recurrent VTE and all‐cause mortality, in 4457 patients enrolled in the international, prospective XALIA study. The median at‐risk time was 190 days (interquartile range 106–360). The crude hazard ratio (HR) for major bleeding after day 30 was 2·6 [95% confidence interval (CI) 1·3–5·2] and the treatment‐adjusted HR was 2·3 (95% CI 1·1–4·5) for VTE‐BLEED high (versus low) risk patients: the correspondi…
Efficacy and safety of lomitapide in familial chylomicronaemia syndrome
2022
Familial chylomicronaemia syndrome (FCS) is a rare autosomal recessive disorder, resulting in elevated triglycerides (TGs), abdominal pain and pancreatitis. Treatment options are limited. Lomitapide, a microsomal triglyceride transfer protein inhibitor, is approved for the treatment of homozygous familial hypercholesterolaemia. Whether its therapeutic use may be extended to FCS remains unknown. The aim of this study was to evaluate the efficacy and safety of lomitapide in adult patients with FCS.The open-label, single-arm 'LOCHNES' study of lomitapide in FCS enrolled patients18 years with genetically confirmed FCS, elevated fasting TG ≥ 750 mg/dL and history of pancreatitis. Patients were a…
Gynecological Manifestations, Histopathological Findings, and Schistosoma-Specific Polymerase Chain Reaction Results Among Women With Schistosoma hae…
2015
Schistosoma haematobium may cause pathology in the urinary and genital tracts. In the urinary tract, morbidity is correlated with intensity of infection, as indicated by the number of eggs excreted in the urine [1]. Up to 75% of women excreting S. haematobium ova in the urine may have ova in the lower genital tract. However, female genital schistosomiasis (FGS) may also occur in the absence of urinary egg excretion [2, 3]. FGS is rarely seen without use of a colposcope and is often overlooked even by those who have this tool. In remote areas, where most patients live, the cost of the equipment, the logistical difficulties associated with light sources, electricity, and clean instruments, as…
Intratumoral Haemorrhage Causing an Unusual Clinical Presentation of a Vestibular Schwannoma
2012
We present a case of an elderly woman with no history of audiological disease with sudden onset of visual and hearing deficits associated with systemic clinical signs. On examination she had impairment of right CNs from V to X. CT and MR imaging demonstrated a cystic vestibular schwannoma with a rare intralesional fluid-fluid level correlated to a recent bleed. We include high quality MR images to show the acute impairment of the cranial nerves next to the tumour after acute bleeding. Our case report includes a voxel-based morphometry (VMB) analysis of the tumour that, as far as we know, has never been done before for such a tumour. VBM analysis was performed to calculate the hypothesized …
Results of an orthopaedic survey in young patients with severe haemophilia in Spain
2002
Summary. This paper outlines the results obtained in a cross-sectional study of a group of young patients with severe haemophilia A and B. The primary aim of the study was to ascertain the level of orthopaedic complications in the group, the effects that these complications have on quality of life, and the medical resources used on these patients. The secondary aim was to relate their current orthopaedic state to the type of treatment received before the study. The study was carried out in 11 hospitals in Spain, where 70 severe haemophilia patients (factor VIII [FVIII] < 2%), with an average age of 21.6 and a median age of 22, and no inhibitors, were monitored. The percentage of patients s…
Regulation of immunomodulatory functions by granulocyte-macrophage colony-stimulating factor and granulocyte colony-stimulating factor in vivo
1996
The present study was designed to investigate in vivo immunomodulatory properties of hematopoietic growth factors. The influence on the activation of cytokine synthesis and on the expression of surface antigens associated with cellular activation of G-CSF or GM-CSF was investigated in cancer patients receiving these factors. One single dose of growth factor was administered to patients with bladder cancer (G-CSF group) or small cell lung cancer (GM-CSF group) before chemotherapy. After cytoreductive chemotherapy patients received supportive therapy with G-CSF or GM-CSF. Peripheral blood mononuclear cells and plasma samples were obtained for flow cytometry, Northern blot analysis, and assess…
Cancers in Patients with von Willebrand Disease: A Survey from the Italian Association of Haemophilia Centres
2015
Besides its essential role in hemostasis, there is growing evidence that von Willebrand factor (VWF) has an additional antitumor effect. To elucidate the clinical significance of this biological activity we conducted a retrospective study on cancers among Italian patients with von Willebrand disease (VWD) on behalf of the Italian Association of Haemophilia Centres (AICE). A questionnaire to collect demographic, clinical, and treatment data of VWD patients with cancer was sent to all the 54 Italian Haemophilia Treatment Centres (HTCs) members of AICE. Overall, 18 HTCs (33%) provided information on 92 VWD patients (61 alive and 31 deceased) with 106 cancers collected during the period 1981 to…
Safety and Effectiveness of Progressive Moderate-to-Vigorous Intensity Elastic Resistance Training on Physical Function and Pain in People With Hemop…
2020
Abstract Objective Strength training is recommended for people with hemophilia; however, published data are anecdotal and have methodological limitations. The purpose of this study was to evaluate the safety and effectiveness of progressive moderate-to-vigorous intensity elastic resistance training on physical function and pain in this patient population. Methods A randomized controlled trial was conducted in a university laboratory setting where 20 patients (17 with severe, 1 with moderate, and 2 with mild hemophilia) aged 21 to 53 years received evaluations at baseline and 8-week follow-up. Participants were allocated to intervention (progressive strength training) or control (usual daily…
Force fluctuations during the Maximum Isometric Voluntary Contraction of the quadriceps femoris in haemophilic patients
2007
In the general population, the degenerative processes in joints are directly related to adult age, and osteoarthrosis represents the most frequent musculoskeletal alteration. In the haemophilic patient, the degenerative processes in the joint begin at very early ages, and are directly related to musculoskeletal bleeding episodes, which are occasionally subclinical and constitute haemophilic arthropathy. In the haemophilic patient, arthropathy constitutes the most frequent, severe and disabling pathology, and its assessment includes muscular force-related parameters. We have studied the value of Maximum Isometric Voluntary Contraction in the quadriceps femoris of 46 subjects, 28 haemophiliac…