Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 698
Filtrar
1.
Andes Pediatr ; 92(2): 219-225, 2021 Apr.
Artigo em Espanhol | MEDLINE | ID: mdl-34106160

RESUMO

INTRODUCTION: In Chile, hemophilia was incorporated into the System of Explicit Health Guarantees (GES), which ensures access to treatment and financial protection for these patients. To support patients and their families, educational programs have been proposed that focus on managing possible complications of the pathology, first aid, and prophylaxis, however, there are no educational instances focused on the needs of the patients. OBJECTIVE: To know the educational needs of parents with hemophilic chil dren and adolescents regarding contents, people, place, methodology, and stage of the illness. Sub jects and Method: Descriptive qualitative study of 15 parents with hemophilic children in outpatient care. For the data collection, we used a semi-structured interview with five open questions, aimed at the search for educational needs such as what (contents), how (methodology), when (moment), who (person), and where (place) is education needed. For data analysis, were used the Berelson's content analysis technique. To guarantee the scientific validity of the qualitative results, the methodological rigor criteria of Guba and Lincoln were used. RESULTS: The most frequent educational needs reported by parents include content such as venipuncture training, injury prevention, pathophysiological as pects of the disease, among others; with methodology developed in group workshops and guided by a peer; in a comfortable and familiar place; in three stages of the disease's development (diagnosis, blee ding events, and development of autonomous activities), and provided by professionals and peers. CONCLUSION: Knowledge of educational needs is the basis for the creation of an educational program that guides the comprehensive care of hemophilic children and their parents.


Assuntos
Assistência Integral à Saúde , Hemofilia A/terapia , Hemofilia B/terapia , Determinação de Necessidades de Cuidados de Saúde , Pais/educação , Adolescente , Assistência Ambulatorial , Criança , Chile , Feminino , Conhecimentos, Atitudes e Prática em Saúde , Hemofilia A/fisiopatologia , Hemofilia B/fisiopatologia , Hemorragia/prevenção & controle , Humanos , Masculino , Flebotomia , Pesquisa Qualitativa , Autocuidado , Ferimentos e Lesões/prevenção & controle
2.
Int J Hematol ; 113(6): 884-892, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33677769

RESUMO

Since the introduction of episodic and prophylactic treatments with safer factor concentrates, the life expectancy of people with haemophilia (PwH) has improved considerably. Ageing-related diseases such as cardiovascular disease (CVD) have also become more prevalent in PwH. This cross-sectional study aimed to evaluate CVD risk factors and estimate 10-year risk for CVD events among PwH. Male patients ≥ 30 years were interviewed and examined. Blood tests were performed at the local laboratory. Eighty-two patients were included, of whom 83% had haemophilia A and half had severe disease. Median age at study entry was 43.0 years (interquartile range [IQR], 36.0-51.3). Prevalence of obesity, systemic arterial hypertension (SAH) and diabetes mellitus were 16%, 60% and 16%, respectively. Hypertriglyceridaemia, hypercholesterolaemia and low HDL blood levels were present in 18%, 41% and 30% of patients, respectively. Metabolic syndrome was found in 37%. The Framingham Risk Score showed that 39% of PwH had a high risk of developing cardiovascular events in the following 10 years. We conclude that, in this cohort, PwH have a higher prevalence of SAH when compared with Brazilian men without haemophilia and about two-fifths have a high risk of developing a CVD event in the following 10 years.


Assuntos
Doenças Cardiovasculares , Hemofilia A , Adulto , Doenças Cardiovasculares/sangue , Doenças Cardiovasculares/epidemiologia , Doenças Cardiovasculares/etiologia , Doenças Cardiovasculares/fisiopatologia , Estudos Transversais , Feminino , Hemofilia A/sangue , Hemofilia A/complicações , Hemofilia A/epidemiologia , Hemofilia A/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Fatores de Risco
4.
Value Health ; 23(7): 862-869, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32762987

RESUMO

OBJECTIVE: To assess patient preferences for benefits and risks in hemophilia A treatment. METHODS: A systematic literature search and pretest interviews were conducted to determine the most patient-relevant endpoints in terms of effects, risks, and administration of hemophilia A treatments. A Best-Worst Scaling (BWS; Case 3 or multiprofile case) approach was applied in a structured questionnaire. Patients were surveyed by interviewers in a computer-assisted personal interview. Treatments in the choice scenarios comprised bleeding frequency per year, application type, risk of thromboembolic event risk, and inhibitor development. Each respondent answered 13 choice tasks, including 1 dominant task, comparing 3 treatment profiles. Data were analyzed using a mixed logit model (random-parameters logit). RESULTS: Data from 57 patients were used. The attributes "bleeding frequency per year" and "inhibitor development" had the greatest impact on respondents' choice decisions. Patients disliked being at risk of inhibitor development more than being at risk of thromboembolic events. The type of application, whether intravenous or subcutaneous, was of less importance for patients. There was a significant preference variation for all attributes. CONCLUSIONS: Patients value low frequency of bleeding per year and low risk of development of inhibitors the most. An increase of risk and frequency would significantly decrease the impact on choice decisions. The type of application does not seem to influence the choice decision very much compared with the other attributes. Regarding preference heterogeneity, further analysis is needed to identify subgroups among patients and their characteristics. This may help to adapt individually patient-tailored treatment alternatives for hemophilia A patients.


Assuntos
Comportamento de Escolha , Tomada de Decisões , Hemofilia A/terapia , Preferência do Paciente , Hemofilia A/fisiopatologia , Humanos , Inquéritos e Questionários , Tromboembolia/epidemiologia
5.
Haemophilia ; 26(4): 718-725, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32364278

RESUMO

INTRODUCTION: Historically persons with haemophilia (PWH) were not encouraged to participate in exercise due to the risk of bleeding and the lack of factor products available. This has now changed, and the availability of safe products allows PWH to be active and participate in sports. Studies have found that exercise has a positive effect on pain, joint health and movement with PWH. AIM: To record the amount and types of physical activity undertaken by a haemophilia population at a single treatment centre. METHODS: An observational cross-sectional study to assess physical activity and quality of life of all registered patients over the age of 18 at the Oxford Haemophilia and Thrombosis Centre. Participants were posted questionnaires including the International Physical activity Questionnaire (IPAQ), Haemophilia Activity List (HAL), EQ-5D-5L and asked to list their physical activities. RESULTS: A total of 256 questionnaires were sent, with a 40% response rate for severe and 28% for mild patients. 85% met the UK physical activity guidelines. Sedentary behaviour for an average weekday was 6.4 hours, and weekends were 5.3 hours. Joint disease and severity type influenced the amount of activity undertaken, together with values for HAL and EQ-5D-5L. Twenty two types of activities were listed. CONCLUSION: It is encouraging to see the amount of physical activity PWH participate in, however, time spent in a sedentary state needs monitoring. PWH want to be active and the challenge for caregivers is to find activities they can do and strategies to maintain participation.


Assuntos
Exercício Físico/fisiologia , Exercício Físico/psicologia , Hemofilia A/terapia , Hemorragia/prevenção & controle , Adulto , Idoso , Estudos Transversais , Hemofilia A/complicações , Hemofilia A/fisiopatologia , Hemorragia/etiologia , Humanos , Artropatias/complicações , Artropatias/diagnóstico , Artropatias/prevenção & controle , Masculino , Pessoa de Meia-Idade , Avaliação de Resultados em Cuidados de Saúde , Qualidade de Vida , Comportamento Sedentário , Índice de Gravidade de Doença , Inquéritos e Questionários/estatística & dados numéricos , Reino Unido/epidemiologia
6.
Haemophilia ; 26(4): 726-734, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32364326

RESUMO

INTRODUCTION: Patients with haemophilia (PwH) often prefer shod walking over barefoot walking as footwear offers ankle joint stability and comfort during gait. Yet, the biomechanical mechanisms contributing to the latter remain poorly understood. AIM: To explore the effect of shoes on the biomechanical functioning of the ankle and foot complex in PwH with and without haemophilic ankle arthropathy and to determine the amount of ankle joint loading during shod walking. METHODS: We analysed data of PwH without haemophilic ankle arthropathy (n = 5) and PwH with severe haemophilic ankle arthropathy (n = 17) and a control group (n = 17). During 3D gait analysis, a four-segment kinetic foot model was used to calculate kinematic and kinetic parameters of the ankle, Chopart, Lisfranc and first metatarsophalangeal (MTP 1) joints during both barefoot and shod walking. RESULTS: We found a significantly greater ankle joint power generation during shod walking compared to barefoot walking in PwH with severe haemophilic ankle arthropathy (P < .001). Chopart joint biomechanics were significantly lowered in all three groups during shod walking compared to barefoot walking. During shod walking, the ankle joint load was significantly lowered in both PwH groups (P = .039 and P = .002), but not in the control group (P = .952). CONCLUSION: Explorations in this study uncover a tendency that shoes alter the biomechanical functioning of the ankle and foot complex in PwH and simultaneously lower the ankle joint load during walking.


Assuntos
Fenômenos Biomecânicos/fisiologia , Hemofilia A/fisiopatologia , Artropatias/fisiopatologia , Sapatos/efeitos adversos , Caminhada/fisiologia , Adulto , Articulação do Tornozelo/diagnóstico por imagem , Articulação do Tornozelo/fisiopatologia , Estudos de Casos e Controles , Estudos Transversais , Articulações do Pé/diagnóstico por imagem , Articulações do Pé/fisiopatologia , Análise da Marcha/métodos , Hemofilia A/complicações , Humanos , Artropatias/diagnóstico por imagem , Artropatias/etiologia , Imageamento por Ressonância Magnética/métodos , Pessoa de Meia-Idade
7.
Medicine (Baltimore) ; 99(9): e19339, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-32118768

RESUMO

Ageing people with hemophilia (PWH) have a higher prevalence of hypertension than the general population. This study aimed to determine whether macroscopic hematuria was associated with hypertension in PWH in a post hoc analysis using data from a cross-sectional study conducted by the ADVANCE Working Group (the H3 study), which included PWH ≥ 40 years of age. Data from 16 contributing centers, located in 13 European countries and Israel, were analyzed using logistic regression models. Of 532 recruited PWH in the H3 study, 117 had hypertension and a positive family history of hypertension (hypertension FH+), 75 had hypertension and a negative family history of hypertension (hypertension FH-), 290 had no diagnosis of hypertension, and the remaining 50 had missing hypertension data. Logistic regressions showed that macroscopic hematuria was associated with hypertension FH+, both in the univariate (OR = 1.84 [1.17-2.90], P = .01) and in the multivariate model (OR = 1.80 [1.03-3.16], P = .04). Macroscopic hematuria was not associated with hypertension FH-. Moreover, in a multivariate logistic regression the odds of hypertension FH+ were increased with the number of macroscopic hematuria episodes. The association between macroscopic hematuria and hypertension was significant for PWH with a family history of hypertension.


Assuntos
Hematúria/etiologia , Hemofilia A/complicações , Hipertensão/complicações , Adulto , Idoso , Idoso de 80 Anos ou mais , Envelhecimento , Estudos Transversais , Feminino , Hematúria/epidemiologia , Hematúria/fisiopatologia , Hemofilia A/epidemiologia , Hemofilia A/fisiopatologia , Humanos , Hipertensão/epidemiologia , Hipertensão/fisiopatologia , Israel/epidemiologia , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Fatores de Risco
8.
Expert Opin Investig Drugs ; 29(3): 295-301, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32008381

RESUMO

Introduction: Hemophilia A and B are congenital bleeding disorders. The current standard management of patients with severe hemophilia is prophylaxis which is given intravenously two or three times weekly; however, this is associated with a significant burden on the quality of life of the patient. The main attempts to improve the management of hemophilia is hence through the development of a new generation of products with properties facilitating prophylaxis and/or a better control of bleeding.Areas covered: This review describes the preclinical and phase 1/2 studies investigating the innovative products for the management of hemophilia patients with or without coagulation factor inhibitors.Expert opinion: Numerous innovative therapeutics, including factor concentrates and non-clotting factor-based therapies with extended half-life, are under clinical investigation. Among replacement therapies for hemophilia A, the results from phase 1/2 studies indicate that the most interesting products are those bioengineered using XTEN fusion technology. The anti-tissue factor pathway inhibitor antibody concizumab is the most innovative and interesting agent among non-clotting factor products. If the results of ongoing trials confirm the preliminary positive results, these promising agents will provide further improvements in the management and quality of life of patients with hemophilia.


Assuntos
Anticorpos Monoclonais Humanizados/uso terapêutico , Hemofilia A/tratamento farmacológico , Animais , Anticorpos Monoclonais Humanizados/farmacologia , Desenvolvimento de Medicamentos , Drogas em Investigação/farmacocinética , Drogas em Investigação/farmacologia , Hemofilia A/fisiopatologia , Humanos , Qualidade de Vida , Índice de Gravidade de Doença
9.
Expert Opin Investig Drugs ; 29(3): 303-309, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31990229

RESUMO

Introduction: Primary prophylaxis with FVIII is the therapeutic regimen of choice in severe hemophilia A; it reduces joint bleeding and associated chronic damage and helps prevent fatal bleeds. However, the high frequency of intravenous injections is a significant challenge for the optimal implementation of prophylaxis, particularly in children and adolescents. Novel therapeutic approaches have been developed to overcome this challenge. FVIII products with an extended plasma half-life can reduce the number of intravenous injections in the frame of prophylaxis regimens and can yield higher trough plasma levels of FVIII. The goal is to avoid all spontaneous bleeding episodes (zero events).Areas covered: This article reviews the benefits offered by the currently licensed extended half-life products and examines limitations, unmet needs, and knowledge gaps.Expert opinion: FVIII replacement remains the standard of care in patients with hemophilia A; however, there have been advances in novel treatment approaches. Non-factor products such as emicizumab offer a promising alternative that warrants more real-life experience and a direct comparison with FVIII replacement.


Assuntos
Anticorpos Biespecíficos/uso terapêutico , Anticorpos Monoclonais Humanizados/uso terapêutico , Fator VIII/uso terapêutico , Hemofilia A/prevenção & controle , Adolescente , Animais , Criança , Meia-Vida , Hemofilia A/fisiopatologia , Humanos , Índice de Gravidade de Doença
10.
Acta Biotheor ; 68(1): 21-43, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31853681

RESUMO

Correct interpretation of the data from integral laboratory tests, including Thrombin Generation Test (TGT), requires biochemistry-based mathematical models of blood coagulation. The purpose of this study is to describe the experimental TGT data from healthy donors and hemophilia A (HA) and B (HB) patients. We derive a simplified ODE model and apply it to analyze the TGT data from healthy donors and HA/HB patients with in vitro added tissue factor pathway inhibitor (TFPI) antibody. This model allows the characterization of hemophilia patients in the space of three most important model parameters. The proposed approach may provide a new quantitative tool for the analysis of experimental TGT. Also, it gives a reduced model of coagulation verified against clinical data to be used in future theoretical large-scale modeling of thrombosis in flow.


Assuntos
Coagulação Sanguínea , Hemofilia A/fisiopatologia , Modelos Teóricos , Trombina/metabolismo , Características da Família , Hemofilia A/diagnóstico , Humanos , Kit de Reagentes para Diagnóstico
11.
Artigo em Inglês | MEDLINE | ID: mdl-33396748

RESUMO

There is a broad range of factor products approved in Germany for haemophilia A treatment. Since the introduction of recombinant coagulation factor VIII (FVIII) products in the 1990s, there has been substantial debate whether there is a difference in inhibitor incidence between single FVIII products or product classes. Neither haemophilia registries nor clinical studies, including a randomised controlled clinical trial, provided a consistent and definite answer. The reasons were mainly related to methodological challenges in conducting controlled studies in a rare disease. In this analysis, the most relevant epidemiological challenges and main problems were examined, including study bias, potential overlap of individual studies and advanced development of therapy and methods in the course of time. Meta-analyses on two levels showed that therapies using recombinant products resulted in different event rates when compared to plasma-derived products. These results are accompanied by substantial study heterogeneity evidenced by Cochran's Q tests. Only three studies have been identified that meet the standards of current clinical guidance. To finally resolve this ongoing and disputable safety issue of replacement therapy, collaboration among registry owners, academia and regulators must be fostered.


Assuntos
Hemofilia A , Alemanha/epidemiologia , Hemofilia A/tratamento farmacológico , Hemofilia A/epidemiologia , Hemofilia A/fisiopatologia , Humanos , Incidência , Doenças Raras/epidemiologia , Sistema de Registros/estatística & dados numéricos
12.
BMJ Open ; 9(12): e032891, 2019 12 02.
Artigo em Inglês | MEDLINE | ID: mdl-31796490

RESUMO

INTRODUCTION: Haemophilia A is an X linked inherited bleeding disorder, caused by a decrease in coagulation factor VIII. Persons with haemophilia experience repeated musculoskeletal bleeding, which can lead to decreased range of motion, irreversible joint damage, low bone mineral density (BMD), and are at greater risk for osteoporosis. Women heterozygous for this mutation, also known as haemophilia A carriers, can have bleeding symptoms and even experience joint bleeding evidenced by radiological soft tissue and osteochondral changes. The prevalence of low BMD as a risk factor for osteoporosis has never been evaluated in carriers of haemophilia, and given the recent findings which suggest subclinical musculoskeletal bleeding in carrier women, we hypothesise that they too are at risk of impaired bone health. METHODS AND ANALYSIS: This is a national multicentre prospective matched-cohort study to compare BMD T-scores among symptomatic haemophilia A carriers, 50 years of age or older, with age-matched and body mass index-matched non-carriers (1:1). A total of 40 symptomatic carriers and 40 matched non-carriers will be recruited from St. Michael's Hospital, Kingston General Hospital in Ontario, Canada and Foothills Medical Centre in Alberta, Canada. Multivariable linear regression models will be used to estimate the effect of haemophilia carriership on BMD T-scores, adjusting for age, body mass index and other relevant covariates. ETHICS AND DISSEMINATION: The protocol was designed and will be conducted in compliance with applicable laws, rules and regulations. Research ethics approval was obtained from St. Michael's Hospital, Foothills Medical Centre, and Kingston General Hospital. Findings will be presented at international venues such as the American Society of Haematology and the World Federation of Haemophilia World Congress. The authors of this study will seek publication in journals such as Blood, Journal of Thrombosis and Haemostasis, American Journal of Hematology and British Journal of Haematology.


Assuntos
Doenças Ósseas Metabólicas , Hemofilia A , Hemorragia , Osteoporose , Doenças Ósseas Metabólicas/diagnóstico , Doenças Ósseas Metabólicas/epidemiologia , Doenças Ósseas Metabólicas/etiologia , Estudos de Coortes , Fator VIII/genética , Feminino , Hemofilia A/diagnóstico , Hemofilia A/epidemiologia , Hemofilia A/genética , Hemofilia A/fisiopatologia , Hemorragia/complicações , Hemorragia/epidemiologia , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Osteoporose/diagnóstico , Osteoporose/epidemiologia , Osteoporose/etiologia , Projetos de Pesquisa , Medição de Risco/métodos , Fatores de Risco , Fatores Sexuais , Avaliação de Sintomas/métodos
13.
Rev Med Chil ; 147(5): 568-573, 2019 May.
Artigo em Espanhol | MEDLINE | ID: mdl-31859888

RESUMO

BACKGROUND: In patients with hemophilia, radionuclide synoviorthesis, or the intra-articular injection of a radionuclide to decrease the synovial hypertrophy tissue, aims to decrease or avoid hemarthrosis. AIM: To evaluate the effectiveness of radionuclide synoviorthesis in hemophilia. MATERIAL AND METHODS: Observational retrospective study of the evolution of 107 male patients aged 3 to 54 years who were subjected to radionuclide synoviorthesis between 2007 and 2015. RESULTS: Of 164 treated joints, in 65% treatment was successful, (defined as zero to two hemarthroses and absence of synovitis during the follow up period), in 17% it was partially successful (defined as two or less hemarthroses, but persistence of the synovitis) and failed in 18% of the procedures. No important complications were recorded. CONCLUSIONS: Radionuclide synoviorthesis has an overall 82% success rate, is minimally invasive, can be used at any age and is inexpensive We recommend its implementation in Chilean hemophilia treatment centers.


Assuntos
Hemartrose/terapia , Hemofilia A/terapia , Radioisótopos/administração & dosagem , Rênio/uso terapêutico , Sinovite/terapia , Radioisótopos de Ítrio/uso terapêutico , Adolescente , Adulto , Criança , Pré-Escolar , Hemartrose/diagnóstico por imagem , Hemartrose/fisiopatologia , Hemofilia A/fisiopatologia , Humanos , Injeções Intra-Articulares , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Estudos Retrospectivos , Sinovite/diagnóstico por imagem , Sinovite/fisiopatologia , Fatores de Tempo , Resultado do Tratamento , Adulto Jovem
14.
Haemophilia ; 25(6): 928-937, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31667968

RESUMO

INTRODUCTION: There is considerable evidence to indicate that exercise can have a positive impact on the treatment of people with haemophilia (PWH). However, there is a requirement for in-depth and comprehensive studies. AIM: This study aimed to analyse the evidence regarding the effects of exercise in PWH through an umbrella review of existing systematic reviews and meta-analyses. The secondary objective was to analyse the quality of the evidence. METHODS: This umbrella review followed the PRISMA guidelines and was documented in the PROSPERO registry (CRD42019140785). We searched the PubMed, Web of Science, SPORTDiscus, Scopus, CINAHL and Cochrane Library databases. The methodological quality of the systematic reviews was assessed using AMSTAR 2. RESULTS: Out of a total of 1030 systematic reviews, 10 fulfilled the criteria. Only one study was classified as high quality, and half of the selected studies were classified as low or critically low quality according to AMSTAR 2. Furthermore, most reviews investigated the effects of strength training and aquatic training, with positive results associated with low adverse events. Range of motion, strength and pain were the most investigated variables. All reviews showed overlapping studies. CONCLUSION: Exercise is an effective way to treat haemophilia and has a low incidence of related adverse events. However, caution is needed in the interpretation of the results due to half of the selected reviews showed low or critically low quality and only one have high quality.


Assuntos
Exercício Físico , Hemofilia A/fisiopatologia , Hemofilia B/fisiopatologia , Humanos
15.
Mol Genet Genomic Med ; 7(11): e979, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31566926

RESUMO

BACKGROUND: The pathophysiology of hemophilic arthropathy is complex and not completely understood. In this study, we aimed to identify biomarkers that can affect the hemophilic arthropathy severity. METHODS: Fifty patients were analyzed for biomarker frequencies; in 37 patients, articular symptoms were evaluated based on the physical joint examination score, and in 18, it was based on magnetic resonance imaging. Eight polymorphisms, namely FV 1691G>A, FII 20210G>A, MTHFR 677C>T and 1298A>C, TNFα-308G>A and -238G>A, ACAN VNTR, and IL1RN*2-VNTR were identified. RESULTS: Patients with the MTHFR 677TT genotype showed a higher number of affected joints (1.83 ± 0.9 vs. 0.55 ± 0.7 for CC; p = .023), whereas those with the MTHFR 1298AC genotype exhibited higher effusion according to two radiologists (0.90 ± 0.31/1.20 ± 0.63 vs. 0.38 ± 0.52/0.50 ± 0.53 for AA genotype; p = .043/0.036, respectively). In addition, patients with the TNFα-308GA genotype had more subchondral cysts (0.75 ± 0.95 vs. 0.07 ± 0.26 for GG genotype; p = .041). CONCLUSIONS: The distribution of risk genotypes for MTHFR and TNFα-308GA suggests their association with clinical parameters of hemophilic arthropathy. Cohort studies are essential to verify these associations.


Assuntos
Cartilagem/patologia , Marcadores Genéticos , Hemartrose/diagnóstico , Hemofilia A/fisiopatologia , Inflamação/diagnóstico , Adolescente , Cartilagem/metabolismo , Criança , Pré-Escolar , Feminino , Hemartrose/epidemiologia , Hemartrose/genética , Humanos , Incidência , Lactente , Recém-Nascido , Inflamação/epidemiologia , Inflamação/genética , Masculino , México/epidemiologia , Prognóstico
16.
Artigo em Inglês | MEDLINE | ID: mdl-31614706

RESUMO

Physical activity (PA) is highly beneficial for people with haemophilia (PWH), however, studies that objectively monitor the PA in this population are scarce. This study aimed to monitor the daily PA and analyse its evolution over time in a cohort of PWH using a commercial activity tracker. In addition, this work analyses the relationship between PA levels, demographics, and joint health status, as well as the acceptance and adherence to the activity tracker. Twenty-six PWH were asked to wear a Fitbit Charge HR for 13 weeks. According to the steps/day in the first week, data were divided into two groups: Active Group (AG; ≥10,000 steps/day) and Non-Active Group (NAG; <10,000 steps/day). Correlations between PA and patient characteristics were studied using the Pearson coefficient. Participants' user experience was analysed with a questionnaire. The 10,000 steps/day was reached by 57.7% of participants, with 12,603 (1525) and 7495 (1626) being the mean steps/day of the AG and NAG, respectively. In general, no significant variations (p > 0.05) in PA levels or adherence to wristband were produced. Only the correlation between very active minutes and arthropathy was significant (r = -0.40, p = 0.045). Results of the questionnaire showed a high level of satisfaction. In summary, PWH are able to comply with the PA recommendations, and the Fitbit wristband is a valid tool for a continuous and long-term monitoring of PA. However, by itself, the use of a wristband is not enough motivation to increase PA levels.


Assuntos
Exercício Físico , Monitores de Aptidão Física , Hemofilia A/fisiopatologia , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Monitorização Fisiológica/métodos , Motivação , Cooperação do Paciente , Inquéritos e Questionários
17.
Haemophilia ; 25(6): e353-e360, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31436002

RESUMO

INTRODUCTION: Patients with haemophilia are at increased risk of being overweight or obese, which in turn may have a profound effect on morbidity and quality of life. AIMS: To assess the nutritional status of paediatric patients with haemophilia and identify possible risk factors that may adversely affect their nutritional status. METHODS: A case-control study was performed on 63 haemophilia patients and 135 control subjects aged 5-18 years. For all participants, weight, height and body mass index Z (BMIZ) score were assessed. Physical activity (PA) was assessed using the International Physical Activity Questionnaire and the Children's Physical Activity Questionnaire for participants ≥15 years and 5-14 years old, respectively. RESULTS: The frequency of overweight and obesity was 36.29% among the control group compared with 23.81% among patients, while thinness was higher in patients with haemophilia (19.05%) compared with 9.63% in the control group, P = .042. Low PA was reported in 22.73% of haemophilia patients aged 5-14 years compared with 2.06% in the control group, P < .001. However, no difference in PA was reported among participants aged ≥15 years. There were no significant differences in the frequency of nutritional problems among patients with respect to age, type of haemophilia, disease severity and hepatitis C seropositivity. Regression analysis revealed a negative association between paternal educational level and high BMIZ in patients ≥15 years, P = .028. CONCLUSIONS: Paediatric patients seem to have lower BMIZ than the control group. In addition, most of the studied factors were not found to predict either high or low BMIZ among studied patients.


Assuntos
Hemofilia A/fisiopatologia , Hemofilia B/fisiopatologia , Estado Nutricional , Adolescente , Estudos de Casos e Controles , Criança , Feminino , Hemofilia A/epidemiologia , Hemofilia B/epidemiologia , Humanos , Iraque , Masculino , Qualidade de Vida , Fatores de Risco
18.
J Thromb Haemost ; 17(11): 1815-1826, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31301687

RESUMO

BACKGROUND: Vascular remodeling associated with hemophilic arthropathy (HA) may contribute to bleed propagation, but the mechanisms remain poorly understood. OBJECTIVES: To explore molecular mechanisms of HA and the effects of hemostasis correction on synovial vascular remodeling after joint injury in hypocoagulable mice. METHODS: Factor VIII (FVIII)-deficient mice +/- FVIII treatment and hypocoagulable wild-type mice (Hypo BALB/c) were subjected to subpatellar puncture. Hypo BALB/c mice were treated with warfarin and anti-FVIII before injury, after which warfarin was continued for 2 weeks or reversed +/- continuous anti-FVIII until harvest. Synovial vascularity was analyzed at baseline and 2 to 4 weeks post injury by histology, musculoskeletal ultrasound with power Doppler (microvascular flow), and Evans blue extravasation (vascular permeability). Synovial gene expression and systemic markers of vascular collagen turnover were studied in FVIII-deficient mice by RNA sequencing and enzyme-linked immunosorbent assay. RESULTS: Vascular changes occurred in FVIII-deficient and Hypo BALB/c mice after injury with minimal effect of hemostasis correction. Increased vascular permeability was only significant in FVIII-deficient mice, who exhibited more pronounced vascular remodeling than Hypo BALB/c mice despite similar bleed volumes. FVIII-deficient mice exhibited a strong transcriptional response in synovium that was only partially affected by FVIII treatment and involved genes relating to angiogenesis and extracellular matrix remodeling, with vascular collagen turnover markers detected systemically. CONCLUSIONS: Intact hemostasis at the time of hemarthrosis and during healing are both critical to prevent vascular remodeling, which appears worse with severe and prolonged FVIII deficiency. Unbiased RNA sequencing revealed potential targets for intervention and biomarker development to improve management of HA.


Assuntos
Permeabilidade Capilar , Fator VIII/metabolismo , Hemartrose/metabolismo , Hemofilia A/metabolismo , Membrana Sinovial/irrigação sanguínea , Remodelação Vascular , Animais , Permeabilidade Capilar/efeitos dos fármacos , Modelos Animais de Doenças , Fator VIII/administração & dosagem , Fator VIII/genética , Feminino , Hemartrose/genética , Hemartrose/fisiopatologia , Hemartrose/prevenção & controle , Hemofilia A/tratamento farmacológico , Hemofilia A/genética , Hemofilia A/fisiopatologia , Hemostasia , Hemostáticos/administração & dosagem , Masculino , Camundongos Endogâmicos BALB C , Camundongos Knockout , Fatores de Tempo , Remodelação Vascular/efeitos dos fármacos
20.
Rev Med Chil ; 147(3): 334-341, 2019 Mar.
Artigo em Espanhol | MEDLINE | ID: mdl-31344171

RESUMO

Acquired hemophilia A (AHA) is a rare and life-threatening autoimmune hemorrhagic disorder where autoantibodies are developed against factor VIII. An early diagnosis is challenging and mandatory: an immediate hemostatic control is required to reduce morbidity and mortality. Laboratory features of AHA are: presence of autoantibodies against factor VIII, prolonged activated partial thromboplastin time (with normal prothrombin time and thrombin time) and decreased factor VIII levels. In some cases, the results of laboratory tests may be incorrect due to errors in analysis, blood extraction or manipulation of samples; also worth of consideration are limitations in the measurement range and low sensitivity of the tests. This review highlights the importance of adequate screening in patients with suspected AHA to make an adequate diagnosis and reduce overall fatal outcomes.


Assuntos
Hemofilia A/diagnóstico , Autoanticorpos/sangue , Doenças Autoimunes/diagnóstico , Doenças Autoimunes/fisiopatologia , Testes de Coagulação Sanguínea , Diagnóstico Precoce , Fator VIII , Hemofilia A/fisiopatologia , Humanos , Tempo de Tromboplastina Parcial
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...