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1.
Cult. cuid ; 28(68): 201-214, Abr 10, 2024. tab
Artigo em Espanhol | IBECS | ID: ibc-232323

RESUMO

Este artículo tiene como objetivo elaborar una reflexión haciaaquellos elementos que actuaron como recursos espirituales enel proceso de formación de San Juan de Dios como enfermeroy elaborar una serie de aportaciones actuales para reforzar elsentido de coherencia de las enfermeras post pandemia. Seutilizó la metodología historiográfica aplicada a historia de laenfermería para la reconstrucción de la memoria profesional,tomando como referencia y ejemplo la figura de San Juan deDios y se recogieron los elementos siguiendo la herramientade valoración espiritual FICA. Los textos muestran a Juan deDios con un sentido de coherencia interna que se hizo posiblea través de los recursos psico-espirituales de la época. Éstosfacilitaron encontrar y desarrollar la vocación propia y lamotivación para desarrollarla y alcanzar la autorrealización.La propuesta es contemplar en la profesionalización enfermeraun cuidado por paraklesis, que implica presencia personal,actitud dialogal y palabra sapiencial, luminosa y alentadorasiguiendo el modelo de San Juan de Dios, y su relación conel modelo de valoración espiritual FICA.(AU)


This article aims to elaborate a reflection on the elementsthat were spiritual resources during the formation of SaintJohn of God as a nurse.It is also to elaborate a series of current contributions to reinforcethe nurses’sense of coherence within post-pandemic context.The historiographical methodology applied to nursing history was used for the reconstruction of professional memory, takingthe figure of Saint John of God as a reference and example.Thetexts show John of God with a sense of internal coherence.It was possible through the psycho-spiritual resources of thetime. These made it easier for him to find and develop hisown vocation and the motivation to develop it and achieveself-realization. Our proposal is to contemplate in nursingprofessionalization a care for paraklesis, which impliespersonal presence, dialogical attitude and wise, luminousand encouraging word following the model of Saint John ofGod and it relationship with FICA evaluation Model.(AU)


Este artigo tem como objetivo elaborar uma reflexão sobre oselementos que atuaram como recursos espirituais no processode formação de São João de Deus como enfermeiro e elaboraruma série de contribuições atuais para reforçar o sentidode coerência das enfermeiras pós-pandemia. Foi utilizada ametodologia historiográfica aplicada à história da enfermagempara a reconstrução da memória profissional, tendo comoreferência e exemplo a figura de São João de Deus, e oselementos foram coletados seguindo a ferramenta de avaliaçãoespiritual FICA. Os textos mostram São João de Deus comum sentido de coerência interna que se tornou possível pormeio dos recursos psico-espirituais da época. Estes facilitaramencontrar e desenvolver a vocação própria, bem como amotivação para desenvolvê-la e alcançar a autorrealização. Aproposta é contemplar na profissionalização da enfermeiraum cuidado por paraklesis, que implica presença pessoal,atitude dialógica e palavra sapiencial, luminosa e encorajadora,seguindo o modelo de São João de Deus e sua relação como modelo de avaliação espiritual FICA.(AU)


Assuntos
Humanos , Masculino , Espiritualidade , Enfermagem , História da Enfermagem , Historiografia , Senso de Coerência
2.
Psychiatry Res ; 333: 115721, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38245977

RESUMO

Population pharmacokinetic (popPK) models constitute a valuable tool for characterizing the pharmacokinetic properties of once-monthly long-acting injectable aripiprazole (LAI aripiprazole) and quantifying the sources of variability in drug exposure. Our aim is to develop a popPK model of both aripiprazole and its metabolite dehydro-aripiprazole in patients treated with LAI aripiprazole, and to personalize the dosing regimen of aripiprazole across different sub-groups of patients. This is a prospective study investigating the pharmacokinetics of LAI aripiprazole. A total of 93 patients were included, 21 for model development and 71 for external model evaluation. A one-compartment model with linear absorption and elimination adequately described both aripiprazole and dehydro-aripiprazole concentrations. The weight of the patients has been shown to be the factor that most influences the absorption. However, the metabolizing phenotype for CYP2D6 and the concomitant treatment with strong inhibitors of this cytochrome have been shown to be the covariates that most influence total drug exposure. This is the first popPK model developed for LAI aripiprazole that includes aripiprazole and its main active metabolite, dehydroaripiprazole. It provides a personalized dosage recommendation that maximizes the probability of achieving optimal therapeutic concentrations and minimizes the difficulties associated with trial-and-error therapeutic strategies carried out in clinical practice.


Assuntos
Antipsicóticos , Humanos , Aripiprazol/farmacologia , Aripiprazol/uso terapêutico , Antipsicóticos/uso terapêutico , Medicina de Precisão , Estudos Prospectivos , Citocromo P-450 CYP2D6/genética
3.
Cult. cuid ; 27(67): 303-320, Dic 11, 2023. tab, ilus
Artigo em Espanhol | IBECS | ID: ibc-228588

RESUMO

Objective. To explore the discourses and opinions about the collective consumption of alcohol with a gender perspective in university students. Methodology. Qualitative descriptive study. Information was collected through discussion groups in Seville in February and March 2019. 32 first-year nursing students participated. For data analysis, the Taylor & Bogdan steps were followed and a matrix was used for the categorization process. Four groups were made, aged between 18-24 years.Results. The following categories were obtained: type and form of consumption, social roles and behaviors.Conclusions. Gender differences are reflected in the students' discourse, highlighting the dissimilarities in behavior between genders and the greater guilt suffered by women. The female gender is the most noted for exceeding the limits and the most vulnerable in nightlife. This suggests the need to generate interventions aimed at redefining the stereotypes of the patriarchal model associated with gender and alcohol consumption, in order to minimize risk behaviors in youth leisure.(AU)


Objetivo. Explorar los discursos y opiniones acerca del consumo colectivo de alcohol con perspectiva de género en jóvenes universitarios. Metodología. Estudio cualitativo descriptivo. La recogida de información se realizó mediante grupos de discusión en Sevilla en febrero y marzo de 2019. Participaron 32 estudiantes de enfermería de primer curso. Para el análisis de los datos se siguieron los pasos de Taylor & Bogdan y se utilizó una matriz para el proceso de categorización. Se hicieron cuatro grupos, de edad entre 18-24 años. Resultados. Se obtuvieron las siguientes categorías: tipología y forma de consumo, roles sociales y conductas. Conclusiones. Las diferencias de género quedan plasmadas en el discurso del alumnado, destacando las disimilitudes de conducta entre géneros y la mayor culpabilidad que sufren las mujeres. El género femenino es el más señalado al exceder los límites y el más vulnerable en el ocio nocturno. Esto sugiere la necesidad de generar intervenciones orientadas a resignificar los estereotipos del modelo patriarcal asociados al género y al consumo de alcohol, para minimizar conductas de riesgo en el ocio juvenil.(AU)


Objetivo. Explorar os discursos e opiniões sobre o consumo coletivo de álcool com perspectiva de gênero em estudantes universitários. Metodologia. Estudo descritivo qualitativo. As informações foram coletadas por meio de grupos de discussão em Sevilha em fevereiro e março de 2019. Participaram 32 estudantes de enfermagem do primeiro ano. Para análise dos dados, seguiramse os passos de Taylor & Bogdan e utilizouse uma matriz para o processo de categorização. Foram constituídos quatro grupos, com idades compreendidas entre os 18 e os 24 anos. Resultados. Obtiveramse as seguintes categorias: tipo e forma de consumo, papéis sociais e comportamentos.Conclusões. As diferenças de gênero se refletem no discurso dos alunos, destacandose as diferenças de comportamento entre os gêneros e a maior culpa sofrida pelas mulheres. O gênero feminino é o mais destacado por ultrapassar os limites e o mais vulnerável na vida noturna. Isso sugere a necessidade de gerar intervenções que visem a redefinição dos estereótipos do modelo patriarcal associados ao gênero e ao consumo de álcool, a fim de minimizar comportamentos de risco no lazer juvenil.(AU)


Assuntos
Humanos , Masculino , Feminino , Adolescente , Perspectiva de Gênero , Consumo de Bebidas Alcoólicas/prevenção & controle , Comportamento do Adolescente , Consumo de Álcool na Faculdade , Alcoolismo , Pesquisa Qualitativa , Saúde do Adolescente , Epidemiologia Descritiva , Espanha
4.
Invest Ophthalmol Vis Sci ; 64(13): 34, 2023 10 03.
Artigo em Inglês | MEDLINE | ID: mdl-37862026

RESUMO

Purpose: To determine whether genetic risk single nucleotide polymorphisms (SNPs) for age-related macular degeneration (AMD) influence short-term response to intravitreal ranibizumab treatment. Methods: Forty-four treatment-naive AMD patients were included in a prospective observational study. They underwent three monthly injections of intravitreal ranibizumab for neovascular AMD. After an initial clinical examination (baseline measurement), a follow-up visit was performed to determine treatment response one month after the third injection (treatment evaluation). Patients were evaluated based on ophthalmoscopy, fluorescein angiography, optical coherence tomography (OCT), and OCT angiography. Peripheral venous blood was collected for DNA analysis at baseline visit. Patients were genotyped for single-nucleotide polymorphisms within AMD-relevant genes and classified on good or poor responders based on visual acuity, central retinal thickness, intraretinal fluid, and subretinal fluid. Results: One hundred ten AMD-associated SNPs have been analyzed. Six were found to be relevant when associated to ranibizumab treatment response. The genetic variants rs890293 (CYP2J2), rs11200638 (HTRA1), rs405509 (APOE), rs9513070 (FLT1), and rs8135665 (SLC16A8) predisposed patients to a good response, whereas rs3093077 (CRP) was associated with a poor response. FTL1, SLC16A8, and APOE were the SNPs that showed significance (P < 0.05) but did not pass Bonferroni correction. Conclusions: This is the first study that links novel polymorphisms in genes such as CRP, SCL16A8, or CYP2J2 to treatment response to ranibizumab therapy. On the other hand, HTRA1, FLT1, and APOE are linked to a good ranibizumab response. These SNPs may be good candidates for short-term treatment response biomarkers in AMD patients. However, further studies will be necessary to confirm our findings.


Assuntos
Ranibizumab , Degeneração Macular Exsudativa , Humanos , Ranibizumab/uso terapêutico , Inibidores da Angiogênese/uso terapêutico , Citocromo P-450 CYP2J2 , Fator A de Crescimento do Endotélio Vascular/genética , Acuidade Visual , Degeneração Macular Exsudativa/diagnóstico , Degeneração Macular Exsudativa/tratamento farmacológico , Degeneração Macular Exsudativa/genética , Polimorfismo de Nucleotídeo Único , Apolipoproteínas E , Injeções Intravítreas , Tomografia de Coerência Óptica , Resultado do Tratamento
5.
Front Pharmacol ; 14: 1237446, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37637419

RESUMO

CYP2D6 analysis prior to the prescription of pimozide is required above a certain dose by the Food and Drug Administration in order to detect individuals with the poor metabolizer status. This precautionary measure aims to prevent the occurrence of serious adverse drug reactions. This study presents a case of a patient diagnosed with schizophrenia spectrum disorder. The patient suffered re-admission in the psychiatry ward because of severe secondary symptoms due to the antipsychotic drug pimozide, previously prescribed on a first admission. In order to assess the patient's medication profile, real-time PCR was performed to analyze the main genes responsible for its metabolization, namely, CYP2D6 and CYP3A4. The pharmacogenetic study revealed that the patient is a poor metabolizer for CYP2D6, presenting deletion of both copies of the gene (diplotype *5/*5). Fortunately, the symptomatology disappeared after the withdrawal of the responsible drug. In conclusion, abiding by the pharmacogenetic clinical practice guidelines and the pharmacogenetic analysis of CYP2D6 when prescribing pimozide would have probably saved the patient from the consequences of severe side effects and the health system expenditure. There is an important need for more training in the pharmacogenetic field for specialists in psychiatry.

6.
Healthcare (Basel) ; 11(15)2023 Aug 03.
Artigo em Inglês | MEDLINE | ID: mdl-37570430

RESUMO

JUSTIFICATION: Providing care to patients with several conditions and simultaneously taking several medications at home is inexorably growing in developed countries. This trend increases the chances of home caregivers experiencing diverse errors related with medication or care. OBJECTIVE: To determine the effectiveness of four different educational solutions compared to the natural intervention (absence of intervention) to provide a safer care at home by caregivers. METHOD: Prospective, parallel, and mixed research study with two phases. Candidates: Home-based caregivers caring a person with multiple comorbid conditions or polymedication who falls into one of the three profiles of patients defined for the study (oncology, cardiovascular, or pluripathological patients). First phase: Experts first answered an online survey, and then joined together to discuss the design and plan the content of educational solutions directed to caregivers including the identification of medication and home care errors, their causes, consequences, and risk factors. Second phase: The true experiment was performed using an inter- and intrasubject single-factor experimental design (five groups: four experimental groups against the natural intervention (control), with pre- and post-intervention and follow-up measures) with a simple random assignment, to determine the most effective educational solution (n = 350 participants). The participants will be trained on the educational solutions through 360 V, VR, web-based information, or psychoeducation. A group of professionals called the "Gold Standard" will be used to set a performance threshold for the caring or medication activities. The study will be carried out in primary care centers, hospitals, and caregivers' associations in the Valencian Community, Andalusia, Madrid, and Murcia. EXPECTED RESULTS: We expect to identify critical elements of risk management at home for caregivers and to find the most effective and optimal educational solution to reduce errors at home, increasing caregivers' motivation and self-efficacy whilst the impact of gender bias in this activity is reduced. TRIAL REGISTRATION: Clinical Trial NCT05885334.

8.
Blood Coagul Fibrinolysis ; 33(6): 342-347, 2022 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-35834710

RESUMO

Immunosuppressive treatment and bypassing agents are used to treat acquired haemophilia A (AHA). On the other hand, COVID-19 infection induces a hypercoagulable state. Managing bleeding, risk of thrombosis, bypassing agents, active infection and immunosuppressive treatment can be challenging. A 72-year-old man was diagnosed with acquired hemophilia A. He received steroids, rituximab and recombinant activated factor VII (rFVIIa). He developed severe SARS-CoV-2 infection. Due to thrombotic risk, he received low-molecular-weight heparin (LMWH) and developed an iliopsoas hematoma. Because of the risk of thrombosis, treatment with recombinant porcine FVIII (rpFVIII) was requested. Tocilizumab was administered for treatment of SARS-CoV-2 infection and unexpected improvement of FVIII levels was noted. Concluding, rpFVIII treatment was well tolerated and effective, easy to monitor and to administer. Tocilizumab may play a role as immunosuppressive treatment for AHA. The role of LMWH remains to be established in patients with coagulopathies.


Assuntos
Tratamento Farmacológico da COVID-19 , COVID-19 , Hemofilia A , Pneumonia , Animais , COVID-19/complicações , Fator VIII/uso terapêutico , Hemofilia A/complicações , Hemofilia A/tratamento farmacológico , Heparina de Baixo Peso Molecular/uso terapêutico , Humanos , Masculino , Pneumonia/complicações , Proteínas Recombinantes/uso terapêutico , SARS-CoV-2 , Suínos
9.
Healthcare (Basel) ; 10(4)2022 Apr 02.
Artigo em Inglês | MEDLINE | ID: mdl-35455848

RESUMO

Intersex/differences of sex development (DSD) conditions are divergences among genitalia, gonads, and chromosome patterns. These variances have been present for millennia and socially defined according to the cultural system established. The aim of this study is to describe the perspectives of adult intersex/DSD people, their relatives, and intersex/DSD expert professionals in Spain. A descriptive qualitative study design was adopted. The study was carried out in several locations in Spain. Individual in-depth interviews were conducted and addressed to 12 participants (4 intersex/DSD people, 3 relatives, and 5 professional experts). A total of 4 spheres, 10 categories, and 26 subcategories were obtained. The number of verbatims obtained in each of the spheres described were intersex/DSD as a community (n = 54), health sphere approach (n = 77), law sphere approach (n = 12), and psychosocial approach (n = 73). Regarding intersex/DSD as a community sphere, there is a clear need of promoting education on sex and body diversity. With respect to the health sphere, it is mentioned the inadequacy of services and how this has a negative impact on the health of intersex/DSD people. Regarding the law sphere, it is highlighted the need of designing legislations at a national level which protect and defend the rights of intersex/DSD people. Regarding the psychosocial sphere, these people suffer from social isolation, secrecy, shame, self-identity questioning, and mental disorders that negatively impact their quality of life.

12.
Index enferm ; 31(1): 5-9, Ene-Mar. 2022. tab
Artigo em Espanhol | IBECS | ID: ibc-208860

RESUMO

Objetivo: Explorar las prácticas de promoción de la salud de las enfermeras de atención primaria en la violencia de género con la población adolescente. Metodología: Estudio cualitativo a través de grupos de discusión y entrevistas semi-estructuradas. Participaron 37 informantes, 23 enfermeras y 14 enfermeros, vinculados a atención primaria de Sevilla y provincia. Se llevó a cabo un análisis del contenido con el software QSR NudisNVivo12®. Resultados: Del análisis emergen varias categorías: prácticas para la educación de la población adolescente, prácticas para la detección de situaciones desigualitarias y prácticas para intervenir en la violencia en el noviazgo. Conclusiones: Enfermeras y enfermeros realizan intervenciones educativas promoviendo relaciones igualitarias, con diferentes técnicas. Solo las enfermeras realizan cribado y asesorías para detectar casos. Enfermeras y enfermeros realizan intervenciones para interrumpir relaciones abusivas. Se evidencia sensibilidad a la violencia de género y la necesidad de evaluar la efectividad y la rentabilidad de las intervenciones realizadas.(AU)


Objective: Explore the health promotion practices of primary care nurses in gender violence with the adolescents. Methods: Qualitative study with discussion groups and semi-structured interviews. 37 informants participated, 23 female nurses and 14 male nurses, of primary care in Seville and the province. A content analysis was carried out with the QSR NudisNVivo12® software. Results: Several categories emerge from the analysis: practices for the education of the adolescents, practices for detecting and practices for intervening in dating violence. Conclusions: Female nurses and male nurses carry out educational interventions promoting egalitarian relationships, with different techniques. Only nurses female perform screening and counseling to detect cases. Female nurses and male nurses perform interventions to interrupt abusive relationships. There is sensitivity to gender violence and the need to evaluate the effectiveness and profitability of the interventions carried out is evidenced.(AU)


Assuntos
Humanos , Masculino , Feminino , Enfermeiras e Enfermeiros , Promoção da Saúde , Violência de Gênero , 57433 , Atenção Primária à Saúde , Adolescente , Comportamento do Adolescente , Violência por Parceiro Íntimo , Cuidados de Enfermagem , Epidemiologia Descritiva , Pesquisa Qualitativa , Enfermagem , Espanha , Enfermagem em Saúde Comunitária
13.
Oral Dis ; 28(7): 1882-1890, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34242451

RESUMO

OBJECTIVE: Recurrent aphthous stomatitis (RAS) is a condition that affects 20% of the world population and is characterized by painful ulcers in the oral mucosa. So far, the epidemiology and risk factors of RAS have been infrequently studied. Our objective was to determine whether sleep-related factors are related to the occurrence of RAS in the first prospective study carried out on this topic. METHODS: A cohort of 11210 Spanish students, 13-17 years old, was followed up for one year. Sleep disorders were assessed at baseline using a standard validated questionnaire. RESULTS: We detected 2655 new cases of RAS with a total of 287,262 person-week of follow-up. Subjects with high (4th quartile) Insomnia Index showed an incidence rate ratio (IRR) of RAS of 1.29 (95% confidence interval (CI) 1.15-1.45), while subjects with high Hypersomnia Index presented an IRR of 1.42 (95% CI 1.26-1.61). A high score of sleep-related phenomena was also associated with an increased IRR: 1.53 (95% CI 1.37-1.69). Adolescents with high level of sleep satisfaction were at lower risk of RAS: 0.88 (95% CI 0.77-1.01). CONCLUSION: These findings suggest that sleep disorders are moderately associated with RAS in adolescents.


Assuntos
Transtornos do Sono-Vigília , Estomatite Aftosa , Adolescente , Estudos de Coortes , Humanos , Estudos Prospectivos , Recidiva , Qualidade do Sono , Transtornos do Sono-Vigília/complicações , Transtornos do Sono-Vigília/epidemiologia , Estomatite Aftosa/complicações , Estomatite Aftosa/epidemiologia
14.
Blood Coagul Fibrinolysis ; 33(Suppl 1): S12-S14, 2022 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-34783692

RESUMO

Von Willebrand disease (VWD) is the most frequent inherited bleeding disorder caused by quantitative or qualitative defects of von Willebrand factor (VWF). This protein far from simplicity constitutes a very complex molecular model, remaining unravelled yet many aspects of it, even though the VWF gene (VWF) was cloned already in 1985 and the structure of VWF well defined. VWD diagnosis is difficult to achieve in a significant proportion of patients due to both disease heterogeneity and limitations in existing test processes. The cornerstone of diagnosis relies on interpretation of VWF test results, the presence of clinical manifestations of bleeding, especially mucocutaneous, and (in most cases) a positive family history. However, even with a significant bleeding history, a family history may not be positive due to factors of incomplete penetrance and variable expressivity that affect genetic changes. The laboratory diagnosis of VWD can be difficult, as the disease is heterogeneous and an array of assays is required to describe the phenotype. Basic classification of quantitative (type 1 and 3) and qualitative (type 2 variants) VWD requires determination of VWF antigenic (VWF:Ag) levels and assaying of VWF ristocetin cofactor (VWF:RCo) activity. The latter is required for identifying and subtyping VWD, but the assay is poorly standardized. For that reason, novel VWF activity assays have been developed awaiting more extensive comparison data between different methodologies and requiring validation on larger patient series. The qualitative type 2 VWF deficiency can be further divided into four different subtypes (A, B, M and N) using specific assays that measure other activities or the size distribution of VWF multimers. However, frequently, it may be difficult to correctly classify the VWD phenotype, and genetic analysis is through mutation identification may provide a tool to clarify the disorder.


Assuntos
Hemofilia A , Doenças de von Willebrand , Testes de Coagulação Sanguínea , Técnicas de Laboratório Clínico , Humanos , Doenças de von Willebrand/diagnóstico , Doenças de von Willebrand/genética , Fator de von Willebrand/genética
15.
Index enferm ; 31(2): [87-90], s.f.
Artigo em Espanhol | IBECS | ID: ibc-208877

RESUMO

Objetivo principal: explorar las vivencias y sentimientos sobre el cuidado que manifiestan las personas cuidadoras a través de las metáforas, profundizando en las diferencias de género. Metodología: Estudio cualitativo a través de entrevistas semi-estructuradas. Participaron 24 informantes, 7 pacientes y 17 personas cuidadoras vinculadas a una red de apoyo socio familiar. Se llevó a cabo un análisis del contenido con el software Atlas-ti versión 7®. Resultados principales: Las metáforas expresadas a través de los sentimientos muestran sentimientos comunes en hombres y mujeres: el amor y la satisfacción. Se identificaron sentimientos exclusivos de mujeres, que beben de mandatos de género. Se observó que los hombres se están incorporando al cuidado. Conclusión principal: Las metáforas encontradas desvelan los significados que se atribuyen al cuidado. Las mujeres son conscientes del valor de cuidar, pero lo normalizan. Los hombres esperan reconocimiento social.(AU)


Objective: to explore the experiences and feelings about care that caregiver’s manifest through experiential and emotional metaphors, with special focus on gender differences. Methods: Qualitative study through semi-structured interviews. 24 informants, 7 patients and 17 caregivers participated, linked to a social and family support network. A content analysis was carried out with Atlas-ti version 7® software. Results: The metaphors expressed through feelings show common feelings in men and women: love and satisfaction. Feelings exclusive to women were identified, that come from gender mandates. It was observed that men are joining care more and more. Conclusions: The metaphors found reveal the meanings attributed to care. Women are aware of the value of caring, but they normalize it. Men expect social recognition.(AU)


Assuntos
Humanos , Masculino , Feminino , Metáfora , Emoções , 57433 , Assistência Domiciliar , Cuidadores , Enfermagem , Inquéritos e Questionários , 25783
16.
Haemophilia ; 27(6): 1007-1021, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34494337

RESUMO

INTRODUCTION: Type 2N von Willebrand disease (VWD) is characterized by a decreased affinity of von Willebrand factor (VWF) for factor VIII (FVIII). Abnormal binding of FVIII to VWF (VWF:FVIIIB), results in low FVIII plasma levels, which can lead to a misdiagnosis of mild haemophilia A. Accurate diagnosis of type 2N VWD is essential for appropriate genetic counselling and therapy. This disease can be distinguished from haemophilia A by in vitro assays (measurement VWF:FVIIIB activity) and/or genetic analysis. AIM: To identify the current challenges in the diagnosis and treatment of this type of VWD and provide an in-depth description of the phenotypes and mutations identified. RESULTS: Twenty-eight patients had at least one type 2N mutation, and 13 of these had a type 2N mutation combined with other variations. Three type 2N mutations were detected: p.Arg816Trp, p.Arg854Gln, and p.Arg763Ser. Two of these are the most frequently described mutations worldwide. This mutational spectrum differs from the broad spectrum seen in neighbouring France, where at least eight distinct 2N mutations have been found. In the PCM-EVW-ES cohort, 11 asymptomatic type 2N carriers with borderline FVIII plasma levels would probably have been excluded if the evaluation had been based on clinical and laboratory data only. Likewise, three patients with a severe phenotype would have been classified as homozygous for a 2N mutation if only the phenotype study had been performed. CONCLUSION: The high detection yield and affordability of next-generation sequencing support the use of this technology as a first-line diagnostic tool in this setting.


Assuntos
Hemofilia A , Doença de von Willebrand Tipo 2 , Doenças de von Willebrand , Fator de von Willebrand/genética , Fator VIII/genética , Heterozigoto , Homozigoto , Humanos , Doença de von Willebrand Tipo 2/diagnóstico , Doença de von Willebrand Tipo 2/genética
17.
Thromb Haemost ; 120(3): 437-448, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32135566

RESUMO

The clinical diagnosis of von Willebrand disease (VWD), particularly type 1, can be complex because several genetic and environmental factors affect von Willebrand factor (VWF) plasma levels. An estimated 60% of the phenotypic variation is attributable to hereditary factors, with the ABO blood group locus being the most influential. However, recent studies provide strong evidence that nonsynonymous single nucleotide variants (SNVs) contribute to VWF and factor VIII phenotypic variability in healthy individuals. This study aims to investigate the role of common VWF SNVs on VWD phenotype by analyzing data from 219 unrelated patients included in the "Molecular and Clinical Profile of von Willebrand Disease in Spain project." To that end, generalized linear mixed-effects regression models were fitted, and additive and epistatic analyses, and haplotype studies were performed, considering five VWD-related measures (bleeding score, VWF:Ag, VWF:RCo, factor VIII:C, and VWF:CB). According to these analyses, homozygotes: for p.Thr789Ala(C) would be expected to show 39% higher VWF:Ag levels; p.Thr1381Ala(C), 27% lower VWF:Ag levels; and p.Gln852Arg(C), 52% lower VWF:RCo levels. Homozygotes for both p.Thr789Ala(C) and p.Gln852Arg(T) were predicted to show 185% higher VWF:CB activity, and carriers of two copies of the p.Thr1381Ala(T)/p.Gln852Arg(T) haplotype would present a 100% increase in VWF:RCo activity. These results indicate a substantial effect of common VWF variation on VWD phenotype. Although additional studies are needed to determine the true magnitude of the effects of SNVs on VWF, these findings provide new evidence regarding the contribution of common variants to VWD, which should be taken into account to enhance the accuracy of the diagnosis and classification of this condition. ClinicalTrials.gov identifier: NCT02869074.


Assuntos
Mutação de Sentido Incorreto , Polimorfismo de Nucleotídeo Único , Doenças de von Willebrand/sangue , Doenças de von Willebrand/genética , Fator de von Willebrand/genética , Adulto , Simulação por Computador , Fator VIII/genética , Fator VIII/metabolismo , Feminino , Haplótipos , Hemorragia , Heterozigoto , Homozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Estudos Prospectivos , Sistema de Registros , Análise de Regressão , Espanha , Adulto Jovem , Fator de von Willebrand/química
18.
Semin Thromb Hemost ; 45(7): 708-719, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31041796

RESUMO

Diagnosis of von Willebrand disease (VWD) depends on personal and family history of bleeding and confirmatory laboratory testing. Currently available phenotypic tests for VWD contain potential sources for error that may distort results. Despite an exponential growth of information about the von Willebrand factor gene (VWF), the role of molecular diagnosis in VWD is still controversial. Due to the complexity and high cost of conventional molecular analyses, some investigators have recommended limiting this approach to distinguish suspected type 2N VWD from hemophilia A, type 2B from platelet-type VWD, and the exploration of type 3 VWD. New genetic methodologies and approaches are becoming available, but there is still some reluctance for their implementation in VWD diagnosis. This article discusses the pros and cons of molecular testing in VWD considering the experience obtained through the multicenter project "Molecular and Clinical Profile of VWD in Spain (PCM-EVW-ES)."


Assuntos
Terapia de Alvo Molecular/métodos , Doenças de von Willebrand/diagnóstico , Fator de von Willebrand/genética , Humanos , Fenótipo
20.
Cult. cuid ; 23(53): 156-167, ene.-abr. 2019.
Artigo em Espanhol | IBECS | ID: ibc-190056

RESUMO

La mutilación genital femenina (MGF) comprende todos los procedimientos que, de forma intencional y por motivos no médicos, alteran o lesionan de forma parcial o total los órganos genitales femeninos, ya sea por motivos culturales o religiosos. Se estima que entre unos 100 y 140 millones de niñas y mujeres de todo el mundo han sufrido algún tipo de mutilación genital femenina. En Europa, afecta aproximadamente a unas 500.000 niñas, y en países como España en torno a 17.000 están en riesgo de sufrir dicha práctica. El principal objetivo de este estudio, es describir la mutilación genital femenina/jadare desde la perspectiva de la cultura fulbe, con el fin de aportar unas medidas estratégicas, que ayuden al profesional de salud a realizar una intervención adecuada. Se ha llevado a cabo un estudio de casos. Los datos se han obtenidos de las entrevistas semiestructuradas realizadas a 5 sujetos de la cultura fulbe, tres mujeres y dos hombres; de las conversaciones informales y de observación exhaustiva de los participantes. Actualmente, en la cultura fulbe, tradiciones como la MGF son prácticas habituales que mantienen a pesar de su prohibición. Dentro de la comunidad fula, Jadare es el término usado para referirse a aquellas actividades llevadas a cabo como proceso de iniciación a la edad adulta para las niñas, antes de su primera menstruación y posterior matrimonio. El significado de este día dentro de la cultura Fulbe difiere sustancialmente del sentido que en España y otros países europeos atribuyen a la MGF


OBJECTIVE: Female genital mutilation covers all procedures that, intentionally and for non-medical reasons, alter or damage, partially or totally, the female genital organs whether for cultural or religious reasons. It is estimated that between 100 and 140 million girls and women around the world have suffered one of the first three types of female genital mutilation. "In Europe, it affects approximately 500,000 girls, and in countries such as Spain, around 17,000 girls are at risk of suffering from this practice. The main objective of the study is to describe the female genital mutilation/jadare from the perspective of the Fulbe culture, in order to provide strategic measures, which help the health professional to carry out an appropriate intervention. A case study has been carried out. The data were obtained from the semi-structured interviews conducted with 5 subjects of the Fulbe culture, three women and two men; of informal conversations and thorough observation of the PARTICIPANTS: Currently, in fulbe culture, traditions such as FGM are common practices that they maintain despite their prohibition. Within the Fula community, Jadare is the term used to refer to those activities carried out as a process of initiation into adulthood for girls, before their first menstruation and subsequent marriage. The meaning of this day within the Fulbe culture differs substantially from the meaning that in Spain and other European countries attribute to FGM. After carrying out an exhaustive observation and several interviews, we can confirm that female genital mutilation is a practice implemented within the Fulbe culture by tradition "Co Fina Tauwa". That is the reason why some reject its prohibition


OBJETIVO: A mutilação genital feminina (MGF) inclui todos os procedimentos que, intencionalmente e por razões não médicas, alteram ou afetam parcial ou totalmente os órgãos genitais femininos, seja por razões culturais ou religiosas. Estima-se que entre 100 e 140 milhões de mulheres e mulheres em todo o mundo tenham sido um dos primeiros tipos de mutilação genital feminina. Na Europa, aproximadamente 500.000 meninas e em países como a Espanha, cerca de 17.000. O principal objetivo deste estudo é descrever a mutilação genital feminina/Jadare na perspectiva da cultura, a fim de fornecer medidas estratégicas, ajudar o profissional de saúde a realizar uma intervenção adequada. Foi realizado um estudo de caso. Os dados foram obtidos a partir das entrevistas semiestruturadas realizadas com 5 sujeitos da cultura Fulbe, três mulheres e dois homens; de conversas informais e observação minuciosa dos participantes. Atualmente, na cultura fulbe, tradições como a MGF são práticas comuns que mantêm apesar de sua proibição. Dentro da comunidade Fula, Jadare é o termo usado para se referir às atividades realizadas como um processo de iniciação na idade adulta para meninas, antes de sua primeira menstruação e casamento subseqüente. O significado deste dia dentro da cultura Fulbe difere substancialmente do significado que na Espanha e outros países europeus atribuem à MGF. Após a realização de uma observação exaustiva e várias entrevistas, podemos confirmar que a mutilação genital feminina é uma prática realizada dentro da cultura Fulbe pela tradição "Co Fina Tauwa". É por isso que alguns rejeitam sua proibição


Assuntos
Humanos , Masculino , Feminino , Criança , Circuncisão Feminina/etnologia , Características Culturais , Entrevistas como Assunto , Guiné-Bissau
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