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1.
Cent Eur J Public Health ; 28(1): 82-84, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32228824

RESUMO

OBJECTIVES: About four million people are affected by rare diseases in Germany and 30 million in the EU. In 2013, a national action plan for people with rare diseases was adopted in Germany which is also aimed at improving the information situation and better gathering of information for affected patients and their families. Since then, various sources of information and medical care structures have been made available. The aim of this study was to evaluate the state of knowledge about information sources and health care centres for rare diseases among those affected. METHODS: The study was carried out as anonymous survey among the member associations of the German Alliance for Chronic Rare Diseases (German acronym ACHSE e. V.). For this, a questionnaire was developed which in addition to questions on gender, age and disease comprised free text input referring to knowledge of health care centres or expert centres and source of information on rare diseases in Germany. RESULTS: A total of 484 individuals suffering from 96 different rare diseases participated in the survey. Of these, 74.47% are aware of medical or dental care centres for treatment of their types of rare disease; 69.31% use self-help groups as a source of information, only a few respondents know government-sponsored "se-atlas" and "Orphanet". CONCLUSION: The majority of the respondents know medical care centres, most participants use self-help groups as information source, however, government-supported portals are largely unknown so that there is a need for further information in this regard.


Assuntos
Instalações de Saúde , Conhecimentos, Atitudes e Prática em Saúde , Serviços de Informação , Doenças Raras/terapia , Alemanha , Humanos , Inquéritos e Questionários
2.
Bull Cancer ; 107(3): 385-390, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32115180

RESUMO

The group of rare malignant ovarian tumors includes the group of germ cell tumors, sex cords stromal ovarian tumors, small cell carcinoma, malignant Brenner tumors, rare epithelial tumors such as mucinous carcinoma, clear cell carcinoma, or low-grade serous carcinoma, as well as ovarian carcinosarcoma. Together they comprise about 10% of all ovarian tumors. Due to their low prevalence and their heterogeneity, data and treatment recommendations are limited. Even though all ovarian tumors are staged according to the FIGO staging of epithelial ovarian tumors, treatment differs especially in germ cell tumors and sex cords stromal ovarian tumors. Non-epithelial ovarian tumors can arise from a variety of ovarian precursor cells such as germ cells, granulosa cells, theca cells, or stromal fibroblasts. As can be expected already due to their divergent precursor lesions, these malignancies are substantially different but united by their rarity. This overview article gives a comprehensive summary on the pathology and clinical presentation, as well as therapy recommendations of a selection of those rare ovarian tumors, based on the latest national guidelines and related important publications.


Assuntos
Neoplasias Ovarianas , Doenças Raras , Adenocarcinoma de Células Claras/patologia , Adenocarcinoma de Células Claras/terapia , Adenocarcinoma Mucinoso/patologia , Adenocarcinoma Mucinoso/terapia , Tumor de Brenner/patologia , Tumor de Brenner/terapia , Carcinoma de Células Pequenas/patologia , Carcinoma de Células Pequenas/terapia , Carcinossarcoma/patologia , Carcinossarcoma/terapia , Cistadenocarcinoma Seroso/patologia , Cistadenocarcinoma Seroso/terapia , Feminino , Humanos , Neoplasias Embrionárias de Células Germinativas/patologia , Neoplasias Embrionárias de Células Germinativas/terapia , Neoplasias Ovarianas/patologia , Neoplasias Ovarianas/terapia , Doenças Raras/patologia , Doenças Raras/terapia , Tumores do Estroma Gonadal e dos Cordões Sexuais/patologia , Tumores do Estroma Gonadal e dos Cordões Sexuais/terapia
4.
Am J Hum Genet ; 106(2): 143-152, 2020 02 06.
Artigo em Inglês | MEDLINE | ID: mdl-32032513

RESUMO

Advances in genomics have transformed our ability to identify the genetic causes of rare diseases (RDs), yet we have a limited understanding of the mechanistic roles of most genes in health and disease. When a novel RD gene is first discovered, there is minimal insight into its biological function, the pathogenic mechanisms of disease-causing variants, and how therapy might be approached. To address this gap, the Canadian Rare Diseases Models and Mechanisms (RDMM) Network was established to connect clinicians discovering new disease genes with Canadian scientists able to study equivalent genes and pathways in model organisms (MOs). The Network is built around a registry of more than 500 Canadian MO scientists, representing expertise for over 7,500 human genes. RDMM uses a committee process to identify and evaluate clinician-MO scientist collaborations and approve 25,000 Canadian dollars in catalyst funding. To date, we have made 85 clinician-MO scientist connections and funded 105 projects. These collaborations help confirm variant pathogenicity and unravel the molecular mechanisms of RD, and also test novel therapies and lead to long-term collaborations. To expand the impact and reach of this model, we made the RDMM Registry open-source, portable, and customizable, and we freely share our committee structures and processes. We are currently working with emerging networks in Europe, Australia, and Japan to link international RDMM networks and registries and enable matches across borders. We will continue to create meaningful collaborations, generate knowledge, and advance RD research locally and globally for the benefit of patients and families living with RD.


Assuntos
Modelos Animais de Doenças , Marcadores Genéticos , Doenças Raras/genética , Doenças Raras/terapia , Sistema de Registros/normas , Animais , Bases de Dados Factuais , Genômica , Humanos , Doenças Raras/epidemiologia
6.
Nat Med ; 26(2): 181-187, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-32042194

RESUMO

Despite rare cancers accounting for 25% of adult tumors1, they are difficult to study due to the low disease incidence and geographically dispersed patient populations, which has resulted in significant unmet clinical needs for patients with rare cancers. We assessed whether a patient-partnered research approach using online engagement can overcome these challenges, focusing on angiosarcoma, a sarcoma with an annual incidence of 300 cases in the United States. Here we describe the development of the Angiosarcoma Project (ASCproject), an initiative enabling US and Canadian patients to remotely share their clinical information and biospecimens for research. The project generates and publicly releases clinically annotated genomic data on tumor and germline specimens on an ongoing basis. Over 18 months, 338 patients registered for the ASCproject, which comprises a large proportion of all patients with angiosarcoma. Whole-exome sequencing (WES) of 47 tumors revealed recurrently mutated genes that included KDR, TP53, and PIK3CA. PIK3CA-activating mutations were observed predominantly in primary breast angiosarcoma, which suggested a therapeutic rationale. Angiosarcoma of the head, neck, face and scalp (HNFS) was associated with a high tumor mutation burden (TMB) and a dominant ultraviolet damage mutational signature, which suggested that for the subset of patients with angiosarcoma of HNFS, ultraviolet damage may be a causative factor and that immune checkpoint inhibition may be beneficial. Medical record review revealed that two patients with HNFS angiosarcoma had received off-label therapeutic use of antibody to the programmed death-1 protein (anti-PD-1) and had experienced exceptional responses, which highlights immune checkpoint inhibition as a therapeutic avenue for HNFS angiosarcoma. This patient-partnered approach has catalyzed an opportunity to discover the etiology and potential therapies for patients with angiosarcoma. Collectively, this proof-of-concept study demonstrates that empowering patients to directly participate in research can overcome barriers in rare diseases and can enable discoveries.


Assuntos
Neoplasias da Mama/genética , Neoplasias da Mama/terapia , Hemangiossarcoma/genética , Hemangiossarcoma/terapia , Participação do Paciente , Doenças Raras/genética , Doenças Raras/terapia , Adulto , Idoso , Idoso de 80 Anos ou mais , Canadá , Classe I de Fosfatidilinositol 3-Quinases/genética , Análise Mutacional de DNA , Exoma , Feminino , Genoma Humano , Genômica , Humanos , Pessoa de Meia-Idade , Mutação , Desenvolvimento de Programas , Proteína Supressora de Tumor p53/genética , Estados Unidos , Receptor 2 de Fatores de Crescimento do Endotélio Vascular/genética , Sequenciamento Completo do Exoma , Adulto Jovem
8.
Presse Med ; 48(12): e382-e388, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31757737

RESUMO

BACKGROUND: Rare diseases are defined by a prevalence of less than one out of 2000 persons. In clinical practice, their management is difficult, due to their diversity, their complexity and a lack of adapted physician training. OBJECTIVE: The aims of this study were to identify rare skin diseases in a reference center, to describe the difficulties encountered by general practitioners (GPs) in management of these uncommon cases, and to pinpoint the characteristics of the GPs having the most problems. METHODS: A survey conducted from March to June 2017 involving GPs at least one of whose rare skin disease patients was being monitored in a reference center. RESULTS: All in all, 96/195 (49.2%) of the GPs contacted completed the questionnaire, and virtually all of them (95%) reported five main categories of difficulties: giving a diagnosis, monitoring treatment, coordinating care, providing support, and ensuring management of intercurrent pathologies. The most widely reported difficulties were related to diagnosis (88.5%) and care coordination (76%). The GPs most in need of assistance were those practicing in rural areas (11 times more likely to experience difficulties), those with over 10 years of experience (up to 9.8 times more risk) and those not considering their role in the management of patients with rare diseases as instrumental (2.28 times more risk). CONCLUSIONS: This study brought to light the difficulties encountered by GPs in management of patients with rare skin diseases. We identified those the most in need of assistance, who are to be targeted for actions aimed at improving the care and treatment of patients suffering from rare skin diseases.


Assuntos
Competência Clínica , Clínicos Gerais , Padrões de Prática Médica , Doenças Raras/terapia , Dermatopatias/terapia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Atitude do Pessoal de Saúde , Criança , Pré-Escolar , Competência Clínica/normas , Competência Clínica/estatística & dados numéricos , Feminino , França/epidemiologia , Medicina Geral/educação , Clínicos Gerais/normas , Clínicos Gerais/estatística & dados numéricos , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Padrões de Prática Médica/normas , Padrões de Prática Médica/estatística & dados numéricos , Doenças Raras/epidemiologia , Dermatopatias/epidemiologia , Inquéritos e Questionários , Adulto Jovem
10.
BMC Cancer ; 19(1): 965, 2019 Oct 17.
Artigo em Inglês | MEDLINE | ID: mdl-31623602

RESUMO

BACKGROUND: Sarcomatoid carcinoma of unknown primary (SCUP) is a rare entity of either poorly differentiated carcinoma with sarcoma-like differentiation or a true mixed lineage neoplasm. Limited data regarding clinicopathological profile and management exists. METHODS: We retrospectively reviewed the MD Anderson Cancer of Unknown Primary database and tumor registry to identify 48 SCUP patients between 2001 and 2017. Patient characteristics, pathology, molecular diagnostics, treatments, and outcomes were obtained. Kaplan-Meier method was used to estimate overall survival (OS) and compared using log rank test. RESULTS: Median age at diagnosis was 59 years (range 27-86). Majority of patients were female (58%) and presented with ≥3 metastatic sites (52%), commonly lymph node (50%), bone (42%), lung (27%), and liver (21%). First line treatment included chemotherapy (35%), surgery (27%), and radiation (24%). Gemcitabine and docetaxel (18%) was the most common chemotherapy regimen. Median OS for entire cohort was 11 months (95% CI: 5.6 to 16.4). Poor performance status (PS), > 1 metastatic site, elevated lactate dehydrogenase (LDH), and high neutrophil-to-lymphocyte ratio (NLR) were significantly associated with worse OS on univariate analyses. On multivariate analyses, poor PS (HR 8.7; 95%CI: 3.0-25.0; p <  0.001) and high NLR (HR 3.4; 95%CI: 1.3-8.8; p = 0.011) emerged as independent prognostic factors for OS. CONCLUSIONS: SCUP is a rare presentation with an aggressive clinical course and limited survival. Diagnosis is difficult to make and requires careful review and synthesis of histology, immunohistochemistry, and molecular diagnostics. Chemotherapy resistance remains a challenge. Early mutational profiling is warranted, and clinical trial participation should be encouraged for this subset.


Assuntos
Carcinossarcoma/mortalidade , Carcinossarcoma/patologia , Neoplasias Primárias Desconhecidas/mortalidade , Neoplasias Primárias Desconhecidas/patologia , Doenças Raras/mortalidade , Doenças Raras/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores Tumorais/imunologia , Carcinossarcoma/imunologia , Carcinossarcoma/terapia , Terapia Combinada , Resistencia a Medicamentos Antineoplásicos , Feminino , Seguimentos , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Terapia de Alvo Molecular , Neoplasias Primárias Desconhecidas/imunologia , Neoplasias Primárias Desconhecidas/terapia , Prognóstico , Estudos Prospectivos , Doenças Raras/imunologia , Doenças Raras/terapia , Estudos Retrospectivos , Taxa de Sobrevida , Resultado do Tratamento
12.
Lakartidningen ; 1162019 Sep 26.
Artigo em Sueco | MEDLINE | ID: mdl-31573670

RESUMO

Systemic sclerosis is an autoimmune systemic disease with an annual incidence in Sweden of only 20 cases per million and a standardised mortality rate of 3-4. Disease onset is usually preceded by a period with Raynaud's phenomenon, combined with structurally abnormal nailbed capillaries and accompanied by presence of scleroderma related autoantibodies. The presenting symptoms are skin thickness, puffy fingers, digital ulcers, dysphagia, joint stiffness and pain, and pruritus. Optimal management involves a number of specialists including allied health professionals. Early recognition, diagnosis and treatment are important. The dominating causes of death are cardiopulmonary.


Assuntos
Escleroderma Sistêmico , Autoanticorpos/imunologia , Humanos , Atenção Primária à Saúde , Doenças Raras/complicações , Doenças Raras/diagnóstico , Doenças Raras/patologia , Doenças Raras/terapia , Doença de Raynaud/etiologia , Encaminhamento e Consulta , Escleroderma Sistêmico/complicações , Escleroderma Sistêmico/diagnóstico , Escleroderma Sistêmico/patologia , Escleroderma Sistêmico/terapia
13.
Cien Saude Colet ; 24(10): 3637-3650, 2019.
Artigo em Português, Inglês | MEDLINE | ID: mdl-31576994

RESUMO

Rare genetic diseases are an important public health problem, but they are still little studied in Collective Health. This article aims to analyze the 'therapeutic itineraries' of patients in search of a diagnosis and treatment for rare genetic diseases in the cities of Rio de Janeiro, Salvador and Porto Alegre. It focuses on the material challenges, emotional and structural problems faced in these trajectories. Semi-structured interviews were conducted with patients/caregivers and health professionals in the context of public health medical genetics. Our findings suggest that the experience of the rare genetic disease is aggravated by practical, inter-relational and bureaucratic/institutional problems. The reality of long and circuitous journeys to obtain a diagnosis, non-geneticists' lack of knowledge about rare diseases, difficulties in transportation and access to specialists, diagnostic and complementary examinations, and access to high-cost medicines and food supplies were common challenges in all the narratives examined in the three Brazilian cities. In addition, adherence to care provided by medical genetics requires action and strategies that depend on arrangements involving family members, physicians, patient associations, and the state.


Assuntos
Doenças Genéticas Inatas/diagnóstico , Saúde Pública , Doenças Raras/diagnóstico , Brasil , Cuidadores/estatística & dados numéricos , Cidades , Doenças Genéticas Inatas/terapia , Pessoal de Saúde/estatística & dados numéricos , Acesso aos Serviços de Saúde , Humanos , Entrevistas como Assunto , Cooperação do Paciente , Doenças Raras/genética , Doenças Raras/terapia
14.
G Ital Nefrol ; 36(5)2019 Sep 24.
Artigo em Inglês | MEDLINE | ID: mdl-31580546

RESUMO

Calcific uremic arteriolopathy (CUA) is a highly morbid condition usually found in ESRD patients that has rarely been reported after renal transplantation and renal function restoration. Furthermore, little is known about the optimal management of CUA in this setting. Herein, we report on the clinical case of AB, a 70-year-old woman who developed CUA after renal transplantation and renal function restoration. However, other risk factors for CUA such as diabetes and warfarin treatment, due to mechanical aortic valve implantation, were present. Thirty-eight months after renal transplantation she developed erythema and livedo reticularis in both legs and a gradually enlarging skin ulcer in the right leg. A skin biopsy of the ulcer showed features compatible with the CUA, such as sub-intimal calcification and luminal obstruction of the small dermal arterioles, tissue ischemia and signs of adipocytes degeneration. A multidisciplinary approach was adopted, including medical and non-medical treatments such as surgical debridement and vacuum-assisted closure therapy. Medical treatments included a five weeks course of once a week intravenous infusion of pamidronate and intravenous sodium thiosulfate (STS) at increasing doses. Four months after beginning the therapy with STS, a complete healing of the ulcer on the right leg and the disappearance of the livedo reticularis on the left leg was noted. In conclusion, although rare CUA may develop also in renal transplanted patients, a timely and combined therapeutic approach is essential for its resolutive treatment. Sodium thiosulfate therapy has proven to be effective and tolerated.


Assuntos
Calciofilaxia/terapia , Transplante de Rim/efeitos adversos , Úlcera da Perna/terapia , Doenças Raras/terapia , Idoso , Anticoagulantes/uso terapêutico , Conservadores da Densidade Óssea/administração & dosagem , Calciofilaxia/etiologia , Quelantes/administração & dosagem , Terapia Combinada/métodos , Diabetes Mellitus , Feminino , Humanos , Úlcera da Perna/etiologia , Livedo Reticular/etiologia , Livedo Reticular/terapia , Pamidronato/administração & dosagem , Doenças Raras/etiologia , Fatores de Risco , Tiossulfatos/administração & dosagem , Varfarina/uso terapêutico
16.
Ann Ist Super Sanita ; 55(3): 251-257, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31553319

RESUMO

The paper reviews the literature available on value based health care and relates it to rare diseases. Starting from the economic definition of value and healthcare evaluation, efficacy and efficiency, it includes the equity dimension to define value-based healthcare. It embraces also the cultural framework associated to the concepts of health and disease, normal and pathological, right or wrong for the patient. The paper highlights that a prevention and recovery view and global evaluation of costs/benefits ratio for rare diseases make difficult and limited the applicability of the value-based approach to rare diseases. Since epidemiology of rare diseases identified a series of difficulties in applying value-based public health strategies to rare diseases, the paper underlines the necessity of new culture of health and well-being, radically re-examining how to organise the delivery of prevention, and healthcare services, and finding alternative ways of empowering and giving voice to vulnerable and marginalised groups.


Assuntos
Assistência à Saúde/economia , Doenças Raras/economia , Doenças Raras/terapia , Acesso aos Serviços de Saúde , Humanos , Assistência Centrada no Paciente
17.
Ann Ist Super Sanita ; 55(3): 265-269, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31553321

RESUMO

Rare disease community is one of the largest patient populations in the world estimated to be 350 million of people. Collectively common, rare diseases pose a significant medical and economic burden for health systems worldwide. In this respect, rare diseases are considered a priority of public health. The study is a review aimed to determine whether there is evidence that education plays a key role in building sustainable health system and will allow better health and well-being for people with rare diseases to be achieved. This review shows evidence that providing quality education through different ways and actions the lives of people suffering from a rare disease and their families can be improved.


Assuntos
Assistência à Saúde/economia , Educação Médica/economia , Educação de Pacientes como Assunto/economia , Doenças Raras/terapia , Humanos , Saúde Pública
18.
Ann Ist Super Sanita ; 55(3): 270-275, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31553322

RESUMO

INTRODUCTION: Distribution of public spending on health depends on a variety of factors, from disease burden and system priorities to organisational aspects and costs. Nowadays, virtually all health care systems face serious sustainability challenges. This is particularly true for rare diseases, where priority setting involves complex and often controversial value-laden choices. METHOD: The theoretical framework underlying the approach of this work is based upon the State of Health in the EU, a two-year initiative undertaken by the European Commission and developed in cooperation with the Organisation for Economic Co-operation and Development and the European Observatory on Health Systems and Policies. RESULTS: The 2017 report identified five cross-cutting sustainability issues: health promotion and disease prevention, primary care, integrated care, health workforce planning and forecasting, person-centred health data.Implications and recommendations. Rare diseases have been one of the priorities of the Community's programmes for research and development. The EU has stimulated a series of actions in the field of rare diseases. These project activities could set up the practical cooperation and come up with the knowledge to translate and to work on the identified five key challenges of EU Member States health systems' sustainability and resilience.


Assuntos
Assistência à Saúde/economia , Doenças Raras/terapia , União Europeia , Humanos
19.
Ann Ist Super Sanita ; 55(3): 276-282, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31553323

RESUMO

The increasingly complex and multidimensional care request, combined with the presence of increasingly aware and demanding patients, accentuates the need for new strategies to preserve health systems economic sustainability. Therefore, integration mechanisms reveal an essential condition for ensuring continuity of care. The paper reviews the main literature available on the integration of heal services and relates it to rare diseases. The literature identifies several system levers for the effective design and implementation of integrated care frameworks, namely: political support and commitment, governance, stakeholder engagement, organisational change, leadership, collaboration and trust, workforce education and training, patient empowerment, financing and incentives, ICT infrastructure and solutions, monitoring and evaluation system.


Assuntos
Prestação Integrada de Cuidados de Saúde/organização & administração , Doenças Raras/terapia , Política de Saúde , Humanos
20.
Ann Ist Super Sanita ; 55(3): 283-291, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31553324

RESUMO

The notion of empowerment is linked to patients' everyday life and is the base allowing for the patient engagement through which individuals and communities are able to express their needs, are involved in decision-making, take action to meet those needs. In the field of rare diseases, empowerment strategies have greater value due to low prevalence, lack of expertise, poor quality of life. Avenues to patient empowerment are: health literacy and capacity-building; shared decision-making; support to self-management. Patient empowerment is recognised as key enabler in creating sustainability as addressing challenges faced by modern healthcare systems in terms of effectiveness, access and resilience. It is recommended to develop a comprehensive EU roadmap on patient empowerment including specific recommendations, taking stock of good practices. This holistic approach should lead to a society where all actors are fulfilled human beings and unmet needs are addressed in compliance with fundamental human rights.


Assuntos
Assistência à Saúde/organização & administração , Participação do Paciente , Doenças Raras/terapia , Humanos
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