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2.
Artigo em Russo | MEDLINE | ID: mdl-33901367

RESUMO

The article considers the results of legal regulation analysis of medical care support including medication maintenance of adult patients suffering from rare diseases exemplified by life-threatened and chronic progressed rare (orphan) diseases resulting in life expectancy decrease and or disability ("List-24"). MATERIALS AND METHODS: Law database was analyzed in terms of current orders of medical care provision, standards of medical care, and clinical guidelines for rare diseases from "List-24" regarding to adult patients. RESULTS: It is concluded that there are no determined rules of medical care provision to adult population in case of rare diseases from "List-24". There are standards of medical care on 6 rare diseases (25% of total diseases amount) from this list for adult patients. However, based on content analysis data of approved standards it was established that there are only 3 from 11 standards (27.28%) for primary medical care support, 4 standards (33.34%) for medical care provision in planned condition, and only 1 standard (9.09%) had appropriate legal basis for its development (clinical guidelines availability). Nevertheless, there is negative prognosis for this the only standard due to legal necessity of all clinical guidelines revision till the end of 2021. CONCLUSION: Revision and creation of clinical guidelines and standards of medical care afterwards are needed for adult patients treatment with rare diseases from "List-24". The conclusion was made in terms of medical care standardization improvement for adult patients suffering from rare diseases from "List-24" based on its alignment with current legal regulation.


Assuntos
Assistência ao Paciente , Doenças Raras , Adulto , Humanos , Atenção Primária à Saúde , Doenças Raras/terapia , Federação Russa
3.
Internist (Berl) ; 62(4): 441-448, 2021 Apr.
Artigo em Alemão | MEDLINE | ID: mdl-33687527

RESUMO

Patients with rare diseases often receive insufficient medical care. The European Reference Networks (ERNs) were initiated by the European Union to improve healthcare for patients with rare and complex diseases within Europe. The Reference Network on Hepatological Diseases (ERN RARE-LIVER), which consists of hepatological centres, scientific societies and numerous patient organizations, is one of 24 ERNs. The aim of ERN RARE-LIVER is high-quality healthcare for patients suffering from rare liver diseases, regardless of their place of residence. Standardization of treatment, coordination of research projects as well as training and teaching of patients, patient representatives and healthcare professionals are means to reach this goal. Virtual case discussions are offered via a web-based platform (Clinical Patient Management System), in which experts from the ERNs advise treating physicians on the diagnosis and therapy of rare diseases.


Assuntos
Assistência à Saúde , Doenças Raras , Europa (Continente) , Pessoal de Saúde , Humanos , Doenças Raras/diagnóstico , Doenças Raras/terapia
4.
Wien Med Wochenschr ; 171(5-6): 94-101, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33689085

RESUMO

Skeletal disorders are inherited disorders with significant skeletal involvement and most of them are rare or extremely rare. Based on the clinical, radiological and genetic phenotype, the group of skeletal disorder comprises more than 450 different and highly heterogeneous disorders. In skeletal disorders rapid and precise diagnoses are urgently needed for patient care and are based on the combination of clinical, radiological and genetic analysis. Novel genetic techniques have revolutionized diagnostics and have a huge impact on counseling of patients and families. Disease-specific long-term management in a multidisciplinary healthcare team in highly specialized centers is recommended to optimize care for these patients. Here we describe a multidisciplinary postnatal approach for the diagnosis and management of patients and families with rare skeletal disorders at the Vienna Bone and Growth Center. We discuss the value of a multidisciplinary diagnostic and management approach in the postnatal setting and provide a diagnostic flowchart for rare skeletal disorders.


Assuntos
Testes Genéticos , Doenças Raras , Humanos , Fenótipo , Doenças Raras/diagnóstico , Doenças Raras/terapia
5.
Internist (Berl) ; 62(5): 486-495, 2021 May.
Artigo em Alemão | MEDLINE | ID: mdl-33779789

RESUMO

Delineating the genetic background and the underlying pathophysiology of rare skeletal dysplasias enables a broader understanding of these disorders as well as novel perspectives regarding differential diagnosis and targeted development of therapeutic approaches. Hypophosphatasia (HPP) due to genetically determined Alkaline Phosphatase deficiency exemplifies this development. While an enzyme replacement therapy could be established for severe HPP with the prevailing bone manifestation, the clinical impact of not immediately bone-related manifestations just being successively understood. Correspondingly, the elucidation of the pathophysiology underlying renal phosphate wasting expanded our knowledge regarding phosphate metabolism and bone health and facilitated the development of an anti-FGF-23 Antibody for targeted treatment of X­linked Hypophosphatemia (XLH). Evolutions regarding the nosology of osteogenesis imperfecta (OI) along with the identification of further causative genes also detected in the context of genetically determined osteoporosis illustrate the pathophysiologic interrelation between monogenetic bone dysplasias and multifactorial osteoporosis. While current therapeutic strategies for OI follow osteoporosis treatment, the expanding knowledge about OI forms the fundament for establishing improved treatment strategies-for both OI and osteoporosis. Similar developments are emerging regarding rare skeletal disorders like Achondroplasia, Fibrodysplasia ossificans progressive and Morbus Morquio (Mukopolysaccharidosis Type IV).


Assuntos
Hipofosfatasia , Osteogênese Imperfeita , Osteoporose , Osso e Ossos , Humanos , Hipofosfatasia/diagnóstico , Hipofosfatasia/genética , Hipofosfatasia/terapia , Osteogênese Imperfeita/diagnóstico , Osteogênese Imperfeita/genética , Osteogênese Imperfeita/terapia , Doenças Raras/diagnóstico , Doenças Raras/terapia
6.
Value Health ; 24(3): 431-442, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33641778

RESUMO

OBJECTIVES: To analyze whether the adoption of a societal perspective would alter the results and conclusions of economic evaluations for rare disease-related healthcare technologies. METHODS: A search strategy involving all the active substances considered as orphan drugs by the European Medicines Agency plus a list of 76 rare diseases combined with economic-related terms was conducted on Medline and the Cost-Effectiveness Registry from the beginning of 2000 until November 2018. We included studies that considered quality-adjusted life years as an outcome, were published in a scientific journal, were written in English, included informal care costs or productivity losses, and separated the results according to the applied perspective. RESULTS: We found 14 articles that fulfilled the inclusion criteria. Productivity losses were considered in 12 studies, the human capital approach being the method most frequently used. Exclusively, informal care was considered in 2 articles, being valued through the opportunity cost method. The 14 articles selected resulted in 26 economic evaluation estimations, from which incremental cost-utility ratio values changed from cost-effective to dominant in 3 estimates, but the consideration of societal costs only modified the authors' conclusion in 1 study. CONCLUSIONS: The presence of societal costs in the economic evaluation of rare diseases did not affect the conclusions of the studies except in a single specific case. In those studies where the societal perspective was considered, we did not find significant changes in the economic evaluation results due to the higher costs of treatments and the low quality-adjusted life-years gained.


Assuntos
Efeitos Psicossociais da Doença , Análise Custo-Benefício/métodos , Doenças Raras/economia , Doenças Raras/terapia , Eficiência , Europa (Continente) , Humanos , Modelos Econômicos , Anos de Vida Ajustados por Qualidade de Vida
7.
BMC Med Inform Decis Mak ; 21(1): 65, 2021 02 18.
Artigo em Inglês | MEDLINE | ID: mdl-33602191

RESUMO

BACKGROUND: Rare Diseases (RDs) are difficult to diagnose. Clinical Decision Support Systems (CDSS) could support the diagnosis for RDs. The Medical Informatics in Research and Medicine (MIRACUM) consortium developed a CDSS for RDs based on distributed clinical data from eight German university hospitals. To support the diagnosis for difficult patient cases, the CDSS uses data from the different hospitals to perform a patient similarity analysis to obtain an indication of a diagnosis. To optimize our CDSS, we conducted a qualitative study to investigate usability and functionality of our designed CDSS. METHODS: We performed a Thinking Aloud Test (TA-Test) with RDs experts working in Rare Diseases Centers (RDCs) at MIRACUM locations which are specialized in diagnosis and treatment of RDs. An instruction sheet with tasks was prepared that the participants should perform with the CDSS during the study. The TA-Test was recorded on audio and video, whereas the resulting transcripts were analysed with a qualitative content analysis, as a ruled-guided fixed procedure to analyse text-based data. Furthermore, a questionnaire was handed out at the end of the study including the System Usability Scale (SUS). RESULTS: A total of eight experts from eight MIRACUM locations with an established RDC were included in the study. Results indicate that more detailed information about patients, such as descriptive attributes or findings, can help the system perform better. The system was rated positively in terms of functionality, such as functions that enable the user to obtain an overview of similar patients or medical history of a patient. However, there is a lack of transparency in the results of the CDSS patient similarity analysis. The study participants often stated that the system should present the user with an overview of exact symptoms, diagnosis, and other characteristics that define two patients as similar. In the usability section, the CDSS received a score of 73.21 points, which is ranked as good usability. CONCLUSIONS: This qualitative study investigated the usability and functionality of a CDSS of RDs. Despite positive feedback about functionality of system, the CDSS still requires some revisions and improvement in transparency of the patient similarity analysis.


Assuntos
Sistemas de Apoio a Decisões Clínicas , Hospitais , Humanos , Pesquisa Qualitativa , Doenças Raras/diagnóstico , Doenças Raras/terapia
10.
Cancer Radiother ; 25(2): 169-174, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33436284

RESUMO

Intramedullary spinal cord metastases (ISCM) is a rare, but devastating complication of malignant disease. Prognosis is poor, with an overall median survival (OS) of 4 months from the time of diagnosis. Yet, ISCMs are being increasingly diagnosed, related to advances and increased use of imaging and therapies that prolong survival in patients with cancer. Prompt and accurate diagnosis of ISCM is necessary for effective treatment, and magnetic resonance imaging (MRI) is the preferred imaging technique. The optimal management of these patients is controversial because of the multitude of clinical circumstances and the lack of controlled studies on the efficacy of the different therapeutic approaches. Increased awareness of this rare entity may lead to an earlier diagnosis at a stage when neurological deficits are reversible, and therefore, more effective palliation may be achieved. Therefore, we carried out this retrospective research of 3 observations of ISCM, associated with a detailed review of the literature describing the diagnostic, therapeutic and evolutionary characteristics of this special rare entity.


Assuntos
Adenocarcinoma/secundário , Carcinossarcoma/secundário , Doenças Raras/etiologia , Neoplasias da Medula Espinal/secundário , Adenocarcinoma/complicações , Adenocarcinoma/diagnóstico por imagem , Adenocarcinoma/terapia , Adulto , Neoplasias da Mama/patologia , Carcinossarcoma/complicações , Carcinossarcoma/diagnóstico por imagem , Carcinossarcoma/terapia , Detecção Precoce de Câncer , Evolução Fatal , Feminino , Humanos , Vértebras Lombares , Neoplasias Pulmonares/patologia , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Doenças Raras/diagnóstico por imagem , Doenças Raras/terapia , Estudos Retrospectivos , Neoplasias da Medula Espinal/complicações , Neoplasias da Medula Espinal/diagnóstico por imagem , Neoplasias da Medula Espinal/terapia , Vértebras Torácicas
11.
Int J Mol Sci ; 22(2)2021 Jan 12.
Artigo em Inglês | MEDLINE | ID: mdl-33445477

RESUMO

There is no single global definition of a rare disease, and for different geographical areas the definition is based on the disease occurrence in that population [...].


Assuntos
Biomarcadores , Doenças Raras/diagnóstico , Doenças Raras/etiologia , Doenças Raras/terapia , Gerenciamento Clínico , Suscetibilidade a Doenças , Humanos
12.
Cad Saude Publica ; 36(12): e00115720, 2020.
Artigo em Português | MEDLINE | ID: mdl-33331552

RESUMO

The article proposes to discuss the many complexities involved in the incorporation of new health technologies for rare diseases, with a central focus on the case of cystic fibrosis. Cystic fibrosis was chosen because it is a autosomal recessive genetic disorder, considered the most common of the rare diseases. The disease has also benefited greatly from investments in research in the field of molecular biology, mainly in the United States, but also among European research groups, which resulted in the registration and marketing of four new drugs. These new drugs act for the first time on the basic defect in cystic fibrosis. From a perspective that views rare diseases as a field of research woven among many others, the article aims to problematize cystic fibrosis from a more person-centered approach, the duality of witnessing from afar the molecularization of life, the emergence of last-generation drugs that interrupt, at the molecular level, the cascade of errors and thus the symptoms and evolution of the disease. The article aims to bring various elements to the debate that traverse the complex local reality of Brazilian cystic fibrosis patients in a global context of technological innovation and with a break in the treatment paradigm. Based on the field of rare diseases, including the presentation of cystic fibrosis in the age of precision medicine, alongside discussions on biopolitics in a context of health innovation and high-cost drugs, the article aims to shed light on the current challenges and possibilities.


Assuntos
Fibrose Cística , Brasil , Fibrose Cística/terapia , Regulador de Condutância Transmembrana em Fibrose Cística , Humanos , Medicina de Precisão , Doenças Raras/terapia
14.
Orphanet J Rare Dis ; 15(1): 228, 2020 08 31.
Artigo em Inglês | MEDLINE | ID: mdl-32867855

RESUMO

During the COVID-19 outbreak, the European Reference Network on Rare Bone Diseases (ERN BOND) coordination team and Italian rare bone diseases healthcare professionals created the "COVID-19 Helpline for Rare Bone Diseases" in an attempt to provide high-quality information and expertise on rare bone diseases remotely to patients and healthcare professionals. The present position statement describes the key characteristics of the Helpline initiative, along with the main aspects and topics that recurrently emerged as central for rare bone diseases patients and professionals. The main topics highlighted are general recommendations, pulmonary complications, drug treatment, trauma, pregnancy, children and elderly people, and patient associations role. The successful experience of the "COVID-19 Helpline for Rare Bone Diseases" launched in Italy could serve as a primer of gold-standard remote care for rare bone diseases for the other European countries and globally. Furthermore, similar COVID-19 helplines could be considered and applied for other rare diseases in order to implement remote patients' care.


Assuntos
Betacoronavirus , Doenças Ósseas/complicações , Infecções por Coronavirus/complicações , Pneumonia Viral/complicações , Doenças Raras/complicações , Consulta Remota/normas , Idoso , Algoritmos , Doenças Ósseas/terapia , Criança , Infecções por Coronavirus/prevenção & controle , Infecções por Coronavirus/terapia , Feminino , Humanos , Pandemias/prevenção & controle , Pneumonia Viral/prevenção & controle , Pneumonia Viral/terapia , Gravidez , Doenças Raras/terapia , Ferimentos e Lesões
16.
J Bras Nefrol ; 42(2 suppl 1): 36-40, 2020 Aug 26.
Artigo em Inglês, Português | MEDLINE | ID: mdl-32877497

RESUMO

During the Covid-19 pandemic, the issue is how to maintain adequate care for people with other diseases. In this document, the SBN Rare Diseases Committee (COMDORA) gives some guidelines on the care of patients with rare kidney diseases. These patients should follow the recommendations for the general population, bearing in mind that, as they have chronic kidney disease, they are included in the risk group for more serious outcomes if they develop Covid-19. Non-essential decision-making procedures should be postponed. In stable cases under appropriate treatment, we must choose to contact our patients remotely, using teleconsultations and home exam collections (if possible). In the presence of a symptom or sign of decompensation of the underlying disease, or infection with Sars-cov-2, advise the patient to seek medical assistance. The patient should not be waiting to get worse. Changes to the prescription should only be made on a scientific basis. Dosage suspension or change is not recommended, even in cases in which the patient needs to go to a center to receive his medication; in this case, the infusion center must follow the recommendations of the Ministry of Health. If the patient develops Covid-19 and uses any drugs, check the need for dose adjustment of the routine medications. Avoid the use of antimetabolics and anti-CD20 in patients with Covid-19, as they reduce viral clearance and predispose to bacterial infections. Contact between the patient and the medical team is essential; changes are recommended only with specialized medical guidance.


Assuntos
Betacoronavirus , Infecções por Coronavirus/epidemiologia , Nefropatias/terapia , Pneumonia Viral/epidemiologia , Doenças Raras/terapia , Brasil , Infecções por Coronavirus/diagnóstico , Infecções por Coronavirus/tratamento farmacológico , Interações Medicamentosas , Humanos , Pandemias , Aceitação pelo Paciente de Cuidados de Saúde , Pneumonia Viral/diagnóstico , Pneumonia Viral/tratamento farmacológico , Avaliação de Sintomas
17.
Rev. cuba. pediatr ; 92(3): e925, jul.-set. 2020. tab, graf
Artigo em Espanhol | LILACS, CUMED | ID: biblio-1126772

RESUMO

Introducción: La terapia física intensiva en enfermedades huérfanas, es un método para el tratamiento a pacientes con diferentes trastornos neurológicos, especialmente en la disfunción neuromuscular y musculo esquelética, como secuelas de las crisis metabólicas padecidas por una enfermedad neurodegenerativa que se caracteriza porque los afectados presentan un olor particular en la orina, semejante al jarabe de arce usado como alimento. Objetivo: Describir los resultados obtenidos a través de la aplicación de la terapia física intensiva en enfermedades huérfanas en un paciente. Presentación del caso: Niño de 9 años, con secuelas secundarias a la enfermedad neurodegenerativa citada. La evaluación inicial se realizó a través del índice de función motora GMFM 88-66, aplicado antes y después de cada intervención. El tratamiento consistió en el desarrollo del programa basado en la terapia física intensiva, en cuatro sesiones, durante cuatro semanas, cuatro horas por día, sin interrupción, con un total de 80 horas por cada intervención. Conclusiones: La terapia física intensiva en enfermedades huérfanas, proporciona cambios significativos en comparación con la fisioterapia tradicional. Combina varias técnicas fundamentadas en la base fisiológica del ejercicio, aumenta la posibilidad de mejoras en las secuelas a nivel motor en el caso de enfermedad neurodegenerativa y mejora la función motora gruesa en el niño. En general, se aprecian cambios en la evolución del paciente e impacto en el sistema musculo esquelético, disfunción neuromuscular y mejoría en su calidad de vida y clínica. Puede ser aplicable en otros niños con alteraciones motoras secundarias a enfermedades huérfanas o raras(AU)


Introduction: Intensive physical therapy in orphan diseases is a method for the treatment of patients with different neurological disorders, especially neuromuscular and skeletal muscle dysfunction as a consequence of metabolic crisis suffered due to a neurodegenerative disease which has as a characteristic that the patients present a particular smell in the urine, similar to the maple syrup used as food. Objective: To describe the results obtained through the use of intensive physical therapy in patients with orphan diseases. Case presentation: Nine years old boy with secondary sequelae of the above mentioned neurodegenerative disease. The initial evaluation was made with the index of motor function called GMFM 88-66 used before and after each intervention. The treatment involves the development of a program based in the intensive physical therapy in 4 sessions during 4 weeks and 4 hours each day, without stops and with a total of 80 hours per each intervention. Conclusions: Intensive physical therapy in orphan diseases provides significant changes in comparison with the traditional physiotherapy. It combines different techniques focused in the physiologic base of the exercises; in the case of neurodegenerative diseases, it increased the chances of improvement in the sequelaes of the motor level, and it improved the gross motor function in the boy. In general terms, there is evidence of changes in the evolution of the patient and impact in the skeletal muscle system, in the neuromuscular dysfunction and improvement in the clinical and life quality. This technique can be used in other children with motor disruptions secondary to orphan or rare diseases(AU)


Assuntos
Humanos , Masculino , Criança , Exercício Físico , Modalidades de Fisioterapia/normas , Doenças Raras/terapia , Desempenho Psicomotor/fisiologia
18.
Artigo em Inglês | MEDLINE | ID: mdl-32824597

RESUMO

Background: Increasing attention is being paid to improve the quality of life of patients with rare diseases in China. However, we are currently unaware of the problems encountered in the medical services of rare diseases from the viewpoints of doctors and patients. This study addressed the differences in the perceived barriers of diagnosis and treatments for rare diseases between doctors and patients in China. Methods: Two independent cross-sectional surveys on the perception of Chinese doctors' and patients' experiences with rare diseases were launched online between January and February 2018. A non-probability, convenience sampling method was employed to recruit participants. Results: In all, 45 rare diseases were reported by 139 doctors and 1853 patients. Patients with rare diseases faced significantly more difficulties in receiving accurate diagnosis (72.0%) and accessing information related to diagnosis and treatment (77.3%) as compared with doctors (34.5% and 40.3%, p < 0.0001, respectively). Specially, patients felt more difficulties than doctors in obtaining sustainable treatment for rare diseases (84.3% vs. 49.6%, p < 0.001). A higher percentage of patients (58.7%) than that of doctors (39.1%) had concerns in terms of the affordability of drugs. Further, 66.3% patients claimed that the drugs used to treat their conditions were not covered by their current medical insurances, whereas only 21.6% for doctors (p < 0.0001). Moreover, 35.3% of doctors responded that they recommended patients to visit the specialist they knew or were acquainted with, whereas 30.0% of patients said that their doctors chose to treat them based on their past experiences (p < 0.001). Conclusion: The perceived experience of patients with regard to diagnosis and treatment was significantly different from that of doctors. An integrated medical service platform should be established to facilitate better communication and mutual understanding of rare diseases between patients and doctors.


Assuntos
Qualidade de Vida , Doenças Raras , Adolescente , Adulto , Idoso , China , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Raras/diagnóstico , Doenças Raras/terapia , Inquéritos e Questionários , Adulto Jovem
19.
Ann Hematol ; 99(9): 1967-1977, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32621178

RESUMO

Thalassemia is characterized by a defect in the synthesis of one or more of the globin subunits of hemoglobin. This defect results in imbalance in the α/ß-globin chain ratio, ineffective erythropoiesis, chronic hemolytic anemia, and iron overload. With advances in diagnosis, treatment, and transfusion support, the prognosis of patients with thalassemia has improved over the past few decades. An increasing number of patients with thalassemia is living with long-term complications, including cardiomyopathy, chronic liver disease, endocrinopathy, and infections. In this paper, we review common complications that bring the patient with thalassemia to urgent or emergent medical attention. We also discuss the aspects of emergency care that are most relevant while caring for the patient with thalassemia in the emergency department.


Assuntos
Serviços Médicos de Emergência/tendências , Serviço Hospitalar de Emergência/tendências , Doenças Raras/diagnóstico por imagem , Doenças Raras/terapia , Talassemia/diagnóstico por imagem , Talassemia/terapia , Betacoronavirus , Transfusão de Sangue/métodos , Transfusão de Sangue/tendências , Cardiomiopatias/diagnóstico por imagem , Cardiomiopatias/epidemiologia , Cardiomiopatias/terapia , Infecções por Coronavirus/diagnóstico por imagem , Infecções por Coronavirus/epidemiologia , Infecções por Coronavirus/terapia , Diagnóstico Diferencial , Serviços Médicos de Emergência/métodos , Humanos , Hepatopatias/diagnóstico por imagem , Hepatopatias/epidemiologia , Hepatopatias/terapia , Pandemias , Pneumonia Viral/diagnóstico por imagem , Pneumonia Viral/epidemiologia , Pneumonia Viral/terapia , Doenças Raras/epidemiologia , Talassemia/epidemiologia
20.
Health Qual Life Outcomes ; 18(1): 177, 2020 Jun 10.
Artigo em Inglês | MEDLINE | ID: mdl-32522194

RESUMO

BACKGROUND: Rare diseases may be life-threatening or chronically debilitating conditions. Patient care needs are often complex and challenging to coordinate and deliver effectively. Rare diseases and their clinical management may therefore substantially impact on patients' health-related quality of life (HRQOL). The use of patient-reported outcome measures (PROMs) may complement clinical assessments by elucidating patients' perspectives on their health status and care priorities. This study explored the opinions of patients and clinicians on the use of PROMs in the management of patients with rare diseases in routine clinical practice. METHODS: A total of 15 semi-structured one-to-one interviews were conducted with four patients with primary sclerosing cholangitis (PSC); five renal transplant recipients; and six PSC doctors from University Hospitals Birmingham (UHB) NHS Foundation Trust. A focus group session was also conducted with 10 clinical staff members (doctors, nurses and other allied health professionals from UHB). The suitability and acceptability of the Chronic Liver Disease Questionnaire (CLDQ) and the Short Form 12 (SF12) were assessed by patients with PSC and their doctors while the Paediatric quality of life inventory Transplant Module (PedsQL-TM) and the EuroQoL-5 dimensions (EQ. 5D) were evaluated by the renal transplant recipients and their doctors. The discussions were audio recorded and transcribed verbatim. Coding of the transcripts was done using the Nvivo 11 Plus software. Thematic analysis was conducted to identify the main themes and subthemes. RESULTS: Four themes were identified, namely: (i) potential benefits of PROMs in the management of rare diseases; (ii) views on selected questionnaires; (iii) practical considerations for implementation; and (iv) potential facilitators and barriers of implementation. Patients and clinicians suggested that the use of ePROMs may facilitate patient-centred care by promoting patient-clinician communication, highlighting aspects of HRQOL that are important to patients and encouraging patient involvement in their care. They also felt that the disease-specific CLDQ and PedsQL-TM were more relevant than the generic SF12 and EQ-5D. CONCLUSIONS: Patients with rare diseases often experience impaired HRQOL. The use of an ePROM system may enhance the routine management of patients with rare diseases.


Assuntos
Medidas de Resultados Relatados pelo Paciente , Qualidade de Vida , Doenças Raras/psicologia , Feminino , Grupos Focais , Humanos , Masculino , Pesquisa Qualitativa , Doenças Raras/terapia
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