Patients living with rare diseases have special common needs. Although the 5,000-6,000 rare diseases are very different, many patients share the experience of a time-consuming and sometimes frustrating journey towards diagnosis, the lack of established standards of care and foremost the search for competent physicians. Because of their complexity, rare diseases mostly demand an interdisciplinary and cross-sectional medical care. The model of the "patient-centred health-care value chain" explains how primary (prevention, diagnosis, treatment) and secondary activities (exchange of information, quality management, identification of unmet needs, research and development) contribute to the patient benefit applying a holistic approach. This model thereby prevents an isolated view from the perspective of single health-care providers. A survey to which 21 German patient-organisations in the rare-disease field contributed, was performed to obtain insight into preferred medical care concepts and preferences in the way that care is provided. The results clearly suggest that the patient organisations have a clear view on how disease-specific care should be delivered; however, in reality those preferences seem to be met to a minor extent in Germany at present. According to patient organisations, rare-disease patient care should always be a patient- centred, interdisciplinary and holistic effort. The solidaric health-care system in Germany provides an excellent basis for this kind of medical care. However, a new patient- rather than system-oriented approach is needed to make it work in reality.
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http://dx.doi.org/10.1007/s00103-007-0382-8 | DOI Listing |
Front Neurol
January 2025
Unidade Local de Saúde de São João, Porto, Portugal.
Background: Anti-CD20 monoclonal antibodies are a class of immunosuppressive drugs widely used in the treatment of central nervous system (CNS) inflammatory diseases, with well-established efficacy and safety. Although rare, these therapies can be associated with serious adverse events including hematological and infectious complications. This study aims to evaluate their safety and tolerability profile in real-world clinical practice.
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December 2024
Internal Medicine, Hospital Infante D. Pedro, Aveiro, PRT.
Platypnea-orthodeoxia syndrome (POS) is a rare clinical condition characterized by dyspnea and hypoxemia during orthostatism, with relief in the supine position. The diagnosis of POS requires a high clinical suspicion, and its etiology stems from the admixture of venous blood, poor in oxygen, with arterial blood via a shunt. A patent foramen ovale (PFO) is the most commonly encountered anomaly at the root of POS.
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December 2024
Graduate Medical Education, Eisenhower Health, Rancho Mirage, USA.
Autoimmune enteropathy (AIE) is a rare cause of chronic diarrhea associated with autoantibodies and susceptibility to other autoimmune diseases, such as rheumatoid arthritis, diabetes, autoimmune hemolytic anemia, and atopic dermatitis. While it is more common in children, the prevalence of AIE in adults is increasing. Due to the nonspecific nature of its presenting symptoms and the lack of consistent findings, AIE can be challenging to diagnose.
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December 2024
Family Medicine Alexandria, Louisiana State University Health Sciences Center, Alexandria, USA.
Coccidioidal meningitis is a rare yet life-threatening complication of disseminated infection, primarily affecting immunocompromised individuals. and are dimorphic fungi endemic to the southwestern United States, where exposure to inhaled spores can lead to a range of clinical manifestations, including pulmonary and central nervous system (CNS) involvement. This report describes the case of a 27-year-old correctional officer with advanced human immunodeficiency virus (HIV) infection who presented with chronic headaches, altered mental status, and significant weight loss following his relocation from Arizona to Louisiana.
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December 2024
Department of Oral Medicine, Nihon University School of Dentistry, Tokyo, JPN.
Calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia (CREST) syndrome, a systemic sclerosis subtype, features skin thickening, vascular issues, and organ involvement, causing complications in the gastrointestinal and musculoskeletal systems. Herein, we present a rare case of oral candidiasis, with CREST syndrome. The patient presented with xerostomia, tongue erythema, and burning pain.
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