Rare Disease
Can a decision support system accelerate rare disease diagnosis? Evaluating the potential impact of Ada DX in a retrospective study
... of rare diseases are not well ...Overall, rare disease diagnosis presents itself as a cognitive chal- lenge due to a combination of factors that characterize rare diseases and limitations of ...
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Model consent clauses for rare disease research
... the rare disease research context, however, consent processes have become complex in the current landscape of technological and genomic ad- vances, along with the extensive collection, pooling and ...
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State of rare disease management in Southeast Asia
... of rare disease ...for rare dis- eases, a trend apparently replicated in Southeast ...a rare disease national plan (the Philippines) or are in the process of drafting one ...
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Development of the parental needs scale for rare diseases: a tool for measuring the supportive care needs of parents caring for a child with a rare disease
... of rare diseases to gain further insights into their needs in caring for their ...a rare disease); practicalities of care (which describes the daily care challenges of these parents); and ...
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Development of a pilot rare disease registry: a focus group study of initial steps towards the establishment of a rare disease ecosystem in Slovenia
... According to rough estimates, there are approximately 150,000 rare disease (RD) patients in Slovenia [1, 2]. Despite the absence of accurate epidemiological data on the status of RDs, the above-mentioned ...
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The involvement of patient organisations in rare disease research: a mixed methods study in Australia
... to rare disease research, and not merely through ...a rare disease and they can therefore help researchers overcome the difficulty and high cost of accessing study participants, patient data ...
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Case Report Erdheim-Chester Disease with Involvement of Axial Skeleton: A Rare Presentation of Rare Disease
... Erdheim-Chester disease (ECD) is a non-Langerhans cell systemic histiocytosis with an unknown etiology and ...Erdheim-Chester disease (ECD) on the basis of clinical , radiological and histopathological ...
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Langerhans cell histiocytosis presenting as isolated central diabetes insipidus in a 2-year-old child: a rare manifestation of rare disease
... The prognosis for LCH varies on the form of the disease (SS-LCH vs. MS-LCH), its location and response to chemotherapy. Unifocal LCH involving bone or an isolated skin lesion, have good prognosis. However, ...
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RABIES: A RARE DISEASE BUT A SERIOUS PEDIATRIC PROBLEM
... Laboratory tests for the diagnosis of bies in the human prior to death are not re- liable. An indirect serum test for rabies an- tibodies collected on the day of admission was negative f[r] ...
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Rare diseases website Developing the Parent to Parent Content of a Rare Disease Website in Ireland
... Online communication also provides the critical mass of people needed for support for parents and facilitates finding information about rare conditions. Glenn (2015 p.18) describes findings from her study which ...
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ApreciseKUre: an approach of Precision Medicine in a Rare Disease
... kidney disease [9]. CysC appears to have the advantages of being independent of gender and muscle mass, thus it is used in assays for the measurements of the glomerular filtration rate excretion (eGFR) [10, 11]. ...
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Second generation registry framework
... Results: This paper introduces our second generation open source registry framework which builds on our previous rare disease registry framework (RDRF). This second generation RDRF is a new approach as it ...
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Assessing a possible vulnerability to dental caries in individuals with rare genetic diseases that affect the skeletal development
... Data collection involved oral examinations of the partici- pants and the administration of a questionnaire to parents/ caregivers addressing sociodemographic and behavioral as- pects of the participants (based on ...
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Bilateral desmoid tumor of the breast: case series and literature review
... extremely rare, there is another very rare disease of the breast reported, which is myofibroblastoma of the ...a rare benign mesenchymal lesion that is similar to solitary fibrous tumor, ...
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ORPHAN DRUGS AND HIGH COST MEDICATIONS: CHALLENGES AND SOLUTIONS
... other rare diseases in the pipeline and other alternative funding sources are ...A Rare Disease and Orphan Drug Act is urgently needed in Malaysia to facilitate adequate funding for treatment of ...
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Health service security of patients with 8 certain rare diseases: evidence from China’s national system for health service utilization of patients with healthcare insurance
... on rare dis- eases, it is generally believed that even the rarity of each rare disease, the huge kinds and population with differ- ent rare disease sum up as a group making rare ...
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Idiopathic non-cirrhotic portal hypertension: a review
... a rare disease characterized of intrahepatic portal hypertension in the absence of cirrhosis or other causes of liver disease and splanchnic venous ...s disease, ...Turner disease) and ...
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A comparison of interventional clinical trials in rare versus non-rare diseases: an analysis of ClinicalTrials.gov
... of rare and non-rare trials relied on conditions being submitted as MeSH ...11,959 rare disease terms identified, we could only match 54% to MeSH ...
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Telephone health services in the field of rare diseases: a qualitative interview study examining the needs of patients, relatives, and health care professionals in Germany
... Background: Rare diseases are, by definition, very serious and chronic diseases with a high negative impact on quality of ...with rare diseases. The resulting high disease burden triggers health ...
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CLINICAL CHARACTERISTICS,ECHOCARDIOGRAPHIC PROFILE AND OUTCOME OF PERIPARTUM CARDIOMYOPATHY AT BPKIHS, A TERTIARY CARE HOSPITAL IN NEPAL
... Peripartum cardiomyopathy (PPCM) is a pregnancy associated myocardial disease, reported to occur in different parts of the world. 1 It is a rare disease entity of unknown aetiology. High rates of ...
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