Is “associativism” good for one's health? The case of rare diseases

Resumo Baseado no questionamento “ O Mercado faz bem à Saúde? ” de um trabalho inspirador, este artigo realiza um questionamento semelhante, centrado no associativismo e no campo das doen ças raras. Partindo da pesquisa realizada no âmbito do Mestrado em Sociologia da Faculdade de Economia da Universidade de Coimbra, este texto coloca em perspectiva as formulações criadas para o campo das condições genéticas que, majoritariamente, partem de uma visão eurocentrista. Analisa-se o campo das doenças raras, identificando os papéis, as relações e as motivações dos diferentes atores, nomeadamente, associações civis, indústria farmacêutica, academia, governo e famílias. Da análise sobressai a preponderância do mercado e da produção de medicamentos, identificando- se um modelo de governação – Modelo Utilit ário de Cuidado – , no qual a pessoa que sofre e as suas fam ílias são esvaziadas da sua subjetividade e transmutadas em medicação e agentes de mercado.Abstract Based on the question of an inspiring work – “ Is the Market good for one's Health? ” , this paper poses a similar question, centered on “ associativism ” (belonging to a labor group or association) and the field of rare diseases. Starting from the resear...
Source: Ciencia e Saude Coletiva - Category: Occupational Health Source Type: research

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Source: Canadian Journal of Cardiology - Category: Cardiology Source Type: research
CONCLUSIONS Our study described rare diseases in Chinese patients and our results enrich the phenotype spectrum of related diseases, as well as mutation spectrum of related genes, which might be significant for clinical disease diagnosis and prenatal diagnosis. PMID: 31603145 [PubMed - in process]
Source: Medical Science Monitor - Category: Research Tags: Med Sci Monit Source Type: research
Authors: Horton R, Lucassen A Abstract Introduction: Clinical practice and research are traditionally seen as distinct activities that are governed by different principles and processes. Innovative technologies such as genomic testing challenge this model, involving many activities that cannot be easily categorized as purely research, or purely clinical care. Areas covered: We discuss the interdependence of research and clinical practice in the context of genomics, for example, when determining the significance of rare genetic variants, or diagnosing newly described rare diseases. We highlight the potential of the ...
Source: Expert Review of Molecular Diagnostics - Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research
Authors: Colbaugh R, Glass K, Rudolf C, Tremblay Volv Global Lausanne Switzerland M Abstract There is increasing interest in developing prediction models capable of identifying rare disease patients in population-scale databases such as electronic health records (EHRs). Deriving these models is challenging for many reasons, perhaps the most important being the limited number of patients with 'gold standard' confirmed diagnoses from which to learn. This paper presents a novel cascade learning methodology which induces accurate prediction models from noisy 'silver standard' labeled data - patients provisionally label...
Source: AMIA Annual Symposium Proceedings - Category: Bioinformatics Tags: AMIA Annu Symp Proc Source Type: research
We present a pragmatic approach to clinical trial design that may inform the approach to other rare disorders.
Source: Contemporary Clinical Trials - Category: Radiology Authors: Source Type: research
Testicular germ cell tumor (TGCT) is a relatively rare disease, accounting for nearly 1% of all cancers in men. The etiology of the disease may involve a series of complex epigenetic and genetic changes which may act synergistically and transform the primordial gonocyte. Interestingly, it is proposed that TGCTs do arise from the same cell, the primordial germ cell, sharing specific gene expression profiles and epigenetic patterns [1]. Once TGCT appear at a germ cell development time, in which a genome-wide methylation removal occurs, a malfunction in the reestablishment of these marks, could lead to incorrect epigenetic re...
Source: Cancer Genetics and Cytogenetics - Category: Genetics & Stem Cells Authors: Source Type: research
ConclusionMLL remains to be underdiagnosed. Due to the obesity epidemic, clinicians must be aware of this once rare disease. The role of concurrent bariatric surgery with surgical resection of MLL warrants further studies.
Source: Annals of Medicine and Surgery - Category: General Medicine Source Type: research
CONCLUSIONS: Mammography and ultrasound remain the leading modalities in breast imaging among males for diagnostic workup of palpable mass, with gynecomastia being the predominant diagnosis. However, presentation with palpable mass was also associated with malignancy. Despite a notable MBC rate in our cohort, the likelihood of cancer is low in young patients and in cases of gynecomastia. PMID: 31599508 [PubMed - in process]
Source: The Israel Medical Association Journal - Category: General Medicine Tags: Isr Med Assoc J Source Type: research
We report a case of emphysematous esophagitis and gastritis with complete affectation of the gastric and esophageal wall at diagnosis. Two surgical interventions were performed due to gastric perforation that was treated in both cases with primary closure. The post-operative recovery was satisfactory. Despite the large emphysematous esophago-gastritis affectation at diagnosis and the presence of gastric perforation, it is safe to perform the same management principles as with emphysematous gastritis. This should be as conservative as possible in case a surgical procedure is required. PMID: 31599641 [PubMed - as supplied by publisher]
Source: Revista Espanola de Enfermedades Digestivas - Category: Gastroenterology Tags: Rev Esp Enferm Dig Source Type: research
ConclusionsPOEM can be a new option for the treatment of esophageal movement disorders, but large sample, multi-center, long-term study reports are needed, and it promotes the development of NOTES technology.
Source: Esophagus - Category: Gastroenterology Source Type: research
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