Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0277787 (stigma)
 13,352 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Such is the ability of leprosy to generate misconceptions and fears, that many patients are reluctant to be identified. Deformity and paralysis which may occur compound the stigma attached to this rare disease of slow insidious onset. Epidemiological studies of leprosy refer only to known disease and often to highly selected groups of the population. Cohorts are therefore incomplete, and variations in prevalence may reflect social attitudes and data reliability. This paper describes the demographic and spatial distribution of leprosy in Lamjung, a district of west central Nepal. Variations in known leprosy prevalence between sexes, ethnic groups and areas are related to social and physical factors. An apparent paradox of low leprosy prevalence in an ethnic group with a high proportion of infectious leprosy is associated with adverse social attitudes and poor survey coverage. Although the data are too limited for an epidemological analysis variations associated with social and physical factors have crucial implications for disease control.
 ...
PMID:Social factors and leprosy in Lamjung, West Central Nepal: implication for disease control. 692 45

This focus group study explored the social interaction experiences and strategies of 12 adults with Moebius Syndrome, a rare congenital condition characterized by facial paralysis. Content analysis revealed five themes of social functioning: social engagement/disengagement; resilience/sensitivity; social support/stigma; being understood/misunderstood; and public awareness/lack of awareness of Moebius Syndrome. Participants used compensatory expressive strategies such as vocal tone, gestures, and humor. The combination of being unable to express oneself with the face, having a facial difference, and having a rare disease is particularly stigmatizing. Increasing public awareness and developing social skills programs for people with facial paralysis could facilitate social functioning.
 ...
PMID:Social interaction experiences of adults with Moebius Syndrome: a focus group. 2225 65

The second workshop on "Research on Economy And Social Exclusion (REASE)" was held in the University of Tokyo on January 26, 2013. Focusing on rare diseases and disorders in China, three speakers from China introduced the current status of rare diseases and the challenge of support organizations for patients with rare disease and disorders in China, and especially pointed out some important issues associated with rare diseases and disorders in China. From the viewpoint of economics, this paper discusses some of the important issues of rare diseases and disorders in China raised in this workshop, especially from the aspects of economy of scale and orphan drugs, and the emergence of stigma from discrimination. It was shown that international coordination and cooperation are called for in order to give a proper incentive to the drug industries to create new drugs for rare diseases, and suggested that an important step toward inclusion is to reduce stigma by making rare diseases visible as much as possible.
...
PMID:Research on economy and social exclusion: China dolls and rare diseases. 2534 98

Syphilis is one of the oldest described infectious diseases in the world and is caused by the spirochete bacterium Treponema pallidum [1]. Although now a rare disease, incidence is increasing with the number of diagnoses of the disease rising in England from 1688 to 2713 between 2003 and 2012 (a 61% increase)[2]. Major outbreaks of syphilis have been documented in London, Manchester, Dublin, and Brighton particularly among men who have sex with men (MSM)[3]. Diagnosis remains difficult on account of multi-system symptoms, duration of the condition, and social stigma.
 ...
PMID:Neurosyphilis Presenting with Papillitis. 3075 69

Germline mutations in the cylindromatosis gene (CYLD) are associated with a rare autosomal dominant disease known as CYLD cutaneous syndrome (CCS). Patients present multiple neoplasms originating from skin appendages. Here, we investigated the main clinical and molecular features of a large family with CCS having lived in a small Brazilian town for 6 generations, making its prevalence significantly high. We observed a predominance of the disease among males and a wide phenotypic variation. A high frequency of basal cell carcinomas among affected people was found. The mutation c.2806C>T, p.Arg936* in the CYLD gene was detected in all patients. In this work, a geographical cluster of CCS was found, which raised some community genetics issues related not only to the high prevalence of a rare disease in a limited area but also to the strong social stigma associated with the disease.
 ...
PMID:A large family with CYLD cutaneous syndrome: medical genetics at the community level. 3179 33

Overdiagnosis is the detection of a disease that does not do any harm to the patient throughout the lifetime. Thyroid cancer in children is a rare disease; however, since 2011, many children in Fukushima, Japan, have been diagnosed with it, and the number has shown a steady increase to over 200 cases at present. Some experts have stated that this phenomenon is due to overdiagnosis caused by thyroid ultrasound (US)-based thyroid screening detecting self-limiting thyroid cancer, which will not lead to clinical symptoms in the future. Harm caused by overdiagnosis of thyroid cancer is more serious in the young, since it is difficult to perform active surveillance and children diagnosed with cancer are likely to suffer from stigma. Thus, overdiagnosis of thyroid cancer in the young is not only a health problem but also a problem of human rights. Conflicts of interest among people related to screening programs and some experts with incomplete knowledge on overdiagnosis help to spread misleading opinions together with fear of radiation exposure among residents, which has led to their erroneous understanding of the nature of US-based thyroid screening. Scientific and honest discussions among experts to enhance education of residents and consideration of medical ethics are crucial to prevent the expansion of overdiagnosis.
 ...
PMID:Overdiagnosis of Juvenile Thyroid Cancer. 3251 65