+ Resolve Article
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter

+ Translate
+ Subscribe to Site Feed
GeoScience Most Shared ContentMost Shared Content

Diagnosis: not more than an agreement on disease entity

, : Diagnosis: not more than an agreement on disease entity. Nederlands Tijdschrift Voor Geneeskunde 146(36): 1672-1674

Once a hereditary disorder has been linked to a gene mutation, it is not uncommon to observe that patients with the mutation have a wider range of clinical features than was previously anticipated. This is the case with Friedreich's syndrome, of which the characteristic signs used to be progressive cerebellar ataxia and areflexia, with onset at an early age. Now that the causative mutation has been established, it also appears to be expressed as an 'atypical' disease, with a later onset, piramidal signs at an early stage, and retained tendon jerks. Diseases are defined according to a variety of criteria: cause, (patho)morphological findings, (patho)physiological changes observed by physicians, or subjective impressions by patients. The growth of biomedical knowledge often leads to diseases being redefined. Diseases are not independent entities but human constructions.


PMID: 12244769

Other references

Bowers M.A., 1984: Patterns and processes in 3 guilds of terrestrial vertebrates. Strong, Dr. Et Al (ed.). Ecological Communities: Conceptual Issues And The Evidence; Meeting, Wakulla Springs, Fla., Usa, Mar. 11-13, . Xiii 613p. Princeton University Press: Princeton, N.j., Usa. Illus. 282-296

Sorensen, J.A.; Choi, C.; Fanuscu, M.I.; Mito, W.T., 1998: IPS Empress crown system: three-year clinical trial results. The IPS Empress system is a highly esthetic hot pressed glass ceramic material for fabrication of single crowns. Adhesive cementation of the system not only contributes to the esthetics but is necessary for increased strength of the crown. The pur...

Peng, B.; Tang, F.; Chen, D.; Ren, X.; Meng, X.; Ren, J., 2008: Preparation of PS/TiO2/UF multilayer core-shell hybrid microspheres with high stability. In this paper, we report a facile method for preparation of polystyrene/titania/urea-formaldehyde resin (PS/TiO(2)/UF) multilayer core-shell hybrid microspheres with high stability through in situ condensation polymerization. The TEM images show t...

Lobel, B.; Cipolla, B.; Erlich, N.; Guille, F.; Staerman, F.; Corbel, L.; Goldwasser, B., 1993: The effect of high energy shock-waves on benign prostatic hypertrophy. Journal of Endourology 7(SUPPL 1): S207

Siddiqui, O.; Kashanianfard, M.; Ramahi, O., 2015: Dielectric sensors based on electromagnetic energy tunneling. We show that metallic wires embedded in narrow waveguide bends and channels demonstrate resonance behavior at specific frequencies. The electromagnetic energy at these resonances tunnels through the narrow waveguide channels with almost no propaga...

Fu, X.; Sun, H.; Klein, W.H.; Mu, X., 2006: Beta-catenin is essential for lamination but not neurogenesis in mouse retinal development. During vertebrate retinal development, the seven retinal cell types differentiate sequentially from a single population of retinal progenitor cells (RPCs) and organize themselves into a distinct laminar structure. The purpose of this study was to...

Nagahata, H.; Hagiwara, K.; Higuchi, H.; Kirisawa, R.; Iwai, H., 2002: Analysis of serum cytokine profile in a holstein heifer with leukocyte adhesion deficiency which survived for long period. Serum cytokine levels and their expression of mRNA on neutrophils from a bone marrow (BM) transplanted heifer with leukocyte adhesion deficiency were evaluated. The clinical condition of the affected heifer was relatively stable after BM-transplan...

Kim, G.; Chung, S.; Lee, C., 2007: Water quality of runoff from agricultural-forestry watersheds in the Geum River Basin, Korea. Forestry and agricultural land uses constitute 85% of Korea and these land uses are typically mixed in many watersheds. Land cover is one of the most important factors affecting diffuse pollution and water quality. The aim of this study is to esti...

Mitchell, M.D.; Trautman, M.S.; Dudley, D.J., 1993: Immunoendocrinology of preterm labour and delivery. Bailliere's Clinical Obstetrics and Gynaecology 7(3): 553-575

Kaarina Kauhala, Anna Ihalainen, 2014: Impact of landscape and habitat diversity on the diversity of diets of two omnivorous carnivores. The impact of landscape and habitat diversity on diets of invasive and native species is an important issue when planning management or conservation of wildlife. The aim of the present study was to examine the impact of the environment on the diet...