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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Diagnostic Errors

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Disease relevance of Diagnostic Errors


High impact information on Diagnostic Errors

  • These secondary autonomic effects of epilepsy may lead to diagnostic errors if their cerebral origins are not suspected [5].
  • However, such a diagnostic error seems to have little effect, at least in the first year of therapy, on the effectiveness of GH treatment [6].
  • DNA-based detection of the MH status in 376 MH-susceptible heterozygous (N/n) and homozygous (n/n) pigs was shown to be accurate, eliminating the 5% diagnostic error that is associated with the halothane challenge test and flanking marker haplotyping procedures in current diagnostic use [7].
  • The combined reduction of DMD/BMD diagnostic error rate and familial recurrence could explain these results, providing the bases for a consistent redefinition of dystrophinopathy carrier frequency in the area considered [8].
  • The perceived clinical value of NMR measurements on biopsy specimens. Part I. Interval estimates of diagnostic error rates and a note on an effect of the law of small numbers [9].

Biological context of Diagnostic Errors


Associations of Diagnostic Errors with chemical compounds

  • The typical thymic appearance on CT and the chronologic relation to declining cortisol levels should prevent such diagnostic errors [11].
  • The occiput to C2 region was the most common site of diagnostic error [12].
  • Plasma noradrenaline and adrenaline measurements may be superior to measurements of urinary catecholamine metabolites, but strict attention to the details of sample collection, handling and storage, the many sources of possible biological variation and the effects of drugs is critical if diagnostic error is to be avoided [13].
  • Some laboratory tests used in anemia, particularly measurement of serum vitamin B12 and folate levels, may present problems in interpretation, which must be recognized if diagnostic errors are to be avoided [14].

Gene context of Diagnostic Errors

  • With the widespread availability of immunoperoxidase staining for LCA, this diagnostic error should be minimized [15].
  • The concordance limits indicate that Clamp and Min-Mod are not equivalent, which could result in diagnostic errors if the accepted cut-off point is used for both methods [16].
  • Latent class modeling approaches for assessing diagnostic error without a gold standard: with applications to p53 immunohistochemical assays in bladder tumors [17].
  • Iatrogenic harm caused by diagnostic errors in fibrodysplasia ossificans progressiva [18].
  • We conclude that laboratories are generally proficient in their testing for VWD and that diagnostic error rates are substantially reduced when test panels are more comprehensive and include the VWF:CB [19].


  1. Hypoglycemia: fact or fiction? Nelson, R.L. Mayo Clin. Proc. (1985) [Pubmed]
  2. 'Mucin-positive' epithelial mesothelioma of the peritoneum: an unusual diagnostic pitfall. Cook, D.S., Attanoos, R.L., Jalloh, S.S., Gibbs, A.R. Histopathology (2000) [Pubmed]
  3. Computed tomography and 67Ga citrate radionuclide imaging for evaluating suspected abdominal abscess. Levitt, R.G., Biello, D.R., Sagel, S.S., Stanley, R.J., Aronberg, D.J., Robinson, M.L., Siegel, B.A. AJR. American journal of roentgenology. (1979) [Pubmed]
  4. Pleurodesis in spontaneous pneumothorax by means of tetracycline. Follow-up evaluation of a method. Krasnik, M., Christensen, B., Halkier, E., Høier-Madsen, K., Jelnes, R., Wied, U. Scandinavian journal of thoracic and cardiovascular surgery. (1987) [Pubmed]
  5. Electrocardiographic accompaniments of temporal lobe epileptic seizures. Blumhardt, L.D., Smith, P.E., Owen, L. Lancet (1986) [Pubmed]
  6. Pitfalls in diagnosing impaired growth hormone (GH) secretion: retesting after replacement therapy of 63 patients defined as GH deficient. Cacciari, E., Tassoni, P., Parisi, G., Pirazzoli, P., Zucchini, S., Mandini, M., Cicognani, A., Balsamo, A. J. Clin. Endocrinol. Metab. (1992) [Pubmed]
  7. Cosegregation of porcine malignant hyperthermia and a probable causal mutation in the skeletal muscle ryanodine receptor gene in backcross families. Otsu, K., Khanna, V.K., Archibald, A.L., MacLennan, D.H. Genomics (1991) [Pubmed]
  8. Epidemiology of dystrophinopathies in North-West Tuscany: a molecular genetics-based revisitation. Siciliano, G., Tessa, A., Renna, M., Manca, M.L., Mancuso, M., Murri, L. Clin. Genet. (1999) [Pubmed]
  9. The perceived clinical value of NMR measurements on biopsy specimens. Part I. Interval estimates of diagnostic error rates and a note on an effect of the law of small numbers. Herbert, D.E. Magnetic resonance imaging. (1986) [Pubmed]
  10. Prenatal diagnosis of 21-hydroxylase deficiency caused by gene conversion and rearrangements: pitfalls and molecular diagnostic solutions. Mao, R., Nelson, L., Kates, R., Miller, C.E., Donaldson, D.L., Tang, W., Ward, K. Prenat. Diagn. (2002) [Pubmed]
  11. Rebound thymic hyperplasia after treatment of Cushing's syndrome. Doppman, J.L., Oldfield, E.H., Chrousos, G.P., Nieman, L., Udelsman, R., Cutler, G.B., Loriaux, D.L. AJR. American journal of roentgenology. (1986) [Pubmed]
  12. The misdiagnosis of acute cervical spine injuries and fractures in infants and children: the 12-year experience of a level I pediatric and adult trauma center. Avellino, A.M., Mann, F.A., Grady, M.S., Chapman, J.R., Ellenbogen, R.G., Alden, T.D., Mirza, S.K. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. (2005) [Pubmed]
  13. Phaeochromocytoma. Cryer, P.E. Clinics in endocrinology and metabolism. (1985) [Pubmed]
  14. Diagnosis of anemia. Clues to greater precision. Christensen, D.J. Postgraduate medicine. (1983) [Pubmed]
  15. Poorly differentiated carcinoma and germ cell tumors. Hainsworth, J.D., Greco, F.A. Hematol. Oncol. Clin. North Am. (1991) [Pubmed]
  16. Comparison of equivalence and determination of diagnostic utility of min-mod and clamp methods for insulin resistance in diabetes free subjects: a meta-analysis. Gordillo-Moscoso, A., Valadéz-Castillo, J.F., Mandeville, P.B., Hernández-Sierra, J.F. Endocrine (2004) [Pubmed]
  17. Latent class modeling approaches for assessing diagnostic error without a gold standard: with applications to p53 immunohistochemical assays in bladder tumors. Albert, P.S., McShane, L.M., Shih, J.H. Biometrics (2001) [Pubmed]
  18. Iatrogenic harm caused by diagnostic errors in fibrodysplasia ossificans progressiva. Kitterman, J.A., Kantanie, S., Rocke, D.M., Kaplan, F.S. Pediatrics (2005) [Pubmed]
  19. Laboratory diagnosis of von Willebrand disorder: use of multiple functional assays reduces diagnostic error rates. Favaloro, E.J., Bonar, R., Kershaw, G., Sioufi, J., Thom, J., Baker, R., Hertzberg, M., Street, A., Lloyd, J., Marsden, K. Laboratory hematology : official publication of the International Society for Laboratory Hematology. (2005) [Pubmed]
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