Literature DB >> 20418338

'Doctor Google' ending the diagnostic odyssey in lysosomal storage disorders: parents using internet search engines as an efficient diagnostic strategy in rare diseases.

Machtelt G Bouwman1, Quirine G A Teunissen, Frits A Wijburg, Gabor E Linthorst.   

Abstract

The expansion of the internet has resulted in widespread availability of medical information for both patients and physicians. People increasingly spend time on the internet searching for an explanation, diagnosis or treatment for their symptoms. Regarding rare diseases, the use of the internet may be an important tool in the diagnostic process. The authors present two cases in which concerned parents made a correct diagnosis of a lysosomal storage disorder in their child by searching the internet after a long doctor's delay. These cases illustrate the utility of publicly available internet search engines in diagnosing rare disorders and in addition illustrate the lengthy diagnostic odyssey which is common in these disorders.

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Mesh:

Year:  2010        PMID: 20418338     DOI: 10.1136/adc.2009.171827

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN: 0003-9888            Impact factor:   3.791


  14 in total

1.  Rare diseases in general practice: recognising the zebras among the horses.

Authors:  William Rh Evans; Imran Rafi
Journal:  Br J Gen Pract       Date:  2016-11       Impact factor: 5.386

2.  Perspective: The rare must become common.

Authors:  Marc C Patterson
Journal:  Nature       Date:  2016-09-22       Impact factor: 49.962

Review 3.  Glycan-based biomarkers for mucopolysaccharidoses.

Authors:  Roger Lawrence; Jillian R Brown; Fred Lorey; Patricia I Dickson; Brett E Crawford; Jeffrey D Esko
Journal:  Mol Genet Metab       Date:  2013-07-29       Impact factor: 4.797

4.  The diagnostic odyssey: insights from parents of children living with an undiagnosed condition.

Authors:  Alicia Bauskis; Cecily Strange; Caron Molster; Colleen Fisher
Journal:  Orphanet J Rare Dis       Date:  2022-06-18       Impact factor: 4.303

5.  Internet self-diagnosis in hand surgery.

Authors:  Michiel G J S Hageman; Jade Anderson; Robin Blok; Jeroen K J Bossen; David Ring
Journal:  Hand (N Y)       Date:  2015-09

6.  A European network of email and telephone help lines providing information and support on rare diseases: results from a 1-month activity survey.

Authors:  Francois Houyez; Rosa Sanchez de Vega; Tuy Nga Brignol; Monica Mazzucato; Agata Polizzi
Journal:  Interact J Med Res       Date:  2014-05-05

7.  Diagnostic needs for rare diseases and shared prediagnostic phenomena: Results of a German-wide expert Delphi survey.

Authors:  Susanne Blöß; Christian Klemann; Ann-Katrin Rother; Sandra Mehmecke; Ulrike Schumacher; Urs Mücke; Martin Mücke; Christiane Stieber; Frank Klawonn; Xiaowei Kortum; Werner Lechner; Lorenz Grigull
Journal:  PLoS One       Date:  2017-02-24       Impact factor: 3.240

8.  Common pre-diagnostic features in individuals with different rare diseases represent a key for diagnostic support with computerized pattern recognition?

Authors:  Lorenz Grigull; Sandra Mehmecke; Ann-Katrin Rother; Susanne Blöß; Christian Klemann; Ulrike Schumacher; Urs Mücke; Xiaowei Kortum; Werner Lechner; Frank Klawonn
Journal:  PLoS One       Date:  2019-10-10       Impact factor: 3.240

9.  Extent, impact, and predictors of diagnostic delay in Pompe disease: A combined survey approach to unveil the diagnostic odyssey.

Authors:  Florian B Lagler; Angelika Moder; Marianne Rohrbach; Julia Hennermann; Eugen Mengel; Seyfullah Gökce; Thomas Hundsberger; Kai M Rösler; Nesrin Karabul; Martina Huemer
Journal:  JIMD Rep       Date:  2019-07-17

10.  The internet user profile of Italian families of patients with rare diseases: a web survey.

Authors:  Alberto E Tozzi; Rita Mingarelli; Eleonora Agricola; Michaela Gonfiantini; Elisabetta Pandolfi; Emanuela Carloni; Francesco Gesualdo; Bruno Dallapiccola
Journal:  Orphanet J Rare Dis       Date:  2013-05-16       Impact factor: 4.123

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