Allergy - current insights into prevention and diagnostic workup of immediate-type allergy and treatment of allergic rhinoconjunctivitis

2015 ◽  
Vol 13 (8) ◽  
pp. 747-764 ◽  
Author(s):  
Randolf Brehler ◽  
Benedikt Stöcker ◽  
Sonja Grundmann
Keyword(s):  
Allergic Rhinoconjunctivitis ◽  
Diagnostic Workup ◽  
Immediate Type Allergy

Danon Disease: Clinical Presentation and Diagnostic Workup in a Case of a Male Patient with a Novel Mutation in the LAMP2 Gene

2016 ◽  
Vol 47 (S 01) ◽  
Author(s):  
A. Dieckmann ◽  
F. Majer ◽  
H. Hulkova ◽  
M. Farr ◽  
T. Kalina ◽  
...  
Keyword(s):  
Male Patient ◽  
Clinical Presentation ◽  
Novel Mutation ◽  
Diagnostic Workup ◽  
Danon Disease ◽  
Lamp2 Gene

scholarly journals Adult-onset sporadic chorea: real-world data from a single-centre retrospective study

2021 ◽  
Author(s):  
Roberta Bovenzi ◽  
Matteo Conti ◽  
Rocco Cerroni ◽  
Mariangela Pierantozzi ◽  
Alessandro Stefani ◽  
...  
Keyword(s):  
Clinical Examination ◽  
Real World ◽  
Laboratory Tests ◽  
Clinical Course ◽  
Diagnostic Workup ◽  
Adult Onset ◽  
Real World Data ◽  
Term Outcome ◽  
Long Term Outcome ◽  
World Data

Abstract Background Adult-onset sporadic chorea includes a wide and heterogeneous group of conditions whose differential diagnosis and treatments are often challenging and extensive. Objectives To analyse retrospectively cases of adult-onset sporadic chorea from a single Italian centre to provide insights for a practical approach in the management of these patients. Methods A total of 11,071 medical charts from a 9-year period (2012–2020) were reviewed, identifying 28 patients with adult-onset sporadic chorea (genetic forms excluded). All available data regarding phenomenology, diagnostic workup, aetiology, treatments, and long-term outcome from this cohort were collected and analysed. Results Adult-onset sporadic chorea occurred more frequently in females and presented with an acute-subacute onset. Cerebrovascular diseases accounted for 68% of aetiology; further causes were structural brain lesions, internal diseases, and other movement disorder syndromes. Clinical course was mild, with spontaneous resolution or minimal disturbances in 82% of cases. Neuroimaging was fundamental to diagnose 76% of adult-onset sporadic chorea, an appropriate clinical examination contributed to the 14% of diagnoses, whereas basic laboratory tests to the 10%. Conclusions Revision of real-world data of adult-onset sporadic chorea patients from a single Italian cohort suggests that an accurate clinical examination, neuroimaging, and routine laboratory tests are useful to identify those cases underlying potentially severe but treatable conditions. Although in the majority of cases adult-onset sporadic chorea has mild clinical course and good response to symptomatic treatments, it is essential to run a fast diagnostic workup.

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