41 min listen
all CAPS: A Story of Ice and Fire - Part 1
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Length:
32 minutes
Released:
Nov 7, 2019
Format:
Podcast episode
Description
This first episode delves into the clinical aspects of the Cryopyrin-Associated Periodic Syndromes and includes some helpful tips for sorting out some of the autoinflammatory diseases in the spectrum. Intro :10 Cryopyrin-Associated Periodic Syndromes (CAPS) :25 Outline of Part 1 2:25 What is CAPS? 3:12 Case #1 – a 25-year-old female with urticaria after cold exposure 4:25 Case #2 – a 55-year-old female with progressive deafness 5:45 The index case of familial cold autoinflammatory syndrome 9:00 The final disease in the spectrum 11:00 A lot of names for the same disease 13:50 Genetics prove these three diseases are in the same spectrum 14:22 Over 100 mutations have been found to-date 16:31 Let’s talk about mosaicism 17:03 Disease characteristics of CAPS 18:15 Neutrophilic infiltrate in chronic urticaria vs. CAPS 20:00 Schnitzler syndrome 20:45 Sensorineural hearing loss 21:58 Joint pain 24:10 Complication: Amyloidosis 25:29 These diseases were very debilitating 28:38 Episode recap 29:46 Part 2 sneak peek 30:38 Come say hi at ACR! 30:51 We’d love to hear from you! Send your comments/questions to rheuminationspodcast@healio.com. Follow us on Twitter @HRheuminations @AdamJBrownMD @HealioRheum References: Ahmadi N, et al. Otolaryngol Head Neck Surg. 2011;145:295-302. Aksentijevich I, et al. Arthritis Rheum. 2002;46:3340-3348. Alecu M, et al. Romanian Journal of Morphology and Embryology = Revue Roumaine de Morphologie et Embryologie. 2015;56:7-14. Hassink SG, Goldsmith DP. Arthritis Rheum. 1983;26:668–673. Hoffman HM, et al. Nat Genet. 2001;29:301-305. Hoffman HM, et al. J Allergy Clin Immunol. 2001;108:615-620. Kile RM, Rusk HA. JAMA. 1940;114:1067-1068. Levy R, et al. Ann Rheum Dis. 2015;74:2043-2049. Marzano AV, et al. Clin Exp Rheumatol. 2018;36 Suppl 110:32-38. Muckle TJ, Wells M. Q J Med. 1962;31:235-248. Prieur AM, Griscelli C. Rev Rhum Mal Osteoartic. 1980;47:645–649. Tran TA. Open Access Rheumatol. 2017;9:123-129.
Released:
Nov 7, 2019
Format:
Podcast episode
Titles in the series (80)
A Diagnosis Divided: A young woman presents with migraine-like headaches, black spots in her vision and emotional lability. Think you know the diagnosis? You may be surprised – this medical mystery is not what it seems. In this episode, learn more about this rare... by Healio Rheuminations