scholarly journals Update on a previously reported missense mutation: The c.1160 C>A mutation in the UGT1A1 gene result in Crigler–Najjar syndrome type 1

2021 ◽  
Author(s):  
Mohammad Javad Ghorbani ◽  
Seyed Mohsen Dehghani
Keyword(s):  
Missense Mutation ◽  
Syndrome Type ◽  
Ugt1a1 Gene

A Novel Missense Mutation of the Bilirubin UDP-Glucuronosyltransferase Gene in a Turkish Patient With Crigler-Najjar Syndrome Type 1

2003 ◽  
Vol 37 (5) ◽  
pp. 627-630 ◽  
Author(s):  
Yoshihiro Maruo ◽  
Erkin Serdaroglu ◽  
Masaru Iwai ◽  
Hiroko Takahashi ◽  
Asami Mori ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Syndrome Type ◽  
Turkish Patient ◽  
Udp Glucuronosyltransferase

A novel missense mutation Ile59Asn in the PAX3 in family with Waardenburg syndrome type 1

1999 ◽  
Vol 13 (1) ◽  
pp. 85-85
Author(s):  
T.G. Markova ◽  
S.P. Shevtsov ◽  
L.N. Moskolenko ◽  
A.A. Lantsov ◽  
E.I. Schwartz
Keyword(s):  
Missense Mutation ◽  
Syndrome Type ◽  
Waardenburg Syndrome

A novel missense mutation in exon 3 of the TRPS1 gene in a patient with a mild phenotype of tricho-rhino-phalangeal syndrome type 1

2018 ◽  
Vol 28 (2) ◽  
pp. 271-272
Author(s):  
Ryotaro Torai ◽  
Teruhiko Makino ◽  
Megumi Mizawa ◽  
Yutaka Shimomura ◽  
Tadamichi Shimizu
Keyword(s):  
Missense Mutation ◽  
Syndrome Type ◽  
Mild Phenotype

Challenges in the Diagnostic Conceptualization of CRPS-1 (Formerly Conceptualized as RSD)

2006 ◽  
Vol 11 (2) ◽  
pp. 1-3, 9-12
Author(s):  
Robert J. Barth ◽  
Tom W. Bohr
Keyword(s):  
Clinical Practice ◽  
Complex Regional Pain Syndrome ◽  
Somatoform Disorders ◽  
International Association ◽  
Pain Syndrome ◽  
Somatoform Disorder ◽  
Syndrome Type ◽  
Previous Issue

Abstract From the previous issue, this article continues a discussion of the potentially confusing aspects of the diagnostic formulation for complex regional pain syndrome type 1 (CRPS-1) proposed by the International Association for the Study of Pain (IASP), the relevance of these issues for a proposed future protocol, and recommendations for clinical practice. IASP is working to resolve the contradictions in its approach to CRPS-1 diagnosis, but it continues to include the following criterion: “[c]ontinuing pain, which is disproportionate to any inciting event.” This language only perpetuates existing issues with current definitions, specifically the overlap between the IASP criteria for CRPS-1 and somatoform disorders, overlap with the guidelines for malingering, and self-contradiction with respect to the suggestion of injury-relatedness. The authors propose to overcome the last of these by revising the criterion: “[c]omplaints of pain in the absence of any identifiable injury that could credibly account for the complaints.” Similarly, the overlap with somatoform disorders could be reworded: “The possibility of a somatoform disorder has been thoroughly assessed, with the results of that assessment failing to produce any consistencies with a somatoform scenario.” The overlap with malingering could be addressed in this manner: “The possibility of malingering has been thoroughly assessed, with the results of that assessment failing to produce any consistencies with a malingering scenario.” The article concludes with six recommendations, and a sidebar discusses rating impairment for CRPS-1 (with explicit instructions not to use the pain chapter for this purpose).

Management of Complex Regional Pain Syndrome Type 1 with Barbiturate Coma Therapy -A case report-

2006 ◽  
Vol 19 (2) ◽  
pp. 213
Author(s):  
Tae Kyu Park ◽  
Kyung Ream Han ◽  
Dong Wook Shin ◽  
Young Joo Lee ◽  
Chan Kim
Keyword(s):  
Case Report ◽  
Complex Regional Pain Syndrome ◽  
Pain Syndrome ◽  
Syndrome Type ◽  
Barbiturate Coma

Complex regional pain syndrome type 1 in young adults

2018 ◽  
Vol 60 (3) ◽  
pp. 78
Author(s):  
Yasin Demir ◽  
Ümüt Güzelküçük ◽  
Serdar Kesikburun ◽  
Berke Aras ◽  
Mehmet Ali Taşkaynatan ◽  
...  
Keyword(s):  
Young Adults ◽  
Complex Regional Pain Syndrome ◽  
Pain Syndrome ◽  
Syndrome Type
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