Severe course with lethal hepatocellular injury and skeletal muscular dysgenesis in a neonate with infantile liver failure syndrome type 1 caused by novel LARS1 mutations

2020 ◽  
Author(s):  
Katsuya Hirata ◽  
Nobuhiko Okamoto ◽  
Chihiro Ichikawa ◽  
Shouta Inoue ◽  
Masatoshi Nozaki ◽  
...  
Keyword(s):  
Liver Failure ◽  
Syndrome Type ◽  
Hepatocellular Injury ◽  
Muscular Dysgenesis

scholarly journals Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS

2015 ◽  
Vol 38 (6) ◽  
pp. 1085-1092 ◽  
Author(s):  
Jillian P. Casey ◽  
Suzanne Slattery ◽  
Melanie Cotter ◽  
A. A. Monavari ◽  
Ina Knerr ◽  
...  
Keyword(s):  
Liver Failure ◽  
Syndrome Type ◽  
Genetic Characterisation ◽  
Recessive Mutations

scholarly journals Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

2020 ◽  
Vol 22 (11) ◽  
pp. 1863-1873 ◽  
Author(s):  
Dominic Lenz ◽  
Desirée E. C. Smith ◽  
Ellen Crushell ◽  
Ralf A. Husain ◽  
Gajja S. Salomons ◽  
...  
Keyword(s):  
Liver Failure ◽  
Genotypic Diversity ◽  
Syndrome Type ◽  
Phenotypic Spectrum

scholarly journals Severe Neonatal Manifestations of Infantile Liver Failure Syndrome Type 1 Caused by Cytosolic Leucine-tRNA Synthetase Deficiency

2018 ◽  
pp. 71-76 ◽  
Author(s):  
Christina Peroutka ◽  
Jacqueline Salas ◽  
Jacquelyn Britton ◽  
Juliet Bishop ◽  
Lisa Kratz ◽  
...  
Keyword(s):  
Liver Failure ◽  
Trna Synthetase ◽  
Syndrome Type ◽  
Synthetase Deficiency

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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