Zobrazeno 1 - 10
of 249
pro vyhledávání: '"Henry Rosenberg"'
Autor:
Stanley N. Caroff, Christopher B. Roberts, Henry Rosenberg, Joseph R. Tobin, Stacey Watt, Darlene Mashman, Sheila Riazi, Rosalind M. Berkowitz
Publikováno v:
BMC Anesthesiology, Vol 22, Iss 1, Pp 1-9 (2022)
Abstract Background Intravenous dantrolene is often prescribed for hypermetabolic syndromes other than the approved indication of malignant hyperthermia (MH). To clarify the extent of and indications for dantrolene use in conditions other than MH, we
Externí odkaz:
https://doaj.org/article/bd5522478214462f84e889f394e38c24
Publikováno v:
BMC Anesthesiology, Vol 20, Iss 1, Pp 1-9 (2020)
Abstract Background The cost-benefit of stocking dantrolene in maternity units for treating malignant hyperthermia (MH) has been recently questioned because of the low incidence of MH crisis in the general population and the low utilization of genera
Externí odkaz:
https://doaj.org/article/97042a18c15b404dae47f1b08dae0506
Autor:
Jennifer J Johnston, Robert T Dirksen, Thierry Girard, Phil M Hopkins, Natalia Kraeva, Mungunsukh Ognoon, K Bailey Radenbaugh, Sheila Riazi, Rachel L Robinson, Louis A Saddic, III, Nyamkhishig Sambuughin, Richa Saxena, Sarah Shepherd, Kathryn Stowell, James Weber, Seeley Yoo, Henry Rosenberg, Leslie G Biesecker
The ClinGen malignant hyperthermia susceptibility (MHS) variant curation expert panel specified the ACMG/AMP criteria for RYR1-related MHS and a pilot analysis of 84 variants was published. We have now classified an additional 251 variants for RYR1-r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ea3ac5967860f9b5cc51dddd7bc3bb5
https://doi.org/10.1101/2022.06.23.497341
https://doi.org/10.1101/2022.06.23.497341
Publikováno v:
Clinical Psychopharmacology and Neuroscience
Hyperthermia, or extreme elevations in body temperature, can be life-threatening and may be caused by prescription drugs or illegal substances acting at a number of different levels of the neuraxis. Several psychotropic drug classes and combinations
Autor:
Kathryn M. Stowell, Leslie G. Biesecker, James L. Weber, Robert T. Dirksen, Philip M. Hopkins, Sheila Riazi, Thierry Girard, Henry Rosenberg
Publikováno v:
Anesthesiology
Malignant Hyperthermia(MH) was described 60 years ago and our understanding of the clinical and pathophysiologic features of this syndrome continue to advance. MH is attributed to a genetically determined susceptibility to an abnormal skeletal muscle
Autor:
Jennifer Johnston, Robert Dirksen, Thierry Girard, Stephen Gonsalves, Phil Hopkins, Natalia Kraeva, Mungunsukh Ognoon, Bailey Radenbaugh, Sheila Riazi, Rachel Robinson, Nyamkhishig Sambuughin, Sarah Shepherd, Kathryn Stowell, James Weber, Seeley Yoo, Henry Rosenberg, Leslie Biesecker
Publikováno v:
Genetics in Medicine. 24:S229-S230
Autor:
Stephen G. Gonsalves, Robert T. Dirksen, Philip M. Hopkins, Richa Saxena, Leslie G. Biesecker, James L. Weber, Kathryn M. Stowell, Nyamkhishig Sambuughin, Sheila Riazi, Thierry Girard, Henry Rosenberg, Jennifer J. Johnston, Louis A. Saddic
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose As a ClinGen Expert Panel (EP) we set out to adapt the American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) pathogenicity criteria for classification of RYR1 variants as related to autosomal domin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bed287e0c2262ad26677ba75142cf389
Autor:
Robert T. Dirksen, Phil M. Hopkins, Louis A. Saddic, Henry Rosenberg, Stephen G. Gonsalves, Nyamkhishig Sambuughin, Sheila Riazi, Leslie G. Biesecker, Jennifer J. Johnston, Richa Saxena, James L. Weber, Kathryn M. Stowell, Thierry Girard
PurposePrevention of malignant hyperthermia (MH) requires an understanding of RYR1 variant pathogenicity to assess the risk of exposure to triggering agents. Personalized medicine, especially secondary findings and eventually genomic screening, will
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e5450551c1290c5106fd868f66907fbe
https://doi.org/10.1101/2020.11.29.402768
https://doi.org/10.1101/2020.11.29.402768
Publikováno v:
Anesthesia and analgesia. 129(5)
Publikováno v:
Journal of Clinical Anesthesia. 39:10-14
Study objective Malignant hyperthermia (MH) is a rare yet potentially fatal pharmacogenetic disorder triggered by exposure to inhalational anesthetics and the depolarizing neuromuscular blocking agent succinylcholine. Epidemiologic data on the geogra