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Page 1
Code ICH: A Call to Action.
Li Q, Yakhkind A, Alexandrov AW, Alexandrov AV, Anderson CS, Dowlatshahi D, Frontera JA, Hemphill JC, Ganti L, Kellner C, May C, Morotti A, Parry-Jones A, Sheth KN, Steiner T, Ziai W, Goldstein JN, Mayer SA. Li Q, et al. Stroke. 2024 Feb;55(2):494-505. doi: 10.1161/STROKEAHA.123.043033. Epub 2023 Dec 15. Stroke. 2024. PMID: 38099439 Review.
Based on current evidence, we advocate for the widespread adoption of an early bundle of care for patients with intracerebral hemorrhage focused on time-based metrics for blood pressure control and emergency reversal of anticoagulation, with the goal of optimizing the benefit of …
Based on current evidence, we advocate for the widespread adoption of an early bundle of care for patients with intracerebral hemorrhage foc …
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.
Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN; ClinGen Hearing Loss Clinical Domain Working Group. Oza AM, et al. Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630. Hum Mutat. 2018. PMID: 30311386 Free PMC article.
Of the 51 variants evaluated in the pilot, 37% (19/51) changed category based upon application of the expert panel specified rules and/or aggregation of evidence across laboratories. These HL-specific ACMG/AMP rules will help standardize variant interpretation, ultimately …
Of the 51 variants evaluated in the pilot, 37% (19/51) changed category based upon application of the expert panel specified rules and/or ag …
Efficacy and Safety of NVX-CoV2373 in Adults in the United States and Mexico.
Dunkle LM, Kotloff KL, Gay CL, Áñez G, Adelglass JM, Barrat Hernández AQ, Harper WL, Duncanson DM, McArthur MA, Florescu DF, McClelland RS, Garcia-Fragoso V, Riesenberg RA, Musante DB, Fried DL, Safirstein BE, McKenzie M, Jeanfreau RJ, Kingsley JK, Henderson JA, Lane DC, Ruíz-Palacios GM, Corey L, Neuzil KM, Coombs RW, Greninger AL, Hutter J, Ake JA, Smith K, Woo W, Cho I, Glenn GM, Dubovsky F; 2019nCoV-301 Study Group. Dunkle LM, et al. N Engl J Med. 2022 Feb 10;386(6):531-543. doi: 10.1056/NEJMoa2116185. Epub 2021 Dec 15. N Engl J Med. 2022. PMID: 34910859 Free PMC article. Clinical Trial.
Clinical trial design in the neurocritical care unit.
Hall CE, Mirski M, Palesch YY, Diringer MN, Qureshi AI, Robertson CS, Geocadin R, Wijman CA, Le Roux PD, Suarez JI; First Neurocritical Care Research Conference Investigators. Hall CE, et al. Neurocrit Care. 2012 Feb;16(1):6-19. doi: 10.1007/s12028-011-9608-6. Neurocrit Care. 2012. PMID: 21792753 Review.
Fundamental in the Neurocritical Care Society's mission is to promote Quality Patient Care by identifying and implementing best medical practices for acute neurological disorders that are consistent with the current scientific knowledge. The next logical step will be to fo …
Fundamental in the Neurocritical Care Society's mission is to promote Quality Patient Care by identifying and implementing best medical prac …
Bumped Kinase Inhibitors as therapy for apicomplexan parasitic diseases: lessons learned.
Choi R, Hulverson MA, Huang W, Vidadala RSR, Whitman GR, Barrett LK, Schaefer DA, Betzer DP, Riggs MW, Doggett JS, Hemphill A, Ortega-Mora LM, McCloskey MC, Arnold SLM, Hackman RC, Marsh KC, Lynch JJ, Freiberg GM, Leroy BE, Kempf DJ, Choy RKM, de Hostos EL, Maly DJ, Fan E, Ojo KK, Van Voorhis WC. Choi R, et al. Int J Parasitol. 2020 May;50(5):413-422. doi: 10.1016/j.ijpara.2020.01.006. Epub 2020 Mar 26. Int J Parasitol. 2020. PMID: 32224121 Free PMC article. Review.
Bumped Kinase Inhibitors, targeting Calcium-dependent Protein Kinase 1 in apicomplexan parasites with a glycine gatekeeper, are promising new therapeutics for apicomplexan diseases. Here we will review advances, as well as challenges and lessons learned regarding efficacy, …
Bumped Kinase Inhibitors, targeting Calcium-dependent Protein Kinase 1 in apicomplexan parasites with a glycine gatekeeper, are promising ne …
Smartphone-enabled optofluidic exosome diagnostic for concussion recovery.
Ko J, Hemphill MA, Gabrieli D, Wu L, Yelleswarapu V, Lawrence G, Pennycooke W, Singh A, Meaney DF, Issadore D. Ko J, et al. Sci Rep. 2016 Aug 8;6:31215. doi: 10.1038/srep31215. Sci Rep. 2016. PMID: 27498963 Free PMC article.
A major impediment to improving the treatment of concussion is our current inability to identify patients that will experience persistent problems after the injury. Recently, brain-derived exosomes, which cross the blood-brain barrier and circulate following injury, have s …
A major impediment to improving the treatment of concussion is our current inability to identify patients that will experience persis …
Predicting Intracerebral Hemorrhage Growth With the Spot Sign: The Effect of Onset-to-Scan Time.
Dowlatshahi D, Brouwers HB, Demchuk AM, Hill MD, Aviv RI, Ufholz LA, Reaume M, Wintermark M, Hemphill JC 3rd, Murai Y, Wang Y, Zhao X, Wang Y, Li N, Sorimachi T, Matsumae M, Steiner T, Rizos T, Greenberg SM, Romero JM, Rosand J, Goldstein JN, Sharma M. Dowlatshahi D, et al. Stroke. 2016 Mar;47(3):695-700. doi: 10.1161/STROKEAHA.115.012012. Epub 2016 Feb 4. Stroke. 2016. PMID: 26846857 Free PMC article. Review.
Our results offer more precise risk stratification for patients with acute intracerebral hemorrhage and will help refine clinical prediction rules for intracerebral hemorrhage expansion....
Our results offer more precise risk stratification for patients with acute intracerebral hemorrhage and will help refine clinical pre …
The progression of the ClinGen gene clinical validity classification over time.
McGlaughon JL, Goldstein JL, Thaxton C, Hemphill SE, Berg JS. McGlaughon JL, et al. Hum Mutat. 2018 Nov;39(11):1494-1504. doi: 10.1002/humu.23604. Hum Mutat. 2018. PMID: 30311372 Free PMC article.
In order for ClinGen to maintain up-to-date gene-disease clinical validity classifications for use by clinicians and clinical laboratories, an appropriate timeline for reevaluating curated gene-disease associations will need to be determined. To provide guidance on how oft …
In order for ClinGen to maintain up-to-date gene-disease clinical validity classifications for use by clinicians and clinical laboratories, …
Common Data Elements for Disorders of Consciousness: Recommendations from the Working Group on Behavioral Phenotyping.
Yakhkind A, Niznick N, Bodien YG, Hammond FM, Katz D, Luaute J, McNett M, Naccache L, O'Brien K, Schnakers C, Sharshar T, Slomine BS, Giacino JT; Curing Coma Campaign and its Contributing Members. Yakhkind A, et al. Neurocrit Care. 2024 Jun;40(3):909-917. doi: 10.1007/s12028-023-01844-9. Epub 2023 Sep 19. Neurocrit Care. 2024. PMID: 37726548
RESULTS: We identified a slate of existing and newly proposed basic, supplemental, and exploratory CDEs that can be used for behavioral phenotyping of adult and pediatric patients with DoC. CONCLUSIONS: The proposed behavioral phenotyping CDEs will assist with internationa …
RESULTS: We identified a slate of existing and newly proposed basic, supplemental, and exploratory CDEs that can be used for behavioral phen …
ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.
DiStefano MT, Hemphill SE, Oza AM, Siegert RK, Grant AR, Hughes MY, Cushman BJ, Azaiez H, Booth KT, Chapin A, Duzkale H, Matsunaga T, Shen J, Zhang W, Kenna M, Schimmenti LA, Tekin M, Rehm HL, Tayoun ANA, Amr SS; ClinGen Hearing Loss Clinical Domain Working Group. DiStefano MT, et al. Genet Med. 2019 Oct;21(10):2239-2247. doi: 10.1038/s41436-019-0487-0. Epub 2019 Mar 21. Genet Med. 2019. PMID: 30894701 Free PMC article.
The summary of each curation is date stamped with the HL GCEP approval, is live, and will be kept up-to-date on the ClinGen website ( https://search.clinicalgenome.org/kb/gene-validity ). ...
The summary of each curation is date stamped with the HL GCEP approval, is live, and will be kept up-to-date on the ClinGen website ( …
27 results