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Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
Shashi V, Schoch K, Ganetzky R, Kranz PG, Sondheimer N, Markert ML, Cope H, Sadeghpour A, Roehrs P, Arbogast T, Muraresku C; Undiagnosed Diseases Network; Tyndall AV, Esser MJ, Woodward KE, Ping-Yee Au B, Parboosingh JS, Lamont RE, Bernier FP, Wright NAM, Benseler SM, Parsons SJ, El-Dairi M, Smith EC, Valdez P, Tennison M, Innes AM, Davis EE. Shashi V, et al. Genet Med. 2023 Sep;25(9):100897. doi: 10.1016/j.gim.2023.100897. Epub 2023 May 13. Genet Med. 2023. PMID: 37191094 Free PMC article.
RESULTS: All 8 healthy children became acutely encephalopathic during a viral/febrile illness and received a variety of immune modulation treatments. Long-term outcomes varied from death to severe neurologic deficits to normal outcomes. ...
RESULTS: All 8 healthy children became acutely encephalopathic during a viral/febrile illness and received a variety of immune modulation tr …
Defining the clinical phenotype of Saul-Wilson syndrome.
Ferreira CR, Zein WM, Huryn LA, Merker A, Berger SI, Wilson WG, Tiller GE, Wolfe LA, Merideth M, Carvalho DR, Duker AL, Bratke H, Haug MG, Rohena L, Hove HB, Xia ZJ, Ng BG, Freeze HH, Gabriel M, Russi AHS, Brick L, Kozenko M, Earl DL, Tham E, Nishimura G, Phillips JA 3rd, Gahl WA, Hamid R, Jackson AP, Grigelioniene G, Bober MB. Ferreira CR, et al. Among authors: wolfe la. Genet Med. 2020 May;22(5):857-866. doi: 10.1038/s41436-019-0737-1. Epub 2020 Jan 17. Genet Med. 2020. PMID: 31949312 Free PMC article.
CONCLUSIONS: Saul-Wilson syndrome presents a remarkably uniform phenotype, and the comprehensive description of our cohort allows for improved understanding of the long-term morbidity of the condition, establishment of follow-up recommendations for affected individuals, an …
CONCLUSIONS: Saul-Wilson syndrome presents a remarkably uniform phenotype, and the comprehensive description of our cohort allows for improv …
Nutritional interventions in primary mitochondrial disorders: Developing an evidence base.
Camp KM, Krotoski D, Parisi MA, Gwinn KA, Cohen BH, Cox CS, Enns GM, Falk MJ, Goldstein AC, Gopal-Srivastava R, Gorman GS, Hersh SP, Hirano M, Hoffman FA, Karaa A, MacLeod EL, McFarland R, Mohan C, Mulberg AE, Odenkirchen JC, Parikh S, Rutherford PJ, Suggs-Anderson SK, Tang WH, Vockley J, Wolfe LA, Yannicelli S, Yeske PE, Coates PM. Camp KM, et al. Among authors: wolfe la. Mol Genet Metab. 2016 Nov;119(3):187-206. doi: 10.1016/j.ymgme.2016.09.002. Epub 2016 Sep 20. Mol Genet Metab. 2016. PMID: 27665271 Free PMC article. Review.
These areas were: 1) defining the disease, 2) clinical trial design, 3) biomarker selection, 4) mechanistic approaches, 5) challenges in using dietary supplements, 6) standards of clinical care, and 7) collaboration issues. Short- and long-term goals within each of these a …
These areas were: 1) defining the disease, 2) clinical trial design, 3) biomarker selection, 4) mechanistic approaches, 5) challenges in usi …
Preterm labor and chorioamnionitis are associated with neonatal T cell activation.
Luciano AA, Yu H, Jackson LW, Wolfe LA, Bernstein HB. Luciano AA, et al. Among authors: wolfe la. PLoS One. 2011 Feb 8;6(2):e16698. doi: 10.1371/journal.pone.0016698. PLoS One. 2011. PMID: 21347427 Free PMC article.
METHODOLOGY/PRINCIPAL FINDINGS: Cord blood samples were obtained following term, preterm, and deliveries complicated by clinical chorioamnionitis. ...Infants born following preterm delivery demonstrated enhanced CD4(+) T lymphocyte activation, as determined by CD25 (Ter …
METHODOLOGY/PRINCIPAL FINDINGS: Cord blood samples were obtained following term, preterm, and deliveries complicated by clinical chor …
Spontaneous baroreflex sensitivity after coronary artery bypass graft surgery as a function of gender and age.
Brown CA, Wolfe LA, Hains S, Ropchan G, Parlow J. Brown CA, et al. Among authors: wolfe la. Can J Physiol Pharmacol. 2003 Sep;81(9):894-902. doi: 10.1139/y03-087. Can J Physiol Pharmacol. 2003. PMID: 14614527
Both men and women showed a decrease in high-frequency power following CABG surgery, which decreased the sensitivity of the short-term cardiac control mechanisms that modulate heart rate, with the greater effects occurring in men. ...
Both men and women showed a decrease in high-frequency power following CABG surgery, which decreased the sensitivity of the short-term …
Effects of human pregnancy on fluid regulation responses to short-term exercise.
Heenan AP, Wolfe LA, Davies GA, McGrath MJ. Heenan AP, et al. Among authors: wolfe la. J Appl Physiol (1985). 2003 Dec;95(6):2321-7. doi: 10.1152/japplphysiol.00984.2002. Epub 2003 Sep 5. J Appl Physiol (1985). 2003. PMID: 12959950 Free article. Clinical Trial.
This study tested the hypothesis that human pregnancy alters fluid and electrolyte regulation responses to acute short-term exercise. Responses of 22 healthy pregnant women (PG; gestational age, 37.0 +/- 0.2 wk) and 17 nonpregnant controls (CG) were compared at rest and du …
This study tested the hypothesis that human pregnancy alters fluid and electrolyte regulation responses to acute short-term exercise. …
Recent advances in understanding maternal and fetal responses to exercise.
McMurray RG, Mottola MF, Wolfe LA, Artal R, Millar L, Pivarnik JM. McMurray RG, et al. Among authors: wolfe la. Med Sci Sports Exerc. 1993 Dec;25(12):1305-21. Med Sci Sports Exerc. 1993. PMID: 8107536 Review.
Our objectives are to present information that will a) stimulate new and innovative research designs for exercise and pregnancy studies, and b) add significantly to our knowledge and ability to develop safe and effective exercise programs for women who wish to remain physically a …
Our objectives are to present information that will a) stimulate new and innovative research designs for exercise and pregnancy studies, and …
Biocompatibility tests on a novel glass-ceramic system.
Wolfe LA, Boyde A. Wolfe LA, et al. J Appl Biomater. 1992 Fall;3(3):217-24. doi: 10.1002/jab.770030309. J Appl Biomater. 1992. PMID: 10171553
The interfacial shear strengths compared well with other biomaterials in use as endosseous implants. Therefore it seems pertinent to pursue further long-term experimentation with this material....
The interfacial shear strengths compared well with other biomaterials in use as endosseous implants. Therefore it seems pertinent to pursue …
Cardiac responses of young women to conditioning for a 10 kilometer race.
Wolfe LA, Laprade A, Burggraf GW, Norman R. Wolfe LA, et al. Int J Sports Med. 1992 Jul;13(5):384-9. doi: 10.1055/s-2007-1021285. Int J Sports Med. 1992. PMID: 1521955
Resting left ventricular dimensions and performance evaluated by echocardiography also did not change significantly after training. It was concluded that short-term conditioning in this population results in an increased exercise Q without concomitant increases in left ven …
Resting left ventricular dimensions and performance evaluated by echocardiography also did not change significantly after training. It was c …
Physical conditioning effects on cardiac dimensions: a review of echocardiographic studies.
Wolfe LA, Cunningham DA, Boughner DR. Wolfe LA, et al. Can J Appl Sport Sci. 1986 Jun;11(2):66-79. Can J Appl Sport Sci. 1986. PMID: 2942305 Review.
Values for the athletes were lower than in cardiac disease states. Short-term conditioning studies generally reported unimpressive changes in ventricular dimensions. ...Hereditary and/or familial factors appear to influence heart size to some degree and a correlation with …
Values for the athletes were lower than in cardiac disease states. Short-term conditioning studies generally reported unimpressive ch …