Hutchinson-Gilford progeria syndrome: Oral and craniofacial phenotypes

Autor: DL Domingo, MI Trujillo, SE Council, MA Merideth, LB Gordon, T Wu, WJ Introne, WA Gahl, TC Hart

Objective: Hutchinson-Gilford progeria syndrome (HGPS) is a rare early-onset accelerated senescence syndrome. In HGPS, a recently identified de novo dominant mutation of the lamin A gene (LMNA) produces abnormal lamin A, resulting in compromised nucl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6034f4aba105cfbde05f0f9fffe00df
https://europepmc.org/articles/PMC2664390/

Building Climate Change into Medical Education: A Society of General Internal Medicine Position Statement.

Autor: Ghosh AK; Division of General Internal Medicine, Department of Medicine, Weill Cornell Medicine, 420 E 70th St, New York, NY, 10065, USA. ad.elysium@gmail.com., Azan A; Division of General Internal Medicine, Department of Medicine, NYU Grossman School of Medicine, 550 1ST Ave, New York, NY, 10016, USA., Basu G; Department of Medicine, Cambridge Health Alliance, Harvard Medical School, 1493 Cambridge Street25 Shattuck Street, CambridgeBoston, MAMA, 0213902115, USA., Bernstein J; Department of Medicine, Medical College of Wisconsin, 8701 W Watertown Plank Rd, Milwaukee, WI, 53226, USA., Gillespie E; School of Medicine, University of Colorado Anschutz Medical Campus, Leprino Building, 4th Floor, 12401 East 17th Avenue, Aurora, CO, 80045, USA., Gordon LB; Department of Medicine, Maine Medical Center, 22 Bramhall St, Portland, ME, 04102, USA., Krishnamurthy S; Department of Internal Medicine, Wake Forest University School of Medicine, Winston-Salem, NC, 27101, USA., LeFrancois D; Division of General Internal Medicine, Department of Medicine, Montefiore Medical Center, 111 East 210th St, Bronx, NY, 10467, USA., Marcus EN; Division of General Internal Medicine, University of Miami Miller School of Medicine, 1120 NW 14th St, Miami, FL, 33136, USA., Tejani M; Division of General Medicine, Department of Medicine, Emory University School of Medicine, Atlanta, GA, 30332, USA., Townley T; Division of General Internal Medicine, Creighton University School of Medicine Omaha, 7500 Mercy Road, Omaha, NE, 68124, USA., Rimler E; Division of General Interval Medicine, Emory University School of Medicine, 100 Woodruff Circle, Atlanta, GA, 30322, USA., Whelan H; Division of Hospital Medicine, Department of Medicine, San Francisco VA Medical Center, University of California San Francisco, San Francisco, CA, 94121, USA.

Publikováno v: Journal of general internal medicine [J Gen Intern Med] 2024 Oct; Vol. 39 (13), pp. 2581-2589. Date of Electronic Publication: 2024 Feb 29.

Intervention for critical aortic stenosis in Hutchinson-Gilford progeria syndrome.

Autor: Gordon LB; Division of Genetics, Department of Pediatrics, Hasbro Children's Hospital and Warren Alpert Medical School of Brown University, Providence, RI, United States.; Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States.; The Progeria Research Foundation, Peabody, MA, United States., Basso S; The Progeria Research Foundation, Peabody, MA, United States.; Associazione Italiana Progeria Sammy Basso, Tezze sul Brenta, Vicenza.; CNR - National Research Council of Italy, Institute of Molecular Genetics Luigi Luca Cavalli-Sforza, Unit 9 of Bologna, Bologna, Italy.; IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy., Maestranzi J; The Progeria Research Foundation, Peabody, MA, United States., Aikawa E; Cardiovascular Division, Brigham and Women's Hospital, Boston, MA, United States., Clift CL; Cardiovascular Division, Brigham and Women's Hospital, Boston, MA, United States., Cammardella AG; Department of Cardiac Surgery and Heart Transplantation, San Camillo Forlanini Hospital, Roma, Italy., Danesi TH; Department of Surgery, Division of Cardiac Surgery, Brigham and Women's Hospital, Boston, MA, United States., Del Nido PJ; Department of Cardiac Surgery, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States., Edelman ER; Cardiovascular Division, Brigham and Women's Hospital, Boston, MA, United States.; Institute for Medical Engineering and Science, Massachusetts Institute of Technology, Cambridge, MA, United States., Hamdy A; Department of Pediatrics, Division of Pediatric Cardiology, Medical College of Georgia, Augusta University, Augusta, GA, United States., Hegde SM; Cardiovascular Division, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, United States., Kleinman ME; Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States., Maschietto N; Department of Cardiology, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States., Mehra MR; Cardiovascular Division, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, United States., Mukundan S; Department of Radiology, Brigham and Women's Hospital, Boston, MA, United States.; Department of Medicine, Boston Children's Hospital, Boston, MA, United States., Musumeci F; Department of Cardiac Surgery and Heart Transplantation, San Camillo Forlanini Hospital, Roma, Italy., Russo M; Department of Cardiac Surgery and Heart Transplantation, San Camillo Forlanini Hospital, Roma, Italy., Rybicki FJ; Department of Radiology, University of Arizona - Phoenix, Phoenix, AZ, United States., Shah PB; Cardiovascular Division, Brigham and Women's Hospital, Boston, MA, United States., Suarez WA; Division of Pediatric Cardiology, Department of Pediatrics, University of Toledo Medical Center, Toledo, OH, United States., Tuminelli K; The Progeria Research Foundation, Peabody, MA, United States., Zaleski K; Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States., Prakash A; Department of Cardiology, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States., Gerhard-Herman M; Cardiovascular Division, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, United States.

Publikováno v: Frontiers in cardiovascular medicine [Front Cardiovasc Med] 2024 Apr 25; Vol. 11, pp. 1356010. Date of Electronic Publication: 2024 Apr 25 (Print Publication: 2024).

Abnormal Myocardial Deformation Despite Normal Ejection Fraction in Hutchinson-Gilford Progeria Syndrome.

Autor: Olsen FJ; Department of Cardiology Boston Children's Hospital Boston MA USA.; Department of Pediatrics Harvard Medical School Boston MA USA.; Department of Cardiology Copenhagen University Hospital-Herlev and Gentofte Hellerup Denmark., Biering-Sørensen T; Department of Cardiology Copenhagen University Hospital-Herlev and Gentofte Hellerup Denmark., Lunze F; Department of Cardiology Boston Children's Hospital Boston MA USA., Hegde SM; Department of Medicine, Cardiovascular Medicine Brigham and Women's Hospital Boston MA USA., Colan SD; Department of Cardiology Boston Children's Hospital Boston MA USA.; Department of Pediatrics Harvard Medical School Boston MA USA., Ehrbar R; Department of Mathematics and Statistics Boston University, and Harvard Clinical Research Institute Boston MA USA., Massaro J; Department of Mathematics and Statistics Boston University, and Harvard Clinical Research Institute Boston MA USA., Ferraro AM; Department of Cardiology Boston Children's Hospital Boston MA USA., Harrild DM; Department of Cardiology Boston Children's Hospital Boston MA USA.; Department of Pediatrics Harvard Medical School Boston MA USA., Kleinman ME; Department of Critical Care Medicine Boston Children's Hospital Boston MA USA.; Department of Anesthesia Boston Children's Hospital Boston MA USA.; Department of Pediatrics Harvard Medical School Boston MA USA., Gordon LB; Department of Anesthesia Boston Children's Hospital Boston MA USA.; Department of Pediatrics Hasbro Children's Hospital, and Warren Alpert Medical School of Brown University Providence RI USA., Prakash A; Department of Cardiology Boston Children's Hospital Boston MA USA.; Department of Pediatrics Harvard Medical School Boston MA USA.

Publikováno v: Journal of the American Heart Association [J Am Heart Assoc] 2024 Feb 06; Vol. 13 (3), pp. e031470. Date of Electronic Publication: 2024 Jan 31.

Quality improvement project demonstrating a sustained increase in the assessment and sampling of ascites for hospitalised patients with cirrhosis.

Autor: Herrle EL; Internal Medicine, Maine Medical Center, Portland, Maine, USA., Thim M; Internal Medicine, Maine Medical Center, Portland, Maine, USA., Buttarazzi MS; Internal Medicine, Maine Medical Center, Portland, Maine, USA., Ptaschinski J; Internal Medicine, Maine Medical Center, Portland, Maine, USA., Molina V; Internal Medicine, Maine Medical Center, Portland, Maine, USA., Channell N; Internal Medicine, Maine Medical Center, Portland, Maine, USA.; Critical Care, Rush University Medical Center, Chicago, Illinois, USA., Gordon LB; Internal Medicine, Maine Medical Center, Portland, Maine, USA.

Publikováno v: Frontline gastroenterology [Frontline Gastroenterol] 2023 Oct 20; Vol. 15 (2), pp. 110-116. Date of Electronic Publication: 2023 Oct 20 (Print Publication: 2024).