Results 161 to 170 of about 95,832 (259)

Visualizing Turner Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) continues to present a diagnostic challenge to healthcare professionals. The diagnostic challenges associated with TS result in delayed treatment and clinical care. Here we provide an update of the physical appearance of girls and women with TS by presenting clinical photographs and detailed clinical descriptions of 25 ...
Kirstine Stochholm, Astrid Bruun Rasmussen, Anne Skakkebæk   +2 more
wiley   +1 more source

PCV18 HEALTH SYSTEM COSTS OF OUT-OF-HOSPITAL CARDIAC ARREST IN RELATION TO TIME TO SHOCK

, 2003
AP Van Alem, M.G.W. Dijkgraaf, R Köster
openalex   +1 more source

Volunteers trained in CPR and use of automated external defibrillators increased survival after out of hospital cardiac arrest [PDF]

, 2005
S. Cuthbertson
openalex   +1 more source

Exenatide Once Weekly in the Treatment of Patients with Multiple System Atrophy

Annals of Neurology, EarlyView.
Objective Exenatide, a glucagon‐like peptide‐1 (GLP‐1) receptor agonist, has neuroprotective effects in preclinical models of multiple system atrophy (MSA). We investigated these effects in a proof‐of‐concept clinical trial. Methods In this single‐center, randomized, open label trial, participants with MSA were randomly assigned (1:1) to receive ...
Nirosen Vijiaratnam, Christine Girges, Martin Wiegand, Claudia Ismail, Alexandra Lameirinhas, Alison Yarnall, Cameron Kirk, Silvia Del‐Din, Lynn Rochester, Christopher Kobylecki, Gareth Ambler, Simon Skene, Henry Houlden, Viorica Chelban, Amanda Heslegrave, Wendy Phillips, Alan Whone, Niall Quinn, Christian Lambert, Charlotte Dore, Huw R. Morris, Mathew H. Horrocks, Ji Eun Lee, Judi O'Shaughnessy, Yazhou Li, Nigel H. Greig, Sonia Gandhi, Vincenzo Libri, Dilan Athauda, Tom Foltynie   +29 more
wiley   +1 more source

Heart Rate Profiles During Exercise and Incident Parkinson's Disease

Annals of Neurology, EarlyView.
Objective To determine whether established heart rate parameters of exercise, related to cardiac autonomic function, are associated with incident Parkinson's disease, independent of both clinical and autonomic prodromal features. Methods A study of UK Biobank participants who performed a standardized bicycle exercise test (2009–2013), followed until ...
Stefan van Duijvenboden, Julia Ramírez, Job Scheurink, Sirwan K. L. Darweesh, Michele Orini, Andrew Tinker, Patricia B. Munroe, Jos Thannhauser, Luc Evers, Joanna IntHout, Pier D. Lambiase, Bastiaan R. Bloem, Aiden Doherty, Marc A. Brouwer   +13 more
wiley   +1 more source

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism

Annals of Neurology, EarlyView.
Objective Autophagy is a fundamental biological pathway with vital roles in intracellular homeostasis. During autophagy, defective cargoes including mitochondria are targeted to lysosomes for clearance and recycling. Recessive truncating variants in the autophagy gene EPG5 have been associated with Vici syndrome, a severe early‐onset neurodevelopmental
Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, Reza Maroofian, Zita Suprenant, Ay Lin Kho, Neil J Ingham, Karen P Steel, Preethi Sheshadri, Franciska Baur, Lea Hentrich, Birgit Gerisch, Mina Zamani, Cesar Alves, Ata Siddiqui, Haidar S Dafsari, Mehri Salari, Anthony E. Lang, Michael Harris, Alice Abdelaleem, Saeid Sadeghian, Reza Azizimalamiri, Hamid Galehdari, Gholamreza Shariati, Alireza Sedaghat, Jawaher Zeighami, Daniel Calame, Dana Marafi, Ruizhi Duan, Adrian Boehnke, Gary D. Clark, Jill A. Rosenfeld, Carrie A. Mohila, Dora Steel, Saurabh Chopra, Suvasini Sharma, Nicolai Kohlschmidt, Steffi Patzer, Afshin Saffari, Darius Ebrahimi‐Fakhari, Büşra Eser Çavdartepe, Irene J Chang, Erika Beckman, Renate Peters, Andrew Paul Fennell, Bernice Lo, Luisa Averdunk, Felix Distelmaier, Martina Baethmann, Frances Elmslie, Kairit Joost, Sheela Nampoothiri, Dhanya Yesodharan, Hanna Mandel, Amy Kimball, Antonie D. Kline, Cyril Mignot, Boris Keren, Vincent Laugel, Katrin Õunap, Kalpana Devadathan, Frederique M.C. van Berkestijn, Arpana Silwal, Saskia Koene, Sumit Verma, Mohammed Yousuf Karim, Chahynez Boubidi, Majid Aziz, Gehad ElGhazali, Lauren Mattas, Mohammad Miryounesi, Farzad Hashemi‐Gorji, Shahryar Alavi, Nayereh Nouri, Mehrdad Noruzinia, Saeideh Kavousi, Arveen Kamath, Sandeep Jayawant, Russell Saneto, Nourelhoda A. Haridy, Pinar Ozkan Kart, Ali Cansu, Madeleine Joubert, Claire Beneteau, Kyra E. Stuurman, Martina Wilke, Tahsin Stefan Barakat, Homa Tajsharghi, Annarita Scardamaglia, Sadeq Vallian, Semra Hız, Ali Shoeibi, Reza Boostani, Narges Hashemi, Meisam Babaei, Norah Saleh Alsaleh, Julie Porter, Tania Attié‐Bitach, Pauline Marzin, Dorota Wicher, Jessica I. Gold, Elisabeth Schuler, Amna Kashgari, Rakan F. Alanazi, Wafaa Eyaid, Marc Engelen, Mirjam Langeveld, Burkhard Stüve, Yun Li, Gökhan Yigit, Bernd Wollnik, Mariana H.G Monje, Dimitri Krainc, Niccolò E. Mencacci, Somayeh Bakhtiari, Michael Kruer, Emanuela Argilli, Elliott Sherr, Yalda Jamshidi, Ehsan Ghayoor Karimiani, Yiu Wing Sunny Cheung, Ivan Karin, Giovanni Zifarelli, Peter Bauer, Wendy K Chung, James R. Lupski, Manju A. Kurian, Jörg Dötsch, Jürgen‐Christoph von Kleist‐Retzow, Thomas Klopstock, Matias Wagner, Calvin Yip, Andreas Roos, Rita Carsetti, Carlo Dionisi‐Vici, Mathias Gautel, Michael R Duchen, Adam Antebi, Henry Houlden, Manolis Fanto, Heinz Jungbluth   +140 more
wiley   +1 more source

Automatic External Defibrillation by First Responders for Out of Hospital Cardiac Arrest

, 2004
Erin Smith, Annette C. Fedson, Robert Meek, Carla Pasque   +3 more
openalex   +1 more source

Co‐Opting MBNL‐Dependent Alternative Splicing Cassette Exons to Control Gene Therapy in Myotonic Dystrophy

Annals of Neurology, EarlyView.
Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Samuel T. Carrell, Ellie M. Carrell, Ryan Giovenco, Beverly L. Davidson   +3 more
wiley   +1 more source

A study on out-of-hospital cardiac arrest in the eastern area of Yamaguchi prefecture.

, 2004
Akio Kajiyama, Teruo Shiraki, Shinji Sato, Hiroki Sugiyama, Makoto Kobayashi, Toshiyuki Takamura, Daiji Saito   +6 more
openalex   +2 more sources

Therapeutic Benefits of Induced Hypothermia: In and Out of Hospital Cardiac Arrest [PDF]

, 2011
Lehman, James, Panwar, Vikram, Ranaweera, Priyantha, Short, Steven   +3 more
core   +2 more sources