Results 91 to 100 of about 414,205 (309)

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Bedside echo for chest pain: an algorithm for education and assessment

, 2016
Background: Goal-directed ultrasound protocols have been developed to facilitate efficiency, throughput, and patient care. Hands-on instruction and training workshops have been shown to positively impact ultrasound training.
Kartchner, Jeffrey, Srikar Adhikari, Nicolas Stea, Stolz, Lori, Joshi, Raj, Lori Stolz, Jeffrey Kartchner, Hawbaker, Nicolaus, Stea, Nicolas, Thompson, Matthew, Adhikari, Srikar, Matthew Thompson, Richard Amini, Nicolaus Hawbaker, Amini, Richard, Raj Joshi   +15 more
core   +2 more sources

Prevalence and prognostic impact of abnormal left ventricular ejection fraction in Hemodialysis patients with end-stage renal disease

BMC Nephrology
Background Patients with end-stage renal disease (ESRD) face a significantly elevated risk of cardiovascular morbidity and mortality, with left ventricular (LV) systolic dysfunction and heart failure (HF) being major contributors.
Qingkuan Li, Lingyue Qiu, Meiying Long, Huayuan Zeng, Zhihong Lu, Ling Liu, Yingzhong Lin, Kun Ye, Shaoming Qin, Qiuxia Wu, Qingwei Ji   +10 more
doaj   +1 more source

Do patients with non-ST-elevation myocardial infarction without chest pain suffer a poor prognosis?

Taiwanese Journal of Obstetrics & Gynecology, 2019
Objective: Previous studies have discussed acute myocardial infarction (AMI) patients without chest pain, but have not focused on non-ST-elevation myocardial infarction (NSTEMI).
Ding-Kuo Chien, Shih-Yi Lee, Chung-Lieh Hung, Fang-Ju Sun, Mau-Roung Lin, Wen-Han Chang   +5 more
doaj   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

Assessment of minute ventilation recovery time as a predictor of weaning outcomes: comparison of two methods

The Egyptian Journal of Bronchology
Background The process of discontinuing mechanical ventilation constitutes a major clinical challenge, especially in patients with respiratory diseases. A large spectrum of weaning predictors has been studied.
Ahmad Abbas, Hadeer Ahmed Elshahaat, Ashraf El Sayed Ahmed, Mohammad Walaa   +3 more
doaj   +1 more source

Human psychophysiological responses to visceral and somatic pain – the development of integrated, reproducible human pain phenotypes

, 2011
PhDBackground Pain is the ubiquitous human experience, yet displays considerable inter- and intraindividual variability in health and disease. Many factors have been proposed to account for these differences.
Farmer, Adam Donald
core  

CPR training in households of patients with chest pain

, 2003
The objectives of this study are to (1) quantify prior cardiopulmonary resuscitation (CPR) training in households of patients presenting to the Emergency Department (ED) with or without chest pain or ischaemic heart disease (IHD); (2) evaluate the ...
Chu, Kevin, Breeze, KM, Breeze, Katina, May, Christopher, May, CR, Clark, Michele J., Chu, KH, Clarke, MJ   +7 more
core   +1 more source

Gephyrin Neurological Autoimmunity

Annals of Neurology, EarlyView.
Gephyrin is a postsynaptic scaffold protein essential for inhibitory neurotransmission. Gephyrin‐immunoglobulin G (IgG) was reported, decades ago, in a single case of paraneoplastic stiff‐person‐like syndrome, but its broader clinical relevance remains unknown.
Maria Chiara Pantuliano, Friederike A. Arlt, Naomi Arenson, Irena Dujmovic Basuroski, Divyanshu Dubey, Connie E. Lesnick, John R. Mills, Sean J. Pittock, Anastasia Zekeridou, Michael A. Lane, Andrew McKeon   +10 more
wiley   +1 more source