Results 81 to 90 of about 220,180 (313)

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness, Ameya S. Walimbe, Emily R. Strouphauer, Michio Hirano, Alejandro D. Iglesias, Valentina Emmanuele, Caitlin C. Griffin, Sheldon L. Kaplan, William A. Gomes, Karen K. Moeller, Stephen F. Kralik, Fernando Scaglia   +11 more
wiley   +1 more source

Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir, Karee Morgan, Karigynn Chaimson, Blake E. Funke, Kim L. Sandler, Melissa Hogan, Thomas Cassini   +6 more
wiley   +1 more source

SDPR–STK38 axis controls the proliferation–differentiation balance in alveolar type II cells

Animal Models and Experimental Medicine, EarlyView.
The present study identifies SDPR as a pivotal regulator orchestrating the balance between proliferation and differentiation in alveolar type II (AT2) cells. In SDPR+/+ cells, SDPR binds to and inhibits STK38 activity, thereby sustaining GSK‐3β signaling functionality to promote cyclin D1 degradation and maintain cell cycle homeostasis.
Jie Wang, Xuepei Lei, Yiying Huang, Jiaming Tang, Guiying Shi, Hang Li, Lin Bai   +6 more
wiley   +1 more source

Accidental oxygen disconnection in the emergency department

Journal of Emergencies, Trauma and Shock, 2010
Accidental oxygen disconnection during rapid sequence intubation (RSI) in the emergency department is a potentially catastrophic yet avoidable event.
Hill Guyon, Adams Bruce
doaj  

Intubation-Related Dysphonia Following Extreme Preterm Birth: Case Studies in Behavioural Voice Intervention

, 2014
Many more children than ever before survive and thrive following preterm birth (Saigal & Doyle, 2008). To date, research has focussed on medical, developmental, neurological, and behavioral outcomes.
S. Vijayasekaran (23372299), N. French (8084762), S. Meldrum (23306467), K. Simmer (23306473), Mary Reynolds (23458825)   +4 more
core  

Efficacy and Safety of Nanoencapsulated Sirolimus Plus Pegadricase: Results From the Randomized, Placebo‐Controlled Phase 3 Trials

Arthritis &Rheumatology, EarlyView.
Objective DISSOLVE I and II examined the efficacy and safety of nanoencapsulated sirolimus (NAS) plus pegadricase (NASP) in patients with uncontrolled gout (UG). Methods In these double‐blind, placebo‐controlled Phase 3 trials of NASP, patients were randomized 1:1:1 to infusions of high‐dose (HD) or low‐dose (LD) NAS plus pegadricase (HD NASP, LD NASP,
Herbert S. B. Baraf, Puja P. Khanna, Milan Petronijevic, Mamuka Lortkipanidze, Anand Patel, Kwabena Ayesu, Michael H. Pillinger, Atul Singhal, Joanna Sobierska, Jacquie Christie, Peter Traber, Rehan Azeem, Wesley DeHaan, Hugues Santin‐Janin, Bhavisha Desai, Alan Kivitz   +15 more
wiley   +1 more source

INDICATIONS FOR INTUBATION.

JAMA: The Journal of the American Medical Association, 1898
The conclusions deduced from a study of the symptoms of laryngeal diphtheria, as stated in this paper, are the result of personal observations at the bedside. My sole object in presenting them to the distinguished members of this Section is to elicit their candid criticisms, that, profiting by their large experience, I may be the better qualified to ...
openaire   +2 more sources

Acute toxicity of ADB‐CHMINACA ‐ a case series of patients with pronounced central nervous symptoms including the posterior reversible encephalopathic syndrome

British Journal of Clinical Pharmacology, EarlyView.
Aim This report presents a series of 16 patients who were admitted to the emergency department following confirmed intake of the potent synthetic cannabinoid ADB‐CHMINACA. Methods The cases are drawn from a prospective observational study following the recreational use of synthetic cannabinoids.
Maren Hermanns‐Clausen, Michaela Sommer, Annette Zschiesche, Verena Angerer, Martin Scheu, Florian Eyer, Johannes Nadler, Volker Auwärter   +7 more
wiley   +1 more source

Learning fiberoptic intubation for awake nasotracheal intubation

, 2017
Background: Fiberoptic nasotracheal intubation (FNI) is performed if it is difficult to open the mouth or if intubation using laryngoscope is expected to be difficult. However, training is necessary because intubation performed by inexperienced operators
Seo, Kwang-Suk, Hyun Jeong Kim, Kim, Hyuk, Hyuk Kim, Eunsun So, So, Eunsun, Kim, Hyun Jeong, Karm, Myong-Hwan, Myong-Hwan Karm, Kwang-Suk Seo   +9 more
core   +1 more source