Results 101 to 110 of about 178,247 (303)

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Endotracheal Intubation Versus Supraglottic Airway for Airway Management in Adults with Out-of-hospital Cardiac Arrest: A Systematic Review and Meta-analysis [PDF]

Aim: The goal of this meta-analysis is to evaluate and compare the effectiveness of endotracheal intubation (ETI) and supraglottic airway (SGA) devices in airway management during out-of-hospital cardiac arrest events.
Pawel Wieczorek, Başar Cander, Dawid Kacprzyk, Lukasz Szarpak, Miroslaw Dabkowski, Michal Pruc   +5 more
core   +1 more source

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

Teaching and Training in Airway Management: Time to Evaluate the Current Model?

Airway, 2019
Management of the airway is central to the practice of anaesthesiology and yet surveys reveal that trainees frequently feel poorly trained in this area. Good skills in airway management include not only technical proficiency with an increasingly complex ...
Joanne Spaliaras, Agathe Streiff, Glenn Mann, Tracey Straker   +3 more
doaj   +1 more source

Difficult Airway Management in Adult Coronavirus Disease 2019 Patients: Statement by the Society of Airway Management

, 2021
The COVID-19 disease, caused by Coronavirus SARS-CoV-2, often results in severe hypoxemia requiring airway management. Because SARS CoV-2 virus is spread via respiratory droplets, bag-mask ventilation, intubation, and extubation may place health care ...
Foley, Lorraine J, Michael F. Aziz, Berkow, Lauren, Urdaneta, Felipe, Rosenblatt, William, Straker, Tracey M, Wong, David T, Aziz, Michael F, Lorraine J. Foley, Carin A. Hagberg, Hagberg, Carin A, Lauren Berkow, David T. Wong, Paul A. Baker, Tracey M. Straker, William Rosenblatt, Baker, Paul A, Narasimhan Jagannathan, Felipe Urdaneta, Jagannathan, Narasimhan   +19 more
core   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +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

The role of airway infection in chronic obstructive pulmonary disease

, 2006
PhDThis. thesis examines the role of respiratory bacterial and viral infection in the natural history of Chronic Obstructive Pulmonary Disease. The rationale for this study is basedu pon previous data demonstratingt hat airway bacterial colonisationi s
Wilkinson, Thomas Michael Alan
core  

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

Understanding barriers and identifying solutions for smoking cessation in primary care: survey results informed by an integrated knowledge translation approach in British Columbia, Canada

BMJ Open Quality
Introduction This quality improvement project was designed to identify perceptions, knowledge and training needs of primary care providers (PCPs) in British Columbia regarding smoking cessation treatment with the intent to improve practices and identify ...
Christopher Carlsten, Femke Hoekstra, Laura Struik, Phalgun Joshi, Tina Afshar, Erin Shellington, Megan Simmons, Renelle Myers, Milan Khara, Marilyn Gerald, Jim Johnson   +10 more
doaj   +1 more source