Results 211 to 220 of about 5,932,451 (312)

PICU Move! Improving Early Mobilization in a Large Pediatric Intensive Care Unit. [PDF]

Pediatr Qual Saf
Zedalis J, Budzynski K, Burkhardt M, Manzi A, Phillips S, Little A, Goodwin R, Moreno-Costa V, Senthil K.   +8 more
europepmc   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Using electronic health record audit logs to identify pediatric intensive care unit teams. [PDF]

JAMIA Open
Nguyen LM, Sebok-Syer SS, Jacobson D, Mariano K, Grunyk J, Burk S, Nourkhalaj Y, Kirk K, Profit J, Rose C, Holmgren AJ, Kannampallil T, Tawfik D.   +12 more
europepmc   +1 more source

Longitudinal Echocardiographic Surveillance of Aortic Dilation in a Phenotype‐Enriched Turner Syndrome Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome (TS) is associated with thoracic aortopathy and increased risk for aortic dissection, yet the natural history of aortic dilation is not well understood. We performed a retrospective longitudinal study of individuals with TS who participated in the TS Society of the United States Healthy Heart Project between 2003 and 2023 ...
Dylan Doerner, Matthew R. Johnson, Sara Mansoorshahi, Rakesh Kathiresan, Katelyn Abel, Jonathan G. You, Emilio Quezada, Siddharth K. Prakash   +7 more
wiley   +1 more source

Pediatric Intensive Care Utilization and Outcomes in Denmark.

JAMA Netw Open
Buchardt AS, Nielsen JSA, Jensen A, Bohnstedt C, Munkholm A, Pedersen O, Christensen S, Steensen M, Hjelmgaard KB, Stensballe LG.   +9 more
europepmc   +1 more source

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Efficacy and safety of application of Sivelestat in pediatric intensive care unit: a systematic review and meta‑analysis. [PDF]

Transl Pediatr
Tu CX, Shen JL, Ren DY, Li YW, Zou Q, Yang YM, Li HY.   +6 more
europepmc   +1 more source

Augmented renal clearance in pediatric intensive care: are we undertreating our sickest patients?

Pediatric nephrology (Berlin, West), 2018
E. Dhont, T. Van Der Heggen, A. de Jaeger, J. Vande Walle, P. De Paepe, P. De Cock   +5 more
semanticscholar   +1 more source

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale, Christopher Tiessen, Vithya Gnanakumar   +2 more
wiley   +1 more source

Restraint care in the pediatric intensive care unit: a qualitative investigation of nurses' perspectives and experiences. [PDF]

Front Pediatr
Dai X, Liu Q, Ma S, Wei L.
europepmc   +1 more source