Results 331 to 340 of about 6,560,806 (389)

Diagnostic Yield of Genome Sequencing Versus Exome Sequencing in Pediatric Patients With Rare Phenotypes: A Systematic Review and Meta‐Analysis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rare diseases affect 6% of Western societies and are a leading cause of pediatric mortality. The popularization of Next Generation Sequencing technologies, especially exome sequencing (ES), revolutionized the diagnosis of children with rare disease. Still, most patients face extensive diagnostic odysseys and remain undiagnosed.
Anna Luiza Braga Albuquerque, Giovanna Giovacchini dos Santos, Sara Hadj Sadok, Breno Bopp Antonello, Lorena Melo de Jesus, Maria Eduarda Andrade de Carvalho, Antonio Mutarelli, Paulo Victor Zattar Ribeiro   +7 more
wiley   +1 more source

Diaphragm Pacing in Early Critical Illness? A Plea for a Super-Relaxed Approach. [PDF]

Am J Respir Crit Care Med
Heunks L, Donker DW, Oppersma E, Ottenheijm CAC, Doorduin J.   +4 more
europepmc   +1 more source

Dynamics of Subphenotypes in Critical Illness: When the Tick-Tock of the Clock Counts. [PDF]

Am J Respir Crit Care Med
Ceccato A, Peñuelas O, Artigas A.
europepmc   +1 more source

Cost-Effectiveness of α2 Agonists for Intravenous Sedation in Patients With Critical Illness.

JAMA Netw Open
Morris S, Lone NI, McKenzie CA, Weir CJ, Walsh TS, A2B trial investigators.   +5 more
europepmc   +1 more source

Altered muscle transcriptome as molecular basis of long-term muscle weakness in survivors from critical illness. [PDF]

Intensive Care Med
Uzun Ayar C, Güiza F, Derese I, Pauwels L, Vander Perre S, Pintelon I, Casaer M, Van Aerde N, Hermans G, Derde S, Kreiss L, Van den Berghe G, Vanhorebeek I.   +12 more
europepmc   +1 more source

Standardizing persistent and chronic critical illness: impact of definitions variability on prevalence and mortality. [PDF]

Crit Care
Nakai T, Kotani Y, Hayashi Y.
europepmc   +1 more source

Effect of dietary fibre on the gastrointestinal microbiota during critical illness: A scoping review. [PDF]

World J Crit Care Med
Ghosh AN, Walsh CJ, Maiden MJ, Stinear TP, Deane AM.   +4 more
europepmc   +1 more source

Practical Anemia Bundle and Hemoglobin Recovery in Critical Illness: A Randomized Clinical Trial.

JAMA Netw Open
Warner MA, Johnson ML, Hanson AC, Fortune E, Flaby GW, Schulte PJ, Hazelton VM, Go RS, Beam WB, Charnin JE, Anderson BK, Karon B, Cheville AL, Gajic O, Kor DJ.   +14 more
europepmc   +1 more source

Critical Illness, Major Surgery, and Other Hospitalizations and Active and Disabled Life Expectancy.

JAMA Netw Open
Gill TM, Zang EX, Leo-Summers L, Gahbauer EA, Becher RD, Ferrante LE, Han L.   +6 more
europepmc   +1 more source