Evaluation of Postoperative Cognitive Dysfunction and Its Risk Factors in Elderly Patients Undergoing Elective Non-Cardiac Surgery: A Prospective Observational Study. [PDF]
Yigit AC +4 more
europepmc +1 more source
Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier +2 more
wiley +1 more source
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair +9 more
wiley +1 more source
Key predictors of 30-day mortality in non-cardiac surgery: development, key risk factors, and calibration of a risk model. [PDF]
Saetang M +8 more
europepmc +1 more source
Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease
ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth +7 more
wiley +1 more source
Current practices in hemodynamic monitoring and management during non-cardiac surgery in Austria. [PDF]
Gaik C +4 more
europepmc +1 more source
Aortic stenosis and non-cardiac surgery
Jane Brown, Nicholas J Morgan-Hughes
openaire +1 more source
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli +11 more
wiley +1 more source
Machine learning models for predicting postoperative delirium in non-cardiac surgery patients - systematic review and meta-analysis. [PDF]
Das O +5 more
europepmc +1 more source

