Urinary I-FABP levels are not suitable as screening tool for NEC before clinical suspicion. However, urinary I-FABP and claudin-3 and fecal calprotectin are promising diagnostic markers for NEC. Furthermore, urinary I-FABP might also be used to predict disease severity.
From the perspective of test reliability, it is possible to economize on the resources needed for performance-based assessment by adding a separate written test component.
A feasible number of assessors per MSF occasion can reliably assess residents' performance. Scores from a single occasion should be interpreted cautiously. However, every occasion can provide valuable feedback for learning. This research confirms that the (unique) characteristics of different assessor groups should be considered when interpreting MSF results. Reliability seems to be influenced by the included assessor groups and competencies. These findings will enhance the utility of MSF during residency training.
Vascular malformations are part of overgrowth syndromes characterized by somatic mosaic mutations or rarely by germline mutations. Due to their similarities and diversity, clinicopathological classification can be challenging. A comprehensive targeted Next Generation Sequencing screen using Unique Molecular Identifiers with a technical sensitivity of 1% mutant alleles was performed for frequently mutated positions in ≥21 genes on 319 formalin‐fixed paraffin‐embedded samples. In 132 out of 319 cases pathogenic mosaic mutations were detected affecting genes previously linked to vascular malformations e.g.
PIK3CA
(n=80),
TEK
(
TIE2
) (n=11),
AKT1
(n=1),
GNAQ
(n=7),
GNA11
(n=4),
IDH1
(n=3),
KRAS
(n=9), and
NRAS
(n=1). Six cases harbored a combination of mutations in
PIK3CA
and in
GNA11
(n=2),
GNAQ
(n=2), or
IDH1
(n=2). Aberrations in
PTEN
and
RASA1
with a variant allele frequency approaching 50% suggestive of germline origin were identified in six out of 102 cases tested; four contained a potential second hit at a lower allele frequency. Ninety‐one of the total 142 pathogenic mutations were present at a variant allele frequency <10% illustrating the importance of sensitive molecular analysis. Clinicopathological characteristics showed a broad spectrum and overlap when correlated with molecular data. Sensitive screening of recurrently mutated genes in vascular malformations may help to confirm the diagnosis and reveals potential therapeutic options with a significant contribution of PIK3CA/mTOR and RAS‐MAPK pathway mutations. The co‐existence of two activating pathogenic mutations in parallel pathways illustrates potential treatment challenges and underlines the importance of multigene testing. Detected germline mutations have major clinical impact.
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