Background
Exome/genome sequencing (ES/GS) have been recently used in neonatal and pediatric/cardiac intensive care units (NICU and PICU/CICU) to diagnose and care for acutely ill infants, but the effectiveness of targeted gene panels for these purposes remains unknown.
Methods
RapSeq, a newly developed panel targeting 4,503 disease‐causing genes, was employed on selected patients in our NICU/PICU/CICU. Twenty trios were sequenced from October 2015 to March 2017. We assessed diagnostic yield, turnaround times, and clinical consequences.
Results
A diagnosis was made in 10/20 neonates (50%); eight had de novo variants (
ASXL1
,
CHD
,
FBN1
,
KMT2D
,
FANCB
,
FLNA
,
PAX3
), one was a compound heterozygote for
CHAT
, and one had a maternally inherited
GNAS
variant. Preliminary reports were generated by 9.6 days (mean); final reports after Sanger sequencing at 16.3 days (mean). In all positive infants, the diagnosis changed management. In a case with congenital myasthenia, diagnosis and treatment occurred at 17 days versus 7 months in a historical control.
Conclusions
This study shows that a gene panel that includes the majority of known disease‐causing genes can rapidly identify a diagnosis in a large number of tested infants. Due to simpler deployment and interpretation and lower costs, this approach might represent an alternative to ES/GS in the NICU/PICU/CICU.
Background and Objectives: Faced with a limited supply of applicants for faculty positions, increasing demands for residency faculty, and a growing number of programs, our program has increasingly filled ranks with recent residency graduates with broad scope but limited experience and training in academics. These early-career clinicians often require further mentorship as they seek advancement in clinical skills and development of teaching and scholarly activity skill sets.
Methods: To educate our recent residency graduates in teaching/scholarly activity skills, and to provide a career trajectory, we created a process to guide their maturation with milestones using the six core competencies from the Accreditation Council for Graduate Medical Education. The milestones consist of four levels of clinician/academician maturation. Each competence has goals and activities for each level of development. We validated the milestones using our physician faculty assessing time spent in academic medicine and academic rank.
Results: Faculty of higher academic rank scored higher in all competencies than faculty of lower academic rank. Correlation between systems-based practice and years in academics demonstrated statistical significance, and all other categories showed nonsignificant associations.
Conclusions: The milestones are consistent with faculty academic development and career progression, and may serve as a guide for career advancement and as a guideline for professional progression for residency clinicians. Further testing for validation in other family medicine programs is necessary, but preliminary findings indicate this milestone project may be of service to our profession.
Conjugated copolymers containing electron donor and acceptor units in their main chain have emerged as promising materials for organic electronic devices due to their tunable optoelectronic properties.
A child life program was found to be effective in reducing anxiety and enhancing the self-esteem of a small number (N = 5) of long-term pediatric patients. In contrast, the anxiety of a group of control subjects (N = 5) increased from pretest to posttest whereas their self-esteem remained stable. A moderately significant difference in anxiety level was noted between groups at posttest. The program received exceptionally high ratings from the experimental group subjects, their mothers, and head nurses. The study serves as a model for the evaluation of child life and related nonmedical therapeutic programs. Suggestions for future applied research are made.
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