Objective The Phenotype Risk Score (PheRS) is a method to detect Mendelian disease patterns using phenotypes from the electronic health record (EHR). We compared the performance of different approaches mapping EHR phenotypes to Mendelian disease features. Materials and Methods PheRS utilizes Mendelian diseases descriptions annotated with Human Phenotype Ontology (HPO) terms. In previous work, we presented a map linking phecodes (based on International Classification of Diseases [ICD]-Ninth Revision) to HPO terms. For this study, we integrated ICD-Tenth Revision codes and lab data. We also created a new map between HPO terms using customized groupings of ICD codes. We compared the performance with cases and controls for 16 Mendelian diseases using 2.5 million de-identified medical records. Results PheRS effectively distinguished cases from controls for all 15 positive controls and all approaches tested (P < 4 × 1016). Adding lab data led to a statistically significant improvement for 4 of 14 diseases. The custom ICD groupings improved specificity, leading to an average 8% increase for precision at 100 (-2% to 22%). Eight of 10 adults with cystic fibrosis tested had PheRS in the 95th percentile prio to diagnosis. Discussion Both phecodes and custom ICD groupings were able to detect differences between affected cases and controls at the population level. The ICD map showed better precision for the highest scoring individuals. Adding lab data improved performance at detecting population-level differences. Conclusions PheRS is a scalable method to study Mendelian disease at the population level using electronic health record data and can potentially be used to find patients with undiagnosed Mendelian disease.
Objective: Gated cardiac MRI offers the most detailed and accurate noninvasive method of assessing cardiac anatomy, particularly in patients with complex congenital heart disease. The proposed benefits of using cMRI as a routine screening tool in the Fontan population include early recognition of asymptomatic, postoperative anatomic and physiologic changes. In 2011, we therefore instituted at our center a recommended practice of cMRI screening in patients with Fontan physiology at 3 and 8 years post-Fontan operation. The purpose of this study was to determine the impact of this standardized practice of cMRI screening on the clinical management of a Fontan population. Design: We retrospectively reviewed charts from our institutional Fontan database to determine which patients were eligible for cMRI under the current guidelines and who underwent imaging from November 2002 to June 2015. We reviewed the frequency of cMRI and number of changes in management based on the results. Statistical significance was determined using a chi-square test.Results: There were 141 cMRIs performed on 121 patients who met inclusion criteria.The odds of a change in management were significantly greater after clinically indicated cMRI compared to screening cMRI (OR = 3.79, 95% CI: 1.48-9.66, P = .004).There were near significant odds of change in management if the cMRI occurred <8 years after Fontan regardless of whether it was for screening or clinically indicated purposes (OR = 2.43, 95% CI: 0.97-6.08, P = .052). The most frequent change in management was referral for catheterization with pulmonary artery angioplasty. Conclusions:There is an important role for cMRI in routine surveillance of post-Fontan patients. Screening cMRI performed less than 8 years after Fontan palliation offers increased utility compared to studies performed later. The optimal timing of such imaging after Fontan palliation remains unclear. K E Y W O R D Scardiac MRI, Fontan palliation, outcomes, surveillance | 141 ZAKI et al.
Background Contrast enhanced magnetic resonance imaging (MRI) is an important tool for the assessment of extracardiac vasculature and myocardial viability. Gadolinium (Gd) brain deposition after contrast enhanced MRI has recently been described and resulted in a warning issued by the United States Food and Drug Administration. However, the prevalence of brain deposition in children and adults with congenital heart disease (CHD) undergoing cardiovascular magnetic resonance (CMR) is unclear. We hypothesized that Gd exposure as part of one or more CMRs would lead to a low rate of brain deposition in pediatric and adult CHD patients. Methods We queried our institutional electronic health record for all pediatric and adult CHD patients who underwent contrast enhanced CMR from 2005 to 2018 and had a subsequent brain MRI. Cases were age- and gender-matched to controls who were never exposed to Gd and underwent brain MRIs. The total number of contrast enhanced MRIs, type of Gd, and total Gd dose were determined. Brain MRIs were reviewed by a neuroradiologist for evidence of Gd deposition using qualitative and quantitative assessment. Quantitative assessment was performed using the dentate nucleus to pons signal intensity ratio (dp-SIR) on T1 weighted imaging. Continuous variables were analyzed using Mann–Whitney U and Spearman rank correlation tests. Normal SIR was defined as the 95% CI of the control population dp-SIR. Results Sixty-two cases and 62 controls were identified. The most contrast enhanced MRIs in a single patient was five and the largest lifetime dose of Gd that any patient received was 0.75 mmol/kg. There was no significant difference in the mean dp-SIR of cases and controls (p = 0.11). The dp-SIR was not correlated with either the lifetime dose of Gd (rs = 0.21, p = 0.11) or the lifetime number of contrast enhanced studies (rs = 0.21, p = 0.11). Two cases and 2 controls had dp-SIRs above the upper bound of the 95% confidence interval for the control group. One case had qualitative imaging-based evidence of Gd deposition in the brain but had a dp-SIR within the normal range. Conclusion In our cohort of pediatric and adult CHD patients undergoing contrast enhanced CMR, there was a low incidence of qualitative and no significant quantitative imaging-based evidence of Gd brain deposition.
Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is a severe, treatable and potentially reversible disorder presenting with memory deficits, psychiatric symptoms and seizures. Initially described in young patients with ovarian teratoma, the disease is meanwhile increasingly recognized also in women without tumors, in men and in children. The presence of anti-glutamate receptor (type NMDA) autoantibodies in serum or cerebrospinal fluid is specific for this novel and widely under-diagnosed disorder. We present a young women presenting with psychotic symptoms, initially treated psychiatrically, but was ultimately discovered to have anti-NMDAR encephalitis. We review this disease state with respect to epidemiology, phenomenology, pathogenesis, and treatment.
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