Relationship of Physical Examination Technique to Associated Clinical Skills: Results from a Direct Observation Assessment.

BACKGROUND: The purpose of this research was to use direct observation of the physical examination to elucidate the role physical examination technique plays in diagnostic accuracy. Physical examination is important for quality clinical care and requires multiple interrelated skills. The relationship of physical examination technique to related skills is poorly understood. Current methods of teaching and assessing physical examination skills provide few opportunities to evaluate physical examination technique and accuracy. METHODS: The authors developed a clinical examination assessment using volunteer patients and direct observation. Trained faculty preceptors rated resident performance in 7 domains: 1) physical examination technique, 2) identification of physical signs, 3) clinical communication, 4) differential diagnosis, 5) clinical judgment, 6) managing patient concerns, and 7) maintaining patient welfare. The Pearson correlation coefficient was used to determine relationships between performance in each of these domains. Data on residents' self-assessed competency in the physical examination and perceptions of feedback received during the assessment were collected. RESULTS: From December 2018 to February 2020, 113 interns from 2 internal medicine residency programs participated in the assessment. Physical examination technique was significantly correlated with accurate identification of physical signs, differential diagnosis and clinical judgment. Time spent in graduate medical education was negatively correlated with performance. Interns more highly rated the feedback received from this assessment than traditional clinical skills feedback. CONCLUSIONS: Our findings emphasize the necessity of multi-dimensional physical examination assessment. Observed deterioration of physical examination skill during internship may reflect contemporary practice patterns, which deprioritize the physical examination. Future research on physical examination education should focus on the interface between physical examination technique and related clinical skills.

Assessing physical examination skills using direct observation and volunteer patients.

BACKGROUND: Feedback based on direct observation of the physical examination (PE) is associated with enhanced educational outcomes, yet attending physicians do not frequently observe graduate trainees performing the PE. METHODS: We recruited volunteer patients (VPs), each with an abnormality of the cardiovascular, respiratory, or neurological system. Interns examined each VP, then presented a differential diagnosis and management plan to two clinician educators, who, themselves, had independently examined the VPs. The clinician educators assessed interns along five domains and provided post-examination feedback and teaching. We collected data on intern performance, faculty inter-rater reliability, correlation with a simulation-based measure of clinical skill, and resident and VP perceptions of the assessment. RESULTS: A total of 72 PGY-1 interns from a large academic training program participated. Performance on the cardiovascular and respiratory system was superior to performance on the neurologic exam. There was no correlation between results of an online test and directly observed cardiovascular skill. Interns preferred feedback from the direct observation sessions. VPs and faculty also rated the experience highly. Inter-rater reliability was good for the respiratory exam, but poor for the cardiovascular and neurologic exams. CONCLUSIONS: Direct observation of trainees provides evidence about PE skill that cannot be obtained via simulation. Clinician educators' ability to provide reliable PE assessment may depend on the portion of the PE being assessed. Our experience highlights the need for ongoing training of clinician educators in direct observation, standard setting, and assessment protocols. This assessment can inform summative or formative assessments of physical exam skill in graduate medical education.

Endomyocardial Biopsy Characterization of Heart Failure With Preserved Ejection Fraction and Prevalence of Cardiac Amyloidosis.

OBJECTIVES: This study prospectively evaluated endomyocardial biopsies in patients with heart failure with preserved ejection fraction (HFpEF) to identify histopathologic phenotypes and their association with clinical characteristics. BACKGROUND: Myocardial tissue analysis from a prospectively defined HFpEF cohort reflecting contemporary comorbidities is lacking. METHODS: Patients with HFpEF (EF ≥50%) referred to the Johns Hopkins HFpEF Clinic between August 2014 and September 2018 were enrolled for right heart catheterization and endomyocardial biopsy. Clinical features, echocardiography, hemodynamics, and tissue histology were determined and compared with controls (unused donor hearts) and HF with reduced EF (HFrEF). RESULTS: Of the 108 patients enrolled, median age was 66 years (25th to 75th percentile: 57 to 74 years), 61% were women, 57% were African American, 62% had a previous HF hospitalization, median systolic blood pressure was 141 mm Hg (25th to 75th percentile: 125 to 162 mm Hg), body mass index (BMI) was 37 kg/m2 (25th to 75th percentile: 32 to 45 kg/m2), and 97% were on a loop diuretic. Myocardial fibrosis and myocyte hypertrophy were often present (93% and 88%, respectively); however, mild in 71% with fibrosis and in 52% with hypertrophy. Monocyte infiltration (CD68+ cells/mm2) was greater in patients with HFpEF versus controls (60.4 cells/mm2 [25th to 75th percentile: 36.8 to 97.8] vs. 32.1 cells/mm2 [25th to 75th percentile: 22.3 to 59.2]; p = 0.02) and correlated with age and renal disease. Cardiac amyloidosis (CA) was diagnosed in 15 (14%) patients (HFpEF-CA: 7 patients with wild-type transthyretin amyloidosis [ATTR], 4 patients with hereditary ATTR, 3 patients with light-chain amyloidosis, and 1 patient with AA (secondary) amyloidosis), of which 7 cases were unsuspected. Patients with HFpEF-CA were older, with lower BMI, higher left ventricular mass index, and higher N-terminal pro-B-type natriuretic peptide and troponin I levels. CONCLUSIONS: In this large, prospective myocardial tissue analysis of HFpEF, myocardial fibrosis and hypertrophy were common, CD68+ inflammation was increased, and CA prevalence was 14%. Tissue analysis in HFpEF might improve precision therapies by identifying relevant myocardial mechanisms.

The Role of Genetics in Peripartum Cardiomyopathy.

Peripartum cardiomyopathy (PPCM) is an uncommon complication of pregnancy. Early case reports identified overlap between familial dilated cardiomyopathy (DCM) and PPCM, although the degree of overlap is largely unknown. Other evidence supporting a contribution from gene mutations in PPCM includes familial occurrence, genome-wide association studies, variable prevalence among different regions and ethnicities, and more recent investigations of panels of genes for mutations among women with PPCM. Murine models implicate the role of altered metabolism and increased free radical stress to the heart during pregnancy, which seems to be involved in the pathogenesis of this condition. Although the true incidence of genetic cardiomyopathy is not yet known among women with PPCM, there is substantial evidence demonstrating that at least 10-15% of affected women have a clear genetic contribution to their condition. With this in mind, family counseling, cascade phenotypic screening, and clinical genetic testing should be considered among women with PPCM.

Genetic testing improves identification of transthyretin amyloid (ATTR) subtype in cardiac amyloidosis.

Amyloidosis is a group of conditions characterized by the accumulation of amyloid deposits in various tissues. Among these disorders, ATTR amyloidosis occurs either with or without a TTR pathogenic variant. Treatment for amyloidosis depends on the subtype, which is often identified through a tissue biopsy followed by liquid chromatography tandem mass spectrometry (LC-MS/MS). Genetic testing may be done to confirm these results for patients with ATTR amyloidosis; however, the necessity of genetic testing after LC-MS/MS has not been evaluated. A retrospective review identified 153 patients diagnosed with biopsy-proven ATTR amyloidosis, and 56 of these patients underwent both genetic testing and LC-MS/MS. LC-MS/MS and proteomics correctly reported the mutant peptide and heterozygosity in 47/56 (84%) cases. It failed to identify two individuals who were homozygous for the ATTRV122I mutation and failed to detect the following mutations in six other individuals: ATTRA19D, ATTRF44L, ATTRT60A, ATTRI68L and ATTRV122I. Therefore, LC-MS/MS is not sufficient to rule out a pathogenic mutation in cases of ATTR amyloid, and genetic testing should be performed in most cases of ATTR amyloidosis. Correct recognition of hereditary ATTR amyloidosis is important for estimating prognosis, proper familial counselling and guiding use of therapies, such as liver transplantation.