Objective: To determine whether incorporating our novel in-training evaluation report (ITER), which prompts each resident to list at least three self-identified learning goals, improved the quality of narrative assessments as measured by the Narrative Evaluation Quality Instrument (NEQI).
Methods: A total of 1468 narrative assessments from a single institution from 2017 to 2021 were deidentified, compiled, and sorted into the pre-intervention form arm and post-intervention form arm. Due to limitations in our residency management suite, incorporating learning goals required switching from an electronic form to a hand-deliver form.
Introduction: Following the identification of coronavirus disease 2019 (COVID-19) in China, the virus has spread rapidly around the world causing severe illness and death. Several vaccines were found to be safe and effective and made available first to those most at risk and then to the general public. Despite the safety and efficacy profiles, vaccine hesitancy remains a significant barrier to widespread immunity.
View Article and Find Full Text PDFBackground: Currently, the evidence for exercise in maintaining health, well-being, and physical functioning is overwhelming. Despite these benefits, more than 50% of the population fails to meet the recommended exercise requirements for age and health status. In our study, we sought to provide a method to increase exercise adherence that was both effective and time-efficient for physicians and their patients.
View Article and Find Full Text PDFObjectives: We investigated the impact of our laboratory's reflex testing process for resolving ERBB2 (HER2) status on breast cancer samples that require additional workup after fluorescence in situ hybridization (FISH), per guideline recommendations published in 2018 by the American Society of Clinical Oncology (ASCO) and the College of American Pathologists (CAP).
Methods: In total, 500 breast cancer specimens with ERBB2 FISH results in groups 2 through 4 (all reported as immunohistochemistry [IHC] equivocal [2+] at external laboratories) were resubmitted for IHC testing in our laboratory. Per the ASCO/CAP guideline, FISH was rescored when internal IHC was also equivocal (2+), targeted to tumor areas demonstrating more intense IHC staining, if observed.
Context.—: Guidelines for HER2 testing in breast cancer have changed over time, from the US Food and Drug Administration guideline to the American Society of Clinical Oncology (ASCO)/College of American Pathologists (CAP) guidelines published in 2007, 2013, and 2018.
Objective.
Objectives: To develop and test an integrated approach to human epidermal growth factor receptor 2 (HER2) copy number analysis in breast cancer using in situ hybridization (ISH) and cytogenomic microarray (CMA).
Methods: CMA was performed on four clinical breast cancer samples with nonclassical patterns of HER2 ISH results. Integrated analysis was performed by correlating the data from pathology review, ISH, and CMA.
Purpose: Febrile neutropenia (FN) is an oncologic emergency, and prolonged time to antibiotic administration (TTA) is associated with increased hospital length of stay (LOS) and worse outcomes. We hypothesized that a febrile neutropenia pathway (FNP) quality initiative project would reduce TTA delays for febrile patients with cancer presenting to the emergency department (ED).
Methods: This prospective study compared ED FNP patients (> 18 years old), between June 2012 and June 2013 with both historical and direct admissions (DA) cohorts at a multispecialty academic center.
Background: Primary prophylaxis with implantable cardioverter-defibrillators (ICDs) improves mortality in patients at risk for sudden cardiac death (SCD). However, ICDs are highly underutilized. We explored patients' attitudes and perceptions of ICDs to better understand potential patient-related barriers to appropriate utilization.
View Article and Find Full Text PDFBackground: Despite data showing the benefits of implantable cardioverter-defibrillator (ICD) insertion for primary prevention in populations at risk for sudden death, professional society guidelines recommending primary prevention, and recognition by payers of the clinical value of ICDs in these populations, ICDs for primary prevention remain underused. We sought to determine whether implementing a screening tool would increase appropriate identification of patients showing clinical evidence of ICD benefit and prompt referral to an electrophysiologist for ICD implantation.
Methods And Results: Screening tools were affixed to medical records for patients seen in 2 outpatient cardiology offices that queried ejection fraction and whether referral to an electrophysiologist was made (N=6632).
Prepulse inhibition (PPI) may useful for exploring the proposed shared neurobiology between idiopathic autism and autism caused by FXS. We compared PPI in four groups: typically developing controls (n = 18), FXS and autism (FXS+A; n = 15), FXS without autism spectrum disorder (FXS-A; n = 17), and idiopathic autism (IA; n = 15). Relative to controls, the FXS+A (p < 0.
View Article and Find Full Text PDFConstitutional activation of the MYC proto-oncogene resulting from a t(8;14) has been demonstrated in approximately 80% of Burkitt lymphoma patients, but only in one case of acute myeloid leukemia (AML). We report on a 59-year-old female diagnosed with minimally differentiated AML (M0). Chromosome analysis demonstrated both a 7q deletion and a t(8;14).
View Article and Find Full Text PDFBackground: Because fragile X syndrome (FXS) is prevalent, it has become the subject of newborn and high-risk screening efforts. International screening, however, can be financially and logistically prohibitive, particularly in countries where resources may be scarce. Recently, we have developed a screening test on blood spot that can detect expanded alleles from the normal through the full mutation range in both males and females.
View Article and Find Full Text PDFObjective: A pilot open label, single dose trial of fenobam, an mGluR5 antagonist, was conducted to provide an initial evaluation of safety and pharmacokinetics in adult males and females with fragile X syndrome (FXS).
Methods: Twelve subjects, recruited from two fragile X clinics, received a single oral dose of 50-150 mg of fenobam. Blood for pharmacokinetic testing, vital signs and side effect screening was obtained at baseline and numerous time points for 6 h after dosing.
Am J Med Genet B Neuropsychiatr Genet
June 2009
Pharmacological rescue of behavioral, cognitive and synaptic abnormalities in the animal models of fragile X syndrome (FXS) has prompted the initiation of clinical trials of targeted treatments in humans with this condition. Objective, well-validated outcome measures that are reflective of FXS deficits and can be modeled similarly in animal and human studies are urgently needed. A protocol measuring prepulse inhibition (PPI) of the startle reflex, including measures of test-retest stability, was evaluated in 61 individuals with the fragile X full mutation (40 males and 21 females; 19.
View Article and Find Full Text PDFFragile X-associated tremor/ataxia syndrome (FXTAS) is generally considered to be uncommon in older female carriers of premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene; however, neither prevalence, nor the nature of the clinical phenotype, has been well characterized in female carriers. In this study, we evaluated 146 female carriers (mean, 42.3 years; range, 20-75 years) with and without core features of FXTAS (tremor; gait ataxia), and 69 age-matched controls (mean, 45.
View Article and Find Full Text PDFWhile an established protocol exists for diagnosing individuals with the fragile X-associated tremor/ataxia syndrome (FXTAS), a quantitative measure of tremor and ataxia is needed. Using the CATSYS system to quantify movement abnormalities, we were able to record tremor, postural sway, manual (hand and finger) coordination, and reaction time in males with the FMR1 premutation, both with and without FXTAS, and compare them to controls. We evaluated 16 males diagnosed with FXTAS, 16 males with the premutation without FXTAS (non-FXTAS), and 14 age-matched controls.
View Article and Find Full Text PDFAlthough fragile X syndrome (FXS) is a single gene disorder with a well-described phenotype, it is not known why some individuals develop more significant maladaptive behaviors such as aggression or autistic symptoms. Here, we studied two candidate genes known to affect mood and aggression, the serotonin transporter (5-HTTLPR) and monoamine oxidase A (MAOA-VNTR) polymorphisms, in 50 males with FXS ages 8-24 years. Mothers and fathers of participants reported the frequency and severity of aggressive/destructive, self-injurious, and stereotypic behaviors.
View Article and Find Full Text PDFRenal cell carcinoma (RCC) is a heterogeneous disease and its biology is poorly understood. The commonest subtype identified is clear cell RCC. The insulin-like growth factor axis is intimately involved with many cellular roles including that of renal development.
View Article and Find Full Text PDFThe Ink4a/Arf locus is functionally linked to the Rb and p53 pathways through the action of its two gene products. Mouse models null for this locus show rapid onset of cancer with a preponderance of lymphomas and sarcomas. We report on a study of cell lines derived from sarcomas arising in Ink4a/Arf null mice.
View Article and Find Full Text PDFBackground: Deep vein thrombosis (DVT) has been reported to occur in 20% to 40% of high-risk trauma patients if no prophylaxis is used. The purpose of this study was to determine the incidence of DVT and utility of a screening program in a high-risk group of trauma patients for whom routine DVT prophylaxis was utilized.
Patients And Methods: Of 3,154 trauma admissions over a 20-month period, 343 patients (10.
Background: In this study, the efficacy of composite sequential bypass is compared to that of standard in situ bypass, and to alternate prosthetic graft systems which have been used for the treatment of multilevel infrainguinal arterial occlusive disease in the absence of suitable autogenous vein.
Patients And Methods: A retrospective review of graft patency and limb salvage included 197 patients undergoing 211 bypass procedures consisting of in situ femoral-tibial (IS; n = 119); composite sequential (CS; n = 35), prosthetic femoropopliteal with single (PFP-1; n = 30) or no vessel runoff (PFP-O; n = 9), and prosthetic femoral-tibial (PFT; n = 18) bypass.
Results: By life-table analysis, IS bypass provided superior primary (P < 0.
Colonic ischemia is an often fatal complication of abdominal aortic aneurysm (AAA) repair. In elective AAA repair, patency of the inferior mesenteric artery (IMA) has been shown to be an important contributing factor. The purpose of this study was to determine which clinical and operative factors are important in the development of colonic ischemia in ruptured AAA repair.
View Article and Find Full Text PDFElderly patients with abdominal aortic aneurysms (AAA) may be deemed inoperable due to the presence of comorbid conditions. Presentation of these patients with acute rupture can then result in difficult ethical decisions regarding surgical treatment. Over six years, 80 patients were treated emergently for ruptured AAA.
View Article and Find Full Text PDFBackground: This study was undertaken to evaluate the outcome of infrainguinal arterial reconstruction in a high-risk subset of patients with end-stage renal disease.
Methods: We reviewed the medical records of 44 patients requiring maintenance dialysis and undergoing 57 infrainguinal bypass procedures for limb salvage from 1986 to 1992. These included 16 (28%) femoropopliteal and 41 (72%) tibial or pedal bypasses with autogenous (82%), prosthetic (12%), or composite (6%) graft materials.