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Alison J Whelan

Publications and source records attributed to Alison J Whelan.

10 recordsLinked to original sources

Which U.S. medical graduates plan to become specialty-board certified? Analysis of the 1997-2004 national association of American Medical Colleges Graduation Questionnaire database.

BACKGROUND: Predictors of U.S. allopathic medical-school graduates' board-certification plans have not been characterized. METHOD: Using multivariable logistic regression, graduates' responses to 11 questions on the 1997-2004 Association of American Medical Colleges Graduation Questionnaire were analyzed to identify independent predictors of plans for specialty-board certification. RESULTS: The proportion of 108,408 graduates planning specialty-board certification decreased from 97.3% in 1997 to 88.4% in 2004. Among 101,805 (93.9%) graduates with complete data, graduates who were Hispanic, rated their clinical clerkships, quality of medical education, and confidence in clinical skills more highly, had any debt, and planned "University-faculty" careers were more likely to plan becoming board certified. Females, Asians/Pacific Islanders, and graduates who planned to practice in underserved areas, planned "other" nonclinical-practice careers, and graduated with MD/other (non-PhD) degrees were less likely to plan becoming board certified. CONCLUSION: Specialty-board certification does not appear to be among the professional goals for a growing proportion of U.S. medical graduates.

Career Choice↗

What predicts USMLE Step 3 performance?

BACKGROUND: Academic and other student-specific variables associated with United States Medical Licensing Examination (USMLE) Step 3 performance have not been fully defined. METHOD: We analyzed Step 3 scores in association with medical school academic-performance measures, gender, residency specialty, and first postgraduate year (PGY-l) of training program-director performance evaluations. RESULTS: There were significant first-order associations between Step 3 scores and each of USMLE Step 1 and Step 2 scores, third-year clerkships' grade point average (GPA), Alpha Omega Alpha election, Medical Scientist Training Program graduation, broad-based specialty residency training, and PGY-l performance evaluation score. In a multiple linear regression model accounting for over 50% of the total variance in Step 3 scores, Step 2 scores, broad-based-specialty residency training, and GPA independently predicted Step 3 scores. CONCLUSIONS: Individualized Step 3 scores provide medical schools with additional means to externally validate their educational programs and to enhance the scope of outcomes assessments for their graduates.

Clinical Clerkship↗

Penetrance and expressivity of MSH6 germline mutations in seven kindreds not ascertained by family history.

Hereditary nonpolyposis colorectal cancer (HNPCC) is caused by inherited mutations in DNA mismatch-repair genes, most commonly MLH1 or MSH2. The role MSH6 plays in inherited cancer susceptibility is less well defined. The aim of this study was to investigate the penetrance and expressivity of MSH6 mutations in kindreds ascertained through endometrial cancer probands unselected for family history. Detailed pedigrees were constructed for six MSH6 mutation carriers. All reported cancers and precancers were confirmed, and tissues were obtained when available. Tumors were analyzed for microsatellite instability (MSI) and for expression of MSH2, MLH1, and MSH6. MSH6 mutation status was determined for 59 family members. Of these 59 individuals, 19 (32%) had confirmed cancers and precancers. There was an excess of mutation carriers among the 19 affected family members (11 [58%] of 19) compared with those among the 40 unaffecteds (8 [20%] of 40, P=.0065, odds ratio = 5.5, 95% CI = 1.66-18.19). In four of the seven tumors analyzed from mutation carriers other than the probands, MSI and/or MMR protein expression was consistent with the involvement of MSH6. Overall estimated penetrance of the MHS6 mutations was 57.7%. Of the tumors in mutation carriers, 78% were part of the extended HNPCC spectrum. This study demonstrates that MSH6 germline mutations are, indeed, associated with increased cancer risk and that the penetrance of mutations may be higher than appreciated elsewhere. A combination of MSI and immunohistochemistry analyses may be helpful in screening for MSH6 mutation carriers.

Adaptor Proteins, Signal Transducing↗

What predicts surgical internship performance?

BACKGROUND: Variables associated with postgraduate year 1 (PGY-l) performance in surgical training have not been fully defined. METHODS: Mean composite PGY-l evaluation scores were calculated from responses to questionnaires mailed to surgical program directors of 87 surgical graduates from 1997 to 2001. We analyzed evaluation scores for associations with sex, surgical specialty choice, United States Medical Licensing Examination (USMLE) step 1 and step 2 scores, Alpha Omega Alpha (AOA) election, and third-year clerkships' grade point average (GPA). RESULTS: There were significant first-order associations between PGY-l performance evaluation score and each of USMLE step 2 score and GPA. In a multiple linear regression model that included sex, surgical specialty choice, USMLE step l and step 2 scores, AOA, and GPA, USMLE step 2 score was the only significant predictor of PGY-l performance. CONCLUSIONS: Multiinstitutional studies are warranted to determine the predictive value of USMLE step 2 scores in residency performance beyond PGY-l and to identify other predictors of surgical PGY-l performance.

Adult↗

Genetic red flags: clues to thinking genetically in primary care practice.

This article presents an approach to "thinking genetically" in primary care. Busy practitioners often lack the time to consider thoroughly whether their patients have an underlying genetic diagnosis. To assist the primary care clinician, a working group of the Genetics in Primary Care Faculty Development Initiative developed a simple mnemonic, Family GENES, that alerts the clinician to consider genetic causes in the differential diagnosis. In addition to family history, the red flags include Groups of anomalies, Early or Extreme presentations of common diseases, Neurodevelopmental or Neurodegenerative conditions, Exceptional or unusual pathology, and Surprising laboratory values. This article discusses the components of the mnemonic, provides examples, and gives guidelines to appropriate actions once the possibility of a genetic diagnosis has been raised.

Congenital Abnormalities↗

Clinical genetic testing and early surgical intervention in patients with multiple endocrine neoplasia type 1 (MEN 1).

OBJECTIVE: We sought to develop a comprehensive program for clinical genetic testing in a large group of extended families with multiple endocrine neoplasia type 1 (MEN 1), with the ultimate aim of early tumor detection and surgical intervention. SUMMARY BACKGROUND DATA: Germline mutations in the MEN1 tumor suppressor gene are responsible for the MEN 1 syndrome. Direct genetic testing for a disease-associated MEN1 mutation is now possible in selected families. The neuroendocrine tumors of the pancreas/duodenum and the intrathoracic neuroendocrine tumors that occur in MEN 1 carry a malignant potential. Importantly, these tumors arise in otherwise young healthy patients and are complicated by the potential for multifocality and involvement of multiple target tissues. The optimal screening methods and indications for early surgical intervention in genetically positive patients have yet to be defined. METHODS: Nine MEN 1 kindreds were included in the study. The mutations for each kindred were initially identified in the research laboratory. Subsequently, mutation detection was independently validated in the clinical Molecular Diagnostic Laboratory. Each patient in the study underwent formal genetic counseling before testing. RESULTS: Genetic testing was performed in 56 at-risk patients. Patients were stratified according to risk: Group I (n = 25), 50% risk, younger than 30 years old; Group II (n = 20), 50% risk, 30 years old or older; Group III (n = 11) 25% risk. Seven patients (age, 12 to 42 years; mean, 20.6 +/- 3.8 years) had a positive genetic test. Patients with a novel positive genetic test were in either Group I (n = 6) or Group II (n = 1) and have been followed for 35.8 +/- 2.0 months. Of the 7 genetically positive patients, hypercalcemia was either present at the time of diagnosis or developed during the period of follow-up in 6 patients. Four patients have undergone parathyroidectomy as early as age 16 years. One genetically positive patient has not yet developed hyperparathyroidism. Intensive biochemical screening in this select group of patients identified an elevated pancreatic polypeptide level and pancreatic tail mass lesion in a 15-year-old male who is asymptomatic and currently normocalcemic. CONCLUSIONS: Genetic testing identifies patients harboring an MEN1 mutation before the development of clinical signs or symptoms of endocrine disease. When genetically positive patients are carefully studied prospectively, biochemical evidence of neoplasia can be detected an average of 10 years before clinically evident disease, allowing for early surgical intervention. Genetically positive individuals should undergo focused cancer surveillance for early detection of the potentially malignant neuroendocrine tumors that account for most of the disease-related morbidity and mortality.

Adolescent↗

Recent trends in match process outcomes for U.S. senior medical students.

PURPOSE: It is difficult to compare match outcomes across specialties because they may change over time and data are not reported in uniform formats. METHOD: Recent U.S. student match outcomes were analyzed for 16 specialties. RESULTS: On the basis of student match rates, three specialties were consistently competitive, eight were consistently noncompetitive, and five were in flux. Unfilled position rates increased for five specialties and remained stable or decreased for 11. CONCLUSIONS: Many specialties, both competitive and noncompetitive, recently have become increasingly desirable to match participants, whereas primary care specialties have become less desirable to both U.S. students and other match participants.

Career Choice↗

MSI in endometrial carcinoma: absence of MLH1 promoter methylation is associated with increased familial risk for cancers.

Loss of DNA mismatch repair occurs in a variety of malignancies and is associated with genome-wide instability of microsatellite repeats, a molecular phenotype referred to as microsatellite instability (MSI). MSI is a consistent feature of colorectal and endometrial tumors from patients with hereditary non-polyposis colorectal cancer (HNPCC). Sporadic colorectal and endometrial cancers that exhibit MSI frequently have methylation of the MLH1 promoter. We undertook a detailed family and medical history study to compare family cancer risk for women with MSI-positive and -negative endometrial cancers. The MLH1 promoter methylation status was determined for all cancers. Family histories were developed for 80 probands (40 with MSI-positive and 40 with MSI-negative tumors). The numbers of reported cancers in first- and second-degree relatives of the 2 groups were similar. There was a modest increase in familial cancer clustering for MSI-positive probands. When MSI-positive tumors were subclassified according to MLH1 promoter methylation, a clear association between methylation status and familial cancer risk was evident. Women with MSI-positive endometrial cancers in which the MLH1 promoter was unmethylated had a 7-fold relative risk (RR) of demonstrating familial clustering of cancers [RR 7.07 (95% confidence interval 2.29-21.81)]. The women with MSI-positive, MLH1-unmethylated tumors were significantly younger than the rest of the study population (56.1 years vs. 65.4, p < or = 0.01). Age of onset and tumor MSI not associated with MLH1 promoter methylation may point to women with a genetic susceptibility to malignancies.

Adaptor Proteins, Signal Transducing↗

A new first-year course designed and taught by a senior medical student.

Senior medical students have been utilized at some institutions in limited teaching roles for first-year medical students. The authors describe a pilot program in which a motivated senior medical student completely designed and taught an original course to a group of first-year students in academic year 2000-01. The 16-hour course was offered as a selective for first-year students. This course concentrated on clinically-focused topics, evidence-based medicine, and physical examination skills. Evaluations from the students in the course, as well as from a faculty advisor, were uniformly positive. This unique course filled an existing need in the first-year curriculum, and could be permanently integrated in various settings. This novel approach of a senior medical student's developing and teaching an entire first-year course benefited both the senior and first-year students and could be implemented at other institutions using similar methods or a number of suggested variations.

Curriculum↗