A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations.

Deletions encompassing TAK1-binding protein 2 (TAB2) associated with isolated and syndromic congenital heart defects. Rare missense variants are found in patients with a similar phenotype as well as in a single individual with frontometaphyseal dysplasia. We describe a family and an additional sporadic patient with polyvalvular heart disease, generalized joint hypermobility and related musculoskeletal complications, soft, velvety and hyperextensible skin, short limbs, hearing impairment, and facial dysmorphism. In the first family, whole-exome sequencing (WES) disclosed the novel TAB2 c.1398dup (p.Thr467Tyrfs*6) variant that eliminates the C-terminal zinc finger domain essential for activation of TAK1 (TGFß-activated kinase 1)-dependent signaling pathways. The sporadic case carryed a ~2 Mb de novo deletion including 28 genes also comprising TAB2. This study reveal an association between TAB2 mutations and a phenotype resembling Ehlers-Danlos syndrome with severe polyvalvular heart disease and subtle facial dysmorphism. Our findings support the existence of a wider spectrum of clinical phenotypes associated with TAB2 perturbations and emphasize the role of TAK1 signaling network in human development.

Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients.

Classical Ehlers-Danlos syndrome (cEDS) is characterized by marked cutaneous involvement, according to the Villefranche nosology and its 2017 revision. However, the diagnostic flow-chart that prompts molecular testing is still based on experts' opinion rather than systematic published data. Here we report on 62 molecularly characterized cEDS patients with focus on skin, mucosal, facial, and articular manifestations. The major and minor Villefranche criteria, additional 11 mucocutaneous signs and 15 facial dysmorphic traits were ascertained and feature rates compared by sex and age. In our cohort, we did not observe any mandatory clinical sign. Skin hyperextensibility plus atrophic scars was the most frequent combination, whereas generalized joint hypermobility according to the Beighton score decreased with age. Skin was more commonly hyperextensible on elbows, neck, and knees. The sites more frequently affected by abnormal atrophic scarring were knees, face (especially forehead), pretibial area, and elbows. Facial dysmorphism commonly affected midface/orbital areas with epicanthal folds and infraorbital creases more commonly observed in young patients. Our findings suggest that the combination of ≥1 eye dysmorphism and facial/forehead scars may support the diagnosis in children. Minor acquired traits, such as molluscoid pseudotumors, subcutaneous spheroids, and signs of premature skin aging are equally useful in adults.

Intention to practice primary care by pediatric residents: nature or nurture?

Factors associated with the intention to practice primary care were examined in a survey of a national sample of PL-2 residents (n = 98). Socioemotional orientation (nature), faculty and peer encouragement (nurture), and clinical experiences during residency (nurture) were independently associated with a primary care career choice. For residents who changed career intentions to primary care from a nonprimary care preference, gender, encouragement by faculty and peers, and outpatient experiences during residency were associated with the change. Encouragement by both faculty and peers had the strongest influence on primary care career choice for all residents.

Views of managed care--a survey of students, residents, faculty, and deans at medical schools in the United States.

BACKGROUND AND METHODS: Views of managed care among academic physicians and medical students in the United States are not well known. In 1997, we conducted a telephone survey of a national sample of medical students (506 respondents), residents (494), faculty members (728), department chairs (186), directors of residency training in internal medicine and pediatrics (143), and deans (105) at U.S. medical schools to determine their experiences in and perspectives on managed care. The overall rate of response was 80.1 percent. RESULTS: Respondents rated their attitudes toward managed care on a 0-to-10 scale, with 0 defined as "as negative as possible" and 10 as "as positive as possible." The expressed attitudes toward managed care were negative, ranging from a low mean (+/-SD) score of 3.9+/-1.7 for residents to a high of 5.0+/-1.3 for deans. When asked about specific aspects of care, fee-for-service medicine was rated better than managed care in terms of access (by 80.2 percent of respondents), minimizing ethical conflicts (74.8 percent), and the quality of the doctor-patient relationship (70.6 percent). With respect to the continuity of care, 52.0 percent of respondents preferred fee-for-service medicine, and 29.3 percent preferred managed care. For care at the end of life, 49.1 percent preferred fee-for-service medicine, and 20.5 percent preferred managed care. With respect to care for patients with chronic illness, 41.8 percent preferred fee-for-service care, and 30.8 percent preferred managed care. Faculty members, residency-training directors, and department chairs responded that managed care had reduced the time they had available for research (63.1 percent agreed) and teaching (58.9 percent) and had reduced their income (55.8 percent). Overall, 46.6 percent of faculty members, 26.7 percent of residency-training directors, and 42.7 percent of department chairs reported that the message they delivered to students about managed care was negative. CONCLUSIONS: Negative views of managed care are widespread among medical students, residents, faculty members, and medical school deans.

Comparison of osteopathic and allopathic medical Schools' support for primary care.

OBJECTIVE: To contrast prevailing behaviors and attitudes relative to prJgiary care education and practice in osteopathic and allopathic medical schools. DESIGN: Descriptive study using confidential telephone interviews conducted in 1993-94. Analyses compared responses of osteopaths and allopaths, controlling for prJgiary care orientation. SETTING: United States academic health centers. PARTICIPANTS: National stratified probability samples of first-year and fourth-year medical students, postgraduate year 2 residents, and clinical faculty in osteopathic and allopathic medical schools, a sample of allopathic deans, and a census of deans of osteopathic schools (n = 457 osteopaths; n = 2,045 allopaths). MEASUREMENTS: Survey items assessed personal characteristics, students' reasons for entering medicine, learners' prJgiary care educational experiences, community support for prJgiary care, and attitudes toward the clinical and academic competence of prJgiary care physicians. MAIN RESULTS: PrJgiary care physicians composed a larger fraction of the faculty in osteopathic schools than in allopathic schools. Members of the osteopathic community were significantly more likely than their allopathic peers to describe themselves as socioemotionally oriented rather than technoscientifically oriented. Osteopathic learners were more likely than allopathic learners to have educational experiences in prJgiary care venues and with prJgiary care faculty, and to receive encouragement from faculty, including specialists, to enter prJgiary care. Attitudes toward the clinical and academic competence of prJgiary care physicians were consistently negative in both communities. Differences between communities were sustained after controlling for prJgiary care orientation. CONCLUSIONS: In comparison with allopathic schools, the cultural practices and educational structures in osteopathic medical schools better support the production of prJgiary care physicians. However, there is a lack of alignment between attitudes and practices in the osteopathic community.

Mixed messages about primary care in the culture of U.S. medical schools.

PURPOSE: To examine the contributions of school-level variables associated with primary care career choice to students' enthusiasm for and perceived encouragement toward primary care. METHOD: Multilevel analysis of 264 fourth-year students and 500 clinical faculty members at 59 medical schools using data obtained in 1993 to 1994 from telephone interviews of a national stratified probability sample of students (response rate 90%) and faculty (response rate 81%). RESULTS: On average, students reported slightly positive regard for primary care and felt neither supported nor unsupported in their interests in primary care. Students' reports of encouragement toward primary care showed some consistency within schools (intraclass correlation = .08); their regard for primary care did not (intraclass correlation = .02). Regard for primary care was associated with students' intended specialty choices (p < .001), with students who planned to enter primary care careers reporting more positive attitudes. Students' perceptions of encouragement toward primary care careers were unrelated to their intended specialty choices, but significantly related to their schools' historical primary care production (p < .0001), federal research funding (p < .01), and school ownership (p < .01). CONCLUSION: Schools that have primary care missions and have historically produced more generalists transmit higher levels of encouragement to their students about primary care. However, even at schools with strong primary care missions, students hold unenthusiastic attitudes about primary care practice.

Enthusiasm for primary care: comparing family medicine and general internal medicine.

OBJECTIVE: To compare attitudes and perceptions of primary care among faculty, students, and residents oriented toward family medicine (FM) and general internal medicine (GIM). DESIGN: Descriptive study using confidential telephone interviews. PARTICIPANTS: National stratified probability sample of FM and GIM faculty (n = 68), residents (n = 196), and students (n = 81). MEASUREMENTS AND MAIN RESULTS: We created indicators for attitudes toward primary care among the faculty that included perceptions of medical practice, experiences within the academic environment, and support for primary-care-oriented change. For the students and residents, we explored their perceptions of faculty and resident attitudes toward primary care, their perception of encouragement to enter primary care, and their satisfaction with training. Family medicine faculty showed more enthusiasm for primary care as manifested by their greater likelihood to endorse a primary care physician to manage a serious illness (FM 81.3% vs GIM 41.1%; p < .01), their strong encouragement of students to enter primary care (FM 86.2% vs GIM 36.3%; p < .01), and their greater support for primary-care-oriented changes in medical education (FM 56.8% vs GIM 14.7%; p < .01). Family medicine students and residents were more likely to perceive the primary care faculty as very satisfied with their work (FM 69.2% vs GIM 51.5%; p < .05), to feel strongly encouraged by peers toward primary care (FM 59.5% vs GIM 16.1%; p < .0001), and to have a primary care role model (FM 84.3% vs GIM 61.3%; p < .05). CONCLUSIONS: Family medicine faculty, students, and residents showed a consistent pattern of greater enthusiasm for primary care than their GIM counterparts. This may be a reflection of the different cultures of the two disciplines.

Academia's chilly climate for primary care.

OBJECTIVE: To describe the attitudes toward and perceptions of primary care education and practice among academic health center constituents. DESIGN AND PARTICIPANTS: Descriptive study using confidential telephone interviews (October 1993 to March 1994) of national stratified probability samples of first- and fourth-year medical students, residents, clinical faculty, internal medicine and pediatrics residency training directors and chairs, and deans (N=2293). RESULTS: Five areas were examined: respondents' specialty orientation, attitudes toward the competence of primary care physicians, encouragement and positive regard for primary care, exposure to primary care-related educational experiences, and socioemotional orientation. The response rate was 84%. Respondents generally perceive primary care tasks as not requiring high levels of expertise; nearly half believe that generalists are not the best physicians to manage patients with serious illness and that the quality of primary care research is inferior to that in other fields. Attitudes are more positive toward the quality of primary care teaching. Learners perceive little encouragement for generalist careers and negative attitudes toward generalists among faculty, and view the quality of their primary care training as inferior to that for specialty practice. Those who have progressed further in the academic medicine hierarchy generally report lower levels of socioemotional orientation than individuals at earlier phases of career development. CONCLUSIONS: Despite changes in the health care system and in education, students and residents encounter an atmosphere that is chilly toward primary care. If medical educators seek to optimize enthusiasm and preparation for primary care careers, they must develop approaches to changing the attitudes, values and composition of their faculties.