Deletion of IFT20 in the mouse kidney causes misorientation of the mitotic spindle and cystic kidney disease

Primary cilia project from the surface of most vertebrate cells and are thought to be sensory organelles. Defects in primary cilia lead to cystic kidney disease, although the ciliary mechanisms that promote and maintain normal renal function remain incompletely understood. In this work, we generated a floxed allele of the ciliary assembly gene Ift20. Deleting this gene specifically in kidney collecting duct cells prevents cilia formation and promotes rapid postnatal cystic expansion of the kidney. Dividing collecting duct cells in early stages of cyst formation fail to properly orient their mitotic spindles along the tubule, whereas nondividing cells improperly position their centrosomes. At later stages, cells lacking cilia have increased canonical Wnt signaling and increased rates of proliferation. Thus, IFT20 functions to couple extracellular events to cell proliferation and differentiation

Assessing the Value of an Expanded Clinical Genetics Curriculum for Medical Students

Discusses an attempt at UMass Medical School to incorporate the potential impact of the expanding genetic technology into first and third year medical school curriculum. Presented at the AAMC (Association of American Colleges) Annual Meeting, RIME (Research in Medical Education) Program, November 2002

Arf4 is required for Mammalian development but dispensable for ciliary assembly

The primary cilium is a sensory organelle, defects in which cause a wide range of human diseases including retinal degeneration, polycystic kidney disease and birth defects. The sensory functions of cilia require specific receptors to be targeted to the ciliary subdomain of the plasma membrane. Arf4 has been proposed to sort cargo destined for the cilium at the Golgi complex and deemed a key regulator of ciliary protein trafficking. In this work, we show that Arf4 binds to the ciliary targeting sequence (CTS) of fibrocystin. Knockdown of Arf4 indicates that it is not absolutely required for trafficking of the fibrocystin CTS to cilia as steady-state CTS levels are unaffected. However, we did observe a delay in delivery of newly synthesized CTS from the Golgi complex to the cilium when Arf4 was reduced. Arf4 mutant mice are embryonic lethal and die at mid-gestation shortly after node formation. Nodal cilia appeared normal and functioned properly to break left-right symmetry in Arf4 mutant embryos. At this stage of development Arf4 expression is highest in the visceral endoderm but we did not detect cilia on these cells. In the visceral endoderm, the lack of Arf4 caused defects in cell structure and apical protein localization. This work suggests that while Arf4 is not required for ciliary assembly, it is important for the efficient transport of fibrocystin to cilia, and also plays critical roles in non-ciliary processes

Weaving The Threads of Multiculturalism Throughout Medical Education

How do medical students learn about the healthcare impact of essential multiculturalism issues in an increasingly diverse population? This study gauges student participation in a variety of multiculturalism curricula and student assessment of curriculum time devoted to multiculturalism at school versus national levels

Meeting Students Where They Are: Educating Students with Varying Life Experiences About the Health Care Needs of Persons with Disabilities

Purpose: Medical students enter preclinical years with varying levels of experience with individuals with disabilities. Previous experience has been shown to have a significant impact on attitudes toward this population and, hence, has the potential to impact patient care (Tervo et. al, 2002). This study examined the impact of a one-day Interclerkship on students’ self-reports regarding specific components of their attitudes, by level and type of previous disability experience. Methodology: Students met with individuals with physical or cognitive disabilities and their families in small groups to discuss their health care needs and experiences. Students also viewed a short film regarding effective methods of communication with and modifications to the clinical encounter for individuals with physical disabilities. Afternoon workshops covered a wide array of topics including assistive technology, sexuality/childbirth, mental health, community resources and bladder management. Students reported levels of experience cognitive/physical: friends, relatives, schoolmates k-12 and college. 153 (77%) students over two years completed pre-and post-Interclerkship self-assessments that rated attitudes about medical care for patients with disabilities, using a 14-item 5-point Likert scale; means were compared by paired t-test. Students also provided course feedback. Results: There was a highly significant (pConclusions: A single-day Interclerkship improved the attitudes of students’ reporting all levels and types of disability experience

Residents Report on the Importance of an Undergraduate End of Life Interclerkship

Does the perceived value of a third year End of Life (EOL) Interclerkship change after medical students complete their first year of residency? Several research studies indicate students’ perceptions about specific learning experiences change after graduating from medical school. The value that medical students put on their education of end of life issues increases after they leave medical school. This finding highlights the importance of teaching end of life issues to undergraduate medical students. Presented at the AAMC (Association of American Colleges) Annual Meeting, RIME (Research in Medical Education) Program, November 2006

Meeting Challenges in Caring for Patients with Disabilities: An Interclerkship Course

Purpose: People with disabilities use healthcare services more than those without disabilities, yet healthcare systems often fail these individuals. Understanding the needs of those with physical and cognitive disabilities is crucial in providing them with appropriate healthcare. A one-day Interclerkship introduced third-year medical students to key challenges for physicians who care for disabled patients: (1) building trust and confidence, (2) communication, (3) anticipating secondary medical conditions, (4) appropriately modifying clinical encounters, and (5) identifying appropriate community resources. Methodology: Essential elements of patient-centered care for disabled individuals were presented in plenary sessions. In small groups, students met with individuals with physical or development disabilities, their families and their community advocates, discussing healthcare and access concerns. Other workshops, taught by clinical and community experts, addressed assistive technology, parenting challenges, mental health, community resources, sexuality, and end-of-life care. Sixty-seven (69%) students completed pre-and post-Interclerkship self-assessments that rated knowledge, skills, and attitudes about medical care for disabled patients, using a 14-item 5-point Likert scale; means were compared by paired t-test. Students also provided course feedback. Results: There was a highly significant (p80% of the students agreed or strongly agreed that the Interclerkship addressed a topic essential to physician training, providing knowledge and skills not obtained elsewhere. Conclusions: A single-day Interclerkship successfully improved third year medical students self-assessed knowledge, attitudes and skills on providing appropriate medical care for disabled patient. Presented at the AAMC (Association of American Colleges) Annual Meeting, RIME (Research in Medical Education) Program, November 2006

The effect of a domestic violence interclerkship on the knowledge, attitudes, and skills of third-year medical students

PURPOSE: To determine whether participation in an intensive domestic violence interclerkship (DVI) improved the knowledge, attitudes, and skills of two successive cohorts of students at the University of Massachusetts Medical School. METHOD: The authors measured the knowledge, attitudes, and skills pertaining to domestic violence of third-year students in the classes of 1997 and 1998 using a validated written examination administered before, immediately after, and six months after participation in a 3.5-day or two-day DVI, respectively; they compared the scores using paired t-tests. Nine months after the DVI, the students\u27 domestic violence screening skills were measured by a performance-based assessment (OSCE); using unpaired t-tests, the authors compared the OSCE scores with those of a previous third-year class that had not participated in a DVI. Immediately after the OSCE, the students reported their levels of confidence in domestic violence screening and their satisfaction with the domestic violence curriculum; using chi-square analysis, those self-reports were compared with those of the class with no DVI. RESULTS: The students who participated in the DVIs immediately and significantly improved their knowledge, attitudes, and skills (p \u3c .001), and fully or partially sustained those improvements six months later (p \u3c .001). Nine months after the DVI, the students performed domestic violence screening more effectively (p \u3c .001), expressed greater comfort with domestic violence screening (p \u3c .001), and felt better-prepared by the curriculum to address domestic violence issues (p \u3c .001) than did the students with no DVI. CONCLUSION: Participation in a short, focused DVI curriculum produced sustainable improvements in knowledge, attitudes, and skills that were successfully applied by third-year medical students to effective domestic violence screening. Interclerkships are an effective way to fit into the clinical curriculum those subjects that transcend the traditional biomedical domain and intersect all areas of medical practice

Genetic link between renal birth defects and congenital heart disease

Structural birth defects in the kidney and urinary tract are observed in 0.5% of live births and are a major cause of end-stage renal disease, but their genetic aetiology is not well understood. Here we analyse 135 lines of mice identified in large-scale mouse mutagenesis screen and show that 29% of mutations causing congenital heart disease (CHD) also cause renal anomalies. The renal anomalies included duplex and multiplex kidneys, renal agenesis, hydronephrosis and cystic kidney disease. To assess the clinical relevance of these findings, we examined patients with CHD and observed a 30% co-occurrence of renal anomalies of a similar spectrum. Together, these findings demonstrate a common shared genetic aetiology for CHD and renal anomalies, indicating that CHD patients are at increased risk for complications from renal anomalies. This collection of mutant mouse models provides a resource for further studies to elucidate the developmental link between renal anomalies and CHD