Lifestyle Medicine Professionals in Training: A Survey of Behaviors, Knowledge and Needs

Background/Purpose: It is well known that healthy lifestyle habits can influence chronic disease risk and outcomes. The effective practice of Lifestyle Medicine (LM), however, goes beyond general recommendations and has been encapsulated in well-defined clinical competencies. While it has been documented that graduating medical students feel inadequately prepared to counsel patients in nutrition and exercise, the purpose of this study is to explore the perceptions and experiences of Lifestyle Medicine in a group of interdisciplinary healthcare trainees. Methods: A pilot survey of trainees at the 2015 Annual American College of Lifestyle Medicine (ACLM) Conference assessed perspectives on the inclusion of nutrition and exercise in their educational curricula, knowledge of core LM competencies and personal health habits. Results: Of the 37 trainees registered, 22 surveys were completed. Twenty-six percent indicated they were exposed to courses in exercise; sixty-five percent reported having a nutrition block and fifty percent received instruction on counseling about LM behaviors. Relative importance using Likert scale (1-not important, 5-very important) ascribed similar levels of importance to exercise (4.44), nutrition (4.31), and behavioral counseling (4.58) training. Ninety-five percent reported personal engagement in physical activity, however only forty-two percent were familiar with the Lifestyle Medicine core competencies. Ninety-four percent indicated that the current medical model was insufficient in educating trainees to address lifestyle related diseases. Conclusion: In a select multidisciplinary sample of trainees, there is recognition of the importance of Lifestyle Medicine training. Although trainees surveyed practice healthful behaviors, the majority were not familiar with core Lifestyle Medicine competences and express strong interest in increased Lifestyle Medicine in their training experience

The Meaning of Genetic Research Results: Reflections from Individuals with and without a Known Genetic Disorder

In the debate about whether to return individual genetic results to research participants, consideration of the nature of results has taken precedence over contextual factors associated with different study designs and populations. We conducted in-depth interviews with 24 individuals who participated in a genotype-driven study of cystic fibrosis: 9 of the individuals had cystic fibrosis, 15 had participated as healthy volunteers, and all had gene variants of interest to the researchers. These interviews revealed that the two groups had different ideas about the meaningfulness of genetic results. Our findings point to the importance of understanding research context, such as participants’ relationship with the researcher and whether they have the disease condition under study, when considering whether to return individual results

The James Webb Space Telescope Mission

Twenty-six years ago a small committee report, building on earlier studies, expounded a compelling and poetic vision for the future of astronomy, calling for an infrared-optimized space telescope with an aperture of at least $4m$. With the support of their governments in the US, Europe, and Canada, 20,000 people realized that vision as the $6.5m$ James Webb Space Telescope. A generation of astronomers will celebrate their accomplishments for the life of the mission, potentially as long as 20 years, and beyond. This report and the scientific discoveries that follow are extended thank-you notes to the 20,000 team members. The telescope is working perfectly, with much better image quality than expected. In this and accompanying papers, we give a brief history, describe the observatory, outline its objectives and current observing program, and discuss the inventions and people who made it possible. We cite detailed reports on the design and the measured performance on orbit.Comment: Accepted by PASP for the special issue on The James Webb Space Telescope Overview, 29 pages, 4 figure

A descriptive study of some problems of widows in Portland, Oregon

Widowhood is an inevitable phase of the life cycle for three out of every four married women. It is apparent by the lack of research about widowhood that it has been neglected as a developmental phase in the life cycle. Presently there are ten million widows in this country and their numbers are increasing each year. It is appalling that with a population this large, little attention has been directed towards research about widowhood. Other than recognizing that the widow may have financial problems for which Social Security provides assistance, few people realize what it means to be widowed. For these reasons, we decided to study the problems of widowhood. The purpose of this study is to examine the problems involved in widowhood and what might be helpful in dealing with them. In addition, another goal of this study is to increase public awareness about the plight of the widow

The Meaning of Genetic Research Results: Reflections from Individuals with and without a Known Genetic Disorder

In the debate about whether to return individual genetic results to research participants, consideration of the nature of results has taken precedence over contextual factors associated with different study designs and populations. We conducted in-depth interviews with 24 individuals who participated in a genotype-driven study of cystic fibrosis: 9 of the individuals had cystic fibrosis, 15 had participated as healthy volunteers, and all had gene variants of interest to the researchers. These interviews revealed that the two groups had different ideas about the meaningfulness of genetic results. Our findings point to the importance of understanding research context, such as participants’ relationship with the researcher and whether they have the disease condition under study, when considering whether to return individual results

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3

Multiple pterygium syndrome (MPS) is a phenotypically and genetically heterogeneous group of rare Mendelian conditions characterized by multiple pterygia, scoliosis, and congenital contractures of the limbs. MPS typically segregates as an autosomal-recessive disorder, but rare instances of autosomal-dominant transmission have been reported. Whereas several mutations causing recessive MPS have been identified, the genetic basis of dominant MPS remains unknown. We identified four families affected by dominantly transmitted MPS characterized by pterygia, camptodactyly of the hands, vertebral fusions, and scoliosis. Exome sequencing identified predicted protein-altering mutations in embryonic myosin heavy chain (MYH3) in three families. MYH3 mutations underlie distal arthrogryposis types 1, 2A, and 2B, but all mutations reported to date occur in the head and neck domains. In contrast, two of the mutations found to cause MPS in this study occurred in the tail domain. The phenotypic overlap among persons with MPS, coupled with physical findings distinct from other conditions caused by mutations in MYH3, suggests that the developmental mechanism underlying MPS differs from that of other conditions and/or that certain functions of embryonic myosin might be perturbed by disruption of specific residues and/or domains. Moreover, the vertebral fusions in persons with MPS, coupled with evidence of MYH3 expression in bone, suggest that embryonic myosin plays a role in skeletal development

De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

Freeman-Sheldon syndrome, or distal arthrogryposis type 2A (DA2A), is an autosomal-dominant condition caused by mutations in MYH3 and characterized by multiple congenital contractures of the face and limbs and normal cognitive development. We identified a subset of five individuals who had been putatively diagnosed with "DA2A with severe neurological abnormalities" and for whom congenital contractures of the limbs and face, hypotonia, and global developmental delay had resulted in early death in three cases; this is a unique condition that we now refer to as CLIFAHDD syndrome. Exome sequencing identified missense mutations in the sodium leak channel, non-selective (NALCN) in four families affected by CLIFAHDD syndrome. We used molecular-inversion probes to screen for NALCN in a cohort of 202 distal arthrogryposis (DA)-affected individuals as well as concurrent exome sequencing of six other DA-affected individuals, thus revealing NALCN mutations in ten additional families with "atypical" forms of DA. All 14 mutations were missense variants predicted to alter amino acid residues in or near the S5 and S6 pore-forming segments of NALCN, highlighting the functional importance of these segments. In vitro functional studies demonstrated that NALCN alterations nearly abolished the expression of wild-type NALCN, suggesting that alterations that cause CLIFAHDD syndrome have a dominant-negative effect. In contrast, homozygosity for mutations in other regions of NALCN has been reported in three families affected by an autosomal-recessive condition characterized mainly by hypotonia and severe intellectual disability. Accordingly, mutations in NALCN can cause either a recessive or dominant condition characterized by varied though overlapping phenotypic features, perhaps based on the type of mutation and affected protein domain(s)