Perceived barriers, recommendations, and resources for multistate licensure in the United States: A mixed-methods study of laboratory genetic counselors.

With genetic counselor licensure now available in 32 states, the number of laboratory genetic counselors (LGCs) who are required to be licensed in multiple states has risen substantially. Although previous studies have documented the complexity of the multistate licensing (MSL) process, there has been little research on the experiences of LGCs applying for and maintaining licensure. The purpose of this study was to identify perceived barriers, recommendations, and resources for LGCs pursuing MSL.

Abandoning the word Caucasian.

Traditionally, the field of genetics has used patient-reported genetic ancestry to assist in risk assessment, calculate detection rates, and understand residual risks for recessive or X-linked genetic diseases. Patient-reported genetic ancestry is useful for variant curation, based on practice guidelines from medical societies. Words used to describe a person's race, ethnicity, and genetic ancestry have changed over the last few centuries, especially in the last few decades.

Easing the burden of multi-state genetic counseling licensure in the United States: Process, pitfalls, and possible solutions.

State-based genetic counseling licensure creates standardization, ensures high-quality care, and supports the credentialing of genetic counselors (GCs) in the United States. However, it also has the unintended consequence of requiring substantial time and resources from genetic counselors who need to obtain licensure in multiple states. There is a wide range of variability among state licensure applications, required supporting documentation, verification processes, and cost-all of which are barriers for genetic counselors.

Knowledge, attitudes, and clinical experience of physicians regarding preimplantation genetic diagnosis for hereditary cancer predisposition syndromes.

Approximately 5-10% of cancers are caused by an inherited predisposition. Individuals affected by hereditary cancer are often concerned about transmitting a predisposition to cancer to their children. Preimplantation genetic diagnosis (PGD) is a technology that allows embryos without a deleterious mutation associated with a hereditary cancer syndrome to be identified and implanted.

Interaction between myosin heavy chain and troponin isoforms modulate cardiac myofiber contractile dynamics.

Coordinated expression of species-specific myosin heavy chain (MHC) and troponin (Tn) isoforms may bring about a dynamic complementarity to match muscle contraction speed with species-specific heart rates. Contractile system function and dynamic force-length measurements were made in muscle fibers from mouse and rat hearts and in muscle fibers after reconstitution with either recombinant homologous Tn or orthologous Tn. The rate constants of length-mediated cross-bridge (XB) recruitment (b) and tension redevelopment (k(tr)) of mouse fibers were significantly faster than those of rat fibers.

Differences in myofilament calcium sensitivity in rat psoas fibers reconstituted with troponin T isoforms containing the alpha- and beta-exons.

The carboxy terminus of fast skeletal muscle troponin T (fsTnT) is highly conserved. However, mutually exclusive splicing of exons 16 and 17 in the fsTnT gene results in the expression of either the alpha- or beta-fsTnT isoform. The alpha-isoform is expressed only in adult fast skeletal muscle, whereas the beta-isoform is expressed in varying quantities throughout muscle development.

Functional consequence of mutation in rat cardiac troponin T is affected differently by myosin heavy chain isoforms.

Cardiac troponin T (cTnT) is an essential component of the thin filament regulatory unit (RU) that regulates Ca2+ activation of tension in the heart muscle. Because there is coupling between the RU and myosin crossbridges, the functional outcome of cardiomyopathy-related mutations in cTnT may be modified by the type of myosin heavy chain (MHC) isoform. Ca2+ activation of tension and ATPase activity were measured in muscle fibres from normal rat hearts containing alpha-MHC isoform and propylthiouracil (PTU)-treated rat hearts containing beta-MHC isoform.

Troponin T modulates sarcomere length-dependent recruitment of cross-bridges in cardiac muscle.

The heterogenic nature of troponin T (TnT) isoforms in fast skeletal and cardiac muscle suggests important functional differences. Dynamic features of rat cardiac TnT (cTnT) and rat fast skeletal TnT (fsTnT) reconstituted cardiac muscle preparations were captured by fitting the force response of small amplitude (0.5%) muscle length changes to the recruitment-distortion model.

Increase in tension-dependent ATP consumption induced by cardiac troponin T mutation.

How different mutations in cardiac troponin T (cTnT) lead to distinct secondary downstream cellular remodeling in familial hypertrophic cardiomyopathy (FHC) remains elusive. To explore the molecular basis for the distinct impact of different mutations in cTnT on cardiac myocytes, we studied mechanical activity of detergent-skinned muscle fiber bundles from different lines of transgenic (TG) mouse hearts that express wild-type cTnT (WTTG), R92W cTnT, R92L cTnT, and Delta-160 cTnT (deletion of amino acid 160). The amount of mutant cTnT is approximately 50% of the total myocellular cTnT in both R92W and R92L TG mouse hearts and approximately 35% in Delta-160 TG mouse hearts.

Repeated low level formaldehyde exposure produces enhanced fear conditioning to odor in male, but not female, rats.

Multiple chemical sensitivity (MCS) is an ill-defined disorder in humans attributed to exposure to volatile organic compounds. This study draws on apparent parallels between individuals with posttraumatic stress disorder (PTSD) and panic disorder and a subset of those reporting MCS, using a conditioned fear task in rats. Male and female Sprague-Dawley rats were given repeated exposure to 2 ppm formaldehyde (Form) (1 h/day x 5 days/week x 4 week) or air, and after 2-3 weeks, rats were trained on the conditioned fear task.