If We Build It … Will They Come? – Establishing a Cancer Genetics Services Clinic for an Underserved Predominantly Latina Cohort

Background: Cancer genetic counseling and testing is a standard of care option for appropriate families and can identify individuals at increased risk prior to diagnosis, when prevention or detection strategies are most effective. Despite documented efficacy of cancer risk reduction in high-risk individuals, underserved and minority individuals have a disproportionate cancer burden and limited access to genetic counseling. Methods: A needs assessment survey documented gaps in knowledge and interest in prevention. Satellite clinics were established at two indigent healthcare systems. Cancer genetics CME lectures were conducted and referral guidelines disseminated to clinicians who referred patients for counseling. Results: An increase in clinician knowledge was demonstrated post-CME and reflected by quality referrals. Eighty-eight percent of patients kept their appointments. In the predominantly Latina⁶ (n=77) clinic population, 71.4% were affected with cancer, and 17 mutation positive families were identified. Preliminary data shows a positive impact on patients' motivation and behavior. The majority has expressed satisfaction and reduction in anxiety. Conclusions: This study demonstrates feasibility and acceptability of cancer genetics services in this population, suggesting the potential to reduce cancer morbidity in underserved, high-risk families.“Latino” is the most common census term for individuals of Spanish, Mexican, Central and South American, Cuban, or Puerto Rican descent, referring to ethnicity, and is generally considered a more ethnically/culturally based term for individuals of the aforementioned groups. As this cohort is female the feminine noun “Latina” is used     

Redundant visual signals boost saccade execution

The redundant signal effect (RSE) refers to the fact that human beings react more quickly to a pair of stimuli than to only one stimulus. In previous studies of the RSE in the oculomotor system, bimodal signals have been used as the goal of the saccade. In consistency with studies using manual response times (RTs), saccadic RTs have been shown to be shorter for redundant multimodal stimuli than for single unimodal stimuli. In the present experiments, we extended these findings by demonstrating an RSE in the saccadic system elicited only by unimodal visual stimuli. In addition, we found that shorter saccadic RTs were accompanied by an increased saccadic peak velocity. The present results are of relevance for neurophysiological models of saccade execution, since the boost of saccades was elicited by two visual transients (acting as a “go” signal) that were presented not at the goal of the saccade but at various other locations.     

Learning in the absence of experience-dependent regulation of NMDAR composition

Olfactory discrimination (OD) learning consists of two phases: an initial N-methyl-D-aspartate (NMDA) receptor-sensitive rule-learning phase, followed by an NMDA receptor (NMDAR)-insensitive pair-learning phase. The rule-learning phase is accompanied by changes in the composition and function of NMDARs at synapses in the piriform cortex, resulting in a high level of the NR2a subunit relative to NR2b. Here we show that the learning-induced changes in NMDAR composition in the adult piriform cortex are due to a decrease in the level of the NR2b subunit protein, rather than an increase in the level of NR2a. Chronic administration of an NMDAR open channel blocker during training delays OD learning and blocks learning-induced changes in NMDAR subunit composition. However, the animals still learn the OD task. Our data demonstrate that learning can occur in the absence of activity-dependent regulation of NMDAR composition, suggesting differences in the mechanism for long-term maintenance of NMDAR-dependent and NMDAR-independent learning.     

Childhood multiple sclerosis: a review

Multiple sclerosis (MS) is an autoimmune demyelinating disorder of the central nervous system (CNS) that is increasingly recognized as a disease that affects children. Similar to adult-onset MS, children present with visual and sensory complaints, as well as weakness, spasticity, and ataxia. A lumbar puncture can be helpful in diagnosing MS when CSF immunoglobulins and oligoclonal bands are present. White matter demyelinating lesions on MRI are required for the diagnosis; however, children typically have fewer lesions than adults. Many criteria have been proposed to diagnose MS that have been applied to children, mostly above 10 years of age. The recent revisions to the McDonald criteria allow for earlier diagnosis, such as after a clinically isolated event. However, children are more likely than adults to have monosymptomatic illnesses. None of the approved disease-modifying therapies used in adult-onset MS have been approved for pediatrics; however, a few studies have verified their safety and tolerability in children. Although children and adults with MS have similar neurological symptoms, laboratory (cerebrospinal fluid) data, and neuroimaging findings, the clinical course, pathogenesis, and treatment of childhood onset MS require further investigation.     

Astrocytes and developmental white matter disorders

There is an increasing awareness that the astrocytes in the immature periventricular white matter are vulnerable to ischemia and respond to inflammation. Here we provide a synopsis of the articles that have evaluated the causes and consequences of developmental brain injuries to white matter astrocytes as well as the consequences of several genetic mutations that result in abnormal astrocyte development. Emerging data suggest that the astrocytes are not simply responding to the injury but are likely victims as well as culprits. Given the important roles that astrocytes play in maintaining ionic, neurotransmitter, and metabolic homeostasis in the brain, a more thorough understanding of the mechanisms that lead to their incapacitation, demise, or reactions as well as a better understanding of the stimuli that regulate their neuroprotective and regenerative properties will enable these cells to be manipulated to preserve the integrity of white matter and to potentially provide therapeutics to enhance neonatal regeneration and recovery from brain injury.     

Risk attitude in small timesaving decisions

Four experiments are presented that explore situations in which a decision maker has to rely on personal experience in an attempt to minimize delays. Experiment 1 shows that risk-attitude in these timesaving decisions is similar to risk-attitude in money-related decisions from experience: A risky prospect is more attractive than a safer prospect with the same expected value only when it leads to a better outcome most of the time. Experiment 2 highlights a boundary condition: It suggests that a difficulty in ranking the relevant delays moves behavior toward random choice. Experiments 3 and 4 show that when actions must be taken during the delay (thereby helping compare delays), this increases the similarity of timesaving decisions to money-related decisions. In these settings the results reflect an increase in risk aversion with experience. The relationship of the results to the study of non-human time-related decisions, human money-related decisions and human time perception is discussed.     

Play it again with feeling: computer feedback in musical communication of emotions

Communication of emotions is of crucial importance in music performance. Yet research has suggested that this skill is neglected in music education. This article presents and evaluates a computer program that automatically analyzes music performances and provides feedback to musicians in order to enhance their communication of emotions. Thirty-six semi-professional jazz /rock guitar players were randomly assigned to one of 3 conditions: (1) feedback from the computer program, (2) feedback from music teachers, and (3) repetition without feedback. Performance measures revealed the greatest improvement in communication accuracy for the computer program, but usability measures indicated that certain aspects of the program could be improved. Implications for music education are discussed.