Genetic and Rare Disease Diagnoses: A Review of Resources for Patients and Health Care Professionals

Abstract

This article reviews genetic and rare disease resources from the National Library of Medicine and National Institutes of Health that assist patients and their families to decipher the complexity of rare and genetically related diseases. Librarians can use these resources to guide those seeking genetic information that encompasses the medical, social, psychological, and financial aspects of living with a rare disease. Physicians and healthcare professionals will find these resources helpful when assisting patients and engaging in genetic research.     

When do Online Audiences Amplify Benefits of Self-Disclosure? The Role of Shared Experience and Anticipated Interactivity

ABSTRACT

As individuals increasingly write about their distressing experiences online, it is important to understand how perceived online audiences influence the effects of self-disclosure. In an experiment, participants wrote about recent breakups for online audiences purportedly varying in 1) whether they shared recent breakup experiences and 2) their ability to leave comments. Participants perceiving audiences with shared experience showed more cognitive processing in their writing and reported increased post-traumatic growth at follow-up than participants perceiving general audiences. Those anticipating comments wrote less about emotions than those who did not. Mechanisms accounting for the benefits of shared experience warrant further investigation.     

Foreign correspondence: journalism in the Germaine Greer Archive

Germaine Greer’s print journalism forms a significant portion of her archive. It needs to be reassessed and recognised as having equal value to her other types of writing. Greer’s journalism powers much of this major archive and it is important to acknowledge that this archive is as much a journalist’s one as it is the archive of a feminist, a performer or a literary scholar. Greer’s own methodical creation and re-creation of her print journalism legacy into a series of records in the Greer Archive is also an implicit argument for the value of her ‘smalls’. As a recordkeeper, she has gathered up ‘the madwoman’s underclothes’, the hundreds of articles published around the world.     

Taking the plunge into the gene pool: Teaching and learning in genetics

Genetics is an area of science that causes problems for children. This paper reviews initial findings from research into children's views of how inheritance works and the role this plays in their overall view of genetics. The implications these results have for the traditional approach to genetics education are outlined. An alternative approach is proposed. Specializations: teacher development, science and technology curriculum development.     

Living with a rare health condition: the influence of a support community and public stigma on communication,stress, and available support

People affected by rare diseases often have limited coping resources and sometimes face stigma. They build communities with others who share their conditions, but not all members may benefit from these communities. This study investigated how adults with a rare genetic health condition (Alpha-1 antitrypsin deficiency; AATD) think about both the Alpha-1 community and public stigma about AATD, and how these cognitions predict their communication responses and well-being. The results showed that people with AATD-encountered stigmatization from various sources. Stronger public stigma predicted more secrecy, more stress, and less available support. Stronger group identification with the Alpha-1 community predicted less secrecy; stronger group activism predicted more available support and more communication to challenge stigmatizers. Post hoc analyses showed significant interactions between public stigma and group cognitions on communication to challenge stigmatizers. Practical implications for bolstering communities to improve the well-being of people with rare diseases were discussed.     

The sbelling of sdops: Preliterate children’s spelling of stops after /s/

Newly literate children have a tendency to spell s-stop sequences in words like spin, stop, sky with B, D, G (SBIN, SDOP, SGY), rather than with standard P, T, K. This observation potentially has implications for theories of English phonology as well as of language and literacy acquisition. Understanding these implications, however, requires data about the spelling preferences of preliterate children. In this study, a training-and-transfer design was used to test these spelling preferences in preliterate children. Results confirm that these children relate words with stops after /s/ to words with initial /b, d, g/ rather than to words with initial /p, t, k/. The paper outlines several possible interpretations: that preliterate children have a different phonemic analysis from adults, that they believe spelling represents archiphonemes that they believe spelling represents allophones, and that their early spelling attempts track the phonetic surface. The data suggest rejection of the second interpretation and in our view favour the last over the remaining interpretations. Several theoretical issues are raised that need to be resolved before a full account of the data can be offered.     

Biochemical markers of brain injury: could they be used as diagnostic adjuncts in cases of inflicted traumatic brain injury?

Child abuse is the leading cause of serious traumatic brain injury (TBI) in infants and young children (Billmire & Myers, 1985; Bruce & Zimmerman, 1989). The incidence of serious or fatal inflicted traumatic brain injury (iTBI) in children < 1 year of age is approximately 1 in 3,300 ( Keenan et al., 2003); since many cases of iTBI are of mild or moderate severity, the incidence is probably significantly higher. Even at an incidence of 1 in 3,300, iTBI is as common as the incidence of cystic fibrosis (CF), the most common genetic recessive disease in the Caucasian population. Proper diagnosis of iTBI is difficult even for experienced and astute physicians because its presentation can be subtle and important historical data are often lacking. As a result, misdiagnosis is common and can have catastrophic medical consequences for patients and significant financial consequences for society ( Ewing-Cobbs et al., 1998; Jenny, Hymel, Pitzen, Reinert, & Hay, 1999). Unlike CF for which there are several well established screening tests, there are currently no diagnostic adjuncts to help physicians screen for possible iTBI.     

Exploratory insights from the right-sided electrocardiogram following prolonged endurance exercise

Background: Prolonged strenuous exercise has a profound effect on cardiac function. The right heart may be more susceptible to this imposition; yet, right-sided chest leads have not been utilised in this setting. Methods: Thirty highly trained athletes at the 2014 Western States 100-mile Endurance Run from Squaw Valley to Auburn, California (body mass 68?±?12?kg, age 45?±?10?years, 57?±?15?miles per week) were recruited for the study. Pre- and post-race, a right-sided 12-lead ECG was obtained and data were extracted for P, R and S waves, J point, ST segment and T wave amplitude. Data were compared using Students T-test and statistical significance set as P?Results: There was a significant increase in P wave amplitude (29%) and QTc interval (4%) pre- to post-race from standard 12-lead ECG. From the right-sided12-lead ECG, a 23% (P?=?.01) and 38% (P?=?.03) increase in J point amplitude in V1R and V2R and a 22% (P?=?.05) increase in ST segment integral in V2R and V3R were evident. T wave inversion was evident in leads V2R–V6R in 50–90% of athletes, respectively. Close examination revealed marked heterogeneity in individual ECGs. Conclusions: Completion of a 100-mile ultra-marathon resulted in significant changes in the right-sided ECG alongside more marked responses in specific individuals. P wave, ST segment and T wave changes post-race are indicative of acute exercise-induced right heart electrical adaptation.