Identification of a novel splice variant of the haloacid dehalogenase: PHOSPHO1

PHOSPHO1, a new member of the haloacid dehalogenase superfamily, has recently been implicated in the mineralization process in both osteoblasts and chondrocytes. In this study we describe the identification of a novel, alternatively spliced PHOSPHO1 transcript (PHOSPHO1-3a). This transcript contains the three exons of the previously published variant, however exon 3 contains a retained, 127bp section of intron 2. This forms an in-frame start site, producing an open reading frame of 879bp and predicting a protein of 292 amino acids. The novel 40 amino acid N-terminal region of PHOSPHO1-3a contains a relatively strong secretory signal, however all three domains of the HAD superfamily are retained in exon 3. The expression of this splice variant was confirmed in both human and mouse osteoblast-like cells and also in the chondrogenic ATDC5 cell line. The data within this study indicate a possible function relating to chondrocyte differentiation/mineralization as with the previously published variant

Female undergraduate\u27s perceptions of intrusive behavior in 12 countries

The present study examines young women\u27s (N = 1,734) perceptions of the unacceptability of 47 intrusive activities enacted by men. Female undergraduate psychology students from 12 countries (Armenia, Australia, England, Egypt, Finland, India, Indonesia, Italy, Japan, Portugal, Scotland, Trinidad) indicated which of 47 intrusive activities they considered to be unacceptable. Responses were compared with parasite-stress values, a measure of global gender equality and Hofstede\u27s dimensions of national cultures. There was no unanimous agreement on any of the items, even for those relating to forced sexual violence. Cluster analysis yielded four clusters: “Aggression and surveillance” (most agreement that the constituent items were unacceptable), “Unwanted attention,” “Persistent courtship and impositions,” and “Courtship and information seeking” (least agreement that the constituent items were unacceptable). There were no significant relationships between the “Aggression and surveillance” or “Courtship and information seeking” clusters and the measure of gender equality, Hofstede\u27s dimensions of national cultures or the measure of parasite stress. For the “Unwanted attention” and “Persistent courtship and impositions” clusters, women residing in countries with higher gender inequality and higher parasite-stress were less accepting of behavior associated with uncommitted sexual relations, and women in more individualistic societies with higher levels of gender equality were less accepting of monitoring activities. Culture may take precedence over personal interpretations of the unacceptability of intrusive behavior that is not obviously harmful or benign in nature

Racial and Ethnic Differences in Directâ toâ Consumer Genetic Tests Awareness in HINTS 2007: Sociodemographic and Numeracy Correlates

To examine the association of 1) race/ethnicity and 2) numeracy with awareness of DTC genetic tests. Secondary analysis of 6,754 Hispanic, black, and white adult respondents to the National Cancer Institute’s 2007 Health Information National Trends Survey (HINTS). Logistic regression was used to examine sociodemographic predictors of DTC genetic tests awareness including race/ethnicity, income, education, and gender. Next, two numeracy variables were added to the model. After controlling for sociodemographic variables, black respondents were significantly less likely to have heard of DTC genetic tests compared to white respondents (ORâ =â 0.79; CI: 0.65â 0.97). When numeracy variables were added to the model, the effect of black race was no longer significant (ORâ =â 0.84; CI: 0.69â 1.04). Hispanic respondents did not significantly differ from white respondents in awareness of DTC genetic tests. Other significant correlates of DTC genetic tests awareness in the full model included education, income, age, and numeracy variables including degree to which people use medical statistics and numbers to make health decisions, and preference for words or numbers when discussing â the chance of something happening.â Although black respondents were generally less aware of DTC genetic tests than white respondents, this relationship appears to be partially mediated by numeracy.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/146912/1/jgc40440.pd

Response to Letter Written by Shelly Cummings, MS, CGC of Myriad Genetics Laboratories, Inc. Regarding the Paper, â Racial and Ethnic Differences in Directâ toâ Consumer Genetic Tests Awareness in HINTS 2007: Sociodemographic and Numeracy Correlates.â J Genet Counsel (2012) 21:440â 447

Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/147095/1/jgc40154.pd

Living at Risk: The Sibling’s Perspective of Early‐Onset Alzheimer’s Disease

Early‐onset Alzheimer’s disease (EOAD) is an increasingly diagnosed condition and is associated with genetic risk factors. This is one of the first studies exploring the lived experience of siblings of individuals with EOAD. We used structured questionnaires and semi‐structured interviews to assess a broad range of siblings’ experiences with and beliefs about EOAD, including knowledge, perceptions of personal risk, level of worry, and effects on life decisions. Participants (n = 24) were predominantly female (62.5%) and middle‐aged (mean = 56.8 years; range 37–83). When asked about risk factors, genetics was cited most frequently (62.5%). Several potential means of reducing AD risk were endorsed, with 54% reporting engagement in behaviors for this purpose (e.g., keeping mentally active). Participants ranged widely in their perceived personal risk of AD (range: 0–100; mean = 35.6%), with higher perceived risk associated with worry about AD (p < 0.01). Understanding siblings’ experiences with EOAD can inform how genetic counselors and healthcare professionals work with this population to facilitate risk communication and decision‐making about testing and healthcare.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/147019/1/jgc40239.pd

Percutaneous Thrombin Injection for Treatment of a Splenic Artery Aneurysm

AbstractSplenic artery aneurysms are an uncommon entity and are usually asymptomatic when diagnosed. Treatment is based on size, with aneurysms greater than 2 cm usually undergoing surgical repair. We present a case in which percutaneous thrombin injection was used for treatment of a splenic artery aneurysm

Biomimetic strategies for fracture repair: engineering the cell microenvironment for directed tissue formation

Complications resulting from impaired fracture healing have major clinical implications on fracture management strategies. Novel concepts taken from developmental biology have driven research strategies towards the elaboration of regenerative approaches that can truly harness the complex cellular events involved in tissue formation and repair. Advances in polymer technology and a better understanding of naturally derived scaffolds have given rise to novel biomaterials with an increasing ability to recapitulate native tissue environments. This coupled with advances in the understanding of stem cell biology and technology has opened new avenues for regenerative strategies with true clinical translatability. These advances have provided the impetus to develop alternative approaches to enhance the fracture repair process. We provide an update on these advances, with a focus on the development of novel biomimetic approaches for bone regeneration and their translational potential