Emery-Dreifuss muscular dystrophy (EDMD1) is caused by mutations in either the X-linked gene emerin (EMD) or the autosomal lamin A/C (LMNA) gene. Here, we describe the derivation of mice lacking emerin in an attempt to derive a mouse model for EDMD1. Although mice lacking emerin show no overt pathology, muscle regeneration in these mice revealed defects. A bioinformatic array analysis of regenerating Emd null muscle revealed abnormalities in cell-cycle parameters and delayed myogenic differentiation, which were associated with perturbations to transcriptional pathways regulated by the retinoblastoma (Rb1) and MyoD genes. Temporal activation of MyoD transcriptional targets was significantly delayed, whereas targets of the Rb1/E2F transcriptional repressor complex remained inappropriately active. The inappropriate modulation of Rb1/MyoD transcriptional targets was associated with up-regulation of Rb1, MyoD and their co-activators/repressors transcripts, suggesting a compensatory effort to overcome a molecular block to differentiation at the myoblast/myotube transition during regeneration. This compensation appeared to be effective for MyoD transcriptional targets, although was less effective for Rb1 targets. Analysis of Rb1 phosphorylation states showed prolonged hyper-phosphorylation at key developmental stages in Emd null myogenic cells, both in vivo and in vitro. We also analyzed the same pathways in Lmna null muscle, which shows extensive dystrophy. Surprisingly, Lmna null muscle did not show the same perturbations to Rb- and MyoD-dependent pathways. We did observe increased transcriptional expression of Lap2alpha and delayed expression of Rb1, which may regulate alternative transcriptional pathways in the Lmna null myoblasts. We suggest that the dominant LMNA mutations seen in many clinically disparate laminopathies may similarly alter Rb function, with regard to either the timing of exit from the cell cycle or terminal differentiation programs or both.
BackgroundThere is considerable potential for mobile technologies to empower pediatric patients and families by improving their communication with health professionals. National surveys suggest minority parents frequently communicate via mobile technology, but it is uncertain how amenable they are to receiving health care information in this format. Although the low cost and far reach characteristics of mobile health (mHealth) technology makes it advantageous for communication with minority parents, data on acceptance are needed.ObjectiveThe objective of the study was to determine utilization of mobile and Internet technology by African American parents in an urban, underserved population, and to assess their interest in receiving health information via text messaging or other technologies (eg, social media and the Internet).MethodsA survey was administered to parents of children aged 1-12 years covered by public insurance receiving care at 3 pediatric primary care centers in Washington, DC.ResultsThe African American sample (N=302) was composed of primarily single (75.8%, 229/302) mothers. Almost half had more than a high school education (47.7%, 144/302) and incomes above US $25,000 per year (43.0%, 130/302). Most (97.0%, 293/302) reported owning a cell phone, of which 91.1% (275/302) used it to text and 78.5% (237/302) used it to access the Internet. Most had service plans with unlimited text and data, but 26.5% (80/302) experienced service interruptions in the previous year. Home Internet access was more prevalent among those with higher income (86.2%, 112/130), but it was still relatively pervasive among lower income families (66.9%, 83/124). In adjusted logistic regression models, African American mothers with income greater than US $25,000 annually were 4 times as likely to own a tablet computer than their lower income counterparts. Of the participants, 80.8% (244/302) used social networking, primarily Facebook, and 74.2% (224/302) were interested in joining a social networking group about a health topic concerning their child. Although relatively few African American mothers (17.9%, 54/302) shared health information via texting, there was strong interest in receiving health information via mobile phones (87.4%, 264/302). There was no significant difference in Internet/mobile device use or interest in using these outlets to send/receive information about their children’s health between parents of healthy children and parents of children with chronic health conditions.ConclusionsUrban African American parents are active users of the Internet and mobile technology for social interactions, but they are less likely to use it for accessing or communicating health information. However, most parents expressed an interest in receiving health information or utilizing social networking to learn more about health topics. Mobile technology and social networks may be an underutilized method of providing health information to underserved minority populations.
Using data from a racially and ethnically diverse sample of low-income mothers of two-year-old children participating in the Early Head Start Research and Evaluation Project (N = 883), fathers' education and employment, mother-father relationship, and mothers' relationships with kin in the household were examined to explain variation in nonresident father involvement across racial and ethnic groups. Nonresident White fathers were less involved with their children than African-American and Latino fathers. This difference was explained by the status of mother-father relationships. White nonresident fathers were less likely than minority nonresident fathers to maintain romantic relationships with their child's mother. Mothers in the White father group were also more likely to re-partner, which negatively related to biological fathers' involvement. These findings suggest that approaches to strengthen nonresident father involvement in children's lives need to consider how father ethnicity and mother-father relations are associated with differential patterns of father involvement.
Although fathers' stress has been shown to have important implications for children's health and well-being, few studies of children with type 1 diabetes have considered paternal parenting stress. The current study contributes to the literature by exploring correlates of fathers' pediatric parenting stress in a sample of young children with type 1 diabetes. Forty-three fathers of children 2-6 years old with type 1 diabetes completed self-report questionnaires examining pediatric parenting stress, child behavior, participation in diabetes management tasks, and parental psychological resources. Results of multiple regression show that fathers' pediatric parenting stress is positively associated with state anxiety and mother-reported difficult child behavior. These findings suggest that fathers may experience parenting stress differently than mothers, and that their experiences may have implications not only for their own level of anxiety, but also for their children's behavior.
workforce diversity will expand the talent of the applicant pool and may reduce health care disparities.OBJECTIVE To assess US cardiology physician workforce demographics by sex and race/ethnicity in the context of the US population and the available pipelines of trainees. DESIGN, SETTING, AND PARTICIPANTSThis cross-sectional study used data from the Association of American Medical Colleges, the American Medical Association, and the American Board of Internal Medicine to stratify medical students, resident physicians, fellows, and cardiologists by sex and race/ethnicity. Additionally, proportional changes from 2006 through 2016 were assessed for adult and pediatric cardiology. Data analysis took place from August 2018 to January 2019. MAIN OUTCOMES AND MEASURES Percentage of cardiologists and trainees by sex and race/ethnicity in 2016, as well as changes in proportions between 2006 and 2016.RESULTS Despite a high percentage of female internal medicine resident physicians (10 765 of 25 252 [42.6%]), female physicians were underrepresented in adult general cardiology fellowships (584 of 2720 [21.5%]) and procedural subspecialty fellowships (interventional cardiology, 30 of 305 [9.8%]; electrophysiology, 24 of 175 [13.7%]). The percentage of female adult cardiologists slightly increased from 2006 through 2016 (from 8.9% to 12.6%; slope, 0.36; P < .001) but remained low. Female physicians made up a disproportionately higher number of pediatric residency positions (6439 of 8832 [72.9%]). Trends showed an increase in female pediatric cardiology fellows (from 40.4% to 50.5%; slope, 1.25; P < .001), which resulted in an increase in the percentage of female pediatric cardiologists (from 27.1% to 34.0%; slope, 0.64; P < .001). The percentages of members of underrepresented minority groups in adult and pediatric cardiology fellowships (from 11.1% to 12.4%; slope, 0.15; P = .01; and from 7.7% to 9.9%; slope, 0.29; P = .009; respectively) were low and increased only slightly over time. Additionally, members of underrepresented minorities made up less than 8% of practicing adult and pediatric cardiologists. Although Asian individuals are 5.2% of the US general population, they are not considered underrepresented because they are 22.1% of US medical school graduates (n = 4202 of 18 999), 38.1% of internal medicine resident physicians (n = 9618 of 25 252), 40.4% of adult cardiology fellows (n = 1098 of 2720), 19.9% of adult cardiologists (n = 5973 of 30 016), 22.6% of pediatric resident physicians (n = 1998 of 8832), 28.0% of pediatric cardiology fellows (n = 122 of 436), and 20.1% of pediatric cardiologists (n = 574 of 2860).CONCLUSIONS AND RELEVANCE Female physicians remain underrepresented in adult cardiology, despite a robust pipeline of female medical students and internal medicine resident physicians. Women in pediatric cardiology are underrepresented but increasing in number. Members of several racial/ethnic minority groups remain underrepresented in adult and pediatric cardiology, and the percentages of trainees and medi...
The present study examines the associations between Mexican American mothers' and fathers' pregnancy intentions, fathers' participation in prenatal activities and mother-infant interactions and father engagement with 9 month-old infants in a nationally representative sample of 735 infants and their parents participating in the Early Childhood Longitudinal Study -Birth Cohort. After controlling for a host of variables, multiple regressions revealed that when mothers wanted the pregnancy, fathers engaged in more literacy and caregiving activities than when mothers did not want the pregnancy. When couples disagreed about wanting the pregnancy, fathers engaged in more literacy activities and showed more warmth than when they agreed. Relationship quality significantly moderated the effects of parents' wantedness on mother-infant interactions and fathers' engagement in literacy activities.
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