Dysmorphic features and learning disability in an adult male with pure partial trisomy 17q24-q25 due to a terminal duplication

We describe an adult male with severe learning disability, epilepsy, and dysmorphic features. Cytogenetic studies demonstrated a terminal duplication of the long arm of chromosome 17, resulting in partial trisomy 17q24-q25. Our patient shows some of the characteristic features of the distal 17q phenotype, but in addition has more unusual features such as epilepsy, sensorineural hearing loss, and long fingers and overlapping toes. We suggest that these features occur with terminal duplications of 17q.     

RNA interference screening in ticks for identification of protective antigens

Ticks are ectoparasites of wild and domestic animals and humans, and are considered to be the most important arthropod vector of pathogens in North America. Development of vaccines directed against tick proteins may effect reduction of tick infestations and transmission of tick-borne pathogens. The limiting step for the development of tick vaccines has been the identification of tick protective antigens. Reverse vaccinology approaches aimed at reducing animal experimentation while allowing for the rapid screening of pools of potential tick vaccine candidates would greatly facilitate progress towards the development of tick vaccines. Herein, we describe the screening of Ixodes scapularis cDNAs for identification of tick protective antigens using RNA interference (RNAi). The results of the RNAi screening were similar to those obtained previously using expression library immunization and demonstrated that RNAi could serve as a more rapid and cost-effective tool for vaccine antigen discovery in ticks and in other nonmodel organisms.     

Stress, coping, and hepatitis B antibody status

OBJECTIVE: The present study investigated the association between exposure to stressful life events, coping style, and antibody status after hepatitis B vaccination. METHODS: Two hundred sixty medical school undergraduates, who had received the three-dose hepatitis B vaccine before recruitment to this study, completed questionnaires measuring exposure to stressful life events during the past year, customary coping strategies, and health behaviors. Antibodies against hepatitis B surface antigen were determined; levels <100 mIU/ml were deemed inadequate. RESULTS: Two participant cohorts were identified: those vaccinated within the last year and those vaccinated earlier. In the early vaccination cohort, participants with greater-than-average stress exposures had a more than two-fold increased risk of having an inadequate antibody titer. Coping by accepting the reality of stressful situations proved protective, whereas coping by substance use increased the risk of having an inadequate antibody count in this cohort. These associations remained significant after adjustment for possible mediators. Furthermore, the effects of stress and coping were largely independent of one another. Neither stress nor coping was significantly associated with antibody status in the recently vaccinated cohort. CONCLUSIONS: The present study confirms that the immune system is sensitive to variations in psychological factors. Stressful life events and coping strategy seem to have a continuing impact on hepatitis B antibody status.     

Immunoelectron microscopy of Kell and Cellano antigens on red cell ghosts

The ultrastructural arrangement of Kell (K1) and Cellano (K2) antigens on red cells was studied using ferritin-conjugated rabbit antihuman IgG to stain ghosts derived from antibody-sensitized intact red cells. Estimates of the number of sites under equilibrium binding were obtained by counting both ferritin grains and ferritin clusters on electron micrographs. Values for Kell sites on heterozygous red cells ranged from 2300 to 5900 and for Cellano sites from 2000 to 5000 with no discernible dosage effects. Both the Kell and Cellano antigens were clustered, which was due to conjugate staining of the ghost membranes and does not reflect the topological arrangement of these antigens on the native membrane. The ferritin grain patterns found with the Kell and Cellano antigens was similar to those observed with the Rh antigens except for the markedly reduced antigen site density.     

Molecular cloning of the genomes of poliovirus type 3 strains by the cDNA: RNA hybrid method

Summary The genomes of two neurovirulent strains of poliovirus type 3, wild type P3/Leon/37 and a vaccine revertant P3/119/70, have been cloned inE. coli. The cDNA:RNA hybrid method used was efficient and may have wide applicability for cDNA cloning. Overlapping clones spanning the entire genome were obtained for each strain. These have been used to produce full-length DNA copies of the two genomes each within a single plasmid.With 6 Figures     

IL-10 regulates early IL-12-mediated immune responses induced by the radiation-attenuated schistosome vaccine

Radiation-attenuated (RA) schistosomes penetrate the host via the skin where they stimulate intense inflammatory reactions and the release of pro-inflammatory IL-12, important for T(h)1-type immune responses which are partially host protective. However, RA larvae also induce the secretion of regulatory IL-10. We now show that following vaccination of IL-12p40(-/-) mice, abundant IL-10 was produced by in vitro cultured skin biopsies between days 4 and 14, corresponding to the down-regulation of MHC II expression by cells in the dermis and cells that emigrate from the skin. In IL-10(-/-) mice, inflammation of the vaccination site was increased with larger numbers of IL-12p40(+), MHC II(+) and CD86(+) cells in the dermal exudate, and was associated with elevated levels of skin-derived IL-12p40 and IL-1beta. These changes in IL-10(-/-) mice were also reflected by an increased number of cells in the skin-draining lymph nodes (sdLN) and greater levels of lymphocyte proliferation. Moreover, such mice had increased numbers of CD4(+) sdLN cells that were CD25(+), CD28(+) or CD152(+) and accessory cells that were CD40(+) or MHC II(+). Finally, the secretion of IFN-gamma (and IL-12p40) by in vitro cultured sdLN cells was substantially raised in IL-10(-/-) mice, but much reduced in IL-12p40(-/-) mice, resulting in the development of highly polarized T(h)1 and T(h)2 cytokine profiles in the two groups of mice respectively. We conclude that IL-10 has an important role early in the regulation of IL-12-mediated priming of acquired immune responses, and effectively contains excessive dermal inflammation and prevents the development of highly polarized T(h)1-type responses.     

Associations of place of birth with asthma and wheezing in Mexican American children

BACKGROUND: There are wide global variations in the prevalence of asthma and wheezing. OBJECTIVES: We examined the associations of place of birth with doctor-diagnosed asthma, wheezing in the past 12 months, and other allergic conditions in Mexican American children. METHODS: The study used data on 4121 Mexican American children age 2 months to 16 years who participated in the Third National Health and Nutrition Examination Survey. RESULTS: The risk of asthma was associated with being born in the United States after adjusting for sex, age, history of ear infection, and having a regular place for health care (odds ratio, 2.19; 95% CI, 1.09-4.40). Among children with no previous history of ear infection, US-born children were more likely to report wheezing in the past 12 months than their peers born in Mexico after controlling for confounding variables (odds ratio, 2.05; 95% CI, 1.09-3.87). Mexican American children born in the United States were more likely to have positive skin reaction to cat, house mite, Alternaria alternata , peanut, Bermuda grass, and short ragweed but were less likely to have a positive skin test to German cockroaches after adjusting for sex, age, ear infection, having a regular place for health care, and area of residence. CONCLUSION: Our study indicated significant associations of place of birth with respiratory symptoms and allergic conditions in Mexican American children. These findings highlight the need for further studies to examine environmental factors that change by migration and explain the observed differential in the risk of asthma or wheezing.     

Clinical utility of PTSD,resilience, sleep,and blast as risk factors to predict poor neurobehavioral functioning following traumatic brain injury: A longitudinal study in U.S. military service members

Quality of Life Research - This study examined the clinical utility of post-traumatic stress disorder (PTSD), low resilience, poor sleep, and lifetime blast exposure as risk factors for predicting...     

Toward ‘seeing’ critically: a Bayesian analysis of the impacts of a critical pedagogy

Advances in Health Sciences Education - Critical reflection supports enactment of the social roles of care, like collaboration and advocacy. We require evidence that links critical teaching...     

Diet Quality of Elite Australian Athletes Evaluated Using the Athlete Diet Index

While athletes’ nutrient intakes have been widely reported, few studies have assessed the diet quality of athletes. This is the first study to evaluate the diet quality of athletes using the purpose-built Athlete Diet Index (ADI). A convenience sample of 165 elite athletes from Australian sporting institutions completed the ADI online, with subsequent automated results provided to their respective accredited sports dietitians (ASDs). At the completion of athlete participation, ASDs (n = 12) responded to a range of survey items using a Likert scale (i.e., 1 = strongly agree to 5 = strongly disagree) to determine the suitability of the ADI in practice. Differences in ADI scores for demographics and sport-specific variables were investigated using independent t-tests, analysis of variance (ANOVA) and Bonferroni multiple comparisons. Spearman’s rank correlation was used to assess the association between total scores and demographics. The mean total ADI score was 91.4 ± 12.2 (range 53–117, out of a possible 125). While there was no difference in total scores based on demographics or sport-specific variables; team sport athletes scored higher than individual sport athletes (92.7 vs. 88.5, p < 0.05). Athletes training fewer hours (i.e., 0–11 h/week) scored higher on Dietary Habits sub-scores compared with athletes training more hours (≥12 h/week; p < 0.05), suggesting that athletes who train longer may be at risk of a compromised dietary pattern or less than optimal nutrition practices that support training. Most (75%) ASDs surveyed strongly agreed with the perceived utility of the ADI for screening athletes and identifying areas for nutrition support, confirming its suitability for use in practice.