Maternal serum alpha-fetoprotein screening activities of state health agencies: a survey.

Maternal serum alpha-fetoprotein (MSAFP) screening has been demonstrated to be cost-effective on a population basis and is becoming standard practice. The American Society of Human Genetics has twice published policy statements to define the essential elements of a quality screening program. The present study reviewed the impact of these policy statements on state public-health agencies with respect to regulation or provision of MSAFP screening in their jurisdictions. With a few exceptions, states have not elected to play a major role in provision or regulation of this test. There is need to address issues of funding, standards, and data collection in a collaborative effort, if policy statements on genetic services are to be translated into effective state population screening.     

ASHG activities relative to education: Human genetics as a component of medical school curricula: A report to the American society of human genetics

In recent years, there has been a remarkable increase in both the rate of acquiring new information about human genetics and the importance of human genetics for modern health care. As a result, human genetics educators have queried whether the teaching of human genetics in North-American medical schools has kept pace with these increases. To address this question, a survey of these medical schools was undertaken to assess how human geneticists perceive the teaching of human genetics in their respective institutions. The results of the survey, begun and completed in 1985, indicate the following: (1) the teaching of human genetics in medical schools is extremely variable from one institution to another, with some schools having no identifiable human genetics teaching at all; (2) the relevance of human genetics to other basic science and clinical disciplines apparently leads to noncategorical or fragmented teaching of human genetics, which may also contribute to the absence of a specific medical school course in the subject; and (3) there is a need for closer collaboration between human genetics educators and their respective medical school administrators and curriculum committees.     

ASHG/NSGC activities related to education. The doctoral degree in genetic counseling: attitudes of genetic counselors.

All 565 full members of the National Society of Genetic Counselors were surveyed in September 1989 to assess their attitudes toward a potential doctoral degree in genetic counseling. The usable return rate was 59.6% (337/565) of the full membership. One hundred eighty (54.4%) respondents indicated a need for a doctoral degree in genetic counseling, 101 (30.5%) were undecided as to the need, and 50 (15.1%) did not see a need for such a degree. One hundred forty-seven (44.3%) respondents indicated their individual interest in pursuing a doctorate in genetic counseling, 109 (32.8%) would not pursue such a degree, and 76 (22.9%) were undecided. Beyond the generally accepted feeling that genetic counseling should expand as a professional field, the reasons cited most often for seeking the Ph.D. in genetic counseling were professional recognition, a desire to specialize in a particular area, and greater depth of knowledge. The study revealed a strongly positive attitude, among full members of the NSGC, toward establishment of a doctoral degree in genetic counseling.     

N-Acetylglucosaminidase activities in wetlands: a global survey

A fluorogenic model substrate, methylumbelliferyl-N-acetylglucosamine was used to measure N-acetylglucosaminidase activities in wetland soils. The enzyme activity exhibited substrate saturation around 200 M, and an approximate linearity for at least 90 min incubation time. The effects of temperature, pH, toluene, and -radiation on the enzyme were also determined. The method was applied to 32 different wetland samples from both freshwater wetlands and salt-water wetlands. Overall, the activities were the lowest in bogs and much higher in freshwater marshes and flooded grasslands. The variations of the activity were not explained by a single environmental variable. However, among peatland samples (e.g., bogs and fens) only, specific enzyme activity per organic matter exhibited a significant correlation with N-acetylglucosaminidase activity, suggesting the importance of the enzyme activity in organic matter dynamics in such systems.     

Pacemaker patients' perception of unsafe activities: a survey

Background

The ankle brachial index (ABI) is a well-established tool for screening and diagnosis of peripheral arterial disease (PAD). In this study we assessed the validity of ABI determination using a pocket Doppler device compared with automatic vascular laboratory measurement in patients suspected of PAD.

Methods

Consecutive patients with symptoms of PAD referred for ABI measurement between December 2006 and August 2007 were included. Resting ABI was determined with a pocket Doppler, followed by ABI measurement with automatic vascular laboratory equipment, performed by an experienced vascular technician. The leg with the lowest ABI was used for analysis.

Results

From 99 patients the mean resting ABI was 0.80 measured with the pocket Doppler and 0.85 measured with vascular laboratory equipment. A Bland-Altman plot demonstrated great correspondence between the two methods. The mean difference between the two methods was 0.05 (P < .001). Multivariate linear regression analysis showed no dependency of the difference on either the average measured ABI or affected or unaffected leg.

Conclusion

Since the small, albeit statistically significant, difference between the two methods is not clinically relevant, our study demonstrates that ABI measurements with pocket Doppler and vascular laboratory equipment yield comparable results and can replace each other. Results support the use of the pocket Doppler for screening of PAD, allowing initiation of cardiovascular risk factor management in primary care, provided that the equipment operator is experienced.     

Trypanosoma brucei: a survey of pyrimidine transport activities

Purine uptake has been studied in many protozoan parasites in the last few years, and several of the purine transporters have been cloned. In contrast, very little is known about the salvage of preformed pyrimidines by protozoa, and no pyrimidine transporters have been cloned, yet chemotherapy based on pyrimidine nucleobases and nucleosides has been as effective as purine antimetabolites in the treatment of infectious and neoplastic disease. Here, we surveyed the presence of pyrimidine transporters in Trypanosoma brucei brucei. We could not detect any mediated uptake of thymine, thymidine or cytidine, but identified a very high-affinity transporter for cytosine, designated C1, with a K(m) value of 0.048+/-0.009 microM. We also confirmed the presence of the previously reported U1 uracil transporter and found it capable of mediating uridine uptake as well, with a K(m) of 33+/-5 microM. A higher-affinity U2 uridine transporter (K(m)=4.1+/-2.1 microM) was also identified, but efficiency of the C1 and U2-mediated transport was low. Pyrimidine antimetabolites were tested as potential trypanocidal agents and only 5-fluorouracil was found to be effective. This drug was efficiently taken up by bloodstream forms of T. b. brucei.     

Sex and gender in medical education: a national student survey

Background

Gender- and sex-specific medicine is defined as the practice of medicine based on the understanding that biology (dictated by sex chromosomes) and social roles (gender) are important in and have implications for prevention, screening, diagnosis, and treatment in men and women. In light of the many ways that sex and gender influence disease presentation and patient management, there have been various initiatives to improve the integration of these topics into medical education curriculum. Although certain schools may include the topics, their impact on the student body’s knowledge has not been as fully studied. By studying the opinions of US allopathic and osteopathic-enrolled students on the extent to which their schools address these topics and their understanding of these topics, this study examined the role of gender specific medicine in the US medical school curriculum.

Methods

An email solicitation with link to an anonymous survey was sent to approximately 35,876 student members of five US medical student organizations. The survey instrument consisted of yes/no, multiple choice, and attitude awareness questions. Data was analyzed as a complete data set to evaluate national trends and via subset analysis using chi-square, paired t test, and one-way anova.

Results

A total of 1097 students responded. The majority of respondents strongly agreed that sex and gender medicine (SGBM) improves patient management (96.0 %) and should be included as a part of the medical school curriculum (94.4 %). Only 2.4 % of participants agreed that SGBM is the same as Women’s Health. When asked specifically about inclusion of an identified sex and gender-based medicine curriculum at their institution, students answered not sure at 40.8, 25.1, 19.1, and 20.3 % from first year to fourth year, respectively. Males reported a higher rate of exposure to SGBM content areas (in medical history taking, domestic violence) than women.

Conclusions

Medical students recognize the differentiation between SGBM principles and women’s health, and understand the translational value of sex and gender-specific principles in the clinical setting. However, current curricular offerings fall short of providing students with adequate coverage of specific evidence-based health differences.

     

关于笑窝遗传方式的探讨

为了探讨笑窝的遗传方式,对２６个笑窝家系进行了调查和分析,初步认主笑窝为常染色体不规则显性遗传。     

Metabolic and ventilatory responses to steady state exercise relative to lactate thresholds

The metabolic and ventilatory responses to steady state submaximal exercise on the cycle ergometer were compared at four intensities in 8 healthy subjects. The trials were performed so that, after a 10 min adaptation period, power output was adjusted to maintain steady state VO2 for 30 min at values equivalent to: (1) the aerobic threshold (AeT); (2) between the aerobic and the anaerobic threshold (AeTAnT); (3) the anaerobic threshold (AnT); and (4) between the anaerobic threshold and VO2max (AnTmax). Blood lactate concentration and ventilatory equivalents for O2 and CO2 demonstrated steady state values during the last 20 min of exercise at the AeT, AeAnT and AnT intensities, but increased progressively until fatigue in the AnTmax trial (mean time = 16 min). Serum glycerol levels were significantly higher at 40 min of exercise on the AeAnT and the AnT when compared to AeT, while the respiratory exchange ratios were not significantly different from each other. Thus, metabolic and ventilatory steady state can be maintained during prolonged exercise at intensities up to and including the AnT, and fat continues to be a major fuel source when exercise intensities are increased from the AeT to the AnT in steady state conditions. The blood lactate response to exercise suggests that, for the organism as a whole, anaerobic glycolysis plays a minor role in the energy release system at exercise intensities upt to and including the AnT during steady state conditions.