Mendelian inheritance in man: diagnoses in the UMLS

pre-printBecause they deal with many distinct but rare inheritance diseases, geneticists have difficulty translating from their codes to other biomedical coding schemes. The objective ofthis research was to investigate the potential uses and difficulties of using the UMLS Metathesaurus for genetic diagnoses and to make recommendations to UMLS developers for improvements in UMLS for common genetic disorders. The 110 most common Mendelian Inheritance in Man disorders from the Missouri Genetic Disease Program over the period of one year were translated into MeSH, ICD and SNOMED. The more common diseases are more likely to be mapped than the rarer ones. Diseases with a proven genetic inheritance pattern are more likely to be mapped than those with speculated inheritance patterns. Approximately one third of all diagnoses were not mapped across all three coding schemes in Meta-1. 2. The ICD coding scheme was found to be too broad to be meaningful for genetic diagnosis or epidemiological purposes. MeSH and SNOMED need to be made more specific and complete, and all of the new version of SNOMED needs to be included in the Metathesaurus

Distribution, Abundance, and Age Structure of Red Snapper (Lutjanus campechanus) Caught on Research Longlines in U.S. Gulf of Mexico

Two pilot surveys were conducted in the northern Gulf of Mexico (Gulf) to determine the feasibility of sampling red snapper (Lutjanus campechanus) populations in offshore waters with bottom longline gear. The first pilot survey off Mississippi-Alabama was conducted in May 1999 and yielded a total of seven snapper from 60 stations. The second pilot survey was off Texas in June 2000 and yielded a total of 76 snapper from 44 stations. The catch per unit effort was 0.12 red snapper/100 hook hr [coefficient of variation (CV) = 0.54] in 1999 and 1.73 red snapper/100 hook hr (CV = 0.21) in 2000. Otoliths were removed from all collected red snapper, and ages were assigned with an average percent error of 3.71%. Red snapper from the 1999 survey ranged from 405 to 873 mm total length (TL) (545 mm TL median) and from 3 to 19 yr (median age 5 yr). The red snapper from Texas ranged in size from 380 to 903 mm TL (755 mm TL median) and ranged in age from 3 to 53 yr (median age 11 yr). Based on the results of the pilot surveys, expanded longline surveys targeting red snapper were conducted in 2001 and 2002; these surveys yielded 86 snapper and 75 snapper, respectively. The 2001 snapper ranged from 427 to 950 mm TL (770 mm TL median) and from 3 to 37 yr (median age 12 yr). The 2002 snapper ranged from 409 to 950 mm TL (815 mm TL median) and from 4 to 44 yr (median age 13 yr). Twelve red snapper were captured in the eastern Gulf (east of the Mississippi River), and their ages ranged from 3 to 19 yr (median age 6 yr). The 232 red snapper that were caught in the western Gulf ranged in age from 3 to 53 yr (median age 12 yr). A difference in catch rates by depth was also noted with most red snapper captures occurring in the 55-92 m depth range

Latent profile analysis of accelerometer-measured sleep, physical activity, and sedentary time and differences in health characteristics in adult women.

ObjectivesIndependently, physical activity (PA), sedentary behavior (SB), and sleep are related to the development and progression of chronic diseases. Less is known about how rest-activity behaviors cluster within individuals and how rest-activity behavior profiles relate to health. In this study we aimed to investigate if adult women cluster into profiles based on how they accumulate rest-activity behavior (including accelerometer-measured PA, SB, and sleep), and if participant characteristics and health outcomes differ by profile membership.MethodsA convenience sample of 372 women (mean age 55.38 + 10.16) were recruited from four US cities. Participants wore ActiGraph GT3X+ accelerometers on the hip and wrist for a week. Total daily minutes in moderate-to-vigorous PA (MVPA) and percentage of wear-time spent in SB was estimated from the hip device. Total sleep time (hours/minutes) and sleep efficiency (% of in bed time asleep) were estimated from the wrist device. Latent profile analysis (LPA) was performed to identify clusters of participants based on accumulation of the four rest-activity variables. Adjusted ANOVAs were conducted to explore differences in demographic characteristics and health outcomes across profiles.ResultsRest-activity variables clustered to form five behavior profiles: Moderately Active Poor Sleepers (7%), Highly Actives (9%), Inactives (41%), Moderately Actives (28%), and Actives (15%). The Moderately Active Poor Sleepers (profile 1) had the lowest proportion of whites (35% vs 78-91%, p < .001) and college graduates (28% vs 68-90%, p = .004). Health outcomes did not vary significantly across all rest-activity profiles.ConclusionsIn this sample, women clustered within daily rest-activity behavior profiles. Identifying 24-hour behavior profiles can inform intervention population targets and innovative behavioral goals of multiple health behavior interventions

Parental mastery of continuous subcutaneous insulin infusion skills and glycemic control in youth with type 1 diabetes

OBJECTIVE: The purpose of this study is to determine whether parental knowledge of the continuous subcutaneous insulin infusion (CSII) device affects glycemic control as measured by hemoglobin A1c (A1C) level. SUBJECTS AND METHODS: Parents of children with type 1 diabetes mellitus (T1DM) using CSII completed a 14-item questionnaire. Questions 1-10 were knowledge-based questions that required the parent to extract specific information from their child\u27s CSII device. Questions 11-14 asked parents to provide a self-assessment of their CSII knowledge. RESULTS: Twenty-two parents of youth with T1DM participated in the study. Ten of the youth were in the Low-A1C group (A1C/=8%). Parents of youth in the Low-A1C group scored statistically better on the 10-item performance survey than parents of youth in the High-A1C group. Most of the parents of children in the Low-A1C group responded that they knew their child\u27s insulin pump very well and that their pump knowledge had increased since their child started on the insulin pump. CONCLUSIONS: Our findings reveal that youth with T1DM whose parents are more knowledgeable about pump functions have optimal glycemic control as evidenced by A1C. These findings underscore the importance of ongoing pump training for both pediatric patients and their parents

Pharmacovigilance in India, Uganda and South Africa with reference to WHO’s minimum requirements

Background: Pharmacovigilance (PV) data are crucial for ensuring safety and effectiveness of medicines after drugs have been granted marketing approval. This paper describes the PV systems of India, Uganda and South Africa based on literature and Key Informant (KI) interviews and compares them with the World Health Organization’s (WHO’s) minimum PV requirements for a Functional National PV System. Methods: A documentary analysis of academic literature and policy reports was undertaken to assess the medicines regulatory systems and policies in the three countries. A gap analysis from the document review indicated a need for further research in PV. KI interviews covered topics on PV: structure and practices of the system; current regulatory policy; capacity limitations, staffing, funding and training; availability and reporting of data; and awareness and usage of the systems. Twenty interviews were conducted in India, 8 in Uganda and 11 in South Africa with government officials from the ministries of health, national regulatory authorities, pharmaceutical producers, Non-Governmental Organizations (NGOs), members of professional associations and academia. The findings from the literature and KI interviews were compared with WHO’s minimum requirements. Results: All three countries were confronted with similar barriers: lack of sufficient funding, limited number of trained staff, inadequate training programs, unclear roles and poor coordination of activities. Although KI interviews represented viewpoints of the respondents, the findings confirmed the documentary analysis of the literature. Although South Africa has a legal requirement for PV, we found that the three countries uniformly lacked adequate capacity to monitor medicines and evaluate risks according to the minimum standards of the WHO. Conclusion: A strong PV system is an important part of the overall medicine regulatory system and reflects on the stringency and competence of the regulatory bodies in regulating the market ensuring the safety and effectiveness of medications. National PV systems in the study countries needed strengthening. Greater attention to funding is needed to coordinate and sustain PV activities. Our study highlights a need for developing more systematic approaches to regularly monitoring and evaluating PV policy and practices

Differentiation of primate primordial germ cell-like cells following transplantation into the adult gonadal niche.

A major challenge in stem cell differentiation is the availability of bioassays to prove cell types generated in vitro are equivalent to cells in vivo. In the mouse, differentiation of primordial germ cell-like cells (PGCLCs) from pluripotent cells was validated by transplantation, leading to the generation of spermatogenesis and to the birth of offspring. Here we report the use of xenotransplantation (monkey to mouse) and homologous transplantation (monkey to monkey) to validate our in vitro protocol for differentiating male rhesus (r) macaque PGCLCs (rPGCLCs) from induced pluripotent stem cells (riPSCs). Specifically, transplantation of aggregates containing rPGCLCs into mouse and nonhuman primate testicles overcomes a major bottleneck in rPGCLC differentiation. These findings suggest that immature rPGCLCs once transplanted into an adult gonadal niche commit to differentiate towards late rPGCs that initiate epigenetic reprogramming but do not complete the conversion into ENO2-positive spermatogonia

A Multidomain Adhesion Protein Family Expressed in Plasmodium falciparum Is Essential for Transmission to the Mosquito

The recent sequencing of several apicomplexan genomes has provided the opportunity to characterize novel antigens essential for the parasite life cycle that might lead to the development of new diagnostic and therapeutic markers. Here we have screened the Plasmodium falciparum genome sequence for genes encoding extracellular multidomain putative adhesive proteins. Three of these identified genes, named PfCCp1, PfCCp2, and PfCCp3, have multiple adhesive modules including a common Limulus coagulation factor C domain also found in two additional Plasmodium genes. Orthologues were identified in the Cryptosporidium parvum genome sequence, indicating an evolutionary conserved function. Transcript and protein expression analysis shows sexual stage–specific expression of PfCCp1, PfCCp2, and PfCCp3, and cellular localization studies revealed plasma membrane–associated expression in mature gametocytes. During gametogenesis, PfCCps are released and localize surrounding complexes of newly emerged microgametes and macrogametes. PfCCp expression markedly decreased after formation of zygotes. To begin to address PfCCp function, the PfCCp2 and PfCCp3 gene loci were disrupted by homologous recombination, resulting in parasites capable of forming oocyst sporozoites but blocked in the salivary gland transition. Our results describe members of a conserved apicomplexan protein family expressed in sexual stage Plasmodium parasites that may represent candidates for subunits of a transmission-blocking vaccine

Predictors of Long-term Exercise Maintenance among College Aged Adults: Role of Body Image Anxiety

Background and Purpose: Participation in regular exercise is low among young adults and is contributing to a rapid increase in obesity and chronic health conditions. Enhancing motivation is a key element in exercise initiation and maintenance. The current investigation considers factors relevant to the transtheoretical model (TTM), self-determination theory (SDT), self-efficacy (SE), and body image anxiety (BIA) in relation to college students’ motivation to exercise. Design and Main Outcome Measures: In this cross sectional study, lower division college students (N=614, 64% female, 36% male) completed an online survey of exercise behavior, motivation, SE and BIA. Results: BIA was related to both controlled extrinsic (external and introjected regulations) and autonomous extrinsic (integrated regulation) SDT motivational variables, as well as intrinsic motivation. Exercise maintenance was most strongly associated with integrated regulation, a “selfdetermined” motivational state, and SE. Conclusion: The current study provides support for the central tenet of SDT indicating that intrinsic and extrinsic motivation are not mutually exclusive constructs. Helping individuals with BIA develop a more intrinsic approach to exercise is integral for fostering long-term exercise maintenance. Thus, future research should focus on developing interventions that enhance integrated regulation and SE in order to promote exercise maintenance and reduce associated BIA

Death or survival from invasive pneumococcal disease in Scotland: associations with serogroups and multilocus sequence types

We describe associations between death from invasive pneumococcal disease (IPD) and particular serogroups and sequence types (STs) determined by multilocus sequence typing (MLST) using data from Scotland. All IPD episodes where blood or cerebrospinal fluid (CSF) culture isolates were referred to the Scottish Haemophilus, Legionella, Meningococcal and Pneumococcal Reference Laboratory (SHLMPRL) from January 1992 to February 2007 were matched to death certification records by the General Register Office for Scotland. This represented 5959 patients. The median number of IPD cases in Scotland each year was 292. Deaths, from any cause, within 30 days of pneumococcal culture from blood or CSF were considered to have IPD as a contributing factor. Eight hundred and thirty-three patients died within 30 days of culture of Streptococcus pneumoniae from blood or CSF [13.95%; 95% confidence interval (13.10, 14.80)]. The highest death rates were in patients over the age of 75. Serotyping data exist for all years but MLST data were only available from 2001 onward. The risk ratio of dying from infection due to particular serogroups or STs compared to dying from IPD due to all other serogroups or STs was calculated. Fisher's exact test with Bonferroni adjustment for multiple testing was used. Age adjustment was accomplished using the Cochran-Mantel-Haenszel test and 95% confidence intervals were reported. Serogroups 3, 11 and 16 have increased probability of causing fatal IPD in Scotland while serogroup 1 IPD has a reduced probability of causing death. None of the 20 most common STs were significantly associated with death within 30 days of pneumococcal culture, after age adjustment. We conclude that there is a stronger association between a fatal outcome and pneumococcal capsular serogroup than there is between a fatal outcome and ST