HEALTH DISPARITIES: THE GENETIC CONTRIBUTION IN THE AFRICAN AMERICAN COMMUNITY

poster abstractSince the completion of the Human Genome Project, it has been found that genes and their function play a role in 9 out of 10 of the leading causes of death in the U.S. Some of these causes such as heart disease, cancer, stroke and diabetes are significantly prevalent in the African American community. African Americans often experience the largest differences in health risks when compared to their White counterparts. This research project will examine how mutated genes and their function, contribute to health disparities in the African American community. The population for this research project will only include individuals of African ancestry born in the U.S. A brief survey will be conducted to inquire about participants’ knowledge of genetics and its influence on disease inheritance. The data collected will be interpreted as a representation of average African Americans’ knowledge of genetic influences on disease inheritance. Additionally, data will be obtained from facilities that offer genetic testing services. Specifically, I hope to obtain information on the racial populations who utilize these services, primarily, those with higher occurrences of genetic disorders. Coupled with the survey’s data, I will use the testing centers’ information to determine whether a correlation exists between the following variables: knowledge of genetics, use of genetic testing services and prevalence of inheritable diseases. I expect a strong correlation between afore mentioned variables. My hypothesis is that this correlation will prove undetected gene mutations when inherited, contribute to health disparities in the African American community

Congenital erythropoietic porphyria associated with myelodysplasia presenting in a 72-year-old man: report of a case and review of the literature

Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disease owing to the deficient activity of uroporphyrinogen III synthase, the fourth enzyme in the porphyrin–haem synthetic pathway. Of the porphyrias, it is the most mutilating type, usually presenting early in life. To date, 12 documented cases of adult onset CEP have been reported. We report the second oldest documented patient with late onset CEP with incidental findings of thrombocytopenia and myelodysplasia with bone-marrow sideroblasts. We further discuss several current and future treatment options for this therapeutically challenging disease.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/73760/1/j.1365-2133.2003.05040.x.pd

Skuteczność połączenia ezetymibu/simwastatyny w dawkach 10/40 mg w porównaniu z podwójną dawką statyny u pacjentów hospitalizowanych z powodu ostrego incydentu wieńcowego: badanie INFORCE

Wstęp: Celem pracy było zbadanie skuteczności i bezpiecze&#241;stwa stosowania skojarzonego preparatu ezetymibu/simwastatyny (Eze/Simva) w dawce 10/40 mg w porównaniu z podwójną dawką statyny, które włączano przy wypisie ze szpitala u pacjentów przyjmujących dotychczas statyny, a u których powodem hospitalizacji była diagnostyka epizodu wieńcowego. Metody: Było to otwarte wieloośrodkowe badanie IV fazy, z randomizacją, prowadzone w układzie równoległym z grupą kontrolną, do którego zakwalifikowano 424 pacjentów (w wieku &#8805; 18 lat) hospitalizowanych z powodu ostrego epizodu wieńcowego. Pacjenci przyjmowali wcześniej statyny (przez &#8805; 6 tygodni) w stałej dawce, której wartość można było podwoić zgodnie z zaleceniami producenta preparatu. W momencie wypisu ze szpitala pacjent ów dzielono na grupy pod wzgl&#234;dem dawki/siły działania statyny (duża, średnia, mała) i przydzielano losowo w stosunku 1:1 do grupy, która przyjmowała następnie podwojoną dawkę tego preparatu (n = 211) lub preparat Eze/Simva w dawce 10/40 mg (n = 213) przez 12 tygodni. Pierwszorzędową zmienną określającą skuteczność zastosowanego leczenia było stężenie frakcji cholesterolu o małej gęstości (LDL-C) wyrażone w wartościach bezwzględnych [mmol/l] w momencie zakończenia badania. Wyniki: Średnie wartości stężenia cholesterolu frakcji LDL w punkcie wyjściowym wynosiły 2,48 mmol/l w grupie Eze/Simva i 2,31 mmol/l w grupie leczonej tylko statyną. W momencie zako&#241;czenia badania wartości najmniejszych kwadratów stężenie LDL-C wyniosły odpowiednio 1,74 mmol/l w grupie Eze/Simva i 2,22 mmol/l w grupie leczonej statyną; różnica pomiędzy grupami osiągnęła wartość znamienną statystycznie, rzędu -0,49 mmol/l (p &#8804; 0,001). Przyjmowanie skojarzonego preparatu Eze/Simva powodowało także znamienne zmniejszenie stężenia cholesterolu całkowitego (&#8211;0,49 mmol/l), cholesterolu frakcji lipoprotein innych ni&#191; te o dużej gęstości [(nie-HDL); &#8211;0,53 mmol/l] oraz apolipoproteiny B (&#8211;0,14 mmol/l) w porównaniu z przyjmowaniem podwójnej dawki statyny (p &#163; 0,001 dla wszystkich porównywanych warto&#339;ci). Oba protokoły leczenia miały zbliżony wpływ na stężenia triglicerydów, białka C-reaktywnego i cholesterolu frakcji lipoprotein o dużej gęstości (HDL, high-density protein); porównania pomiędzy grupami przyniosły wartości nieznamienne (p &#8805; 0,160). U istotnie większej liczby pacjentów przyjmujących Eze/Simva stężenie cholesterolu frakcji LDL spadło do poniżej 2,5 mmol/l (< 100 mg/dl; 86% pacjentów leczonych Eze/Simva vs. 72% osób leczonych podwójną dawką statyny), do poniżej 2,0 mmol/l (< 77 mg/dl; 70% vs. 42%) oraz do poniżej 1,8 mmol/l mmol/l (< 70 mg/dl; 60% vs. 13%) w porównaniu z grupą otrzymującą samą statynę (p &#8804; 0,001 dla wszystkich porównywanych wartości). Połączenie preparatów Eze/Simva było ogólnie dobrze tolerowane, a jego profil bezpieczeństwa był zbliżony do profilu samej statyny. Nie stwierdzono różnic pomiędzy grupami pod względem częstości występowania zwyżki aktywności aminotransferaz wątrobowych do wartości równej przynajmniej 3-krotności górnej granicy przedziału warto&#339;ci prawidłowych (ULN) ani zwyżki aktywności kinazy kreatynowej do wartości równej przynajmniej 10-krotności ULN. Wnioski: W populacji pacjentów leczonych wcześniej statyną, których hospitalizowano w celu diagnostyki incydentu wie&#241;cowego, leczenie skojarzonym preparatem Eze/Simva w dawce 10/40 mg przez 12 tygodni powoduje większą normalizację lipemii niż podwojenie dawki przyjmowanej wcze&#339;niej statyny, z zachowaniem zbliżonego profilu bezpieczeństwa

TNOs are Cool: A survey of the trans-Neptunian region. VIII. Combined Herschel PACS and SPIRE observations of nine bright targets at 70–500 μm

International audienceAims. Trans-Neptunian objects (TNOs) are bodies populating the Kuiper belt and they are believed to retain the most pristine and least altered material of the solar system. The Herschel open time key programme entitled “TNOs are Cool: A survey of the trans-Neptunian region” has been awarded 373 h to investigate the albedo, size distribution and thermal properties of TNOs and Centaurs. Here we focus on the brightest targets observed by both the PACS and SPIRE multiband photometers: the dwarf planet Haumea, six TNOs (Huya, Orcus, Quaoar, Salacia, 2002 UX25, and 2002 TC302), and two Centaurs (Chiron and Chariklo).Methods. Flux densities are derived from PACS and SPIRE instruments using optimised data reduction methods. The spectral energy distribution obtained with the Herschel PACS and SPIRE instruments over 6 bands (centred at 70, 100, 160, 250, 350, and 500 μm), with Spitzer-MIPS at 23.7 and 71.4 μm, and with WISE at 11.6 and 22.1 μm in the case of 10199 Chariklo, has been modelled with the NEATM thermal model in order to derive the albedo, diameter, and beaming factor. For the Centaurs Chiron and Chariklo and for the 1000 km sized Orcus and Quaoar, a thermophysical model was also run to better constrain their thermal properties.Results. We derive the size, albedo, and thermal properties, including thermal inertia and surface emissivity, for the 9 TNOs and Centaurs. Several targets show a significant decrease in their spectral emissivity longwards of ~300 μm and especially at 500 μm. Using our size estimations and the mass values available in the literature, we also derive the bulk densities for the binaries Quaoar/Weywot (2.18-0.36+0.43 g/cm3), Orcus/Vanth (1.53-0.13+0.15 g/cm3), and Salacia/Actea (1.29-0.23+0.29 g/cm3). Quaoar’s density is similar to that of the other dwarf planets Pluto and Haumea, and its value implies high contents of refractory materials mixed with ices

Sustainability in a changing world: integrating human health and wellbeing, urbanisation, and ecosystem services

There is an urgent need to address interlinked sustainability issues in a world challenged by inequality, finite resources and unprecedented changes across Earth’s systems. As Future Earth Fellows, based on our collective expertise in a diverse range of sustainability issues, here we identify a specific need to recognise and respond appropriately to the nexus between human health and wellbeing, urbanisation, and ecosystem services (the ‘WUE nexus’). This nexus is a priority area for research, policy and practice. In particular, it provides a useful pathway to meet the challenges of successful implementation of the Sustainable Development Goals (SDGs). In this brief, we present the following policy recommendations:1. By emphasising urban-rural linkages, foster an integrated approach to ensure food security, food safety, and health promotion;2. Secure resilient livelihoods for all, in particular for vulnerable groups; and3. Integrate co-production of knowledge in science for decision-making, including the co-design of implementation frameworks, and the adoption of a nexus approach.<br/

Comparing Brane Inflation to WMAP

We compare the simplest realistic brane inflationary model to recent cosmological data, including WMAP 3-year cosmic microwave background (CMB) results, Sloan Digital Sky Survey luminous red galaxies (SDSS LRG) power spectrum data and Supernovae Legacy Survey (SNLS) Type 1a supernovae distance measures. Here, the inflaton is simply the position of a $D3$-brane which is moving towards a $\bar{D}3$-brane sitting at the bottom of a throat (a warped, deformed conifold) in the flux compactified bulk in Type IIB string theory. The analysis includes both the usual slow-roll scenario and the Dirac-Born-Infeld scenario of slow but relativistic rolling. Requiring that the throat is inside the bulk greatly restricts the allowed parameter space. We discuss possible scenarios in which large tensor mode and/or non-Gaussianity may emerge. Here, the properties of a large tensor mode deviate from that in the usual slow-roll scenario, providing a possible stringy signature. Overall, within the brane inflationary scenario, the cosmological data is providing information about the properties of the compactification of the extra dimensions.Comment: 45 pages 11 figure

A Biased Review of Sociophysics

Various aspects of recent sociophysics research are shortly reviewed: Schelling model as an example for lack of interdisciplinary cooperation, opinion dynamics, combat, and citation statistics as an example for strong interdisciplinarity.Comment: 16 pages for J. Stat. Phys. including 2 figures and numerous reference

Mapping gene associations in human mitochondria using clinical disease phenotypes

Nuclear genes encode most mitochondrial proteins, and their mutations cause diverse and debilitating clinical disorders. To date, 1,200 of these mitochondrial genes have been recorded, while no standardized catalog exists of the associated clinical phenotypes. Such a catalog would be useful to develop methods to analyze human phenotypic data, to determine genotype-phenotype relations among many genes and diseases, and to support the clinical diagnosis of mitochondrial disorders. Here we establish a clinical phenotype catalog of 174 mitochondrial disease genes and study associations of diseases and genes. Phenotypic features such as clinical signs and symptoms were manually annotated from full-text medical articles and classified based on the hierarchical MeSH ontology. This classification of phenotypic features of each gene allowed for the comparison of diseases between different genes. In turn, we were then able to measure the phenotypic associations of disease genes for which we calculated a quantitative value that is based on their shared phenotypic features. The results showed that genes sharing more similar phenotypes have a stronger tendency for functional interactions, proving the usefulness of phenotype similarity values in disease gene network analysis. We then constructed a functional network of mitochondrial genes and discovered a higher connectivity for non-disease than for disease genes, and a tendency of disease genes to interact with each other. Utilizing these differences, we propose 168 candidate genes that resemble the characteristic interaction patterns of mitochondrial disease genes. Through their network associations, the candidates are further prioritized for the study of specific disorders such as optic neuropathies and Parkinson disease. Most mitochondrial disease phenotypes involve several clinical categories including neurologic, metabolic, and gastrointestinal disorders, which might indicate the effects of gene defects within the mitochondrial system. The accompanying knowledgebase (http://www.mitophenome.org/) supports the study of clinical diseases and associated genes

Techniques for preparing hydrogel membrane capsules

Techniques for preparing four kinds of hydrogel membrane capsules are described. In the present process the material being encapsulated remains in its original environment in an aqueous suspension. Also, capsule characteristics such as size, membrane thickness, pore-size and surface charge can be controlled over a wide range.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/42487/1/10542_2005_Article_BF01875541.pd