Iowa African-American Journal, Fall 2004, Vol. 10, no. 2

Newsletter for the Iowa Commission on the Status of African-Americans

Iowa African-American Journal, Spring 2004, Vol. 9, no. 1

Newsletter for the Iowa Commission on the Status of African-Americans

Iowa African-American Journal, Winter 2004, Vol. 10, no. 2

Newsletter for the Iowa Commission on the Status of African-Americans. Vol. 10, no. 2 also used for Fall 2004.

Y-chromosome diversity in native mexicans reveals continental transition of genetic structure in the Americas

The genetic characterization of Native Mexicans is important to understand multiethnic based features influencing the medical genetics of present Mexican populations, as well as to the reconstruct the peopling of the Americas. We describe the Y-chromosome genetic diversity of 197 Native Mexicans from 11 populations and 1,044 individuals from 44 Native American populations after combining with publicly available data. We found extensive heterogeneity among Native Mexican populations and ample segregation of Q-M242* (46%) and Q-M3 (54%) haplogroups within Mexico. The northernmost sampled populations falling outside Mesoamerica (Pima and Tarahumara) showed a clear differentiation with respect to the other populations, which is in agreement with previous results from mtDNA lineages. However, our results point toward a complex genetic makeup of Native Mexicans whose maternal and paternal lineages reveal different narratives of their population history, with sex-biased continental contributions and different admixture proportions. At a continental scale, we found that Arctic populations and the northernmost groups from North America cluster together, but we did not find a clear differentiation within Mesoamerica and the rest of the continent, which coupled with the fact that the majority of individuals from Central and South American samples are restricted to the Q-M3 branch, supports the notion that most Native Americans from Mesoamerica southwards are descendants from a single wave of migration. This observation is compatible with the idea that present day Mexico might have constituted an area of transition in the diversification of paternal lineages during the colonization of the Americas.

Healthy Iowans 2010 Mid-Course Revision, July 2005

In the past century, public health has been credited with adding 25 years to life expectancy by contributing to the decline in illness and injury. Progress has been made, for example, in smoking reduction, infectious disease, and motor vehicle and workplace injuries. Besides its focus on traditional concerns such as clean water and safe food, public health is adapting to meet emerging health problems. Particular troublesome are health threats to youth: teenage pregnancies, violence, substance abuse, sexually transmitted diseases, and other conditions associated with high-risk behaviors. These threats add to burgeoning health care costs. A conservative estimate of $69 billion in medical spending could be averted through the impact of public health strategies aimed at heart disease, stroke, fatal and nonfatal occupational injuries, motor vehicle-related injuries, low birth weight, and violence. These strategies require the collaboration of many groups in the public and private sectors. Collaboration is the bedrock of public health and Healthy Iowans planning. At the core of Healthy Iowans 2000 and its successor, Healthy Iowans 2010, is the idea that all Iowans benefit when stakeholders decide on disease prevention and health promotion strategies and agree to work together on them. These strategies can improve the quality of life and hold down health care costs. The payoff for health promotion and disease prevention is not immediate, but it has long-lasting benefits. The Iowa plan is a companion to the national plan, Healthy People 2010. An initiative to improve the health of Americans, the national plan is the driving force for federal resource allocation for disease prevention and health promotion. The state plan is used in the same way. Both plans have received broad support from Republican and Democratic administrations. Community planners are using the state plan to help assess health needs and craft health improvement plans. Healthy Iowans 2010 was written at an unusual point in history – a new decade, a new century, a new millennium. The introduction was optimistic. “The 21st century,” it says, “promises to add life as well as years through improved health habits coupled with medical advances. Scientists have suggested that if these changes occur, the definition of adulthood will also change. An extraordinary number of people will live fuller, more active lives beyond that expected in the late 20th century.” At the same time, the country has spawned a new generation of health hazards. According to Dr. William Dietz of the Centers for Disease Control and Prevention (CDC), it has replaced “the diseases of deficiency with diseases of excess” (Newsweek, August 2, 1999). New threats, such as childhood overweight, can reverse progress made in the last century. This demands concerted action.

CUBN is a gene locus for albuminuria.

Identification of genetic risk factors for albuminuria may alter strategies for early prevention of CKD progression, particularly among patients with diabetes. Little is known about the influence of common genetic variants on albuminuria in both general and diabetic populations. We performed a meta-analysis of data from 63,153 individuals of European ancestry with genotype information from genome-wide association studies (CKDGen Consortium) and from a large candidate gene study (CARe Consortium) to identify susceptibility loci for the quantitative trait urinary albumin-to-creatinine ratio (UACR) and the clinical diagnosis microalbuminuria. We identified an association between a missense variant (I2984V) in the CUBN gene, which encodes cubilin, and both UACR (P = 1.1 × 10(-11)) and microalbuminuria (P = 0.001). We observed similar associations among 6981 African Americans in the CARe Consortium. The associations between this variant and both UACR and microalbuminuria were significant in individuals of European ancestry regardless of diabetes status. Finally, this variant associated with a 41% increased risk for the development of persistent microalbuminuria during 20 years of follow-up among 1304 participants with type 1 diabetes in the prospective DCCT/EDIC Study. In summary, we identified a missense CUBN variant that associates with levels of albuminuria in both the general population and in individuals with diabetes.

Disability Rights Guide for Iowans, August 2004

Individuals with disabilities have civil rights protection similar to that provided to individuals on the basis of race, sex, national origin, and religion. The advent of the Americans with Disabilities Act has improved these protections and brought this issue into the forefront. This book is not intended to be a legal translation of state or federal laws. Its purpose is to assist people with disabilities in understanding their rights. Please consult the Code of Iowa, the appropriate federal laws or an attorney if you need a legal interpretation.

Accessible Parking Spaces Guidelines, 2001

The Americans with Disabilities Act Accessibility Guidelines (ADAAG) and Chapter 321L of the Iowa Code.

Alpine tectonic evolution of a Jurassic subduction-accretionary complex: Deformation, kinematics and 40Ar/39Ar age constraints on the Mesozoic low-grade schists of the Circum-Rhodope Belt in the eastern Rhodope-Thrace region, Bulgaria-Greece

Deformation of the Circum-Rhodope Belt Mesozoic (Middle Triassic to earliest Lower Cretaceous) low-grade schists underneath an arc-related ophiolitic magmatic suite and associated sedimentary successions in the eastern Rhodope-Thrace region occurred as a two-episode tectonic process: (i) Late Jurassic deformation of arc to margin units resulting from the eastern Rhodope-Evros arc-Rhodope terrane continental margin collision and accretion to that margin, and (ii) Middle Eocene deformation related to the Tertiary crustal extension and final collision resulting in the closure of the Vardar ocean south of the Rhodope terrane. The first deformational event D-1 is expressed by Late Jurassic NW-N vergent fold generations and the main and subsidiary planar-linear structures. Although overprinting, these structural elements depict uniform bulk north-directed thrust kinematics and are geometrically compatible with the increments of progressive deformation that develops in same greenschist-facies metamorphic grade. It followed the Early-Middle Jurassic magmatic evolution of the eastern Rhodope-Evros arc established on the upper plate of the southward subducting Maliac-Meliata oceanic lithosphere that established the Vardar Ocean in a supra-subduction back-arc setting. This first event resulted in the thrust-related tectonic emplacement of the Mesozoic schists in a supra-crustal level onto the Rhodope continental margin. This Late Jurassic-Early Cretaceous tectonic event related to N-vergent Balkan orogeny is well-constrained by geochronological data and traced at a regional-scale within distinct units of the Carpatho-Balkan Belt. Following subduction reversal towards the north whereby the Vardar Ocean was subducted beneath the Rhodope margin by latest Cretaceous times, the low-grade schists aquired a new position in the upper plate, and hence, the Mesozoic schists are lacking the Cretaceous S-directed tectono-metamorphic episode whose effects are widespread in the underlying high-grade basement. The subduction of the remnant Vardar Ocean located behind the colliding arc since the middle Cretaceous was responsible for its ultimate closure, Early Tertiary collision with the Pelagonian block and extension in the region caused the extensional collapse related to the second deformational event D-2. This extensional episode was experienced passively by the Mesozoic schists located in the hanging wall of the extensional detachments in Eocene times. It resulted in NE-SW oriented open folds representing corrugation antiforms of the extensional detachment surfaces, brittle faulting and burial history beneath thick Eocene sediments as indicated by 42.1-39.7 Ma Ar-40/Ar-39 mica plateau ages obtained in the study. The results provide structural constraints for the involvement components of Jurassic paleo-subduction zone in a Late Jurassic arc-continental margin collisional history that contributed to accretion-related crustal growth of the Rhodope terrane. (C) 2011 Elsevier Ltd. All rights reserved.

FRAX® International Task Force of the 2010 Joint International Society for Clinical Densitometry & International Osteoporosis Foundation Position Development Conference.

Osteoporosis is a serious worldwide epidemic. FRAX® is a web-based tool developed by the Sheffield WHO Collaborating Center team, that integrates clinical risk factors and femoral neck BMD and calculates the 10 year fracture probability in order to help health care professionals identify patients who need treatment. However, only 31 countries have a FRAX® calculator. In the absence of a FRAX® model for a particular country, it has been suggested to use a surrogate country for which the epidemiology of osteoporosis most closely approximates the index country. More specific recommendations for clinicians in these countries are not available. In North America, concerns have also been raised regarding the assumptions used to construct the US ethnic specific FRAX® calculators with respect to the correction factors applied to derive fracture probabilities in Blacks, Asians and Hispanics in comparison to Whites. In addition, questions were raised about calculating fracture risk in other ethnic groups e.g., Native Americans and First Canadians. The International Society for Clinical Densitometry (ISCD) in conjunction with the International Osteoporosis Foundation (IOF) assembled an international panel of experts that ultimately developed joint Official Positions of the ISCD and IOF advising clinicians regarding FRAX® usage. As part of the process, the charge of the FRAX® International Task Force was to review and synthesize data regarding geographic and race/ethnic variability in hip fractures, non-hip osteoporotic fractures, and make recommendations about the use of FRAX® in ethnic groups and countries without a FRAX® calculator. This synthesis was presented to the expert panel and constitutes the data on which the subsequent Official Positions are predicated. A summary of the International Task Force composition and charge is presented here.

El batalló dels esperitats. Barry Hannah

Aquest treball presenta una traducció al català d’un conte de l’obra Bats out of hell de Barry Hannah, un escriptor nascut al Sud dels Estats Units. L’interès d’aquest treball és la inexistència de traduccions de l’obra de Hannah al català i la denúncia que fa l’autor dels estereotips tan marcats de la societat de la seva regió natal.

Actituds lingüístiques i identitats en construcció de joves immigrants xinesos i llatinoamericans a l’escola catalana

Aquest projecte ha investigat el procés de construcció de la identitat lingüística i cultural dels joves llatinoamericans i xinesos a partir de l’anàlisi de les seves actituds lingüístiques i percepcions respecte a la identitat cultural i els usos lingüístics propis. Hem escollit joves d’ensenyament secundari procedents de dos contextos diferenciats: (a) llatinoamericans que entren en el sistema educatiu amb ple domini d’una de les llengües oficials, el castellà, i (b) xinesos que inicien estudis als centres sense dominar cap llengua romànica. La recerca s’ha dut a terme amb una perspectiva etnogràfica en dos centres escolars on conviuen joves d’orígens lingüístics i culturals diferents. Gràcies als vincles creats amb docents dels centres, hem pogut posar en pràctica una metodologia d’observació participant en diversos espais escolars. També hem realitzat entrevistes a joves llatinoamericans i xinesos durant les quals hem investigat pràctiques lingüístiques i experiències quotidianes al centre relacionades amb l’aprenentatge de llengües, així com actituds vers les llengües oficials i les llengües de l’entorn familiar i vers la pluralitat d’identitats a Catalunya. Tot i que en un inici teníem la intenció d’entrevistar joves autòctons, finalment ens hem concentrat només en joves immigrants amb l’objectiu de maximitzar els recursos humans i pressupostaris. Mitjançant observacions i entrevistes amb docents, hem esbrinat com interpreten i aborden els reptes de la diversitat. En el cas d’un centre, també hem entrevistat la mediadora social que facilita les relacions entre els progenitors i el centre. Mitjançant entrevistes amb progenitors dels joves, hem investigat usos i actituds lingüístiques d’ells i dels seus fills, així com actituds al nucli familiar vers la pluralitat cultural i identitària a Catalunya. Les entrevistes han estat transcrites, traduïdes i analitzades en relació a les observacions de camp, tot tenint en compte estudis i marcs teòrics previs.

Fatores associados com a qualidade de vida de homens idosos

Inquérito domiciliário, transversal e analítico que objetivou descrever as características sociodemográficas, de saúde e a qualidade de vida de homens idosos e verificar os fatores socioeconômicos e de saúde associados à qualidade de vida. Participaram 804 homens idosos. Os dados foram coletados pelos instrumentos: Older Americans Resources and Services(OARS), World Health Organization Quality of Life - Bref (WHOQOL-BREF) e Health Organization Quality of Life Assessment for Older Adults(WHOQOL-OLD). Foram realizados análise descritiva, teste t-Student, correlação de Pearson e regressão linear múltipla (p <0,05). Predominaram idosos com 60├ 70 anos, casados, 4├ 8 anos de estudo e renda de um salário mínimo. Os menores escores de qualidade de vida foram no domínio físico e na faceta autonomia e estiveram associados a ausência de companheira e de escolaridade, baixa renda, maior número de morbidades e incapacidade funcional. A incapacidade funcional foi o que mais influenciou a qualidade de vida, excetuando-se o domínio físico e a faceta intimidade.

In vivo analysis of efavirenz metabolism in individuals with impaired CYP2A6 function.

INTRODUCTION: The antiretroviral drug efavirenz (EFV) is extensively metabolized into three primary metabolites: 8-hydroxy-EFV, 7-hydroxy-EFV and N-glucuronide-EFV. There is a wide interindividual variability in EFV plasma exposure, explained to a great extent by cytochrome P450 2B6 (CYP2B6), the main isoenzyme responsible for EFV metabolism and involved in the major metabolic pathway (8-hydroxylation) and to a lesser extent in 7-hydroxylation. When CYP2B6 function is impaired, the relevance of CYP2A6, the main isoenzyme responsible for 7-hydroxylation may increase. We hypothesize that genetic variability in this gene may contribute to the particularly high, unexplained variability in EFV exposure in individuals with limited CYP2B6 function. METHODS: This study characterized CYP2A6 variation (14 alleles) in individuals (N=169) previously characterized for functional variants in CYP2B6 (18 alleles). Plasma concentrations of EFV and its primary metabolites (8-hydroxy-EFV, 7-hydroxy-EFV and N-glucuronide-EFV) were measured in different genetic backgrounds in vivo. RESULTS: The accessory metabolic pathway CYP2A6 has a critical role in limiting drug accumulation in individuals characterized as CYP2B6 slow metabolizers. CONCLUSION: Dual CYP2B6 and CYP2A6 slow metabolism occurs at significant frequency in various human populations, leading to extremely high EFV exposure.

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.

We performed whole genome sequencing in 16 unrelated patients with autosomal recessive retinitis pigmentosa (ARRP), a disease characterized by progressive retinal degeneration and caused by mutations in over 50 genes, in search of pathogenic DNA variants. Eight patients were from North America, whereas eight were Japanese, a population for which ARRP seems to have different genetic drivers. Using a specific workflow, we assessed both the coding and noncoding regions of the human genome, including the evaluation of highly polymorphic SNPs, structural and copy number variations, as well as 69 control genomes sequenced by the same procedures. We detected homozygous or compound heterozygous mutations in 7 genes associated with ARRP (USH2A, RDH12, CNGB1, EYS, PDE6B, DFNB31, and CERKL) in eight patients, three Japanese and five Americans. Fourteen of the 16 mutant alleles identified were previously unknown. Among these, there was a 2.3-kb deletion in USH2A and an inverted duplication of ∼446 kb in EYS, which would have likely escaped conventional screening techniques or exome sequencing. Moreover, in another Japanese patient, we identified a homozygous frameshift (p.L206fs), absent in more than 2,500 chromosomes from ethnically matched controls, in the ciliary gene NEK2, encoding a serine/threonine-protein kinase. Inactivation of this gene in zebrafish induced retinal photoreceptor defects that were rescued by human NEK2 mRNA. In addition to identifying a previously undescribed ARRP gene, our study highlights the importance of rare structural DNA variations in Mendelian diseases and advocates the need for screening approaches that transcend the analysis of the coding sequences of the human genome.