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Brief report: A Pilot Study of a Web-based Resource for Families of Children with Cancer

Ewing, Linda J.; Long, Kristin; Rotondi, Armando; Howe, Chelsea; Bill, Lauren; Marsland, Anna L.
Fonte: Oxford University Press Publicador: Oxford University Press
Tipo: Artigo de Revista Científica
EN
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Objective To develop a Web-based resource for families of children newly diagnosed with cancer and examine the viability of this modality of providing support. Methods Twenty-one children (8–17 years) newly diagnosed with cancer and their families were enrolled. Quantitative data on Web site utilization and frequency of accessing specific sections and qualitative data on participant satisfaction are reported. Results Twenty-one families comprising 51 participants (children with cancer, parents, and siblings) had access to the Web site. Utilization was lower than anticipated, with members of only nine families accessing the site. The majority of these hits were on peer discussion groups. Conclusion Further research is warranted to examine whether the Internet is a viable method of delivering support to families affected by childhood cancer. The current pattern of results suggests that the timing of its introduction and the method used to train families may affect utilization.

Identification of modifier genes for cutaneous malignant melanoma in melanoma-prone families with and without CDKN2A mutations

Yang, Xiaohong Rose; Pfeiffer, Ruth M.; Wheeler, William; Yeager, Meredith; Chanock, Stephen; Tucker, Margaret A.; Goldstein, Alisa M.
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em 15/12/2009 EN
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CDKN2A is a major susceptibility gene for cutaneous malignant melanoma (CMM) but the variable penetrance and clinical manifestations among mutation carriers suggest the existence of modifier factors. The goal of this study was to identify modifier genes for CMM in CMM-prone families with or without CDKN2A mutations. We genotyped 537 individuals (107 CMM) from 28 families (19 CDKN2A+, 9 CDKN2A−) for 1536 SNPs in 152 genes involved in DNA repair, apoptosis, and immune response pathways. We used conditional logistic regression to account for family ascertainment and differences in disease prevalence among families. Pathway- and gene-based permutation analyses were used to assess the risk of CMM associated with genes in the five pathways (DNA repair, apoptosis, TNF/NFκB, TH1:TH2, and other immune regulation). Our analyses identified some candidate genes such as FAS, BCL7A, CASP14, TRAF6, WRN, IL9, IL10RB, TNFSF8, TNFRSF9, and JAK3 that were associated with CMM risk (P<0.01, gene-based test). After correction for multiple comparisons, IL9 remained significant (Bonferroni P<0.05). The effects of some genes were stronger in CDKN2A-positive families (BCL7A and IL9), while some were stronger in CDKN2A-negative families (BCL2L1). Our findings support the hypothesis that common genetic polymorphisms in DNA repair...

Analysis of Families with Lynch Syndrome Complicated by Advanced Serrated Neoplasia: The Importance of Pathology Review and Pedigree Analysis

Walsh, Michael D; Buchanan, Daniel D; Walters, Rhiannon; Roberts, Aedan; Arnold, Sven; McKeone, Diane; Clendenning, Mark; Ruszkiewicz, Andrew R; Jenkins, Mark A; Hopper, John L; Goldblatt, Jack; George, Jillian; Suthers, Graeme K; Phillips, Kerry; Young,
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
EN
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The identification of Lynch syndrome has been greatly assisted by the advent of tumour immunohistochemistry (IHC) for mismatch repair (MMR) proteins, and by the recognition of the role of acquired somatic BRAF mutation in sporadic MMR-deficient colorectal cancer (CRC). However, somatic BRAF mutation may also be present in the tumours in families with a predisposition to develop serrated polyps in the colorectum. In a subgroup of affected members in these families, CRCs emerge which demonstrate clear evidence of MMR deficiency with absent MLH1 staining and high-level microsatellite instability (MSI). This may result in these families being erroneously classified as Lynch syndrome or, conversely, an individual is considered “sporadic” due to the presence of a somatic BRAF mutation in a tumour. In this report, we describe two Lynch syndrome families who demonstrated several such inconsistencies. In one family, IHC deficiency of both MSH2 and MLH1 was demonstrated in tumours from different affected family members, presenting a confusing diagnostic picture. In the second family, MLH1 loss was observed in the lesions of both MLH1 mutation carriers and those who showed normal MLH1 germline sequence. Both families had Lynch syndrome complicated by an independently segregating serrated neoplasia phenotype...

Inference and Characterization of Horizontally Transferred Gene Families Using Stochastic Mapping

Cohen, Ofir; Pupko, Tal
Fonte: Oxford University Press Publicador: Oxford University Press
Tipo: Artigo de Revista Científica
EN
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Macrogenomic events, in which genes are gained and lost, play a pivotal evolutionary role in microbial evolution. Nevertheless, probabilistic-evolutionary models describing such events and methods for their robust inference are considerably less developed than existing methodologies for analyzing site-specific sequence evolution. Here, we present a novel method for the inference of gains and losses of gene families. First, we develop probabilistic-evolutionary models describing the dynamics of gene-family content, which are more biologically realistic than previously suggested models. In our likelihood-based models, gains and losses are represented by transitions between presence and absence, given an underlying phylogeny. We employ a mixture-model approach in which we allow both the gain rate and the loss rate to vary among gene families. Second, we use these models together with the analytic implementation of stochastic mapping to infer branch-specific events. Our novel methodology allows us to infer and quantify horizontal gene transfer (HGT) events. This enables us to rank various gene families and lineages according to their propensity to undergo gains and losses. Applying our methodology to 4,873 gene families shows that: 1) the novel mixture models describe the observed variability in gene-family content among microbes significantly better than previous models; 2) The stochastic mapping approach enables accurate inference of gain and loss events based on simulations; 3) At least 34% of the gene families analyzed are inferred to have experienced HGT at least once during their evolution; and 4) Gene families that were inferred to experience HGT are both enriched and depleted with respect to specific functional categories.

Low penetrance of Leber’s hereditary optic neuropathy in ten Han Chinese families carrying the ND6 T11484C mutation

Qu, Jia; Zhou, Xiangtian; Zhao, Fuxin; Liu, Xiaoling; Zhang, Minglian; Sun, Yan-Hong; Liang, Min; Yuan, Meixia; Liu, Qi; Tong, Yi; Wei, Qi-Ping; Yang, Li; Guan, Min-Xin
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
EN
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We report there the clinical, genetic and molecular characterization of 10 Han Chinese families with Leber’s hereditary optic neuropathy. Clinical evaluation revealed that ten families exhibited extremely low penetrance of visual impairment, with the average of 10%. In particular, ten (8 males/2 females) of 114 matrilineal relatives in these families exhibited the variable severity and age-at-onset in visual dysfunction. The average age-of-onset of vision loss was 19 years old. Molecular analysis of mitochondrial DNA (mtDNA) identified the homoplasmic ND6 T14484C mutation and distinct sets of variants, belonging to the Asian haplogroups B5b, D4, D4g1b, G3a2, R11, R11a and Z3, respectively. However, there was the absence of secondary LHON-associated mtDNA mutations in these ten Chinese families: The low penetrance of vision loss in these Chinese pedigrees strongly indicated that the T14484C mutation was itself insufficient to produce a clinical phenotype. The absence of secondary LHON mtDNA mutations suggest that these mtDNA haplogroup-specific variants may not play an important role in the phenotypic expression of the T14484C mutation in those Chinese families with low penentrace of vision loss. However, nuclear modifier genes and environmental factors appear to be modifier factors for the phenotypic manifestation of the T14484C mutation in these Chinese families.

Founder mutations in the lipase H (LIPH) gene in families with autosomal recessive woolly hair/hypotrichosis

Shimomura, Yutaka; Wajid, Muhammad; Zlotogorski, Abraham; Lee, Young Jin; Rice, Robert H.; Christiano, Angela M.
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
EN
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Autosomal recessive woolly hair (ARWH)/hypotrichosis is a hereditary hair disorder which is characterized by tightly curled hair, and is occasionally associated with sparse hair. ARWH can be caused by mutations in the P2RY5 or lipase H (LIPH) gene. Disruption of both genes results in phenotypes with features of both WH and hypotrichosis. In this study, we identified two Guyanese families with ARWH. Both families are of recent Indian descent. Mutation analysis resulted in the identification of mutations in the LIPH gene in both families. Affected individuals in the first family carry compound heterozygous mutations Ex7_8del and 1303_1309dupGAAAACG in the LIPH gene, and those in the second family have a homozygous mutation 659_660delTA in LIPH. The mutations Ex7_8del and 659_660delTA were previously identified in several Pakistani families with ARWH. Haplotype analysis using microsatellite markers close to the LIPH gene defined a founder haplotype shared in families from Pakistan and Guyana. Proteomic analysis of hair shaft samples from one of the families revealed no substantial changes among the proteins identified, indicating that the syndrome does not involve global alterations in protein expression. Our results further suggest a crucial role of lipase H in hair growth.

Numbers of genes in the NBS and RLK families vary by more than four-fold within a plant species and are regulated by multiple factors

Zhang, Meiping; Wu, Yen-Hsuan; Lee, Mi-Kyung; Liu, Yun-Hua; Rong, Ying; Santos, Teofila S.; Wu, Chengcang; Xie, Fangming; Nelson, Randall L.; Zhang, Hong-Bin
Fonte: Oxford University Press Publicador: Oxford University Press
Tipo: Artigo de Revista Científica
EN
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Many genes exist in the form of families; however, little is known about their size variation, evolution and biology. Here, we present the size variation and evolution of the nucleotide-binding site (NBS)-encoding gene family and receptor-like kinase (RLK) gene family in Oryza, Glycine and Gossypium. The sizes of both families vary by numeral fold, not only among species, surprisingly, also within a species. The size variations of the gene families are shown to correlate with each other, indicating their interactions, and driven by natural selection, artificial selection and genome size variation, but likely not by polyploidization. The numbers of genes in the families in a polyploid species are similar to those of one of its diploid donors, suggesting that polyploidization plays little roles in the expansion of the gene families and that organisms tend not to maintain their ‘surplus’ genes in the course of evolution. Furthermore, it is found that the size variations of both gene families are associated with organisms’ phylogeny, suggesting their roles in speciation and evolution. Since both selection and speciation act on organism’s morphological, physiological and biological variation, our results indicate that the variation of gene family size provides a source of genetic variation and evolution.

Housing Circumstances are Associated with Household Food Access among Low-Income Urban Families

Kirkpatrick, Sharon I.; Tarasuk, Valerie
Fonte: Springer US Publicador: Springer US
Tipo: Artigo de Revista Científica
EN
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Household food insecurity is a pervasive problem in North America with serious health consequences. While affordable housing has been cited as a potential policy approach to improve food insecurity, the relationship between conventional notions of housing affordability and household food security is not well understood. Furthermore, the influence of housing subsidies, a key policy intervention aimed at improving housing affordability in Western countries, on food insecurity is unclear. We undertook a cross-sectional survey of 473 families in market rental (n = 222) and subsidized (n = 251) housing in high-poverty urban neighborhoods to examine the influence of housing circumstances on household food security. Food insecurity, evident among two thirds of families, was inversely associated with income and after-shelter income. Food insecurity prevalence did not differ between families in market and subsidized housing, but families in subsidized housing had lower odds of food insecurity than those on a waiting list for such housing. Market families with housing costs that consumed more than 30% of their income had increased odds of food insecurity. Rent arrears were also positively associated with food insecurity. Compromises in housing quality were evident...

SINGLE MOTHER FAMILIES AND INDUSTRIAL POLLUTION IN METROPOLITAN AMERICA

Downey, Liam
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em //2005 EN
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Environmental inequality researchers have studied the distribution of social groups around a variety of environmental hazards. However, researchers have focused their attention primarily on race and class-based environmental inequality, largely ignoring the question of whether other subordinate groups—children, the elderly, women, welfare recipients, single mother families—are disproportionately burdened by environmental hazards. I address this gap in the literature by asking whether single mother families are overrepresented in environmentally hazardous neighborhoods, whether the percentage of single mother families in a neighborhood is a better predictor than a neighborhood’s racial and income characteristics of environmental hazard presence levels, and whether the representation of single mother families in environmentally hazardous neighborhoods is similar to that of single father families and married parent families.

Mechanisms of Risk and Resilience in Military Families: Theoretical and Empirical Basis of a Family-Focused Resilience Enhancement Program

Saltzman, William R.; Lester, Patricia; Beardslee, William R.; Layne, Christopher M.; Woodward, Kirsten; Nash, William P.
Fonte: Springer US Publicador: Springer US
Tipo: Artigo de Revista Científica
EN
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Recent studies have confirmed that repeated wartime deployment of a parent exacts a toll on military children and families and that the quality and functionality of familial relations is linked to force preservation and readiness. As a result, family-centered care has increasingly become a priority across the military health system. FOCUS (Families OverComing Under Stress), a family-centered, resilience-enhancing program developed by a team at UCLA and Harvard Schools of Medicine, is a primary initiative in this movement. In a large-scale implementation project initiated by the Bureau of Navy Medicine, FOCUS has been delivered to thousands of Navy, Marine, Navy Special Warfare, Army, and Air Force families since 2008. This article describes the theoretical and empirical foundation and rationale for FOCUS, which is rooted in a broad conception of family resilience. We review the literature on family resilience, noting that an important next step in building a clinically useful theory of family resilience is to move beyond developing broad “shopping lists” of risk indicators by proposing specific mechanisms of risk and resilience. Based on the literature, we propose five primary risk mechanisms for military families and common negative “chain reaction” pathways through which they undermine the resilience of families contending with wartime deployments and parental injury. In addition...

Key Working for Families with Young Disabled Children

Carter, Bernie; Thomas, Megan
Fonte: Hindawi Publishing Corporation Publicador: Hindawi Publishing Corporation
Tipo: Artigo de Revista Científica
EN
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For families with a disabled child, the usual challenges of family life can be further complicated by the need to access a wide range of services provided by a plethora of professionals and agencies. Key working aims to support children and their families in navigating these complexities ensuring easy access to relevant, high quality, and coordinated care. The aim of this paper is to explore the key worker role in relation to “being a key worker” and “having a key worker”. The data within this paper draw on a larger evaluation study of the Blackpool Early Support Pilot Programme. The qualitative study used an appreciative and narrative approach and utilised mixed methods (interviews, surveys and a nominal group workshop). Data were collected from 43 participants (parents, key workers, and other stakeholders). All stakeholders who had been involved with the service were invited to participate. In the paper we present and discuss the ways in which key working made a difference to the lives of children and their families. We also consider how key working transformed the perspectives of the key workers creating a deeper and richer understanding of family lives and the ways in which other disciplines and agencies worked. Key working contributed to the shift to a much more family-centred approach...

Differences in Environmental Control and Asthma Outcomes Among Urban Latino, African American, and Non–Latino White Families

Everhart, Robin S.; Kopel, Sheryl; McQuaid, Elizabeth L.; Salcedo, Leslie; York, Daniel; Potter, Christina; Koinis-Mitchell, Daphne
Fonte: Mary Ann Liebert, Inc. Publicador: Mary Ann Liebert, Inc.
Tipo: Artigo de Revista Científica
Publicado em /09/2011 EN
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Latino and African American children with asthma are at increased risk for asthma morbidity compared with non–Latino White children. Environmental control (ie, environmental exposures and family strategies to control them) may contribute to greater asthma morbidity for ethnic minority children living in urban environments. This study examined ethnic differences in a semi-structured assessment of environmental control, associations between environmental control and asthma outcomes (asthma control, functional limitation, and emergency department [ED] use), and ethnic differences in environmental triggers in a sample of urban Latino, African American, and non–Latino White families. One hundred thirty-three children (6–13 years of age) and their caregivers completed demographic questionnaires, measures of asthma control and morbidity, and a semi-structured interview assessing environmental control. Reported environmental control differed significantly by ethnicity (P<0.05), with Latino families reporting higher levels of environmental control. Reported environmental control was significantly associated with asthma control (P<0.017) and functional limitation (P<0.017). Reported environmental control and ED use were significantly associated in Latino families (P<0.05). Non–Latino White and African American families reported more secondhand smoke exposure than Latino families (P<0.001). Latino families reported more optimal home environmental control than other ethnic groups. Substantial ethnic differences in asthma triggers suggest that observed ethnic disparities in asthma may be due...

Clinical and molecular analysis of the enamelin gene ENAM in Colombian families with autosomal dominant amelogenesis imperfecta

Gutiérrez, Sandra; Torres, Diana; Briceño, Ignacio; Gómez, Ana Maria; Baquero, Eliana
Fonte: Sociedade Brasileira de Genética Publicador: Sociedade Brasileira de Genética
Tipo: Artigo de Revista Científica
EN
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In this study, we analyzed the phenotype, clinical characteristics and presence of mutations in the enamelin gene ENAM in five Colombian families with autosomal dominant amelogenesis imperfecta (ADAI). 22 individuals (15 affected and seven unaffected) belonging to five Colombian families with ADAI and eight individuals (three affected and five unaffected) belonging to three Colombian families with autosomal recessive amelogenesis imperfecta (ARAI) that served as controls for molecular alterations and inheritance patterns were studied. Clinical, radiographic and genetic evaluations were done in all individuals. Eight exons and three intron-exon boundaries were sequenced for mutation analysis. Two of the five families with ADAI had the hypoplasic phenotype, two had the hypocalcified phenotype and one had the hypomaturative phenotype. Anterior open bite and mandibular retrognathism were the most frequent skeletal abnormalities in the families with ADAI. No mutations were found. These findings suggest that ADAI in these Colombian families was unrelated to previously described mutations in the ENAM gene. These results also indicate that other regions not included in this investigation, such as the promoter region, introns and other genes should be considered as potential ADAI candidates.

Prevalence of the variant allele rs61764370 T>G in the 3′UTR of KRAS among Dutch BRCA1, BRCA2 and non-BRCA1/BRCA2 breast cancer families

Hollestelle, Antoinette; Pelletier, Cory; Hooning, Maartje; Crepin, Ellen; Schutte, Mieke; Look, Maxime; Collee, J. Margriet; Nieuwlaat, Anja; Dorssers, Lambert C. J.; Seynaeve, Caroline; Aulchenko, Yurii S.; Martens, John W. M.; van den Ouweland, Ans M.
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
EN
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Recently, a variant allele in the 3′UTR of the KRAS gene (rs61764370 T>G) was shown to be associated with an increased risk for developing non-small cell lung cancer, as well as ovarian cancer, and was most enriched in ovarian cancer patients from hereditary breast and ovarian cancer families. This functional variant has been shown to disrupt a let-7 miRNA binding site leading to increased expression of KRAS in vitro. In the current study, we have genotyped this KRAS-variant in breast cancer index cases from 268 BRCA1 families, 89 BRCA2 families, 685 non-BRCA1/BRCA2 families, and 797 geographically matched controls. The allele frequency of the KRAS-variant was found to be increased among patients with breast cancer from BRCA1, but not BRCA2 or non-BRCA1/BRCA2 families as compared to controls. As BRCA1 carriers mostly develop ER-negative breast cancers, we also examined the variant allele frequency among indexes from non-BRCA1/BRCA2 families with ER-negative breast cancer. The prevalence of the KRAS-variant was, however, not significantly increased as compared to controls, suggesting that the variant allele not just simply associates with ER-negative breast cancer. Subsequent expansion of the number of BRCA1 carriers with breast cancer by including other family members in addition to the index cases resulted in loss of significance for the association between the variant allele and mutant BRCA1 breast cancer. In this same cohort...

A Comparative Genome Analysis of PME and PMEI Families Reveals the Evolution of Pectin Metabolism in Plant Cell Walls

Wang, Maojun; Yuan, Daojun; Gao, Wenhui; Li, Yang; Tan, Jiafu; Zhang, Xianlong
Fonte: Public Library of Science Publicador: Public Library of Science
Tipo: Artigo de Revista Científica
Publicado em 12/08/2013 EN
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Pectins are fundamental polysaccharides in the plant primary cell wall. Pectins are synthesized and secreted to cell walls as highly methyl-esterified polymers and then demethyl-esterified by pectin methylesterases (PMEs), which are spatially regulated by pectin methylesterase inhibitors (PMEIs). Although PME and PMEI genes are pivotal in plant cell wall formation, few studies have focused on the evolutionary patterns of the PME and PMEI gene families. In this study, the gene origin, evolution, and expression diversity of these two families were systematically analyzed using 11 representative species, including algae, bryophytes, lycophytes and flowering land plants. The results show that 1) for the two subfamilies (PME and proPME) of PME, the origin of the PME subfamily is consistent with the appearance of pectins in early charophyte cell walls, 2) Whole genome duplication (WGD) and tandem duplication contribute to the expansion of proPME and PMEI families in land plants, 3) Evidence of selection pressure shows that the proPME and PMEI families have rapidly evolved, particularly the PMEI family in vascular plants, and 4) Comparative expression profile analysis of the two families indicates that the eudicot Arabidopsis and monocot rice have different expression patterns. In addition...

Evolutionary Origin of the Scombridae (Tunas and Mackerels): Members of a Paleogene Adaptive Radiation with 14 Other Pelagic Fish Families

Miya, Masaki; Friedman, Matt; Satoh, Takashi P.; Takeshima, Hirohiko; Sado, Tetsuya; Iwasaki, Wataru; Yamanoue, Yusuke; Nakatani, Masanori; Mabuchi, Kohji; Inoue, Jun G.; Poulsen, Jan Yde; Fukunaga, Tsukasa; Sato, Yukuto; Nishida, Mutsumi
Fonte: Public Library of Science Publicador: Public Library of Science
Tipo: Artigo de Revista Científica
Publicado em 04/09/2013 EN
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Uncertainties surrounding the evolutionary origin of the epipelagic fish family Scombridae (tunas and mackerels) are symptomatic of the difficulties in resolving suprafamilial relationships within Percomorpha, a hyperdiverse teleost radiation that contains approximately 17,000 species placed in 13 ill-defined orders and 269 families. Here we find that scombrids share a common ancestry with 14 families based on (i) bioinformatic analyses using partial mitochondrial and nuclear gene sequences from all percomorphs deposited in GenBank (10,733 sequences) and (ii) subsequent mitogenomic analysis based on 57 species from those targeted 15 families and 67 outgroup taxa. Morphological heterogeneity among these 15 families is so extraordinary that they have been placed in six different perciform suborders. However, members of the 15 families are either coastal or oceanic pelagic in their ecology with diverse modes of life, suggesting that they represent a previously undetected adaptive radiation in the pelagic realm. Time-calibrated phylogenies imply that scombrids originated from a deep-ocean ancestor and began to radiate after the end-Cretaceous when large predatory epipelagic fishes were selective victims of the Cretaceous-Paleogene mass extinction. We name this clade of open-ocean fishes containing Scombridae “Pelagia” in reference to the common habitat preference that links the 15 families.

Exploration of miRNA families for hypotheses generation

Kamanu, Timothy K. K.; Radovanovic, Aleksandar; Archer, John A. C.; Bajic, Vladimir B.
Fonte: Nature Publishing Group Publicador: Nature Publishing Group
Tipo: Artigo de Revista Científica
Publicado em 15/10/2013 EN
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Technological improvements have resulted in increased discovery of new microRNAs (miRNAs) and refinement and enrichment of existing miRNA families. miRNA families are important because they suggest a common sequence or structure configuration in sets of genes that hint to a shared function. Exploratory tools to enhance investigation of characteristics of miRNA families and the functions of family-specific miRNA genes are lacking. We have developed, miRNAVISA, a user-friendly web-based tool that allows customized interrogation and comparisons of miRNA families for hypotheses generation, and comparison of per-species chromosomal distribution of miRNA genes in different families. This study illustrates hypothesis generation using miRNAVISA in seven species. Our results unveil a subclass of miRNAs that may be regulated by genomic imprinting, and also suggest that some miRNA families may be species-specific, as well as chromosome- and/or strand-specific.

Association of genetic variants in CDK6 and XRCC1 with the risk of dysplastic nevi in melanoma-prone families

Liang, Xueying; Pfeiffer, Ruth M.; Li, Wen-Qing; Brossard, Myriam; Burke, Laura S.; Wheeler, William; Calista, Donato; Fargnoli, Maria Concetta; Ghiorzo, Paola; Peris, Ketty; Bianchi-Scarra’, Giovanna; Chaudru, Valerie; Zelenika, Diana; Maeder, Dennis;
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
EN
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Dysplastic nevi (DN) is a strong risk factor for cutaneous malignant melanoma (CMM), and it frequently occurs in melanoma-prone families. To identify genetic variants for DN, we genotyped 677 tagSNPs in 38 melanoma candidate genes that are involved in pigmentation, DNA repair, cell cycle control, and melanocyte proliferation pathways in a total of 504 individuals (310 with DN, 194 without DN) from 53 melanoma-prone families (23 CDKN2A mutation positive and 30 negative). Conditional logistic regression, conditioning on families, was used to estimate the association between DN and each SNP separately, adjusted for age, sex, CMM and CDKN2A status. P-values for SNPs in the same gene were combined to yield gene-specific p-values. Two genes, CDK6 and XRCC1, were significantly associated with DN after Bonferroni correction for multiple testing (P=0.0001 and 0.00025, respectively), whereas neither gene was significantly associated with CMM. Associations for CDK6 SNPs were stronger in CDKN2A mutation positive families (rs2079147, Pinteraction=0.0033), whereas XRCC1 SNPs had similar effects in mutation-positive and negative families. The association for one of the associated SNPs in XRCC1 (rs25487) was replicated in two independent datasets (random effect meta-analysis: P<0.0001). Our findings suggest that some genetic variants may contribute to DN risk independently of their association with CMM in melanoma-prone families.

Developing Preventive Mental Health Interventions for Refugee Families in Resettlement

WEINE, STEVAN MERRILL
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em /09/2011 EN
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In refugee resettlement, positive psychosocial outcomes for youth and adults depend to a great extent on their families. Yet refugee families find few empirically based services geared toward them. Preventive mental health interventions that aim to stop, lessen, or delay possible negative individual mental health and behavioral sequelae through improving family and community protective resources in resettled refugee families are needed. This paper describes 8 characteristics that preventive mental health interventions should address to meet the needs of refugee families, including: Feasibility, Acceptability, Culturally Tailored, Multilevel, Time Focused, Prosaicness, Effectiveness, and Adaptability. To address these 8 characteristics in the complex environment of refugee resettlement requires modifying the process of developmental research through incorporating innovative mental health services research strategies, including: resilience framework, community collaboration, mixed methods with focused ethnography, and the comprehensive dynamic trial. A preventive intervention development cycle for refugee families is proposed based on a program of research on refugees and migrants using these services research strategies. Furthering preventive mental health for refugee families also requires new policy directives...

Homes of low-income minority families with asthmatic children have increased condition issues

Pacheco, Christina M.; Ciaccio, Christina E.; Nazir, Niaman; Daley, Christine M.; DiDonna, Anita; Choi, Won S.; Barnes, Charles S.; Rosenwasser, Lanny J.
Fonte: OceanSide Publications, Inc. Publicador: OceanSide Publications, Inc.
Tipo: Artigo de Revista Científica
Publicado em //2014 EN
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The home is increasingly associated with asthma. It acts both as a reservoir of asthma triggers and as a refuge from seasonal outdoor allergen exposure. Racial/ethnic minority families with low incomes tend to reside in neighborhoods with low housing quality. These families also have higher rates of asthma. This study explores the hypothesis that black and Latino urban households with asthmatic children experienced more home mechanical, structural condition–related areas of concern than white households with asthmatic children. Participant families (n = 140) took part in the Kansas City Safe and Healthy Homes Program, had at least one asthmatic child, and met income qualifications of no more than 80% of local median income; many were below 50%. Families self-identified their race. Homes were assessed by environmental health professionals using a standard set of criteria and a specific set of on-site and laboratory sampling and analyses. Homes were given a score for areas of concern between 0 (best) and 53 (worst). The study population self-identified as black (46%), non-Latino white (26%), Latino (14.3%), and other (12.9%). Mean number of areas of concern were 18.7 in Latino homes, 17.8 in black homes, 13.3 in other homes, and 13.2 in white homes. Latino and black homes had significantly more areas of concern. White families were also more likely to be in the upper portion of the income. In this set of 140 low-income homes with an asthmatic child...