Sample records for family vibrionaceae reveals

  1. Global and Phylogenetic Distribution of Quorum Sensing Signals, Acyl Homoserine Lactones, in the Family of Vibrionaceae

    PubMed Central

    Barker Rasmussen, Bastian; Fog Nielsen, Kristian; Machado, Henrique; Melchiorsen, Jette; Gram, Lone; Sonnenschein, Eva C.

    2014-01-01

    Bacterial quorum sensing (QS) and the corresponding signals, acyl homoserine lactones (AHLs), were first described for a luminescent Vibrio species. Since then, detailed knowledge has been gained on the functional level of QS; however, the abundance of AHLs in the family of Vibrionaceae in the environment has remained unclear. Three hundred and one Vibrionaceae strains were collected on a global research cruise and the prevalence and profile of AHL signals in this global collection were determined. AHLs were detected in 32 of the 301 strains using Agrobacterium tumefaciens and Chromobacterium violaceum reporter strains. Ethyl acetate extracts of the cultures were analysed by ultra-high performance liquid chromatography-high resolution mass spectrometry (MS) with automated tandem MS confirmation for AHLs. N-(3-hydroxy-hexanoyl) (OH-C6) and N-(3-hydroxy-decanoyl) (OH-C10) homoserine lactones were the most common AHLs found in 17 and 12 strains, respectively. Several strains produced a diversity of different AHLs, including N-heptanoyl (C7) HL. AHL-producing Vibrionaceae were found in polar, temperate and tropical waters. The AHL profiles correlated with strain phylogeny based on gene sequence homology, however not with geographical location. In conclusion, a wide range of AHL signals are produced by a number of clades in the Vibrionaceae family and these results will allow future investigations of inter- and intra-species interactions within this cosmopolitan family of marine bacteria. PMID:25419995

  2. Presence of acyl-homoserine lactones in 57 members of the Vibrionaceae family

    PubMed Central

    Purohit, AA; Johansen, J A; Hansen, H; Leiros, H-KS; Kashulin, A; Karlsen, C; Smalås, A; Haugen, P; Willassen, NP

    2013-01-01

    Aims The aim of this study was to use a sensitive method to screen and quantify 57 Vibrionaceae strains for the production of acyl-homoserine lactones (AHLs) and map the resulting AHL profiles onto a host phylogeny. Methods and Results We used a high-performance liquid chromatography–tandem mass spectrometry (HPLC-MS/MS) protocol to measure AHLs in spent media after bacterial growth. First, the presence/absence of AHLs (qualitative analysis) was measured to choose internal standard for subsequent quantitative AHL measurements. We screened 57 strains from three genera (Aliivibrio,Photobacterium and Vibrio) of the same family (i.e. Vibrionaceae). Our results show that about half of the isolates produced multiple AHLs, typically at 25–5000 nmol l−1. Conclusions This work shows that production of AHL quorum sensing signals is found widespread among Vibrionaceae bacteria and that closely related strains typically produce similar AHL profiles. Significance and Impact of the Study The AHL detection protocol presented in this study can be applied to a broad range of bacterial samples and may contribute to a wider mapping of AHL production in bacteria, for example, in clinically relevant strains. PMID:23725044

  3. Unique core genomes of the bacterial family vibrionaceae: insights into niche adaptation and speciation.

    PubMed

    Kahlke, Tim; Goesmann, Alexander; Hjerde, Erik; Willassen, Nils Peder; Haugen, Peik

    2012-05-10

    The criteria for defining bacterial species and even the concept of bacterial species itself are under debate, and the discussion is apparently intensifying as more genome sequence data is becoming available. However, it is still unclear how the new advances in genomics should be used most efficiently to address this question. In this study we identify genes that are common to any group of genomes in our dataset, to determine whether genes specific to a particular taxon exist and to investigate their potential role in adaptation of bacteria to their specific niche. These genes were named unique core genes. Additionally, we investigate the existence and importance of unique core genes that are found in isolates of phylogenetically non-coherent groups. These groups of isolates, that share a genetic feature without sharing a closest common ancestor, are termed genophyletic groups. The bacterial family Vibrionaceae was used as the model, and we compiled and compared genome sequences of 64 different isolates. Using the software orthoMCL we determined clusters of homologous genes among the investigated genome sequences. We used multilocus sequence analysis to build a host phylogeny and mapped the numbers of unique core genes of all distinct groups of isolates onto the tree. The results show that unique core genes are more likely to be found in monophyletic groups of isolates. Genophyletic groups of isolates, in contrast, are less common especially for large groups of isolate. The subsequent annotation of unique core genes that are present in genophyletic groups indicate a high degree of horizontally transferred genes. Finally, the annotation of the unique core genes of Vibrio cholerae revealed genes involved in aerotaxis and biosynthesis of the iron-chelator vibriobactin. The presented work indicates that genes specific for any taxon inside the bacterial family Vibrionaceae exist. These unique core genes encode conserved metabolic functions that can shed light on the

  4. Spatial and temporal distribution of the vibrionaceae in coastal waters of Hawaii, Australia, and France.

    PubMed

    Jones, B W; Maruyama, A; Ouverney, C C; Nishiguchi, M K

    2007-08-01

    Relatively little is known about large-scale spatial and temporal fluctuations in bacterioplankton, especially within the bacterial families. In general, however, a number of abiotic factors (namely, nutrients and temperature) appear to influence distribution. Community dynamics within the Vibrionaceae are of particular interest to biologists because this family contains a number of important pathogenic, commensal, and mutualist species. Of special interest to this study is the mutualism between sepiolid squids and Vibrio fischeri and Vibrio logei, where host squids seed surrounding waters daily with their bacterial partners. This study seeks to examine the spatial and temporal distribution of the Vibrionaceae with respect to V. fischeri and V. logei in Hawaii, southeastern Australia, and southern France sampling sites. In particular, we examine how the presence of sepiolid squid hosts influences community population structure within the Vibrionaceae. We found that abiotic (temperature) and biotic (host distribution) factors both influence population dynamics. In Hawaii, three sites within squid host habitat contained communities of Vibrionaceae with higher proportions of V. fischeri. In Australia, V. fischeri numbers at host collection sites were greater than other populations; however, there were no spatial or temporal patterns seen at other sample sites. In France, host presence did not appear to influence Vibrio communities, although sampled populations were significantly greater in the winter than summer sampling periods. Results of this study demonstrate the importance of understanding how both abiotic and biotic factors interact to influence bacterial community structure within the Vibrionaceae.

  5. Polar Flagellar Motility of the Vibrionaceae

    PubMed Central

    McCarter, Linda L.

    2001-01-01

    Polar flagella of Vibrio species can rotate at speeds as high as 100,000 rpm and effectively propel the bacteria in liquid as fast as 60 μm/s. The sodium motive force powers rotation of the filament, which acts as a propeller. The filament is complex, composed of multiple subunits, and sheathed by an extension of the cell outer membrane. The regulatory circuitry controlling expression of the polar flagellar genes of members of the Vibrionaceae is different from the peritrichous system of enteric bacteria or the polar system of Caulobacter crescentus. The scheme of gene control is also pertinent to other members of the gamma purple bacteria, in particular to Pseudomonas species. This review uses the framework of the polar flagellar system of Vibrio parahaemolyticus to provide a synthesis of what is known about polar motility systems of the Vibrionaceae. In addition to its propulsive role, the single polar flagellum of V. parahaemolyticus is believed to act as a tactile sensor controlling surface-induced gene expression. Under conditions that impede rotation of the polar flagellum, an alternate, lateral flagellar motility system is induced that enables movement through viscous environments and over surfaces. Although the dual flagellar systems possess no shared structural components and although distinct type III secretion systems direct the simultaneous placement and assembly of polar and lateral organelles, movement is coordinated by shared chemotaxis machinery. PMID:11528005

  6. Targeting the Replication Initiator of the Second Vibrio Chromosome: Towards Generation of Vibrionaceae-Specific Antimicrobial Agents

    PubMed Central

    Yamaichi, Yoshiharu; Duigou, Stéphane; Shakhnovich, Elizabeth A.; Waldor, Matthew K.

    2009-01-01

    The Vibrionaceae is comprised of numerous aquatic species and includes several human pathogens, such as Vibrio cholerae, the cause of cholera. All organisms in this family have two chromosomes, and replication of the smaller one depends on rctB, a gene that is restricted to the Vibrionaceae. Given the increasing prevalence of multi-drug resistance in pathogenic vibrios, there is a need for new targets and drugs to combat these pathogens. Here, we carried out a high throughput cell-based screen to find small molecule inhibitors of RctB. We identified a compound that blocked growth of an E. coli strain bearing an rctB-dependent plasmid but did not influence growth of E. coli lacking this plasmid. This compound, designated vibrepin, had potent cidal activity against V. cholerae and inhibited the growth of all vibrio species tested. Vibrepin blocked RctB oriCII unwinding, apparently by promoting formation of large non-functional RctB complexes. Although vibrepin also appears to have targets other than RctB, our findings suggest that RctB is an attractive target for generation of novel antibiotics that only block growth of vibrios. Vibrio-specific agents, unlike antibiotics currently used in clinical practice, will not engender resistance in the normal human flora or in non-vibrio environmental microorganisms. PMID:19936046

  7. Production of Bioactive Secondary Metabolites by Marine Vibrionaceae

    PubMed Central

    Mansson, Maria; Gram, Lone; Larsen, Thomas O.

    2011-01-01

    Bacteria belonging to the Vibrionaceae family are widespread in the marine environment. Today, 128 species of vibrios are known. Several of them are infamous for their pathogenicity or symbiotic relationships. Despite their ability to interact with eukaryotes, the vibrios are greatly underexplored for their ability to produce bioactive secondary metabolites and studies have been limited to only a few species. Most of the compounds isolated from vibrios so far are non-ribosomal peptides or hybrids thereof, with examples of N-containing compounds produced independent of nonribosomal peptide synthetases (NRPS). Though covering a limited chemical space, vibrios produce compounds with attractive biological activities, including antibacterial, anticancer, and antivirulence activities. This review highlights some of the most interesting structures from this group of bacteria. Many compounds found in vibrios have also been isolated from other distantly related bacteria. This cosmopolitan occurrence of metabolites indicates a high incidence of horizontal gene transfer, which raises interesting questions concerning the ecological function of some of these molecules. This account underlines the pending potential for exploring new bacterial sources of bioactive compounds and the challenges related to their investigation. PMID:22131950

  8. Influence of Niche-Specific Nutrients on Secondary Metabolism in Vibrionaceae.

    PubMed

    Giubergia, Sonia; Phippen, Christopher; Gotfredsen, Charlotte H; Nielsen, Kristian Fog; Gram, Lone

    2016-07-01

    Many factors, such as the substrate and the growth phase, influence biosynthesis of secondary metabolites in microorganisms. Therefore, it is crucial to consider these factors when establishing a bioprospecting strategy. Mimicking the conditions of the natural environment has been suggested as a means of inducing or influencing microbial secondary metabolite production. The purpose of the present study was to determine how the bioactivity of Vibrionaceae was influenced by carbon sources typical of their natural environment. We determined how mannose and chitin, compared to glucose, influenced the antibacterial activity of a collection of Vibrionaceae strains isolated because of their ability to produce antibacterial compounds but that in subsequent screenings seemed to have lost this ability. The numbers of bioactive isolates were 2- and 3.5-fold higher when strains were grown on mannose and chitin, respectively, than on glucose. As secondary metabolites are typically produced during late growth, potential producers were also allowed 1 to 2 days of growth before exposure to the pathogen. This strategy led to a 3-fold increase in the number of bioactive strains on glucose and an 8-fold increase on both chitin and mannose. We selected two bioactive strains belonging to species for which antibacterial activity had not previously been identified. Using ultrahigh-performance liquid chromatography-high-resolution mass spectrometry and bioassay-guided fractionation, we found that the siderophore fluvibactin was responsible for the antibacterial activity of Vibrio furnissii and Vibrio fluvialis These results suggest a role of chitin in the regulation of secondary metabolism in vibrios and demonstrate that considering bacterial ecophysiology during development of screening strategies will facilitate bioprospecting. A challenge in microbial natural product discovery is the elicitation of the biosynthetic gene clusters that are silent when microorganisms are grown under

  9. Comparative analysis of quantitative methodologies for Vibrionaceae biofilms.

    PubMed

    Chavez-Dozal, Alba A; Nourabadi, Neda; Erken, Martina; McDougald, Diane; Nishiguchi, Michele K

    2016-11-01

    Multiple symbiotic and free-living Vibrio spp. grow as a form of microbial community known as a biofilm. In the laboratory, methods to quantify Vibrio biofilm mass include crystal violet staining, direct colony-forming unit (CFU) counting, dry biofilm cell mass measurement, and observation of development of wrinkled colonies. Another approach for bacterial biofilms also involves the use of tetrazolium (XTT) assays (used widely in studies of fungi) that are an appropriate measure of metabolic activity and vitality of cells within the biofilm matrix. This study systematically tested five techniques, among which the XTT assay and wrinkled colony measurement provided the most reproducible, accurate, and efficient methods for the quantitative estimation of Vibrionaceae biofilms.

  10. Fluorogenic membrane overlays to enumerate total coliforms, Escherichia coli, and total Vibrionaceae in shellfish and seawater

    USDA-ARS?s Scientific Manuscript database

    Three assays were developed to enumerate total coliforms, Escherichia coli, and total Vibrionaceae in shellfish and other foods and in seawater and other environmental samples. Assays involve membrane overlays of overnight colonies on non-selective agar plates to detect ß-glucuronidase and lysyl am...

  11. Water quality parameters and total aerobic bacterial and vibrionaceae loads in eastern oysters (Crassostrea virginica) from oyster gardening sites

    USDA-ARS?s Scientific Manuscript database

    Oyster gardening is a practice designed to restore habitat for marine life and to improve water quality. This study determined physical and chemical water quality parameters at two oyster gardening sites in the Delaware Inland Bays and compared them with total aerobic bacteria and Vibrionaceae conc...

  12. The effect of suspending solution supplemented with marine cations on the oxidation of Biolog GN MicroPlate substrates by Vibrionaceae bacteria.

    PubMed

    Noble, L D; Gow, J A

    1998-03-01

    Bacteria belonging to the family Vibrionaceae were suspended using saline and a solution prepared from a marine-cations supplement. The effect of this on the profile of oxidized substrates obtained when using Biolog GN MicroPlates was investigated. Thirty-nine species belonging to the genera Aeromonas, Listonella, Photobacterium, and Vibrio were studied. Of the strains studied, species of Listonella, Photobacterium, and Vibrio could be expected to benefit from a marine-cations supplement that contained Na+, K+, and Mg2+. Bacteria that are not of marine origin are usually suspended in normal saline. Of the 39 species examined, 9 were not included in the Biolog data base and were not identified. Of the 30 remaining species, 50% were identified correctly using either of the suspending solutions. A further 20% were correctly identified only when suspended in saline. Three species, or 10%, were correctly identified only after suspension in the marine-cations supplemented solution. The remaining 20% of species were not correctly identified by either method. Generally, more substrates were oxidized when the bacteria had been suspended in the more complex salts solution. Usually, when identifications were incorrect, the use of the marine-cations supplemented suspending solution had resulted in many more substrates being oxidized. Based on these results, it would be preferable to use saline to suspend the cells when using Biolog for identification of species of Vibrionaceae. A salts solution containing a marine-cations supplement would be preferable for environmental studies where the objective is to determine profiles of substrates that the bacteria have the potential to oxidize. If identifications are done using marine-cations supplemented suspending solution, it would be advisable to include reference cultures to determine the effect of the supplement. Of the Vibrio and Listonella species associated with human clinical specimens, 8 out of the 11 studied were identified

  13. Synchronous termination of replication of the two chromosomes is an evolutionary selected feature in Vibrionaceae

    PubMed Central

    Kemter, Franziska S.; Messerschmidt, Sonja J.; Schallopp, Nadine; Sobetzko, Patrick; Bunk, Boyke; Spröer, Cathrin; Teschler, Jennifer K.; Yildiz, Fitnat H.

    2018-01-01

    Vibrio cholerae, the causative agent of the cholera disease, is commonly used as a model organism for the study of bacteria with multipartite genomes. Its two chromosomes of different sizes initiate their DNA replication at distinct time points in the cell cycle and terminate in synchrony. In this study, the time-delayed start of Chr2 was verified in a synchronized cell population. This replication pattern suggests two possible regulation mechanisms for other Vibrio species with different sized secondary chromosomes: Either all Chr2 start DNA replication with a fixed delay after Chr1 initiation, or the timepoint at which Chr2 initiates varies such that termination of chromosomal replication occurs in synchrony. We investigated these two models and revealed that the two chromosomes of various Vibrionaceae species terminate in synchrony while Chr2-initiation timing relative to Chr1 is variable. Moreover, the sequence and function of the Chr2-triggering crtS site recently discovered in V. cholerae were found to be conserved, explaining the observed timing mechanism. Our results suggest that it is beneficial for bacterial cells with multiple chromosomes to synchronize their replication termination, potentially to optimize chromosome related processes as dimer resolution or segregation. PMID:29505558

  14. Advanced Microbial Taxonomy Combined with Genome-Based-Approaches Reveals that Vibrio astriarenae sp. nov., an Agarolytic Marine Bacterium, Forms a New Clade in Vibrionaceae.

    PubMed

    Al-Saari, Nurhidayu; Gao, Feng; Rohul, Amin A K M; Sato, Kazumichi; Sato, Keisuke; Mino, Sayaka; Suda, Wataru; Oshima, Kenshiro; Hattori, Masahira; Ohkuma, Moriya; Meirelles, Pedro M; Thompson, Fabiano L; Thompson, Cristiane; Filho, Gilberto M A; Gomez-Gil, Bruno; Sawabe, Toko; Sawabe, Tomoo

    2015-01-01

    Advances in genomic microbial taxonomy have opened the way to create a more universal and transparent concept of species but is still in a transitional stage towards becoming a defining robust criteria for describing new microbial species with minimum features obtained using both genome and classical polyphasic taxonomies. Here we performed advanced microbial taxonomies combined with both genome-based and classical approaches for new agarolytic vibrio isolates to describe not only a novel Vibrio species but also a member of a new Vibrio clade. Two novel vibrio strains (Vibrio astriarenae sp. nov. C7T and C20) showing agarolytic, halophilic and fermentative metabolic activity were isolated from a seawater sample collected in a coral reef in Okinawa. Intraspecific similarities of the isolates were identical in both sequences on the 16S rRNA and pyrH genes, but the closest relatives on the molecular phylogenetic trees on the basis of 16S rRNA and pyrH gene sequences were V. hangzhouensis JCM 15146T (97.8% similarity) and V. agarivorans CECT 5085T (97.3% similarity), respectively. Further multilocus sequence analysis (MLSA) on the basis of 8 protein coding genes (ftsZ, gapA, gyrB, mreB, pyrH, recA, rpoA, and topA) obtained by the genome sequences clearly showed the V. astriarenae strain C7T and C20 formed a distinct new clade protruded next to V. agarivorans CECT 5085T. The singleton V. agarivorans has never been included in previous MLSA of Vibrionaceae due to the lack of some gene sequences. Now the gene sequences are completed and analysis of 100 taxa in total provided a clear picture describing the association of V. agarivorans into pre-existing concatenated network tree and concluded its relationship to our vibrio strains. Experimental DNA-DNA hybridization (DDH) data showed that the strains C7T and C20 were conspecific but were separated from all of the other Vibrio species related on the basis of both 16S rRNA and pyrH gene phylogenies (e.g., V. agarivorans CECT

  15. Associations and dynamics of Vibrionaceae in the environment, from the genus to the population level

    PubMed Central

    Takemura, Alison F.; Chien, Diana M.; Polz, Martin F.

    2013-01-01

    The Vibrionaceae, which encompasses several potential pathogens, including V. cholerae, the causative agent of cholera, and V. vulnificus, the deadliest seafood-borne pathogen, are a well-studied family of marine bacteria that thrive in diverse habitats. To elucidate the environmental conditions under which vibrios proliferate, numerous studies have examined correlations with bulk environmental variables—e.g., temperature, salinity, nitrogen, and phosphate—and association with potential host organisms. However, how meaningful these environmental associations are remains unclear because data are fragmented across studies with variable sampling and analysis methods. Here, we synthesize findings about Vibrio correlations and physical associations using a framework of increasingly fine environmental and taxonomic scales, to better understand their dynamics in the wild. We first conduct a meta-analysis to determine trends with respect to bulk water environmental variables, and find that while temperature and salinity are generally strongly predictive correlates, other parameters are inconsistent and overall patterns depend on taxonomic resolution. Based on the hypothesis that dynamics may better correlate with more narrowly defined niches, we review evidence for specific association with plants, algae, zooplankton, and animals. We find that Vibrio are attached to many organisms, though evidence for enrichment compared to the water column is often lacking. Additionally, contrary to the notion that they flourish predominantly while attached, Vibrio can have, at least temporarily, a free-living lifestyle and even engage in massive blooms. Fine-scale sampling from the water column has enabled identification of such lifestyle preferences for ecologically cohesive populations, and future efforts will benefit from similar analysis at fine genetic and environmental sampling scales to describe the conditions, habitats, and resources shaping Vibrio dynamics. PMID:24575082

  16. Comparative Genomics Reveals High Genomic Diversity in the Genus Photobacterium.

    PubMed

    Machado, Henrique; Gram, Lone

    2017-01-01

    Vibrionaceae is a large marine bacterial family, which can constitute up to 50% of the prokaryotic population in marine waters. Photobacterium is the second largest genus in the family and we used comparative genomics on 35 strains representing 16 of the 28 species described so far, to understand the genomic diversity present in the Photobacterium genus. Such understanding is important for ecophysiology studies of the genus. We used whole genome sequences to evaluate phylogenetic relationships using several analyses (16S rRNA, MLSA, fur , amino-acid usage, ANI), which allowed us to identify two misidentified strains. Genome analyses also revealed occurrence of higher and lower GC content clades, correlating with phylogenetic clusters. Pan- and core-genome analysis revealed the conservation of 25% of the genome throughout the genus, with a large and open pan-genome. The major source of genomic diversity could be traced to the smaller chromosome and plasmids. Several of the physiological traits studied in the genus did not correlate with phylogenetic data. Since horizontal gene transfer (HGT) is often suggested as a source of genetic diversity and a potential driver of genomic evolution in bacterial species, we looked into evidence of such in Photobacterium genomes. Genomic islands were the source of genomic differences between strains of the same species. Also, we found transposase genes and CRISPR arrays that suggest multiple encounters with foreign DNA. Presence of genomic exchange traits was widespread and abundant in the genus, suggesting a role in genomic evolution. The high genetic variability and indications of genetic exchange make it difficult to elucidate genome evolutionary paths and raise the awareness of the roles of foreign DNA in the genomic evolution of environmental organisms.

  17. Comparative Genomics Reveals High Genomic Diversity in the Genus Photobacterium

    PubMed Central

    Machado, Henrique; Gram, Lone

    2017-01-01

    Vibrionaceae is a large marine bacterial family, which can constitute up to 50% of the prokaryotic population in marine waters. Photobacterium is the second largest genus in the family and we used comparative genomics on 35 strains representing 16 of the 28 species described so far, to understand the genomic diversity present in the Photobacterium genus. Such understanding is important for ecophysiology studies of the genus. We used whole genome sequences to evaluate phylogenetic relationships using several analyses (16S rRNA, MLSA, fur, amino-acid usage, ANI), which allowed us to identify two misidentified strains. Genome analyses also revealed occurrence of higher and lower GC content clades, correlating with phylogenetic clusters. Pan- and core-genome analysis revealed the conservation of 25% of the genome throughout the genus, with a large and open pan-genome. The major source of genomic diversity could be traced to the smaller chromosome and plasmids. Several of the physiological traits studied in the genus did not correlate with phylogenetic data. Since horizontal gene transfer (HGT) is often suggested as a source of genetic diversity and a potential driver of genomic evolution in bacterial species, we looked into evidence of such in Photobacterium genomes. Genomic islands were the source of genomic differences between strains of the same species. Also, we found transposase genes and CRISPR arrays that suggest multiple encounters with foreign DNA. Presence of genomic exchange traits was widespread and abundant in the genus, suggesting a role in genomic evolution. The high genetic variability and indications of genetic exchange make it difficult to elucidate genome evolutionary paths and raise the awareness of the roles of foreign DNA in the genomic evolution of environmental organisms. PMID:28706512

  18. Activity screening of environmental metagenomic libraries reveals novel carboxylesterase families

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Popovic, Ana; Hai, Tran; Tchigvintsev, Anatoly

    Metagenomics has made accessible an enormous reserve of global biochemical diversity. In order to tap into this vast resource of novel enzymes, we have screened over one million clones from metagenome DNA libraries derived from sixteen different environments for carboxylesterase activity and identified 714 positive hits. Here, we validated the esterase activity of 80 selected genes, which belong to 17 different protein families including unknown and cyclase-like proteins. Three metagenomic enzymes exhibited lipase activity, and seven proteins showed polyester depolymerization activity against polylactic acid and polycaprolactone. Detailed biochemical characterization of four new enzymes revealed their substrate preference, whereas their catalyticmore » residues were identified using site-directed mutagenesis. The crystal structure of the metal-ion dependent esterase MGS0169 from the amidohydrolase superfamily revealed a novel active site with a bound unknown ligand. Thus, activity-centered metagenomics has revealed diverse enzymes and novel families of microbial carboxylesterases, whose activity could not have been predicted using bioinformatics tools.« less

  19. Activity screening of environmental metagenomic libraries reveals novel carboxylesterase families

    DOE PAGES

    Popovic, Ana; Hai, Tran; Tchigvintsev, Anatoly; ...

    2017-03-08

    Metagenomics has made accessible an enormous reserve of global biochemical diversity. In order to tap into this vast resource of novel enzymes, we have screened over one million clones from metagenome DNA libraries derived from sixteen different environments for carboxylesterase activity and identified 714 positive hits. Here, we validated the esterase activity of 80 selected genes, which belong to 17 different protein families including unknown and cyclase-like proteins. Three metagenomic enzymes exhibited lipase activity, and seven proteins showed polyester depolymerization activity against polylactic acid and polycaprolactone. Detailed biochemical characterization of four new enzymes revealed their substrate preference, whereas their catalyticmore » residues were identified using site-directed mutagenesis. The crystal structure of the metal-ion dependent esterase MGS0169 from the amidohydrolase superfamily revealed a novel active site with a bound unknown ligand. Thus, activity-centered metagenomics has revealed diverse enzymes and novel families of microbial carboxylesterases, whose activity could not have been predicted using bioinformatics tools.« less

  20. Analysis of the SOS response of Vibrio and other bacteria with multiple chromosomes

    PubMed Central

    2012-01-01

    Background The SOS response is a well-known regulatory network present in most bacteria and aimed at addressing DNA damage. It has also been linked extensively to stress-induced mutagenesis, virulence and the emergence and dissemination of antibiotic resistance determinants. Recently, the SOS response has been shown to regulate the activity of integrases in the chromosomal superintegrons of the Vibrionaceae, which encompasses a wide range of pathogenic species harboring multiple chromosomes. Here we combine in silico and in vitro techniques to perform a comparative genomics analysis of the SOS regulon in the Vibrionaceae, and we extend the methodology to map this transcriptional network in other bacterial species harboring multiple chromosomes. Results Our analysis provides the first comprehensive description of the SOS response in a family (Vibrionaceae) that includes major human pathogens. It also identifies several previously unreported members of the SOS transcriptional network, including two proteins of unknown function. The analysis of the SOS response in other bacterial species with multiple chromosomes uncovers additional regulon members and reveals that there is a conserved core of SOS genes, and that specialized additions to this basic network take place in different phylogenetic groups. Our results also indicate that across all groups the main elements of the SOS response are always found in the large chromosome, whereas specialized additions are found in the smaller chromosomes and plasmids. Conclusions Our findings confirm that the SOS response of the Vibrionaceae is strongly linked with pathogenicity and dissemination of antibiotic resistance, and suggest that the characterization of the newly identified members of this regulon could provide key insights into the pathogenesis of Vibrio. The persistent location of key SOS genes in the large chromosome across several bacterial groups confirms that the SOS response plays an essential role in these

  1. Analysis of the SOS response of Vibrio and other bacteria with multiple chromosomes.

    PubMed

    Sanchez-Alberola, Neus; Campoy, Susana; Barbé, Jordi; Erill, Ivan

    2012-02-03

    The SOS response is a well-known regulatory network present in most bacteria and aimed at addressing DNA damage. It has also been linked extensively to stress-induced mutagenesis, virulence and the emergence and dissemination of antibiotic resistance determinants. Recently, the SOS response has been shown to regulate the activity of integrases in the chromosomal superintegrons of the Vibrionaceae, which encompasses a wide range of pathogenic species harboring multiple chromosomes. Here we combine in silico and in vitro techniques to perform a comparative genomics analysis of the SOS regulon in the Vibrionaceae, and we extend the methodology to map this transcriptional network in other bacterial species harboring multiple chromosomes. Our analysis provides the first comprehensive description of the SOS response in a family (Vibrionaceae) that includes major human pathogens. It also identifies several previously unreported members of the SOS transcriptional network, including two proteins of unknown function. The analysis of the SOS response in other bacterial species with multiple chromosomes uncovers additional regulon members and reveals that there is a conserved core of SOS genes, and that specialized additions to this basic network take place in different phylogenetic groups. Our results also indicate that across all groups the main elements of the SOS response are always found in the large chromosome, whereas specialized additions are found in the smaller chromosomes and plasmids. Our findings confirm that the SOS response of the Vibrionaceae is strongly linked with pathogenicity and dissemination of antibiotic resistance, and suggest that the characterization of the newly identified members of this regulon could provide key insights into the pathogenesis of Vibrio. The persistent location of key SOS genes in the large chromosome across several bacterial groups confirms that the SOS response plays an essential role in these organisms and sheds light into the

  2. [The family revealing itself as a being of rights during hospitalization of the child].

    PubMed

    Xavier, Daiani Modernel; Gomes, Giovana Calcagno; Barlem, Edison Luiz Devos; Erdmann, Alacoque Lorenzini

    2013-12-01

    This is a descriptive study with a qualitative approach, carried out during the second half of 2011, in a Pediatric Unit in a city in the extreme South of Brazil. The study aimed to understand the situations in which families reveal themselves as beings of rights during the hospitalization of the child. Fifteen family caregivers participated, divided into three sample groups. Data collection was conducted through semi-structured interviews, and the data were analyzed using open, axial and selective analysis. The study had the Grounded Theory as methodological framework. It was found that the family revealed itself as a being of rights, when recognized as such, is called and fights for their rights; suggests improvements for the care and maintains its autonomy, even if it has to submit to the decisions of the team in the child favor. It was concluded that is essential to allow them to be families in the hospital, enabling the exercise of their rights and citizenship.

  3. The toxR Gene of Vibrio (Listonella) anguillarum Controls Expression of the Major Outer Membrane Proteins but Not Virulence in a Natural Host Model

    PubMed Central

    Okuda, Jun; Nakai, Toshihiro; Chang, Park Se; Oh, Takanori; Nishino, Takeshi; Koitabashi, Tsutomu; Nishibuchi, Mitsuaki

    2001-01-01

    To examine the hypothesis that the ancestral role of the toxR gene in the family Vibrionaceae is control of the expression of outer membrane protein (OMP)-encoding genes for adaptation to environmental change, we investigated the role of the toxR gene in Vibrio anguillarum, an important fish pathogen. The toxR gene of V. angullarum (Va-toxR) was cloned from strain PT-87050 isolated from diseased ayu (Plecoglossus altivelis), and the sequence was analyzed. The toxR sequence was 63 to 51% identical to those reported for other species of the family Vibrionaceae. Distribution of the Va-toxR gene sequence in V. anguillarum strains of various serotypes was confirmed by using DNA probe and PCR methods. An isogenic toxR mutant of V. anguillarum PT-24, isolated from diseased ayu, was constructed by using an allelic exchange method. The wild-type strain and the toxR mutant did not differ in the ability to produce a protease(s) and a hemolysin(s) or in pathogenicity for ayu when examined by the intramuscular injection and immersion methods. A 35-kDa major OMP was not produced by the toxR mutant. However, a 46-kDa OMP was hardly detected in the wild-type strain but was produced as the major OMP by the toxR mutant. For the toxR mutant, the MICs of two β-lactam antibiotics were higher and the minimum bactericidal concentration of sodium dodecyl sulfate was lower than for the wild-type strain. Analysis of the N-terminal amino acid sequences of the 35- and 46-kDa OMPs indicated that these proteins are the porin-like OMPs and are related to the toxR-regulated major OMPs of the family Vibrionaceae. The results indicate that the toxR gene is not involved in virulence expression in V. anguillarum PT-24 and that toxR regulation of major OMPs is universal in the family Vibrionaceae. These results support the hypothesis that the ancestral role of the toxR gene is regulation of OMP gene expression and that only in some Vibrio species has ToxR been appropriated for the regulation of a

  4. Characterization of the avian Trojan gene family reveals contrasting evolutionary constraints.

    PubMed

    Petrov, Petar; Syrjänen, Riikka; Smith, Jacqueline; Gutowska, Maria Weronika; Uchida, Tatsuya; Vainio, Olli; Burt, David W

    2015-01-01

    "Trojan" is a leukocyte-specific, cell surface protein originally identified in the chicken. Its molecular function has been hypothesized to be related to anti-apoptosis and the proliferation of immune cells. The Trojan gene has been localized onto the Z sex chromosome. The adjacent two genes also show significant homology to Trojan, suggesting the existence of a novel gene/protein family. Here, we characterize this Trojan family, identify homologues in other species and predict evolutionary constraints on these genes. The two Trojan-related proteins in chicken were predicted as a receptor-type tyrosine phosphatase and a transmembrane protein, bearing a cytoplasmic immuno-receptor tyrosine-based activation motif. We identified the Trojan gene family in ten other bird species and found related genes in three reptiles and a fish species. The phylogenetic analysis of the homologues revealed a gradual diversification among the family members. Evolutionary analyzes of the avian genes predicted that the extracellular regions of the proteins have been subjected to positive selection. Such selection was possibly a response to evolving interacting partners or to pathogen challenges. We also observed an almost complete lack of intracellular positively selected sites, suggesting a conserved signaling mechanism of the molecules. Therefore, the contrasting patterns of selection likely correlate with the interaction and signaling potential of the molecules.

  5. Characterization of the Avian Trojan Gene Family Reveals Contrasting Evolutionary Constraints

    PubMed Central

    Petrov, Petar; Syrjänen, Riikka; Smith, Jacqueline; Gutowska, Maria Weronika; Uchida, Tatsuya; Vainio, Olli; Burt, David W

    2015-01-01

    “Trojan” is a leukocyte-specific, cell surface protein originally identified in the chicken. Its molecular function has been hypothesized to be related to anti-apoptosis and the proliferation of immune cells. The Trojan gene has been localized onto the Z sex chromosome. The adjacent two genes also show significant homology to Trojan, suggesting the existence of a novel gene/protein family. Here, we characterize this Trojan family, identify homologues in other species and predict evolutionary constraints on these genes. The two Trojan-related proteins in chicken were predicted as a receptor-type tyrosine phosphatase and a transmembrane protein, bearing a cytoplasmic immuno-receptor tyrosine-based activation motif. We identified the Trojan gene family in ten other bird species and found related genes in three reptiles and a fish species. The phylogenetic analysis of the homologues revealed a gradual diversification among the family members. Evolutionary analyzes of the avian genes predicted that the extracellular regions of the proteins have been subjected to positive selection. Such selection was possibly a response to evolving interacting partners or to pathogen challenges. We also observed an almost complete lack of intracellular positively selected sites, suggesting a conserved signaling mechanism of the molecules. Therefore, the contrasting patterns of selection likely correlate with the interaction and signaling potential of the molecules. PMID:25803627

  6. Trends in genome dynamics among major orders of insects revealed through variations in protein families.

    PubMed

    Rappoport, Nadav; Linial, Michal

    2015-08-07

    Insects belong to a class that accounts for the majority of animals on earth. With over one million identified species, insects display a huge diversity and occupy extreme environments. At present, there are dozens of fully sequenced insect genomes that cover a range of habitats, social behavior and morphologies. In view of such diverse collection of genomes, revealing evolutionary trends and charting functional relationships of proteins remain challenging. We analyzed the relatedness of 17 complete proteomes representative of proteomes from insects including louse, bee, beetle, ants, flies and mosquitoes, as well as an out-group from the crustaceans. The analyzed proteomes mostly represented the orders of Hymenoptera and Diptera. The 287,405 protein sequences from the 18 proteomes were automatically clustered into 20,933 families, including 799 singletons. A comprehensive analysis based on statistical considerations identified the families that were significantly expanded or reduced in any of the studied organisms. Among all the tested species, ants are characterized by an exceptionally high rate of family gain and loss. By assigning annotations to hundreds of species-specific families, the functional diversity among species and between the major clades (Diptera and Hymenoptera) is revealed. We found that many species-specific families are associated with receptor signaling, stress-related functions and proteases. The highest variability among insects associates with the function of transposition and nucleic acids processes (collectively coined TNAP). Specifically, the wasp and ants have an order of magnitude more TNAP families and proteins relative to species that belong to Diptera (mosquitoes and flies). An unsupervised clustering methodology combined with a comparative functional analysis unveiled proteomic signatures in the major clades of winged insects. We propose that the expansion of TNAP families in Hymenoptera potentially contributes to the accelerated

  7. Characterization of the Bacterial Diversity in Indo-West Pacific Loliginid and Sepiolid Squid Light Organs

    PubMed Central

    Guerrero-Ferreira, Ricardo; Gorman, Clayton; Chavez, Alba A.; Willie, Shantell

    2013-01-01

    Loliginid and sepiolid squid light organs are known to host a variety of bacterial species from the family Vibrionaceae, yet little is known about the species diversity and characteristics among different host squids. Here we present a broad-ranging molecular and physiological analysis of the bacteria colonizing light organs in loliginid and sepiolid squids from various field locations of the Indo-West Pacific (Australia and Thailand). Our PCR-RFLP analysis, physiological characterization, carbon utilization profiling, and electron microscopy data indicate that loliginid squid in the Indo-West Pacific carry a consortium of bacterial species from the families Vibrionaceae and Photobacteriaceae. This research also confirms our previous report of the presence of Vibrio harveyi as a member of the bacterial population colonizing light organs in loliginid squid. pyrH sequence data were used to confirm isolate identity, and indicates that Vibrio and Photobacterium comprise most of the light organ colonizers of squids from Australia, confirming previous reports for Australian loliginid and sepiolid squids. In addition, combined phylogenetic analysis of PCR-RFLP and 16S rDNA data from Australian and Thai isolates associated both Photobacterium and Vibrio clades with both loliginid and sepiolid strains, providing support that geographical origin does not correlate with their relatedness. These results indicate that both loliginid and sepiolid squids demonstrate symbiont specificity (Vibrionaceae), but their distribution is more likely due to environmental factors that are present during the infection process. This study adds significantly to the growing evidence for complex and dynamic associations in nature and highlights the importance of exploring symbiotic relationships in which non-virulent strains of pathogenic Vibrio species could establish associations with marine invertebrates. PMID:22885637

  8. Chlorophyll a might structure a community of potentially pathogenic culturable Vibrionaceae. Insights from a one-year study of water and mussels surveyed on the French Atlantic coast.

    PubMed

    Deter, J; Lozach, S; Derrien, A; Véron, A; Chollet, J; Hervio-Heath, D

    2010-02-01

    The present study focused on the isolation of culturable bacteria from mussels and sea water to identify Vibrionaceae potentially pathogenic for humans. Three sites located on the French Atlantic coast were monitored monthly (twice each month during summer) for 1 year. Environmental parameters were surveyed (water temperature, salinity, turbidity, chlorophyll a) and bacteria were detected by culture and identified by API 20E(®) systems (BioMérieux) and PCR. A total of seven species were detected (Grimontia hollisae, Photobacterium damselae, Vibrio alginolyticus, V. cholerae, V. fluvialis, V. vulnificus and V. parahaemolyticus) and species diversity was higher at the end of summer. Surprisingly, V. cholerae non-O1/non-O139 was detected in spring. No site effect was detected. Using Sørensen similarity indices and statistical analyses, we showed that chlorophyll a had a significant influence on the bacterial community detected in mussels and assemblages were more similar to one another when chlorophyll a values were above 20 µg l(-1) . No significant effect of any parameter was found on the community detected in water samples. Such surveys are essential for the understanding of sanitary crises and detection of emerging pathogens. © 2010 Society for Applied Microbiology and Blackwell Publishing Ltd.

  9. Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome.

    PubMed

    Warejko, Jillian K; Schueler, Markus; Vivante, Asaf; Tan, Weizhen; Daga, Ankana; Lawson, Jennifer A; Braun, Daniela A; Shril, Shirlee; Amann, Kassaundra; Somers, Michael J G; Rodig, Nancy M; Baum, Michelle A; Daouk, Ghaleb; Traum, Avram Z; Kim, Heung Bae; Vakili, Khashayar; Porras, Diego; Lock, James; Rivkin, Michael J; Chaudry, Gulraiz; Smoot, Leslie B; Singh, Michael N; Smith, Edward R; Mane, Shrikant M; Lifton, Richard P; Stein, Deborah R; Ferguson, Michael A; Hildebrandt, Friedhelm

    2018-04-01

    Midaortic syndrome (MAS) is a rare cause of severe childhood hypertension characterized by narrowing of the abdominal aorta in children and is associated with extensive vascular disease. It may occur as part of a genetic syndrome, such as neurofibromatosis, or as consequence of a pathological inflammatory disease. However, most cases are considered idiopathic. We hypothesized that in a high percentage of these patients, a monogenic cause of disease may be detected by evaluating whole exome sequencing data for mutations in 1 of 38 candidate genes previously described to cause vasculopathy. We studied a cohort of 36 individuals from 35 different families with MAS by exome sequencing. In 15 of 35 families (42.9%), we detected likely causal dominant mutations. In 15 of 35 (42.9%) families with MAS, whole exome sequencing revealed a mutation in one of the genes previously associated with vascular disease ( NF1 , JAG1 , ELN , GATA6 , and RNF213 ). Ten of the 15 mutations have not previously been reported. This is the first report of ELN , RNF213 , or GATA6 mutations in individuals with MAS. Mutations were detected in NF1 (6/15 families), JAG1 (4/15 families), ELN (3/15 families), and one family each for GATA6 and RNF213 Eight individuals had syndromic disease and 7 individuals had isolated MAS. Whole exome sequencing can provide conclusive molecular genetic diagnosis in a high fraction of individuals with syndromic or isolated MAS. Establishing an etiologic diagnosis may reveal genotype/phenotype correlations for MAS in the future and should, therefore, be performed routinely in MAS. © 2018 American Heart Association, Inc.

  10. Culturable microbiota of ranched southern bluefin tuna (Thunnus maccoyii Castelnau).

    PubMed

    Valdenegro-Vega, V; Naeem, S; Carson, J; Bowman, J P; Tejedor del Real, J L; Nowak, B

    2013-10-01

    The Australian tuna industry is based on the ranching of wild southern bluefin tuna (SBT, Thunnus maccoyii). Within this industry, only opportunistic pathogens have been reported infecting external wounds of fish. This study aimed to identify different culturable bacteria present in three cohorts of SBT and to determine normal bacteria and potential pathogens in isolates from harvest fish and moribund/dead fish. Post-mortem changes in the microbiota were also studied. Moribund/dead showed a greater proportion of members from the family Vibrionaceae than harvested fish; the latter presented mainly non-Vibrio species. In harvested fish spleens, Vibrio splendidus I complex was the most commonly identified group among Vibrio isolates, while most groups from the family Vibrionaceae were isolated from gills. For moribund/dead, Vibrio chagasii and Photobacterium damselae subsp. damselae were common in gill, spleen and kidney samples. Non-Vibrio isolates from gills were characterized using 16S rRNA sequencing as Flavobacteriaceae and classes Gammaproteobacteria and Alphaproteobacteria, mainly from the genera Winogradskyella and Tenacibaculum. Post-mortem changes showed dynamic shifts in bacterial dominance in gills, with Vibrionaceae and non-Vibrio spp. found in similar proportions initially and types related to Pseudoalteromonas ruthenica prevailing after 27 h. Spleen samples showed little bacterial growth until 5 h post-mortem, while various Vibrio-associated species were isolated 27 h post-mortem. Bacterial isolates found include a range of potentially pathogenic bacteria that should be monitored though most of them have yet to be associated with disease in tuna. This study forms a foundation for future research into the bacterial population dynamics under different culture conditions of SBT. An understanding of the bacterial compositions in SBT is necessary to evaluate the effects of some bacterial species on their health. © 2013 The Society for Applied

  11. Chicken genome analysis reveals novel genes encoding biotin-binding proteins related to avidin family

    PubMed Central

    Niskanen, Einari A; Hytönen, Vesa P; Grapputo, Alessandro; Nordlund, Henri R; Kulomaa, Markku S; Laitinen, Olli H

    2005-01-01

    Background A chicken egg contains several biotin-binding proteins (BBPs), whose complete DNA and amino acid sequences are not known. In order to identify and characterise these genes and proteins we studied chicken cDNAs and genes available in the NCBI database and chicken genome database using the reported N-terminal amino acid sequences of chicken egg-yolk BBPs as search strings. Results Two separate hits showing significant homology for these N-terminal sequences were discovered. For one of these hits, the chromosomal location in the immediate proximity of the avidin gene family was found. Both of these hits encode proteins having high sequence similarity with avidin suggesting that chicken BBPs are paralogous to avidin family. In particular, almost all residues corresponding to biotin binding in avidin are conserved in these putative BBP proteins. One of the found DNA sequences, however, seems to encode a carboxy-terminal extension not present in avidin. Conclusion We describe here the predicted properties of the putative BBP genes and proteins. Our present observations link BBP genes together with avidin gene family and shed more light on the genetic arrangement and variability of this family. In addition, comparative modelling revealed the potential structural elements important for the functional and structural properties of the putative BBP proteins. PMID:15777476

  12. Comparative proteomics reveals recruitment patterns of some protein families in the venoms of Cnidaria.

    PubMed

    Jaimes-Becerra, Adrian; Chung, Ray; Morandini, André C; Weston, Andrew J; Padilla, Gabriel; Gacesa, Ranko; Ward, Malcolm; Long, Paul F; Marques, Antonio C

    2017-10-01

    Cnidarians are probably the oldest group of animals to be venomous, yet our current picture of cnidarian venom evolution is highly imbalanced due to limited taxon sampling. High-throughput tandem mass spectrometry was used to determine venom composition of the scyphozoan Chrysaora lactea and two cubozoans Tamoya haplonema and Chiropsalmus quadrumanus. Protein recruitment patterns were then compared against 5 other cnidarian venom proteomes taken from the literature. A total of 28 putative toxin protein families were identified, many for the first time in Cnidaria. Character mapping analysis revealed that 17 toxin protein families with predominantly cytolytic biological activities were likely recruited into the cnidarian venom proteome before the lineage split between Anthozoa and Medusozoa. Thereafter, venoms of Medusozoa and Anthozoa differed during subsequent divergence of cnidarian classes. Recruitment and loss of toxin protein families did not correlate with accepted phylogenetic patterns of Cnidaria. Selective pressures that drive toxin diversification independent of taxonomic positioning have yet to be identified in Cnidaria and now warrant experimental consideration. Copyright © 2017 Elsevier Ltd. All rights reserved.

  13. Comparative and evolutionary analysis of the HES/HEY gene family reveal exon/intron loss and teleost specific duplication events.

    PubMed

    Zhou, Mi; Yan, Jun; Ma, Zhaowu; Zhou, Yang; Abbood, Nibras Najm; Liu, Jianfeng; Su, Li; Jia, Haibo; Guo, An-Yuan

    2012-01-01

    HES/HEY genes encode a family of basic helix-loop-helix (bHLH) transcription factors with both bHLH and Orange domain. HES/HEY proteins are direct targets of the Notch signaling pathway and play an essential role in developmental decisions, such as the developments of nervous system, somitogenesis, blood vessel and heart. Despite their important functions, the origin and evolution of this HES/HEY gene family has yet to be elucidated. In this study, we identified genes of the HES/HEY family in representative species and performed evolutionary analysis to elucidate their origin and evolutionary process. Our results showed that the HES/HEY genes only existed in metazoans and may originate from the common ancestor of metazoans. We identified HES/HEY genes in more than 10 species representing the main lineages. Combining the bHLH and Orange domain sequences, we constructed the phylogenetic trees by different methods (Bayesian, ML, NJ and ME) and classified the HES/HEY gene family into four groups. Our results indicated that this gene family had undergone three expansions, which were along with the origins of Eumetazoa, vertebrate, and teleost. Gene structure analysis revealed that the HES/HEY genes were involved in exon and/or intron loss in different species lineages. Genes of this family were duplicated in bony fishes and doubled than other vertebrates. Furthermore, we studied the teleost-specific duplications in zebrafish and investigated the expression pattern of duplicated genes in different tissues by RT-PCR. Finally, we proposed a model to show the evolution of this gene family with processes of expansion, exon/intron loss, and motif loss. Our study revealed the evolution of HES/HEY gene family, the expression and function divergence of duplicated genes, which also provide clues for the research of Notch function in development. This study shows a model of gene family analysis with gene structure evolution and duplication.

  14. Family level phylogenies reveal modes of macroevolution in RNA viruses.

    PubMed

    Kitchen, Andrew; Shackelton, Laura A; Holmes, Edward C

    2011-01-04

    Despite advances in understanding the patterns and processes of microevolution in RNA viruses, little is known about the determinants of viral diversification at the macroevolutionary scale. In particular, the processes by which viral lineages assigned as different "species" are generated remain largely uncharacterized. To address this issue, we use a robust phylogenetic approach to analyze patterns of lineage diversification in five representative families of RNA viruses. We ask whether the process of lineage diversification primarily occurs when viruses infect new host species, either through cross-species transmission or codivergence, and which are defined here as analogous to allopatric speciation in animals, or by acquiring new niches within the same host species, analogous to sympatric speciation. By mapping probable primary host species onto family level viral phylogenies, we reveal a strong clustering among viral lineages that infect groups of closely related host species. Although this is consistent with lineage diversification within individual hosts, we argue that this pattern more likely represents strong biases in our knowledge of viral biodiversity, because we also find that better-sampled human viruses rarely cluster together. Hence, although closely related viruses tend to infect related host species, it is unlikely that they often infect the same host species, such that evolutionary constraints hinder lineage diversification within individual host species. We conclude that the colonization of new but related host species may represent the principle mode of macroevolution in RNA viruses.

  15. Genome-Wide Survey and Expression Profiling of CCCH-Zinc Finger Family Reveals a Functional Module in Macrophage Activation

    PubMed Central

    Liang, Jian; Song, Wenjun; Tromp, Gail; Kolattukudy, Pappachan E.; Fu, Mingui

    2008-01-01

    Previously, we have identified a novel CCCH zinc finger protein family as negative regulators of macrophage activation. To gain an overall insight into the entire CCCH zinc finger gene family and to evaluate their potential role in macrophage activation, here we performed a genome-wide survey of CCCH zinc finger genes in mouse and human. Totally 58 CCCH zinc finger genes in mouse and 55 in human were identified and most of them have not been reported previously. Phylogenetic analysis revealed that the mouse CCCH family was divided into 6 groups. Meanwhile, we employed quantitative real-time PCR to profile their tissue expression patterns in adult mice. Clustering analysis showed that most of CCCH genes were broadly expressed in all of tissues examined with various levels. Interestingly, several CCCH genes Mbnl3, Zfp36l2, Zfp36, Zc3h12a, Zc3h12d, Zc3h7a and Leng9 were enriched in macrophage-related organs such as thymus, spleen, lung, intestine and adipose. Consistently, a comprehensive assessment of changes in expression of the 58 members of the mouse CCCH family during macrophage activation also revealed that these CCCH zinc finger genes were associated with the activation of bone marrow-derived macrophages by lipopolysaccharide. Taken together, this study not only identified a functional module of CCCH zinc finger genes in the regulation of macrophage activation but also provided the framework for future studies to dissect the function of this emerging gene family. PMID:18682727

  16. Bioinformatic analysis of the neprilysin (M13) family of peptidases reveals complex evolutionary and functional relationships.

    PubMed

    Bland, Nicholas D; Pinney, John W; Thomas, Josie E; Turner, Anthony J; Isaac, R Elwyn

    2008-01-23

    The neprilysin (M13) family of endopeptidases are zinc-metalloenzymes, the majority of which are type II integral membrane proteins. The best characterised of this family is neprilysin, which has important roles in inactivating signalling peptides involved in modulating neuronal activity, blood pressure and the immune system. Other family members include the endothelin converting enzymes (ECE-1 and ECE-2), which are responsible for the final step in the synthesis of potent vasoconstrictor endothelins. The ECEs, as well as neprilysin, are considered valuable therapeutic targets for treating cardiovascular disease. Other members of the M13 family have not been functionally characterised, but are also likely to have biological roles regulating peptide signalling. The recent sequencing of animal genomes has greatly increased the number of M13 family members in protein databases, information which can be used to reveal evolutionary relationships and to gain insight into conserved biological roles. The phylogenetic analysis successfully resolved vertebrate M13 peptidases into seven classes, one of which appears to be specific to mammals, and insect genes into five functional classes and a series of expansions, which may include inactive peptidases. Nematode genes primarily resolved into groups containing no other taxa, bar the two nematode genes associated with Drosophila DmeNEP1 and DmeNEP4. This analysis reconstructed only one relationship between chordate and invertebrate clusters, that of the ECE sub-group and the DmeNEP3 related genes. Analysis of amino acid utilisation in the active site of M13 peptidases reveals a basis for their biochemical properties. A relatively invariant S1' subsite gives the majority of M13 peptidases their strong preference for hydrophobic residues in P1' position. The greater variation in the S2' subsite may be instrumental in determining the specificity of M13 peptidases for their substrates and thus allows M13 peptidases to fulfil a

  17. Bioinformatic analysis of the neprilysin (M13) family of peptidases reveals complex evolutionary and functional relationships

    PubMed Central

    2008-01-01

    Background The neprilysin (M13) family of endopeptidases are zinc-metalloenzymes, the majority of which are type II integral membrane proteins. The best characterised of this family is neprilysin, which has important roles in inactivating signalling peptides involved in modulating neuronal activity, blood pressure and the immune system. Other family members include the endothelin converting enzymes (ECE-1 and ECE-2), which are responsible for the final step in the synthesis of potent vasoconstrictor endothelins. The ECEs, as well as neprilysin, are considered valuable therapeutic targets for treating cardiovascular disease. Other members of the M13 family have not been functionally characterised, but are also likely to have biological roles regulating peptide signalling. The recent sequencing of animal genomes has greatly increased the number of M13 family members in protein databases, information which can be used to reveal evolutionary relationships and to gain insight into conserved biological roles. Results The phylogenetic analysis successfully resolved vertebrate M13 peptidases into seven classes, one of which appears to be specific to mammals, and insect genes into five functional classes and a series of expansions, which may include inactive peptidases. Nematode genes primarily resolved into groups containing no other taxa, bar the two nematode genes associated with Drosophila DmeNEP1 and DmeNEP4. This analysis reconstructed only one relationship between chordate and invertebrate clusters, that of the ECE sub-group and the DmeNEP3 related genes. Analysis of amino acid utilisation in the active site of M13 peptidases reveals a basis for their biochemical properties. A relatively invariant S1' subsite gives the majority of M13 peptidases their strong preference for hydrophobic residues in P1' position. The greater variation in the S2' subsite may be instrumental in determining the specificity of M13 peptidases for their substrates and thus allows M13

  18. Comparative and Evolutionary Analysis of the HES/HEY Gene Family Reveal Exon/Intron Loss and Teleost Specific Duplication Events

    PubMed Central

    Ma, Zhaowu; Zhou, Yang; Abbood, Nibras Najm; Liu, Jianfeng; Su, Li; Jia, Haibo; Guo, An-Yuan

    2012-01-01

    Background HES/HEY genes encode a family of basic helix-loop-helix (bHLH) transcription factors with both bHLH and Orange domain. HES/HEY proteins are direct targets of the Notch signaling pathway and play an essential role in developmental decisions, such as the developments of nervous system, somitogenesis, blood vessel and heart. Despite their important functions, the origin and evolution of this HES/HEY gene family has yet to be elucidated. Methods and Findings In this study, we identified genes of the HES/HEY family in representative species and performed evolutionary analysis to elucidate their origin and evolutionary process. Our results showed that the HES/HEY genes only existed in metazoans and may originate from the common ancestor of metazoans. We identified HES/HEY genes in more than 10 species representing the main lineages. Combining the bHLH and Orange domain sequences, we constructed the phylogenetic trees by different methods (Bayesian, ML, NJ and ME) and classified the HES/HEY gene family into four groups. Our results indicated that this gene family had undergone three expansions, which were along with the origins of Eumetazoa, vertebrate, and teleost. Gene structure analysis revealed that the HES/HEY genes were involved in exon and/or intron loss in different species lineages. Genes of this family were duplicated in bony fishes and doubled than other vertebrates. Furthermore, we studied the teleost-specific duplications in zebrafish and investigated the expression pattern of duplicated genes in different tissues by RT-PCR. Finally, we proposed a model to show the evolution of this gene family with processes of expansion, exon/intron loss, and motif loss. Conclusions Our study revealed the evolution of HES/HEY gene family, the expression and function divergence of duplicated genes, which also provide clues for the research of Notch function in development. This study shows a model of gene family analysis with gene structure evolution and

  19. Family Structure and Family Processes in Mexican American Families

    PubMed Central

    Zeiders, Katharine H.; Roosa, Mark W.; Tein, Jenn-Yun

    2010-01-01

    Despite increases in single-parent families among Mexican Americans (MA), few studies have examined the association of family structure and family adjustment. Utilizing a diverse sample of 738 Mexican American families (21.7% single parent), the current study examined differences across family structure on early adolescent outcomes, family functioning, and parent-child relationship variables. Results revealed that early adolescents in single parent families reported greater school misconduct, CD/ODD and MDD symptoms, and greater parent-child conflict than their counterparts in two parent families. Single parent mothers reported greater economic hardship, depression and family stress. Family stress and parent-child conflict emerged as significant mediators of the association between family structure and early adolescent outcomes, suggesting important processes linking MA single parent families and adolescent adjustment. PMID:21361925

  20. Genetic analysis of Chinese families reveals a novel truncation allele of the retinitis pigmentosa GTPase regulator gene

    PubMed Central

    Hu, Fang; Zeng, Xiang-Yun; Liu, Lin-Lin; Luo, Yao-Ling; Jiang, Yi-Ping; Wang, Hui; Xie, Jing; Hu, Cheng-Quan; Gan, Lin; Huang, Liang

    2014-01-01

    AIM To make comprehensive molecular diagnosis for retinitis pigmentosa (RP) patients in a consanguineous Han Chinese family using next generation sequencing based Capture-NGS screen technology. METHODS A five-generation Han Chinese family diagnosed as non-syndromic X-linked recessive RP (XLRP) was recruited, including four affected males, four obligate female carriers and eleven unaffected family members. Capture-NGS was performed using a custom designed capture panel covers 163 known retinal disease genes including 47 RP genes, followed by the validation of detected mutation using Sanger sequencing in all recruited family members. RESULTS Capture-NGS in one affected 47-year-old male reveals a novel mutation, c.2417_2418insG:p.E806fs, in exon ORF15 of RP GTPase regulator (RPGR) gene results in a frameshift change that results in a premature stop codon and a truncated protein product. The mutation was further validated in three of four affected males and two of four female carriers but not in the other unaffected family members. CONCLUSION We have identified a novel mutation, c.2417_2418insG:p.E806fs, in a Han Chinese family with XLRP. Our findings expand the mutation spectrum of RPGR and the phenotypic spectrum of XLRP in Han Chinese families, and confirms Capture-NGS could be an effective and economic approach for the comprehensive molecular diagnosis of RP. PMID:25349787

  1. Acetone Formation in the Vibrio Family: a New Pathway for Bacterial Leucine Catabolism

    PubMed Central

    Nemecek-Marshall, Michele; Wojciechowski, Cheryl; Wagner, William P.; Fall, Ray

    1999-01-01

    There is current interest in biological sources of acetone, a volatile organic compound that impacts atmospheric chemistry. Here, we determined that leucine-dependent acetone formation is widespread in the Vibrionaceae. Sixteen Vibrio isolates, two Listonella species, and two Photobacterium angustum isolates produced acetone in the presence of l-leucine. Shewanella isolates produced much less acetone. Growth of Vibrio splendidus and P. angustum in a fermentor with controlled aeration revealed that acetone was produced after a lag in late logarithmic or stationary phase of growth, depending on the medium, and was not derived from acetoacetate by nonenzymatic decarboxylation in the medium. l-Leucine, but not d-leucine, was converted to acetone with a stoichiometry of approximately 0.61 mol of acetone per mol of l-leucine. Testing various potential leucine catabolites as precursors of acetone showed that only α-ketoisocaproate was efficiently converted by whole cells to acetone. Acetone production was blocked by a nitrogen atmosphere but not by electron transport inhibitors, suggesting that an oxygen-dependent reaction is required for leucine catabolism. Metabolic labeling with deuterated (isopropyl-d7)-l-leucine revealed that the isopropyl carbons give rise to acetone with full retention of deuterium in each methyl group. These results suggest the operation of a new catabolic pathway for leucine in vibrios that is distinct from the 3-hydroxy-3-methylglutaryl-coenzyme A pathway seen in pseudomonads. PMID:10601206

  2. Who's on base? Revealing the catalytic mechanism of inverting family 6 glycoside hydrolases

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Mayes, Heather B.; Knott, Brandon C.; Crowley, Michael F.

    In several important classes of inverting carbohydrate-active enzymes, the identity of the catalytic base remains elusive, including in family 6 Glycoside Hydrolase (GH6) enzymes, which are key components of cellulase cocktails for cellulose depolymerization. Despite many structural and kinetic studies with both wild-type and mutant enzymes, especially on the Trichoderma reesei (Hypocrea jecorina) GH6 cellulase ( TrCel6A), the catalytic base in the single displacement inverting mechanism has not been definitively identified in the GH6 family. Here, we employ transition path sampling to gain insight into the catalytic mechanism, which provides unbiased atomic-level understanding of key order parameters involved in cleavingmore » the strong glycosidic bond. Our hybrid quantum mechanics and molecular mechanics (QM/MM) simulations reveal a network of hydrogen bonding that aligns two active site water molecules that play key roles in hydrolysis: one water molecule drives the reaction by nucleophilic attack on the substrate and a second shuttles a proton to the putative base (D175) via a short water wire. We also investigated the case where the putative base is mutated to an alanine, an enzyme that is experimentally still partially active. The simulations predict that proton hopping along a water wire via a Grotthuss mechanism provides a mechanism of catalytic rescue. Further simulations reveal that substrate processive motion is 'driven' by strong electrostatic interactions with the protein at the product sites and that the -1 sugar adopts a 2S O ring configuration as it reaches its binding site. Lastly, this work thus elucidates previously elusive steps in the processive catalytic mechanism of this important class of enzymes.« less

  3. Who's on base? Revealing the catalytic mechanism of inverting family 6 glycoside hydrolases

    DOE PAGES

    Mayes, Heather B.; Knott, Brandon C.; Crowley, Michael F.; ...

    2016-06-01

    In several important classes of inverting carbohydrate-active enzymes, the identity of the catalytic base remains elusive, including in family 6 Glycoside Hydrolase (GH6) enzymes, which are key components of cellulase cocktails for cellulose depolymerization. Despite many structural and kinetic studies with both wild-type and mutant enzymes, especially on the Trichoderma reesei (Hypocrea jecorina) GH6 cellulase ( TrCel6A), the catalytic base in the single displacement inverting mechanism has not been definitively identified in the GH6 family. Here, we employ transition path sampling to gain insight into the catalytic mechanism, which provides unbiased atomic-level understanding of key order parameters involved in cleavingmore » the strong glycosidic bond. Our hybrid quantum mechanics and molecular mechanics (QM/MM) simulations reveal a network of hydrogen bonding that aligns two active site water molecules that play key roles in hydrolysis: one water molecule drives the reaction by nucleophilic attack on the substrate and a second shuttles a proton to the putative base (D175) via a short water wire. We also investigated the case where the putative base is mutated to an alanine, an enzyme that is experimentally still partially active. The simulations predict that proton hopping along a water wire via a Grotthuss mechanism provides a mechanism of catalytic rescue. Further simulations reveal that substrate processive motion is 'driven' by strong electrostatic interactions with the protein at the product sites and that the -1 sugar adopts a 2S O ring configuration as it reaches its binding site. Lastly, this work thus elucidates previously elusive steps in the processive catalytic mechanism of this important class of enzymes.« less

  4. Expression profiling reveals Spot 42 small RNA as a key regulator in the central metabolism of Aliivibrio salmonicida

    PubMed Central

    2012-01-01

    Background Spot 42 was discovered in Escherichia coli nearly 40 years ago as an abundant, small and unstable RNA. Its biological role has remained obscure until recently, and is today implicated in having broader roles in the central and secondary metabolism. Spot 42 is encoded by the spf gene. The gene is ubiquitous in the Vibrionaceae family of gamma-proteobacteria. One member of this family, Aliivibrio salmonicida, causes cold-water vibriosis in farmed Atlantic salmon. Its genome encodes Spot 42 with 84% identity to E. coli Spot 42. Results We generated a A. salmonicida spf deletion mutant. We then used microarray and Northern blot analyses to monitor global effects on the transcriptome in order to provide insights into the biological roles of Spot 42 in this bacterium. In the presence of glucose, we found a surprisingly large number of ≥ 2X differentially expressed genes, and several major cellular processes were affected. A gene encoding a pirin-like protein showed an on/off expression pattern in the presence/absence of Spot 42, which suggests that Spot 42 plays a key regulatory role in the central metabolism by regulating the switch between fermentation and respiration. Interestingly, we discovered an sRNA named VSsrna24, which is encoded immediately downstream of spf. This new sRNA has an expression pattern opposite to that of Spot 42, and its expression is repressed by glucose. Conclusions We hypothesize that Spot 42 plays a key role in the central metabolism, in part by regulating the pyruvat dehydrogenase enzyme complex via pirin. PMID:22272603

  5. Getting a High-Speed Family Connection: Associations between Family Media Use and Family Connection

    ERIC Educational Resources Information Center

    Padilla-Walker, Laura M.; Coyne, Sarah M.; Fraser, Ashley M.

    2012-01-01

    The way families have used the media has substantially changed over the past decade. Within the framework of family systems theory, this paper examines the relations between family media use and family connection in a sample of 453 adolescents (mean age of child = 14.32 years, SD = 0.98, 52% female) and their parents. Results revealed that cell…

  6. Coral microbial community dynamics in response to anthropogenic impacts near a major city in the central Red Sea.

    PubMed

    Ziegler, Maren; Roik, Anna; Porter, Adam; Zubier, Khalid; Mudarris, Mohammed S; Ormond, Rupert; Voolstra, Christian R

    2016-04-30

    Coral-associated bacteria play an increasingly recognized part in coral health. We investigated the effect of local anthropogenic impacts on coral microbial communities on reefs near Jeddah, the largest city on the Saudi Arabian coast of the central Red Sea. We analyzed the bacterial community structure of water and corals (Pocillopora verrucosa and Acropora hemprichii) at sites that were relatively unimpacted, exposed to sedimentation & local sewage, or in the discharge area of municipal wastewaters. Coral microbial communities were significantly different at impacted sites: in both corals the main symbiotic taxon decreased in abundance. In contrast, opportunistic bacterial families, such as e.g. Vibrionaceae and Rhodobacteraceae, were more abundant in corals at impacted sites. In conclusion, microbial community response revealed a measurable footprint of anthropogenic impacts to coral ecosystems close to Jeddah, even though the corals appeared visually healthy. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

  7. Phylogenomic analyses reveal novel relationships among snake families.

    PubMed

    Streicher, Jeffrey W; Wiens, John J

    2016-07-01

    Snakes are a diverse and important group of vertebrates. However, relationships among the major groups of snakes have remained highly uncertain, with recent studies hypothesizing very different (and typically weakly supported) relationships. Here, we address family-level snake relationships with new phylogenomic data from 3776 nuclear loci from ultraconserved elements (1.40million aligned base pairs, 52% missing data overall) sampled from 29 snake species that together represent almost all families, a dataset ∼100 times larger than used in previous studies. We found relatively strong support from species-tree analyses (NJst) for most relationships, including three largely novel clades: (1) a clade uniting the boas, pythons and their relatives, (2) a clade placing cylindrophiids and uropeltids with this clade, and (3) a clade uniting bolyeriids (Round Island boas) with pythonids and their relatives (xenopeltids and loxocemids). Relationships among families of advanced snakes (caenophidians) were also strongly supported. The results show the potential for phylogenomic analyses to resolve difficult groups, but also show a surprising sensitivity of the analyses to the inclusion or exclusion of outgroups. Copyright © 2016 Elsevier Inc. All rights reserved.

  8. Structure–function characterization reveals new catalytic diversity in the galactose oxidase and glyoxal oxidase family

    PubMed Central

    Yin, DeLu (Tyler); Urresti, Saioa; Lafond, Mickael; Johnston, Esther M.; Derikvand, Fatemeh; Ciano, Luisa; Berrin, Jean-Guy; Henrissat, Bernard; Walton, Paul H.; Davies, Gideon J.; Brumer, Harry

    2015-01-01

    Alcohol oxidases, including carbohydrate oxidases, have a long history of research that has generated fundamental biological understanding and biotechnological applications. Despite a long history of study, the galactose 6-oxidase/glyoxal oxidase family of mononuclear copper-radical oxidases, Auxiliary Activity Family 5 (AA5), is currently represented by only very few characterized members. Here we report the recombinant production and detailed structure–function analyses of two homologues from the phytopathogenic fungi Colletotrichum graminicola and C. gloeosporioides, CgrAlcOx and CglAlcOx, respectively, to explore the wider biocatalytic potential in AA5. EPR spectroscopy and crystallographic analysis confirm a common active-site structure vis-à-vis the archetypal galactose 6-oxidase from Fusarium graminearum. Strikingly, however, CgrAlcOx and CglAlcOx are essentially incapable of oxidizing galactose and galactosides, but instead efficiently catalyse the oxidation of diverse aliphatic alcohols. The results highlight the significant potential of prospecting the evolutionary diversity of AA5 to reveal novel enzyme specificities, thereby informing both biology and applications. PMID:26680532

  9. The Barley Genome Sequence Assembly Reveals Three Additional Members of the CslF (1,3;1,4)-β-Glucan Synthase Gene Family

    PubMed Central

    Schreiber, Miriam; Wright, Frank; MacKenzie, Katrin; Hedley, Pete E.; Schwerdt, Julian G.; Little, Alan; Burton, Rachel A.; Fincher, Geoffrey B.; Marshall, David; Waugh, Robbie; Halpin, Claire

    2014-01-01

    An important component of barley cell walls, particularly in the endosperm, is (1,3;1,4)-β- glucan, a polymer that has proven health benefits in humans and that influences processability in the brewing industry. Genes of the cellulose synthase-like (Csl) F gene family have been shown to be involved in (1,3;1,4)-β-glucan synthesis but many aspects of the biosynthesis are still unclear. Examination of the sequence assembly of the barley genome has revealed the presence of an additional three HvCslF genes (HvCslF11, HvCslF12 and HvCslF13) which may be involved in (1,3;1,4)-β-glucan synthesis. Transcripts of HvCslF11 and HvCslF12 mRNA were found in roots and young leaves, respectively. Transient expression of these genes in Nicotiana benthamiana resulted in phenotypic changes in the infiltrated leaves, although no authentic (1,3;1,4)-β-glucan was detected. Comparisons of the CslF gene families in cereals revealed evidence of intergenic recombination, gene duplications and translocation events. This significant divergence within the gene family might be related to multiple functions of (1,3;1,4)-β-glucans in the Poaceae. Emerging genomic and global expression data for barley and other cereals is a powerful resource for characterising the evolution and dynamics of complete gene families. In the case of the CslF gene family, the results will contribute to a more thorough understanding of carbohydrate metabolism in grass cell walls. PMID:24595438

  10. Family functioning in lesbian families created by donor insemination.

    PubMed

    Vanfraussen, Katrien; Ponjaert-Kristoffersen, Ingrid; Brewaeys, Anne

    2003-01-01

    The quantitative and qualitative data of this study on family functioning in lesbian donor insemination families reveal that according to both parents and children, the quality of children's relationship with the social mother is comparable to that with the biological mother. Unlike fathers in heterosexual families, the lesbian social mother is as much involved in child activities as is the biological mother. Furthermore, the lesbian social mother has as much authority as does the father in heterosexual families.

  11. Family Matters: An Investigation of Family Coursework in School Counseling Programs

    ERIC Educational Resources Information Center

    Joe, J. Richelle; Harris, Pamela N.

    2016-01-01

    School counselors are expected to form collaborative relationships with the families of students. Yet, school counselors have limited knowledge about families to form these partnerships, as a descriptive content analysis of the family coursework requirements in CACREP-accredited school counseling programs in the southern region revealed that most…

  12. Genome-wide analysis of the Dof transcription factor gene family reveals soybean-specific duplicable and functional characteristics.

    PubMed

    Guo, Yong; Qiu, Li-Juan

    2013-01-01

    The Dof domain protein family is a classic plant-specific zinc-finger transcription factor family involved in a variety of biological processes. There is great diversity in the number of Dof genes in different plants. However, there are only very limited reports on the characterization of Dof transcription factors in soybean (Glycine max). In the present study, 78 putative Dof genes were identified from the whole-genome sequence of soybean. The predicted GmDof genes were non-randomly distributed within and across 19 out of 20 chromosomes and 97.4% (38 pairs) were preferentially retained duplicate paralogous genes located in duplicated regions of the genome. Soybean-specific segmental duplications contributed significantly to the expansion of the soybean Dof gene family. These Dof proteins were phylogenetically clustered into nine distinct subgroups among which the gene structure and motif compositions were considerably conserved. Comparative phylogenetic analysis of these Dof proteins revealed four major groups, similar to those reported for Arabidopsis and rice. Most of the GmDofs showed specific expression patterns based on RNA-seq data analyses. The expression patterns of some duplicate genes were partially redundant while others showed functional diversity, suggesting the occurrence of sub-functionalization during subsequent evolution. Comprehensive expression profile analysis also provided insights into the soybean-specific functional divergence among members of the Dof gene family. Cis-regulatory element analysis of these GmDof genes suggested diverse functions associated with different processes. Taken together, our results provide useful information for the functional characterization of soybean Dof genes by combining phylogenetic analysis with global gene-expression profiling.

  13. Vitamin E analyses in seeds reveal a dominant presence of tocotrienols over tocopherols in the Arecaceae family.

    PubMed

    Siles, Laura; Cela, Jana; Munné-Bosch, Sergi

    2013-11-01

    Tocopherols are thought to prevent oxidative damage during seed quiescence and dormancy in all angiosperms. However, several monocot species accumulate tocotrienols in seeds and their role remains elusive. Here, we aimed to unravel the distribution of tocopherols and tocotrienols in seeds of the Arecaceae family, to examine possible trends of vitamin E accumulation within different clades of the same family. We examined the tocopherol and tocotrienol content in seeds of 84 species. Furthermore, we evaluated the vitamin E composition of the seed coat, endosperm and embryo of seeds from 6 species, to determine possible tissue-specific functions of particular vitamin E forms. While seeds of 98.8% (83 out of 84) of the species accumulated tocotrienols, only 58.3% (49 out of 84) accumulated tocopherols. The presence of tocopherols did not follow a clear evolutionary trend, and appeared randomly in some clades only. In addition, the tissue-specific location of vitamin E in seeds revealed that the embryo contains mostly α-tocopherol (in seed tocopherol-accumulating species) or α-tocotrienol (in seed tocopherol-deficient species). However, some species such as Socratea exorrhiza mostly accumulate β-tocotrienol, and Parajubaea torallyi accumulates a mixture of tocopherols and tocotrienols in the embryo. This suggests that tocotrienols can play a similar protective role to that exerted by tocopherols in seeds, at least in some species of the Arecaceae family. We conclude that tocotrienol, rather than tocopherol, accumulation is a conserved trait in seeds of the Arecaceae family. Copyright © 2013 Elsevier Ltd. All rights reserved.

  14. "Not a Real Family": Microaggressions Directed toward LGBTQ Families.

    PubMed

    Haines, Kari M; Boyer, C Reyn; Giovanazzi, Casey; Galupo, M Paz

    2018-01-01

    The present study investigates microaggressions toward individuals in lesbian, gay, bisexual, transgender, and queer (LGBTQ) families. Microaggressions are subtle forms of discrimination experienced on a daily basis as verbal or behavioral slights against individuals in oppressed groups. LGBTQ microaggressions are often studied at an individual level and understood as being directed toward an individual based on perceived identity. The present study allows for an understanding of bias directed at the family system level. Participants included 46 adults who identified as being part of an LGBTQ family. Participants completed an online questionnaire and described their experiences of LGBTQ family microaggressions. Thematic analysis revealed that LGBTQ family microaggressions were salient to individuals across multiple family roles. Three specific themes emerged: family legitimacy, conflicts with family values, and gender violation within family. These findings highlight the way LGBTQ microaggressions are influenced by cultural notions of family and impact the family system.

  15. Vibrios and Aeromonas.

    PubMed

    Holmberg, S D

    1988-09-01

    from them are responsive--to tetracycline, trimethoprim-sulfamethoxazole, and other common antimicrobial agents. However, as for other bacteria that cause diarrhea, the main treatment for uncomplicated disease is the judicious replacement of fluids and electrolytes lost in diarrhea. A loose network of surveilance for these organisms comprises hospital and public health laboratories in Gulf coastal states that plate diarrheal stools on TCBS agar. As recognized pathogens are more assiduously screened for, and as newly identified vibrios are definitely included or excluded as enteric pathogens, the clinical importance of these members of the Vibrionaceae family should become clearer.

  16. Pyrosequencing-based characterization of gastrointestinal bacteria of Atlantic salmon (Salmo salar L.) within a commercial mariculture system.

    PubMed

    Zarkasi, K Z; Abell, G C J; Taylor, R S; Neuman, C; Hatje, E; Tamplin, M L; Katouli, M; Bowman, J P

    2014-07-01

    The relationship of Atlantic salmon gastrointestinal (GI) tract bacteria to environmental factors, in particular water temperature within a commercial mariculture system, was investigated. Salmon GI tract bacterial communities commercially farmed in south-eastern Tasmania were analysed, over a 13-month period across a standard commercial production farm cycle, using 454 16S rRNA-based pyrosequencing. Faecal bacterial communities were highly dynamic but largely similar between randomly selected fish. In postsmolt, the faecal bacteria population was dominated by Gram-positive fermentative bacteria; however, by midsummer, members of the family Vibrionaceae predominated. As fish progressed towards harvest, a range of different bacterial genera became more prominent corresponding to a decline in Vibrionaceae. The sampled fish were fed two different commercial diet series with slightly different protein, lipid and digestible energy level; however, the effect of these differences was minimal. The overall data demonstrated dynamic hind gut communities in salmon that were related to season and fish growth phases but were less influenced by differences in commercial diets used routinely within the farm system studied. This study provides understanding of farmed salmon GI bacterial communities and describes the relative impact of diet, environmental and farm factors. © 2014 The Society for Applied Microbiology.

  17. Concordance Between Patient and Family Reports of Family Functioning in Bipolar I Disorder and Major Depressive Disorder

    PubMed Central

    Weinstock, Lauren M.; Wenze, Susan J.; Munroe, Mary K.; Miller, Ivan W.

    2013-01-01

    Despite the extensive literature on family functioning and mood disorders, less is known about concordance between patient- and family-reported family functioning. To address this question, adults with bipolar I disorder (BD; n = 92), major depressive disorder (MDD; n = 121), and their family members (ns = 135 and 201, respectively) were recruited from hospital sources. All patients and their family members completed the Family Assessment Device (Epstein et al., 1983). Intraclass correlation coefficients revealed that, in contrast to the moderate degree of concordance in the MDD sample, degree of concordance between patient- and family-reported family functioning was significantly weaker in BD. Subsequent analysis revealed that this discordance was driven by the reports of the child and young adolescent family members of the patients with BD. Results highlight the importance of collateral reports in the assessment of family functioning, especially among families of patients with BD, in research and treatment. PMID:23588224

  18. Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity

    PubMed Central

    Abou Jamra, R; Wohlfart, Sigrun; Zweier, Markus; Uebe, Steffen; Priebe, Lutz; Ekici, Arif; Giesebrecht, Susanne; Abboud, Ahmad; Al Khateeb, Mohammed Ayman; Fakher, Mahmoud; Hamdan, Saber; Ismael, Amina; Muhammad, Safia; Nöthen, Markus M; Schumacher, Johannes; Reis, André

    2011-01-01

    Non-specific intellectual disability of autosomal recessive inheritance (NS-ARID) represents an important fraction of severe cognitive dysfunction disorders. To date, only 10 genes have been identified, and further 24 linked-ARID loci have been reported, as well as others with suggestive linkage. To discover novel genes causing NS-ARID, we undertook genome-wide homozygosity mapping in 64 consanguineous multiplex families of Syrian descent. A total of 11 families revealed unique, significantly linked loci at 4q26-4q28 (MRT17), 6q12-q15 (MRT18), 18p11 (MRT19), 16p12-q12 (MRT20), 11p15 (MRT21), 11p13-q14 (MRT23), 6p12 (MRT24), 12q13-q15 (MRT25), 14q11-q12 (MRT26), 15q23-q26 (MRT27), and 6q26-q27 (MRT28), respectively. Loci ranged between 1.2 and 45.6 Mb in length. One family showed linkage to chromosome 8q24.3, and we identified a mutation in TRAPPC9. Our study further highlights the extreme heterogeneity of NS-ARID, and suggests that no major disease gene is to be expected, at least in this study group. Systematic analysis of large numbers of affected families, as presented here, will help discovering the genetic causes of ID. PMID:21629298

  19. When family drawings reveal vulnerabilities and resilience.

    PubMed

    Ireland, Rachel; Weisbart, Cindy; Dubowitz, Howard; Rowe, Jeffrey; Stein, Martin T

    2009-10-01

    Sonia's mother was concerned about her 9-year old daughter's aggression, defiant behavior, and distractibility. When she was 4-years, she kicked her bother and he lost a tooth as a result of the trauma. At this time, her pediatrician was concerned about hyperactivity, impulsivity, and defiance of authority and recommended a psychological evaluation. Sonia's father refused an evaluation and responded by physically abusing his wife while demanding a transfer to a new physician. Sonia's mother left her husband at this time and moved away with Sonia. Spousal abuse occurred frequently before the separation, and Sonia may have been physically abused as well.Currently, Sonia is in third grade where she is underperforming in many areas. She enjoys drawing and reading, but struggles to sit quietly and stay on task. Her teacher reports frequent vocal and physical disruptions. Homework takes an inordinate amount of time to complete. She does not have a sustained friendship; her mother feels that this is because other kids do not like being bossed by Sonia. Her mother is concerned about Sonia's behavior especially the unremorseful disruptive behavior toward her younger brother and grandmother.Sonia was born after an uneventful full-term pregnancy without evidence of maternal smoking, drugs, alcohol, or medications. Motor and social developmental milestones were achieved at the appropriate time. Language milestones were achieved early; her mother recalls that Sonia learned to read at the age of 3 years.Sonia's medical history is significant for obesity, seasonal allergic rhinitis, and delayed sleep onset with prolonged awakenings associated with nightmares. Her mother reports that Sonia "worries about everything," including thoughts that her brother will turn into a monster. When an argument occurs at home, she "gets scared," bites her nails, and cries. Sonia currently lives with her mother, 2 younger brothers, step-father, and grandparents. Family history is significant for

  20. Family Structure, Family Processes, and Adolescent Smoking and Drinking*

    PubMed Central

    Brown, Susan L.; Rinelli, Lauren N.

    2010-01-01

    This study examined whether family structure was associated with adolescent risk behaviors, including smoking and drinking. Family living arrangements have become increasingly diverse, yet research on adolescent risk behaviors has typically relied on measures of family structure that do not adequately capture this diversity. Data from the 1994-95 National Longitudinal Study of Adolescent Health were used to conduct logistic regression analyses that revealed adolescents in two biological married parent families were least likely to smoke or drink, whereas adolescents in cohabiting stepfamilies were most likely. Those in single-mother families and married stepfamilies were in between. Maternal socialization was related to reduced odds of smoking and drinking. Maternal modeling was positively associated with smoking and drinking. Family structure is indicative of distinct family processes that are linked to risky behaviors among adolescents. PMID:20543893

  1. The alveolate translation initiation factor 4E family reveals a custom toolkit for translational control in core dinoflagellates.

    PubMed

    Jones, Grant D; Williams, Ernest P; Place, Allen R; Jagus, Rosemary; Bachvaroff, Tsvetan R

    2015-02-10

    Dinoflagellates are eukaryotes with unusual cell biology and appear to rely on translational rather than transcriptional control of gene expression. The eukaryotic translation initiation factor 4E (eIF4E) plays an important role in regulating gene expression because eIF4E binding to the mRNA cap is a control point for translation. eIF4E is part of an extended, eukaryote-specific family with different members having specific functions, based on studies of model organisms. Dinoflagellate eIF4E diversity could provide a mechanism for dinoflagellates to regulate gene expression in a post-transcriptional manner. Accordingly, eIF4E family members from eleven core dinoflagellate transcriptomes were surveyed to determine the diversity and phylogeny of the eIF4E family in dinoflagellates and related lineages including apicomplexans, ciliates and heterokonts. The survey uncovered eight to fifteen (on average eleven) different eIF4E family members in each core dinoflagellate species. The eIF4E family members from heterokonts and dinoflagellates segregated into three clades, suggesting at least three eIF4E cognates were present in their common ancestor. However, these three clades are distinct from the three previously described eIF4E classes, reflecting diverse approaches to a central eukaryotic function. Heterokonts contain four clades, ciliates two and apicomplexans only a single recognizable eIF4E clade. In the core dinoflagellates, the three clades were further divided into nine sub-clades based on the phylogenetic analysis and species representation. Six of the sub-clades included at least one member from all eleven core dinoflagellate species, suggesting duplication in their shared ancestor. Conservation within sub-clades varied, suggesting different selection pressures. Phylogenetic analysis of eIF4E in core dinoflagellates revealed complex layering of duplication and conservation when compared to other eukaryotes. Our results suggest that the diverse eIF4E family in

  2. Impact of community-acquired paediatric rotavirus gastroenteritis on family life: data from the REVEAL study.

    PubMed

    Van der Wielen, Marie; Giaquinto, Carlo; Gothefors, Leif; Huelsse, Christel; Huet, Frédéric; Littmann, Martina; Maxwell, Melanie; Talayero, José M P; Todd, Peter; Vila, Miguel T; Cantarutti, Luigi; Van Damme, Pierre

    2010-03-15

    Rotavirus is the leading cause of acute gastroenteritis (AGE) and the most frequent cause of severe diarrhoea in children aged less than 5 years. Although the epidemiology of rotavirus gastroenteritis (RVGE) is well documented, there are few data on the impact of RVGE on the families of affected children. Data associated with the burden of RVGE, including number of working days lost, levels of parental stress, the need for alternative childcare arrangements and additional nappies used, were extracted from questionnaires completed by parents of children participating in a prospective, multicentre, observational study (Rotavirus gastroenteritis Epidemiology and Viral types in Europe Accounting for Losses in public health and society, REVEAL), conducted during 2004-2005 in selected areas of Belgium, France, Germany, Italy, Spain, Sweden, and the United Kingdom to estimate the incidence of RVGE in children aged less than 5 years seeking medical care as a result of AGE. 1102 children with RVGE were included in the present analysis. The proportion of RVGE cases that required at least one parent or other person to be absent from work was 39%-91% in the hospital setting, 44%-64% in the emergency department, and 20%-64% in primary care. Self-reported levels of parental stress were generally high (mean stress levels, > or = 5 on a 10-point visual analogue scale). Additional childcare arrangements were required in up to 21% of RVGE episodes. The mean number of nappies used per day during RVGE episodes was approximately double that used when the child was not ill. Paediatric RVGE cases cause disruption to families and parental stress. The burden of RVGE on children and their families could be substantially reduced by routine rotavirus vaccination of infants.

  3. Impact of community-acquired paediatric rotavirus gastroenteritis on family life: data from the REVEAL study

    PubMed Central

    2010-01-01

    Background Rotavirus is the leading cause of acute gastroenteritis (AGE) and the most frequent cause of severe diarrhoea in children aged less than 5 years. Although the epidemiology of rotavirus gastroenteritis (RVGE) is well documented, there are few data on the impact of RVGE on the families of affected children. Methods Data associated with the burden of RVGE, including number of working days lost, levels of parental stress, the need for alternative childcare arrangements and additional nappies used, were extracted from questionnaires completed by parents of children participating in a prospective, multicentre, observational study (Rotavirus gastroenteritis Epidemiology and Viral types in Europe Accounting for Losses in public health and society, REVEAL), conducted during 2004-2005 in selected areas of Belgium, France, Germany, Italy, Spain, Sweden, and the United Kingdom to estimate the incidence of RVGE in children aged less than 5 years seeking medical care as a result of AGE. Results 1102 children with RVGE were included in the present analysis. The proportion of RVGE cases that required at least one parent or other person to be absent from work was 39%-91% in the hospital setting, 44%-64% in the emergency department, and 20%-64% in primary care. Self-reported levels of parental stress were generally high (mean stress levels, ≥ 5 on a 10-point visual analogue scale). Additional childcare arrangements were required in up to 21% of RVGE episodes. The mean number of nappies used per day during RVGE episodes was approximately double that used when the child was not ill. Conclusions Paediatric RVGE cases cause disruption to families and parental stress. The burden of RVGE on children and their families could be substantially reduced by routine rotavirus vaccination of infants. PMID:20230601

  4. Perinatal detection of familial adenomatous polyposis.

    PubMed

    Birsner, Meredith L; Hoover-Fong, Julie; Bytyci Telegrafi, Aida; Hueppchen, Nancy A

    2012-08-01

    Hepatoblastoma is an uncommon fetal neoplasm that may represent an isolated malignancy or a component of a familial cancer or syndromic diagnosis. A large fetal liver mass was detected on routine ultrasound examination of a 23-year-old woman with thyroid nodules and hypertension. Inferior vena cava compression prompted delivery; postnatal biopsy revealed hepatoblastoma. Maternal thyroid biopsy revealed papillary carcinoma. Neonatal and maternal cytomolecular analysis revealed APC gene disruption at 5q22.2. Pedigree analysis exposed multigenerational colon cancer and thyroid cancer, which in conjunction with genetic testing is consistent with familial adenomatous polyposis. This is a novel means of familial adenomatous polyposis diagnosis. Obstetricians and perinatologists should be alert for familial cancer or syndromic diagnoses presenting as fetal neoplasms.

  5. A holistic approach to dissecting SPARC family protein complexity reveals FSTL-1 as an inhibitor of pancreatic cancer cell growth.

    PubMed

    Viloria, Katrina; Munasinghe, Amanda; Asher, Sharan; Bogyere, Roberto; Jones, Lucy; Hill, Natasha J

    2016-11-25

    SPARC is a matricellular protein that is involved in both pancreatic cancer and diabetes. It belongs to a wider family of proteins that share structural and functional similarities. Relatively little is known about this extended family, but evidence of regulatory interactions suggests the importance of a holistic approach to their study. We show that Hevin, SPOCKs, and SMOCs are strongly expressed within islets, ducts, and blood vessels, suggesting important roles for these proteins in the normal pancreas, while FSTL-1 expression is localised to the stromal compartment reminiscent of SPARC. In direct contrast to SPARC, however, FSTL-1 expression is reduced in pancreatic cancer. Consistent with this, FSTL-1 inhibited pancreatic cancer cell proliferation. The complexity of SPARC family proteins is further revealed by the detection of multiple cell-type specific isoforms that arise due to a combination of post-translational modification and alternative splicing. Identification of splice variants lacking a signal peptide suggests the existence of novel intracellular isoforms. This study underlines the importance of addressing the complexity of the SPARC family and provides a new framework to explain their controversial and contradictory effects. We also demonstrate for the first time that FSTL-1 suppresses pancreatic cancer cell growth.

  6. Concordance between patient and family reports of family functioning in bipolar I disorder and major depressive disorder.

    PubMed

    Weinstock, Lauren M; Wenze, Susan J; Munroe, Mary K; Miller, Ivan W

    2013-05-01

    Despite the extensive literature on family functioning and mood disorders, less is known about concordance between patient- and family-reported family functioning. To address this question, adults with bipolar I disorder (BD; n = 92) or major depressive disorder (MDD; n = 121) and their family members (n = 135 and 201, respectively) were recruited from hospital sources. All patients and their family members completed the Family Assessment Device (Epstein, Baldwin, Bishop. J Marital Fam Ther. 9:171-180, 1983). Intraclass correlation coefficients revealed that, in contrast to the moderate degree of concordance in the MDD sample, degree of concordance between patient- and family-reported family functioning was significantly weaker in BD. Subsequent analysis revealed that this discordance was driven by the reports of the child and young adolescent family members of the patients with BD. Results highlight the importance of collateral reports in the assessment of family functioning, especially among families of patients with BD, in research and treatment.

  7. Family-based Association Analyses of Imputed Genotypes Reveal Genome-Wide Significant Association of Alzheimer’s disease with OSBPL6, PTPRG and PDCL3

    PubMed Central

    Herold, Christine; Hooli, Basavaraj V.; Mullin, Kristina; Liu, Tian; Roehr, Johannes T; Mattheisen, Manuel; Parrado, Antonio R.; Bertram, Lars; Lange, Christoph; Tanzi, Rudolph E.

    2015-01-01

    The genetic basis of Alzheimer's disease (AD) is complex and heterogeneous. Over 200 highly penetrant pathogenic variants in the genes APP, PSEN1 and PSEN2 cause a subset of early-onset familial Alzheimer's disease (EOFAD). On the other hand, susceptibility to late-onset forms of AD (LOAD) is indisputably associated to the ε4 allele in the gene APOE, and more recently to variants in more than two-dozen additional genes identified in the large-scale genome-wide association studies (GWAS) and meta-analyses reports. Taken together however, although the heritability in AD is estimated to be as high as 80%, a large proportion of the underlying genetic factors still remain to be elucidated. In this study we performed a systematic family-based genome-wide association and meta-analysis on close to 15 million imputed variants from three large collections of AD families (~3,500 subjects from 1,070 families). Using a multivariate phenotype combining affection status and onset age, meta-analysis of the association results revealed three single nucleotide polymorphisms (SNPs) that achieved genome-wide significance for association with AD risk: rs7609954 in the gene PTPRG (P-value = 3.98·10−08), rs1347297 in the gene OSBPL6 (P-value = 4.53·10−08), and rs1513625 near PDCL3 (P-value = 4.28·10−08). In addition, rs72953347 in OSBPL6 (P-value = 6.36·10−07) and two SNPs in the gene CDKAL1 showed marginally significant association with LOAD (rs10456232, P-value: 4.76·10−07; rs62400067, P-value: 3.54·10−07). In summary, family-based GWAS meta-analysis of imputed SNPs revealed novel genomic variants in (or near) PTPRG, OSBPL6, and PDCL3 that influence risk for AD with genome-wide significance. PMID:26830138

  8. Family Diversity and School Policy.

    ERIC Educational Resources Information Center

    Lindner, Barbara

    This paper focuses on the mismatch between the diversity of American families and the structure of the schools. An examination of the history of the family reveals that the family of the past was very different from the idealized versions popularized in the media. Data concerning divorce, single-parent families, intergenerational interaction,…

  9. Elucidation of exo-beta-D-glucosaminidase activity of a family 9 glycoside hydrolase (PBPRA0520) from Photobacterium profundum SS9.

    PubMed

    Honda, Yuji; Shimaya, Nozomi; Ishisaki, Kana; Ebihara, Mitsuru; Taniguchi, Hajime

    2011-04-01

    A glycoside hydrolase (GH) gene from Photobacterium profundum SS9 (PBPRA0520) belonging to GH family 9 was expressed in Escherichia coli. The protein was expressed with the intact N-terminal sequence, suggesting that it is an intracellular enzyme. The recombinant protein showed hydrolytic activity toward chitobiose [(GlcN)(2)] and cellobiose (CG(2)) in various disaccharides. This protein also released 4-nitrophenol (PNP) from both 4-nitrophenyl-β-D-glucosaminide (GlcN-PNP) and 4-nitrophenyl-β-D-glucoside (Glc-PNP). The hydrolytic pattern observed in chitooligosaccharides and cellooligosaccharides suggested that the reaction proceeded from the nonreducing end in an exo-type manner. Time-dependent (1)H-nuclear magnetic resonance (NMR) analysis of the anomeric form of the enzymatic reaction products indicated that the protein is an inverting enzyme. k(cat)/K(m) of (GlcN)(2) hydrolysis was 14 times greater than that of CG(2) hydrolysis. These results suggested that the protein is an exo-β-D-glucosaminidase (EC 3.2.1.165) rather than a glucan 1,4-β-D-glucosidase (EC 3.2.1.74). Based on the results, we suggest that the function of conserved GH9 proteins in the chitin catabolic operon is to cleave a (GlcN)(2)-phosphate derivative by hydrolysis during intracellular chitooligosaccharide catabolism in Vibrionaceae.

  10. Is Family Structure that Critical? Family Relationships of Children with Divorced and Married Parents.

    ERIC Educational Resources Information Center

    Kanoy, Korrel W.; And Others

    1984-01-01

    Examined the interrelationships between family interaction and individual well-being for children with divorced and married parents. Used mothers' views of the quality and quantity of family relationships to predict children's views of themselves and their families. Results revealed that variables related to quality were the best predictors of…

  11. Evaluation of a family camp intervention for children with a heart transplant and their families.

    PubMed

    Nicholas, David B; Dodd, Bernadette; Urschel, Simon; Young, Amber; West, Lori J

    2016-10-01

    Given the arduous course of heart transplantation and follow-up care, recipients and their families face complex challenges and stressors warranting supportive interventions. This study explored the impact of a family camp as an intervention of education and social support for pediatric transplant recipients and their families. A total of 49 individuals participated in this evaluation, including eight children and nine youth with heart transplants, five siblings, 19 parents, and 13 health care providers. Participants ranked and described the 3-day family camp experience. Analysis of pre/post intervention measures on knowledge, social support, and coping revealed statistically significant improvements in knowledge, social support, self-esteem, and psychological stability. Satisfaction surveys revealed the camp to be an important resource for education, family fun, and peer support among transplant recipients, their families, and the health care team. Implications and recommendations are offered for clinical and community practice.

  12. Pre-steady-state Kinetic Analysis of a Family D DNA Polymerase from Thermococcus sp. 9°N Reveals Mechanisms for Archaeal Genomic Replication and Maintenance*

    PubMed Central

    Schermerhorn, Kelly M.; Gardner, Andrew F.

    2015-01-01

    Family D DNA polymerases (polDs) have been implicated as the major replicative polymerase in archaea, excluding the Crenarchaeota branch, and bear little sequence homology to other DNA polymerase families. Here we report a detailed kinetic analysis of nucleotide incorporation and exonuclease activity for a Family D DNA polymerase from Thermococcus sp. 9°N. Pre-steady-state single-turnover nucleotide incorporation assays were performed to obtain the kinetic parameters, kpol and Kd, for correct nucleotide incorporation, incorrect nucleotide incorporation, and ribonucleotide incorporation by exonuclease-deficient polD. Correct nucleotide incorporation kinetics revealed a relatively slow maximal rate of polymerization (kpol ∼2.5 s−1) and especially tight nucleotide binding (Kd(dNTP) ∼1.7 μm), compared with DNA polymerases from Families A, B, C, X, and Y. Furthermore, pre-steady-state nucleotide incorporation assays revealed that polD prevents the incorporation of incorrect nucleotides and ribonucleotides primarily through reduced nucleotide binding affinity. Pre-steady-state single-turnover assays on wild-type 9°N polD were used to examine 3′-5′ exonuclease hydrolysis activity in the presence of Mg2+ and Mn2+. Interestingly, substituting Mn2+ for Mg2+ accelerated hydrolysis rates >40-fold (kexo ≥110 s−1 versus ≥2.5 s−1). Preference for Mn2+ over Mg2+ in exonuclease hydrolysis activity is a property unique to the polD family. The kinetic assays performed in this work provide critical insight into the mechanisms that polD employs to accurately and efficiently replicate the archaeal genome. Furthermore, despite the unique properties of polD, this work suggests that a conserved polymerase kinetic pathway is present in all known DNA polymerase families. PMID:26160179

  13. Gender and the Work-Family Interface: Exploring Differences across the Family Life Course

    ERIC Educational Resources Information Center

    Martinengo, Giuseppe; Jacob, Jenet I.; Hill, E. Jeffrey

    2010-01-01

    This study examines gender differences in the work-family interface across six family life stages using a global sample of IBM employees in 79 countries (N = 41,813). Family life stage was constructed using the age of respondent and age of youngest child. Results revealed that having young children at home was the critical catalyst for gender…

  14. Perceptions of Personal and Familial Adjustment by Children from Intact, Single-Parent, and Reconstituted Families.

    ERIC Educational Resources Information Center

    Nunn, Gerald D.; And Others

    1983-01-01

    Investigated children's (N=566) personal and familial adjustment as a function of familial configuration and gender. The results revealed less positive adjustment among children from divorced families. Males appeared to be favorably affected within the single-parent configuration, while females were more favorably adjusted within the reconstituted…

  15. Understanding familial and non-familial renal cell cancer.

    PubMed

    Bodmer, Daniëlle; van den Hurk, Wilhelmina; van Groningen, Jan J M; Eleveld, Marc J; Martens, Gerard J M; Weterman, Marian A J; van Kessel, Ad Geurts

    2002-10-01

    Molecular genetic analysis of familial and non-familial cases of conventional renal cell carcinoma (RCC) revealed a critical role(s) for multiple genes on human chromosome 3. For some of these genes, e.g. VHL, such a role has been firmly established, whereas for others, definite confirmation is still pending. Additionally, a novel role for constitutional chromosome 3 translocations as risk factors for conventional RCC development is rapidly emerging. Also, several candidate loci have been mapped to other chromosomes in both familial and non-familial RCCs of distinct histologic subtypes. The MET gene on chromosome 7, for example, was found to be involved in both forms of papillary RCC. A PRCC-TFE3 fusion gene is typically encountered in t(X;1)-positive non-familial papillary RCCs and results in abrogation of the cell cycle mitotic spindle checkpoint in a dominant-negative fashion, thus leading to RCC. Together, these data turn human RCC into a model system in which different aspects of both familial and non-familial syndromes may act as novel paradigms for cancer development.

  16. Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian family.

    PubMed

    Zobor, Ditta; Balousha, Ghassan; Baumann, Britta; Wissinger, Bernd

    2014-01-01

    Retinitis pigmentosa (RP) is a heterogenous group of inherited retinal degenerations caused by mutations in at least 45 genes. Recently, the FAM161A gene was identified as the causative gene for RP28, an autosomal recessive form of RP. We performed a clinical and molecular genetic study of a consanguineous Palestinian family with two three siblings affected with retinitis pigmentosa. DNA samples were collected from the index patient, his father, his affected sister, and two non-affected brothers. DNA sample from the index was subjected to high resolution genome-wide SNP array. Assuming identity-by-descent in this consanguineous family we applied homozygosity mapping to identify disease causing genes. The index patient reported night blindness since the age of 20 years, followed by moderate disease progression with decrease of peripheral vision, the development of photophobia and later on reduced central vision. At the age of 40 his visual acuity was counting fingers (CF) for both eyes, color discrimination was not possible and his visual fields were severely constricted. Funduscopic examination revealed a typical appearance of advanced RP with optic disc pallor, narrowed retinal vessels, bone-spicule like pigmentary changes in the mid-periphery and atrophic changes in the macula. His younger affected brother (37 years) was reported with overall milder symptoms, while the youngest sister (21 years) reported problems only with night vision. Applying high-density SNP arrays we identified several homozygous genomic regions one of which included the recently identified FAM161A gene mutated in RP28-linked autosomal recessive RP. Sequencing analysis revealed the presence of a novel homozygous nonsense mutation, c.1003C>T/p.R335X in the index patient and the affected sister. We identified an RP28-linked RP family in the Palestinian population caused by a novel nonsense mutation in FAM161A. RP in this family shows a typical disease onset with moderate to rapid progression

  17. Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian family

    PubMed Central

    Zobor, Ditta; Balousha, Ghassan; Baumann, Britta

    2014-01-01

    Purpose: Retinitis pigmentosa (RP) is a heterogenous group of inherited retinal degenerations caused by mutations in at least 45 genes. Recently, the FAM161A gene was identified as the causative gene for RP28, an autosomal recessive form of RP. Methods: We performed a clinical and molecular genetic study of a consanguineous Palestinian family with two three siblings affected with retinitis pigmentosa. DNA samples were collected from the index patient, his father, his affected sister, and two non-affected brothers. DNA sample from the index was subjected to high resolution genome-wide SNP array. Assuming identity-by-descent in this consanguineous family we applied homozygosity mapping to identify disease causing genes. Results: The index patient reported night blindness since the age of 20 years, followed by moderate disease progression with decrease of peripheral vision, the development of photophobia and later on reduced central vision. At the age of 40 his visual acuity was counting fingers (CF) for both eyes, color discrimination was not possible and his visual fields were severely constricted. Funduscopic examination revealed a typical appearance of advanced RP with optic disc pallor, narrowed retinal vessels, bone-spicule like pigmentary changes in the mid-periphery and atrophic changes in the macula. His younger affected brother (37 years) was reported with overall milder symptoms, while the youngest sister (21 years) reported problems only with night vision. Applying high-density SNP arrays we identified several homozygous genomic regions one of which included the recently identified FAM161A gene mutated in RP28-linked autosomal recessive RP. Sequencing analysis revealed the presence of a novel homozygous nonsense mutation, c.1003C>T/p.R335X in the index patient and the affected sister. Conclusion: We identified an RP28-linked RP family in the Palestinian population caused by a novel nonsense mutation in FAM161A. RP in this family shows a typical disease

  18. Discovering human germ cell mutagens with whole genome sequencing: Insights from power calculations reveal the importance of controlling for between-family variability.

    PubMed

    Webster, R J; Williams, A; Marchetti, F; Yauk, C L

    2018-07-01

    Mutations in germ cells pose potential genetic risks to offspring. However, de novo mutations are rare events that are spread across the genome and are difficult to detect. Thus, studies in this area have generally been under-powered, and no human germ cell mutagen has been identified. Whole Genome Sequencing (WGS) of human pedigrees has been proposed as an approach to overcome these technical and statistical challenges. WGS enables analysis of a much wider breadth of the genome than traditional approaches. Here, we performed power analyses to determine the feasibility of using WGS in human families to identify germ cell mutagens. Different statistical models were compared in the power analyses (ANOVA and multiple regression for one-child families, and mixed effect model sampling between two to four siblings per family). Assumptions were made based on parameters from the existing literature, such as the mutation-by-paternal age effect. We explored two scenarios: a constant effect due to an exposure that occurred in the past, and an accumulating effect where the exposure is continuing. Our analysis revealed the importance of modeling inter-family variability of the mutation-by-paternal age effect. Statistical power was improved by models accounting for the family-to-family variability. Our power analyses suggest that sufficient statistical power can be attained with 4-28 four-sibling families per treatment group, when the increase in mutations ranges from 40 to 10% respectively. Modeling family variability using mixed effect models provided a reduction in sample size compared to a multiple regression approach. Much larger sample sizes were required to detect an interaction effect between environmental exposures and paternal age. These findings inform study design and statistical modeling approaches to improve power and reduce sequencing costs for future studies in this area. Crown Copyright © 2018. Published by Elsevier B.V. All rights reserved.

  19. Attaining Familyhood through Family Conferencing.

    ERIC Educational Resources Information Center

    Krop, Lois P.; Barry, James T.

    Meeting together as a family group for discussion and/or activities is the best way of establishing and maintaining a system of free-flowing, snag-proof family communication. Once a family starts meeting together, a sense of purpose and direction is needed. Adherence to four concepts becomes important: dialogue democracy, reasoned revealing,…

  20. Work, Family and Community Support as Predictors of Work-Family Conflict: A Study of Low-Income Workers

    ERIC Educational Resources Information Center

    Griggs, Tracy Lambert; Casper, Wendy J.; Eby, Lillian T.

    2013-01-01

    This study examines relationships between support from work, family and community domains with time- and strain-based work-family conflict in a sample of low-income workers. Results reveal significant within-domain and cross-domain relationships between support from all three life domains with work--family conflict. With respect to family support,…

  1. A combined morphological, ultrastructural, molecular, and biochemical study of the peculiar family Gomontiellaceae (Oscillatoriales) reveals a new cylindrospermopsin-producing clade of cyanobacteria.

    PubMed

    Bohunická, Markéta; Mareš, Jan; Hrouzek, Pavel; Urajová, Petra; Lukeš, Martin; Šmarda, Jan; Komárek, Jiří; Gaysina, Lira A; Strunecký, Otakar

    2015-12-01

    Members of the morphologically unusual cyanobacterial family Gomontiellaceae were studied using a polyphasic approach. Cultured strains of Hormoscilla pringsheimii, Starria zimbabweënsis, Crinalium magnum, and Crinalium epipsammum were thoroughly examined, and the type specimen of the family, Gomontiella subtubulosa, was investigated. The results of morphological observations using both light microscopy and transmission electron microscopy were consistent with previous reports and provided evidence for the unique morphological and ultrastructural traits of this family. Analysis of the 16S rRNA gene confirmed the monophyletic origin of non-marine repre-sentatives of genera traditionally classified into this family. The family was phylogenetically placed among other groups of filamentous cyanobacterial taxa. The presence of cellulose in the cell wall was analyzed and confirmed in all cultured Gomontiellaceae members using Fourier transform infrared spectroscopy and fluorescence microscopy. Evaluation of toxins produced by the studied strains revealed the hepatotoxin cylindrospermopsin (CYN) in available strains of the genus Hormoscilla. Production of this compound in both Hormoscilla strains was detected using high-performance liquid chromatography in tandem with high resolution mass spectrometry and confirmed by positive PCR amplification of the cyrJ gene from the CYN biosynthetic cluster. To our knowledge, this is the first report of CYN production by soil cyanobacteria, establishing a previously unreported CYN-producing lineage. This study indicates that cyanobacteria of the family Gomontiellaceae form a separate but coherent cluster defined by numerous intriguing morphological, ultrastructural, and biochemical features, and exhibiting a toxic potential worthy of further investigation. © 2015 Phycological Society of America.

  2. Eco-Evolutionary Dynamics of Episomes among Ecologically Cohesive Bacterial Populations

    DOE PAGES

    Xue, Hong; Cordero, Otto X.; Camas, Francisco M.; ...

    2015-05-05

    Although plasmids and other episomes are recognized as key players in horizontal gene transfer among microbes, their diversity and dynamics among ecologically structured host populations in the wild remain poorly understood. Here, we show that natural populations of marine Vibrionaceae bacteria host large numbers of families of episomes, consisting of plasmids and a surprisingly high fraction of plasmid-like temperate phages. Episomes are unevenly distributed among host populations, and contrary to the notion that high-density communities in biofilms act as hot spots of gene transfer, we identified a strong bias for episomes to occur in free-living as opposed to particle-attached cells.more » Mapping of episomal families onto host phylogeny shows that, with the exception of all phage and a few plasmid families, most are of recent evolutionary origin and appear to have spread rapidly by horizontal transfer. Such high eco-evolutionary turnover is particularly surprising for plasmids that are, based on previously suggested categorization, putatively nontransmissible, indicating that this type of plasmid is indeed frequently transferred by currently unknown mechanisms. Finally, analysis of recent gene transfer among plasmids reveals a network of extensive exchange connecting nearly all episomes. Genes functioning in plasmid transfer and maintenance are frequently exchanged, suggesting that plasmids can be rapidly transformed from one category to another. The broad distribution of episomes among distantly related hosts and the observed promiscuous recombination patterns show how episomes can offer their hosts rapid assembly and dissemination of novel functions.« less

  3. Structural analyses of the CRISPR protein Csc2 reveal the RNA-binding interface of the type I-D Cas7 family.

    PubMed

    Hrle, Ajla; Maier, Lisa-Katharina; Sharma, Kundan; Ebert, Judith; Basquin, Claire; Urlaub, Henning; Marchfelder, Anita; Conti, Elena

    2014-01-01

    Upon pathogen invasion, bacteria and archaea activate an RNA-interference-like mechanism termed CRISPR (clustered regularly interspaced short palindromic repeats). A large family of Cas (CRISPR-associated) proteins mediates the different stages of this sophisticated immune response. Bioinformatic studies have classified the Cas proteins into families, according to their sequences and respective functions. These range from the insertion of the foreign genetic elements into the host genome to the activation of the interference machinery as well as target degradation upon attack. Cas7 family proteins are central to the type I and type III interference machineries as they constitute the backbone of the large interference complexes. Here we report the crystal structure of Thermofilum pendens Csc2, a Cas7 family protein of type I-D. We found that Csc2 forms a core RRM-like domain, flanked by three peripheral insertion domains: a lid domain, a Zinc-binding domain and a helical domain. Comparison with other Cas7 family proteins reveals a set of similar structural features both in the core and in the peripheral domains, despite the absence of significant sequence similarity. T. pendens Csc2 binds single-stranded RNA in vitro in a sequence-independent manner. Using a crosslinking - mass-spectrometry approach, we mapped the RNA-binding surface to a positively charged surface patch on T. pendens Csc2. Thus our analysis of the key structural and functional features of T. pendens Csc2 highlights recurring themes and evolutionary relationships in type I and type III Cas proteins.

  4. Family environment patterns in families with bipolar children.

    PubMed

    Belardinelli, Cecilia; Hatch, John P; Olvera, Rene L; Fonseca, Manoela; Caetano, Sheila C; Nicoletti, Mark; Pliszka, Steven; Soares, Jair C

    2008-04-01

    We studied the characteristics of family functioning in bipolar children and healthy comparison children. We hypothesized that the family environment of bipolar children would show greater levels of dysfunction as measured by the Family Environment Scale (FES). We compared the family functioning of 36 families that included a child with DSM-IV bipolar disorder versus 29 comparison families that included only healthy children. All subjects and their parents were assessed with the K-SADS-PL interview. The parents completed the FES to assess their current family functioning. Multivariate analysis of variance was used to compare the family environment of families with and without offspring with bipolar disorder. Parents of bipolar children reported lower levels of family cohesion (p<0.001), expressiveness (p=0.005), active-recreational orientation (p<0.001), intellectual-cultural orientation (p=0.04) and higher levels of conflict (p<0.001) compared to parents with no bipolar children. Secondary analyses within the bipolar group revealed lower levels of organization (p=0.031) and cohesion (p=0.014) in families where a parent had a history of mood disorders compared to families where parents had no history of mood disorders. Length of illness in the affected child was inversely associated with family cohesion (r=-0.47, p=0.004). Due to the case-control design of the study, we cannot comment on the development of these family problems or attribute their cause specifically to child bipolar disorder. Families with bipolar children show dysfunctional patterns related to interpersonal interactions and personal growth. A distressed family environment should be addressed when treating children with bipolar disorder.

  5. Family meals and body weight in US adults.

    PubMed

    Sobal, Jeffery; Hanson, Karla

    2011-09-01

    Family meals are an important ritual in contemporary societies and many studies have reported associations of family meals with several biopsychosocial outcomes among children and adolescents. However, few representative analyses of family meals have been conducted in samples of adults, and adults may differ from young people in predictors and outcomes of family meal consumption. We examined the prevalence and predictors of adult family meals and body weight outcomes. The cross-sectional 2009 Cornell National Social Survey (CNSS) included questions about the frequency of family meals, body weight as BMI and sociodemographic characteristics. The CNSS telephone survey used random digit dialling to sample individuals. We analysed data from 882 adults living with family members in a nationally representative US sample. Prevalence of family meals among these adults revealed that 53 % reported eating family meals seven or more times per week. Predictive results revealed that adults who more frequently ate family meals were more likely to be married and less likely to be employed full-time, year-round. Outcome results revealed that the overall frequency of family meals among adults was not significantly associated with any measure of body weight. However, interaction term analysis suggested an inverse association between frequency of family meals and BMI for adults with children in the household, and no association among adults without children. These findings suggest that family meals among adults are commonplace, associated with marital and work roles, and marginally associated with body weight only in households with children.

  6. Conserved Lipid and Small-Molecule Modulation of COQ8 Reveals Regulation of the Ancient Kinase-like UbiB Family.

    PubMed

    Reidenbach, Andrew G; Kemmerer, Zachary A; Aydin, Deniz; Jochem, Adam; McDevitt, Molly T; Hutchins, Paul D; Stark, Jaime L; Stefely, Jonathan A; Reddy, Thiru; Hebert, Alex S; Wilkerson, Emily M; Johnson, Isabel E; Bingman, Craig A; Markley, John L; Coon, Joshua J; Dal Peraro, Matteo; Pagliarini, David J

    2018-02-15

    Human COQ8A (ADCK3) and Saccharomyces cerevisiae Coq8p (collectively COQ8) are UbiB family proteins essential for mitochondrial coenzyme Q (CoQ) biosynthesis. However, the biochemical activity of COQ8 and its direct role in CoQ production remain unclear, in part due to lack of known endogenous regulators of COQ8 function and of effective small molecules for probing its activity in vivo. Here, we demonstrate that COQ8 possesses evolutionarily conserved ATPase activity that is activated by binding to membranes containing cardiolipin and by phenolic compounds that resemble CoQ pathway intermediates. We further create an analog-sensitive version of Coq8p and reveal that acute chemical inhibition of its endogenous activity in yeast is sufficient to cause respiratory deficiency concomitant with CoQ depletion. Collectively, this work defines lipid and small-molecule modulators of an ancient family of atypical kinase-like proteins and establishes a chemical genetic system for further exploring the mechanistic role of COQ8 in CoQ biosynthesis. Copyright © 2017 Elsevier Ltd. All rights reserved.

  7. Familial polymorphous cold eruption.

    PubMed

    Martin, S; Eastern, J; Knox, J M

    1981-02-01

    An erythematous, burning papular eruption, constitutional symptoms, fever, and arthropathy developed in a 65-year-old patient after cold exposure. Involvement of other family members occurred in an autosomal dominant pattern. Histopathologic examination of a biopsy specimen revealed telangiectasia and primarily neutrophilic perivascular inflammation, consistent with earlier biopsy reports of this syndrome. Although previously called "familial cold urticaria," this disease is not characterized by urticaria and may be best descriptively termed, "familial polymorphous cold eruption."

  8. Integrating Coping Behavior in Family Stress Theory.

    ERIC Educational Resources Information Center

    McCubbin, Hamilton I.

    1979-01-01

    Reveals the tripartite aspect of coping behavior in the face of family separation: the management of family stability and individual anxiety; the procurement of social support from community, interpersonal relationships, and extended family; and direct attack on the stressor event through individual and collective family efforts. (Author/BEF)

  9. Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.

    PubMed

    Leppa, Virpi M; Kravitz, Stephanie N; Martin, Christa Lese; Andrieux, Joris; Le Caignec, Cedric; Martin-Coignard, Dominique; DyBuncio, Christina; Sanders, Stephan J; Lowe, Jennifer K; Cantor, Rita M; Geschwind, Daniel H

    2016-09-01

    Rare mutations, including copy-number variants (CNVs), contribute significantly to autism spectrum disorder (ASD) risk. Although their importance has been established in families with only one affected child (simplex families), the contribution of both de novo and inherited CNVs to ASD in families with multiple affected individuals (multiplex families) is less well understood. We analyzed 1,532 families from the Autism Genetic Resource Exchange (AGRE) to assess the impact of de novo and rare CNVs on ASD risk in multiplex families. We observed a higher burden of large, rare CNVs, including inherited events, in individuals with ASD than in their unaffected siblings (odds ratio [OR] = 1.7), but the rate of de novo events was significantly lower than in simplex families. In previously characterized ASD risk loci, we identified 49 CNVs, comprising 24 inherited events, 19 de novo events, and 6 events of unknown inheritance, a significant enrichment in affected versus control individuals (OR = 3.3). In 21 of the 30 families (71%) in whom at least one affected sibling harbored an established ASD major risk CNV, including five families harboring inherited CNVs, the CNV was not shared by all affected siblings, indicating that other risk factors are contributing. We also identified a rare risk locus for ASD and language delay at chromosomal region 2q24 (implicating NR4A2) and another lower-penetrance locus involving inherited deletions and duplications of WWOX. The genetic architecture in multiplex families differs from that in simplex families and is complex, warranting more complete genetic characterization of larger multiplex ASD cohorts. Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  10. Sibling Ordinal Position and Family Education.

    ERIC Educational Resources Information Center

    McDonough, James J., Jr.

    1978-01-01

    Results for the 30 families as seen as "teaching-demonstration" families suggest that Adler's contention that more "first and youngest" children reveal problems and concerns (as defined by their parents) is correct. (Author)

  11. Analysis of nucleotide diphosphate sugar dehydrogenases reveals family and group-specific relationships.

    PubMed

    Freas, Nicholas; Newton, Peter; Perozich, John

    2016-01-01

    UDP-glucose dehydrogenase (UDPGDH), UDP-N-acetyl-mannosamine dehydrogenase (UDPNAMDH) and GDP-mannose dehydrogenase (GDPMDH) belong to a family of NAD (+)-linked 4-electron-transfering oxidoreductases called nucleotide diphosphate sugar dehydrogenases (NDP-SDHs). UDPGDH is an enzyme responsible for converting UDP-d-glucose to UDP-d-glucuronic acid, a product that has different roles depending on the organism in which it is found. UDPNAMDH and GDPMDH convert UDP-N-acetyl-mannosamine to UDP-N-acetyl-mannosaminuronic acid and GDP-mannose to GDP-mannuronic acid, respectively, by a similar mechanism to UDPGDH. Their products are used as essential building blocks for the exopolysaccharides found in organisms like Pseudomonas aeruginosa and Staphylococcus aureus. Few studies have investigated the relationships between these enzymes. This study reveals the relationships between the three enzymes by analysing 229 amino acid sequences. Eighteen invariant and several other highly conserved residues were identified, each serving critical roles in maintaining enzyme structure, coenzyme binding or catalytic function. Also, 10 conserved motifs that included most of the conserved residues were identified and their roles proposed. A phylogenetic tree demonstrated relationships between each group and verified group assignment. Finally, group entropy analysis identified novel conservations unique to each NDP-SDH group, including residue positions critical to NDP-sugar substrate interaction, enzyme structure and intersubunit contact. These positions may serve as targets for future research. UDP-glucose dehydrogenase (UDPGDH, EC 1.1.1.22).

  12. Comparative genomic and proteomic analyses of PE/PPE multigene family of Mycobacterium tuberculosis H37Rv and H37Ra reveal novel and interesting differences with implications in virulence

    PubMed Central

    Kohli, Sakshi; Singh, Yadvir; Sharma, Khushbu; Mittal, Aditya; Ehtesham, Nasreen Z.; Hasnain, Seyed E.

    2012-01-01

    Tuberculosis, caused by Mycobacterium tuberculosis, remains a leading infectious disease taking one human life every 15 s globally. The two well-characterized strains H37Rv and H37Ra, derived from the same parental strain M. tuberculosis H37, show dramatically different pathogenic phenotypes. PE/PPE gene family, comprising of 176 open reading frames and present exclusively in genus Mycobacterium, accounts for ∼10% of the M. tuberculosis genome. Our comprehensive in silico analyses of PE/PPE family of H37Ra and virulent H37Rv strains revealed genetic differences between these strains in terms of several single nucleotide variations and InDels and these manifested in changes in physico-chemical properties, phosphorylation sites, and protein: protein interacting domains of the corresponding proteomes. Similar comparisons using the 13 sigma factor genes, 36 members of the mammalian cell entry family, 13 mycobacterial membrane protein large family members and 11 two-component signal transduction systems along with 5 orphaned response regulators and 2 orphaned sensor kinases failed to reveal very significant difference between H37Rv and H37Ra, reinforcing the importance of PE/PPE genes. Many of these changes between H37Rv and H37Ra can be correlated to differences in pathogenesis and virulence of the two strains. PMID:22618876

  13. All in the family: Work-family enrichment and crossover among farm couples.

    PubMed

    Sprung, Justin M; Jex, Steve M

    2017-04-01

    This study expands upon the contextualization of the work-family interface by examining positive work-family experiences within the farming industry. Both individual and crossover effects were examined among a sample of 217 married farm couples. Results demonstrated multiple significant relationships between self-reported attitudes, work-family enrichment, and health outcomes. In addition, crossover effects reveal the importance of individual attitudes (husband work engagement and wife farm satisfaction) for spousal work-family enrichment and health outcomes. Furthermore, individual work-family enrichment was positively related to spousal psychological health and negatively related to spousal physical symptoms. Many of these findings remained significant after controlling for work-family conflict. Overall, our results suggest the potential beneficial impact of the integrated work-family dynamic associated with the farming profession for positive work-family experiences. Implications of these findings, as well as directions for future research, are discussed. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

  14. Family Relationships From Adolescence to Early Adulthood: Changes in the Family System Following Firstborns’ Leaving Home

    PubMed Central

    Whiteman, Shawn D.; McHale, Susan M.; Crouter, Ann C.

    2010-01-01

    This study charted the course of parent-child and sibling relationships from early adolescence to early adulthood and examined how these relationships changed following firstborns’ departure from their parents’ home for the first time. Data were drawn from a 10-year longitudinal study of family relationships. Participants included mothers, fathers, and first- and second-born children from 184, White, working and middle class families. Multilevel models revealed declines in parent-child conflict, acceptance, and sibling negativity, and increases or U-shaped patterns in sibling and parent-child intimacy over time. Birth order X leaving home interactions revealed that firstborns’ leaving home related to changes in family relationship qualities for both first- and second-borns, with relationships improving for firstborns and no changes or declines in relationship quality for second-borns. Overall, the results highlight the inter-relatedness of family subsystems. PMID:21765625

  15. Clinical and genetic analyses reveal novel pathogenic ABCA4 mutations in Stargardt disease families

    PubMed Central

    Lin, Bing; Cai, Xue-Bi; Zheng, Zhi-Li; Huang, Xiu-Feng; Liu, Xiao-Ling; Qu, Jia; Jin, Zi-Bing

    2016-01-01

    Stargardt disease (STGD1) is a juvenile macular degeneration predominantly inherited in an autosomal recessive pattern, characterized by decreased central vision in the first 2 decades of life. The condition has a genetic basis due to mutation in the ABCA4 gene, and arises from the deposition of lipofuscin-like substance in the retinal pigmented epithelium (RPE) with secondary photoreceptor cell death. In this study, we describe the clinical and genetic features of Stargardt patients from four unrelated Chinese cohorts. The targeted exome sequencing (TES) was carried out in four clinically confirmed patients and their family members using a gene panel comprising 164 known causative inherited retinal dystrophy (IRD) genes. Genetic analysis revealed eight ABCA4 mutations in all of the four pedigrees, including six mutations in coding exons and two mutations in adjacent intronic areas. All the affected individuals showed typical manifestations consistent with the disease phenotype. We disclose two novel ABCA4 mutations in Chinese patients with STGD disease, which will expand the existing spectrum of disease-causing variants and will further aid in the future mutation screening and genetic counseling, as well as in the understanding of phenotypic and genotypic correlations. PMID:27739528

  16. Structural Determination of Functional Domains in Early B-cell Factor (EBF) Family of Transcription Factors Reveals Similarities to Rel DNA-binding Proteins and a Novel Dimerization Motif*

    PubMed Central

    Siponen, Marina I.; Wisniewska, Magdalena; Lehtiö, Lari; Johansson, Ida; Svensson, Linda; Raszewski, Grzegorz; Nilsson, Lennart; Sigvardsson, Mikael; Berglund, Helena

    2010-01-01

    The early B-cell factor (EBF) transcription factors are central regulators of development in several organs and tissues. This protein family shows low sequence similarity to other protein families, which is why structural information for the functional domains of these proteins is crucial to understand their biochemical features. We have used a modular approach to determine the crystal structures of the structured domains in the EBF family. The DNA binding domain reveals a striking resemblance to the DNA binding domains of the Rel homology superfamily of transcription factors but contains a unique zinc binding structure, termed zinc knuckle. Further the EBF proteins contain an IPT/TIG domain and an atypical helix-loop-helix domain with a novel type of dimerization motif. The data presented here provide insights into unique structural features of the EBF proteins and open possibilities for detailed molecular investigations of this important transcription factor family. PMID:20592035

  17. Are single-parent families different from two-parent families in the treatment of adolescent bulimia nervosa using family-based treatment?

    PubMed

    Doyle, Angela Celio; McLean, Carmen; Washington, Blaine N; Hoste, Renee Rienecke; le Grange, Daniel

    2009-03-01

    To examine whether family-based treatment (FBT) for adolescent bulimia nervosa (BN), which emphasizes family involvement in helping to reduce binge eating and purging behaviors, is differentially efficacious in single-parent families versus two-parent families. Forty-one adolescents (97.6% female; 16.0 +/- 1.7 years old) with either BN (n = 18) or subthreshold BN (n = 23) were randomized to FBT as part of a larger randomized controlled trial studying treatments for adolescent BN. Two-parent (n = 27; 65.9%) and single-parent (n = 14; 34.2%) families were compared on demographic variables, presence of comorbid psychiatric illnesses, and symptoms of BN at baseline, post, and 6-month follow-up. ANOVA and chi-square analyses revealed no statistically significant differences between two-parent and single-parent families on any variables with the exception of ethnicity, for which a greater proportion of Caucasians and Hispanic families had two- parent families compared with African-American families (chi(2) = 8.68, p = .01). These findings suggest that FBT may be an appropriate and efficacious treatment for single-parent families as well as two-parent families, despite the reliance on parental intervention to reduce bulimic symptoms and normalize eating patterns.

  18. Comprehensive Analysis of ETS Family Members in Melanoma by Fluorescence In Situ Hybridization Reveals Recurrent ETV1 Amplification

    PubMed Central

    Mehra, Rohit; Dhanasekaran, Saravana M; Palanisamy, Nallasivam; Vats, Pankaj; Cao, Xuhong; Kim, Jung H; Kim, David SL; Johnson, Timothy; Fullen, Douglas R; Chinnaiyan, Arul M

    2013-01-01

    E26 transformation-specific (ETS) transcription factors are known to be involved in gene aberrations in various malignancies including prostate cancer; however, their role in melanoma oncogenesis has yet to be fully explored. We have completed a comprehensive fluorescence in situ hybridization (FISH)-based screen for all 27 members of the ETS transcription factor family on two melanoma tissue microarrays, representing 223 melanomas, 10 nevi, and 5 normal skin tissues. None of the melanoma cases demonstrated ETS fusions; however, 6 of 114 (5.3%) melanomas were amplified for ETV1 using a break-apart FISH probe. For the six positive cases, locus-controlled FISH probes revealed that two of six cases were amplified for the ETV1 region, whereas four cases showed copy gains of the entire chromosome 7. The remaining 26 ETS family members showed no chromosomal aberrations by FISH. Quantitative polymerase chain reaction showed an average 3.4-fold (P value = .00218) increased expression of ETV1 in melanomas, including the FISH ETV1-amplified cases, when compared to other malignancies (prostate, breast, and bladder carcinomas). These data suggest that a subset of melanomas overexpresses ETV1 and amplification of ETV1 may be one mechanism for achieving high gene expression. PMID:23908683

  19. Family Relational Values in the Parent-Adolescent Relationship

    ERIC Educational Resources Information Center

    Edgar-Smith, Susan E.; Wozniak, Robert H.

    2010-01-01

    This study measured the relational family values system of upper-middle-class mothers, fathers, and adolescents in the United States. Results revealed that participants shared common family values that mainly reflected the importance of individualism, equality in family relationships, family member interdependence, and parental guidance. Parent…

  20. Introduction to special section of the Journal of Family Psychology, advances in mixed methods in family psychology: integrative and applied solutions for family science.

    PubMed

    Weisner, Thomas S; Fiese, Barbara H

    2011-12-01

    Mixed methods in family psychology refer to the systematic integration of qualitative and quantitative techniques to represent family processes and settings. Over the past decade, significant advances have been made in study design, analytic strategies, and technological support (such as software) that allow for the integration of quantitative and qualitative methods and for making appropriate inferences from mixed methods. This special section of the Journal of Family Psychology illustrates how mixed methods may be used to advance knowledge in family science through identifying important cultural differences in family structure, beliefs, and practices, and revealing patterns of family relationships to generate new measurement paradigms and inform clinical practice. Guidance is offered to advance mixed methods research in family psychology through sound principles of peer review.

  1. Knockout of the PKN Family of Rho Effector Kinases Reveals a Non-redundant Role for PKN2 in Developmental Mesoderm Expansion

    PubMed Central

    Quétier, Ivan; Marshall, Jacqueline J.T.; Spencer-Dene, Bradley; Lachmann, Sylvie; Casamassima, Adele; Franco, Claudio; Escuin, Sarah; Worrall, Joseph T.; Baskaran, Priththivika; Rajeeve, Vinothini; Howell, Michael; Copp, Andrew J.; Stamp, Gordon; Rosewell, Ian; Cutillas, Pedro; Gerhardt, Holger; Parker, Peter J.; Cameron, Angus J.M.

    2016-01-01

    Summary In animals, the protein kinase C (PKC) family has expanded into diversely regulated subgroups, including the Rho family-responsive PKN kinases. Here, we describe knockouts of all three mouse PKN isoforms and reveal that PKN2 loss results in lethality at embryonic day 10 (E10), with associated cardiovascular and morphogenetic defects. The cardiovascular phenotype was not recapitulated by conditional deletion of PKN2 in endothelial cells or the developing heart. In contrast, inducible systemic deletion of PKN2 after E7 provoked collapse of the embryonic mesoderm. Furthermore, mouse embryonic fibroblasts, which arise from the embryonic mesoderm, depend on PKN2 for proliferation and motility. These cellular defects are reflected in vivo as dependence on PKN2 for mesoderm proliferation and neural crest migration. We conclude that failure of the mesoderm to expand in the absence of PKN2 compromises cardiovascular integrity and development, resulting in lethality. PMID:26774483

  2. Knockout of the PKN Family of Rho Effector Kinases Reveals a Non-redundant Role for PKN2 in Developmental Mesoderm Expansion.

    PubMed

    Quétier, Ivan; Marshall, Jacqueline J T; Spencer-Dene, Bradley; Lachmann, Sylvie; Casamassima, Adele; Franco, Claudio; Escuin, Sarah; Worrall, Joseph T; Baskaran, Priththivika; Rajeeve, Vinothini; Howell, Michael; Copp, Andrew J; Stamp, Gordon; Rosewell, Ian; Cutillas, Pedro; Gerhardt, Holger; Parker, Peter J; Cameron, Angus J M

    2016-01-26

    In animals, the protein kinase C (PKC) family has expanded into diversely regulated subgroups, including the Rho family-responsive PKN kinases. Here, we describe knockouts of all three mouse PKN isoforms and reveal that PKN2 loss results in lethality at embryonic day 10 (E10), with associated cardiovascular and morphogenetic defects. The cardiovascular phenotype was not recapitulated by conditional deletion of PKN2 in endothelial cells or the developing heart. In contrast, inducible systemic deletion of PKN2 after E7 provoked collapse of the embryonic mesoderm. Furthermore, mouse embryonic fibroblasts, which arise from the embryonic mesoderm, depend on PKN2 for proliferation and motility. These cellular defects are reflected in vivo as dependence on PKN2 for mesoderm proliferation and neural crest migration. We conclude that failure of the mesoderm to expand in the absence of PKN2 compromises cardiovascular integrity and development, resulting in lethality. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

  3. Evaluations of family by youth: do they vary as a function of family structure, gender, and birth order?

    PubMed

    Parish, T S

    1990-01-01

    In the present study, 334 youths evaluated their families by responding to the Personal Attribute Inventory for Children. An analysis of variance revealed no significant main effects due to respondents' birth order or gender, but did find a significant main effect due to family structure and a significant two-way interaction effect between respondents' family structure and gender. Specifically, males from divorced remarried families and females from divorced nonremarried families were found to evaluate their respective families significantly more negatively than did their counterparts from other familial configurations. Implications of these findings are discussed.

  4. Families living with chronic illness: beliefs about illness, family, and health care.

    PubMed

    Årestedt, Liselott; Benzein, Eva; Persson, Carina

    2015-05-01

    Beliefs can be described as the lenses through which we view the world. With emerging illness, beliefs about the illness experience become important for nurses to understand to enhance well-being and healing. The aim of this study was to illuminate illness beliefs of families living with chronic illness. A qualitative design was chosen, including repeated narrative research interviews with seven Swedish families living with chronic illness. Hermeneutic analysis was used to interpret the transcribed family interviews. The result described beliefs in families, both within and across families. Both core beliefs and secondary beliefs about illness, family, and health care were revealed. Illness beliefs have importance for how families respond to and manage situations that arise from their encounters with illness. Nurses have to make space for and listen to families' stories of illness to become aware of what beliefs may support and encourage family well-being and healing. The Illness Beliefs Model provides a touchstone whereby nurses can distinguish both individual and shared beliefs within families living with chronic illness and provide ideas for family intervention if needed. © The Author(s) 2015.

  5. Trematodes of the family Opisthorchiidae: a minireview

    PubMed Central

    King, Sandie

    2001-01-01

    Examination of the original descriptions of genera placed within the family Opisthorchiidae has revealed that only 33 of the original 43 genera are valid members of this family. Further study of these descriptions should also reveal that many of the subfamilies are also invalid. With reference to the original descriptions of these genera, and subsequent literature, a brief survey of the family has been compiled. Information on the spectrum of definitive hosts that these helminths parasitize is provided, as well as information on the life cycles, geographic distribution, and socioeconomic impacts of the family. More in-depth information is given on those species that are of particular medical importance; namely, Clonorchis sinensis, Opisthorchis viverrini, and O. felineus. The final aims of this review are to provide information on the entire genera of the family Opisthorchiidae, which will aid understanding of the phylogenetic relationships not only within the family, but also within the Class Trematoda. PMID:11590910

  6. Increasing organ donation rates by revealing recipient details to families of potential donors.

    PubMed

    Shaw, David; Gardiner, Dale

    2018-02-01

    Many families refuse to consent to donation from their deceased relatives or over-rule the consent given before death by the patient, but giving families more information about the potential recipients of organs could reduce refusal rates. In this paper, we analyse arguments for and against doing so, and conclude that this strategy should be attempted. While it would be impractical and possibly unethical to give details of actual potential recipients, generic, realistic information about the people who could benefit from organs should be provided to families before they make a decision about donation or attempt to over-rule it. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  7. Corporal punishment in rural Colombian families: prevalence, family structure and socio-demographic variables.

    PubMed

    González, Martha Rocío; Trujillo, Angela; Pereda, Noemí

    2014-05-01

    To reveal the prevalence of corporal punishment in a rural area of Colombia and its correlates to family structure and other socio-demographic variables. A survey about childrearing and childcare was developed for this study, including a specific question about corporal punishment that was developed based on the Conflict Tactics Scale (CTS). Family structure was categorized as follows, based on previous literature: 'nuclear family,' 'single parent' family, 'extended family,' 'simultaneous family' and 'composed family.' Forty-one percent of the parents surveyed admitted they had used corporal punishment of their children as a disciplinary strategy. The type of family structure, the number of children living at home, the age of the children, the gender of the parent who answered the survey, and the age and gender of the partner were significant predictors of corporal punishment. Family structure is an important variable in the understanding of corporal punishment, especially in regard to nuclear families that have a large number of children and parents who started their parental role early in life. Copyright © 2013 Elsevier Ltd. All rights reserved.

  8. Veritas Asteroid Family Still Holds Secrets?

    NASA Astrophysics Data System (ADS)

    Novakovic, B.

    2012-12-01

    Veritas asteroid family has been studied for about two decades. These studies have revealed many secrets, and a respectable knowledge about this family had been collected. Here I will present many of these results and review the current knowledge about the family. However, despite being extensively studied, Veritas family is still a mystery. This will be illustrated through the presentation of the most interesting open problems. Was there a secondary collision within this family? Does asteroid (490) Veritas belong to the family named after it? How large was the parent body of the family? Finally, some possible directions for future studies that aims to address these questions are discussed as well.

  9. Metabolic identification of germs isolated from ozonized water mixed with underground water

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Fransolet, G.; Villers, G.; Goyens, A.

    Twenty bacterial strains having shown a characteristic regrowth, starting from surface water treated and ozonized and then mixed with water of underground origin have been isolated. After verification of the purity of these strains, their preliminary identification has been attempted by utilizing more than 60 tests. The identification was limited to biochemical tests based on the following types of metabolism: energetic metabolism, carbohydrate metabolism, lipid metabolism, proteic metabolism, nutritional metabolism, and utilization of special media. In support of the results, one is able to affirm that the 20 strains belong to seven families consisting of Pseudomonadaceae, Bacillaceae, the group ofmore » Coryneformes, the Azotobactericeae, Micrococcaceae, Enterobacteriaceae and Vibrionaceae.« less

  10. Plesiomonas shigelloides Periprosthetic Knee Infection After Consumption of Raw Oysters.

    PubMed

    Hustedt, Joshua W; Ahmed, Sarim

    Periprosthetic infections are a leading cause of morbidity after total joint arthroplasty. Common pathogens include Staphylococcus aureus, streptococcus, enterococcus, Escherichia coli, and Pseudomonas aeruginosa. However, there are many cases in which rare bacteria are isolated. This case report describes a periprosthetic knee infection caused by Plesiomonas shigelloides. In the United States, P shigelloides and 2 other Vibrionaceae family members, Vibrio vulnificus and Vibrio parahaemolyticus, are most often contracted from eating raw oysters and shellfish. P shigelloides usually causes a self-limiting watery diarrhea, but in immunosuppressed people it can cause septicemia. In this case report, a chemically and biologically immunosuppressed man consumed raw oysters and developed P shigelloides septicemia and acute periprosthetic knee infection that required surgical intervention.

  11. Stress on the Job: How Family Literacy Program Directors Perceive Occupational Stress

    ERIC Educational Resources Information Center

    Sandlin, Jennifer A.; Chen, Chia-Yin

    2007-01-01

    Little research has examined stress among family literacy administrators, although studies in other contexts reveal occupational stress can lead to illness, distress, and organizational problems. This article presents findings from a recent study of stress among family literacy program directors in Texas. Findings reveal family literacy program…

  12. Comparative genome analysis of PHB gene family reveals deep evolutionary origins and diverse gene function.

    PubMed

    Di, Chao; Xu, Wenying; Su, Zhen; Yuan, Joshua S

    2010-10-07

    PHB (Prohibitin) gene family is involved in a variety of functions important for different biological processes. PHB genes are ubiquitously present in divergent species from prokaryotes to eukaryotes. Human PHB genes have been found to be associated with various diseases. Recent studies by our group and others have shown diverse function of PHB genes in plants for development, senescence, defence, and others. Despite the importance of the PHB gene family, no comprehensive gene family analysis has been carried to evaluate the relatedness of PHB genes across different species. In order to better guide the gene function analysis and understand the evolution of the PHB gene family, we therefore carried out the comparative genome analysis of the PHB genes across different kingdoms. The relatedness, motif distribution, and intron/exon distribution all indicated that PHB genes is a relatively conserved gene family. The PHB genes can be classified into 5 classes and each class have a very deep evolutionary origin. The PHB genes within the class maintained the same motif patterns during the evolution. With Arabidopsis as the model species, we found that PHB gene intron/exon structure and domains are also conserved during the evolution. Despite being a conserved gene family, various gene duplication events led to the expansion of the PHB genes. Both segmental and tandem gene duplication were involved in Arabidopsis PHB gene family expansion. However, segmental duplication is predominant in Arabidopsis. Moreover, most of the duplicated genes experienced neofunctionalization. The results highlighted that PHB genes might be involved in important functions so that the duplicated genes are under the evolutionary pressure to derive new function. PHB gene family is a conserved gene family and accounts for diverse but important biological functions based on the similar molecular mechanisms. The highly diverse biological function indicated that more research needs to be carried out

  13. A Tad pilus promotes the establishment and resistance of Vibrio vulnificus biofilms to mechanical clearance.

    PubMed

    Pu, Meng; Rowe-Magnus, Dean Allistair

    2018-01-01

    Vibrio vulnificus is autochthonous to estuaries and warm coastal waters. Infection occurs via open wounds or ingestion, where its asymptomatic colonization of seafood, most infamously oysters, provides a gateway into the human food chain. Colonization begins with initial surface contact, which is often mediated by bacterial surface appendages called pili. Type IV Tad pili are widely distributed in the Vibrionaceae, but evidence for a physiological role for these structures is scant. The V. vulnificus genome codes for three distinct tad loci. Recently, a positive correlation was demonstrated between the expression of tad-3 and the phenotypes of a V. vulnificus descendent (NT) that exhibited increased biofilm formation, auto-aggregation, and oyster colonization relative to its parent. However, the mechanism by which tad pilus expression promoted these phenotypes was not determined. Here, we show that deletion of the tad pilin gene ( flp ) altered the near-surface motility profile of NT cells from high curvature, orbital retracing patterns characteristic of cells actively probing the surface to low curvature traces indicative of wandering and diminished bacteria-surface interactions. The NT flp pilin mutant also exhibited decreased initial surface attachment, attenuated auto-aggregation and formed fragile biofilms that disintegrated under hydrodynamic flow. Thus, the tad-3 locus, designated iam , promoted i nitial surface attachment, a uto-aggregation and resistance to m echanical clearance of V. vulnificus biofilms. The prevalence of tad loci in the Vibrionaceae suggests that they may play equally important roles in other family members.

  14. Toxicity of bioactive and probiotic marine bacteria and their secondary metabolites in Artemia sp. and Caenorhabditis elegans as eukaryotic model organisms.

    PubMed

    Neu, Anna Katrin; Månsson, Maria; Gram, Lone; Prol-García, María J

    2014-01-01

    We have previously reported that some strains belonging to the marine Actinobacteria class, the Pseudoalteromonas genus, the Roseobacter clade, and the Photobacteriaceae and Vibrionaceae families produce both antibacterial and antivirulence compounds, and these organisms are interesting from an applied point of view as fish probiotics or as a source of pharmaceutical compounds. The application of either organisms or compounds requires that they do not cause any side effects, such as toxicity in eukaryotic organisms. The purpose of this study was to determine whether these bacteria or their compounds have any toxic side effects in the eukaryotic organisms Artemia sp. and Caenorhabditis elegans. Arthrobacter davidanieli WX-11, Pseudoalteromonas luteoviolacea S4060, P. piscicida S2049, P. rubra S2471, Photobacterium halotolerans S2753, and Vibrio coralliilyticus S2052 were lethal to either or both model eukaryotes. The toxicity of P. luteoviolacea S4060 could be related to the production of the antibacterial compound pentabromopseudilin, while the adverse effect observed in the presence of P. halotolerans S2753 and V. coralliilyticus S2052 could not be explained by the production of holomycin nor andrimid, the respective antibiotic compounds in these organisms. In contrast, the tropodithietic acid (TDA)-producing bacteria Phaeobacter inhibens DSM17395 and Ruegeria mobilis F1926 and TDA itself had no adverse effect on the target organisms. These results reaffirm TDA-producing Roseobacter bacteria as a promising group to be used as probiotics in aquaculture, whereas Actinobacteria, Pseudoalteromonas, Photobacteriaceae, and Vibrionaceae should be used with caution.

  15. Residential Instability, Family Support, and Parent-Child Relationships Among Ethnically Diverse Urban Families.

    PubMed

    Riina, Elizabeth M; Lippert, Adam; Brooks-Gunn, Jeanne

    2016-08-01

    From a social disorganization standpoint, neighborhood residential instability potentially brings negative consequences to parent-child relationship qualities, but family social support and racial/ethnic identity may modify this association. Using data (n = 3,116) from the Project on Human Development in Chicago Neighborhoods, this study examines associations between neighborhood residential instability and parent-child warmth and conflict, whether family social support moderates associations between residential instability and parent-child relationships, and variation by race/ethnicity. Multilevel models reveal that residential instability undermines parent-child relationship qualities, particularly for non-White individuals. Family support is a protective factor for families in less stable neighborhoods, and specifically buffers the association between neighborhood residential instability and reduced parent-child warmth. Among Hispanics, family support mitigates the association between residential instability and heightened parent-child conflict. Findings highlight residential instability as a detriment to parent-child relationships; families in unstable neighborhoods may benefit from family social support.

  16. Residential Instability, Family Support, and Parent–Child Relationships Among Ethnically Diverse Urban Families

    PubMed Central

    Riina, Elizabeth M.; Lippert, Adam; Brooks-Gunn, Jeanne

    2016-01-01

    From a social disorganization standpoint, neighborhood residential instability potentially brings negative consequences to parent–child relationship qualities, but family social support and racial/ethnic identity may modify this association. Using data (n = 3,116) from the Project on Human Development in Chicago Neighborhoods, this study examines associations between neighborhood residential instability and parent–child warmth and conflict, whether family social support moderates associations between residential instability and parent–child relationships, and variation by race/ethnicity. Multilevel models reveal that residential instability undermines parent–child relationship qualities, particularly for non-White individuals. Family support is a protective factor for families in less stable neighborhoods, and specifically buffers the association between neighborhood residential instability and reduced parent–child warmth. Among Hispanics, family support mitigates the association between residential instability and heightened parent–child conflict. Findings highlight residential instability as a detriment to parent–child relationships; families in unstable neighborhoods may benefit from family social support. PMID:27695136

  17. GRID and docking analyses reveal a molecular basis for flavonoid inhibition of Src family kinase activity.

    PubMed

    Wright, Bernice; Watson, Kimberly A; McGuffin, Liam J; Lovegrove, Julie A; Gibbins, Jonathan M

    2015-11-01

    Flavonoids reduce cardiovascular disease risk through anti-inflammatory, anti-coagulant and anti-platelet actions. One key flavonoid inhibitory mechanism is blocking kinase activity that drives these processes. Flavonoids attenuate activities of kinases including phosphoinositide-3-kinase, Fyn, Lyn, Src, Syk, PKC, PIM1/2, ERK, JNK and PKA. X-ray crystallographic analyses of kinase-flavonoid complexes show that flavonoid ring systems and their hydroxyl substitutions are important structural features for their binding to kinases. A clearer understanding of structural interactions of flavonoids with kinases is necessary to allow construction of more potent and selective counterparts. We examined flavonoid (quercetin, apigenin and catechin) interactions with Src family kinases (Lyn, Fyn and Hck) applying the Sybyl docking algorithm and GRID. A homology model (Lyn) was used in our analyses to demonstrate that high-quality predicted kinase structures are suitable for flavonoid computational studies. Our docking results revealed potential hydrogen bond contacts between flavonoid hydroxyls and kinase catalytic site residues. Identification of plausible contacts indicated that quercetin formed the most energetically stable interactions, apigenin lacked hydroxyl groups necessary for important contacts and the non-planar structure of catechin could not support predicted hydrogen bonding patterns. GRID analysis using a hydroxyl functional group supported docking results. Based on these findings, we predicted that quercetin would inhibit activities of Src family kinases with greater potency than apigenin and catechin. We validated this prediction using in vitro kinase assays. We conclude that our study can be used as a basis to construct virtual flavonoid interaction libraries to guide drug discovery using these compounds as molecular templates. Crown Copyright © 2015. Published by Elsevier Inc. All rights reserved.

  18. Family climates: family factors specific to disturbed eating and bulimia nervosa.

    PubMed

    Laliberté, M; Boland, F J; Leichner, P

    1999-09-01

    More than a decade of research has characterized the families of individuals with bulimia and bulimia anorexia (Anorexia Nervosa, Binge/Purging Type) as less expressive, less cohesive, and experiencing more conflicts than normal control families. This two-part study investigated variables believed more directly related to disturbed eating and bulimia as contributing to a "family climate for eating disorders." In Study 1. a nonclinical sample of 324 women who had just left home for college and a sample of 121 mothers evaluated their families. Principal-components analyses revealed the same factor structure for both students and mothers, with Family Body Satisfaction, Family Social Appearance Orientation, and Family Achievement Emphasis loading together, representing the hypothesized family climate for eating disorders: the remaining variables loaded with the more traditional family process variables (conflict, cohesion, expressiveness), representing a more general family dysfunction. As predicted, the family climate for eating disorders factor score was a more powerful predictor of disturbed eating. Study 2 extended these findings into a clin ical population, examining whether the family climate for eating disorders variables would distinguish individuals with bulimia from both depressed and healthy controls. Groups of eating-disordered patients (n = 40) and depressed (n = 17) and healthy (n = 27) controls completed family measures. The eating-disordered group scored significantly higher on family climate variables than control groups. Family process variables distinguished clinical groups (depressed and eating disordered) from healthy controls, but not from one another. Controlling for depression removed group differences on family process variables, but family climate variables continued to distinguish the eating-disordered group from both control groups. Indications for further research are discussed.

  19. Counseling Gay and Lesbian Families: Theoretical Considerations

    ERIC Educational Resources Information Center

    Adams, Jennifer L.; Jaques, Jodi D.; May, Kathleen M.

    2004-01-01

    There are an estimated 2 to 10 million gay and lesbian parents raising from 6 to 14 million children in the United States. Research has revealed few measurable differences between gay and lesbian families and heterosexual families. However, as a result of living in a homophobic and heterosexist society, gay and lesbian families face unique…

  20. Affective Interchange in Families with a Schizophrenic Son.

    ERIC Educational Resources Information Center

    Angermeyer, Matthias C.; And Others

    Sixty half-hour family discussions generated by the "revealed differences technique" were analyzed to determine the emotional intensity and quality (friendliness/attacking) of messages between individuals in families with schizophrenic and "normal" sons. Thirty families in each situation (schizophrenic/normal) were matched for comparison. Both…

  1. Conformational Dynamics of a Y-Family DNA Polymerase during Substrate Binding and Catalysis As Revealed by Interdomain Förster Resonance Energy Transfer

    PubMed Central

    2015-01-01

    Numerous kinetic, structural, and theoretical studies have established that DNA polymerases adjust their domain structures to enclose nucleotides in their active sites and then rearrange critical active site residues and substrates for catalysis, with the latter conformational change acting to kinetically limit the correct nucleotide incorporation rate. Additionally, structural studies have revealed a large conformational change between the apoprotein and the DNA–protein binary state for Y-family DNA polymerases. In previous studies [Xu, C., Maxwell, B. A., Brown, J. A., Zhang, L., and Suo, Z. (2009) PLoS Biol.7, e1000225], a real-time Förster resonance energy transfer (FRET) method was developed to monitor the global conformational transitions of DNA polymerase IV from Sulfolobus solfataricus (Dpo4), a prototype Y-family enzyme, during nucleotide binding and incorporation by measuring changes in distance between locations on the enzyme and the DNA substrate. To elucidate further details of the conformational transitions of Dpo4 during substrate binding and catalysis, in this study, the real-time FRET technique was used to monitor changes in distance between various pairs of locations in the protein itself. In addition to providing new insight into the conformational changes as revealed in previous studies, the results here show that the previously described conformational change between the apo and DNA-bound states of Dpo4 occurs in a mechanistic step distinct from initial formation or dissociation of the binary complex of Dpo4 and DNA. PMID:24568554

  2. Structural and Biochemical Analyses of Glycoside Hydrolase Families 5 and 26 β-(1,4)-Mannanases from Podospora anserina Reveal Differences upon Manno-oligosaccharide Catalysis*

    PubMed Central

    Couturier, Marie; Roussel, Alain; Rosengren, Anna; Leone, Philippe; Stålbrand, Henrik; Berrin, Jean-Guy

    2013-01-01

    The microbial deconstruction of the plant cell wall is a key biological process that is of increasing importance with the development of a sustainable biofuel industry. The glycoside hydrolase families GH5 (PaMan5A) and GH26 (PaMan26A) endo-β-1,4-mannanases from the coprophilic ascomycete Podospora anserina contribute to the enzymatic degradation of lignocellulosic biomass. In this study, P. anserina mannanases were further subjected to detailed comparative analysis of their substrate specificities, active site organization, and transglycosylation capacity. Although PaMan5A displays a classical mode of action, PaMan26A revealed an atypical hydrolysis pattern with the release of mannotetraose and mannose from mannopentaose resulting from a predominant binding mode involving the −4 subsite. The crystal structures of PaMan5A and PaMan26A were solved at 1.4 and 2.85 Å resolution, respectively. Analysis of the PaMan26A structure supported strong interaction with substrate at the −4 subsite mediated by two aromatic residues Trp-244 and Trp-245. The PaMan26A structure appended to its family 35 carbohydrate binding module revealed a short and proline-rich rigid linker that anchored together the catalytic and the binding modules. PMID:23558681

  3. Families Speak to Early Childhood Teachers: Impressions and Expectations

    ERIC Educational Resources Information Center

    Thomas, Suzanne B.; Dykes, Frank

    2013-01-01

    Investigators interviewed 54 families of children with disabilities ages seven through nine to examine the expectations that families of young children hold for their child's teacher. Responses themes were examined to determine if a pattern existed between families of different groups of children. Results reveal many families expressed true…

  4. Family Influences on Racial Identity among African American Youth

    ERIC Educational Resources Information Center

    Townsend, Tiffany; Lanphier, Erin

    2007-01-01

    The purpose of this study was to examine the influence of parental efficacy, family coping, and adaptive family functioning on the development of racial identity among African American youth. Fifty-two African American parent-child dyads were participants. Results of a hierarchical regression revealed family adaptability and family cognitive…

  5. Positive parenting, family cohesion, and child social competence among immigrant Latino families.

    PubMed

    Leidy, Melinda S; Guerra, Nancy G; Toro, Rosa I

    2010-06-01

    The relation between positive parenting, family cohesion, and child social competence was examined among Latino families (predominantly from Mexico) who were recent immigrants to the United States. A mixed method study was conducted, including both pre- and post-test self-reported surveys (9-month interval) and qualitative data from focus groups. A total of 282 parents and 282 children (ages 9-12) participated in the survey study. Results at post-test follow-up indicated that family cohesion predicted improvements in child social problem-solving skills and social self-efficacy, and positive parenting predicted improvements in child social self-efficacy. A total of 12 mothers participated in the focus group study that was designed to explore barriers to positive parenting and family cohesion in this population. Results from focus groups revealed four major themes impacting parenting and family cohesion: (a) acculturation differences between parents and children and the resulting power imbalance; (b) difficulty getting involved in their child's education; (c) loss of extended family; and (d) discrimination against immigrants and legal status. The implications for family support programs for immigrant Latino families and their children are discussed. (c) 2010 APA, all rights reserved.

  6. Examining the impact of child parent relationship therapy (CPRT) on family functioning.

    PubMed

    Cornett, Nick; Bratton, Sue C

    2014-07-01

    Research supports that child parent relationship therapy (CPRT), a filial therapy approach, has strong effects on participating parents and children. Some speculate that filial therapy improves the family system; however, minimal research exists to support this claim. Using a single-case design, researchers examined CPRT's impact on the functioning of 8 families. Results revealed that 6 families experienced statistically significant improvements in targeted areas of family functioning. Results from self-reported measures indicated that 7 families improved in family satisfaction, 4 in cohesion, 3 in communication, and 1 in flexibility. Observational measures also revealed improvements: 5 families in flexibility, 4 families in cohesion, and 4 families in communication. The results support that the benefits of CPRT may extend to the family system. © 2013 American Association for Marriage and Family Therapy.

  7. Evolution of a Vegetarian Vibrio: Metabolic Specialization of V. breoganii to Macroalgal Substrates.

    PubMed

    Corzett, Christopher H; Elsherbini, Joseph; Chien, Diana M; Hehemann, Jan-Hendrik; Henschel, Andreas; Preheim, Sarah P; Yu, Xiaoqian; Alm, Eric J; Polz, Martin F

    2018-04-09

    While most Vibrionaceae are considered generalists that thrive on diverse substrates including animal-derived material, we show that V. breoganii has specialized for the consumption of marine macroalgae-derived substrates. Genomic and physiological comparison of V. breoganii with other Vibrionaceae isolates revealed the ability to degrade alginate, laminarin, and additional glycans present in algal cell walls. Moreover, the widely conserved ability to hydrolyze animal-derived polymers including chitin and glycogen was lost along with the ability to efficiently grow on a variety of amino acids. Ecological data showing associations with particulate algal material but not zooplankton further support this shift in niche preference, and the loss of motility appears to reflect a sessile macroalgal-associated lifestyle. Together, these findings indicate algal polysaccharides have become a major source of carbon and energy in V. breoganii , and these ecophysiological adaptations may facilitate transient commensal associations with marine invertebrates that feed on algae. Importance: Vibrios are often considered animal specialists or generalists. Here we show that Vibrio breoganii has undergone massive genomic changes to become specialized on algal carbohydrates. Accompanying genomic changes include massive gene import and loss. These vibrios may help better understand how algal biomass is degraded in the environment and may serve as a blueprint how to optimize conversion of algae to biofuels. Copyright © 2018 American Society for Microbiology.

  8. Ten adaptive strategies for family and work balance: advice from successful families.

    PubMed

    Haddock, S A; Zimmerman, T S; Ziemba, S J; Current, L R

    2001-10-01

    Despite negative media images and social dynamics insensitive to the lives of many dual-career couples, research shows that these families are largely healthy and thriving. In this study, we investigated the adaptive strategies of middle-class, dual-earner couples (N = 47) with children that are successfully managing family and work. Guided by grounded-theory methodology, analysis of interview data revealed that these successful couples structured their lives around 10 major strategies: Valuing family, striving for partnership, deriving meaning from work, maintaining work boundaries, focusing and producing at work, taking pride in dual earning, prioritizing family fun, living simply, making decisions proactively, and valuing time. Each adaptive strategy is defined and illustrated through the participants' own words. Clinical applications for therapists working with dual-earner couples are offered.

  9. Quantitative Phosphoproteomics Reveals SLP-76 Dependent Regulation of PAG and Src Family Kinases in T Cells

    PubMed Central

    Cao, Lulu; Ding, Yiyuan; Hung, Norris; Yu, Kebing; Ritz, Anna; Raphael, Benjamin J.; Salomon, Arthur R.

    2012-01-01

    The SH2-domain-containing leukocyte protein of 76 kDa (SLP-76) plays a critical scaffolding role in T cell receptor (TCR) signaling. As an adaptor protein that contains multiple protein-binding domains, SLP-76 interacts with many signaling molecules and links proximal receptor stimulation to downstream effectors. The function of SLP-76 in TCR signaling has been widely studied using the Jurkat human leukaemic T cell line through protein disruption or site-directed mutagenesis. However, a wide-scale characterization of SLP-76-dependant phosphorylation events is still lacking. Quantitative profiling of over a hundred tyrosine phosphorylation sites revealed new modes of regulation of phosphorylation of PAG, PI3K, and WASP while reconfirming previously established regulation of Itk, PLCγ, and Erk phosphorylation by SLP-76. The absence of SLP-76 also perturbed the phosphorylation of Src family kinases (SFKs) Lck and Fyn, and subsequently a large number of SFK-regulated signaling molecules. Altogether our data suggests unique modes of regulation of positive and negative feedback pathways in T cells by SLP-76, reconfirming its central role in the pathway. PMID:23071622

  10. Quantitative phosphoproteomics reveals SLP-76 dependent regulation of PAG and Src family kinases in T cells.

    PubMed

    Cao, Lulu; Ding, Yiyuan; Hung, Norris; Yu, Kebing; Ritz, Anna; Raphael, Benjamin J; Salomon, Arthur R

    2012-01-01

    The SH2-domain-containing leukocyte protein of 76 kDa (SLP-76) plays a critical scaffolding role in T cell receptor (TCR) signaling. As an adaptor protein that contains multiple protein-binding domains, SLP-76 interacts with many signaling molecules and links proximal receptor stimulation to downstream effectors. The function of SLP-76 in TCR signaling has been widely studied using the Jurkat human leukaemic T cell line through protein disruption or site-directed mutagenesis. However, a wide-scale characterization of SLP-76-dependant phosphorylation events is still lacking. Quantitative profiling of over a hundred tyrosine phosphorylation sites revealed new modes of regulation of phosphorylation of PAG, PI3K, and WASP while reconfirming previously established regulation of Itk, PLCγ, and Erk phosphorylation by SLP-76. The absence of SLP-76 also perturbed the phosphorylation of Src family kinases (SFKs) Lck and Fyn, and subsequently a large number of SFK-regulated signaling molecules. Altogether our data suggests unique modes of regulation of positive and negative feedback pathways in T cells by SLP-76, reconfirming its central role in the pathway.

  11. Family factors in end-of-life decision-making: family conflict and proxy relationship.

    PubMed

    Parks, Susan Mockus; Winter, Laraine; Santana, Abbie J; Parker, Barbara; Diamond, James J; Rose, Molly; Myers, Ronald E

    2011-02-01

    Few studies have examined proxy decision-making regarding end-of-life treatment decisions. Proxy accuracy is defined as whether proxy treatment choices are consistent with the expressed wishes of their index elder. The purpose of this study was to examine proxy accuracy in relation to two family factors that may influence proxy accuracy: perceived family conflict and type of elder-proxy relationship. Telephone interviews with 202 community-dwelling elders and their proxy decision makers were conducted including the Life-Support Preferences Questionnaire (LSPQ), and a measure of family conflict, and sociodemographic characteristics, including type of relationship. Elder-proxy accuracy was associated with the type of elder-proxy relationship. Adult children demonstrated the lowest elder-proxy accuracy and spousal proxies the highest elder-proxy accuracy. Elder-proxy accuracy was associated with family conflict. Proxies reporting higher family conflict had lower elder-proxy accuracy. No interaction between family conflict and relationship type was revealed. Spousal proxies were more accurate in their substituted judgment than adult children, and proxies who perceive higher degree of family conflict tended to be less accurate than those with lower family conflict. Health care providers should be aware of these family factors when discussing advance care planning.

  12. The Family Dynamics of Intellectual Development.

    ERIC Educational Resources Information Center

    Zajonc, R. B.

    2001-01-01

    Birth order effects on intellectual performance show both positive and negative results. Considers the intellectual aspects of siblings' changing environments, explaining that birth order and family size effects depend crucially on the age at which children are tested. Within-family data conceal patterns of aggregate effects that are revealed by…

  13. Family caring strategies in neutropenia.

    PubMed

    Eggenberger, Sandra K; Krumwiede, Norma; Meiers, Sonja J; Bliesmer, Mary; Earle, Patricia

    2004-12-01

    Aggressive chemotherapy protocols result in neutropenia in approximately half of all patients receiving chemotherapy. Thus, neutropenia continues to be a significant and potentially life-threatening side effect of treatment, even with use of colony-stimulating factors. Families of patients with neutropenia often provide the primary healing environment because most chemotherapy protocols are managed on an outpatient basis. To learn about the family's experience of managing chemotherapy-induced neutropenia (CIN), a grounded-theory methodology was used to analyze data from seven families. The central theme revealed by these families was "turbulent waiting with intensified connections." This meant that when families had a sense of greater vulnerability in response to the waiting after diagnosis of CIN, they connected intensely with each other and healthcare providers. Families reported that connections with nurses became more significant when neutropenia interrupted chemotherapy. Families also developed family caring strategies to manage this period of waiting for the chemotherapy to resume. These strategies included family inquiry, family vigilance, and family balancing. Nurses need to be aware of approaches to support the family's ability to manage CIN. Interventions and approaches constructed from the perspective of a family-professional partnership will enhance the family cancer experience as well as ongoing family growth and function.

  14. On the validity of within-nuclear-family genetic association analysis in samples of extended families.

    PubMed

    Bureau, Alexandre; Duchesne, Thierry

    2015-12-01

    Splitting extended families into their component nuclear families to apply a genetic association method designed for nuclear families is a widespread practice in familial genetic studies. Dependence among genotypes and phenotypes of nuclear families from the same extended family arises because of genetic linkage of the tested marker with a risk variant or because of familial specificity of genetic effects due to gene-environment interaction. This raises concerns about the validity of inference conducted under the assumption of independence of the nuclear families. We indeed prove theoretically that, in a conditional logistic regression analysis applicable to disease cases and their genotyped parents, the naive model-based estimator of the variance of the coefficient estimates underestimates the true variance. However, simulations with realistic effect sizes of risk variants and variation of this effect from family to family reveal that the underestimation is negligible. The simulations also show the greater efficiency of the model-based variance estimator compared to a robust empirical estimator. Our recommendation is therefore, to use the model-based estimator of variance for inference on effects of genetic variants.

  15. Work-family fit: the impact of emergency medical services work on the family system.

    PubMed

    Roth, Sheila Gillespie; Moore, Crystal Dea

    2009-01-01

    The stress associated with a career in emergency medical services (EMS) can impact the work-family fit and function of the family system for EMS personnel. Little research has been conducted on how the demands associated with a career in EMS influences family life. Objective. To describe salient EMS work factors that can impact the family system. Twelve family members (11 spouses and one parent) of EMS workers were interviewed using a semistructured qualitative interview guide that explored issues related to their family members' work that could impact the quality of family life. Using a phenomenological approach, transcribed interview data were examined for themes that illuminated factors that influence work-family fit. Data analysis revealed that shift work impacts numerous aspects of family life, including marital and parental roles, leisure and social opportunities, and home schedules and rhythms. Furthermore, families coped with challenges associated with their loved one's EMS work through negotiating role responsibilities, developing their own interests, giving their family member "space," and providing support by listening and helping the EMS worker process his or her reactions to difficult work. In addition, family members reported concern over their EMS worker's physical safety. Implications from the data are discussed vis-a-vis the work-family fit and family systems models. Education, communication, support systems, and individual interests are key ways to promote a healthy work-family fit.

  16. Father Influences on Employed Mothers' Work-Family Balance

    ERIC Educational Resources Information Center

    Fagan, Jay; Press, Julie

    2008-01-01

    This study employed the ecological systems perspective and gender ideology theory to examine the influence of fathers' paid work-family crossover and family involvement on self-reports of work-family balance by employed mothers with children under the age of 13 (N = 179). Multiple regression analyses revealed that fathers' crossover factors had a…

  17. The role of culture and family in mental illness.

    PubMed

    Jaschke, V; Doi, T

    1989-03-01

    A case is presented of a 25-year-old Oriental man who shocked his family by revealing his homosexuality, choosing atheism over his family's traditional Christian religion, and attempting suicide. The discussant examines the cultural implications of the family's reactions to the patient's clinical picture.

  18. Knock-down of transcript abundance of a family of Kunitz proteinase inhibitor genes in white clover (Trifolium repens) reveals a redundancy and diversity of gene function.

    PubMed

    Islam, Afsana; Leung, Susanna; Burgess, Elisabeth P J; Laing, William A; Richardson, Kim A; Hofmann, Rainer W; Dijkwel, Paul P; McManus, Michael T

    2015-12-01

    The transcriptional regulation of four phylogenetically distinct members of a family of Kunitz proteinase inhibitor (KPI) genes isolated from white clover (Trifolium repens; designated Tr-KPI1, Tr-KPI2, Tr-KPI4 and Tr-KPI5) has been investigated to determine their wider functional role. The four genes displayed differential transcription during seed germination, and in different tissues of the mature plant, and transcription was also ontogenetically regulated. Heterologous over-expression of Tr-KPI1, Tr-KPI2, Tr-KPI4 and Tr-KPI5 in Nicotiana tabacum retarded larval growth of the herbivore Spodoptera litura, and an increase in the transcription of the pathogenesis-related genes PR1 and PR4 was observed in the Tr-KPI1 and Tr-KPI4 over-expressing lines. RNA interference (RNAi) knock-down lines in white clover displayed significantly altered vegetative growth phenotypes with inhibition of shoot growth and a stimulation of root growth, while knock-down of Tr-KPI1, Tr-KPI2 and Tr-KPI5 transcript abundance also retarded larval growth of S. litura. Examination of these RNAi lines revealed constitutive stress-associated phenotypes as well as altered transcription of cellular signalling genes. These results reveal a functional redundancy across members of the KPI gene family. Further, the regulation of transcription of at least one member of the family, Tr-KPI2, may occupy a central role in the maintenance of a cellular homeostasis. © 2015 The Authors. New Phytologist © 2015 New Phytologist Trust.

  19. Growth Kinetics of Extremely Halophilic Archaea (Family Halobacteriaceae) as Revealed by Arrhenius Plots

    PubMed Central

    Robinson, Jessie L.; Pyzyna, Brandy; Atrasz, Rachelle G.; Henderson, Christine A.; Morrill, Kira L.; Burd, Anna Mae; DeSoucy, Erik; Fogleman, Rex E.; Naylor, John B.; Steele, Sarah M.; Elliott, Dawn R.; Leyva, Kathryn J.; Shand, Richard F.

    2005-01-01

    Members of the family Halobacteriaceae in the domain Archaea are obligate extreme halophiles. They occupy a variety of hypersaline environments, and their cellular biochemistry functions in a nearly saturated salty milieu. Despite extensive study, a detailed analysis of their growth kinetics is missing. To remedy this, Arrhenius plots for 14 type species of the family were generated. These organisms had maximum growth temperatures ranging from 49 to 58°C. Nine of the organisms exhibited a single temperature optimum, while five grew optimally at more than one temperature. Generation times at these optimal temperatures ranged from 1.5 h (Haloterrigena turkmenica) to 3.0 h (Haloarcula vallismortis and Halorubrum saccharovorum). All shared an inflection point at 31 ± 4°C, and the temperature characteristics for 12 of the 14 type species were nearly parallel. The other two species (Natronomonas pharaonis and Natronorubrum bangense) had significantly different temperature characteristics, suggesting that the physiology of these strains is different. In addition, these data show that the type species for the family Halobacteriaceae share similar growth kinetics and are capable of much faster growth at higher temperatures than those previously reported. PMID:15659670

  20. Family Patterns of Gender Role Attitudes

    PubMed Central

    Marks, Jaime; Bun, Lam Chun; McHale, Susan M.

    2012-01-01

    Study goals were to identify family patterns of gender role attitudes, to examine the conditions under which these patterns emerged, and to assess the implications of gender attitude patterns for family conflict. Participants were mothers, fathers, and first- and second-born adolescents from 358 White, working and middle-class US families. Results of cluster analysis revealed three gender role attitude patterns: egalitarian parents and children, traditional parents and children, and a divergent pattern, with parents more traditional and children more egalitarian. Mixed-model ANOVAs indicated that these family patterns were related to socioeconomic status, parents' time spent in gendered household tasks and with children, and the gender constellation of the sibling dyad. The traditional family group reported the most family conflict. PMID:22308059

  1. Adaptation and resiliency in Swedish families.

    PubMed

    Kiehl, Ermalynn M; Carson, David K; Dykes, Anna-Karin

    2007-09-01

    A longitudinal research project began in 1993 of Norwegian, Swedish and American mothers' perception of her family's dynamics and adaptation during childbearing and childrearing. Results indicated that Swedish mothers adapted better than other mothers. In 2003, a mixed design study was conducted with original Swedish mothers that aimed to describe the experience of motherhood, the meaning mothers attached to events in their lives that made adaptation necessary, and ways in which they achieved adaptation. Fourteen mothers completed quantitative instruments and 13 of those mothers were interviewed. Audiotaped interviews were transcribed and analysed for themes using a protocol based on a model of family resiliency. Quantitative findings revealed statistically significant findings in areas of children, mother's work outside the home and families in which a major illness had occurred. Qualitative findings revealed that protective factors far outweighed vulnerability and risk factors. Mothers' satisfaction with life manifested itself in love of home, contentment with employment, fulfillment from an active and healthy life and support from a society that provides a wide range of social benefits for the family. Vulnerability occurred primarily when mothers were tired, lacked personal time or someone in the family was experiencing a serious illness. Results of this study enhance the scholarly scientific knowledge about the uniqueness of Swedish mothers, and increased understanding of family dynamics and adaptation. Many of the findings relate in some way to overall social benefits and supports available for families.

  2. The Structure of RdDddP from Roseobacter denitrificans Reveals That DMSP Lyases in the DddP-Family Are Metalloenzymes

    PubMed Central

    Hehemann, Jan-Hendrik; Law, Adrienne; Redecke, Lars; Boraston, Alisdair B.

    2014-01-01

    Marine microbes degrade dimethylsulfoniopropionate (DMSP), which is produced in large quantities by marine algae and plants, with DMSP lyases into acrylate and the gas dimethyl sulfide (DMS). Approximately 10% of the DMS vents from the sea into the atmosphere and this emission returns sulfur, which arrives in the sea through rivers and runoff, back to terrestrial systems via clouds and rain. Despite their key role in this sulfur cycle DMSP lyases are poorly understood at the molecular level. Here we report the first X-ray crystal structure of the putative DMSP lyase RdDddP from Roseobacter denitrificans, which belongs to the abundant DddP family. This structure, determined to 2.15 Å resolution, shows that RdDddP is a homodimeric metalloprotein with a binuclear center of two metal ions located 2.7 Å apart in the active site of the enzyme. Consistent with the crystallographic data, inductively coupled plasma mass spectrometry (ICP-MS) and total reflection X-ray fluorescence (TRXF) revealed the bound metal species to be primarily iron. A 3D structure guided analysis of environmental DddP lyase sequences elucidated the critical residues for metal binding are invariant, suggesting all proteins in the DddP family are metalloenzymes. PMID:25054772

  3. Adolescents’ Perceptions of Family Belonging in Stepfamilies

    PubMed Central

    King, Valarie; Boyd, Lisa M.; Thorsen, Maggie L.

    2015-01-01

    Prior research has established that adolescents’ perceptions of family belonging are associated with a range of well-being indicators and that adolescents in stepfamilies report lower levels of family belonging than adolescents in two-biological-parent families. Yet, we know little regarding what factors are associated with adolescents’ perceptions of family belonging in stepfamilies. Guided by family systems theory, the authors addressed this issue by using nationally representative data (Add Health) to examine the associations between family characteristics and adolescents’ perceptions of family belonging in stepfather families (N = 2,085). Results from structural equation models revealed that both the perceived quality of the stepfather–adolescent relationship, and in particular the perceived quality of the mother–adolescent relationship, were the factors most strongly associated with feelings of family belonging. PMID:26166845

  4. DNA sequence-level analyses reveal potential phenotypic modifiers in a large family with psychiatric disorders.

    PubMed

    Ryan, Niamh M; Lihm, Jayon; Kramer, Melissa; McCarthy, Shane; Morris, Stewart W; Arnau-Soler, Aleix; Davies, Gail; Duff, Barbara; Ghiban, Elena; Hayward, Caroline; Deary, Ian J; Blackwood, Douglas H R; Lawrie, Stephen M; McIntosh, Andrew M; Evans, Kathryn L; Porteous, David J; McCombie, W Richard; Thomson, Pippa A

    2018-06-07

    Psychiatric disorders are a group of genetically related diseases with highly polygenic architectures. Genome-wide association analyses have made substantial progress towards understanding the genetic architecture of these disorders. More recently, exome- and whole-genome sequencing of cases and families have identified rare, high penetrant variants that provide direct functional insight. There remains, however, a gap in the heritability explained by these complementary approaches. To understand how multiple genetic variants combine to modify both severity and penetrance of a highly penetrant variant, we sequenced 48 whole genomes from a family with a high loading of psychiatric disorder linked to a balanced chromosomal translocation. The (1;11)(q42;q14.3) translocation directly disrupts three genes: DISC1, DISC2, DISC1FP and has been linked to multiple brain imaging and neurocognitive outcomes in the family. Using DNA sequence-level linkage analysis, functional annotation and population-based association, we identified common and rare variants in GRM5 (minor allele frequency (MAF) > 0.05), PDE4D (MAF > 0.2) and CNTN5 (MAF < 0.01) that may help explain the individual differences in phenotypic expression in the family. We suggest that whole-genome sequencing in large families will improve the understanding of the combined effects of the rare and common sequence variation underlying psychiatric phenotypes.

  5. The Invisible Mirror: In-Home Family Therapy and Supervision.

    ERIC Educational Resources Information Center

    Zarski, John J.; And Others

    1991-01-01

    Discusses home-based family therapy intervention programs, designed as a preventive strategy for multiproblem, at-risk families in mental health agencies. Maintains that a review of the literature reveals little information on clinical supervision, which is a major component of home-based family intervention. Focuses on providing an alternative…

  6. Intergenerational Value Orientation and Psychopathology in Greek-American Families.

    ERIC Educational Resources Information Center

    Papajohn, John

    1979-01-01

    Examines the effect of culture change on the mental health of Greek-American families. A sample of families with second generation schizophrenic members and a sample of families without a history of manifest psychopathology are compared. Analysis reveals intergenerational value differences in those two groups as they confront acculturation…

  7. Genome-Wide Association Study Reveals Greater Polygenic Loading for Schizophrenia in Cases With a Family History of Illness

    PubMed Central

    Bigdeli, Tim B.; Ripke, Stephan; Bacanu, Silviu-Alin; Lee, Sang Hong; Wray, Naomi R.; Gejman, Pablo V.; Rietschel, Marcella; Cichon, Sven; St Clair, David; Corvin, Aiden; Kirov, George; McQuillin, Andrew; Gurling, Hugh; Rujescu, Dan; Andreassen, Ole A.; Werge, Thomas; Blackwood, Douglas H.R.; Pato, Carlos N.; Pato, Michele T.; Malhotra, Anil K.; O’Donovan, Michael C.; Kendler, Kenneth S.; Fanous, Ayman H.

    2018-01-01

    Genome-wide association studies (GWAS) of schizophrenia have yielded more than 100 common susceptibility variants, and strongly support a substantial polygenic contribution of a large number of small allelic effects. It has been hypothesized that familial schizophrenia is largely a consequence of inherited rather than environmental factors. We investigated the extent to which familiality of schizophrenia is associated with enrichment for common risk variants detectable in a large GWAS. We analyzed single nucleotide polymorphism (SNP) data for cases reporting a family history of psychotic illness (N = 978), cases reporting no such family history (N = 4,503), and unscreened controls (N = 8,285) from the Psychiatric Genomics Consortium (PGC1) study of schizophrenia. We used a multinomial logistic regression approach with model-fitting to detect allelic effects specific to either family history subgroup. We also considered a polygenic model, in which we tested whether family history positive subjects carried more schizophrenia risk alleles than family history negative subjects, on average. Several individual SNPs attained suggestive but not genome-wide significant association with either family history subgroup. Comparison of genome-wide polygenic risk scores based on GWAS summary statistics indicated a significant enrichment for SNP effects among family history positive compared to family history negative cases (Nagelkerke’s R2 = 0.0021; P = 0.00331; P-value threshold <0.4). Estimates of variability in disease liability attributable to the aggregate effect of genome-wide SNPs were significantly greater for family history positive compared to family history negative cases (0.32 and 0.22, respectively; P = 0.031).We found suggestive evidence of allelic effects detectable in large GWAS of schizophrenia that might be specific to particular family history subgroups. However, consideration of a polygenic risk score indicated a significant enrichment among family history

  8. Driving south: a multi-gene phylogeny of the brown algal family Fucaceae reveals relationships and recent drivers of a marine radiation.

    PubMed

    Cánovas, Fernando G; Mota, Catarina F; Serrão, Ester A; Pearson, Gareth A

    2011-12-21

    Understanding the processes driving speciation in marine ecosystems remained a challenge until recently, due to the unclear nature of dispersal boundaries. However, recent evidence for marine adaptive radiations and ecological speciation, as well as previously undetected patterns of cryptic speciation is overturning this view. Here, we use multi-gene phylogenetics to infer the family-level evolutionary history of Fucaceae (intertidal brown algae of the northern Pacific and Atlantic) in order to investigate recent and unique patterns of radiative speciation in the genus Fucus in the Atlantic, in contrast with the mainly monospecific extant genera. We developed a set of markers from 13 protein coding genes based on polymorphic cDNA from EST libraries, which provided novel resolution allowing estimation of ancestral character states and a detailed reconstruction of the recent radiative history. Phylogenetic reconstructions yielded similar topologies and revealed four independent trans-Arctic colonization events by Fucaceae lineages, two of which also involved transitions from hermaphroditism to dioecy associated with Atlantic invasions. More recently, reversion of dioecious ancestral lineages towards hermaphroditism has occurred in the genus Fucus, particularly coinciding with colonization of more extreme habitats. Novel lineages in the genus Fucus were also revealed in association with southern habitats. These most recent speciation events occurred during the Pleistocene glaciations and coincided with a shift towards selfing mating systems, generally southward shifts in distribution, and invasion of novel habitats. Diversification of the family occurred in the Late-Mid Miocene, with at least four independent trans-Artic lineage crossings coincident with two reproductive mode transitions. The genus Fucus arose in the Pliocene but radiated within a relatively short time frame about 2.5 million years ago. Current species distributions of Fucus suggest that climatic

  9. Genome-Wide Analysis of the GRF Family Reveals Their Involvement in Abiotic Stress Response in Cassava.

    PubMed

    Shang, Sang; Wu, Chunlai; Huang, Chao; Tie, Weiwei; Yan, Yan; Ding, Zehong; Xia, Zhiqiang; Wang, Wenquan; Peng, Ming; Tian, Libo; Hu, Wei

    2018-02-20

    GENERAL REGULATORY FACTOR (GRF) proteins play vital roles in the regulation of plant growth, development, and response to abiotic stress. However, little information is known for this gene family in cassava ( Manihot esculenta ). In this study, 15 MeGRFs were identified from the cassava genome and were clustered into the ε and the non-ε groups according to phylogenetic, conserved motif, and gene structure analyses. Transcriptomic analyses showed eleven Me GRFs with constitutively high expression in stems, leaves, and storage roots of two cassava genotypes. Expression analyses revealed that the majority of GRFs showed transcriptional changes under cold, osmotic, salt, abscisic acid (ABA), and H₂O₂ treatments. Six Me GRFs were found to be commonly upregulated by abiotic stress, ABA, and H₂O₂ treatments, which may be the converging points of multiple signaling pathways. Interaction network analysis identified 18 possible interactors of MeGRFs. Taken together, this study elucidates the transcriptional control of Me GRFs in tissue development and the responses of abiotic stress and related signaling in cassava. Some constitutively expressed, tissue-specific, and abiotic stress-responsive candidate MeGRF genes were identified for the further genetic improvement of crops.

  10. Family Drawings before and after Treatment for Child Conduct Problems: Fluidity of Family Dysfunction.

    PubMed

    Kloft, Lilian; Hawes, David; Moul, Caroline; Sultan, Sonia; Dadds, Mark

    2017-01-01

    Children's drawings have previously been found to reflect their representations of family relationships. The present study examined whether evidence-based parent training for child conduct problems impacts on representations of family functioning using the Family Drawing Paradigm (FDP). N  = 53 clinic-referred children (aged 3-15) with conduct problems and their families were assessed pre-treatment and at 6-month follow-up on a modified version of the FDP. Analyses of changes in the FDP revealed improvements in family functioning but not tone of language (as indicated by written descriptors) following treatment. Higher family dysfunction scores were associated with increased levels of callous-unemotional (CU) traits in the children pre-treatment. Children with high levels of CU, however, demonstrated greater change in FDP dysfunction than a low CU group, resulting in similar levels at follow-up. CU traits also moderated the association between change in family warmth and conduct problem severity, with increased FDP warmth more strongly related to improved conduct problems in the high vs. the low CU group. FDP drawings are sensitive to changes in family functioning arising from parent training, accounting for unique variance in child outcomes independent of verbal reports.

  11. Toxicity of Bioactive and Probiotic Marine Bacteria and Their Secondary Metabolites in Artemia sp. and Caenorhabditis elegans as Eukaryotic Model Organisms

    PubMed Central

    Neu, Anna Katrin; Månsson, Maria; Prol-García, María J.

    2014-01-01

    We have previously reported that some strains belonging to the marine Actinobacteria class, the Pseudoalteromonas genus, the Roseobacter clade, and the Photobacteriaceae and Vibrionaceae families produce both antibacterial and antivirulence compounds, and these organisms are interesting from an applied point of view as fish probiotics or as a source of pharmaceutical compounds. The application of either organisms or compounds requires that they do not cause any side effects, such as toxicity in eukaryotic organisms. The purpose of this study was to determine whether these bacteria or their compounds have any toxic side effects in the eukaryotic organisms Artemia sp. and Caenorhabditis elegans. Arthrobacter davidanieli WX-11, Pseudoalteromonas luteoviolacea S4060, P. piscicida S2049, P. rubra S2471, Photobacterium halotolerans S2753, and Vibrio coralliilyticus S2052 were lethal to either or both model eukaryotes. The toxicity of P. luteoviolacea S4060 could be related to the production of the antibacterial compound pentabromopseudilin, while the adverse effect observed in the presence of P. halotolerans S2753 and V. coralliilyticus S2052 could not be explained by the production of holomycin nor andrimid, the respective antibiotic compounds in these organisms. In contrast, the tropodithietic acid (TDA)-producing bacteria Phaeobacter inhibens DSM17395 and Ruegeria mobilis F1926 and TDA itself had no adverse effect on the target organisms. These results reaffirm TDA-producing Roseobacter bacteria as a promising group to be used as probiotics in aquaculture, whereas Actinobacteria, Pseudoalteromonas, Photobacteriaceae, and Vibrionaceae should be used with caution. PMID:24141121

  12. The Rural Families Program Makes a Difference.

    ERIC Educational Resources Information Center

    Viegas, Swarna; Meek, Jim

    1998-01-01

    Rural outreach workers delivered a stress prevention and early intervention education on a one-on-one basis to strengthen families and communities over 6-9 weeks. Pre/posttest data from 934 cases revealed that the program benefited participants in the areas of decision making, communication, financial management, parenting, family relationships,…

  13. Genome-wide identification and comparative expression analysis reveal a rapid expansion and functional divergence of duplicated genes in the WRKY gene family of cabbage, Brassica oleracea var. capitata.

    PubMed

    Yao, Qiu-Yang; Xia, En-Hua; Liu, Fei-Hu; Gao, Li-Zhi

    2015-02-15

    WRKY transcription factors (TFs), one of the ten largest TF families in higher plants, play important roles in regulating plant development and resistance. To date, little is known about the WRKY TF family in Brassica oleracea. Recently, the completed genome sequence of cabbage (B. oleracea var. capitata) allows us to systematically analyze WRKY genes in this species. A total of 148 WRKY genes were characterized and classified into seven subgroups that belong to three major groups. Phylogenetic and synteny analyses revealed that the repertoire of cabbage WRKY genes was derived from a common ancestor shared with Arabidopsis thaliana. The B. oleracea WRKY genes were found to be preferentially retained after the whole-genome triplication (WGT) event in its recent ancestor, suggesting that the WGT event had largely contributed to a rapid expansion of the WRKY gene family in B. oleracea. The analysis of RNA-Seq data from various tissues (i.e., roots, stems, leaves, buds, flowers and siliques) revealed that most of the identified WRKY genes were positively expressed in cabbage, and a large portion of them exhibited patterns of differential and tissue-specific expression, demonstrating that these gene members might play essential roles in plant developmental processes. Comparative analysis of the expression level among duplicated genes showed that gene expression divergence was evidently presented among cabbage WRKY paralogs, indicating functional divergence of these duplicated WRKY genes. Copyright © 2014 Elsevier B.V. All rights reserved.

  14. Analyses of Sox-B and Sox-E Family Genes in the Cephalopod Sepia officinalis: Revealing the Conserved and the Unusual

    PubMed Central

    Focareta, Laura; Cole, Alison G.

    2016-01-01

    Cephalopods provide an unprecedented opportunity for comparative studies of the developmental genetics of organ systems that are convergent with analogous vertebrate structures. The Sox-family of transcription factors is an important class of DNA-binding proteins that are known to be involved in many aspects of differentiation, but have been largely unstudied in lophotrochozoan systems. Using a degenerate primer strategy we have isolated coding sequence for three members of the Sox family of transcription factors from a cephalopod mollusk, the European cuttlefish Sepia officinalis: Sof-SoxE, Sof-SoxB1, and Sof-SoxB2. Analyses of their expression patterns during organogenesis reveals distinct spatial and temporal expression domains. Sof-SoxB1 shows early ectodermal expression throughout the developing epithelium, which is gradually restricted to presumptive sensory epithelia. Expression within the nervous system appears by mid-embryogenesis. Sof-SoxB2 expression is similar to Sof-SoxB1 within the developing epithelia in early embryogenesis, however appears in largely non-overlapping expression domains within the central nervous system and is not expressed in the maturing sensory epithelium. In contrast, Sof-SoxE is expressed throughout the presumptive mesodermal territories at the onset of organogenesis. As development proceeds, Sof-SoxE expression is elevated throughout the developing peripheral circulatory system. This expression disappears as the circulatory system matures, but expression is maintained within undifferentiated connective tissues throughout the animal, and appears within the nervous system near the end of embryogenesis. SoxB proteins are widely known for their role in neural specification in numerous phylogenetic lineages. Our data suggests that Sof-SoxB genes play similar roles in cephalopods. In contrast, Sof-SoxE appears to be involved in the early stages of vasculogenesis of the cephalopod closed circulatory system, a novel role for a member of

  15. Work and Family Variables, Entrepreneurial Career Success, and Psychological Well-Being.

    ERIC Educational Resources Information Center

    Parasuraman, Saroj; And Others

    1996-01-01

    Responses from 111 entrepreneurs revealed that work characteristics/pressures influence work more than family commitment; parental demands and partner support influence family more than work commitment. Women devote more time to family and men to work. Autonomy enables entrepreneurs to minimize the intrusion of family on work. (SK)

  16. An immunogenetic study of familial scleroderma.

    PubMed Central

    de Juan, M D; Belzunegui, J; Belmonte, I; Barado, J; Figueroa, M; Cancio, J; Vidal, S; Cuadrado, E

    1994-01-01

    OBJECTIVE--To study the role of the HLA system in the genetic susceptibility to familial systemic sclerosis (SSc). METHODS--HLA class I antigens were determined by classic serological methods and HLA-DRB, -DQA and -DQB genes were analysed by genetic typing in 36 individuals belonging to two families with several individuals affected by SSc. RESULTS--The results did not show any association of the inheritance to SSc with any particular HLA allele in these families but revealed a striking frequency of ANA autoantibodies in healthy spouses of the members of these families. CONCLUSION--The otherwise infrequent familial incidence of SSc does not appear to be primarily linked to the HLA system in this study but it is suggested that other unknown exogenous environmental factors could be implicated in the development of the disease in families. PMID:7979601

  17. Intergenerational continuity in high conflict family environments

    PubMed Central

    Rothenberg, W. Andrew; Hussong, Andrea M.; Chassin, Laurie

    2016-01-01

    In the current study, we examined continuity in conflict across generations and explored potential mediators and moderators that could explain this continuity. We followed 246 targets from adolescence to adulthood and examined family conflict as reported by multiple reporters in targets' family of origin and current families. Results showed that conflict in the current family was strongly correlated with that of the family of origin in women but not in men. Continuity in family conflict across generations was mediated by patterns of elevated adolescent externalizing behavior in members of the second generation (G2). Additionally, analyses revealed an interaction between both G2 partners' externalizing behavior such that if one partner in the G2 family demonstrated high levels of externalizing behavior, elevated levels of family conflict resulted. Potential explanations and implications of these findings are considered. PMID:26018605

  18. Differential Adjustment Among Rural Adolescents Exposed to Family Violence

    PubMed Central

    Sianko, Natallia; Hedge, Jasmine M.; McDonell, James R.

    2016-01-01

    This study examines differences in psychological adjustment in a sample of rural adolescents who have been exposed to family violence. Self-report questionnaires were administered to 580 adolescents and their primary caregivers. The results revealed that over two thirds of the study participants (68.8%) had been exposed to violence in their families. As hypothesized, cluster analysis identified several profiles among adolescents, distinguished by their psychological and emotional functioning: well adjusted (46.2%), moderately adjusted (44.3%), and struggling (9.5%). Discriminant function analysis confirmed the groupings and revealed that family functioning was among the most influential factors explaining adjustment differences. Multivariate analyses of variance (MANOVAs) further showed that adolescents from each of the three adjustment profiles reported significantly different levels of family social support, parental involvement, and perceived neighborhood safety. Overall, the results confirm heterogeneity of adolescent adaptation in the aftermath of family violence and provide insights into family and neighborhood factors that account for variability in adolescents’ reactions to violence. Implications for future research and practical interventions are discussed. PMID:27106255

  19. Differential Adjustment Among Rural Adolescents Exposed to Family Violence.

    PubMed

    Sianko, Natallia; Hedge, Jasmine M; McDonell, James R

    2016-04-22

    This study examines differences in psychological adjustment in a sample of rural adolescents who have been exposed to family violence. Self-report questionnaires were administered to 580 adolescents and their primary caregivers. The results revealed that over two thirds of the study participants (68.8%) had been exposed to violence in their families. As hypothesized, cluster analysis identified several profiles among adolescents, distinguished by their psychological and emotional functioning: well adjusted (46.2%), moderately adjusted (44.3%), and struggling (9.5%). Discriminant function analysis confirmed the groupings and revealed that family functioning was among the most influential factors explaining adjustment differences. Multivariate analyses of variance (MANOVAs) further showed that adolescents from each of the three adjustment profiles reported significantly different levels of family social support, parental involvement, and perceived neighborhood safety. Overall, the results confirm heterogeneity of adolescent adaptation in the aftermath of family violence and provide insights into family and neighborhood factors that account for variability in adolescents' reactions to violence. Implications for future research and practical interventions are discussed. © The Author(s) 2016.

  20. Naturalistic Language Recordings Reveal "Hypervocal" Infants at High Familial Risk for Autism

    ERIC Educational Resources Information Center

    Swanson, Meghan R.; Shen, Mark D.; Wolff, Jason J.; Boyd, Brian; Clements, Mark; Rehg, James; Elison, Jed T.; Paterson, Sarah; Parish-Morris, Julia; Chappell, J. Chad; Hazlett, Heather C.; Emerson, Robert W.; Botteron, Kelly; Pandey, Juhi; Schultz, Robert T.; Dager, Stephen R.; Zwaigenbaum, Lonnie; Estes, Annette M.; Piven, Joseph

    2018-01-01

    Children's early language environments are related to later development. Little is known about this association in siblings of children with autism spectrum disorder (ASD), who often experience language delays or have ASD. Fifty-nine 9-month-old infants at high or low familial risk for ASD contributed full-day in-home language recordings.…

  1. Exome sequences of multiplex, multigenerational families reveal schizophrenia risk loci with potential implications for neurocognitive performance.

    PubMed

    Kos, Mark Z; Carless, Melanie A; Peralta, Juan; Curran, Joanne E; Quillen, Ellen E; Almeida, Marcio; Blackburn, August; Blondell, Lucy; Roalf, David R; Pogue-Geile, Michael F; Gur, Ruben C; Göring, Harald H H; Nimgaonkar, Vishwajit L; Gur, Raquel E; Almasy, Laura

    2017-12-01

    Schizophrenia is a serious mental illness, involving disruptions in thought and behavior, with a worldwide prevalence of about one percent. Although highly heritable, much of the genetic liability of schizophrenia is yet to be explained. We searched for susceptibility loci in multiplex, multigenerational families affected by schizophrenia, targeting protein-altering variation with in silico predicted functional effects. Exome sequencing was performed on 136 samples from eight European-American families, including 23 individuals diagnosed with schizophrenia or schizoaffective disorder. In total, 11,878 non-synonymous variants from 6,396 genes were tested for their association with schizophrenia spectrum disorders. Pathway enrichment analyses were conducted on gene-based test results, protein-protein interaction (PPI) networks, and epistatic effects. Using a significance threshold of FDR < 0.1, association was detected for rs10941112 (p = 2.1 × 10 -5 ; q-value = 0.073) in AMACR, a gene involved in fatty acid metabolism and previously implicated in schizophrenia, with significant cis effects on gene expression (p = 5.5 × 10 -4 ), including brain tissue data from the Genotype-Tissue Expression project (minimum p = 6.0 × 10 -5 ). A second SNP, rs10378 located in TMEM176A, also shows risk effects in the exome data (p = 2.8 × 10 -5 ; q-value = 0.073). PPIs among our top gene-based association results (p < 0.05; n = 359 genes) reveal significant enrichment of genes involved in NCAM-mediated neurite outgrowth (p = 3.0 × 10 -5 ), while exome-wide SNP-SNP interaction effects for rs10941112 and rs10378 indicate a potential role for kinase-mediated signaling involved in memory and learning. In conclusion, these association results implicate AMACR and TMEM176A in schizophrenia risk, whose effects may be modulated by genes involved in synaptic plasticity and neurocognitive performance. © 2017 Wiley Periodicals, Inc.

  2. Observed sensitivity during family interactions and cumulative risk: A study of multiple dyads per family.

    PubMed

    Browne, Dillon T; Leckie, George; Prime, Heather; Perlman, Michal; Jenkins, Jennifer M

    2016-07-01

    The present study sought to investigate the family, individual, and dyad-specific contributions to observed cognitive sensitivity during family interactions. Moreover, the influence of cumulative risk on sensitivity at the aforementioned levels of the family was examined. Mothers and 2 children per family were observed interacting in a round robin design (i.e., mother-older sibling, mother younger-sibling and sibling-dyad, N = 385 families). Data were dyadic, in that there were 2 directional scores per interaction, and were analyzed using a multilevel formulation of the Social Relations Model. Variance partitioning revealed that cognitive sensitivity is simultaneously a function of families, individuals and dyads, though the importance of these components varies across family roles. Cognitive sensitivity for mothers was primarily attributable to individual differences, whereas cognitive sensitivity for children was predominantly attributable to family and dyadic differences, especially for youngest children. Cumulative risk explained family and individual variance in cognitive sensitivity, particularly when actors were older or in a position of relative competence or authority (i.e., mother to children, older to younger siblings). Overall, this study demonstrates that cognitive sensitivity operates across levels of family organization, and is negatively impacted by psychosocial risk. (PsycINFO Database Record (c) 2016 APA, all rights reserved).

  3. Hyperactivity of the default-mode network in first-episode, drug-naive schizophrenia at rest revealed by family-based case-control and traditional case-control designs.

    PubMed

    Guo, Wenbin; Liu, Feng; Chen, Jindong; Wu, Renrong; Li, Lehua; Zhang, Zhikun; Chen, Huafu; Zhao, Jingping

    2017-03-01

    Abnormal regional activity and functional connectivity of the default-mode network (DMN) have been reported in schizophrenia. However, previous studies may have been biased by unmatched case-control design. To limit such bias, the present study used both the family-based case-control design and the traditional case-control design to investigate abnormal regional activity of the DMN in patients with schizophrenia at rest.Twenty-eight first-episode, drug-naive patients with schizophrenia, 28 age-, sex-matched unaffected siblings of the patients (family-based controls, FBC), and 40 healthy controls (HC) underwent resting-state functional magnetic resonance imaging (fMRI) scans. The group-independent component analysis and fractional amplitude of low-frequency fluctuation (fALFF) methods were used to analyze the data.Patients with schizophrenia show increased fALFF in an overlapped region of the right superior medial prefrontal cortex (MPFC) relative to the FBC and the HC. Compared with the HC, the patients and the FBC exhibit increased fALFF in an overlapped region of the left posterior cingulate cortex/precuneus (PCC/PCu). Furthermore, the z values of the 2 overlapped regions can separate the patients from the FBC/HC, and separate the patients/FBC from the HC with relatively high sensitivity and specificity.Both the family-based case-control and traditional case-control designs reveal hyperactivity of the DMN in first-episode, drug-naive patients with paranoid schizophrenia, which highlights the importance of the DMN in the neurobiology of schizophrenia. Family-based case-control design can limit the confounding effects of environmental factors in schizophrenia. Combination of the family-based case-control and traditional case-control designs may be a viable option for the neuroimaging studies.

  4. Shared vision promotes family firm performance.

    PubMed

    Neff, John E

    2015-01-01

    A clear picture of the influential drivers of private family firm performance has proven to be an elusive target. The unique characteristics of private family owned firms necessitate a broader, non-financial approach to reveal firm performance drivers. This research study sought to specify and evaluate the themes that distinguish successful family firms from less successful family firms. In addition, this study explored the possibility that these themes collectively form an effective organizational culture that improves longer-term firm performance. At an organizational level of analysis, research findings identified four significant variables: Shared Vision (PNS), Role Clarity (RCL), Confidence in Management (CON), and Professional Networking (OLN) that positively impacted family firm financial performance. Shared Vision exhibited the strongest positive influence among the significant factors. In addition, Family Functionality (APGAR), the functional integrity of the family itself, exhibited a significant supporting role. Taken together, the variables collectively represent an effective family business culture (EFBC) that positively impacted the long-term financial sustainability of family owned firms. The index of effective family business culture also exhibited potential as a predictive non-financial model of family firm performance.

  5. Shared vision promotes family firm performance

    PubMed Central

    Neff, John E.

    2015-01-01

    A clear picture of the influential drivers of private family firm performance has proven to be an elusive target. The unique characteristics of private family owned firms necessitate a broader, non-financial approach to reveal firm performance drivers. This research study sought to specify and evaluate the themes that distinguish successful family firms from less successful family firms. In addition, this study explored the possibility that these themes collectively form an effective organizational culture that improves longer-term firm performance. At an organizational level of analysis, research findings identified four significant variables: Shared Vision (PNS), Role Clarity (RCL), Confidence in Management (CON), and Professional Networking (OLN) that positively impacted family firm financial performance. Shared Vision exhibited the strongest positive influence among the significant factors. In addition, Family Functionality (APGAR), the functional integrity of the family itself, exhibited a significant supporting role. Taken together, the variables collectively represent an effective family business culture (EFBC) that positively impacted the long-term financial sustainability of family owned firms. The index of effective family business culture also exhibited potential as a predictive non-financial model of family firm performance. PMID:26042075

  6. Ten Adaptive Strategies for Family and Work Balance: Advice from Successful Families.

    ERIC Educational Resources Information Center

    Haddock, Shelley A.; Zimmerman, Toni Schindler; Ziemba, Scott J.; Current, Lisa R.

    2001-01-01

    Investigated adaptive strategies of middle class, dual earner couples (N=47) with children that are successfully managing family and work. Guided by grounded-theory methodology, analysis of interview data revealed these successful couples structured their lives around 10 major strategies. Each strategy is defined and illustrated through the…

  7. Organizational work-family resources as predictors of job performance and attitudes: the process of work-family conflict and enrichment.

    PubMed

    Odle-Dusseau, Heather N; Britt, Thomas W; Greene-Shortridge, Tiffany M

    2012-01-01

    The goal of the current study was to test a model where organizational resources (aimed at managing work and family responsibilities) predict job attitudes and supervisor ratings of performance through the mechanisms of work-family conflict and work-family enrichment. Employees (n = 174) at a large metropolitan hospital were surveyed at two time periods regarding perceptions of family supportive supervisor behaviors (FSSB), family supportive organizational perceptions (FSOP), bidirectional work-family conflict, bidirectional work-family enrichment, and job attitudes. Supervisors were also asked to provide performance ratings at Time 2. Results revealed FSSB at Time 1 predicted job satisfaction, organizational commitment and intention to leave, as well as supervisor ratings of performance, at Time 2. In addition, both work-family enrichment and family-work enrichment were found to mediate relationships between FSSB and various organizational outcomes, while work-family conflict was not a significant mediator. Results support further testing of supervisor behaviors specific to family support, as well models that include bidirectional work-family enrichment as the mechanism by which work-family resources predict employee and organizational outcomes.

  8. Three thousand families: English Canada's colonizing vision and British family settlement, 1919-39.

    PubMed

    Mancuso, Rebecca J

    2011-01-01

    After the First World War, Canada's immigration policy became more restrictive and immigration more controlled. For English Canadians, immigration of the "right type" of people—those from the British Isles—remained vital to strengthening the nation. This article examines the 3,000 Family Scheme, a joint British-Canadian settlement project in which British families, comprised of over 18,000 individuals, were relocated to homesteads as colonizers of Canada's remote areas. There, many endured isolation and hardship, and were largely blamed for their own plight. A nation-building project that failed, the 3,000 Family Scheme reveals the connections among several enduring national myths in the interwar years: the potential for agricultural expansion, British superiority, and the capabilities of a maturing Canadian state to control the settlement process.

  9. Genome-wide screening of Oryza sativa ssp. japonica and indica reveals a complex family of proteins with ribosome-inactivating protein domains.

    PubMed

    Wytynck, Pieter; Rougé, Pierre; Van Damme, Els J M

    2017-11-01

    Ribosome-inactivating proteins (RIPs) are cytotoxic enzymes capable of halting protein synthesis by irreversible modification of ribosomes. Although RIPs are widespread they are not ubiquitous in the plant kingdom. The physiological importance of RIPs is not fully elucidated, but evidence suggests a role in the protection of the plant against biotic and abiotic stresses. Searches in the rice genome revealed a large and highly complex family of proteins with a RIP domain. A comparative analysis retrieved 38 RIP sequences from the genome sequence of Oryza sativa subspecies japonica and 34 sequences from the subspecies indica. The RIP sequences are scattered over different chromosomes but are mostly found on the third chromosome. The phylogenetic tree revealed the pairwise clustering of RIPs from japonica and indica. Molecular modeling and sequence analysis yielded information on the catalytic site of the enzyme, and suggested that a large part of RIP domains probably possess N-glycosidase activity. Several RIPs are differentially expressed in plant tissues and in response to specific abiotic stresses. This study provides an overview of RIP motifs in rice and will help to understand their biological role(s) and evolutionary relationships. Copyright © 2017 Elsevier Ltd. All rights reserved.

  10. Rights and the role of family engagement in child welfare: an international treaties perspective on families' rights, parents' rights, and children's rights.

    PubMed

    Lenzer, Gertrud; Gran, Brian

    2011-01-01

    According to international human rights treaties, what rights do family members, parents, and children have in family engagement in child welfare decision-making? A socio-legal analytical approach produces a typology of rights, then applies the typology to eight countries' approaches to family engagement to show that strong bundles of rights are available in some countries, but not in others. This study reveals international treaties have articulated many rights necessary to family engagement, but some rights are missing.

  11. Comparative genome analysis reveals a conserved family of actin-like proteins in apicomplexan parasites

    PubMed Central

    Gordon, Jennifer L; Sibley, L David

    2005-01-01

    Background The phylum Apicomplexa is an early-branching eukaryotic lineage that contains a number of important human and animal pathogens. Their complex life cycles and unique cytoskeletal features distinguish them from other model eukaryotes. Apicomplexans rely on actin-based motility for cell invasion, yet the regulation of this system remains largely unknown. Consequently, we focused our efforts on identifying actin-related proteins in the recently completed genomes of Toxoplasma gondii, Plasmodium spp., Cryptosporidium spp., and Theileria spp. Results Comparative genomic and phylogenetic studies of apicomplexan genomes reveals that most contain only a single conventional actin and yet they each have 8–10 additional actin-related proteins. Among these are a highly conserved Arp1 protein (likely part of a conserved dynactin complex), and Arp4 and Arp6 homologues (subunits of the chromatin-remodeling machinery). In contrast, apicomplexans lack canonical Arp2 or Arp3 proteins, suggesting they lost the Arp2/3 actin polymerization complex on their evolutionary path towards intracellular parasitism. Seven of these actin-like proteins (ALPs) are novel to apicomplexans. They show no phylogenetic associations to the known Arp groups and likely serve functions specific to this important group of intracellular parasites. Conclusion The large diversity of actin-like proteins in apicomplexans suggests that the actin protein family has diverged to fulfill various roles in the unique biology of intracellular parasites. Conserved Arps likely participate in vesicular transport and gene expression, while apicomplexan-specific ALPs may control unique biological traits such as actin-based gliding motility. PMID:16343347

  12. Functional specialization among insect chitinase family genes revealed by RNA interference

    PubMed Central

    Zhu, Qingsong; Arakane, Yasuyuki; Beeman, Richard W.; Kramer, Karl J.; Muthukrishnan, Subbaratnam

    2008-01-01

    The biological functions of individual members of the large family of chitinase-like proteins from the red flour beetle, Tribolium castaneum (Tc), were examined by using gene-specific RNAi. One chitinase, TcCHT5, was found to be required for pupal–adult molting only. A lethal phenotype was observed when the transcript level of TcCHT5 was down-regulated by injection of TcCHT5-specific dsRNA into larvae. The larvae had metamorphosed into pupae and then to pharate adults but did not complete adult eclosion. Specific knockdown of transcripts for another chitinase, TcCHT10, which has multiple catalytic domains, prevented embryo hatch, larval molting, pupation, and adult metamorphosis, indicating a vital role for TcCHT10 during each of these processes. A third chitinase-like protein, TcCHT7, was required for abdominal contraction and wing/elytra extension immediately after pupation but was dispensable for larval–larval molting, pupation, and adult eclosion. The wing/elytra abnormalities found in TcCHT7-silenced pupae were also manifest in the ensuing adults. A fourth chitinase-like protein, TcIDGF4, exhibited no chitinolytic activity but contributed to adult eclosion. No phenotypic effects were observed after knockdown of transcripts for several other chitinase-like proteins, including imaginal disk growth factor IDGF2. These data indicate functional specialization among insect chitinase family genes, primarily during the molting process, and provide a biological rationale for the presence of a large assortment of chitinase-like proteins. PMID:18436642

  13. Revealing a Child's Pathology: Physicians' Experiences

    ERIC Educational Resources Information Center

    Scelles, Regine; Aubert-Godard, Anne; Gargiulo, Marcela; Avant, Monique; Gortais, Jean

    2010-01-01

    In this study, 12 physicians and 12 care-givers were interviewed using semi-structured interviews. We explored physicians' experiences when they revealed a diagnosis. We also tried to understand which family members the physician was thinking of, with whom they identified themselves, and their first choice of the person to whom they prefer to…

  14. The role of the family in HIV status disclosure among women in Vietnam: Familial dependence and independence.

    PubMed

    Dinh, H T; White, J L; Hipwell, M; Nguyen, C T K; Pharris, A

    2018-04-01

    Insights into disclosure by people living with HIV and AIDS (PLWHA) can inform strategies for treatment and support, yet Vietnamese women's self-disclosure patterns are poorly understood. We conducted interviews with 12 HIV-positive women, identifying three principal factors influencing disclosure to family members: patrilocal residence, desire to protect own family, and the need for financial support. Women's decision-making about disclosure was significantly affected by dependence on or independence of parents-in-law and their own parents. We believe that our findings reveal the complex interplay of stigma and disclosure within Vietnamese families, highlighting the need for specific social measures that promote self-disclosure combined with family support for female PLWHA.

  15. Family Environment and Social Development in Gifted Students

    ERIC Educational Resources Information Center

    Olszewski-Kubilius, Paula; Lee, Seon-Young; Thomson, Dana

    2014-01-01

    Involving more than 1,500 academically gifted students and their parents, this study examined relationships between family environment and social competence of gifted students. Results from an online survey revealed that our gifted students rated their families as cohesive and flexible with high levels of satisfaction and communication among…

  16. On Being a Father or Sibling in Light of the Humanbecoming Family Model.

    PubMed

    Baumann, Steven L; Braddick, Marybeth

    2016-01-01

    The following article provides an updated discussion on two Parse grounded exploratory descriptive studies in light to her recently added humanbecoming family model. The comments of the fathers and siblings from the studies reveal that family life is unpredictable and that family relationships are paradoxical evolutional emergences of shifting hopes and dreams. The humanbecoming family model provided a useful way to consider fathering and being a sibling, as unexpected unfoldings of joy-sorrow reveal purposeful new possibilities. It guides health professionals to avoid the imposition of their views on what is best for the family in favor of bearing witness to the suffering and disappointments that unfold in family life. It is important to remain open to families' sources of meaning, courage, and hope in the moment. © The Author(s) 2015.

  17. Complex Intervention: A Family's Story of Loss, Struggle, and Perseverance

    ERIC Educational Resources Information Center

    Njoroge, Wanjiku F. M.

    2015-01-01

    This article reveals the complicated relationships among culture, family, trauma, and service delivery for immigrant families. The author describes a family who first came into contact with the service delivery system referred by the pediatrician, whose practice was an important point of entry for the early childhood work that followed. The family…

  18. Functional and transcriptome analysis reveals an acclimatization strategy for abiotic stress tolerance mediated by Arabidopsis NF-YA family members.

    PubMed

    Leyva-González, Marco Antonio; Ibarra-Laclette, Enrique; Cruz-Ramírez, Alfredo; Herrera-Estrella, Luis

    2012-01-01

    Nuclear Factor Y (NF-Y) is a heterotrimeric complex formed by NF-YA/NF-YB/NF-YC subunits that binds to the CCAAT-box in eukaryotic promoters. In contrast to other organisms, in which a single gene encodes each subunit, in plants gene families of over 10 members encode each of the subunits. Here we report that five members of the Arabidopsis thaliana NF-YA family are strongly induced by several stress conditions via transcriptional and miR169-related post-transcriptional mechanisms. Overexpression of NF-YA2, 7 and 10 resulted in dwarf late-senescent plants with enhanced tolerance to several types of abiotic stress. These phenotypes are related to alterations in sucrose/starch balance and cell elongation observed in NF-YA overexpressing plants. The use of transcriptomic analysis of transgenic plants that express miR169-resistant versions of NF-YA2, 3, 7, and 10 under an estradiol inducible system, as well as a dominant-repressor version of NF-YA2 revealed a set of genes, whose promoters are enriched in NF-Y binding sites (CCAAT-box) and that may be directly regulated by the NF-Y complex. This analysis also suggests that NF-YAs could participate in modulating gene regulation through positive and negative mechanisms. We propose a model in which the increase in NF-YA transcript levels in response to abiotic stress is part of an adaptive response to adverse environmental conditions in which a reduction in plant growth rate plays a key role.

  19. Functional and Transcriptome Analysis Reveals an Acclimatization Strategy for Abiotic Stress Tolerance Mediated by Arabidopsis NF-YA Family Members

    PubMed Central

    Leyva-González, Marco Antonio; Ibarra-Laclette, Enrique; Cruz-Ramírez, Alfredo; Herrera-Estrella, Luis

    2012-01-01

    Nuclear Factor Y (NF-Y) is a heterotrimeric complex formed by NF-YA/NF-YB/NF-YC subunits that binds to the CCAAT-box in eukaryotic promoters. In contrast to other organisms, in which a single gene encodes each subunit, in plants gene families of over 10 members encode each of the subunits. Here we report that five members of the Arabidopsis thaliana NF-YA family are strongly induced by several stress conditions via transcriptional and miR169-related post-transcriptional mechanisms. Overexpression of NF-YA2, 7 and 10 resulted in dwarf late-senescent plants with enhanced tolerance to several types of abiotic stress. These phenotypes are related to alterations in sucrose/starch balance and cell elongation observed in NF-YA overexpressing plants. The use of transcriptomic analysis of transgenic plants that express miR169-resistant versions of NF-YA2, 3, 7, and 10 under an estradiol inducible system, as well as a dominant-repressor version of NF-YA2 revealed a set of genes, whose promoters are enriched in NF-Y binding sites (CCAAT-box) and that may be directly regulated by the NF-Y complex. This analysis also suggests that NF-YAs could participate in modulating gene regulation through positive and negative mechanisms. We propose a model in which the increase in NF-YA transcript levels in response to abiotic stress is part of an adaptive response to adverse environmental conditions in which a reduction in plant growth rate plays a key role. PMID:23118940

  20. Spiritual Coping: A Gateway to Enhancing Family Communication During Cancer Treatment.

    PubMed

    Prouty, Anne M; Fischer, Judith; Purdom, Ann; Cobos, Everardo; Helmeke, Karen B

    2016-02-01

    The researchers examined the spiritual coping, family communication, and family functioning of 95 participants in 34 families by an online survey. Multilevel linear regression was used to test whether individuals' and families' higher endorsement of more use of spiritual coping strategies to deal with a member's cancer would be associated with higher scores on family communication and family functioning, and whether better communication would also be associated with higher family functioning scores. Results revealed that spiritual coping was positively associated with family communication, and family communication was positively associated with healthier family functioning. The researchers provide suggestions for further research.

  1. Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease.

    PubMed

    Huang, Xiaoyan; Tian, Mao; Li, Jiankang; Cui, Ling; Li, Min; Zhang, Jianguo

    2017-11-01

    Norrie disease (ND) is a rare X-linked genetic disorder, the main symptoms of which are congenital blindness and white pupils. It has been reported that ND is caused by mutations in the NDP gene. Although many mutations in NDP have been reported, the genetic cause for many patients remains unknown. In this study, the aim is to investigate the genetic defect in a five-generation family with typical symptoms of ND. To identify the causative gene, next-generation sequencing based target capture sequencing was performed. Segregation analysis of the candidate variant was performed in additional family members using Sanger sequencing. We identified a novel missense variant (c.314C>A) located within the NDP gene. The mutation cosegregated within all affected individuals in the family and was not found in unaffected members. By happenstance, in this family, we also detected a known pathogenic variant of retinitis pigmentosa in a healthy individual. c.314C>A mutation of NDP gene is a novel mutation and broadens the genetic spectrum of ND.

  2. Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease

    PubMed Central

    Huang, Xiaoyan; Tian, Mao; Li, Jiankang; Cui, Ling; Li, Min; Zhang, Jianguo

    2017-01-01

    Purpose: Norrie disease (ND) is a rare X-linked genetic disorder, the main symptoms of which are congenital blindness and white pupils. It has been reported that ND is caused by mutations in the NDP gene. Although many mutations in NDP have been reported, the genetic cause for many patients remains unknown. In this study, the aim is to investigate the genetic defect in a five-generation family with typical symptoms of ND. Methods: To identify the causative gene, next-generation sequencing based target capture sequencing was performed. Segregation analysis of the candidate variant was performed in additional family members using Sanger sequencing. Results: We identified a novel missense variant (c.314C>A) located within the NDP gene. The mutation cosegregated within all affected individuals in the family and was not found in unaffected members. By happenstance, in this family, we also detected a known pathogenic variant of retinitis pigmentosa in a healthy individual. Conclusion: c.314C>A mutation of NDP gene is a novel mutation and broadens the genetic spectrum of ND. PMID:29133643

  3. Stress in Latino families following an adolescent's childbearing: effects on family relationships and siblings.

    PubMed

    East, Patricia L; Chien, Nina C

    2013-04-01

    This study examined how increased stress in Latino families following an adolescent's childbearing impacts family relationships and the adolescent's siblings. Participants were 243 Mexican American youth (mean age: 13.7 years; 62% girls), or 121 youth who had a pregnant adolescent sister and 122 youth who had an adolescent sister who had never been pregnant. Youth and their mothers were studied at 4 time points across 15 months: The families of pregnant adolescents were studied when the adolescent sister was in her third trimester of pregnancy, and at 2 months, 6 months, and 12 months postpartum; the families of never-pregnant adolescents were studied at like intervals. Individual fixed-effects structural equation models were computed, which control for earlier measures of study constructs and thereby reduce omitted variable bias from preexisting family group differences. Results showed that an adolescent's childbearing was related to increases in family stress, which were related to increases in mothers' harsh parenting and mother-sibling conflict, which, in turn, were related to subsequent increases in siblings' problem behavior. Multiple group analyses revealed that the pathways through which a teenager's childbearing influences siblings operate similarly for girls and boys. Tests of an alternate ordering of model variables indicated a poor fit with the data. Findings provide evidence that the accumulation of stressful family changes following an adolescent's childbearing can negatively impact siblings. Findings also elucidate how family-level stress and disruption experienced across a family transition trickle down to affect family relationships and, in turn, child family members. (PsycINFO Database Record (c) 2013 APA, all rights reserved).

  4. A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations.

    PubMed

    Taghavi, Shaghayegh; Chaouni, Rita; Tafakhori, Abbas; Azcona, Luis J; Firouzabadi, Saghar Ghasemi; Omrani, Mir Davood; Jamshidi, Javad; Emamalizadeh, Babak; Shahidi, Gholam Ali; Ahmadi, Mona; Habibi, Seyed Amir Hassan; Ahmadifard, Azadeh; Fazeli, Atena; Motallebi, Marzieh; Petramfar, Peyman; Askarpour, Saeed; Askarpour, Shiva; Shahmohammadibeni, Hossein Ali; Shahmohammadibeni, Neda; Eftekhari, Hajar; Shafiei Zarneh, Amir Ehtesham; Mohammadihosseinabad, Saeed; Khorrami, Mehdi; Najmi, Safa; Chitsaz, Ahmad; Shokraeian, Parasto; Ehsanbakhsh, Hossein; Rezaeidian, Jalal; Ebrahimi Rad, Reza; Madadi, Faranak; Andarva, Monavvar; Alehabib, Elham; Atakhorrami, Minoo; Mortazavi, Seyed Erfan; Azimzadeh, Zahra; Bayat, Mahdis; Besharati, Amir Mohammad; Harati-Ghavi, Mohammad Ali; Omidvari, Samareh; Dehghani-Tafti, Zahra; Mohammadi, Faraz; Mohammad Hossein Pour, Banafsheh; Noorollahi Moghaddam, Hamid; Esmaili Shandiz, Ehsan; Habibi, Arman; Taherian-Esfahani, Zahra; Darvish, Hossein; Paisán-Ruiz, Coro

    2018-04-01

    In this study, the role of known Parkinson's disease (PD) genes was examined in families with autosomal recessive (AR) parkinsonism to assist with the differential diagnosis of PD. Some families without mutations in known genes were also subject to whole genome sequencing with the objective to identify novel parkinsonism-related genes. Families were selected from 4000 clinical files of patients with PD or parkinsonism. AR inheritance pattern, consanguinity, and a minimum of two affected individuals per family were used as inclusion criteria. For disease gene/mutation identification, multiplex ligation-dependent probe amplification, quantitative PCR, linkage, and Sanger and whole genome sequencing assays were carried out. A total of 116 patients (50 families) were examined. Fifty-four patients (46.55%; 22 families) were found to carry pathogenic mutations in known genes while a novel gene, not previously associated with parkinsonism, was found mutated in a single family (2 patients). Pathogenic mutations, including missense, nonsense, frameshift, and exon rearrangements, were found in Parkin, PINK1, DJ-1, SYNJ1, and VAC14 genes. In conclusion, variable phenotypic expressivity was seen across all families.

  5. Fractured families: parental perspectives of the effects of adolescent drug abuse on family life.

    PubMed

    Jackson, Debra; Usher, Kim; O'Brien, Louise

    Drug use in young people has serious ramifications for health and well-being of young people and their families and continues to be an area of major concern for health workers. Though the task of dealing with drug-related problems falls on families, particularly parents, very little literature has explored parental experiences of managing drug use within the context of family life. Eighteen parents of drug-abusing young people were recruited into this qualitative study that aimed to develop understandings into the effects of adolescent drug use on family life. Findings revealed that the experience of having a drug-abusing adolescent family member had a profound effect on other members of the immediate family. Family relationships were fractured and split as a result of the on-going destructive and damaging behaviour of the drug-abusing young person. Five themes were identified that captured the concept of fractured families. These are: betrayal and loss of trust: 'You had to have the doors locked'; abuse, threats and violence: 'there were holes in the wall'; sibling anger and resentment: 'Better off now with him gone'; isolated, disgraced and humiliated: 'You are on your own with it'; and, feeling blamed: 'You are not a good parent'. Implications for practice and further research are drawn from the findings of this paper.

  6. Modification of family size in families reporting history of haemophilia from Maharashtra, India.

    PubMed

    Potnis-Lele, Mugdha; Kar, Anita

    2003-04-01

    In India, genetic counselling services are largely unavailable. The question of whether awareness of the hereditary nature of the disorder leads to modified family size in affected families remains unanswered. The objective of this study was to determine whether family history of haemophilia resulted in modification of family size in families reporting haemophilia in the State of Maharashtra, India. The study was a retrospective cohort analysis from pedigrees collected from an earlier survey on haemophilia in Maharashtra. Pedigree data were manually defined into families with or without experience of haemophilia. Family size was defined as the number of live births per woman as documented in the pedigree. The data were analysed using Microsoft Excel package (version 2000) and SPSS package (version 10). Family size of obligate carriers who were daughters of patients was significantly less than the family size of obligate carriers who reported haemophilia in a brother or maternal relative (z = 7.14, P < 0.001). As compared with parents from an older generation, a significant reduction in the number of children born to younger families with haemophilia was observed, irrespective of family history of the condition. In families with history of haemophilia, there was no significant reduction in the number of families with more than one affected son in between two generations of parents (chi(2) = 1.43). The results revealed a reduction in size of families with haemophilia over a generation, which possibly reflected the reducing fertility trends observed in the Indian population. Reduction in the number of children born to women with a haemophilic father suggested a comprehension of father to daughter transmission of haemophilia. This was not true when relatives other than the father were affected. The lack of significant reduction in the number of families with history of haemophilia of having more than one affected son may suggest a compensatory response to the high

  7. The relation between family adversity and social anxiety among adolescents in Taiwan: effects of family function and self-esteem.

    PubMed

    Yen, Cheng-Fang; Yang, Pinchen; Wu, Yu-Yu; Cheng, Chung-Ping

    2013-11-01

    This study aimed to examine the relationship between three indicators of family adversity (domestic violence, family substance use, and broken parental marriage) and the severity of social anxiety among adolescents in Taiwan, as well as the mediating effects of perceived family function and self-esteem on that relationship, using structural equation modeling (SEM). A total of 5607 adolescents completed the social anxiety subscale of the Multidimensional Anxiety Scale for Children; the Family APGAR Index; the Rosenberg Self-Esteem Scale; and a questionnaire for domestic violence, family substance use, and broken parental marriage. The relation between family adversity and social anxiety, as well as the mediating effects of family function and self-esteem, was examined using SEM. SEM analysis revealed that all three indicators of family adversity reduced the level of family function, that decreased family function compromised the level of self-esteem, and that a low level of self-esteem further increased the severity of social anxiety. The results indicated that, along with intervening to change family adversity, evaluating and improving adolescents' self-esteem and family function are also important clinical issues when helping adolescents reduce their social anxiety.

  8. Repeat-associated plasticity in the Helicobacter pylori RD gene family.

    PubMed

    Shak, Joshua R; Dick, Jonathan J; Meinersmann, Richard J; Perez-Perez, Guillermo I; Blaser, Martin J

    2009-11-01

    The bacterium Helicobacter pylori is remarkable for its ability to persist in the human stomach for decades without provoking sterilizing immunity. Since repetitive DNA can facilitate adaptive genomic flexibility via increased recombination, insertion, and deletion, we searched the genomes of two H. pylori strains for nucleotide repeats. We discovered a family of genes with extensive repetitive DNA that we have termed the H. pylori RD gene family. Each gene of this family is composed of a conserved 3' region, a variable mid-region encoding 7 and 11 amino acid repeats, and a 5' region containing one of two possible alleles. Analysis of five complete genome sequences and PCR genotyping of 42 H. pylori strains revealed extensive variation between strains in the number, location, and arrangement of RD genes. Furthermore, examination of multiple strains isolated from a single subject's stomach revealed intrahost variation in repeat number and composition. Despite prior evidence that the protein products of this gene family are expressed at the bacterial cell surface, enzyme-linked immunosorbent assay and immunoblot studies revealed no consistent seroreactivity to a recombinant RD protein by H. pylori-positive hosts. The pattern of repeats uncovered in the RD gene family appears to reflect slipped-strand mispairing or domain duplication, allowing for redundancy and subsequent diversity in genotype and phenotype. This novel family of hypervariable genes with conserved, repetitive, and allelic domains may represent an important locus for understanding H. pylori persistence in its natural host.

  9. Comparative genomic analysis of the Lipase3 gene family in five plant species reveals distinct evolutionary origins.

    PubMed

    Wang, Dan; Zhang, Lin; Hu, JunFeng; Gao, Dianshuai; Liu, Xin; Sha, Yan

    2018-04-01

    Lipases are physiologically important and ubiquitous enzymes that share a conserved domain and are classified into eight different families based on their amino acid sequences and fundamental biological properties. The Lipase3 family of lipases was reported to possess a canonical fold typical of α/β hydrolases and a typical catalytic triad, suggesting a distinct evolutionary origin for this family. Genes in the Lipase3 family do not have the same functions, but maintain the conserved Lipase3 domain. There have been extensive studies of Lipase3 structures and functions, but little is known about their evolutionary histories. In this study, all lipases within five plant species were identified, and their phylogenetic relationships and genetic properties were analyzed and used to group them into distinct evolutionary families. Each identified lipase family contained at least one dicot and monocot Lipase3 protein, indicating that the gene family was established before the split of dicots and monocots. Similar intron/exon numbers and predicted protein sequence lengths were found within individual groups. Twenty-four tandem Lipase3 gene duplications were identified, implying that the distinctive function of Lipase3 genes appears to be a consequence of translocation and neofunctionalization after gene duplication. The functional genes EDS1, PAD4, and SAG101 that are reportedly involved in pathogen response were all located in the same group. The nucleotide diversity (Dxy) and the ratio of nonsynonymous to synonymous nucleotide substitutions rates (Ka/Ks) of the three genes were significantly greater than the average across the genomes. We further observed evidence for selection maintaining diversity on three genes in the Toll-Interleukin-1 receptor type of nucleotide binding/leucine-rich repeat immune receptor (TIR-NBS LRR) immunity-response signaling pathway, indicating that they could be vulnerable to pathogen effectors.

  10. Poverty among Young Children in Black Immigrant, US-Born Black, and Non-Black Immigrant Families: The Role of Familial Contexts. Discussion Paper Series. DP 2010-02

    ERIC Educational Resources Information Center

    Thomas, Kevin J. A.

    2010-01-01

    This study examines how familial contexts affect poverty disparities between the children of immigrant and US-born Blacks, and among Black and non-Black children of immigrants. Despite lower gross child poverty rates in immigrant than US-born Black families, accounting for differences in family structure reveals that child poverty risks among…

  11. Measuring family functioning in families with parental cancer: Reliability and validity of the German adaptation of the Family Assessment Device (FAD).

    PubMed

    Beierlein, Volker; Bultmann, Johanna Christine; Möller, Birgit; von Klitzing, Kai; Flechtner, Hans-Henning; Resch, Franz; Herzog, Wolfgang; Brähler, Elmar; Führer, Daniel; Romer, Georg; Koch, Uwe; Bergelt, Corinna

    2017-02-01

    The concept of family functioning is gaining importance in psycho-oncology research and health care services. The Family Assessment Device (FAD) is a well-established measure of family functioning. Psychometric properties inherent in the German 51-item adaptation of the FAD are examined in different samples of families with parental cancer. Acceptance, reliability, and validity of FAD scales are analysed in samples from different study settings (N=1701 cancer patients, N=261 partners, N=158 dependent adolescent children 11 to 18years old). Missing items in the FAD scales (acceptance) are rare for adults (<1.1%) and adolescent children (<4.4%). In samples of adults and older adolescents (15 to 18years), all FAD scales except for the Roles scale are significantly reliable (0.75≤Cronbach's α≤0.88). The scales correlate highly (0.46≤Pearson's r≤0.59) with the criterion satisfaction with family life (convergent validity), and have smaller correlations (0.16≤r≤0.49) with measures of emotional distress and subjective well-being (divergent validity). In most FAD scales, adults seeking family counselling report worse family functioning (0.24≤Cohen's d≤0.59) than adults in other samples with parental cancer (discriminative validity). Overall, the German 51-item adaptation of the FAD reveals good acceptance, reliability, and validity for cancer patients and their relatives. Particularly the scale General Functioning shows excellent psychometric properties. The FAD is suitable in the assessment of families with parental cancer for adults and adolescents older than 11years. Copyright © 2016 Elsevier Inc. All rights reserved.

  12. Crystal structures of the Erp protein family members ErpP and ErpC from Borrelia burgdorferi reveal the reason for different affinities for complement regulator factor H.

    PubMed

    Brangulis, Kalvis; Petrovskis, Ivars; Kazaks, Andris; Akopjana, Inara; Tars, Kaspars

    2015-05-01

    Borrelia burgdorferi is the causative agent of Lyme disease, which can be acquired after the bite of an infected Ixodes tick. As a strategy to resist the innate immunity and to successfully spread and proliferate, B. burgdorferi expresses a set of outer membrane proteins that are capable of binding complement regulator factor H (CFH), factor H-like protein 1 (CFHL-1) and factor H-related proteins (CFHR) to avoid complement-mediated killing. B. burgdorferi B31 contains three proteins that belong to the Erp (OspE/F-related) protein family and are capable of binding CFH and some CFHRs, namely ErpA, ErpC and ErpP. We have determined the crystal structure of ErpP at 2.53Å resolution and the crystal structure of ErpC at 2.15Å resolution. Recently, the crystal structure of the Erp family member OspE from B. burgdorferi N40 was determined in complex with CFH domains 19-20, revealing the residues involved in the complex formation. Despite the high sequence conservation between ErpA, ErpC, ErpP and the homologous protein OspE (78-80%), the affinity for CFH and CFHRs differs markedly among the Erp family members, suggesting that ErpC may bind only CFHRs but not CFH. A comparison of the binding site in OspE with those of ErpC and ErpP revealed that the extended loop region, which is only observed in the potential binding site of ErpC, plays an important role by preventing the binding of CFH. These results can explain the inability of ErpC to bind CFH, whereas ErpP and ErpA still possess the ability to bind CFH. Copyright © 2015 Elsevier B.V. All rights reserved.

  13. A novel class of dual-family immunophilins.

    PubMed

    Adams, Brian; Musiyenko, Alla; Kumar, Rajinder; Barik, Sailen

    2005-07-01

    Immunophilins are protein chaperones with peptidylprolyl isomerase activity that belong to one of two large families, the cyclosporin-binding cyclophilins (CyPs) and the FK506-binding proteins (FKBPs). Each family displays characteristic and conserved sequence features that differ between the two families. We report a novel group of dual-family immunophilins that contain both CyP and FKBP domains for which we propose the name FCBP (FK506- and cyclosporin-binding protein). The FCBP of Toxoplasma gondii, a protozoan parasite, contained N-terminal FKBP and C-terminal CyP domains joined by tetratricopeptide repeats. Structure-function analysis revealed that both domains were functional and exhibited family-specific drug sensitivity. The individual domains of FCBP inhibited calcineurin (protein phosphatase 2B) in the presence of the appropriate drugs. In binding studies, FCBP recruited calcineurin in the presence of FK506 and a putative target of rapamycin homolog in the presence of rapamycin. Two additional FCBP sequences in Flavobacterium and one in Treponema (spirochete) were also identified in which the CyP and FKBP domains were in the reverse order. T. gondii growth was inhibited by cyclosporin and FK506 in a moderately synergistic manner. The knockdown of FCBP by RNA interference revealed its essentiality for T. gondii growth. Clearly, the FCBPs are novel chaperones and potential targets of multiple immunosuppressant drugs.

  14. Preventing Adolescent Depression with the Family Check-Up: Examining Family Conflict as a Mechanism of Change

    PubMed Central

    Fosco, Gregory M.; Van Ryzin, Mark J.; Connell, Arin M.; Stormshak, Elizabeth A.

    2015-01-01

    Family-centered prevention programs are understudied for their effects on adolescent depression, despite considerable evidence that supports their effectiveness for preventing escalation in youth problem behavior and substance use. This study was conducted with 2 overarching goals: (a) replicate previous work that has implicated the Family Check-Up (FCU), a multilevel, gated intervention model embedded in public middle schools, as an effective strategy for preventing growth in adolescent depressive symptoms and (b) test whether changes in family conflict may be an explanatory mechanism for the long-term, protective effects of the FCU with respect to adolescent depression. This trial was conducted with 593 ethnically diverse families who were randomized to intervention (offered the FCU) or middle school as usual. Complier average causal effect (CACE) analysis revealed that engagers in the FCU evidenced less growth in depressive symptoms and family conflict from 6th through 9th grade and post-hoc analyses indicated that the FCU is related to lower rates of Major Depressive Disorder. The second set of analyses examined family conflict as a mechanism of change for families who participated in the FCU. Families who reported short-term intervention benefits had significantly less escalation in family conflict over the middle school years; in turn, growth in family conflict explained risk for adolescent depressive symptoms. PMID:26414418

  15. Preventing adolescent depression with the family check-up: Examining family conflict as a mechanism of change.

    PubMed

    Fosco, Gregory M; Van Ryzin, Mark J; Connell, Arin M; Stormshak, Elizabeth A

    2016-02-01

    Family-centered prevention programs are understudied for their effects on adolescent depression, despite considerable evidence that supports their effectiveness for preventing escalation in youth problem behavior and substance use. This study was conducted with 2 overarching goals: (a) replicate previous work that has implicated the Family Check-Up (FCU), a multilevel, gated intervention model embedded in public middle schools, as an effective strategy for preventing growth in adolescent depressive symptoms and (b) test whether changes in family conflict may be an explanatory mechanism for the long-term, protective effects of the FCU with respect to adolescent depression. This trial was conducted with 593 ethnically diverse families who were randomized to intervention (offered the FCU) or middle school as usual. Complier average causal effect (CACE) analysis revealed that engagers in the FCU evidenced less growth in depressive symptoms and family conflict from 6th through 9th grade, and post hoc analyses indicated that the FCU is related to lower rates of major depressive disorder. The second set of analyses examined family conflict as a mechanism of change for families who participated in the FCU. Families who reported short-term intervention benefits had significantly less escalation in family conflict over the middle school years; in turn, growth in family conflict explained risk for adolescent depressive symptoms. (c) 2016 APA, all rights reserved).

  16. Parent-Adolescent Conflict in African American Families.

    PubMed

    Skinner, Olivenne D; McHale, Susan M

    2016-10-01

    Parent-adolescent conflict is frequent in families and has implications for youth adjustment and family relationships. Drawing on a family systems perspective, we examined mothers', fathers', and two adolescent-aged siblings' (50.5 % females) reports of parent-adolescent conflict in 187 African American families. Using latent profile analysis in the context of an ethnic homogeneous design, we identified three family types based on levels of and differences between parent and youth conflict reports: low conflict, father high conflict, and younger sibling high conflict. Compared to low conflict families, youth in younger sibling high conflict families reported more depressive symptoms and risky behaviors. The results for parents' acceptance revealed that, in comparison to low conflict families, older siblings in father high conflict families reported lower acceptance from mothers, and mothers in these families reported lower acceptance of their children; further, older siblings in younger sibling high conflict families reported less acceptance from fathers, and fathers in these families reported less acceptance of their children. Results underscore the significance of levels of and both differences between and direction of differences in parents' and youth's reports of their "shared" experiences, as well as the importance of examining the larger family contexts of dyadic parent-relationships.

  17. Family functioning and trait emotional intelligence among youth.

    PubMed

    Alavi, Masoumeh; Mehrinezhad, Seyed Abolghasem; Amini, Mansour; Parthaman Singh, Minder Kaur A/P

    2017-01-01

    This study explored the relationship between family functioning and trait emotional intelligence among 547 respondents, between the age of 16 and 24 years from Malaysia, Iran, China, Sudan, Somalia, Morocco, the United Kingdom, Germany and the Netherlands. The questionnaires were Family Adaptability and Cohesion Evaluation Scale III and Trait Emotional Intelligence Questionnaire Short Form. Pearson correlation analysis revealed a significant relationship between family functioning and trait emotional intelligence. The higher the family functioning, the higher the trait emotional intelligence among youths. The findings provide a deeper understanding in the field of family functioning and trait emotional intelligence and have implications for parents, administrators and child relationships dealing with trait emotional intelligence.

  18. Changing Family Habits: A Case Study into Climate Change Mitigation Behavior in Families

    ERIC Educational Resources Information Center

    Leger, Michel T.; Pruneau, Diane

    2012-01-01

    A case-study methodology was used to explore the process of change as experienced by 3 suburban families in an attempt to incorporate climate change mitigation behavior into their day to day life. Cross-case analysis of the findings revealed the emergence of three major conceptual themes associated with behavior adoption: collectively applied…

  19. An Evaluation of Family-Centered Rounds in the PICU: Room for Improvement Suggested by Families and Providers.

    PubMed

    Levin, Amanda B; Fisher, Kiondra R; Cato, Krista D; Zurca, Adrian D; October, Tessie W

    2015-11-01

    To identify areas for improvement in family-centered rounds from both the family and provider perspectives. Prospective, cross-sectional mixed-methods study, including an objective measure (direct observation of family-centered rounds) and subjective measures (surveys of English-speaking families and providers) of family-centered rounds. PICU in a single, tertiary children's hospital. Families of children admitted to the PICU, physicians, and nurses. None. Two hundred thirty-two family-centered round encounters were observed over a 10-week period. Family-centered round encounters averaged 10.5 minutes per child. Multivariable regression analysis revealed that family presence was independently associated with length of family-centered rounds (p < 0.002) despite family talk time accounting for an average of 25 seconds (4%) of the encounter. Non-English-speaking families were less likely to attend family-centered rounds compared with English-speaking families even when physically present at the patient's bedside (p < 0.001). Most commonly families and providers agreed that family-centered rounds keep the family informed and reported positive statements about family presence on family-centered rounds; however, PICU fellows did not agree that families provided pertinent information and nurses reported that family presence limited patient discussions. The primary advice families offered providers to improve family-centered rounds was to be more considerate and courteous, including accommodating family schedules, minimizing distractions, and limiting computer viewing. Family presence increased the length of family-centered rounds despite a small percentage of time spoken by families, suggesting longer rounds are due to changes in provider behavior when families are present. Also, non-English-speaking families may need more support to be able to attend and benefit from family-centered rounds. Lastly, in an era of full family-centered rounds acceptance, families and most

  20. Seawater and shellfish (Geukensia demissa) quality along the Western Coast of Assateague Island National Seashore, Maryland: an area impacted by feral horses and agricultural runoff.

    PubMed

    Lambert, Mary S; Ozbay, Gulnihal; Richards, Gary P

    2009-08-01

    We evaluated the quality of seawater and ribbed mussels (Gukensia demissa) at six sites along the West Coast of Assateague Island National Seashore (ASIS), a barrier island popular with tourists and fishermen. Parameters evaluated were summertime temperature, pH, salinity, dissolved oxygen, total phosphorus, total ammonia nitrogen, and nitrite levels for seawater and total heterotrophic plate counts and total Vibrionaceae levels for the ribbed mussels. Approximately 150 feral horses (Equus caballus) are located on ASIS and, combined with agricultural runoff from animals and croplands, local wildlife, and anthropogenic inputs, contribute to nutrient loads affecting water and shellfish quality. The average monthly dissolved oxygen for June was 2.65 mg L(-1), below the minimum acceptable threshold of 3.0 mg L(-1). Along Chincoteague Bay, total phosphorus generally exceeded the maximum level of 0.037 mg L(-1), as set by the Maryland Coastal Bays Program management objective for seagrasses, with a high of 1.92 mg L(-1) in June, some 50-fold higher than the recommended threshold. Total ammonia nitrogen approached levels harmful to fish, with a maximum recorded value of 0.093 mg L(-1). Levels of total heterotrophic bacteria spiked to 9.5 x 10(6) cells g(-1) of mussel tissue in August in Sinepuxent Bay, leading to mussels which exceeded acceptable standards for edible bivalves by 19-fold. An average of 76% of the bacterial isolates were in the Vibrionaceae family. Together, these data suggest poor stewardship of our coastal environment and the need for new intervention strategies to reduce chemical and biological contamination of our marine resources.

  1. Novel KCNQ3 Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures

    PubMed Central

    Maljevic, Snezana; Vejzovic, Sabina; Bernhard, Matthias K.; Bertsche, Astrid; Weise, Sebastian; Döcker, Miriam; Lerche, Holger; Lemke, Johannes R.; Merkenschlager, Andreas; Syrbe, Steffen

    2016-01-01

    Benign familial neonatal seizures (BFNS) present a rare familial epilepsy syndrome caused by genetic alterations in the voltage-gated potassium channels Kv7.2 and Kv7.3, encoded by KCNQ2 and KCNQ3. While most BFNS families carry alterations in KCNQ2, mutations in KCNQ3 appear to be less common. Here, we describe a family with 6 individuals presenting with neonatal focal and generalized seizures. Genetic testing revealed a novel KCNQ3 variant, c.835G>T, cosegregating with seizures in 4 tested individuals. This variant results in a substitution of the highly conserved amino acid valine localized within the pore-forming transmembrane segment S5 (p.V279F). Functional investigations in Xenopus laevis oocytes revealed a loss of function, which supports p.V279F as a pathogenic mutation. When p.V279F was coexpressed with the wild-type (WT) Kv7.2 subunits, the resulting potassium currents were about 10-fold reduced compared to the WT Kv7.3 and Kv7.2 coexpression. Genotype-phenotype correlation shows an incomplete penetrance of p.V279F. Response to antiepileptic treatment was variable, but evaluation of treatment response remained challenging due to the self-limiting character of the disease. The identification of the pathogenic variant helped to avoid unnecessary investigations in affected family members and allowed guided therapy. PMID:27781029

  2. Novel KCNQ3 Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures.

    PubMed

    Maljevic, Snezana; Vejzovic, Sabina; Bernhard, Matthias K; Bertsche, Astrid; Weise, Sebastian; Döcker, Miriam; Lerche, Holger; Lemke, Johannes R; Merkenschlager, Andreas; Syrbe, Steffen

    2016-09-01

    Benign familial neonatal seizures (BFNS) present a rare familial epilepsy syndrome caused by genetic alterations in the voltage-gated potassium channels Kv7.2 and Kv7.3, encoded by KCNQ2 and KCNQ3. While most BFNS families carry alterations in KCNQ2 , mutations in KCNQ3 appear to be less common. Here, we describe a family with 6 individuals presenting with neonatal focal and generalized seizures. Genetic testing revealed a novel KCNQ3 variant, c.835G>T, cosegregating with seizures in 4 tested individuals. This variant results in a substitution of the highly conserved amino acid valine localized within the pore-forming transmembrane segment S5 (p.V279F). Functional investigations in Xenopus laevis oocytes revealed a loss of function, which supports p.V279F as a pathogenic mutation. When p.V279F was coexpressed with the wild-type (WT) Kv7.2 subunits, the resulting potassium currents were about 10-fold reduced compared to the WT Kv7.3 and Kv7.2 coexpression. Genotype-phenotype correlation shows an incomplete penetrance of p.V279F. Response to antiepileptic treatment was variable, but evaluation of treatment response remained challenging due to the self-limiting character of the disease. The identification of the pathogenic variant helped to avoid unnecessary investigations in affected family members and allowed guided therapy.

  3. Family Services: Role of the Center-Based Teaching Professional.

    ERIC Educational Resources Information Center

    Ponchillia, Paul E.

    1984-01-01

    A survey of 38 administrators of rehabilitation centers serving blind and visually impaired persons revealed opinions about the major causes of family problems (such as overprotection and financial problems), suggested means of ameliorating these problems, and decribed other types of family services offered by their agencies. (Author/CL)

  4. Portrayal of Families on Prime-Time TV: Structure, Type and Frequency.

    ERIC Educational Resources Information Center

    Skill, Thomas; And Others

    1987-01-01

    Documents the range and extent of family life configurations in prime-time television over a six-year period (1979-1985). Reveals that prime-time network television tends to reinforce conservative to moderate models of family life, while also presenting a diversity of nonstandard interpretations of family which are framed in the nonthreatening…

  5. Stress in Latino Families Following an Adolescent’s Childbearing: Effects on Family Relationships and Siblings

    PubMed Central

    East, Patricia L.; Chien, Nina C.

    2013-01-01

    This study examined how increased stress in Latino families following an adolescent’s childbearing impacts family relationships and the adolescent’s siblings. Participants were 243 Mexican American youth (mean age: 13.7 years; 62% girls), or 121 youth who had a pregnant adolescent sister and 122 youth who had an adolescent sister who had never been pregnant. Youth and their mothers were studied at 4 time points across 15 months: The families of pregnant adolescents were studied when the adolescent sister was in her third trimester of pregnancy, and at 2 months, 6 months, and 12 months postpartum; the families of never-pregnant adolescents were studied at like intervals. Individual fixed-effects structural equation models were computed, which control for earlier measures of study constructs and thereby reduce omitted variable bias from preexisting family group differences. Results showed that an adolescent’s childbearing was related to increases in family stress, which were related to increases in mothers’ harsh parenting and mother–sibling conflict, which, in turn, were related to subsequent increases in siblings’ problem behavior. Multiple group analyses revealed that the pathways through which a teenager’s childbearing influences siblings operate similarly for girls and boys. Tests of an alternate ordering of model variables indicated a poor fit with the data. Findings provide evidence that the accumulation of stressful family changes following an adolescent’s childbearing can negatively impact siblings. Findings also elucidate how family-level stress and disruption experienced across a family transition trickle down to affect family relationships and, in turn, child family members. PMID:23458699

  6. Family Structure, Residential Mobility, and Environmental Inequality

    PubMed Central

    Downey, Liam; Crowder, Kyle; Kemp, Robert J.

    2016-01-01

    This study combines micro-level data on families with children from the Panel Study of Income Dynamics with neighborhood-level industrial hazard data from the Environmental Protection Agency and neighborhood-level U.S. census data to examine both the association between family structure and residential proximity to neighborhood pollution and the micro-level, residential mobility processes that contribute to differential pollution proximity across family types. Results indicate the existence of significant family structure differences in household proximity to industrial pollution in U.S. metropolitan areas between 1990 and 1999, with single-mother and single-father families experiencing neighborhood pollution levels that are on average 46% and 26% greater, respectively, than those experienced by two-parent families. Moreover, the pollution gap between single-mother and two-parent families persists with controls for household and neighborhood socioeconomic, sociodemographic, and race/ethnic characteristics. Examination of underlying migration patterns reveals that single-mother, single-father, and two-parent families are equally likely to move in response to pollution. However, mobile single-parent families move into neighborhoods with significantly higher pollution levels than do mobile two-parent families. Thus, family structure differences in pollution proximity are maintained more by these destination neighborhood differences than by family structure variations in the likelihood of moving out of polluted neighborhoods. PMID:28348440

  7. Work-family conflict among members of full-time dual-earner couples: an examination of family life stage, gender, and age.

    PubMed

    Allen, Tammy D; Finkelstein, Lisa M

    2014-07-01

    Based on cross-sectional data from the 2008 National Study of the Changing Workforce, this study investigates relationships between gender, age, and work-family conflict across 6 family life stages. Participants were 690 married/partnered employees who worked 35 or more hours a week. Results indicated a small but negative relationship between age and work-family conflict. Work-family conflict was also associated with family stage, with the least amount of conflict occurring during the empty nest stage and the most occurring when the youngest child in the home was 5 years of age or younger. Gender differences were also observed. Specifically, men reported more work interference with family than did women when the youngest child in the home was a teen. Women overall reported more family interference with work than did men. Results concerning age and gender revealed a different pattern demonstrating that family stage is not simply a proxy for age. Age had a main effect on work-to-family conflict that was monotonic in nature and on family to-work conflict that was linear in nature. In conclusion, the results indicate gender, age, and family stage each uniquely relate to work-family conflict.

  8. Lineage-specific expansion of IFIT gene family: an insight into coevolution with IFN gene family.

    PubMed

    Liu, Ying; Zhang, Yi-Bing; Liu, Ting-Kai; Gui, Jian-Fang

    2013-01-01

    In mammals, IFIT (Interferon [IFN]-induced proteins with Tetratricopeptide Repeat [TPR] motifs) family genes are involved in many cellular and viral processes, which are tightly related to mammalian IFN response. However, little is known about non-mammalian IFIT genes. In the present study, IFIT genes are identified in the genome databases from the jawed vertebrates including the cartilaginous elephant shark but not from non-vertebrates such as lancelet, sea squirt and acorn worm, suggesting that IFIT gene family originates from a vertebrate ancestor about 450 million years ago. IFIT family genes show conserved gene structure and gene arrangements. Phylogenetic analyses reveal that this gene family has expanded through lineage-specific and species-specific gene duplication. Interestingly, IFN gene family seem to share a common ancestor and a similar evolutionary mechanism; the function link of IFIT genes to IFN response is present early since the origin of both gene families, as evidenced by the finding that zebrafish IFIT genes are upregulated by fish IFNs, poly(I:C) and two transcription factors IRF3/IRF7, likely via the IFN-stimulated response elements (ISRE) within the promoters of vertebrate IFIT family genes. These coevolution features creates functional association of both family genes to fulfill a common biological process, which is likely selected by viral infection during evolution of vertebrates. Our results are helpful for understanding of evolution of vertebrate IFN system.

  9. Unconventional Superconductivity in La(7)Ir(3) Revealed by Muon Spin Relaxation: Introducing a New Family of Noncentrosymmetric Superconductor That Breaks Time-Reversal Symmetry.

    PubMed

    Barker, J A T; Singh, D; Thamizhavel, A; Hillier, A D; Lees, M R; Balakrishnan, G; Paul, D McK; Singh, R P

    2015-12-31

    The superconductivity of the noncentrosymmetric compound La(7)Ir(3) is investigated using muon spin rotation and relaxation. Zero-field measurements reveal the presence of spontaneous static or quasistatic magnetic fields below the superconducting transition temperature T(c)=2.25  K-a clear indication that the superconducting state breaks time-reversal symmetry. Furthermore, transverse-field rotation measurements suggest that the superconducting gap is isotropic and that the pairing symmetry of the superconducting electrons is predominantly s wave with an enhanced binding strength. The results indicate that the superconductivity in La(7)Ir(3) may be unconventional and paves the way for further studies of this family of materials.

  10. Family dynamics, hopelessness and psychiatric disturbance in parasuicidal adolescents.

    PubMed

    Pillay, A L; Wassenaar, D R

    1997-04-01

    Adolescent parasuicide has often has been associated with family disturbance, hopelessness and psychiatric disturbance, but little empirical work has been done to verify these clinical impressions. The present study compares matched groups of hospitalised parasuicidal adolescents, non-psychiatric medically hospitalised adolescents and a control group on measures of family disturbance, hopelessness and psychopathology. The findings reveal significantly higher levels of family disturbance, hopelessness and depressive symptoms in the parasuicidal group. The results suggest that prevention and treatment of adolescent parasuicide should focus on both individual and family dynamics.

  11. Familism, Family Environment, and Suicide Attempts among Latina Youth

    ERIC Educational Resources Information Center

    Pena, Juan B.; Kuhlberg, Jill A.; Zayas, Luis H.; Baumann, Ana A.; Gulbas, Lauren; Hausmann-Stabile, Carolina; Nolle, Allyson P.

    2011-01-01

    In this study, we examined the relationship between familism and family environment type as well as the relationship between family environment type and suicide attempts among Latina youth. Latina teen attempters (n = 109) and nonattempters (n = 107) were recruited from the New York City area. Latent class analysis revealed three family…

  12. Ligand-binding specificity and promiscuity of the main lignocellulolytic enzyme families as revealed by active-site architecture analysis.

    PubMed

    Tian, Li; Liu, Shijia; Wang, Shuai; Wang, Lushan

    2016-03-24

    Biomass can be converted into sugars by a series of lignocellulolytic enzymes, which belong to the glycoside hydrolase (GH) families summarized in CAZy databases. Here, using a structural bioinformatics method, we analyzed the active site architecture of the main lignocellulolytic enzyme families. The aromatic amino acids Trp/Tyr and polar amino acids Glu/Asp/Asn/Gln/Arg occurred at higher frequencies in the active site architecture than in the whole enzyme structure. And the number of potential subsites was significantly different among different families. In the cellulase and xylanase families, the conserved amino acids in the active site architecture were mostly found at the -2 to +1 subsites, while in β-glucosidase they were mainly concentrated at the -1 subsite. Families with more conserved binding amino acid residues displayed strong selectivity for their ligands, while those with fewer conserved binding amino acid residues often exhibited promiscuity when recognizing ligands. Enzymes with different activities also tended to bind different hydroxyl oxygen atoms on the ligand. These results may help us to better understand the common and unique structural bases of enzyme-ligand recognition from different families and provide a theoretical basis for the functional evolution and rational design of major lignocellulolytic enzymes.

  13. Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family.

    PubMed

    Mackey, D A; Hewitt, A W; Ruddle, J B; Vote, B; Buttery, R G; Toomes, C; Metlapally, R; Li, Y J; Tran-Viet, K N; Malecaze, F; Calvas, P; Rosenberg, T; Guggenheim, J A; Young, T L

    2011-01-01

    To describe an Australian pedigree of European descent with a variable autosomal dominant phenotype of: pediatric cortical cataract (CC), asymmetric myopia with astigmatism, familial exudative vitreoretinopathy (FEVR), and primary open-angle glaucoma (POAG). Probands with CC, FEVR, and POAG were enrolled in three independent genetic eye studies in Tasmania. Genealogy confirmed these individuals were closely related and subsequent examination revealed 11 other family members with some or all of the associated disorders. Twelve individuals had CC thought to be of childhood onset, with one child demonstrating progressive lenticular opacification. One individual had severe retinal detachment while five others had dragged retinal vessels. Seven individuals had POAG. Seven individuals had myopia in at least one eye ≤-3 Diopters. DNA testing excluded mutations in myocilin, trabecular meshwork inducible glucocorticoid response (MYOC) and tetraspanin 12 (TSPAN12). Haplotype analysis excluded frizzled family receptor 4 (FZD4) and low density lipoprotein receptor-related protein 5 (LRP5), but only partly excluded EVR3. Multipoint linkage analysis revealed multiple chromosomal single-nucleotide polymorphisms (SNPs) of interest, but no statistically significant focal localization. This unusual clustering of ophthalmic diseases suggests a possible single genetic cause for an apparently new cataract syndrome. This family's clinical ocular features may reflect the interplay between retinal disease with lenticular changes and axial length in the development of myopia and glaucoma.

  14. Genomic Selection For Bacterial Cold Water Disease Resistance In Rainbow Trout Reveals Large Within-Family Variation That Cannot Be Exploited In Traditional Family-based Selective Breeding

    USDA-ARS?s Scientific Manuscript database

    Selective breeding is an effective strategy to improve resistance to specific pathogens, and thus has the potential to mitigate antibiotic use in aquaculture. Large family sizes of aquaculture species permits family-based selective breeding programs, but the need for specific-pathogen-free nucleus p...

  15. Male-Partnered Bisexual Women's Perceptions of Disclosing Sexual Orientation to Family Across the Transition to Parenthood: Intensifying Heteronormativity or Queering Family?

    PubMed

    Goldberg, Abbie E; Allen, Katherine R; Ellawala, Themal; Ross, Lori E

    2018-01-01

    Drawing from queer and communication privacy management frameworks, this study examines the narratives of 22 bisexual, male-partnered women who were interviewed during the perinatal period and one year postnatally about their disclosures of sexual identity to family of origin. Most women rarely discussed their sexual identity with family; participants who had disclosed described such disclosures as provoking discomfort. Some women stated that their parental status seemed to invalidate the need to talk about their sexual history or identity with family, due its declining salience and increased concerns about judgment. This study reveals how partnership and parenthood statuses contribute to the intensification of heteronormative pressures in relation to family. Therapists should attend to the role of heteronormative values regarding partnering, family-building, and parenting. © 2017 American Association for Marriage and Family Therapy.

  16. Determining Family Needs on an Oncology Hospital Unit Using Interview, Art, and Survey.

    PubMed

    Catlin, Anita; Ford, Marilee; Maloney, Carrie

    2016-04-01

    A movement worldwide, and specifically new to our hospital, is the implementation of Patient- and Family-Centered Care. We were unsure, however, what the needs were of our patients' families. This triangulated study, on a 28-bed oncology unit, studied family members at the bedside. We asked family members what their needs were in a three-step process (open-ended interview, use of the Draw a Bridge art therapy technique, and the Family Inventory of Needs survey). Nineteen interviews revealed needs for physical comfort, emotional support, cultural sensitivity, recognition of help provided by family members and improved pain management. Art therapy revealed the stress of caregiving and helped to uncover unmet needs for interviewers to explore. The FIN identified that care at home after discharge was a major worry. Knowledge of family members' needs while a loved one is in the hospital allows for planning and provision of modalities to assist them in their caregiving. © The Author(s) 2015.

  17. All in the family: media presentations of family assisted suicide in Britain.

    PubMed

    Birenbaum-Carmeli, Daphna; Banerjee, Albert; Taylor, Steve

    2006-10-01

    This paper presents a preliminary investigation of the press coverage of family assisted suicide in Britain during the mid to late 1990s. The newspaper articles we examine focus on court cases in which a family member had been charged with assisting a terminally ill relative to put an end to their lives. The paper aims to typify basic characteristics of the coverage and to explore their potential political implications. The observations reveal a consistently supportive stance towards family assisted suicide that is produced by depictions of dying persons and perpetrators as autonomous and conscientious individuals; by idyllic portrayals of family relations; and by praising judges for their lenient verdicts. Presentations of the law as a dated State system, as well as the marginalization of opposing voices, further enhanced the supportive message. We suggest that the commending of actors' self-reliance and the call for decreased State interference in personal affairs aligns with the neo-liberal spirit that has come into prominence in Britain since the 1980s. Within this context, we raise some questions regarding the broader political significance of such media representations.

  18. Work and Family in the Virtual Office: Perceived Influences of Mobile Telework.

    ERIC Educational Resources Information Center

    Hill, E. Jeffrey; And Others

    1996-01-01

    Explored influences of mobile telework on family life as reported by teleworkers in a large national corporation. Compared this group to office workers within the same company. Teleworkers reported greater work flexibility. Some described positive family influences, whereas others revealed family problems arising from blurred lines between work…

  19. The impact of social and family-related factors on women's stress experience in household and family work.

    PubMed

    Sperlich, Stefanie; Geyer, Siegfried

    2015-03-01

    This study explores the contribution of social and family-related factors to women's experience of an effort-reward imbalance (ERI) in household and family work. Using a population-based sample of German mothers (n = 3,129), we performed stepwise logistic regression analysis in order to determine the relative impact of social and family-related factors on ERI. All factors investigated showed a significant association with at least one ERI component. Considering all predictors simultaneously in the multivariate analysis resulted in a decrease in significance of socioeconomic status in explaining the effort-reward ratio while the impact on low reward partly remained significant. In addition, age of youngest child, number of children, lower levels of perceived social support, domestic work inequity and negative work-to-family spillover, irrespective of being half- or full-time employed, revealed to be important in predicting ERI. The experience of ERI in domestic work is influenced by the social and family environment. Particularly among socially disadvantaged mothers, lack of social recognition for household and family work proved to be a relevant source of psychosocial stress.

  20. The Caenorhabditis chemoreceptor gene families.

    PubMed

    Thomas, James H; Robertson, Hugh M

    2008-10-06

    Chemoreceptor proteins mediate the first step in the transduction of environmental chemical stimuli, defining the breadth of detection and conferring stimulus specificity. Animal genomes contain families of genes encoding chemoreceptors that mediate taste, olfaction, and pheromone responses. The size and diversity of these families reflect the biology of chemoperception in specific species. Based on manual curation and sequence comparisons among putative G-protein-coupled chemoreceptor genes in the nematode Caenorhabditis elegans, we identified approximately 1300 genes and 400 pseudogenes in the 19 largest gene families, most of which fall into larger superfamilies. In the related species C. briggsae and C. remanei, we identified most or all genes in each of the 19 families. For most families, C. elegans has the largest number of genes and C. briggsae the smallest number, suggesting changes in the importance of chemoperception among the species. Protein trees reveal family-specific and species-specific patterns of gene duplication and gene loss. The frequency of strict orthologs varies among the families, from just over 50% in two families to less than 5% in three families. Several families include large species-specific expansions, mostly in C. elegans and C. remanei. Chemoreceptor gene families in Caenorhabditis species are large and evolutionarily dynamic as a result of gene duplication and gene loss. These dynamics shape the chemoreceptor gene complements in Caenorhabditis species and define the receptor space available for chemosensory responses. To explain these patterns, we propose the gray pawn hypothesis: individual genes are of little significance, but the aggregate of a large number of diverse genes is required to cover a large phenotype space.

  1. The Caenorhabditis chemoreceptor gene families

    PubMed Central

    Thomas, James H; Robertson, Hugh M

    2008-01-01

    Background Chemoreceptor proteins mediate the first step in the transduction of environmental chemical stimuli, defining the breadth of detection and conferring stimulus specificity. Animal genomes contain families of genes encoding chemoreceptors that mediate taste, olfaction, and pheromone responses. The size and diversity of these families reflect the biology of chemoperception in specific species. Results Based on manual curation and sequence comparisons among putative G-protein-coupled chemoreceptor genes in the nematode Caenorhabditis elegans, we identified approximately 1300 genes and 400 pseudogenes in the 19 largest gene families, most of which fall into larger superfamilies. In the related species C. briggsae and C. remanei, we identified most or all genes in each of the 19 families. For most families, C. elegans has the largest number of genes and C. briggsae the smallest number, suggesting changes in the importance of chemoperception among the species. Protein trees reveal family-specific and species-specific patterns of gene duplication and gene loss. The frequency of strict orthologs varies among the families, from just over 50% in two families to less than 5% in three families. Several families include large species-specific expansions, mostly in C. elegans and C. remanei. Conclusion Chemoreceptor gene families in Caenorhabditis species are large and evolutionarily dynamic as a result of gene duplication and gene loss. These dynamics shape the chemoreceptor gene complements in Caenorhabditis species and define the receptor space available for chemosensory responses. To explain these patterns, we propose the gray pawn hypothesis: individual genes are of little significance, but the aggregate of a large number of diverse genes is required to cover a large phenotype space. PMID:18837995

  2. Insights Gained from the Use of Genograms To Analyze Communication Dimensions in Family Systems.

    ERIC Educational Resources Information Center

    Brommel, Bernard J.

    Genograms (a "psychological" family tree) can reveal how the family communicates about its past. The drawing of the family tree becomes an exercise in communication. In a classroom assignment, students can do their own genogram or create one by doing interviews with a family to gain insights into various dimensions of the family's…

  3. Children's Use of Retreats in Family Child Care Homes

    ERIC Educational Resources Information Center

    Weinberger, Nanci

    2006-01-01

    The use of retreat spaces by 65 children in 9 family child care homes was assessed in this study. Family child care providers used daily diaries to collect information about children's retreat frequency and associated behavior. The findings revealed that nearly half of the children used informal, readily available retreats during the research…

  4. Family relationships and depressive symptoms preceding induced abortion.

    PubMed

    Bluestein, D; Rutledge, C M

    1993-06-01

    This study examines the association between depressive symptoms preceding induced abortion and dissatisfaction with family relationships. In a cross-sectional survey, 304 women undergoing a first-trimester abortion completed a short version of the Center for Epidemiologic Studies Depression Scale, the Family APGAR, and a researcher-designed questionnaire. Bivariate analyses revealed that depressive symptoms decreased as measures of age, educational attainment, Family APGAR scores, marriage, and subjective health increased. Depressive symptoms increased as measures of denial, difficulties communicating with male partners, pregnancy symptoms, contraceptive use, and dissatisfaction with choosing abortion increased. Controlling for the effects of these significant bivariate associations, increased depressive symptoms were independently predicted by Family APGAR scores, age, communications difficulties, pregnancy symptoms, contraceptive use, and denial. Low Family APGAR scores exhibited the strongest overall effect. Clinicians who encounter women experiencing depressive symptoms preceding abortion may wish to explore family relationships and the possibility of underlying family dysfunction.

  5. The Family Check-Up With High-Risk Indigent Families: Preventing Problem Behavior by Increasing Parents’ Positive Behavior Support in Early Childhood

    PubMed Central

    Dishion, Thomas J.; Connell, Arin; Weaver, Chelsea; Shaw, Daniel; Gardner, Frances; Wilson, Melvin

    2009-01-01

    Seven hundred thirty-one income-eligible families in 3 geographical regions who were enrolled in a national food supplement program were screened and randomized to a brief family intervention. At child ages 2 and 3, the intervention group caregivers were offered the Family Check-Up and linked parenting support services. Latent growth models on caregiver reports at child ages 2, 3, and 4 revealed decreased behavior problems when compared with the control group. Intervention effects occurred predominantly among families reporting high levels of problem behavior at child age 2. Families in the intervention condition improved on direct observation measures of caregivers’ positive behavior support at child ages 2 and 3; improvements in positive behavior support mediated improvements in children's early problem behavior. PMID:18826532

  6. Family food involvement and frequency of family dinner meals among Australian children aged 10-12years. Cross-sectional and longitudinal associations with dietary patterns.

    PubMed

    Leech, Rebecca M; McNaughton, Sarah A; Crawford, David A; Campbell, Karen J; Pearson, Natalie; Timperio, Anna

    2014-04-01

    Involvement in meal preparation and eating meals with the family are associated with better dietary patterns in adolescents, however little research has included older children or longitudinal study designs. This 3-year longitudinal study examines cross-sectional and longitudinal associations between family food involvement, family dinner meal frequency and dietary patterns during late childhood. Questionnaires were completed by parents of 188 children from Greater Melbourne, Australia at baseline in 2002 (mean age=11.25years) and at follow-up in 2006 (mean age=14.16years). Principal components analysis (PCA) was used to identify dietary patterns. Factor analysis (FA) was used to determine the principal factors from six indicators of family food involvement. Multiple linear regression models were used to predict the dietary patterns of children and adolescents at baseline and at follow-up, 3years later, from baseline indicators of family food involvement and frequency of family dinner meals. PCA revealed two dietary patterns, labeled a healthful pattern and an energy-dense pattern. FA revealed one factor for family food involvement. Cross-sectionally among boys, family food involvement score (β=0.55, 95% CI: 0.02, 1.07) and eating family dinner meals daily (β=1.11, 95% CI: 0.27, 1.96) during late childhood were positively associated with the healthful pattern. Eating family dinner meals daily was inversely associated with the energy-dense pattern, cross-sectionally among boys (β=-0.56, 95% CI: -1.06, -0.06). No significant cross-sectional associations were found among girls and no significant longitudinal associations were found for either gender. Involvement in family food and eating dinner with the family during late childhood may have a positive influence on dietary patterns of boys. No evidence was found to suggest the effects on dietary patterns persist into adolescence. Copyright © 2014 Elsevier Ltd. All rights reserved.

  7. Screening for large genomic rearrangements in the FANCA gene reveals extensive deletion in a Finnish breast cancer family.

    PubMed

    Solyom, Szilvia; Winqvist, Robert; Nikkilä, Jenni; Rapakko, Katrin; Hirvikoski, Pasi; Kokkonen, Hannaleena; Pylkäs, Katri

    2011-03-28

    A portion of familial breast cancer cases are caused by mutations in the same genes that are inactivated in the downstream part of Fanconi anemia (FA) signaling pathway. Here we have assessed the FANCA gene for breast cancer susceptibility by examining blood DNA for aberrations from 100 Northern Finnish breast cancer families using the MLPA method. We identified a novel heterozygous deletion, removing the promoter and 12 exons of the gene in one family. This allele was absent from 124 controls. We conclude that FANCA deletions might contribute to breast cancer susceptibility, potentially in combination with other germline mutations. To our knowledge, this is the first study reporting a large deletion in an upstream FA gene in familial breast cancer. Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.

  8. Evolution and expression analysis reveal the potential role of the HD-Zip gene family in regulation of embryo abortion in grapes (Vitis vinifera L.).

    PubMed

    Li, Zhiqian; Zhang, Chen; Guo, Yurui; Niu, Weili; Wang, Yuejin; Xu, Yan

    2017-09-21

    The HD-Zip family has a diversity of functions during plant development. In this study, we identify 33 HD-Zip transcription factors in grape and detect their expressions in ovules and somatic embryos, as well as in various vegetative organs. A genome-wide survey for HD-Zip transcription factors in Vitis was conducted based on the 12 X grape genome (V. vinifera L.). A total of 33 members were identified and classified into four subfamilies (I-IV) based on phylogeny analysis with Arabidopsis, rice and maize. VvHDZs in the same subfamily have similar protein motifs and intron/exon structures. An evaluation of duplication events suggests several HD-Zip genes arose before the divergence of the grape and Arabidopsis lineages. The 33 members of HD-Zip were differentially expressed in ovules of the stenospermic grape, Thompson Seedless and of the seeded grape, Pinot noir. Most have higher expressions during ovule abortion in Thompson Seedless. In addition, transcripts of the HD-Zip family were also detected in somatic embryogenesis of Thompson Seedless and in different vegetative organs of Thompson Seedless at varying levels. Additionally, VvHDZ28 is located in the nucleus and had transcriptional activity consistent with the typical features of the HD-Zip family. Our results provide a foundation for future grape HD-Zip gene function research. The identification and expression profiles of the HD-Zip transcription factors in grape, reveal their diverse roles during ovule abortion and organ development. Our results lay a foundation for functional analysis of grape HDZ genes.

  9. Predicting the Proteins of Angomonas deanei, Strigomonas culicis and Their Respective Endosymbionts Reveals New Aspects of the Trypanosomatidae Family

    PubMed Central

    Motta, Maria Cristina Machado; Martins, Allan Cezar de Azevedo; de Souza, Silvana Sant’Anna; Catta-Preta, Carolina Moura Costa; Silva, Rosane; Klein, Cecilia Coimbra; de Almeida, Luiz Gonzaga Paula; de Lima Cunha, Oberdan; Ciapina, Luciane Prioli; Brocchi, Marcelo; Colabardini, Ana Cristina; de Araujo Lima, Bruna; Machado, Carlos Renato; de Almeida Soares, Célia Maria; Probst, Christian Macagnan; de Menezes, Claudia Beatriz Afonso; Thompson, Claudia Elizabeth; Bartholomeu, Daniella Castanheira; Gradia, Daniela Fiori; Pavoni, Daniela Parada; Grisard, Edmundo C.; Fantinatti-Garboggini, Fabiana; Marchini, Fabricio Klerynton; Rodrigues-Luiz, Gabriela Flávia; Wagner, Glauber; Goldman, Gustavo Henrique; Fietto, Juliana Lopes Rangel; Elias, Maria Carolina; Goldman, Maria Helena S.; Sagot, Marie-France; Pereira, Maristela; Stoco, Patrícia H.; de Mendonça-Neto, Rondon Pessoa; Teixeira, Santuza Maria Ribeiro; Maciel, Talles Eduardo Ferreira; de Oliveira Mendes, Tiago Antônio; Ürményi, Turán P.; de Souza, Wanderley; Schenkman, Sergio; de Vasconcelos, Ana Tereza Ribeiro

    2013-01-01

    Endosymbiont-bearing trypanosomatids have been considered excellent models for the study of cell evolution because the host protozoan co-evolves with an intracellular bacterium in a mutualistic relationship. Such protozoa inhabit a single invertebrate host during their entire life cycle and exhibit special characteristics that group them in a particular phylogenetic cluster of the Trypanosomatidae family, thus classified as monoxenics. In an effort to better understand such symbiotic association, we used DNA pyrosequencing and a reference-guided assembly to generate reads that predicted 16,960 and 12,162 open reading frames (ORFs) in two symbiont-bearing trypanosomatids, Angomonas deanei (previously named as Crithidia deanei) and Strigomonas culicis (first known as Blastocrithidia culicis), respectively. Identification of each ORF was based primarily on TriTrypDB using tblastn, and each ORF was confirmed by employing getorf from EMBOSS and Newbler 2.6 when necessary. The monoxenic organisms revealed conserved housekeeping functions when compared to other trypanosomatids, especially compared with Leishmania major. However, major differences were found in ORFs corresponding to the cytoskeleton, the kinetoplast, and the paraflagellar structure. The monoxenic organisms also contain a large number of genes for cytosolic calpain-like and surface gp63 metalloproteases and a reduced number of compartmentalized cysteine proteases in comparison to other TriTryp organisms, reflecting adaptations to the presence of the symbiont. The assembled bacterial endosymbiont sequences exhibit a high A+T content with a total of 787 and 769 ORFs for the Angomonas deanei and Strigomonas culicis endosymbionts, respectively, and indicate that these organisms hold a common ancestor related to the Alcaligenaceae family. Importantly, both symbionts contain enzymes that complement essential host cell biosynthetic pathways, such as those for amino acid, lipid and purine/pyrimidine metabolism

  10. Distribution of Candida albicans genotypes among family members

    NASA Technical Reports Server (NTRS)

    Mehta, S. K.; Stevens, D. A.; Mishra, S. K.; Feroze, F.; Pierson, D. L.

    1999-01-01

    Thirty-three families (71 subjects) were screened for the presence of Candida albicans in mouthwash or stool specimens; 12 families (28 subjects) were culture-positive for this yeast. An enrichment procedure provided a twofold increase in the recovery of C. albicans from mouthwash specimens. Nine of the twelve culture-positive families had two positive members each, two families had three positive members each, and one family had four positive members. Genetic profiles were obtained by three methods: pulsed-field gel electrophoresis; restriction endonuclease analysis, and random amplification of polymorphic DNA analysis. DNA fingerprinting of C. albicans isolated from one body site three consecutive times revealed that each of the 12 families carried a distinct genotype. No two families shared the same strain, and two or more members of a family commonly shared the same strain. Intrafamily genotypic identity (i.e., each member within the family harbored the same strain) was demonstrated in six families. Genotypes of isolates from husband and wife differed from one another in five families. All three methods were satisfactory in determining genotypes; however, we concluded that restriction endonuclease analysis provided adequate resolving power.

  11. Patient-centered family meetings in palliative care: a quality improvement project to explore a new model of family meetings with patients and families at the end of life.

    PubMed

    Sanderson, Christine R; Cahill, Philippa J; Phillips, Jane L; Johnson, Anne; Lobb, Elizabeth A

    2017-12-01

    Family meetings in palliative care can enhance communication with family members and identify unmet needs. However, the patient's voice may not be heard. This pre and post-test quality improvement project was conducted from 2013-2014 and investigated a patient-centered family meeting, which is a different approach to palliative care family meetings, to determine its feasibility and acceptability for patients, family and the palliative care team. Newly admitted patients to an Australian in-patient specialist palliative care unit were invited to ask anyone they wished to join them in a meeting with the palliative care team and to identify issues they wished to discuss. Consenting inpatients were interviewed shortly after admission; participated in a family meeting and re-interviewed 2-3 days after the meeting. Family members provided feedback at the end of the meeting. A focus group was held with staff for feedback on this new approach for family meetings. Meetings were observed, documented and thematically analyzed. Thirty-one newly admitted patients were approached to participate in a family meeting. Eighty-four percent had family meetings and the majority (96%) was attended by the patient. Thematic analysis revealed 69% of patient-centered meetings raised end-of-life concerns and 54% were "family-focused". Patient-centered family meetings in palliative care were shown to be feasible and acceptable for staff, patients and family members. Many patients and families spontaneously shared end-of-life concerns. A patient-centered approach to family meetings that includes active patient involvement may provide additional and valued opportunities for patients and families to: express mutual concerns, deliver messages of comfort and appreciation, and prepare for death. Further investigation of this approach, including families' bereavement outcomes, is warranted.

  12. “Seeing the Life”: Redefining self-worth and family roles among Iraqi refugee families resettled in the United States

    PubMed Central

    Nelson, Matthew; Hess, Julia Meredith; Isakson, Brian; Goodkind, Jessica

    2017-01-01

    Social and geographic displacement is a global phenomenon that precipitates novel stressors and disruptions that intersect with longstanding familial and social roles. Among the displaced are war-torn Iraqi refugee families, who must address these new obstacles in unconventional ways. This study explores how such disruptions have influenced associations between gender and apparent self-worth experienced by Iraqi refugee families upon relocation to the United States. Further, the psychosocial mechanisms requisite of any novel approach to a new social construct are explored and reveal that production in the family is at the core of instability and shifting power dynamics during resettlement, preventing family members from “seeing the life” in the United States that they had envisioned prior to immigration. Over 200 semi-structured qualitative interviews with Iraqi participants and mental health providers were conducted over the course of the study, and demonstrate a plasticity among social roles in the family and community that transcends the notion of a simple role reversal, and illustrate the complex positionalities that families under stress must approximate during such physical and social displacement. PMID:28966556

  13. Biodiversity of Vibrios

    PubMed Central

    Thompson, Fabiano L.; Iida, Tetsuya; Swings, Jean

    2004-01-01

    Vibrios are ubiquitous and abundant in the aquatic environment. A high abundance of vibrios is also detected in tissues and/or organs of various marine algae and animals, e.g., abalones, bivalves, corals, fish, shrimp, sponges, squid, and zooplankton. Vibrios harbour a wealth of diverse genomes as revealed by different genomic techniques including amplified fragment length polymorphism, multilocus sequence typing, repetetive extragenic palindrome PCR, ribotyping, and whole-genome sequencing. The 74 species of this group are distributed among four different families, i.e., Enterovibrionaceae, Photobacteriaceae, Salinivibrionaceae, and Vibrionaceae. Two new genera, i.e., Enterovibrio norvegicus and Grimontia hollisae, and 20 novel species, i.e., Enterovibrio coralii, Photobacterium eurosenbergii, V. brasiliensis, V. chagasii, V. coralliillyticus, V. crassostreae, V. fortis, V. gallicus, V. hepatarius, V. hispanicus, V. kanaloaei, V. neonatus, V. neptunius, V. pomeroyi, V. pacinii, V. rotiferianus, V. superstes, V. tasmaniensis, V. ezurae, and V. xuii, have been described in the last few years. Comparative genome analyses have already revealed a variety of genomic events, including mutations, chromosomal rearrangements, loss of genes by decay or deletion, and gene acquisitions through duplication or horizontal transfer (e.g., in the acquisition of bacteriophages, pathogenicity islands, and super-integrons), that are probably important driving forces in the evolution and speciation of vibrios. Whole-genome sequencing and comparative genomics through the application of, e.g., microarrays will facilitate the investigation of the gene repertoire at the species level. Based on such new genomic information, the taxonomy and the species concept for vibrios will be reviewed in the next years. PMID:15353563

  14. Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder.

    PubMed

    Nemirovsky, Sergio I; Córdoba, Marta; Zaiat, Jonathan J; Completa, Sabrina P; Vega, Patricia A; González-Morón, Dolores; Medina, Nancy M; Fabbro, Mónica; Romero, Soledad; Brun, Bianca; Revale, Santiago; Ogara, María Florencia; Pecci, Adali; Marti, Marcelo; Vazquez, Martin; Turjanski, Adrián; Kauffman, Marcelo A

    2015-01-01

    Clinical genomics promise to be especially suitable for the study of etiologically heterogeneous conditions such as Autism Spectrum Disorder (ASD). Here we present three siblings with ASD where we evaluated the usefulness of Whole Genome Sequencing (WGS) for the diagnostic approach to ASD. We identified a family segregating ASD in three siblings with an unidentified cause. We performed WGS in the three probands and used a state-of-the-art comprehensive bioinformatic analysis pipeline and prioritized the identified variants located in genes likely to be related to ASD. We validated the finding by Sanger sequencing in the probands and their parents. Three male siblings presented a syndrome characterized by severe intellectual disability, absence of language, autism spectrum symptoms and epilepsy with negative family history for mental retardation, language disorders, ASD or other psychiatric disorders. We found germline mosaicism for a heterozygous deletion of a cytosine in the exon 21 of the SHANK3 gene, resulting in a missense sequence of 5 codons followed by a premature stop codon (NM_033517:c.3259_3259delC, p.Ser1088Profs*6). We reported an infrequent form of familial ASD where WGS proved useful in the clinic. We identified a mutation in SHANK3 that underscores its relevance in Autism Spectrum Disorder.

  15. Methadone Maintenance: The Addict's Family Recreated.

    ERIC Educational Resources Information Center

    Schwartzman, John; Bokos, Peter

    1979-01-01

    A study of four methadone clinics, the addicts treated at these clinics, and their families, reveals basic dissonances in treatment ideology and professional-paraprofessional relationships which, combined with the addict's particular mode of functioning, make significant change in his behavior improbable. (Author)

  16. Study of a large Anglo-Saxon family with beta-thalassaemia trait.

    PubMed

    Raik, E; Powell, E; Gordon, S

    1976-01-01

    Study of a large Anglo-Saxon family with beta-thalassaemia trait revealed evidence of consanguinity, moreover both branches of the family shared a Spanish ancestor. The manifestations of the disorder were varied in severity and yet the degree of severity appeared to breed true within any individual part of the family. Our explanation for the inheritance pattern observed in the family was to postulate the existence of two non-allelic genes influencing the rate of beta-chain synthesis.

  17. When Academics Become Parents: An Overview of Family Leave Policies at Canadian Universities.

    ERIC Educational Resources Information Center

    Prentice, Susan; Pankratz, Curtis J.

    2003-01-01

    Reviews family leave policies in Canadian universities through March 2002. Analysis of pregnancy, adoption, and partner (paternity) leave policies reveal that most Canadian university policies produce income loss and disruption and are characterized by gender regulation and familialism. The paper proposes that improving faculty family leave…

  18. Negotiating Family-Centered Early Education: A Multi-Dimensional Assessment of Interests and Needs.

    ERIC Educational Resources Information Center

    Burton-Maxwell, Christine; Gullo, Dominic F.

    1995-01-01

    Examined the priorities in early childhood education program development from the perspectives of school staff and families. The results revealed important differences between the staff and family perspectives and indicated a need for greater staff training in the processes of delivering relationship-based, consumer-driven family services, and in…

  19. Work Family Relations: Antecedents and Outcomes

    ERIC Educational Resources Information Center

    Cinamon, Rachel Gali; Rich, Yisrael

    2010-01-01

    This study investigated interrelations between conflict and facilitation in work and family domains, with spousal, managerial, and collegial social support serving as antecedents, and professional vigor and burnout as outcomes. Participants were 322 female, married teachers. Regression analyses revealed complex relations between conflict and…

  20. A comparative genome analysis of PME and PMEI families reveals the evolution of pectin metabolism in plant cell walls.

    PubMed

    Wang, Maojun; Yuan, Daojun; Gao, Wenhui; Li, Yang; Tan, Jiafu; Zhang, Xianlong

    2013-01-01

    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, the gene structure and sequence analyses show that the origin of the PMEI domain may be derived from the neofunctionalization of the pro domain after WGD. This study will advance the evolutionary understanding of the PME and PMEI families and plant cell wall development.

  1. Systematic chromosome examination of two families with schizophrenia and two families with manic depressive illness

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Friedrich, U.; Mors, O.; Ewald, H.

    1996-02-16

    Systematic and detailed chromosome analysis, combined with a semistructured interview, was performed in 2 families with schizophrenia and in 2 families with manic depressive illness. Prometaphase technique did not reveal any subtle structural chromosome abnormalities. However, in standard techniques, gain and loss of sex chromosomes were observed. This occurred in patients at a younger age than in unaffected persons. This gives rise to the suspicion that sex chromosome aneuploidy may somehow be related to the development of psychosis. But since the data set is small, especially with respect to schizophrenia, further studies are needed to elucidate this observation. In onemore » family, cosegregation of the disease locus with a marker on chromosome 21 was seen. Therefore, further research should determine if chromosome 21 contains a gene for manic depressive illness. 10 refs., 3 figs., 2 tabs.« less

  2. Exome sequencing of a colorectal cancer family reveals shared mutation pattern and predisposition circuitry along tumor pathways.

    PubMed

    Suleiman, Suleiman H; Koko, Mahmoud E; Nasir, Wafaa H; Elfateh, Ommnyiah; Elgizouli, Ubai K; Abdallah, Mohammed O E; Alfarouk, Khalid O; Hussain, Ayman; Faisal, Shima; Ibrahim, Fathelrahamn M A; Romano, Maurizio; Sultan, Ali; Banks, Lawrence; Newport, Melanie; Baralle, Francesco; Elhassan, Ahmed M; Mohamed, Hiba S; Ibrahim, Muntaser E

    2015-01-01

    The molecular basis of cancer and cancer multiple phenotypes are not yet fully understood. Next Generation Sequencing promises new insight into the role of genetic interactions in shaping the complexity of cancer. Aiming to outline the differences in mutation patterns between familial colorectal cancer cases and controls we analyzed whole exomes of cancer tissues and control samples from an extended colorectal cancer pedigree, providing one of the first data sets of exome sequencing of cancer in an African population against a background of large effective size typically with excess of variants. Tumors showed hMSH2 loss of function SNV consistent with Lynch syndrome. Sets of genes harboring insertions-deletions in tumor tissues revealed, however, significant GO enrichment, a feature that was not seen in control samples, suggesting that ordered insertions-deletions are central to tumorigenesis in this type of cancer. Network analysis identified multiple hub genes of centrality. ELAVL1/HuR showed remarkable centrality, interacting specially with genes harboring non-synonymous SNVs thus reinforcing the proposition of targeted mutagenesis in cancer pathways. A likely explanation to such mutation pattern is DNA/RNA editing, suggested here by nucleotide transition-to-transversion ratio that significantly departed from expected values (p-value 5e-6). NFKB1 also showed significant centrality along with ELAVL1, raising the suspicion of viral etiology given the known interaction between oncogenic viruses and these proteins.

  3. [Comparison among families of Mutong].

    PubMed

    Ma, Hong-mei; Zhang, Bo-li

    2002-06-01

    To distinguish families of Mutong correctly and direct effective and safe clinical administration. Comparison among families of Mutong on Herbs, Taxology, Clinic, Pharmacology and Toxicology. 1. There are mainly three families of Mutong: Lardizabalaceae, Ranunculaceae, Aristolochiaceae, which were all included in China Pharmacopeia in 1963. However only Mutong of Ranunculaceae and Aristolochiaceae family have been included in China Pharmacopeia since 1977, but Mutong of Lardizabalaceae family has not been included in China Pharmacopeia ever since. 2. It was Mutong of Lardizabalaceae family that was used mainly through the ages without toxic records, and Mutong of Aristolochiaceae e.g. Caulis Aristolochia manshuriensis (CAM) was not put down in writing of past ages but is mainly used today with toxicity repeatedly. 3. CAM contain aristolochic acid and aristololactam with high toxicity, which plays an uncertain role in diuresis with poor bactericidal power. Mutong of Lardizabalaceae family e.g. Akebia trifoliata (Thunb.) Koidz. var. australis (Diels) Rehd (ATKV) don't contain aristolochic acid and aristololactam, which has low toxicity and plays a certain role in diuresis with high bactericidal power. It may be quite safe to use ATKV instead of CAM in clinics. So we suggest that ATKV should be reused as first Mutong in China Pharmacopeia revised edition in order to ensure a correct understanding of the facts and reveal Mutong in its true colors, and CAM should be used as second Mutong strictly according to the rules in China Pharmacopeia revised edition.

  4. Familial aggregation analysis of gene expressions

    PubMed Central

    Rao, Shao-Qi; Xu, Liang-De; Zhang, Guang-Mei; Li, Xia; Li, Lin; Shen, Gong-Qing; Jiang, Yang; Yang, Yue-Ying; Gong, Bin-Sheng; Jiang, Wei; Zhang, Fan; Xiao, Yun; Wang, Qing K

    2007-01-01

    Traditional studies of familial aggregation are aimed at defining the genetic (and non-genetic) causes of a disease from physiological or clinical traits. However, there has been little attempt to use genome-wide gene expressions, the direct phenotypic measures of genes, as the traits to investigate several extended issues regarding the distributions of familially aggregated genes on chromosomes or in functions. In this study we conducted a genome-wide familial aggregation analysis by using the in vitro cell gene expressions of 3300 human autosome genes (Problem 1 data provided to Genetic Analysis Workshop 15) in order to answer three basic genetics questions. First, we investigated how gene expressions aggregate among different types (degrees) of relative pairs. Second, we conducted a bioinformatics analysis of highly familially aggregated genes to see how they are distributed on chromosomes. Third, we performed a gene ontology enrichment test of familially aggregated genes to find evidence to support their functional consensus. The results indicated that 1) gene expressions did aggregate in families, especially between sibs. Of 3300 human genes analyzed, there were a total of 1105 genes with one or more significant (empirical p < 0.05) familial correlation; 2) there were several genomic hot spots where highly familially aggregated genes (e.g., the chromosome 6 HLA genes cluster) were clustered; 3) as we expected, gene ontology enrichment tests revealed that the 1105 genes were aggregating not only in families but also in functional categories. PMID:18466548

  5. Family Profiles of Cohesion and Parenting Practices and Latino Youth Adjustment.

    PubMed

    Bámaca-Colbert, Mayra Y; Gonzales-Backen, Melinda; Henry, Carolyn S; Kim, Peter S Y; Roblyer, Martha Zapata; Plunkett, Scott W; Sands, Tovah

    2017-08-10

    Using a sample of 279 (52% female) Latino youth in 9th grade (M = 14.57, SD = .56), we examined profiles of family cohesion and parenting practices and their relation to youth adjustment. The results of latent profile analyses revealed four family profiles: Engaged, Supportive, Intrusive, and Disengaged. Latino youth in the Supportive family profile showed most positive adjustment (highest self-esteem and lowest depressive symptoms), followed by youth in the Engaged family profile. Youth in the Intrusive and Disengaged profiles showed the lowest levels of positive adjustment. The findings contribute to the current literature on family dynamics, family profiles, and youth psychological adjustment within specific ethnic groups. © 2017 Family Process Institute.

  6. Whole Genome Sequencing Reveals a De Novo SHANK3 Mutation in Familial Autism Spectrum Disorder

    PubMed Central

    Nemirovsky, Sergio I.; Córdoba, Marta; Zaiat, Jonathan J.; Completa, Sabrina P.; Vega, Patricia A.; González-Morón, Dolores; Medina, Nancy M.; Fabbro, Mónica; Romero, Soledad; Brun, Bianca; Revale, Santiago; Ogara, María Florencia; Pecci, Adali; Marti, Marcelo; Vazquez, Martin; Turjanski, Adrián; Kauffman, Marcelo A.

    2015-01-01

    Introduction Clinical genomics promise to be especially suitable for the study of etiologically heterogeneous conditions such as Autism Spectrum Disorder (ASD). Here we present three siblings with ASD where we evaluated the usefulness of Whole Genome Sequencing (WGS) for the diagnostic approach to ASD. Methods We identified a family segregating ASD in three siblings with an unidentified cause. We performed WGS in the three probands and used a state-of-the-art comprehensive bioinformatic analysis pipeline and prioritized the identified variants located in genes likely to be related to ASD. We validated the finding by Sanger sequencing in the probands and their parents. Results Three male siblings presented a syndrome characterized by severe intellectual disability, absence of language, autism spectrum symptoms and epilepsy with negative family history for mental retardation, language disorders, ASD or other psychiatric disorders. We found germline mosaicism for a heterozygous deletion of a cytosine in the exon 21 of the SHANK3 gene, resulting in a missense sequence of 5 codons followed by a premature stop codon (NM_033517:c.3259_3259delC, p.Ser1088Profs*6). Conclusions We reported an infrequent form of familial ASD where WGS proved useful in the clinic. We identified a mutation in SHANK3 that underscores its relevance in Autism Spectrum Disorder. PMID:25646853

  7. Evolution, functional differentiation, and co-expression of the RLK gene family revealed in Jilin ginseng, Panax ginseng C.A. Meyer.

    PubMed

    Lin, Yanping; Wang, Kangyu; Li, Xiangyu; Sun, Chunyu; Yin, Rui; Wang, Yanfang; Wang, Yi; Zhang, Meiping

    2018-02-21

    Most genes in a genome exist in the form of a gene family; therefore, it is necessary to have knowledge of how a gene family functions to comprehensively understand organismal biology. The receptor-like kinase (RLK)-encoding gene family is one of the most important gene families in plants. It plays important roles in biotic and abiotic stress tolerances, and growth and development. However, little is known about the functional differentiation and relationships among the gene members within a gene family in plants. This study has isolated 563 RLK genes (designated as PgRLK genes) expressed in Jilin ginseng (Panax ginseng C.A. Meyer), investigated their evolution, and deciphered their functional diversification and relationships. The PgRLK gene family is highly diverged and formed into eight types. The LRR type is the earliest and most prevalent, while only the Lec type originated after P. ginseng evolved. Furthermore, although the members of the PgRLK gene family all encode receptor-like protein kinases and share conservative domains, they are functionally very diverse, participating in numerous biological processes. The expressions of different members of the PgRLK gene family are extremely variable within a tissue, at a developmental stage and in the same cultivar, but most of the genes tend to express correlatively, forming a co-expression network. These results not only provide a deeper and comprehensive understanding of the evolution, functional differentiation and correlation of a gene family in plants, but also an RLK genic resource useful for enhanced ginseng genetic improvement.

  8. The Impact of Family Life Events and Changes on the Health of a Chronically Ill Child.

    ERIC Educational Resources Information Center

    Patterson, Joan M.; McCubbin, Hamilton I.

    1983-01-01

    Examined the relationship between family stress and changes in health of a child with cystic fibrosis. Data from parents (N=100) and clinic records revealed that a decline in pulmonary functioning was associated with family life changes, especially in family development and relationships, family management and decisions, and family finances.…

  9. Hegemony in the Roma family.

    PubMed

    Mrhálek, Tomáš; Lidová, Lenka; Kajanová, Alena

    2015-01-01

    This article is intended to describe the current hegemonic masculinity within the Roma family structure in the Czech Republic, with regard to changes related to developments in the majority society and the current socioeconomic situation of the Roma. The theoretical context of this article is based on the paradigm of masculine hegemony as it exists and has existed in the Roma families. Data for the study came from semi-structured interviews with 30 Roma females and 30 Roma males living as couples, in three Czech cities. The main finding reveals a dichotomy between the traditional roles of Roma women, i.e. care for the family and the household, and the present functions, i.e. contributing to the family income through social benefits. We observed a decline in the traditional role of Roma men, who were often unemployed. We related the change in the roles of men to the "non-functionality of the men", contributing to the emerging potential for emancipation of Roma women. However, the traditional patriarchal Roma family is structured such that men are given the main decision making powers, which has slowed changes in marginalized Roma families. Additionally, social pressures against women as well as socially conditioned pressures that act to preserve hegemonic masculinity, have largely prevented the realization of the potential for emancipation of Roma women, or if a woman tries to leave her non-functioning husband.

  10. GSDM family genes meet autophagy.

    PubMed

    Tamura, Masaru; Shiroishi, Toshihiko

    2015-07-15

    In the previous issue of Biochemical Journal, Shi et al. [(2015) 468, 325-336] report that Gasdermin (Gsdm) family proteins regulate autophagy activity, which is counter-balanced by the opposite functions of well-conserved N- and C-terminal domains of the proteins. The Gsdm family was originally identified as the causative gene of dominant skin mutations exhibiting alopecia. Each member of the Gsdm gene family shows characteristic expression patterns in the epithelium, which is tissue and differentiation stage-specific. Previous phenotype analyses of mutant mice, biochemical analyses of proteins and genome-wide association studies showed that the Gsdm gene family might be involved in epithelial cell development, apoptosis, inflammation, carcinogenesis and immune-related diseases. To date, however, their molecular function(s) remain unclear. Shi et al. found that mutations in the C-terminal domain of Gsdma3, a member of the Gsdm family, induce autophagy. Further studies revealed that the wild-type N-terminal domain has pro-autophagic activity and that the C-terminal domain conversely inhibits this N-terminal function. These opposite functions of the two domains were also observed in other Gsdm family members. Thus, their study provides a new insight into the function of Gsdm genes in epithelial cell lineage, causality of cancers and immune-related diseases including childhood-onset asthma. © 2015 Authors; published by Portland Press Limited.

  11. First report on an X-linked hypohidrotic ectodermal dysplasia family with X chromosome inversion: Breakpoint mapping reveals the pathogenic mechanism and preimplantation genetics diagnosis achieves an unaffected birth.

    PubMed

    Wu, Tonghua; Yin, Biao; Zhu, Yuanchang; Li, Guangui; Ye, Lijun; Liang, Desheng; Zeng, Yong

    2017-12-01

    To investigate the etiology of X-linked hypohidrotic ectodermal dysplasia (XLHED) in a family with an inversion of the X chromosome [inv(X)(p21q13)] and to achieve a healthy birth following preimplantation genetic diagnosis (PGD). Next generation sequencing (NGS) and Sanger sequencing analysis were carried out to define the inversion breakpoint. Multiple displacement amplification, amplification of breakpoint junction fragments, Sanger sequencing of exon 1 of ED1, haplotyping of informative short tandem repeat markers and gender determination were performed for PGD. NGS data of the proband sample revealed that the size of the possible inverted fragment was over 42Mb, spanning from position 26, 814, 206 to position 69, 231, 915 on the X chromosome. The breakpoints were confirmed by Sanger sequencing. A total of 5 blastocyst embryos underwent trophectoderm biopsy. Two embryos were diagnosed as carriers and three were unaffected. Two unaffected blastocysts were transferred and a singleton pregnancy was achieved. Following confirmation by prenatal diagnosis, a healthy baby was delivered. This is the first report of an XLHED family with inv(X). ED1 is disrupted by the X chromosome inversion in this XLHED family and embryos with the X chromosomal abnormality can be accurately identified by means of PGD. Copyright © 2017. Published by Elsevier B.V.

  12. Positive Coping Strategies among Immigrant Cambodian Families: An Ethnographic Case Study.

    ERIC Educational Resources Information Center

    Reiboldt, Wendy; Goldstein, Avery E.

    2000-01-01

    Interviews with two Cambodian immigrant families over 2 years revealed how they relied on each other more than formal service providers to cope with difficulties. They focused on children's education and safety, insulation of the family from external influences, and interdependence with the immigrant community. (SK)

  13. Racial Differences in Exposure and Reactivity to Daily Family Stressors

    PubMed Central

    Cichy, Kelly E.; Stawski, Robert S.; Almeida, David M.

    2013-01-01

    Using data from the National Study of Daily Experiences (NSDE), this study examined racial differences in exposure and reactivity to daily stressors involving family members. Respondents included African American and European American adults aged 34 to 84 (N = 1,931) who participated in 8 days of daily interviews where they reported on daily stressors, affect, and physical health symptoms. Results revealed racial similarities in family stressor exposure. Both races were also emotionally reactive to family arguments and family network events (i.e., events that happen to a family member), whereas African Americans were more physically reactive to family arguments. For African Americans, reactivity to family arguments endured; the increased negative affect and physical symptoms associated with family arguments lasted into the next day. Findings provide evidence for racial similarities and differences, suggesting that family relationships are universally stressful, whereas the negative effects of family stressors are more enduring among African Americans. PMID:23543937

  14. The Multivariate Roles of Family Instability and Interparental Conflict in Predicting Children's Representations of Insecurity in the Family System and Early School Adjustment Problems.

    PubMed

    Coe, Jesse L; Davies, Patrick T; Sturge-Apple, Melissa L

    2017-02-01

    This study examined the moderating role of family instability in relations involving destructive interparental conflict, children's internal representations of insecurity in the family system, and their early school maladjustment. Two hundred forty-three preschool children (M age = 4.60 years; 56 % girls) and their families participated in this multi-method (i.e., observations, structured interview, surveys) multi-informant (i.e., observer, parent, teacher), longitudinal study. Findings indicated that the mediational role of children's insecure family representations in the pathway between destructive interparental conflict and children's adjustment problems varied significantly depending on the level of family instability. Interparental conflict was specifically associated with insecure family representations only under conditions of low family instability. In supporting the role of family instability as a vulnerable-stable risk factor, follow up analyses revealed that children's concerns about security in the family were uniformly high under conditions of heightened instability regardless of their level of exposure to interparental conflict.

  15. Results Not Typical: One Latino Family's Experiences in Higher Education

    ERIC Educational Resources Information Center

    Jimenez-Silva, Margarita; Jimenez Hernandez, Norma V.; Luevanos, Ruth; Jimenez, Dulcemonica; Jimenez, Abel, Jr.

    2009-01-01

    In this narrative, five adult siblings bring their voices together to tell the stories of their interwoven college experiences--how they influenced, supported, and relied on one another and other family members. As the stories unfold, they reveal the strengths of the familial ties that provide meaning and purpose to the college experience, the…

  16. Family and school spillover in adolescents' daily lives.

    PubMed

    Flook, Lisa; Fuligni, Andrew J

    2008-01-01

    This study examined spillover between daily family stressors and school problems among 589 ninth-grade students (mean age = 14.9 years) from Mexican, Chinese, and European backgrounds. Spillover was examined using a daily diary methodology in which adolescents reported on their school and family experiences each day for 2 weeks. Analyses using hierarchical linear modeling revealed reciprocal spillover effects between adolescents' daily functioning in the family and school domains that spanned several days. Longitudinal analyses indicated that spillover between family stressors and school problems also occurs across the high school years, from 9th to 12th grade, and that both are predictive of poorer academic performance in 12th grade. These findings have practical implications for adolescents' academic achievement trajectories and general well-being.

  17. The balance of intergenerational family transfers: a life-cycle perspective.

    PubMed

    Mudrazija, Stipica

    2014-09-01

    The aim of this study is to determine the likelihood and net amount of parent-child transfers over the adult life cycle across European welfare regimes. The study introduces an economic life-cycle model of family transfers to describe the evolution of family exchanges across generations over time, which reveals a nonlinear relationship of age and net family transfers. Furthermore, it refines the method of estimating parent-child net transfers. Data come from the Survey of Health, Ageing, and Retirement in Europe, and include 36,095 parent-child dyads from 11 European countries representing social democratic, conservative, and traditional welfare-state regimes. The findings reveal net value of family intergenerational support follows a nonlinear pattern across the adult life cycle, with positive transfers from parents to adult children decreasing modestly until advanced old age when the decrease intensifies. Net family support benefits individuals and generations with larger relative need. The transition in the net family support pattern starts later and is less pronounced across social democratic welfare-regime countries while the opposite is true in traditional welfare-regime countries. These findings might be interpreted as being linked to differences in the public policies guaranteeing different levels of provision for dependent populations across different welfare regimes. They are consistent with a comparatively smaller role of family support in the intergenerational redistribution of resources in societies with larger public intergenerational support to dependent populations.

  18. Comparative genomic analysis of SET domain family reveals the origin, expansion, and putative function of the arthropod-specific SmydA genes as histone modifiers in insects.

    PubMed

    Jiang, Feng; Liu, Qing; Wang, Yanli; Zhang, Jie; Wang, Huimin; Song, Tianqi; Yang, Meiling; Wang, Xianhui; Kang, Le

    2017-06-01

    The SET domain is an evolutionarily conserved motif present in histone lysine methyltransferases, which are important in the regulation of chromatin and gene expression in animals. In this study, we searched for SET domain-containing genes (SET genes) in all of the 147 arthropod genomes sequenced at the time of carrying out this experiment to understand the evolutionary history by which SET domains have evolved in insects. Phylogenetic and ancestral state reconstruction analysis revealed an arthropod-specific SET gene family, named SmydA, that is ancestral to arthropod animals and specifically diversified during insect evolution. Considering that pseudogenization is the most probable fate of the new emerging gene copies, we provided experimental and evolutionary evidence to demonstrate their essential functions. Fluorescence in situ hybridization analysis and in vitro methyltransferase activity assays showed that the SmydA-2 gene was transcriptionally active and retained the original histone methylation activity. Expression knockdown by RNA interference significantly increased mortality, implying that the SmydA genes may be essential for insect survival. We further showed predominantly strong purifying selection on the SmydA gene family and a potential association between the regulation of gene expression and insect phenotypic plasticity by transcriptome analysis. Overall, these data suggest that the SmydA gene family retains essential functions that may possibly define novel regulatory pathways in insects. This work provides insights into the roles of lineage-specific domain duplication in insect evolution. © The Authors 2017. Published by Oxford University Press.

  19. Comparative genomic analysis of SET domain family reveals the origin, expansion, and putative function of the arthropod-specific SmydA genes as histone modifiers in insects

    PubMed Central

    Jiang, Feng; Liu, Qing; Wang, Yanli; Zhang, Jie; Wang, Huimin; Song, Tianqi; Yang, Meiling

    2017-01-01

    Abstract The SET domain is an evolutionarily conserved motif present in histone lysine methyltransferases, which are important in the regulation of chromatin and gene expression in animals. In this study, we searched for SET domain–containing genes (SET genes) in all of the 147 arthropod genomes sequenced at the time of carrying out this experiment to understand the evolutionary history by which SET domains have evolved in insects. Phylogenetic and ancestral state reconstruction analysis revealed an arthropod-specific SET gene family, named SmydA, that is ancestral to arthropod animals and specifically diversified during insect evolution. Considering that pseudogenization is the most probable fate of the new emerging gene copies, we provided experimental and evolutionary evidence to demonstrate their essential functions. Fluorescence in situ hybridization analysis and in vitro methyltransferase activity assays showed that the SmydA-2 gene was transcriptionally active and retained the original histone methylation activity. Expression knockdown by RNA interference significantly increased mortality, implying that the SmydA genes may be essential for insect survival. We further showed predominantly strong purifying selection on the SmydA gene family and a potential association between the regulation of gene expression and insect phenotypic plasticity by transcriptome analysis. Overall, these data suggest that the SmydA gene family retains essential functions that may possibly define novel regulatory pathways in insects. This work provides insights into the roles of lineage-specific domain duplication in insect evolution. PMID:28444351

  20. Familial Recurrence of 3MC Syndrome in Consanguineous Families: A Clinical and Molecular Diagnostic Approach With Review of the Literature.

    PubMed

    Gardner, Olivia K; Haynes, Karla; Schweitzer, Daniela; Johns, Alexis; Magee, William P; Urata, Mark M; Sanchez-Lara, Pedro A

    2017-11-01

    We report four individuals from two unrelated consanguineous families with 3MC syndrome. In the first family, chromosome microarray data revealed that the two affected sisters, born to first-cousin parents, shared a unique homozygous C-terminal deletion in the COLEC11 gene. Two affected brothers from a second family, also born to first-cousin parents, shared a region of homozygosity that included the second gene known to cause the 3MC syndrome, MASP1. We discuss the diagnostic approach of craniofacial disorders born to consanguineous parents and highlight a literature search and reference a helpful dysmorphology solution powered by FDNA (Facial Dysmorphology Novel Analysis) technology.

  1. Familial aggregation of VO(2max) response to exercise training: results from the HERITAGE Family Study.

    PubMed

    Bouchard, C; An, P; Rice, T; Skinner, J S; Wilmore, J H; Gagnon, J; Pérusse, L; Leon, A S; Rao, D C

    1999-09-01

    The aim of this study was to test the hypothesis that individual differences in the response of maximal O(2) uptake (VO(2max)) to a standardized training program are characterized by familial aggregation. A total of 481 sedentary adult Caucasians from 98 two-generation families was exercise trained for 20 wk and was tested for VO(2max) on a cycle ergometer twice before and twice after the training program. The mean increase in VO(2max) reached approximately 400 ml/min, but there was considerable heterogeneity in responsiveness, with some individuals experiencing little or no gain, whereas others gained >1.0 l/min. An ANOVA revealed that there was 2.5 times more variance between families than within families in the VO(2max) response variance. With the use of a model-fitting procedure, the most parsimonious models yielded a maximal heritability estimate of 47% for the VO(2max) response, which was adjusted for age and sex with a maternal transmission of 28% in one of the models. We conclude that the trainability of VO(2max) is highly familial and includes a significant genetic component.

  2. Developing health-promoting practice with families: one pedagogical experience.

    PubMed

    Hartrick, G

    2000-01-01

    As the significance of social determinants of health has been revealed and the socio-environmental perspective of health promotion has become prominent, family nurses have attempted to move away from disease-treatment models of practice towards emancipatory, health promoting practice. This paper describes a multidisciplinary team's pedagogical experience of developing emancipatory family health promoting practices. The discussion includes a description of the significant educational processes that supported the development of health promoting family practice and an outline of the transformative changes the team members experienced as they evolved their health promoting practices.

  3. Meeting the family: promoting humanism in gross anatomy.

    PubMed

    Crow, Sheila M; O'Donoghue, Dan; Vannatta, Jerry B; Thompson, Britta M

    2012-01-01

    Human dissection commonly occurs early in the undergraduate medical school curriculum, thus presenting an immediate opportunity for educators to teach and encourage humanistic qualities of respect, empathy, and compassion. The purpose of this study was to measure the impact of the Donor Luncheon, a unique program in which medical students meet the families of the anatomical donor prior to dissection in the anatomy course at the University of Oklahoma College of Medicine. Students were randomized into groups of 8 to attend the luncheon and either met with family of the donor or attended the luncheon with no donor family present. A questionnaire measured students' attitudes at 2 weeks, 6 weeks, and at the conclusion of the anatomy course. Factor analysis revealed 5 scales. Analysis revealed statistically significant differences across time for Donor as Person, Dissection Process, and Donor as Patient and statistically significant differences between groups for Donor as Person and Donor as Patient. These results suggest that this program can provide students with the opportunity to maintain more humanistic attitudes at the beginning of their medical education career.

  4. Family history is under-estimated in children with isolated hypospadias: a French multicenter report of 88 families.

    PubMed

    Ollivier, Margot; Paris, Francoise; Philibert, Pascal; Garnier, Sarah; Coffy, Amandine; Fauconnet-Servant, Nadège; Haddad, Mirna; Guys, Jean Michel; Reynaud, Rachel; Faure, Alice; Merrot, Thierry; Wagner, Kathy; Bréaud, Jean; Valla, Jean Stéphane; Dobremez, Eric; Gaspari, Laura; Daures, Jean-Pierre; Sultan, Charles; Kalfa, Nicolas

    2018-04-30

    Whereas familial forms of complex disorders/differences of sex development have been widely reported, data regarding isolated hypospadias are sparse and a family history is thought to be less frequent. We aimed 1-to determine the frequency of hypospadias in families of hypospadiac boys 2-to determine if theses familial forms exhibit a particular phenotype 3-to evaluate the prevalence of genetic defects of the main candidate genes. A prospective inclusion of 395 hypospadiac boys screened for family history with a standardized questionnaire, extensive clinical description, family tree and sequencing of AR, SF1, SRD5A2 and MAMLD1 was performed. Family history of hypospadias was more frequent than expected (22.3%, n=88). In 19.3% of cases, the familial cases were multiple (n=17). Familial hypospadias were related to the paternal side in 59.1% of cases including the father himself (30.7%), paternal uncles and cousins. Prematurity, assisted-reproductive techniques, other congenital abnormalities and growth retardation were not more frequent in familial hypospadias than in sporadic cases. The severity of phenotype was similar in both groups. The results of the genetic analysis combined to previous data on AR sequencing showed that familial cases tend to reveal more frequently genetic defects than sporadic cases (5.68% vs 1,63%, p=0,048). Familial forms of hypospadias are far more frequent than previously reported. Even minor and isolated hypospadias justify a full clinical investigation of the family history. Detecting these hereditary forms may help to find out the underlying genetic defects and may improve the follow-up and counseling of these patients. Copyright © 2018 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

  5. Novel variants in PAX6 gene caused congenital aniridia in two Chinese families.

    PubMed

    Zhang, R; Linpeng, S; Wei, X; Li, H; Huang, Y; Guo, J; Wu, Q; Liang, D; Wu, L

    2017-06-01

    PurposeTo reveal the underlying genetic defect in two four-generation Chinese families with aniridia and explore the pathologic mechanism.MethodsFull ophthalmic examinations were performed in two families with aniridia. The PAX6 gene was directly sequenced in patients of two families, and the detected variants were screened in unaffected family members and two hundred unrelated healthy controls. Real-time quantitative PCR was used to explore pathologic mechanisms of the two variants.ResultsAniridia, cataract, and oscillatory nystagmus were observed in patients of the two families. In addition, we observed corneal opacity and microphthalmus in family 1, and strabismus, left ectopia lentis, microphthalmus, and microcornea in family 2. Sanger sequencing detected a novel 1-bp duplication (c.50dupA) in family 1 and a novel 2-bp splice site deletion (c.765+1_765+2delGT) in family 2. Sequencing of cDNA indicated skipping of exon 9 caused by the splice site deletion, being predicted to cause a premature stop codon, as well as the duplication. The PAX6 mRNA significantly lower in patients with aniridia than in unaffected family members in both families, suggesting that the duplication and splice site deletion caused nonsense-mediated mRNA decay.ConclusionsOur study identified two novel PAX6 variants in two families with aniridia and revealed the pathogenicity of the variants; this would expand the variant spectrum of PAX6 and help us better understand the molecular basis of aniridia, thus facilitating genetic counseling.

  6. Perceived versus used workplace flexibility in Singapore: predicting work-family fit.

    PubMed

    Jones, Blake L; Scoville, D Phillip; Hill, E Jeffrey; Childs, Geniel; Leishman, Joan M; Nally, Kathryn S

    2008-10-01

    This study examined the relationship of 2 types of workplace flexibility to work-family fit and work, personal, and marriage-family outcomes using data (N = 1,601) representative of employed persons in Singapore. We hypothesized that perceived and used workplace flexibility would be positively related to the study variables. Results derived from structural equation modeling revealed that perceived flexibility predicted work-family fit; however, used flexibility did not. Work-family fit related positively to each work, personal, and marriage-family outcome; however, workplace flexibility only predicted work and personal outcomes. Findings suggest work-family fit may be an important facilitating factor in the interface between work and family life, relating directly to marital satisfaction and satisfaction in other family relationships. Implications of these findings are discussed. Copyright 2008 APA, all rights reserved.

  7. Characterization of six patients who are double heterozygotes for familial hypercholesterolemia and familial defective apo B-100.

    PubMed

    Rubinsztein, D C; Raal, F J; Seftel, H C; Pilcher, G; Coetzee, G A; van der Westhuyzen, D R

    1993-07-01

    Familial defective apolipoprotein B-100 (FDB) and familial hypercholesterolemia (FH) are the common causes of monogenic primary hypercholesterolemia. An individual of mixed English and Afrikaner descent with both FDB and the FH Afrikaner-1 low-density lipoprotein receptor mutation was identified in our laboratory. Subsequent analysis of her extended family revealed the presence of heterozygotes for either FH Afrikaner-1, FH Afrikaner-2, or FDB as well as five additional double heterozygotes for FH Afrikaner-1 and FDB and one "complex" heterozygote with all three mutations. The hypercholesterolemic and clinical features of the pure FDB subjects were similar to those of the pure FH heterozygotes. The double heterozygotes with both FH and FDB have lipid levels and clinical features that are intermediate in severity between heterozygous and homozygous FH.

  8. Phylogenetic, expression and functional characterizations of the maize NLP transcription factor family reveal a role in nitrate assimilation and signaling.

    PubMed

    Wang, Zhangkui; Zhang, Lei; Sun, Ci; Gu, Riliang; Mi, Guohua; Yuan, Lixing

    2018-01-24

    Although nitrate represents an important nitrogen (N) source for maize, a major crop of dryland areas, the molecular mechanisms of nitrate uptake and assimilation remain poorly understood. Here, we identified nine maize NIN-like protein (ZmNLP) genes and analyzed the function of one member, ZmNLP3.1, in nitrate nutrition and signaling. The NLP family genes were clustered into three clades in a phylogenic tree. Comparative genomic analysis showed that most ZmNLP genes had collinear relationships to the corresponding NLPs in rice, and that the expansion of the ZmNLP family resulted from segmental duplications in the maize genome. Quantitative PCR analysis revealed the expression of ZmNLP2.1, ZmNLP2.2, ZmNLP3.1, ZmNLP3.2, ZmNLP3.3, and ZmNLP3.4 was induced by nitrate in maize roots. The function of ZmNLP3.1 was investigated by overexpressing it in the Arabidopsis nlp7-1 mutant, which is defective in the AtNLP7 gene for nitrate signaling and assimilation. Ectopic expression of ZmNLP3.1 restored the N-deficient phenotypes of nlp7-1 under nitrate-replete conditions in terms of shoot biomass, root morphology and nitrate assimilation. Furthermore, the nitrate induction of NRT2.1, NIA1, and NiR1 gene expression was recovered in the 35S::ZmNLP3.1/nlp7-1 transgenic lines, indicating that ZmNLP3.1 plays essential roles in nitrate signaling. Taken together, these results suggest that ZmNLP3.1 plays an essential role in regulating nitrate signaling and assimilation processes, and represents a valuable candidate for developing transgenic maize cultivars with high N-use efficiency. This article is protected by copyright. All rights reserved.

  9. Parenting approaches, family functionality, and internet addiction among Hong Kong adolescents.

    PubMed

    Wu, Cynthia Sau Ting; Wong, Ho Ting; Yu, Kin Fai; Fok, Ka Wing; Yeung, Sheung Man; Lam, Cheuk Ho; Liu, Ka Man

    2016-08-18

    Internet addiction (IA) among adolescents has become a global health problem, and public awareness of it is increasing. Many IA risk factors relate to parents and the family environment. This study examined the relationship between IA and parenting approaches and family functionality. A cross-sectional study was conducted with 2021 secondary students to identify the prevalence of IA and to explore the association between adolescent IA and familial variables, including parents' marital status, family income, family conflict, family functionality, and parenting approaches. The results revealed that 25.3 % of the adolescent respondents exhibited IA, and logistic regression positively predicted the IA of adolescents from divorced families, low-income families, families in which family conflict existed, and severely dysfunctional families. Interestingly, adolescents with restricted Internet use were almost 1.9 times more likely to have IA than those whose use was not restricted. Internet addiction is common among Chinese adolescents in Hong Kong, and family-based prevention strategies should be aligned with the risk factors of IA.

  10. A major lineage of non-tailed dsDNA viruses as unrecognized killers of marine bacteria

    NASA Astrophysics Data System (ADS)

    Kauffman, Kathryn M.; Hussain, Fatima A.; Yang, Joy; Arevalo, Philip; Brown, Julia M.; Chang, William K.; Vaninsberghe, David; Elsherbini, Joseph; Sharma, Radhey S.; Cutler, Michael B.; Kelly, Libusha; Polz, Martin F.

    2018-02-01

    The most abundant viruses on Earth are thought to be double-stranded DNA (dsDNA) viruses that infect bacteria. However, tailed bacterial dsDNA viruses (Caudovirales), which dominate sequence and culture collections, are not representative of the environmental diversity of viruses. In fact, non-tailed viruses often dominate ocean samples numerically, raising the fundamental question of the nature of these viruses. Here we characterize a group of marine dsDNA non-tailed viruses with short 10-kb genomes isolated during a study that quantified the diversity of viruses infecting Vibrionaceae bacteria. These viruses, which we propose to name the Autolykiviridae, represent a novel family within the ancient lineage of double jelly roll (DJR) capsid viruses. Ecologically, members of the Autolykiviridae have a broad host range, killing on average 34 hosts in four Vibrio species, in contrast to tailed viruses which kill on average only two hosts in one species. Biochemical and physical characterization of autolykiviruses reveals multiple virion features that cause systematic loss of DJR viruses in sequencing and culture-based studies, and we describe simple procedural adjustments to recover them. We identify DJR viruses in the genomes of diverse major bacterial and archaeal phyla, and in marine water column and sediment metagenomes, and find that their diversity greatly exceeds the diversity that is currently captured by the three recognized families of such viruses. Overall, these data suggest that viruses of the non-tailed dsDNA DJR lineage are important but often overlooked predators of bacteria and archaea that impose fundamentally different predation and gene transfer regimes on microbial systems than on tailed viruses, which form the basis of all environmental models of bacteria-virus interactions.

  11. The structure of mouse cytomegalovirus m04 protein obtained from sparse NMR data reveals a conserved fold of the m02-m06 viral immune modulator family.

    PubMed

    Sgourakis, Nikolaos G; Natarajan, Kannan; Ying, Jinfa; Vogeli, Beat; Boyd, Lisa F; Margulies, David H; Bax, Ad

    2014-09-02

    Immunoevasins are key proteins used by viruses to subvert host immune responses. Determining their high-resolution structures is key to understanding virus-host interactions toward the design of vaccines and other antiviral therapies. Mouse cytomegalovirus encodes a unique set of immunoevasins, the m02-m06 family, that modulates major histocompatibility complex class I (MHC-I) antigen presentation to CD8+ T cells and natural killer cells. Notwithstanding the large number of genetic and functional studies, the structural biology of immunoevasins remains incompletely understood, largely because of crystallization bottlenecks. Here we implement a technology using sparse nuclear magnetic resonance data and integrative Rosetta modeling to determine the structure of the m04/gp34 immunoevasin extracellular domain. The structure reveals a β fold that is representative of the m02-m06 family of viral proteins, several of which are known to bind MHC-I molecules and interfere with antigen presentation, suggesting its role as a diversified immune regulation module. Copyright © 2014 Elsevier Ltd. All rights reserved.

  12. Improved lipids, diastolic pressure and kidney function are potential contributors to familial longevity: a study on 60 Chinese centenarian families.

    PubMed

    He, Yong-Han; Pu, Shao-Yan; Xiao, Fu-Hui; Chen, Xiao-Qiong; Yan, Dong-Jing; Liu, Yao-Wen; Lin, Rong; Liao, Xiao-Ping; Yu, Qin; Yang, Li-Qin; Yang, Xing-Li; Ge, Ming-Xia; Li, Ying; Jiang, Jian-Jun; Cai, Wang-Wei; Kong, Qing-Peng

    2016-02-25

    Centenarians are a good healthy aging model. Interestingly, centenarians' offspring are prone to achieve longevity. Here we recruited 60 longevity families and investigated the blood biochemical indexes of family members to seek candidate factors associated with familial longevity. First, associations of blood indexes with age were tested. Second, associations of blood parameters in centenarians (CEN) with their first generation of offspring (F1) and F1 spouses (F1SP) were analyzed. Third, genes involved in regulating target factors were investigated. We found that total cholesterol (TC) and triglyceride (TG) increased with age (20-80 years), but decreased in CEN. Similarly, blood urea nitrogen (BUN) and blood creatinine (BCr) increased with age (20-80 years), but were maintained on a plateau in CEN. Importantly, we first revealed dual changes in blood pressure, i.e., decreased diastolic blood pressure but increased systolic blood pressure in CEN, which associated with altered CST3 expression. Genetic analysis revealed a significant association of blood uric acid (BUA) and BCr in CEN with F1 but not with F1SP, suggesting they may be heritable traits. Taken together, our results suggest serum lipids, kidney function and especially diastolic pressure rather than systolic pressure were improved in CEN or their offspring, suggesting these factors may play an important role in familial longevity.

  13. Novel GABRG2 mutations cause familial febrile seizures.

    PubMed

    Boillot, Morgane; Morin-Brureau, Mélanie; Picard, Fabienne; Weckhuysen, Sarah; Lambrecq, Virginie; Minetti, Carlo; Striano, Pasquale; Zara, Federico; Iacomino, Michele; Ishida, Saeko; An-Gourfinkel, Isabelle; Daniau, Mailys; Hardies, Katia; Baulac, Michel; Dulac, Olivier; Leguern, Eric; Nabbout, Rima; Baulac, Stéphanie

    2015-12-01

    To identify the genetic cause in a large family with febrile seizures (FS) and temporal lobe epilepsy (TLE) and subsequently search for additional mutations in a cohort of 107 families with FS, with or without epilepsy. The cohort consisted of 1 large family with FS and TLE, 64 smaller French families recruited through a national French campaign, and 43 Italian families. Molecular analyses consisted of whole-exome sequencing and mutational screening. Exome sequencing revealed a p.Glu402fs*3 mutation in the γ2 subunit of the GABAA receptor gene (GABRG2) in the large family with FS and TLE. Three additional nonsense and frameshift GABRG2 mutations (p.Arg136*, p.Val462fs*33, and p.Pro59fs*12), 1 missense mutation (p.Met199Val), and 1 exonic deletion were subsequently identified in 5 families of the follow-up cohort. We report GABRG2 mutations in 5.6% (6/108) of families with FS, with or without associated epilepsy. This study provides evidence that GABRG2 mutations are linked to the FS phenotype, rather than epilepsy, and that loss-of-function of GABAA receptor γ2 subunit is the probable underlying pathogenic mechanism.

  14. Dissection of Genomewide-Scan Data in Extended Families Reveals a Major Locus and Oligogenic Susceptibility for Age-Related Macular Degeneration

    PubMed Central

    Iyengar, Sudha K.; Song, Danhong; Klein, Barbara E. K.; Klein, Ronald; Schick, James H.; Humphrey, Jennifer; Millard, Christopher; Liptak, Rachel; Russo, Karlie; Jun, Gyungah; Lee, Kristine E.; Fijal, Bonnie; Elston, Robert C.

    2004-01-01

    To examine the genetic basis of age-related macular degeneration (ARMD), a degenerative disease of the retinal pigment epithelium and neurosensory retina, we conducted a genomewide scan in 34 extended families (297 individuals, 349 sib pairs) ascertained through index cases with neovascular disease or geographic atrophy. Family and medical history was obtained from index cases and family members. Fundus photographs were taken of all participating family members, and these were graded for severity by use of a quantitative scale. Model-free linkage analysis was performed, and tests of heterogeneity and epistasis were conducted. We have evidence of a major locus on chromosome 15q (GATA50C03 multipoint P=1.98×10-7; empirical P⩽1.0×10-5; single-point P=3.6×10-7). This locus was present as a weak linkage signal in our previous genome scan for ARMD, in the Beaver Dam Eye Study sample (D15S659, multipoint P=.047), but is otherwise novel. In this genome scan, we observed a total of 13 regions on 11 chromosomes (1q31, 2p21, 4p16, 5q34, 9p24, 9q31, 10q26, 12q13, 12q23, 15q21, 16p12, 18p11, and 20q13), with a nominal multipoint significance level of P⩽.01 or LOD ⩾1.18. Family-by-family analysis of the data, performed using model-free linkage methods, suggests that there is evidence of heterogeneity in these families. For example, a single family (family 460) individually shows linkage evidence at 8 loci, at the level of P<.0001. We conducted tests for heterogeneity, which suggest that ARMD susceptibility loci on chromosomes 9p24, 10q26, and 15q21 are not present in all families. We tested for mutations in linked families and examined SNPs in two candidate genes, hemicentin-1 and EFEMP1, in subsamples (145 and 189 sib pairs, respectively) of the data. Mutations were not observed in any of the 11 exons of EFEMP1 nor in exon 104 of hemicentin-1. The SNP analysis for hemicentin-1 on 1q31 suggests that variants within or in very close proximity to this gene cause ARMD

  15. Children's Literacy: Children's Books for Healthy Families/Libros de Ninos Para Familias Saludables.

    ERIC Educational Resources Information Center

    Kock, Jo Anne

    2003-01-01

    A 2-year project taught reading methods and provided culturally appropriate books for Spanish-speaking and English-speaking families (year 1, 1,013 families; year 2, 1,408 families). Data from home visits and follow-up surveys (n=207) revealed that positive parent/child interaction and time spent reading to children increased and the number of…

  16. The Multivariate Roles of Family Instability and Interparental Conflict in Predicting Children’s Representations of Insecurity in the Family System and Early School Adjustment Problems

    PubMed Central

    Coe, Jesse L.; Davies, Patrick T.; Sturge-Apple, Melissa L.

    2016-01-01

    This study examined the moderating role of family instability in relations involving destructive interparental conflict, children’s internal representations of insecurity in the family system, and their early school maladjustment. Two hundred forty-three preschool children (M age = 4.60 years; 56% girls) and their families participated in this multi-method (i.e., observations, structured interview, surveys) multi-informant (i.e., observer, parent, teacher), longitudinal study. Findings indicated that the mediational role of children’s insecure family representations in the pathway between destructive interparental conflict and children’s adjustment problems varied significantly depending on the level of family instability. Interparental conflict was specifically associated with insecure family representations only under conditions of low family instability. In supporting the role of family instability as a vulnerable-stable risk factor, follow up analyses revealed that children’s concerns about security in the family were uniformly high under conditions of heightened instability regardless of their level of exposure to interparental conflict. PMID:27146062

  17. Interaction of a putative BH3 domain of clusterin with anti-apoptotic Bcl-2 family proteins as revealed by NMR spectroscopy

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Lee, Dong-Hwa; Ha, Ji-Hyang; Kim, Yul

    Highlights: {yields} Identification of a conserved BH3 motif in C-terminal coiled coil region of nCLU. {yields} The nCLU BH3 domain binds to BH3 peptide-binding grooves in both Bcl-X{sub L} and Bcl-2. {yields} A conserved binding mechanism of nCLU BH3 and the other pro-apoptotic BH3 peptides with Bcl-X{sub L}. {yields} The absolutely conserved Leu323 and Asp328 of nCLU BH3 domain are critical for binding to Bcl-X{sub L.} {yields} Molecular understanding of the pro-apoptotic function of nCLU as a novel BH3-only protein. -- Abstract: Clusterin (CLU) is a multifunctional glycoprotein that is overexpressed in prostate and breast cancers. Although CLU is knownmore » to be involved in the regulation of apoptosis and cell survival, the precise molecular mechanism underlying the pro-apoptotic function of nuclear CLU (nCLU) remains unclear. In this study, we identified a conserved BH3 motif in C-terminal coiled coil (CC2) region of nCLU by sequence analysis and characterized the molecular interaction of the putative nCLU BH3 domain with anti-apoptotic Bcl-2 family proteins by nuclear magnetic resonance (NMR) spectroscopy. The chemical shift perturbation data demonstrated that the nCLU BH3 domain binds to pro-apoptotic BH3 peptide-binding grooves in both Bcl-X{sub L} and Bcl-2. A structural model of the Bcl-X{sub L}/nCLU BH3 peptide complex reveals that the binding mode is remarkably similar to those of other Bcl-X{sub L}/BH3 peptide complexes. In addition, mutational analysis confirmed that Leu323 and Asp328 of nCLU BH3 domain, absolutely conserved in the BH3 motifs of BH3-only protein family, are critical for binding to Bcl-X{sub L}. Taken altogether, our results suggest a molecular basis for the pro-apoptotic function of nCLU by elucidating the residue specific interactions of the BH3 motif in nCLU with anti-apoptotic Bcl-2 family proteins.« less

  18. Siblings of Military Servicemembers: A Qualitative Exploration of Individual and Family Systems Reactions

    PubMed Central

    Rodriguez, Aubrey J.; Margolin, Gayla

    2012-01-01

    How does having a sibling in the military affect young adults? Despite increasing attention to the challenges faced by spouses and children of servicemembers, the siblings of servicemembers have been largely ignored. This qualitative investigation uses unstructured narratives to explore siblings’ perceptions of changes in their lives and changes in the family of origin associated with having a family member enlist in the United States military. Thematic analyses revealed an acute period of conflict followed by reorganization, awareness of the parents’ distress, changes in the emotional climate of the family, shifts in family roles, admiration for the military sibling, and increased meaning and purpose for the family following the servicemember’s enlistment. Computer-assisted text analyses revealed both positive and negative emotional content associated with the siblings’ military service. For professional psychologists who come into contact with siblings of servicemembers, it is important to recognize that military enlistment can have ripple effects and complicate other common individual and family stresses. More generally, it is important to provide siblings and the family of origin with information about what to expect during and after the servicemember’s enlistment, especially since these families may lack support and contact from others going through similar transitions. PMID:22815592

  19. Multiple etiologies for Alzheimer disease are revealed by segregation analysis

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Rao, V.S.; Connor-Lacke, L.; Cupplies, L.A.

    1994-11-01

    We have evaluated several transmission models for Alzheimer disease (AD), using the logistic regressive approach in 401 nuclear families of consecutively ascertained and rigorously diagnosed probands. Models postulating no major gene effect, random environmental transmission, recessive inheritance, and sporadic occurrence were rejected under varied assumptions regarding the associations among sex, age, and major gene susceptibility. Transmission of the disorder was not fully explained by a single Mendelian model for all families. Stratification of families as early- and late-onset by using the median of family mean onset ages showed that, regardless of the model studied, two groups of families fit bettermore » than a single group. AD in early-onset families is transmitted as an autosomal dominant trait with full penetrance in both sexes and has a gene frequency of 1.5%. Dominant inheritance also gave the best fit of the data in late-onset families, but this hypothesis was rejected, suggesting the presence of heterogeneity within this subset. Our study also revealed that genetically nonsusceptible males and females develop AD, indicating the presence of phenocopies within early-onset and late-onset groups. Moreover, our results suggest that the higher risk to females is not solely due to their increased longevity. 50 refs., 5 tabs.« less

  20. Exome sequencing of a colorectal cancer family reveals shared mutation pattern and predisposition circuitry along tumor pathways

    PubMed Central

    Suleiman, Suleiman H.; Koko, Mahmoud E.; Nasir, Wafaa H.; Elfateh, Ommnyiah; Elgizouli, Ubai K.; Abdallah, Mohammed O. E.; Alfarouk, Khalid O.; Hussain, Ayman; Faisal, Shima; Ibrahim, Fathelrahamn M. A.; Romano, Maurizio; Sultan, Ali; Banks, Lawrence; Newport, Melanie; Baralle, Francesco; Elhassan, Ahmed M.; Mohamed, Hiba S.; Ibrahim, Muntaser E.

    2015-01-01

    The molecular basis of cancer and cancer multiple phenotypes are not yet fully understood. Next Generation Sequencing promises new insight into the role of genetic interactions in shaping the complexity of cancer. Aiming to outline the differences in mutation patterns between familial colorectal cancer cases and controls we analyzed whole exomes of cancer tissues and control samples from an extended colorectal cancer pedigree, providing one of the first data sets of exome sequencing of cancer in an African population against a background of large effective size typically with excess of variants. Tumors showed hMSH2 loss of function SNV consistent with Lynch syndrome. Sets of genes harboring insertions–deletions in tumor tissues revealed, however, significant GO enrichment, a feature that was not seen in control samples, suggesting that ordered insertions–deletions are central to tumorigenesis in this type of cancer. Network analysis identified multiple hub genes of centrality. ELAVL1/HuR showed remarkable centrality, interacting specially with genes harboring non-synonymous SNVs thus reinforcing the proposition of targeted mutagenesis in cancer pathways. A likely explanation to such mutation pattern is DNA/RNA editing, suggested here by nucleotide transition-to-transversion ratio that significantly departed from expected values (p-value 5e-6). NFKB1 also showed significant centrality along with ELAVL1, raising the suspicion of viral etiology given the known interaction between oncogenic viruses and these proteins. PMID:26442106

  1. Drug Use in Soldiers: Family and Peer Contextual Associations.

    PubMed

    Habibi, Mojtaba; Darharaj, Mohammad; Kelly, Adrian B; Shahmiri, Hasan; Malekianjabali, Mona; Kheirolomoom, Seyedeh Leili

    2017-08-24

    Given the stressful nature of military life, people in the armed forces are vulnerable to substance use. The aim of this study was to explore the relationship between family and peers with drug use among military forces in Iran. Convenience sampling was used to recruit a total of 422 draftees doing military service in army units in Tehran, Iran. Measures of family and peers' risk and protective factors, alcohol use, and other drug use were administered. Findings indicated significant relationships between family (i.e., family models for risk behavior, parent sanctions, and family controls) and peers (i.e., peer modeling for risk behavior, peer controls, support from friends) with drug use. A multiple regression analysis revealed that peer modeling for risk behavior, family models for risk behavior, and parent sanctions were significant predictors of drug use in soldiers. These results were consistent with the influence of family and peer on drug use amongst soldiers. Programs designed to reduce alcohol and other drug use may benefit from tailoring to fit risk and protective files amongst peer and family networks.

  2. Social Class in Family Therapy Education: Experiences of Low SES Students

    ERIC Educational Resources Information Center

    McDowell, Teresa; Brown, Andrae' L.; Cullen, Nicole; Duyn, April

    2013-01-01

    In this article, we report the results of a national survey of students in COAMFTE-accredited family therapy programs who self-identify as coming from lower- or working-class backgrounds. Results of the study reveal opportunity and tension relative to family, friends, and community because of social mobility associated with graduate education.…

  3. Canada's Families Today: Some Policy Implications of Changing Forms and Patterns.

    ERIC Educational Resources Information Center

    Glossop, Robert

    A summary review of facts, figures, and trends concerning family life in Canada reveals patterns of continuity and patterns of change. Generalizations about the average family no longer suffice (if ever they did) as the basis for government policies and programs, corporate personnel practices, and the organization and administration of schools.…

  4. A Case–control and a family-based association study revealing an association between CYP2E1 polymorphisms and nasopharyngeal carcinoma risk in Cantonese

    PubMed Central

    Jia, Wei-Hua; Pan, Qing-Hua; Qin, Hai-De; Xu, Ya-Fei; Shen, Guo-Ping; Chen, Lina; Chen, Li-Zhen; Feng, Qi-Sheng; Hong, Ming-Huang; Zeng, Yi-Xin; Shugart, Yin Yao

    2009-01-01

    Nasopharyngeal carcinoma (NPC) is rare in most parts of the world but is more prevalent in Southern China, especially in Guangdong. The cytochrome P450 2E1 (CYP2E1) has been recognized as one of the critically important enzymes involved in oxidizing carcinogens and is probably to be associated with NPC carcinogenesis. To systematically investigate the association between genetic variants in CYP2E1 and NPC risk in Cantonese, two independent studies, a family-based association study and a case–control study, were conducted using the haplotype-tagging single-nucleotide polymorphism approach. A total of 2499 individuals from 546 nuclear families were initially genotyped for the family-based association study. Single-nucleotide polymorphisms (SNPs) rs9418990, rs915908, rs8192780, rs1536826, rs3827688 and one haplotype h2 (CGTGTTAA) were revealed to be significantly associated with the NPC phenotype (P = 0.045–0.003 and P = 0.003, respectively). To follow up the initial study, a case–control study including 755 cases and 755 controls was conducted. Similar results were observed in the case–control study in individuals <46 years of age and had a history of cigarette smoking, with odds ratios (ORs) of specific genotypes ranging from 1.88 to 2.99 corresponding to SNP rs9418990, rs3813865, rs915906, rs2249695, rs8192780, rs1536826, rs3827688 and of haplotypes h2 with OR = 1.65 (P = 0.026), h5 (CCCGTTAA) with OR = 2.58 (P = 0.007). The values of false-positive report probability were <0.015 for six SNPs, suggesting that the reported associations are less probably to be false. This study provides robust evidence for associations between genetic variants of CYP2E1 and NPC risk. PMID:19805575

  5. Vibrio vulnificus: An Environmental and Clinical Burden

    PubMed Central

    Heng, Sing-Peng; Letchumanan, Vengadesh; Deng, Chuan-Yan; Ab Mutalib, Nurul-Syakima; Khan, Tahir M.; Chuah, Lay-Hong; Chan, Kok-Gan; Goh, Bey-Hing; Pusparajah, Priyia; Lee, Learn-Han

    2017-01-01

    Vibrio vulnificus is a Gram negative, rod shaped bacterium that belongs to the family Vibrionaceae. It is a deadly, opportunistic human pathogen which is responsible for the majority of seafood-associated deaths worldwide. V. vulnificus infection can be fatal as it may cause severe wound infections potentially requiring amputation or lead to sepsis in susceptible individuals. Treatment is increasingly challenging as V. vulnificus has begun to develop resistance against certain antibiotics due to their indiscriminate use. This article aims to provide insight into the antibiotic resistance of V. vulnificus in different parts of the world as well as an overall review of its clinical manifestations, treatment, and prevention. Understanding the organism's antibiotic resistance profile is vital in order to select appropriate treatment and initiate appropriate prevention measures to treat and control V. vulnificus infections, which should eventually help lower the mortality rate associated with this pathogen worldwide. PMID:28620366

  6. The family dynamics of intellectual development.

    PubMed

    Zajonc, R B

    2001-01-01

    Birth order effects on intellectual performance show both positive and negative results. The confluence model reconciles these conflicting data by proving that these effects interact with the age of participants at testing, such that young children should show negative or no effects, whereas older individuals (past age 11 +/- 2 years) should show positive effects. Birth order studies strongly support this prediction. Some writers have claimed the apparent relation between birth order and intelligence is an artifact created by applying a cross-sectional analysis to data that should have been analyzed by comparing siblings within families. However, if siblings within the same family are compared all at the same time, their ages are necessarily different. As a result, birth order effects are confounded with age effects. Moreover, within-family data conceal patterns of aggregate effects that cross-sectional data reveal.

  7. Diverse Family Types and Out-of-School Learning Time of Young School-Age Children

    ERIC Educational Resources Information Center

    Ono, Hiromi; Sanders, James

    2010-01-01

    Sources of differentials in out-of-school learning time between children in first marriage biological parent families and children in six nontraditional family types are identified. Analyses of time diaries reveal that children in four of the six nontraditional family types spend fewer minutes learning than do children in first marriage biological…

  8. Psychological implications of living with familial adenomatous polyposis.

    PubMed

    Claes, E; Renson, M; Delespesse, A; De Hoe, V; Haelterman, G; Kartheuser, A; Van Cutsem, E

    2011-09-01

    Psychosocial implications of living with FAP remain largely unexplored. This article reviews available literature on three topics: 1) Implications of living with FAP 2) genetic testing and reproductive decision-making and 3) family communication. Papers published until 2009 about psychosocial and behavioral issues in FAP were identified. Psychometric data indicate that FAP patients and at-risk relatives as a group do not exhibit clinical symptoms of mental health problems after clinical or genetic diagnosis. However, some subgroups revealed to be more vulnerable to distress. Also, concerns related to the disease and its consequences were reported. While interest in prenatal diagnosis or preimplantation genetic diagnosis seems to be high it is important to study actual uptake because this may reveal to be much lower. Family members are an important source of information and the few available data suggest that family communication is problematic. The findings described have several shortcomings. They were obtained from only a few studies often conducted using specific or mixed study groups, originating from the 90ties and mostly cross-sectional in nature. For clinical practice, it is important to have more research data on how FAP patients at different ages cope with the disease, on the impact of genetic testing on reproductive decision-making and on family communication. Results reported here need to be confirmed by additional research and new themes need to be explored.

  9. Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family

    PubMed Central

    Hewitt, A.W.; Ruddle, J.B.; Vote, B.; Buttery, R.G.; Toomes, C.; Metlapally, R.; Li, Y.J.; Tran-Viet, K.N.; Malecaze, F.; Calvas, P.; Rosenberg, T.; Guggenheim, J.A.; Young, T.L.

    2011-01-01

    Purpose To describe an Australian pedigree of European descent with a variable autosomal dominant phenotype of: pediatric cortical cataract (CC), asymmetric myopia with astigmatism, familial exudative vitreoretinopathy (FEVR), and primary open-angle glaucoma (POAG). Methods Probands with CC, FEVR, and POAG were enrolled in three independent genetic eye studies in Tasmania. Genealogy confirmed these individuals were closely related and subsequent examination revealed 11 other family members with some or all of the associated disorders. Results Twelve individuals had CC thought to be of childhood onset, with one child demonstrating progressive lenticular opacification. One individual had severe retinal detachment while five others had dragged retinal vessels. Seven individuals had POAG. Seven individuals had myopia in at least one eye ≤-3 Diopters. DNA testing excluded mutations in myocilin, trabecular meshwork inducible glucocorticoid response (MYOC) and tetraspanin 12 (TSPAN12). Haplotype analysis excluded frizzled family receptor 4 (FZD4) and low density lipoprotein receptor-related protein 5 (LRP5), but only partly excluded EVR3. Multipoint linkage analysis revealed multiple chromosomal single-nucleotide polymorphisms (SNPs) of interest, but no statistically significant focal localization. Conclusions This unusual clustering of ophthalmic diseases suggests a possible single genetic cause for an apparently new cataract syndrome. This family’s clinical ocular features may reflect the interplay between retinal disease with lenticular changes and axial length in the development of myopia and glaucoma. PMID:21850187

  10. Brief Report: An Autistic Spectrum Subtype Revealed through Familial Psychopathology Coupled with Cognition in ASD

    ERIC Educational Resources Information Center

    Lajiness-O'Neill, Renee; Menard, Philip

    2008-01-01

    This study identified a possible autistic spectrum subtype expressed through family psychopathology coupled with autistic probands' cognitive functioning (i.e., an endophenotypic profile). Participants included 24 children with Autism Spectrum Disorder (ASD) and 49 children with Learning Disorder (LD). There were significantly higher rates of Mood…

  11. Structure and transcriptional regulation of the major intrinsic protein gene family in grapevine.

    PubMed

    Wong, Darren Chern Jan; Zhang, Li; Merlin, Isabelle; Castellarin, Simone D; Gambetta, Gregory A

    2018-04-11

    The major intrinsic protein (MIP) family is a family of proteins, including aquaporins, which facilitate water and small molecule transport across plasma membranes. In plants, MIPs function in a huge variety of processes including water transport, growth, stress response, and fruit development. In this study, we characterize the structure and transcriptional regulation of the MIP family in grapevine, describing the putative genome duplication events leading to the family structure and characterizing the family's tissue and developmental specific expression patterns across numerous preexisting microarray and RNAseq datasets. Gene co-expression network (GCN) analyses were carried out across these datasets and the promoters of each family member were analyzed for cis-regulatory element structure in order to provide insight into their transcriptional regulation. A total of 29 Vitis vinifera MIP family members (excluding putative pseudogenes) were identified of which all but two were mapped onto Vitis vinifera chromosomes. In this study, segmental duplication events were identified for five plasma membrane intrinsic protein (PIP) and four tonoplast intrinsic protein (TIP) genes, contributing to the expansion of PIPs and TIPs in grapevine. Grapevine MIP family members have distinct tissue and developmental expression patterns and hierarchical clustering revealed two primary groups regardless of the datasets analyzed. Composite microarray and RNA-seq gene co-expression networks (GCNs) highlighted the relationships between MIP genes and functional categories involved in cell wall modification and transport, as well as with other MIPs revealing a strong co-regulation within the family itself. Some duplicated MIP family members have undergone sub-functionalization and exhibit distinct expression patterns and GCNs. Cis-regulatory element (CRE) analyses of the MIP promoters and their associated GCN members revealed enrichment for numerous CREs including AP2/ERFs and NACs

  12. Implicit orientation toward family and school among bilingual Latino college students.

    PubMed

    Devos, Thierry; Blanco, Karla; Muñoz, Cynthia; Dunn, Roger; Ulloa, Emilio C

    2008-08-01

    The authors examined the associations that underlie the orientations of bilingual Latino college students toward family and school. Participants completed, in English or Spanish, 3 implicit association tests assessing their attitude toward family vs. school, identifications with these concepts, and self-esteem. Results revealed a more positive attitude toward, and stronger identification with, family than school. Identification with family was stronger among participants who completed the study in English, suggesting self-definition in terms of distinctions from the context. Last, the more participants valued family over school and identified with family rather than school, the higher was their self-esteem. These findings shed light on the subtle, yet crucial, mechanisms by which cultural knowledge is incorporated in the self-concept of bilingual Latino college students.

  13. Implicit Orientation Toward Family and School Among Bilingual Latino College Students

    PubMed Central

    DEVOS, THIERRY; BLANCO, KARLA; MUÑOZ, CYNTHIA; DUNN, ROGER; ULLOA, EMILIO C.

    2015-01-01

    The authors examined the associations that underlie the orientations of bilingual Latino college students toward family and school. Participants completed, in English or Spanish, 3 implicit association tests assessing their attitude toward family vs. school, identifications with these concepts, and self-esteem. Results revealed a more positive attitude toward, and stronger identification with, family than school. Identification with family was stronger among participants who completed the study in English, suggesting self-definition in terms of distinctions from the context. Last, the more participants valued family over school and identified with family rather than school, the higher was their self-esteem. These findings shed light on the subtle, yet crucial, mechanisms by which cultural knowledge is incorporated in the self-concept of bilingual Latino college students. PMID:18807421

  14. Family ties: constructing family time in low-income families.

    PubMed

    Tubbs, Carolyn Y; Roy, Kevin M; Burton, Linda M

    2005-03-01

    "Family time" is reflected in the process of building and fortifying family relationships. Whereas such time, free of obligatory work, school, and family maintenance activities, is purchased by many families using discretionary income, we explore how low-income mothers make time for and give meaning to focused engagement and relationship development with their children within time constraints idiosyncratic to being poor and relying on welfare. Longitudinal ethnographic data from 61 low-income African American, European American, and Latina American mothers were analyzed to understand how mothers construct family time during daily activities such as talking, play, and meals. We also identify unique cultural factors that shape family time for low-income families, such as changing temporal orientations, centrality of television time, and emotional burdens due to poverty. Implications for family therapy are also discussed.

  15. Multifractal analysis of Moroccan family business stock returns

    NASA Astrophysics Data System (ADS)

    Lahmiri, Salim

    2017-11-01

    In this paper, long-range temporal correlations at different scales in Moroccan family business stock returns are investigated. For comparison purpose, presence of multifractality is also investigated in Casablanca Stock Exchange (CSE) major indices: MASI which is the all shares index and MADEX which is the index of most liquid shares. It is found that return series of both family business companies and major stock market indices show strong evidence of multifractality. In particular, empirical results reveal that short (long) fluctuations in family business stock returns are less (more) persistent (anti-persistent) than short fluctuations in market indices. In addition, both serial correlation and distribution characteristics significantly influence the strength of the multifractal spectrums of CSE and family business stocks returns. Furthermore, results from multifractal spectrum analysis suggest that family business stocks are less risky. Thus, such differences in price dynamics could be exploited by investors and forecasters in active portfolio management.

  16. Molecular and clinical studies of X-linked deafness among Pakistani families.

    PubMed

    Waryah, Ali M; Ahmed, Zubair M; Bhinder, Munir A; Binder, Munir A; Choo, Daniel I; Sisk, Robert A; Shahzad, Mohsin; Khan, Shaheen N; Friedman, Thomas B; Riazuddin, Sheikh; Riazuddin, Saima

    2011-07-01

    There are 68 sex-linked syndromes that include hearing loss as one feature and five sex-linked nonsyndromic deafness loci listed in the OMIM database. The possibility of additional such sex-linked loci was explored by ascertaining three unrelated Pakistani families (PKDF536, PKDF1132 and PKDF740) segregating X-linked recessive deafness. Sequence analysis of POU3F4 (DFN3) in affected members of families PKDF536 and PKDF1132 revealed two novel nonsense mutations, p.Q136X and p.W114X, respectively. Family PKDF740 is segregating congenital blindness, mild-to-profound progressive hearing loss that is characteristic of Norrie disease (MIM#310600). Sequence analysis of NDP among affected members of this family revealed a novel single nucleotide deletion c.49delG causing a frameshift and premature truncation (p.V17fsX1) of the encoded protein. These mutations were not found in 150 normal DNA samples. Identification of pathogenic alleles causing X-linked recessive deafness will improve molecular diagnosis, genetic counseling and molecular epidemiology of hearing loss among Pakistanis.

  17. Molecular and Clinical Studies of X-linked Deafness Among Pakistani Families

    PubMed Central

    Waryah, Ali M.; Ahmed, Zubair M.; Choo, Daniel I.; Sisk, Robert A.; Binder, Munir A.; Shahzad, Mohsin; Khan, Shaheen N.; Friedman, Thomas B.; Riazuddin, Sheikh; Riazuddin, Saima

    2011-01-01

    There are 68 sex-linked syndromes that include hearing loss as one feature and five sex-linked nonsyndromic deafness loci listed in the OMIM database. The possibility of additional such sex-linked loci was explored by ascertaining three unrelated Pakistani families (PKDF536, PKDF1132, PKDF740) segregating X-linked recessive deafness. Sequence analysis of POU3F4 (DFN3) in affected members of families PKDF536 and PKDF1132 revealed two novel nonsense mutations, p.Q136X and p.W114X, respectively. Family PKDF740 is segregating congenital blindness, mild to profound progressive hearing loss that is characteristic of Norrie disease (MIM#310600). Sequence analysis of NDP among affected members of this family revealed a novel single nucleotide deletion c.49delG causing a frameshift and premature truncation (p.V17fsX1) of the encoded protein. These mutations were not found in 150 normal DNA samples. Identification of pathogenic alleles causing X-linked recessive deafness will improve molecular diagnosis, genetic counseling, and molecular epidemiology of hearing loss among Pakistanis. PMID:21633365

  18. Family support group in psychosocial rehabilitation

    PubMed Central

    Ponnuchamy, L.; Mathew, Baijumon K.; Mathew, Sheeba; Udayakumar, G.S.; Kalyanasundaram, S.; Ramprasad, Dharitri

    2005-01-01

    Background: Support groups for families of persons with mental illness are emerging as significant components in psychosocial rehabilitation programmes. Aim: To ascertain the expectations of family members who attend family support group meetings and to find out the efficacy of such programmes. Methods: The data were collected from support group members using a semi-structured interview schedule. The study sample (n=20) was drawn from family members who attended the support group meetings regularly for a minimum period of 6 months. Data analysis was done using percentile. Results: Analysis of the data revealed that members attending the support group meetings expected to get more information about the illness, develop skills to cope with problems at home and learn skills to deal with the ill person. An important finding of the study was that the members developed a ‘feeling of togetherness’ as a result of being a member of a group with common aims. Conclusion: Participation in a support group meeting positively affects key variables in the participant's adaptation to mental illness in a relative. PMID:20814460

  19. Identifying asteroid families >2 Gyrs-old

    NASA Astrophysics Data System (ADS)

    Bolin, Bryce T.; Morbidelli, Alessandro; Delbo, Marco; Walsh, Kevin J.

    2017-10-01

    There are only a few known Main Belt (MB) asteroid families with ages >2 Gyr. The lack of ancient families may be due to a bias in current techniques used to identify families. Ancient asteroid family fragments disperse in their orbital elements (a,e,i), due to secular resonances and the Yarkovsky effect (YE) making them difficult to identify. We have developed a new technique that is insensitive to the resonant spreading of fragments in e and i by searching for V-shaped correlations between family members in a vs 1/Diameter space. Our V-shape technique is demonstrated on known families and used to discover a 4 Gyr-old family linking most dark asteroids in the inner MB previously not included in any known family. In addition, the 4 Gyr-old family reveals asteroids with D >35 km that are do not belong to any asteroid family implying that they originally accreted from the protoplanetary disk.The V-shape detection tool is also a powerful analysis tool by finding the boundary of an asteroid family and fitting for its shape. Following the proposed relationship between thermal inertia (TI) with D, we find that asteroids YE drift rate might have a more complex size dependence than previous thought, leading to a curved family boundary in a vs 1/D space. The V-shape tool is capable of detecting this on synthetic families and was deployed on >30 families located throughout the MB to find this effect and quantify the YE size-dependent drift rate. We find that there is no correlation between family age and V-shape curvature. In addition, the V-shape curvature decreases for asteroid families with larger a suggesting that the relationship between TI and D is weaker in the outer MB.By examining families <20 Myrs-old, we can use this tool to separate family shape that is due to the initial ejection velocity and that which is due to the YE drift rate. V-shapes which do not contain any spreading due to YE preserve their initial ejection velocity. We constrain the initial initial

  20. Understanding Adoptive Families: An Integrative Review of Empirical Research and Future Directions for Counseling Psychology

    ERIC Educational Resources Information Center

    O'Brien, Karen M.; Zamostny, Kathy P.

    2003-01-01

    Contrary to societal stereotypes about adoption, this integrative review of published empirical research on adoptive families noted several positive and few negative out-comes with regard to satisfaction with the adoption, familial functioning, and parent-child communication. The critical analysis of 38 studies on adoptive families revealed a…

  1. Familial Influences on Poverty Among Young Children in Black Immigrant, U.S.-born Black, and Nonblack Immigrant Families

    PubMed Central

    Thomas, Kevin J. A.

    2014-01-01

    This study examines how familial contexts affect poverty disparities between the children of immigrant and U.S.-born blacks, and among black and nonblack children of immigrants. Despite lower gross child poverty rates in immigrant than in U.S.-born black families, accounting for differences in family structure reveals that child poverty risks among blacks are highest in single-parent black immigrant families. In addition, within two-parent immigrant families, child poverty declines associated with increasing assimilation are greater than the respective declines in single-parent families. The heads of black immigrant households have more schooling than those of native-black households. However, increased schooling has a weaker negative association with child poverty among the former than among the latter. In terms of racial disparities among the children of immigrants, poverty rates are higher among black than nonblack children. This black disadvantage is, however, driven by the outcomes of first-generation children of African and Hispanic-black immigrants. The results also show that although children in refugee families face elevated poverty risks, these risks are higher among black than among nonblack children of refugees. In addition, the poverty-reducing impact associated with having an English-proficient household head is about three times lower among black children of immigrants than among non-Hispanic white children of immigrants. PMID:21491186

  2. Political Attitude Congruence between Politically Active Parents and College-Age Children: An Inquiry into Family Political Socialization.

    ERIC Educational Resources Information Center

    Thomas, L. Eugene

    A brief introductory review of the literature reveals that research on family influence in the development of political orientations in adult children is inconclusive. This study focused on highly politicized families and examines: (1) the relative influence of family emotional climate versus family political climate; and (2) the relative…

  3. Daily spillover from family to work: A test of the work-home resources model.

    PubMed

    Du, Danyang; Derks, Daantje; Bakker, Arnold B

    2018-04-01

    The present study examines a mediated moderation model of the day-level effects of family hassles and family-work spillover (affect and cognition) on the relationship between job resources and employees' flourishing at work. Based on the work-home resources model, the authors hypothesized that demands from one domain (family) induce repetitive thoughts or negative feelings about those problems, so that individuals are not able to function optimally and to make full use of contextual resources in the other domain (work). Multilevel analyses of 108 Chinese working parents' 366 daily surveys revealed that the relationship between morning job resources and afternoon flourishing was significantly positive when previous day family hassles were low; the relationship became nonsignificant when previous day family hassles were high. In addition, as predicted, daily rumination also attenuated the relationship between morning job resources and afternoon flourishing, whereas daily affect did not. Finally, the moderating effect of previous day family hassles was mediated by daily rumination. The findings contribute to spillover theories by revealing the roles of affective and cognitive spillover from family to work. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

  4. Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation.

    PubMed

    Ijaz, Sadaqat; Zahoor, Muhammad Yasir; Imran, Muhammad; Afzal, Sibtain; Bhinder, Munir A; Ullah, Ihsan; Cheema, Huma Arshad; Ramzan, Khushnooda; Shehzad, Wasim

    2016-03-01

    Hereditary tyrosinemia type 1 (HT1) is a rare inborn error of tyrosine catabolism with a worldwide prevalence of one out of 100,000 live births. HT1 is clinically characterized by hepatic and renal dysfunction resulting from the deficiency of fumarylacetoacetate hydrolase (FAH) enzyme, caused by recessive mutations in the FAH gene. We present here the first report on identification of FAH mutations in HT1 patients from Pakistan with a novel one. Three Pakistani families, each having one child affected with HT1, were enrolled over a period of 1.5 years. Two of the affected children had died as they were presented late with acute form. All regions of the FAH gene spanning exons and splicing sites were amplified by polymerase chain reaction (PCR) and mutation analysis was carried out by direct sequencing. Results of sequencing were confirmed by restriction fragment length polymorphism (PCR-RFLP) analysis. Three different FAH mutations, one in each family, were found to co-segregate with the disease phenotype. Two of these FAH mutations have been known (c.192G>T and c.1062+5G>A [IVS12+5G>A]), while c.67T>C (p.Ser23Pro) was a novel mutation. The novel variant was not detected in any of 120 chromosomes from normal ethnically matched individuals. Most of the HT1 patients die before they present to hospitals in Pakistan, as is indicated by enrollment of only three families in 1.5 years. Most of those with late clinical presentation do not survive due to delayed diagnosis followed by untimely treatment. This tragic condition advocates the establishment of expanded newborn screening program for HT1 within Pakistan.

  5. Empowerment of family caregivers of adults and elderly persons: A concept analysis.

    PubMed

    Sakanashi, Sayori; Fujita, Kimie

    2017-10-01

    This concept analysis defined and described the components of empowerment of family caregivers who care for adults and the elderly. Rodgers evolutionary method of concept analysis was used. Data sources included Pub Med, CINAHL, Scopus, and Igaku Chuo Zasshi. Thirty articles published between 1995 and 2015 focusing on the empowerment of family caregivers providing care to adults and the elderly were selected. The analysis reveals 6 attributes, 5 antecedents, and 5 consequences. In addition, the results reveal structured aspects of family caregivers, care receivers, and other people surrounding them, and their relationships. Empowerment of adults' and elders' family caregivers may be defined as "positive control of one's mind and body, cultivating a positive attitude, proactively attempting to understand one's role as a caregiver to improve caregiving capabilities, focusing on others as well as oneself, supporting the independence of the care receiver, and creating constructive relationships with other people surrounding them." The components of empowerment clarified in this research can be used for the measurement of and interventions aimed at improving empowerment among family caregivers. Furthermore, clarifying the definition of empowerment among family caregivers enables researchers to better distinguish empowerment from similar concepts in the future. © 2017 John Wiley & Sons Australia, Ltd.

  6. The alternative oxidase family of Vitis vinifera reveals an attractive model to study the importance of genomic design.

    PubMed

    Costa, José Hélio; de Melo, Dirce Fernandes; Gouveia, Zélia; Cardoso, Hélia Guerra; Peixe, Augusto; Arnholdt-Schmitt, Birgit

    2009-12-01

    'Genomic design' refers to the structural organization of gene sequences. Recently, the role of intron sequences for gene regulation is being better understood. Further, introns possess high rates of polymorphism that are considered as the major source for speciation. In molecular breeding, the length of gene-specific introns is recognized as a tool to discriminate genotypes with diverse traits of agronomic interest. 'Economy selection' and 'time-economy selection' have been proposed as models for explaining why highly expressed genes typically contain small introns. However, in contrast to these theories, plant-specific selection reveals that highly expressed genes contain introns that are large. In the presented research, 'wet'Aox gene identification from grapevine is advanced by a bioinformatics approach to study the species-specific organization of Aox gene structures in relation to available expressed sequence tag (EST) data. Two Aox1 and one Aox2 gene sequences have been identified in Vitis vinifera using grapevine cultivars from Portugal and Germany. Searching the complete genome sequence data of two grapevine cultivars confirmed that V. vinifera alternative oxidase (Aox) is encoded by a small multigene family composed of Aox1a, Aox1b and Aox2. An analysis of EST distribution revealed high expression of the VvAox2 gene. A relationship between the atypical long primary transcript of VvAox2 (in comparison to other plant Aox genes) and its expression level is suggested. V. vinifera Aox genes contain four exons interrupted by three introns except for Aox1a which contains an additional intron in the 3'-UTR. The lengths of primary Aox transcripts were estimated for each gene in two V. vinifera varieties: PN40024 and Pinot Noir. In both varieties, Aox1a and Aox1b contained small introns that corresponded to primary transcript lengths ranging from 1501 to 1810 bp. The Aox2 of PN40024 (12 329 bp) was longer than that from Pinot Noir (7279 bp) because of selection

  7. Gourds afloat: a dated phylogeny reveals an Asian origin of the gourd family (Cucurbitaceae) and numerous oversea dispersal events

    PubMed Central

    Schaefer, Hanno; Heibl, Christoph; Renner, Susanne S.

    2008-01-01

    Knowing the geographical origin of economically important plants is important for genetic improvement and conservation, but has been slowed by uneven geographical sampling where relatives occur in remote areas of difficult access. Less biased species sampling can be achieved when herbarium collections are included as DNA sources. Here, we address the history of Cucurbitaceae, one of the most economically important families of plants, using a multigene phylogeny for 114 of the 115 genera and 25 per cent of the 960 species. Worldwide sampling was achieved by using specimens from 30 herbaria. Results reveal an Asian origin of Cucurbitaceae in the Late Cretaceous, followed by the repeated spread of lineages into the African, American and Australian continents via transoceanic long-distance dispersal (LDD). North American cucurbits stem from at least seven range expansions of Central and South American lineages; Madagascar was colonized 13 times, always from Africa; Australia was reached 12 times, apparently always from Southeast Asia. Overall, Cucurbitaceae underwent at least 43 successful LDD events over the past 60 Myr, which would translate into an average of seven LDDs every 10 Myr. These and similar findings from other angiosperms stress the need for an increased tapping of museum collections to achieve extensive geographical sampling in plant phylogenetics. PMID:19033142

  8. Familial Pallister-Hall in adulthood.

    PubMed

    Talsania, Mitali; Sharma, Rohan; Sughrue, Michael E; Scofield, R Hal; Lim, Jonea

    2017-10-01

    Pallister Hall syndrome is autosomal dominant disorder usually diagnosed in infants and children. Current diagnostic criteria include presence of hypothalamic hamartoma, post axial polydactyly and positive family history, but the disease has variable manifestations. Herein we report Pallister Hall syndrome diagnosed in a family where both patients were adults. A 59 year old man developed seizures 4 years prior to our evaluation of him, at which time imaging showed a hypothalamic hamartoma. The seizures were controlled medically. He did well until he had visual changes after a traumatic head injury. Repeat MRI showed slight expansion of the mass with formal visual field testing demonstrating bitemporal hemianopsia. There was no evidence of pituitary dysfunction except for large urine volume. He underwent surgery to debulk the hamartoma and the visual field defects improved. There was no hypopituitarism post-operatively, and the polydyspia resolved. His 29 year old daughter also had seizures and hypothalamic hamartoma. Both patients had had polydactyly with prior surgical correction in childhood. The daughter underwent genetic testing, which revealed a previously undescribed heterozygous single base pair deletion in exon 13 of the GLI3 gene causing a frameshift mutation. Further investigation into family history revealed multiple members in previous generations with polydactyly and/or seizures. Pallister-Hall syndrome is caused by an inherited autosomal dominant or de novo mutation in GLI3 gene. This rare syndrome has not had prevalence defined, however. Generally, diagnoses are made in the pediatric population. Our report adds to the few cases detected in adulthood.

  9. Genome-wide analyses of the bZIP family reveal their involvement in the development, ripening and abiotic stress response in banana

    PubMed Central

    Hu, Wei; Wang, Lianzhe; Tie, Weiwei; Yan, Yan; Ding, Zehong; Liu, Juhua; Li, Meiying; Peng, Ming; Xu, Biyu; Jin, Zhiqiang

    2016-01-01

    The leucine zipper (bZIP) transcription factors play important roles in multiple biological processes. However, less information is available regarding the bZIP family in the important fruit crop banana. In this study, 121 bZIP transcription factor genes were identified in the banana genome. Phylogenetic analysis showed that MabZIPs were classified into 11 subfamilies. The majority of MabZIP genes in the same subfamily shared similar gene structures and conserved motifs. The comprehensive transcriptome analysis of two banana genotypes revealed the differential expression patterns of MabZIP genes in different organs, in various stages of fruit development and ripening, and in responses to abiotic stresses, including drought, cold, and salt. Interaction networks and co-expression assays showed that group A MabZIP-mediated networks participated in various stress signaling, which was strongly activated in Musa ABB Pisang Awak. This study provided new insights into the complicated transcriptional control of MabZIP genes and provided robust tissue-specific, development-dependent, and abiotic stress-responsive candidate MabZIP genes for potential applications in the genetic improvement of banana cultivars. PMID:27445085

  10. When Values and Behaviors Conflict: Immigrant BSW Students' Experiences Revealed

    ERIC Educational Resources Information Center

    Calderwood, Kimberly; Harper, Kim; Ball, Kellie; Liang, David

    2009-01-01

    This qualitative study reveals the discomfort seven immigrant bachelor of social work students reported experiencing when the behaviors expected of them as Canadian social workers conflicted with their fundamental family values. Behaviorally, participants had assimilated to Canadian and to social work cultures; however, the values they held from…

  11. Novel GABRG2 mutations cause familial febrile seizures

    PubMed Central

    Boillot, Morgane; Morin-Brureau, Mélanie; Picard, Fabienne; Weckhuysen, Sarah; Lambrecq, Virginie; Minetti, Carlo; Striano, Pasquale; Zara, Federico; Iacomino, Michele; Ishida, Saeko; An-Gourfinkel, Isabelle; Daniau, Mailys; Hardies, Katia; Baulac, Michel; Dulac, Olivier; Leguern, Eric; Nabbout, Rima

    2015-01-01

    Objective: To identify the genetic cause in a large family with febrile seizures (FS) and temporal lobe epilepsy (TLE) and subsequently search for additional mutations in a cohort of 107 families with FS, with or without epilepsy. Methods: The cohort consisted of 1 large family with FS and TLE, 64 smaller French families recruited through a national French campaign, and 43 Italian families. Molecular analyses consisted of whole-exome sequencing and mutational screening. Results: Exome sequencing revealed a p.Glu402fs*3 mutation in the γ2 subunit of the GABAA receptor gene (GABRG2) in the large family with FS and TLE. Three additional nonsense and frameshift GABRG2 mutations (p.Arg136*, p.Val462fs*33, and p.Pro59fs*12), 1 missense mutation (p.Met199Val), and 1 exonic deletion were subsequently identified in 5 families of the follow-up cohort. Conclusions: We report GABRG2 mutations in 5.6% (6/108) of families with FS, with or without associated epilepsy. This study provides evidence that GABRG2 mutations are linked to the FS phenotype, rather than epilepsy, and that loss-of-function of GABAA receptor γ2 subunit is the probable underlying pathogenic mechanism. PMID:27066572

  12. A review of family meal influence on adolescents' dietary intake.

    PubMed

    Woodruff, Sarah J; Hanning, Rhona M

    2008-01-01

    Recent concerns about adolescent nutrition and unhealthy weights have prompted an examination of the myriad influences on dietary intake during adolescence. Included here are a summary of the literature on family influence on dietary intake, specifically during adolescence and within the family context, a summary of family meal patterns, and a systematic review of the known influences of family meals on dietary intake. Because of the complexity of families in today's society, models were developed to depict the broad context of familial influences on adolescent nutritional behaviours and attitudes and to describe what is known and not known about family meal influences on adolescent dietary intake and quality. A systematic review of the literature revealed seven articles specifically related to adolescents, family meals, and dietary intake, which were analyzed for strength of evidence and plausibility. In spite of data collection methods relying on self-report, results suggested that family meals were associated with improved dietary intakes. Families in today's societies are complex. Nevertheless, parents have the potential to influence positively, through family meals, what food is provided, where it is provided (e.g., home, restaurant), and within what type of atmosphere it is provided.

  13. The Family as a Place of Education. between a School-Centred Focus on Education and Family Needs

    ERIC Educational Resources Information Center

    Loch, Ulrike

    2016-01-01

    The results of PISA studies over recent years have revealed the social selectivity of the scholastic education system. Based on my empirical research on families with mentally ill parents, I show how, for the children involved, social exclusion begins before they even start school. I also show how parents' mental illness is seen to affect…

  14. Routines of families with adolescents with autistic disorders: a comparison study.

    PubMed

    Bagatell, Nancy J; Cram, Megan; Alvarez, Christian G; Loehle, Laura

    2014-02-01

    Research has consistently shown that families with children with autism spectrum disorders (ASD) have difficulty engaging in family routines, yet little is known about families with adolescents with ASD. The purpose of this study is to compare the routines of families with adolescents with ASD (FASD) and families with typically developing adolescents. Twenty families in each group were compared using the Family Routines Inventory and supplemental questions. Data were analyzed using a Mann-Whitney U and content analysis. No significant difference between groups was found; however, there was a trending toward significance in the subscale of mealtime routines in both endorsement and adherence. Analysis of open-ended questions revealed differences in how routines were carried out. Occupational therapists should consider assessing and addressing routines of importance to FASD to increase family health and well-being. Further research is needed to better understand the routines of FASD.

  15. Family structure and dynamics in DePalma's horror films.

    PubMed

    Gordon, N G

    1983-01-01

    An analysis of the familial relationships in Brian DePalma's five major horror films reveals a persistent unconscious fantasy formation involving the nuclear family. These single-parent, only-child families are all tragically destroyed because of an inability to adequately mourn the absent parent. Although the asexual young adults in the films are spared the completely disastrous effects of madness and violence, they are still psychologically traumatized. This hidden subtextual theme involving the family parallels DePalma's bleak view of authority figures outside the home, as well as American society in general. Adequate identity formation requires that people both inside and outside the family accept the adolescent as a separate person. The grim psychological truth threading its way throughout DePalma's horror films is that these young adults are psychically devastated by the effects of a primitive, fused symbiotic relationship in interaction with a society that does not provide an adequate role for the developing person. Consequently, their attempt to psychologically move outside the family, which includes the maturation of their sexuality, results in the destruction of the family itself.

  16. Women and children last: the poverty and marginalization of one-parent families.

    PubMed

    Winchester, H P

    1990-01-01

    The spatial distribution and socioeconomic status of one-parent families in Great Britain and Australia are described, and reasons for the increase in this type of family are analyzed. The author finds that "one-parent families, largely composed of women and children, constitute one of the most rapidly-growing family types. Evidence from Britain and Australia reveals their extreme marginalization in the labour market, and their concentration into public housing. These problems are related to patriarchal structures within society, particularly the expectations of traditional gender roles and the segregation of women's job opportunities." excerpt

  17. Using family and staff experiences of a botulinum toxin-A service to improve service quality.

    PubMed

    Burton, K L O; Bau, K; Lewis, J; Aroyan, K R; Botha, B; Botman, A G M; Stewart, K; Waugh, M-C A; Paget, S P

    2017-11-01

    The decision for families to proceed with botulinum toxin-A (BoNT-A) injections for managing childhood conditions involving hypertonia can be complex. Family-centred care is a service model that facilitates supporting families in this decision-making process. Understanding families' experiences of services is critical to developing family-centred care. The aim of this project was therefore to increase understanding of the experiences of families of children attending a BoNT-A service in order to improve the service and its family-centred approach to care. Sixteen staff of a BoNT-A service participated in a patient journey mapping exercise. Nine families of the service participated in in-depth interviews. Interviews were audio-recorded and transcribed verbatim. Data from the staff session and interviews were analysed independently using grounded, hermeneutic thematic analysis. Staff sessions revealed 5 core themes that related to impacting on the family experience. Family interviews revealed 4 core themes, with 7 subthemes and 1 latent theme. Areas of importance identified by families relating to BoNT-A treatment included acknowledgement of individual needs, care coordination, empowerment of families and patients, consistency in service delivery, and the distressing nature of appointment and decision-making. Comparison of the data from the staff patient journey mapping and family interviews suggested that staff have a good but incomplete understanding of the factors important to families, highlighting the need for consumer engagement in establishing family-centred care. The themes identified can guide the provision of family-centred BoNT-A injection clinics. © 2017 John Wiley & Sons Ltd.

  18. (Re)Examining the Role of Family and Community in College Access and Choice: A Metasynthesis

    ERIC Educational Resources Information Center

    Mwangi, Chrystal A. George

    2015-01-01

    Using meta-synthesis, this study analyzes higher education literature to provide a comprehensive understanding of the role of nonparent family and community (NPFC) members such as siblings, extended family, fictive kin, and peers in college access and choice. Findings revealed the diverse familial and community networks of today's college going…

  19. Kenya's Maternal Child Health Family Planning Program (Family Health).

    PubMed

    Kiereini, E M

    1982-01-01

    In an attempt to improve accessibility to health care for the majority of its population, the government of Kenya has, since 1970, undertaken an integration of its dispersed health care system. In 1972 the Ministry of Health carried out a study to identify the problems associated with health care in rural areas. A task force consisting of government and other officials carried out a situation analysis with a view to making specific recommendations for improving community health status. The 4 main health problems identified had to do with family health problems, communicable diseases, diseases related to poor environmental sanitation, and health problems related to poor nutrition. The analysis also revealed the importance of maternal and child health for overall health of the community. A Maternal Child Health Family Planning (MCH/FP) program was then designed to improve services to women aged 15-49 years and children below 5 years, the groups proven to be at greatest risk for ill health. Also integrated into this approach were family planning services. Health workers ranging from enrolled community nurses (equipped with knowledge and skills for diagnosing and treating common conditions) to traditional birth attendants, serve both rural and urban areas. In addition, registered public health nurses, supervising MCH/FP services in district facilities, also operate in urban areas. Rural populations also have the services of a clinical officer who is answerable to the district medical officer, and who has charge of the health center. The Family Health Field Educators Training Program, which was started in 1975 has not yet been evaluated, but it is evident that the efforts of the government to train and equip health workers has greatly improved the quality and availability of health care service to Kenyans.

  20. Use of Standardized Assessment Instruments by Marital and Family Therapists: A Survey.

    ERIC Educational Resources Information Center

    Boughner, Shelly R.; And Others

    1994-01-01

    Surveyed 598 marriage/family practitioners to examine use of standardized assessment instruments in practice. Responses from 188 clinicians who reported use of tests revealed that 147 different standardized tests were used in marriage and family therapy practice. Test use was most frequent for treatment planning purposes, except in premarital area…

  1. Men, Sex and Money in Recent Family Melodramas.

    ERIC Educational Resources Information Center

    Seiter, Ellen

    1983-01-01

    Today's melodramas reveal significant trends in terms of gender, class, and the nature of tribulations. This article surveys the dominant features of family melodramas including soap operas, prime time serials such as "Dallas" and "Dynasty," and theatrical feature films. (PD)

  2. Work-family conflict and employee psychiatric disorders: the National Comorbidity Survey.

    PubMed

    Frone, M R

    2000-12-01

    This study examined the relation between work-family conflict and several types of psychiatric disorders: mood, anxiety, substance dependence, and substance abuse. Survey data were obtained from a representative national sample of 2,700 employed adults who were either married or the parent of a child 18 years old or younger. Hierarchical logistic regression analyses revealed that both work-to-family and family-to-work conflict were positively related to having a mood, anxiety, and substance dependence disorder. Depending on the type of work-family conflict and type of disorder, employees who reported experiencing work-family conflict often were 1.99-29.66 times more likely than were employees who reported no work-family conflict to experience a clinically significant mental health problem. No support was found for gender differences.

  3. Rare combination of familial adenomatous polyposis and gallbladder polyps.

    PubMed

    Mori, Yasuhisa; Sato, Norihiro; Matayoshi, Nobutaka; Tamura, Toshihisa; Minagawa, Noritaka; Shibao, Kazunori; Higure, Aiichiro; Nakamoto, Mitsuhiro; Taguchi, Masashi; Yamaguchi, Koji

    2014-12-14

    Familial adenomatous polyposis is associated with a high incidence of malignancies in the upper gastrointestinal tract (particularly ampullary adenocarcinomas). However, few reports have described a correlation between familial adenomatous polyposis and gallbladder neoplasms. We present a case of a 60-year-old woman with familial adenomatous polyposis who presented with an elevated mass in the neck of the gallbladder (measuring 16 mm × 8 mm in diameter) and multiple small cholecystic polyps. She had undergone a total colectomy for ascending colon cancer associated with familial adenomatous polyposis 22 years previously. The patient underwent laparoscopic cholecystectomy under a preoperative diagnosis of multifocal gallbladder polyps. Pathologic examination of the resected gallbladder revealed more than 70 adenomatous lesions, a feature consistent with adenoma of the gallbladder. This case suggests a requirement for long-term surveillance of the biliary system in addition to the gastrointestinal tract in patients with familial adenomatous polyposis.

  4. "American" or "Multiethnic"? Family Ethnic Identity Among Transracial Adoptive Families, Ethnic-Racial Socialization, and Children's Self-Perception.

    PubMed

    Pinderhughes, Ellen E; Zhang, Xian; Agerbak, Susanne

    2015-12-01

    Drawing on a model of ethnic-racial socialization (E-RS; Pinderhughes, 2013), this study examined hypothesized relations among parents' role variables (family ethnic identity and acknowledgment of cultural and racial differences), cultural socialization (CS) behaviors, and children's self-perceptions (ethnic self-label and feelings about self-label). The sample comprised 44 U.S.-based parents and their daughters ages 6 to 9 who were adopted from China. Correlation analyses revealed that parents' role variables and CS behaviors were related, and children's ethnic self-label was related to family ethnic identity and CS behaviors. Qualitative analyses point to complexities in children's ethnic identity and between family and children's ethnic identities. Together, these findings provide support for the theoretical model and suggest that although ethnic identity among international transracial adoptees (ITRAs) has similarities to that of nonadopted ethnic minority children, their internal experiences are more complex. © 2015 Wiley Periodicals, Inc.

  5. [Dysfunctional family in the context of alcoholism: concept analysis].

    PubMed

    Mangueira, Suzana de Oliveira; Lopes, Marcos Venícios de Oliveira

    2014-01-01

    Alcoholism is considered an associated factor to the family dysfunction, revealing the need for health professionals to overcome the purely individual perspective to offer a systemic focus. The aim of this study was to analyze the concept dysfunctional family in the context of alcoholism. The study followed the Concept Analysis Model and steps of integrative literature review. It was identifi ed the antecedents of alcoholism, the attributes and the consequent dysfunctional family and it was reported a model case which illustrated the presence of these elements. It was observed that this is a broad concept, subjective and complex, with emphasis on studies on the consequents related to children of alcoholics.

  6. Relationships between job satisfaction, intentions to leave family practice and actually leaving among family physicians in England.

    PubMed

    Hann, Mark; Reeves, David; Sibbald, Bonnie

    2011-08-01

    A national survey of family physicians working in the National Health Service (NHS) of England in 2001 revealed that 1/10 under 50 years of age were intending to leave direct patient care within 5 years, and that the principal predictor of their intention to leave was job satisfaction. Our research addressed two questions. First, does a family physician's stated intention to leave their job predict whether or not they actually do leave? Second, to what extent does job satisfaction predict actually leaving? Secondary data analysis was performed on 1174 family physicians aged 50 years and under, who responded to the aforementioned survey. Using data from the annual census of physicians in the NHS, we determined which physicians actually left family practice during the next 5 years. Of the 1174 family physicians studied, 194 (16.5%) had left direct patient care within 5 years. Multivariate regression showed that job satisfaction predicted a physician's intention to leave direct patient care and that intention to leave predicted actually leaving. Logically, job satisfaction should then have predicted actual leaving. Our findings, however, suggest that this is only partly true. Although higher levels of job 'dissatisfaction' were associated with an increased likelihood of leaving, higher levels of job 'satisfaction' did not prevent leaving.

  7. Grandmothers Raising Grandchildren with Disabilities: Sources of Support and Family Quality of Life

    ERIC Educational Resources Information Center

    Kresak, Karen E.; Gallagher, Peggy A.; Kelley, Susan J.

    2014-01-01

    Sources of support and quality of life of 50 grandmother-headed families raising grandchildren with and without disabilities were examined. Comparative analyses revealed significant differences between grandmothers raising grandchildren with and without disabilities in regard to sources of support and family quality of life. Informal support was…

  8. Genome-wide analysis of the AP2/ERF family in Musa species reveals divergence and neofunctionalisation during evolution

    PubMed Central

    Lakhwani, Deepika; Pandey, Ashutosh; Dhar, Yogeshwar Vikram; Bag, Sumit Kumar; Trivedi, Prabodh Kumar; Asif, Mehar Hasan

    2016-01-01

    AP2/ERF domain containing transcription factor super family is one of the important regulators in the plant kingdom. The involvement of AP2/ERF family members has been elucidated in various processes associated with plant growth, development as well as in response to hormones, biotic and abiotic stresses. In this study, we carried out genome-wide analysis to identify members of AP2/ERF family in Musa acuminata (A genome) and Musa balbisiana (B genome) and changes leading to neofunctionalisation of genes. Analysis identified 265 and 318 AP2/ERF encoding genes in M. acuminata and M. balbisiana respectively which were further classified into ERF, DREB, AP2, RAV and Soloist groups. Comparative analysis indicated that AP2/ERF family has undergone duplication, loss and divergence during evolution and speciation of the Musa A and B genomes. We identified nine genes which are up-regulated during fruit ripening and might be components of the regulatory machinery operating during ethylene-dependent ripening in banana. Tissue-specific expression analysis of the genes suggests that different regulatory mechanisms might be involved in peel and pulp ripening process through recruiting specific ERFs in these tissues. Analysis also suggests that MaRAV-6 and MaERF026 have structurally diverged from their M. balbisiana counterparts and have attained new functions during ripening. PMID:26733055

  9. Genome-wide analysis of the AP2/ERF family in Musa species reveals divergence and neofunctionalisation during evolution.

    PubMed

    Lakhwani, Deepika; Pandey, Ashutosh; Dhar, Yogeshwar Vikram; Bag, Sumit Kumar; Trivedi, Prabodh Kumar; Asif, Mehar Hasan

    2016-01-06

    AP2/ERF domain containing transcription factor super family is one of the important regulators in the plant kingdom. The involvement of AP2/ERF family members has been elucidated in various processes associated with plant growth, development as well as in response to hormones, biotic and abiotic stresses. In this study, we carried out genome-wide analysis to identify members of AP2/ERF family in Musa acuminata (A genome) and Musa balbisiana (B genome) and changes leading to neofunctionalisation of genes. Analysis identified 265 and 318 AP2/ERF encoding genes in M. acuminata and M. balbisiana respectively which were further classified into ERF, DREB, AP2, RAV and Soloist groups. Comparative analysis indicated that AP2/ERF family has undergone duplication, loss and divergence during evolution and speciation of the Musa A and B genomes. We identified nine genes which are up-regulated during fruit ripening and might be components of the regulatory machinery operating during ethylene-dependent ripening in banana. Tissue-specific expression analysis of the genes suggests that different regulatory mechanisms might be involved in peel and pulp ripening process through recruiting specific ERFs in these tissues. Analysis also suggests that MaRAV-6 and MaERF026 have structurally diverged from their M. balbisiana counterparts and have attained new functions during ripening.

  10. Opportunities for medical student engagement with family medicine.

    PubMed

    Heidelbaugh, Joel; Cooke, James; Wimsatt, Leslie

    2013-01-01

    Several factors have been linked to the decline in medical student choice of a career in primary care (eg, gender, race, family income, student debt), yet understanding remains limited regarding the availability of curricular and co-curricular experiences for medical students within family medicine that may play a role, particularly one-on-one opportunities such as faculty mentoring and advising. Our study sought to collect baseline data on family medicine learning experiences during predoctoral training. An online 21-question survey was sent to family medicine departments at US allopathic medical schools between January and March 2012 (84.6% response rate) to capture institutional representation and experiences within family medicine. Most institutions reported offering family medicine interest groups (98.1%), electives (97.1%), and clerkships (90.4%). Career advising as an elective course component was available at 53.8% of schools and as part of a required course at 46.2%. Comparison of public versus private institutions revealed differences in rural medicine experiences, admissions preferences, and residency director involvement in hands-on and small- group teaching. Additional differences were noted by total enrollment, number of family medicine faculty in senior leadership positions, and proportion of full-time clinical faculty teaching family medicine. Availability of family medicine curricular programming, formal advising/mentoring opportunities, and full-time faculty as teachers and senior administrators differed across various characteristics of medical schools. Results can be used to direct future research on medical student engagement with family medicine educational experiences relative to recruitment.

  11. Air Force family nurse practitioner and family physician perception of the family nurse practitioner role in military operations other than war.

    PubMed

    Houlihan, S A

    2001-09-01

    The inevitable result of changing world events and defense requirements is that the family nurse practitioner (FNP) will take on a more active role in the deployed setting, especially in military operations other than war. What is the perception of the FNP and family physician of the role of the FNP in these missions? Because of the collaborative role between these two provider groups, it is important to compare these perceptions to ensure quality collaborative care. Respondents were requested to rate their perceptions regarding the ability of the FNP to treat 65 categories of patients. Analysis revealed that there was a significant difference among the providers concerning the FNP role. Several perceived barriers were also identified. Because of this difference, the FNP may not be fully utilized. In addition, this study provides insight regarding the training needs perceived to adequately prepare FNPs for their deployment role.

  12. Female children with incarcerated adult family members at risk for lifelong neurological decline.

    PubMed

    Brewer-Smyth, Kathleen; Pohlig, Ryan T; Bucurescu, Gabriel

    2016-07-01

    A secondary analysis of data from adult female prison inmates in the mid-Atlantic United States defined relationships between having incarcerated adult family members during childhood and neurological outcomes. Of 135 inmates, 99 (60%) had one or more incarcerated adult family members during childhood. Regression analyses revealed that having incarcerated adult family members was related to greater frequency and severity of childhood abuse and higher incidence of neurological deficits in adulthood, especially related to traumatic brain injuries, compared to those without incarcerated adult family members. Along with being role models, adult family members impact the neurological health of children throughout their life-span.

  13. Importance of updating family cancer history in childhood cancer survivors.

    PubMed

    Russo, Selena; Warby, Meera; Tucker, Katherine M; Wakefield, Claire E; Cohn, Richard J

    2017-10-01

    Estimates of the number of childhood cancers with a genetic basis range from 5-8.5% found in germline samples to 29% based on clinical criteria. Family history-taking practice is a fundamental first step in detecting at risk individuals and families. This study focused on Li-Fraumeni Syndrome (LFS), a highly penetrant cancer syndrome. Reported family history in a cohort of 648 of cancer survivor cohort (CCS) was examined. Eligible CCS were: (i) aged up to 14 years at diagnosis; (ii) more than 5 years postdiagnosis; (iii) treated for a childhood cancer at the study hospitals in NSW, Australia; (iv) in remission for more than 3 years. CCS completed self-administered questionnaires. Medical records confirmed diagnosis and treatment-related information. Our findings reveal an increased cancer risk among sibling and relatives of CCS. 91% of siblings diagnosed with cancer were diagnosed under the age of 40 and about 30% diagnosed under the aged of 15 revealing a 5- (RR = 5.1; 95% CI, 3.3-7.9) and 44-fold (RR = 44.6; 95% CI, 18.4-108.3) increased risked of cancer compared with the Australian population, respectively. About 2% of CCS reported that they had been diagnosed with a genetic cancer syndrome. However, 11% of survivors described a family history pattern which met Chompret criteria for screening for TP53 mutations associated with LFS. Our data suggests that familial cancer predispositions may be initially overlooked. Aperiodic and accurate ascertainment of family cancer history of childhood cancer patients and survivors is therefore recommended.

  14. Structural characterization of Helicobacter pylori dethiobiotin synthetase reveals differences between family members

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Porebski, Przemyslaw J.; Klimecka, Maria; Chruszcz, Maksymilian

    2012-07-11

    Dethiobiotin synthetase (DTBS) is involved in the biosynthesis of biotin in bacteria, fungi, and plants. As humans lack this pathway, DTBS is a promising antimicrobial drug target. We determined structures of DTBS from Helicobacter pylori (hpDTBS) bound with cofactors and a substrate analog, and described its unique characteristics relative to other DTBS proteins. Comparison with bacterial DTBS orthologs revealed considerable structural differences in nucleotide recognition. The C-terminal region of DTBS proteins, which contains two nucleotide-recognition motifs, differs greatly among DTBS proteins from different species. The structure of hpDTBS revealed that this protein is unique and does not contain a C-terminalmore » region containing one of the motifs. The single nucleotide-binding motif in hpDTBS is similar to its counterpart in GTPases; however, isothermal titration calorimetry binding studies showed that hpDTBS has a strong preference for ATP. The structural determinants of ATP specificity were assessed with X-ray crystallographic studies of hpDTBS-ATP and hpDTBS-GTP complexes. The unique mode of nucleotide recognition in hpDTBS makes this protein a good target for H. pylori-specific inhibitors of the biotin synthesis pathway.« less

  15. Assessing play-based activities, child talk, and single session outcome in family therapy with young children.

    PubMed

    Willis, Amber B; Walters, Lynda H; Crane, D Russell

    2014-07-01

    This exploratory, observational study was designed to reveal descriptive information regarding therapists' actual practices with preschool- and school-aged children in a single session of family therapy and to investigate change mechanisms in family play therapy that have been proposed to make this approach effective. A purposive sample of 30 families receiving family therapy was recruited and video-taped during a family session where at least one child between the ages of 4 and 12 was present. Following the session, the therapist and parent(s) completed questionnaires while one of the children (aged 4-12) was interviewed. Session recordings were coded, minute-by-minute, for participant talk time, visual aids or props used, and therapy technique type (e.g., play-based/activity vs. talk-only techniques). Hierarchical regression and canonical correlational analyses revealed evidence supporting the theory that play-based techniques promote young children's participation, enhance the quality of the child-therapist relationship, and build positive emotional experiences in family therapy. © 2013 American Association for Marriage and Family Therapy.

  16. Non-monophyly and intricate morphological evolution within the avian family Cettiidae revealed by multilocus analysis of a taxonomically densely sampled dataset

    PubMed Central

    2011-01-01

    Background The avian family Cettiidae, including the genera Cettia, Urosphena, Tesia, Abroscopus and Tickellia and Orthotomus cucullatus, has recently been proposed based on analysis of a small number of loci and species. The close relationship of most of these taxa was unexpected, and called for a comprehensive study based on multiple loci and dense taxon sampling. In the present study, we infer the relationships of all except one of the species in this family using one mitochondrial and three nuclear loci. We use traditional gene tree methods (Bayesian inference, maximum likelihood bootstrapping, parsimony bootstrapping), as well as a recently developed Bayesian species tree approach (*BEAST) that accounts for lineage sorting processes that might produce discordance between gene trees. We also analyse mitochondrial DNA for a larger sample, comprising multiple individuals and a large number of subspecies of polytypic species. Results There are many topological incongruences among the single-locus trees, although none of these is strongly supported. The multi-locus tree inferred using concatenated sequences and the species tree agree well with each other, and are overall well resolved and well supported by the data. The main discrepancy between these trees concerns the most basal split. Both methods infer the genus Cettia to be highly non-monophyletic, as it is scattered across the entire family tree. Deep intraspecific divergences are revealed, and one or two species and one subspecies are inferred to be non-monophyletic (differences between methods). Conclusions The molecular phylogeny presented here is strongly inconsistent with the traditional, morphology-based classification. The remarkably high degree of non-monophyly in the genus Cettia is likely to be one of the most extraordinary examples of misconceived relationships in an avian genus. The phylogeny suggests instances of parallel evolution, as well as highly unequal rates of morphological divergence in

  17. Molecular characterization and distribution of a 145-bp tandem repeat family in the genus Populus.

    PubMed

    Rajagopal, J; Das, S; Khurana, D K; Srivastava, P S; Lakshmikumaran, M

    1999-10-01

    This report aims to describe the identification and molecular characterization of a 145-bp tandem repeat family that accounts for nearly 1.5% of the Populus genome. Three members of this repeat family were cloned and sequenced from Populus deltoides and P. ciliata. The dimers of the repeat were sequenced in order to confirm the head-to-tail organization of the repeat. Hybridization-based analysis using the 145-bp tandem repeat as a probe on genomic DNA gave rise to ladder patterns which were identified to be a result of methylation and (or) sequence heterogeneity. Analysis of the methylation pattern of the repeat family using methylation-sensitive isoschizomers revealed variable methylation of the C residues and lack of methylation of the A residues. Sequence comparisons between the monomers revealed a high degree of sequence divergence that ranged between 6% and 11% in P. deltoides and between 4.2% and 8.3% in P. ciliata. This indicated the presence of sub-families within the 145-bp tandem family of repeats. Divergence was mainly due to the accumulation of point mutations and was concentrated in the central region of the repeat. The 145-bp tandem repeat family did not show significant homology to known tandem repeats from plants. A short stretch of 36 bp was found to show homology of 66.7% to a centromeric repeat from Chironomus plumosus. Dot-blot analysis and Southern hybridization data revealed the presence of the repeat family in 13 of the 14 Populus species examined. The absence of the 145-bp repeat from P. euphratica suggested that this species is relatively distant from other members of the genus, which correlates with taxonomic classifications. The widespread occurrence of the tandem family in the genus indicated that this family may be of ancient origin.

  18. Hereditary family signature of facial expression

    PubMed Central

    Peleg, Gili; Katzir, Gadi; Peleg, Ofer; Kamara, Michal; Brodsky, Leonid; Hel-Or, Hagit; Keren, Daniel; Nevo, Eviatar

    2006-01-01

    Although facial expressions of emotion are universal, individual differences create a facial expression “signature” for each person; but, is there a unique family facial expression signature? Only a few family studies on the heredity of facial expressions have been performed, none of which compared the gestalt of movements in various emotional states; they compared only a few movements in one or two emotional states. No studies, to our knowledge, have compared movements of congenitally blind subjects with their relatives to our knowledge. Using two types of analyses, we show a correlation between movements of congenitally blind subjects with those of their relatives in think-concentrate, sadness, anger, disgust, joy, and surprise and provide evidence for a unique family facial expression signature. In the analysis “in-out family test,” a particular movement was compared each time across subjects. Results show that the frequency of occurrence of a movement of a congenitally blind subject in his family is significantly higher than that outside of his family in think-concentrate, sadness, and anger. In the analysis “the classification test,” in which congenitally blind subjects were classified to their families according to the gestalt of movements, results show 80% correct classification over the entire interview and 75% in anger. Analysis of the movements' frequencies in anger revealed a correlation between the movements' frequencies of congenitally blind individuals and those of their relatives. This study anticipates discovering genes that influence facial expressions, understanding their evolutionary significance, and elucidating repair mechanisms for syndromes lacking facial expression, such as autism. PMID:17043232

  19. Interrelations between siblings and parents in families living with children with cancer.

    PubMed

    Kobayashi, Kyoko; Hayakawa, Akira; Hohashi, Naohiro

    2015-02-01

    Having a child diagnosed with cancer is a stressful event for the family. This exploratory multimethod study utilized both quantitative and qualitative multiinformant methodologies to investigate the relationships between parental family functioning and siblings' health-related quality of life (HRQOL) and to describe interrelations between the experiences of parents and siblings of children with childhood cancer. A total of 14 Japanese families participated in the quantitative study, and 4 families of the 14 participated in the qualitative study. In-depth, semistructured interviews revealed three family-unit stages during the time course of the ill child's treatment that included particular parent-sibling interrelations. We also found strong correlation between parental family functioning and siblings' HRQOL in the quantitative study. The results suggest the importance of family nursing interventions directed to individual family members and the family unit that focus on strengthening the parent-sibling relationship and supporting families who are experiencing childhood cancer. © The Author(s) 2014.

  20. Work and nonwork outcomes of workplace incivility: Does family support help?

    PubMed

    Lim, Sandy; Lee, Alexia

    2011-01-01

    This study extended incivility research beyond the confines of the workplace by exploring the relationships between incivility, work-to-family conflict and family support. Data collected from 180 employees from various organizations in Singapore showed that incivility is not a rare phenomenon in Asian cultures. Employees experienced more incivility from superiors than coworkers or subordinates, and these experiences were related to different outcomes. Coworker-initiated incivility was associated with decreased coworker satisfaction, increased perceptions of unfair treatment, and increased depression. On the other hand, superior-initiated incivility was associated with decreased supervisor satisfaction and increased work-to-family conflict. Results also revealed that employees with high family support showed stronger relationships between workplace incivility and negative outcomes, compared with employees with low family support.

  1. Predictors of survival among hemodialysis patients: effect of perceived family support.

    PubMed

    Christensen, A J; Wiebe, J S; Smith, T W; Turner, C W

    1994-11-01

    The authors examined the role of perceived family support and symptoms of depression as predictors of survival in a sample of 78 in-center hemodialysis patients. Cox regression analysis revealed significant effects for family support (p < .005), blood urea nitrogen (p < .01), and age (p < .005). The effect for depression was not significant. The Cox model indicated that a 1-point increase on the family support measure was associated with a 13% reduction in the hazard rate (i.e., mortality). Estimated 5-year mortality rates among low family support patients were approximately 3 times higher than estimated mortality for high support patients. Differences in patient adherence to the dietary and medication regimens failed to explain the significant effect of family support.

  2. Most important needs of family members of critical patients in light of the critical care family needs inventory.

    PubMed

    Padilla Fortunatti, Cristóbal Felipe

    2014-01-01

    This work sought to identify the most important needs for family members of adult critical patients as described in the literature pursuant to the dimensions established in the "Critical Care Family Needs Inventory" (CCFNI) by Molter and Leske. A literature review was carried out by using the CCFNI instrument. The databases used were: Pubmed, CINAHL, Proquest Nursing & Allied Health Source, Proquest Psychology Journals, LILACS, Science Direct, Ovid SP, PsyicINFO, and SciELO. The following limitations for the search were identified: adult patients, articles in English and Spanish, with abstract and complete text available and which had been published from 2003 to June 2013; 15 articles were included. The family's hope on desired results and sincere communication with the healthcare staff turned out to be the most relevant needs, while the least important were related to comfort and having support structures or systems. Most of the studies were conducted in Asia and North America revealing differences in the order of importance assigned to each necessity. Certain sociodemographic and cultural characteristics impact upon how family members rank their needs; this also occurs with the nature of the most important needs for the family and the factors determining their prioritization. The articles included in this review mention the frequent interaction with the family and their holistic view of the person beyond the illness, determine that nurses are the most appropriate professionals to know and satisfy the family needs of critical patients.

  3. When can employees have a family life? The effects of daily workload and affect on work-family conflict and social behaviors at home.

    PubMed

    Ilies, Remus; Schwind, Kelly M; Wagner, David T; Johnson, Michael D; DeRue, D Scott; Ilgen, Daniel R

    2007-09-01

    This article presents a longitudinal examination of antecedents and outcomes of work-to-family conflict. A total of 106 employees participating in an experience-sampling study were asked to respond to daily surveys both at work and at home, and their spouses were interviewed daily via telephone for a period of 2 weeks. Intraindividual analyses revealed that employees' perceptions of workload predicted work-to-family conflict over time, even when controlling for the number of hours spent at work. Workload also influenced affect at work, which in turn influenced affect at home. Finally, perhaps the most interesting finding in this study was that employees' behaviors in the family domain (reported by spouses) were predicted by the employees' perceptions of work-to-family conflict and their positive affect at home. (c) 2007 APA.

  4. Ethnic Variations in the Connection between Work-Induced Family Separation and Turnover Intent

    ERIC Educational Resources Information Center

    Behnke, Andrew O.; MacDermid, Shelley M.; Anderson, James C.; Weiss, Howard M.

    2010-01-01

    Using conservation of resources theory, this study examines the role of resources in the relationship between work-induced family separation and workers' intentions to leave their employment and how these relationships vary across ethnic groups. Analyses of a large representative sample of military members reveal that family separation is…

  5. Who counts as family? Family typologies, family support, and family undermining among young adult gay and bisexual men.

    PubMed

    Soler, Jorge H; Caldwell, Cleopatra H; Córdova, David; Harper, Gary; Bauermeister, José A

    2018-06-01

    Gay and bisexual men may form chosen families in addition to or in place of families of origin. However, the characteristics of these diverse families remain largely unexamined in the quantitative literature. The purpose of this study was to develop a family typology based on responses from a racially and ethnically diverse sample of young adult gay and bisexual men (YGBM) recruited from the Detroit Metropolitan Area (N=350; 18-29 years old). To explore the role of family, we then examined family social support and social undermining in relation to YGBM psychological distress within different family types. A series of multivariate regressions were used to examine associations between family social support and social undermining with depression and anxiety outcomes. The majority (88%) of YGBM included family of origin in their definitions of family and 63% indicated having chosen families. Associations between family social processes and psychological outcomes varied by type of family, suggesting that family composition shapes how perceptions of support and undermining relate to experiencing symptoms of depression and anxiety. Chosen families play a prominent role in the lives of YGBM and should not be overlooked in family research. Findings also highlight the importance of examining co-occurring family social support and social stress processes to further address psychological distress symptoms among YGBM.

  6. How Older Adults and Their Families Perceive Family Talk about Aging-Related EOL Issues: A Dialectical Analysis.

    PubMed

    Egbert, Nichole; Child, Jeffrey T; Lin, Mei-Chen; Savery, Carol; Bosley, Tammy

    2017-04-17

    For older adults, approaching end-of-life (EOL) brings unique transitions related to family relationships. Unfortunately, most families greatly underestimate the need to discuss these difficult issues. For example, parents approaching EOL issues often struggle with receiving assistance from others, avoiding family conflict, and maintaining their sense of personhood. In addition, discussions of EOL issues force family members to face their parents' mortality, which can be particularly difficult for adult children to process emotionally. This study explored aging issues identified by aging parents and their families as they traverse these impending EOL changes. Ten focus groups of seniors ( n = 65) were conducted. Focus groups were organized according to race (African-American/European-American), gender, and whether the older adult was living independently or in an assisted care facility. When asked open-ended questions about discussing aging and EOL issues with family members, participants revealed tensions that led us to consider Relational Dialectics Theory as a framework for analysis. The predominant tension highlighted in this report was certainty versus uncertainty, with the two sub-themes of sustained life versus sustained personhood and confronting versus avoiding EOL issues. For these data, there were more similarities than differences as a result of gender, race, or living situation than one might expect, although culture and financial status were found to be influential in the avoidance of EOL discussions. The results of this study help to provide additional insight into relational dialectics related to aging, EOL, and the importance of communication in facilitating family coping.

  7. Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy

    PubMed Central

    Zhao, Z.; Hashiguchi, A.; Sakiyama, Y.; Okamoto, Y.; Tokunaga, S.; Zhu, L.; Shen, H.; Takashima, H.

    2012-01-01

    Objective: To identify a new genetic cause of distal hereditary motor neuropathy (dHMN), which is also known as a variant of Charcot-Marie-Tooth disease (CMT), in a Chinese family. Methods: We investigated a Chinese family with dHMN clinically, electrophysiologically, and genetically. We screened for the mutations of 28 CMT or related pathogenic genes using an originally designed microarray resequencing DNA chip. Results: Investigation of the family history revealed an autosomal dominant transmission pattern. The clinical features of the family included mild weakness and wasting of the distal muscles of the lower limb and foot deformity, without clinical sensory involvement. Electrophysiologic studies revealed motor neuropathy. MRI of the lower limbs showed accentuated fatty infiltration of the gastrocnemius and vastus lateralis muscles. All 4 affected family members had a heterozygous missense mutation c.2677G>A (p.D893N) of alanyl-tRNA synthetase (AARS), which was not found in the 4 unaffected members and control subjects. Conclusion: An AARS mutation caused dHMN in a Chinese family. AARS mutations result in not only a CMT phenotype but also a dHMN phenotype. PMID:22573628

  8. A family at risk: congenital prosopagnosia, poor face recognition and visuoperceptual deficits within one family.

    PubMed

    Johnen, Andreas; Schmukle, Stefan C; Hüttenbrink, Judith; Kischka, Claudia; Kennerknecht, Ingo; Dobel, Christian

    2014-05-01

    Congenital prosopagnosia (CP) describes a severe face processing impairment despite intact early vision and in the absence of overt brain damage. CP is assumed to be present from birth and often transmitted within families. Previous studies reported conflicting findings regarding associated deficits in nonface visuoperceptual tasks. However, diagnostic criteria for CP significantly differed between studies, impeding conclusions on the heterogeneity of the impairment. Following current suggestions for clinical diagnoses of CP, we administered standardized tests for face processing, a self-report questionnaire and general visual processing tests to an extended family (N=28), in which many members reported difficulties with face recognition. This allowed us to assess the degree of heterogeneity of the deficit within a large sample of suspected CPs of similar genetic and environmental background. (a) We found evidence for a severe face processing deficit but intact nonface visuoperceptual skills in three family members - a father and his two sons - who fulfilled conservative criteria for a CP diagnosis on standardized tests and a self-report questionnaire, thus corroborating findings of familial transmissions of CP. (b) Face processing performance of the remaining family members was also significantly below the mean of the general population, suggesting that face processing impairments are transmitted as a continuous trait rather than in a dichotomous all-or-nothing fashion. (c) Self-rating scores of face recognition showed acceptable correlations with standardized tests, suggesting this method as a viable screening procedure for CP diagnoses. (d) Finally, some family members revealed severe impairments in general visual processing and nonface visual memory tasks either in conjunction with face perception deficits or as an isolated impairment. This finding may indicate an elevated risk for more general visuoperceptual deficits in families with prosopagnosic members

  9. Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia.

    PubMed

    McWilliams, S; Nelson, T; Sudo, R T; Zapata-Sudo, G; Batti, M; Sambuughin, N

    2002-07-01

    Malignant hyperthermia (MH) is an autosomal dominant disorder that predisposes susceptible individuals to a potentially life-threatening crisis when exposed to commonly used anesthetics. Mutations in the skeletal muscle calcium release channel, ryanodine receptor (RYR1) are associated with MH in over 50% of affected families. Linkage analysis of the RYR1 gene region at 19q13 was performed in a large Brazilian family and a distinct disease co-segregating haplotype was revealed in the majority of members with diagnosis of MH. Subsequent sequencing of RYR1 mutational hot spots revealed a nucleotide substitution of C to T at position 7062, causing a novel amino acid change from Arg2355 to Cys associated with MH in the family. Haplotype analysis of the RYR1 gene area at 19q13 in the family with multiple MH members is an important tool in identification of genetic cause underlying this disease.

  10. An exploratory research on the role of family in youth's drug addiction.

    PubMed

    Masood, Sobia; Us Sahar, Najam

    2014-01-01

    Most of the researches in Pakistan are concerned with the aetiological factors of drug addiction among the youth. However, few studies seek to explore the social aspects of this phenomenon. The present study aimed to explore the role of family, the influence of parental involvement, and communication styles in youth's drug addiction in a qualitative manner. Twenty drug addicts (age range 18-28 years) were taken as a sample from drug rehabilitation centres in Rawalpindi and Islamabad, Pakistan. A structured interview guide was administered comprising questions related to the individual's habits, relationship with family and friends, and modes of communication within the family. Case profiles of the participants were also taken. The rehabilitation centres offered family therapy and the researcher, as a non-participant, observed these sessions as part of the analysis. The demographic information revealed that majority of the participants were poly-substance abusers (80%) and the significant reasons for starting drugs were the company of peers and curiosity. The thematic analysis revealed parental involvement and emotional expressiveness as two major components in family communication. It was found that parents were concerned about their children, but were not assertive in the implementation of family rules. It was also found that the major life decisions of the participants were taken by their parents, which is a characteristic of collectivist Pakistani society.

  11. Proton movement and coupling in the POT family of peptide transporters

    PubMed Central

    Parker, Joanne L.; Li, Chenghan; Brinth, Allete; Wang, Zhi; Vogeley, Lutz; Solcan, Nicolae; Ledderboge-Vucinic, Gregory; Swanson, Jessica M. J.; Caffrey, Martin; Voth, Gregory A.

    2017-01-01

    POT transporters represent an evolutionarily well-conserved family of proton-coupled transport systems in biology. An unusual feature of the family is their ability to couple the transport of chemically diverse ligands to an inwardly directed proton electrochemical gradient. For example, in mammals, fungi, and bacteria they are predominantly peptide transporters, whereas in plants the family has diverged to recognize nitrate, plant defense compounds, and hormones. Although recent structural and biochemical studies have identified conserved sites of proton binding, the mechanism through which transport is coupled to proton movement remains enigmatic. Here we show that different POT transporters operate through distinct proton-coupled mechanisms through changes in the extracellular gate. A high-resolution crystal structure reveals the presence of ordered water molecules within the peptide binding site. Multiscale molecular dynamics simulations confirm proton transport occurs through these waters via Grotthuss shuttling and reveal that proton binding to the extracellular side of the transporter facilitates a reorientation from an inward- to outward-facing state. Together these results demonstrate that within the POT family multiple mechanisms of proton coupling have likely evolved in conjunction with variation of the extracellular gate. PMID:29180426

  12. Proton movement and coupling in the POT family of peptide transporters.

    PubMed

    Parker, Joanne L; Li, Chenghan; Brinth, Allete; Wang, Zhi; Vogeley, Lutz; Solcan, Nicolae; Ledderboge-Vucinic, Gregory; Swanson, Jessica M J; Caffrey, Martin; Voth, Gregory A; Newstead, Simon

    2017-12-12

    POT transporters represent an evolutionarily well-conserved family of proton-coupled transport systems in biology. An unusual feature of the family is their ability to couple the transport of chemically diverse ligands to an inwardly directed proton electrochemical gradient. For example, in mammals, fungi, and bacteria they are predominantly peptide transporters, whereas in plants the family has diverged to recognize nitrate, plant defense compounds, and hormones. Although recent structural and biochemical studies have identified conserved sites of proton binding, the mechanism through which transport is coupled to proton movement remains enigmatic. Here we show that different POT transporters operate through distinct proton-coupled mechanisms through changes in the extracellular gate. A high-resolution crystal structure reveals the presence of ordered water molecules within the peptide binding site. Multiscale molecular dynamics simulations confirm proton transport occurs through these waters via Grotthuss shuttling and reveal that proton binding to the extracellular side of the transporter facilitates a reorientation from an inward- to outward-facing state. Together these results demonstrate that within the POT family multiple mechanisms of proton coupling have likely evolved in conjunction with variation of the extracellular gate. Copyright © 2017 the Author(s). Published by PNAS.

  13. Unfavourable family characteristics and their associations with childhood obesity: a cross-sectional study.

    PubMed

    Moens, Ellen; Braet, Caroline; Bosmans, Guy; Rosseel, Yves

    2009-07-01

    This cross-sectional study explores the influence of multiple familial factors on children's weight status and the interaction between parenting stress and unfavourable family characteristics. A total of 197 families with children between 6 and 14 years participated in this study. Of this group, 97 families had a child with normal weight and 100 families had a child with overweight. Parents reported on seven family factors (maternal BMI, number of children, family structure, socioeconomic position, life events, parental psychopathology and parenting stress). Families with overweight children experience more parenting stress. A regression analysis revealed that familial factors explain 27% in the variance in child's weight status. The hypothesis that a combination of familial factors will be more able to explain child's adiposity could not be confirmed. Familial factors have moderate ability to predict children's weight status. There is a need to identify other familial mechanisms taking into account developmental and temporal evolutions over the past decade. 2009 John Wiley & Sons, Ltd and Eating Disorders Association

  14. Family Violence and Family Physicians

    PubMed Central

    Herbert, Carol P.

    1991-01-01

    The acronym IDEALS summarizes family physicians' obligations when violence is suspected: to identify family violence; document injuries; educate families and ensure safety for victims; access resources and coordinate care; co-operate in the legal process; and provide support for families. Failure to respond reflects personal and professional experience and attitudes, fear of legal involvement, and lack of knowledge. Risks of intervention include physician burnout, physician overfunctioning, escalation of violence, and family disruption. PMID:21228987

  15. Family-Centered Care in Neonatal Intensive Care Units: Combining Intensive Care and Family Support.

    PubMed

    Araki, Shunsuke; Saito, Tomoko; Ichikawa, Saori; Saito, Kaori; Takada, Tsuzumi; Noguchi, Satoko; Yamada, Miki; Nakagawa, Fumi

    Advances in treatment in neonatal intensive care units (NICU) for preterm and sick newborns have improved the mortality rate of patients, but admission to the NICU may disrupt parent-infant interaction, with adverse consequences for infants and their families because of physical, psychological, and emotional separation. The concept of family centered care (FCC), in which family members are part of the care team and infants are close to the family, is important and has become popular in NICU. In 2013, we created a team called "Kodomo-Kazoku Mannaka" to promote FCC in Japan, and visited the NICU at Uppsala University Hospital in Sweden, which is internationally famous for FCC. Since this fruitful visit, we have been promoting FCC in Japan by exhibitions and presentations of the FCC ideas at academic conferences and using internet services. A questionnaire survey conducted in 2015 revealed that the importance and the benefits of FCC in NICU are recognized, although there are some barriers to FCC in each facility. It is hard to change facilities and social systems right away, but it is easier and more important to change people's minds. Our role is to spread the concept of FCC and to help each facility find its own way to adopt it. We will continue to make efforts encourage to promote FCC in Japan.

  16. Rhythms of life: antecedents and outcomes of work-family balance in employed parents.

    PubMed

    Aryee, Samuel; Srinivas, E S; Tan, Hwee Hoon

    2005-01-01

    This study examined antecedents and outcomes of a fourfold taxonomy of work-family balance in terms of the direction of influence (work-family vs. family-work) and type of effect (conflict vs. facilitation). Respondents were full-time employed parents in India. Confirmatory factor analysis results provided evidence for the discriminant validity of M. R. Frone's (2003) fourfold taxonomy of work-family balance. Results of moderated regression analysis revealed that different processes underlie the conflict and facilitation components. Furthermore, gender had only a limited moderating influence on the relationships between the antecedents and the components of work-family balance. Last, work-family facilitation was related to the work outcomes of job satisfaction and organizational commitment.

  17. Birth order, family size, and children's use of physician services.

    PubMed Central

    Tessler, R

    1980-01-01

    The purpose of this study is to separate out the effects of number of siblings and birth order on children's use of physician services. Prior research has consistently revealed an inverse relationship between family size and physician visits, but the possible confounding influence of the child's ordinal position in the family has been ignored. Later born children may be taken to the doctor less often than first and other early borns because of their parents' increasing knowledgeability in regard to child care as well as their growing understanding of the uses and limitations of physician visits. On the assumption that part of the family size effect observed in prior research may have been due to the clustering of first and early borns in small families, an inverse relationship between birth order and physician utilization is hypothesized. Support for this hypothesis comes from an empirical study of 1,665 children from 587 families in which variation in family size is statistically controlled. PMID:7372499

  18. Defining crisis in families of individuals with autism spectrum disorders

    PubMed Central

    Wingsiong, Aranda; Lunsky, Yona

    2014-01-01

    Parents of children diagnosed with autism spectrum disorder often report higher levels of depression, anxiety, and mental health–related issues. The combination of stressors and family adjustment difficulties can cause distress which may develop into a crisis. Understanding crisis in the family is important to mental health practice since it can serve as a guide in delivering service to at-risk families. This study investigated the subjective experience of crisis in 155 mothers of children diagnosed with autism spectrum disorder. Thematic analysis revealed that crisis is characterized by factors influencing four major areas: demands, internal capabilities, external resources, and subjective appraisal. Understanding what crisis means to families of individuals with autism spectrum disorder can help inform effective preventative and crisis services. PMID:24254639

  19. Changing Familial Roles for Immigrant Adolescents from the Former Soviet Union to Israel

    ERIC Educational Resources Information Center

    Kosner, Anna; Roer-Strier, Dorit; Kurman, Jenny

    2014-01-01

    This article examines how young immigrants to Israel from the former Soviet Union during their adolescence perceive and cope with the resulting changes in their family roles. Data collected via interviews and focus groups from adolescents and young adults ("N" = 34) revealed six distinct roles: language broker, family navigator,…

  20. Family Characteristics and Children's Receipt of Autism Services in Low-Resourced Families.

    PubMed

    Karp, Elizabeth A; Dudovitz, Rebecca; Nelson, Bergen B; Shih, Wendy; Gulsrud, Amanda; Orlich, Felice; Colombi, Costanza; Kuo, Alice A

    2018-04-01

    Parents of children with autism spectrum disorder (ASD) face competing demands when caring for their child and fulfilling family commitments. It remains unknown whether family obligations and parental stress might decrease the use of intervention services for young children with ASD. The current study is a secondary analysis of baseline date from a published randomized control trial with 147 low-resourced caregiver-child dyads. Demographic information, data on service use, maternal employment, parent's perception of their child's development, and parental stress were collected for primary caregivers of 2- to 5-year-old children with ASD from 5 sites. Multiple logistic regressions of accessing any intervention services or more than 1 services on familial characteristics were performed, controlling for demographic and contextual variables. Twenty-five percent of children were receiving no intervention service; 26% were receiving 1 service; and 49% were receiving 2 or more services. Perceived developmental delay and not having a sibling in the home were associated with higher odds of receiving intervention services. Children were more likely to receive more than 1 service if their parents had at least a college education and low levels of stress. Factors including perceived developmental level, parental stress, and caring for siblings may play a role in accessing services for children with ASD. Results reveal that competing family needs may be barriers to service use. Mothers of children with ASD with multiple children in the home, low levels of education, and high levels of stress may need additional supports or alternative service delivery models. Copyright © 2018 by the American Academy of Pediatrics.

  1. Female Physicians and the Work-Family Conflict.

    PubMed

    Treister-Goltzman, Yulia; Peleg, Roni

    2016-05-01

    There has been a dramatic increase in the number of female physicians in all fields and specializations of medicine, but this increase has not resulted in a redistribution of domestic tasks and responsibilities. Reviewing the literature of the last two decades (April 1994 to April 2014) on how female physicians cope with the challenge of balancing their family and professional lives for the duration of their professional careers revealed that they suffer from the work-family conflict more than other professionals and that it has a more negative effect on women than on men. Women physicians consider work-family balance significantly when making career choices. These considerations affect their career success, their productivity as faculty members, their marital life, and parenthood. Having a supportive spouse at home and a facilitating mentor at work are important for a positive work-family balance among female physicians. Special career-supporting measures, such as flexible work schedules and expanded support for childcare over the course of work and when taking part in academic activities, are critical for female physicians.

  2. Technical nursing students interacting with family members of hospitalized children.

    PubMed

    Onishi, Juliana Yukari Takahashi; Ribeiro, Circéa Amália; Silva, Maria Cristina Ferreira Carlos Rodrigues da; Borba, Regina Issuzu Hirooka de

    2017-01-01

    To understand technical nursing students' meaning of interacting with family members of hospitalized children. Symbolic Interactionism was used as the theoretical framework and Qualitative Content Analysis was the methodological procedure. A total of eight graduates from an institution situated in the city of Osasco, Sao Paulo state, participated in this study. Data were collected through semi-structured interviews. A total of five representative themes were revealed: Dealing with difficult situations with family members; Perceiving oneself to be unprepared to interact with family members; Family members being a helpful tool; Developing strategies to obtain a good interaction with family members; and Teachers being facilitators of the interaction with family members. To be acquainted with this experience has led to the understanding of the need to include the theme of family care in the curriculum of the Technical Nursing Course. Additionally, the present study contributed to reflections on the importance of such knowledge for this population and to the development of future studies, as this theme has been scarcely explored in the literature.

  3. A family with Wagner syndrome with uveitis and a new versican mutation.

    PubMed

    Rothschild, Pierre-Raphaël; Brézin, Antoine P; Nedelec, Brigitte; Burin des Roziers, Cyril; Ghiotti, Tiffany; Orhant, Lucie; Boimard, Mathieu; Valleix, Sophie

    2013-01-01

    To report the clinical and molecular findings of a kindred with Wagner syndrome (WS) revealed by intraocular inflammatory features. Eight available family members underwent complete ophthalmologic examination, including laser flare cell meter measurements. Collagen, type II, alpha 1, versican (VCAN), frizzled family receptor 4, low density lipoprotein receptor-related protein 5, tetraspanin 12, and Norrie disease (pseudoglioma) genes were screened with direct sequencing. The index case was initially referred for unexplained severe and chronic postoperative bilateral uveitis following a standard cataract surgery procedure. Clinical examination of the proband revealed an optically empty vitreous with avascular vitreous strands and veils, features highly suggestive of WS. The systematic familial ophthalmologic examination identified three additional unsuspected affected family members who also presented with the WS phenotype, including uveitis for one of them. We identified a novel c.4004-6T>A nucleotide substitution at the acceptor splice site of intron 7 of the VCAN gene that segregated with the disease phenotype. We present a family with WS with typical WS features and intraocular inflammatory manifestations associated with a novel splice site VCAN mutation. Beyond the structural role in the retinal-vitreous architecture, versican is also emerging as a pivotal mediator of the inflammatory response, supporting uveitis predisposition as a clinical manifestation of WS.

  4. Familism Values, Family Time, and Mexican-Origin Young Adults’ Depressive Symptoms

    PubMed Central

    Zeiders, Katharine H.; Updegraff, Kimberly A.; Umaña-Taylor, Adriana J.; McHale, Susan M.; Padilla, Jenny

    2015-01-01

    Using longitudinal data across eight years, this study examined how parents’ familism values in early adolescence predicted youths’ depressive symptoms in young adulthood via youths’ familism values and family time. We examined these processes among 246 Mexican-origin families using interview and phone-diary data. Findings revealed that fathers’ familism values predicted male and female youths’ familism values in middle adolescence. For female youth only, fathers’ familism values also predicted youths’ family time in late adolescence. The link between family time and young adults’ depressive symptoms depended on parental acceptance and adolescent gender: Among female and male youth, family time predicted fewer depressive symptoms, but only when paternal acceptance was high. For female adolescents only, family time predicted fewer depressive symptoms when maternal acceptance was high but more depressive symptoms when maternal acceptance was low. Findings highlight family dynamics as the mechanisms through which familism values have implications for youths’ adjustment. PMID:26778855

  5. Fields of Toil: A Migrant Family's Journey.

    ERIC Educational Resources Information Center

    Valle, Isabel

    Journalist Isabel Valle lived and traveled for 1 year with the family of Raul and Maria Elena Martinez, migrant farmworkers who make their permanent home in south Texas. Her reports appeared every Sunday in the Walla Walla Union-Bulletin's award-winning series "Fields of Toil." This book compiles those weekly reports, which reveal the…

  6. Supporting employees’ work-family needs improves health care quality: longitudinal evidence from long-term care

    PubMed Central

    Okechukwu, Cassandra A.; Kelly, Erin L.; Bacic, Janine; DePasquale, Nicole; Hurtado, David; Kossek, Ellen; Sembajwe, Grace

    2016-01-01

    We analyzed qualitative and quantitative data from U.S.-based employees in 30 long-term care facilities. Analysis of semi-structured interviews from 154 managers informed quantitative analyses. Quantitative data include 1,214 employees’ scoring of their supervisors and their organizations on family supportiveness (individual scores and aggregated to facility level), and three outcomes: (1), care quality indicators assessed at facility level (n=30) and collected monthly for six months after employees’ data collection; (2), employees’ dichotomous survey response on having additional off-site jobs; and (3), proportion of employees with additional jobs at each facility. Thematic analyses revealed that managers operate within the constraints of an industry that simultaneously: (a) employs low-wage employees with multiple work-family challenges, and (b) has firmly institutionalized goals of prioritizing quality of care and minimizing labor costs. Managers universally described providing work-family support and prioritizing care quality as antithetical to each other. Concerns surfaced that family-supportiveness encouraged employees to work additional jobs off-site, compromising care quality. Multivariable linear regression analysis of facility-level data revealed that higher family-supportive supervision was associated with significant decreases in residents’ incidence of all pressure ulcers (−2.62%) and other injuries (−9.79%). Higher family-supportive organizational climate was associated with significant decreases in all falls (−17.94%) and falls with injuries (−7.57%). Managers’ concerns about additional jobs were not entirely unwarranted: multivariable logistic regression of employee-level data revealed that among employees with children, having family-supportive supervision was associated with significantly higher likelihood of additional off-site jobs (RR 1.46, 95%CI 1.08-1.99), but family-supportive organizational climate was associated with

  7. Supporting employees' work-family needs improves health care quality: Longitudinal evidence from long-term care.

    PubMed

    Okechukwu, Cassandra A; Kelly, Erin L; Bacic, Janine; DePasquale, Nicole; Hurtado, David; Kossek, Ellen; Sembajwe, Grace

    2016-05-01

    We analyzed qualitative and quantitative data from U.S.-based employees in 30 long-term care facilities. Analysis of semi-structured interviews from 154 managers informed quantitative analyses. Quantitative data include 1214 employees' scoring of their supervisors and their organizations on family supportiveness (individual scores and aggregated to facility level), and three outcomes: (1), care quality indicators assessed at facility level (n = 30) and collected monthly for six months after employees' data collection; (2), employees' dichotomous survey response on having additional off-site jobs; and (3), proportion of employees with additional jobs at each facility. Thematic analyses revealed that managers operate within the constraints of an industry that simultaneously: (a) employs low-wage employees with multiple work-family challenges, and (b) has firmly institutionalized goals of prioritizing quality of care and minimizing labor costs. Managers universally described providing work-family support and prioritizing care quality as antithetical to each other. Concerns surfaced that family-supportiveness encouraged employees to work additional jobs off-site, compromising care quality. Multivariable linear regression analysis of facility-level data revealed that higher family-supportive supervision was associated with significant decreases in residents' incidence of all pressure ulcers (-2.62%) and other injuries (-9.79%). Higher family-supportive organizational climate was associated with significant decreases in all falls (-17.94%) and falls with injuries (-7.57%). Managers' concerns about additional jobs were not entirely unwarranted: multivariable logistic regression of employee-level data revealed that among employees with children, having family-supportive supervision was associated with significantly higher likelihood of additional off-site jobs (RR 1.46, 95%CI 1.08-1.99), but family-supportive organizational climate was associated with lower likelihood

  8. Family functioning in the families of psychiatric patients: a comparison with nonclinical families.

    PubMed

    Trangkasombat, Umaporn

    2006-11-01

    To examine family functioning in the families of psychiatric patients. Families of psychiatric patients and nonclinical families were compared. There were 60 families in each group. The instrument included a semistructured interview of family functioning and the Chulalongkorn Family Inventory (CFI), a self-report questionnaire designed to assess the perception of one's family. From the assessment by semistructured interview, 83.3% of psychiatric families and 45.0% of nonclinical families were found to be dysfunctional in at least one dimension. The difference was statistically significant (p < 0.001). The average number of dysfunctional dimensions in the psychiatric families was significantly higher than in the nonclinical control group, 3.5 +/- 1.9 and 0.98 +/- 1.5 respectively, p < 0.0001. The CFI scores of the psychiatric families were significantly lower than the control group, reflecting poor family functioning. The dysfunctions were mostly in the following dimensions: problem-solving, communication, affective responsiveness, affective involvement, and behavior control. Psychiatric families faced more psychosocial stressors and the average number of stressors was higher than the control families, 88.3% vs. 56.7% and 4.2 +/- 2.7 vs. 1.3 +/- 1.47 stressors respectively, p < 0.0001. Family functioning of psychiatric patients was less healthy than the nonclinical control. The present study underlined the significance of family assessment and family intervention in the comprehensive care of psychiatric patients.

  9. Structural Analysis of a Family 101 Glycoside Hydrolase in Complex with Carbohydrates Reveals Insights into Its Mechanism.

    PubMed

    Gregg, Katie J; Suits, Michael D L; Deng, Lehua; Vocadlo, David J; Boraston, Alisdair B

    2015-10-16

    O-Linked glycosylation is one of the most abundant post-translational modifications of proteins. Within the secretory pathway of higher eukaryotes, the core of these glycans is frequently an N-acetylgalactosamine residue that is α-linked to serine or threonine residues. Glycoside hydrolases in family 101 are presently the only known enzymes to be able to hydrolyze this glycosidic linkage. Here we determine the high-resolution structures of the catalytic domain comprising a fragment of GH101 from Streptococcus pneumoniae TIGR4, SpGH101, in the absence of carbohydrate, and in complex with reaction products, inhibitor, and substrate analogues. Upon substrate binding, a tryptophan lid (residues 724-WNW-726) closes on the substrate. The closing of this lid fully engages the substrate in the active site with Asp-764 positioned directly beneath C1 of the sugar residue bound within the -1 subsite, consistent with its proposed role as the catalytic nucleophile. In all of the bound forms of the enzyme, however, the proposed catalytic acid/base residue was found to be too distant from the glycosidic oxygen (>4.3 Å) to serve directly as a general catalytic acid/base residue and thereby facilitate cleavage of the glycosidic bond. These same complexes, however, revealed a structurally conserved water molecule positioned between the catalytic acid/base and the glycosidic oxygen. On the basis of these structural observations we propose a new variation of the retaining glycoside hydrolase mechanism wherein the intervening water molecule enables a Grotthuss proton shuttle between Glu-796 and the glycosidic oxygen, permitting this residue to serve as the general acid/base catalytic residue. © 2015 by The American Society for Biochemistry and Molecular Biology, Inc.

  10. Siblings' Power and Influence in Polyadic Family Conflict During Early Childhood.

    PubMed

    Della Porta, Sandra; Howe, Nina

    2017-06-01

    This study examined sibling behavior during polyadic family conflicts (involving three or more family members) by identifying operational conflict elements (i.e., roles, topic), power strategies, effective influence of power, and social domain argumentation. Polyadic conflict sequences (n = 210) were identified in 35/39 families with two siblings (aged 4 and 6) and their parents observed at home. The dominant conflict topic, siblings' use of power and power strategy executed in relation to social domain argumentation, revealed unique qualities of conflict in the polyadic family context; effective use of power strategies to facilitate favorable outcomes differed by sibling birth order. Our account presents a nuanced view of the intricacies of polyadic family conflict, which provides unique opportunities for children's learning and socialization by siblings and parents. © 2017 Wiley Periodicals, Inc.

  11. THE SCHULHOF FAMILY: SOLVING THE AGE PUZZLE

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Vokrouhlický, David; Ďurech, Josef; Pravec, Petr

    The Schulhof family, a tight cluster of small asteroids around the central main belt body (2384) Schulhof, belongs to a so far rare class of very young families (estimated ages less than 1 Myr). Characterization of these asteroid clusters may provide important insights into the physics of the catastrophic disruption of their parent body. The case of the Schulhof family has been up to now complicated by the existence of two proposed epochs of its origin. In this paper, we first use our own photometric observations, as well as archival data, to determine the rotation rate and spin axis orientation ofmore » the largest fragment (2384) Schulhof. Our data also allow us to better constrain the absolute magnitude of this asteroid, and thus also improve the determination of its geometric albedo. Next, using the up-to-date catalog of asteroid orbits, we perform a new search of smaller members in the Schulhof family, increasing their number by 50%. Finally, the available data are used to access Schulhof's family age anew. We now find that the younger of the previously proposed two ages of this family is not correct, resulting from a large orbital uncertainty of single-opposition members. Our new runs reveal a single age solution of about 800 kyr with a realistic uncertainty of 200 kyr.« less

  12. The Schulhof Family: Solving the Age Puzzle

    NASA Astrophysics Data System (ADS)

    Vokrouhlický, David; Ďurech, Josef; Pravec, Petr; Kušnirák, Peter; Hornoch, Kamil; Vraštil, Jan; Krugly, Yurij N.; Inasaridze, Raguli Ya.; Ayvasian, Vova; Zhuzhunadze, Vasili; Molotov, Igor E.; Pray, Donald; Husárik, Marek; Pollock, Joseph T.; Nesvorný, David

    2016-03-01

    The Schulhof family, a tight cluster of small asteroids around the central main belt body (2384) Schulhof, belongs to a so far rare class of very young families (estimated ages less than 1 Myr). Characterization of these asteroid clusters may provide important insights into the physics of the catastrophic disruption of their parent body. The case of the Schulhof family has been up to now complicated by the existence of two proposed epochs of its origin. In this paper, we first use our own photometric observations, as well as archival data, to determine the rotation rate and spin axis orientation of the largest fragment (2384) Schulhof. Our data also allow us to better constrain the absolute magnitude of this asteroid, and thus also improve the determination of its geometric albedo. Next, using the up-to-date catalog of asteroid orbits, we perform a new search of smaller members in the Schulhof family, increasing their number by 50%. Finally, the available data are used to access Schulhof's family age anew. We now find that the younger of the previously proposed two ages of this family is not correct, resulting from a large orbital uncertainty of single-opposition members. Our new runs reveal a single age solution of about 800 kyr with a realistic uncertainty of 200 kyr.

  13. Genome-Wide Identification and Expression Profiling of ATP-Binding Cassette (ABC) Transporter Gene Family in Pineapple (Ananas comosus (L.) Merr.) Reveal the Role of AcABCG38 in Pollen Development

    PubMed Central

    Chen, Piaojuan; Li, Yi; Zhao, Lihua; Hou, Zhimin; Yan, Maokai; Hu, Bingyan; Liu, Yanhui; Azam, Syed Muhammad; Zhang, Ziyan; Rahman, Zia ur; Liu, Liping; Qin, Yuan

    2017-01-01

    Pineapple (Ananas comosus L.) cultivation commonly relies on asexual reproduction which is easily impeded by many factors in agriculture production. Sexual reproduction might be a novel approach to improve the pineapple planting. However, genes controlling pineapple sexual reproduction are still remain elusive. In different organisms a conserved superfamily proteins known as ATP binding cassette (ABC) participate in various biological processes. Whereas, till today the ABC gene family has not been identified in pineapple. Here 100 ABC genes were identified in the pineapple genome and grouped into eight subfamilies (5 ABCAs, 20 ABCBs, 16 ABCCs, 2 ABCDs, one ABCEs, 5 ABCFs, 42 ABCGs and 9 ABCIs). Gene expression profiling revealed the dynamic expression pattern of ABC gene family in various tissues and different developmental stages. AcABCA5, AcABCB6, AcABCC4, AcABCC7, AcABCC9, AcABCG26, AcABCG38 and AcABCG42 exhibited preferential expression in ovule and stamen. Over-expression of AcABCG38 in the Arabidopsis double mutant abcg1-2abcg16-2 partially restored its pollen abortion defects, indicating that AcABCG38 plays important roles in pollen development. Our study on ABC gene family in pineapple provides useful information for developing sexual pineapple plantation which could be utilized to improve pineapple agricultural production. PMID:29312399

  14. Genome-Wide Identification and Expression Profiling of ATP-Binding Cassette (ABC) Transporter Gene Family in Pineapple (Ananas comosus (L.) Merr.) Reveal the Role of AcABCG38 in Pollen Development.

    PubMed

    Chen, Piaojuan; Li, Yi; Zhao, Lihua; Hou, Zhimin; Yan, Maokai; Hu, Bingyan; Liu, Yanhui; Azam, Syed Muhammad; Zhang, Ziyan; Rahman, Zia Ur; Liu, Liping; Qin, Yuan

    2017-01-01

    Pineapple ( Ananas comosus L .) cultivation commonly relies on asexual reproduction which is easily impeded by many factors in agriculture production. Sexual reproduction might be a novel approach to improve the pineapple planting. However, genes controlling pineapple sexual reproduction are still remain elusive. In different organisms a conserved superfamily proteins known as ATP binding cassette (ABC) participate in various biological processes. Whereas, till today the ABC gene family has not been identified in pineapple. Here 100 ABC genes were identified in the pineapple genome and grouped into eight subfamilies (5 ABCAs , 20 ABCB s, 16 ABCCs , 2 ABCDs , one ABCEs , 5 ABCFs , 42 ABCGs and 9 ABCIs ). Gene expression profiling revealed the dynamic expression pattern of ABC gene family in various tissues and different developmental stages. AcABCA5, AcABCB6, AcABCC4 , AcABCC7 , AcABCC9 , AcABCG26 , AcABCG38 and AcABCG42 exhibited preferential expression in ovule and stamen. Over-expression of AcABCG38 in the Arabidopsis double mutant abcg1-2abcg16-2 partially restored its pollen abortion defects, indicating that AcABCG38 plays important roles in pollen development. Our study on ABC gene family in pineapple provides useful information for developing sexual pineapple plantation which could be utilized to improve pineapple agricultural production.

  15. Variation among slash pine families in chlorophyll fluorescence traits

    Treesearch

    Anita C. Koehn; James H. Roberds; Robert L. Doudrick

    2003-01-01

    Abstract: Photochemical quenching, nonphotochemical quenching, and yield of photosystem II were measured on seedlings of full-sibling, open-, and self-pollinated slash pine (Pinus elliottii Engelm. var. elliottii) families. Our results reveal that genetic variation in photochemical quenching and yield of...

  16. Family Functioning and the Development of Trust and Intimacy among Adolescents in Residential Treatment

    ERIC Educational Resources Information Center

    Coll, Kenneth M.; Powell, Stephanie; Thobro, Patti; Haas, Robin

    2010-01-01

    This study examined relations between family cohesion and adaptability (as measured by the Family Adaptability and Cohesion Scales-III) and the formation of trust and intimacy (assessed with the Measure of Psychosocial Development) among adolescents in residential treatment. Bivariate correlation revealed a significant association between family…

  17. Support Services for Victims of Political Violence and Their Families: A Comparison between Israelis and Palestinians

    ERIC Educational Resources Information Center

    Abbott, Douglas A.

    2010-01-01

    This report summarizes interviews with five social workers who helped families that experienced political violence, and with 16 families that lost a family member due to terrorist activity in Israel and Palestine from 2000 to 2005. Results revealed a great disparity between the Israelis and the Palestinians on the types of and extent of benefits…

  18. Cryo-EM structure of lysenin pore elucidates membrane insertion by an aerolysin family protein

    NASA Astrophysics Data System (ADS)

    Bokori-Brown, Monika; Martin, Thomas G.; Naylor, Claire E.; Basak, Ajit K.; Titball, Richard W.; Savva, Christos G.

    2016-04-01

    Lysenin from the coelomic fluid of the earthworm Eisenia fetida belongs to the aerolysin family of small β-pore-forming toxins (β-PFTs), some members of which are pathogenic to humans and animals. Despite efforts, a high-resolution structure of a channel for this family of proteins has been elusive and therefore the mechanism of activation and membrane insertion remains unclear. Here we determine the pore structure of lysenin by single particle cryo-EM, to 3.1 Å resolution. The nonameric assembly reveals a long β-barrel channel spanning the length of the complex that, unexpectedly, includes the two pre-insertion strands flanking the hypothetical membrane-insertion loop. Examination of other members of the aerolysin family reveals high structural preservation in this region, indicating that the membrane-insertion pathway in this family is conserved. For some toxins, proteolytic activation and pro-peptide removal will facilitate unfolding of the pre-insertion strands, allowing them to form the β-barrel of the channel.

  19. Using research to determine support for a policy on family presence during resuscitation.

    PubMed

    Basol, Roberta; Ohman, Kathleen; Simones, Joyce; Skillings, Kirsten

    2009-01-01

    National guidelines and professional organizations have recommended allowing family presence during resuscitation and bedside invasive procedures. Studies found that only 5% of critical care units have written policies. Periodic requests by family members prompted the creation of a task force, including nurses, physicians, and respiratory therapists, to develop this controversial policy. Before development, a research study of healthcare personnel attitudes, concerns, and beliefs toward family presence during cardiopulmonary resuscitation and bedside invasive procedures was done. This descriptive and correlational study showed support for family presence by critical care and emergency department nurses. Findings revealed both support and non-support for families to be present during resuscitative efforts. Providing family presence as an option offers an opportunity for reluctant healthcare team members to refuse their presence and an opportunity for those who support family presence to welcome the family.

  20. Improving productivity levels: family planning services for factory workers.

    PubMed

    Darmokusumo, H V

    1989-10-01

    In May 1984, the Minister of Manpower in Indonesia, the Chairman of the BKKBN, and representatives of the employers' and workers' organizations of Indonesia issued a joint decree pledging that they would work together to enhance the implementation of the family planning program among workers in the organized sector. 1 objective of the decree is to improve workers' productivity and the standard of living of workers and their families by implementing a family planning program. 1 baseline survey and a clinic-based survey in 5 provinces revealed that 90% of women workers are between 21-40, or are of reproductive age, and are sexually active. Only about 50% are practicing family planning; the other 50% are afraid to practice family planning due to potential side effects of various methods. This fear was most often caused by negative rumors spread by unsatisfied family planning clients. Placing materials for family planning promotion such as instructional posters and video programs advertising contraceptive services in the work setting may increase knowledge and help alleviate some of this fear. Other studies of family planning services show that employees prefer female medical doctors or midwives as service providers, employees are willing to pay for services (but can only afford a small fee), and family planning service points should be near employees' work sites.

  1. Family support, family stress, and suicidal ideation in a combat-exposed sample of Operation Enduring Freedom/Operation Iraqi Freedom veterans.

    PubMed

    Gradus, Jaimie L; Smith, Brian N; Vogt, Dawne

    2015-01-01

    Deployment-related risk factors for suicidal ideation among Operation Enduring Freedom (OEF) and Operation Iraqi Freedom (OIF) veterans have received a great deal of attention. Studies show that mental health symptoms mediate the association between most deployment stressors and suicidal ideation; however, family-related factors during deployment are largely unexplored. We examined posttraumatic stress disorder (PTSD) and depression symptoms as mediators of the associations between deployment family support and stress and post-deployment suicidal ideation in combat-exposed OEF/OIF veterans. National cross-sectional mail survey. 1046 veterans responded to the survey. The sample for this study was 978 veterans who experienced combat. Regression-based path analyses were conducted. Family support and stress had direct associations with suicidal ideation. When PTSD and depression symptoms were examined as mediators of these associations, results revealed significant indirect paths through these symptoms. This study contributes to the literature on suicidal ideation risk factors among OEF/OIF veterans. Deployment family support and family stress are associated with suicidal ideation; however these associations occur primarily through mental health symptomatology, consistent with findings observed for other deployment factors. This research supports ongoing efforts to treat mental health symptomatology as a means of suicide prevention.

  2. Strengthening Family Practices for Latino Families.

    PubMed

    Chartier, Karen G; Negroni, Lirio K; Hesselbrock, Michie N

    2010-01-01

    The study examined the effectiveness of a culturally-adapted Strengthening Families Program (SFP) for Latinos to reduce risks for alcohol and drug use in children. Latino families, predominantly Puerto Rican, with a 9-12 year old child and a parent(s) with a substance abuse problem participated in the study. Pre- and post-tests were conducted with each family. Parental stress, parent-child dysfunctional relations, and child behavior problems were reduced in the families receiving the intervention; family hardiness and family attachment were improved. Findings contribute to the validation of the SFP with Latinos, and can be used to inform social work practice with Puerto Rican families.

  3. Examining the relationship between work-family spillover and sleep quality.

    PubMed

    Williams, Alysha; Franche, Renée-Louise; Ibrahim, Selahadin; Mustard, Cameron A; Layton, Francine Roussy

    2006-01-01

    The present study examined the relationship between work-family spillover, job characteristics, and sleep quality in a sample of health care workers (N = 168) recruited from 3 Canadian hospitals. A multiple regression analysis revealed that positive family-to-work spillover is associated with better sleep quality, after controlling for age, physical health, depressive symptomatology, work situation, and number of children. These findings are discussed within a theoretical framework drawing on the concepts of effort and recovery. Copyright 2006 APA.

  4. Theories of Family Labor as Applied to Gender Differences in Caregiving for Elderly Parents.

    ERIC Educational Resources Information Center

    Finley, Nancy J.

    1989-01-01

    Examined four popular hypotheses of family labor--time-available, socialization/ideology, external-resources, and specialization-of-tasks--to explain gender differences in caregiving to elderly parents. Data from adults with mother over age 70 revealed that these theories of gender differences in divisions of family labor did not adequately…

  5. A Comparison of the Family Environments of Black Male and Female Adolescent Alcohol Users.

    ERIC Educational Resources Information Center

    Brinson, Jesse A.

    1991-01-01

    Examined African-American adolescents' use of alcohol and their perceptions of their family environments. Alcohol-using adolescents (n=71) completed Family Environment Scale (FES). Analyses of data revealed that females differed significantly from males on 4 of 10 FES subscales. Findings support view that alcohol affects perception of family…

  6. Familial epilepsy in Algeria: Clinical features and inheritance profiles.

    PubMed

    Chentouf, Amina; Dahdouh, Aïcha; Guipponi, Michel; Oubaiche, Mohand Laïd; Chaouch, Malika; Hamamy, Hanan; Antonarakis, Stylianos E

    2015-09-01

    To document the clinical characteristics and inheritance pattern of epilepsy in multigeneration Algerian families. Affected members from extended families with familial epilepsy were assessed at the University Hospital of Oran in Algeria. Available medical records, neurological examination, electroencephalography and imaging data were reviewed. The epilepsy type was classified according to the criteria of the International League Against Epilepsy and modes of inheritance were deduced from pedigree analysis. The study population included 40 probands; 23 male (57.5%) and 17 female subjects (42.5%). The mean age of seizure onset was 9.5 ± 6.1 years. According to seizure onset, 16 patients (40%) had focal seizures and 20 (50%) had generalized seizures. Seizure control was achieved for two patients (5%) for 10 years, while 28 (70%) were seizure-free for 3 months. Eleven patients (27.5%) had prior febrile seizures, 12 were diagnosed with psychiatric disorders and four families had syndromic epilepsy. The consanguinity rate among parents of affected was 50% with phenotypic concordance observed in 25 families (62.5%). Pedigree analysis suggested autosomal dominant (AD) inheritance with or without reduced penetrance in 18 families (45%), probable autosomal recessive (AR) inheritance in 14 families (35%), and an X-linked recessive inheritance in one family. This study reveals large Algerian families with multigenerational inheritance of epilepsy. Molecular testing such as exome sequencing would clarify the genetic basis of epilepsy in some of our families. Copyright © 2015 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  7. miR-200 family promotes podocyte differentiation through repression of RSAD2

    PubMed Central

    Li, Zhigui; Yin, Hongqiang; Hao, Shuang; Wang, Lifeng; Gao, Jing; Tan, Xiaoyue; Yang, Zhuo

    2016-01-01

    Mature podocytes are highly differentiated cells with several characteristic phenotypic features that are involved in the glomerular filtration function. During kidney development, a series of changes of the morphological characteristics and cellular functions may happen in podocytes. The miR-200 family functions in various biological and pathological processes. But the underlying molecular mechanisms of miR-200 family that functions in podocyte differentiation remain poorly understood. Herein is shown that miR-200a, miR-200b and miR-429 are significantly upregulated during the differentiation of podocytes, with highest upregulation of miR-200a. In these cells, restraint of miR-200 family by RNA interference assay revealed a prominent inhibition of cell differentiation. More intriguingly, miR-200 family directly inhibited the radical S-adenosyl methionine domain-containing protein 2 (RASD2) expression. Moreover, further upregulation of RSAD2 combining with restraint of miR-200 family revealed a promotion of podocyte dedifferentiation and proliferation. In addition, the expression of RSAD2 is consistent with that of in vitro podocyte differentiation in prenatal and postnatal mouse kidney, and significantly down-regulated during the kidney development. Together, these findings indicate that miR-200 family may potentially promote podocyte differentiation through repression of RSAD2 expression. Our data also demonstrate a novel role of the antiviral protein RSAD2 as a regulator in cell differentiation. PMID:27251424

  8. Risk and resiliency processes in ethnically diverse families in poverty.

    PubMed

    Wadsworth, Martha E; Santiago, Catherine Decarlo

    2008-06-01

    Families living in poverty face numerous stressors that threaten the health and well-being of family members. This study examined the relationships among family-level poverty-related stress (PRS), individual-level coping with PRS, and a wide range of psychological symptoms in an ethnically diverse sample of 98 families (300 family members) living at or below 150% of the federal poverty line. Hierarchical linear model (HLM) analyses revealed that family PRS is robustly related to a wide range of psychological syndromes for family members of both genders, all ages, and all ethnic backgrounds. In addition, primary and secondary control coping were both found to serve as buffers of PRS for many syndromes. For several psychological syndromes, parents showed significantly higher levels of symptoms, but the link between PRS and symptoms was significantly stronger for children than for adults. Ethnicity was not a significant predictor in overall HLM models or follow-up analyses, suggesting that the broad construct of PRS and the theoretical model tested here apply across the 3 major ethnic groups included in this study. The findings suggest that family-based, coping-focused interventions have the potential to promote resiliency and break linkages in the pernicious cycle of family economic stress. (c) 2008 APA, all rights reserved

  9. Family joint activities in a cross-national perspective.

    PubMed

    Zaborskis, Apolinaras; Zemaitiene, Nida; Borup, Ina; Kuntsche, Emmanuel; Moreno, Carmen

    2007-05-30

    Parents and children joint activities are considered to be an important factor on healthy lifestyle development throughout adolescence. This study is a part of the Cross-National Survey on Health Behaviour in School-aged Children--World Health Organization Collaborative Study (HBSC). It aims to describe family time in joint activities and to clarify the role of social and structural family profile in a cross-national perspective. The research was carried out according to the methodology of the HBSC study using the anonymous standardized questionnaire. In total, 17,761 students (8,649 boys and 9,112 girls) aged 13 and 15 years from 6 European countries (Czech Republic, Finland, Greenland, Lithuania, Spain, and Ukraine) were surveyed in the 2001-2002 school-year. The evaluation of joint family activity is based on 8 items: (1) watching TV or a video, (2) playing indoor games, (3) eating meals, (4) going for a walk, (5) going places, (6) visiting friends or relatives, (7) playing sports, (8) sitting and talking about things (chatting). Students from Spain and Ukraine reported spending the most time together with their families in almost all kinds of joint activities, whereas students from Greenland and Finland reported spending the least of this time. Boys were more likely than girls to be spending time together with family. Joint family activity goes into decline in age from 13 to 15 years. Variability of family time in a cross-national perspective was relatively small and related to children age category. Considering national, gender and age differences of studied population groups, we found that the distribution of joint family activities tends to be dispersed significantly by family structure (intact/restructured family) and family wealth. Our study compares children and parent joint activities in European countries and reveals differences and similarities in these patterns between countries. The findings underline the role of family structure (intact

  10. Dynamical portrait of the Hoffmeister asteroid family

    NASA Astrophysics Data System (ADS)

    Novakovic, Bojan; Maurel, Clara; Tsirvoulis, Georgios; Knezevic, Zoran; Radovic, Viktor

    2015-08-01

    The (1726) Hoffmeister asteroid family is located in the middle of the Main Belt, between 2.75 and 2.82 AU. It draws our attention due to its unusual shape when projected to the semi-major axis vs. inclination plane. Actually, the distribution of family members as seen in this plane clearly suggests different dynamical evolution for the two parts of the family delimited in terms of semi-major axis.Therefore, we investigate here the dynamics of the family members aiming primarily to explain the observed unusual shape, but we also reconstruct the evolution of the whole family in time, and estimated its age.The Hoffmeister family is close to the fourth degree secular resonance z1=g-g6+s-s6, and in the neighborhood of the most massive asteroid (1) Ceres, each of these possibly being responsible for the strange shape of the family. To identify which ones, if any, among the different possible dynamical mechanisms are actually at work here, we performed a set of numerical integrations. We integrate the orbits of test particles over 300 Myr, as the age of the Hoffmeister family was previously roughly estimated to be 300 ± 200 Myr. Moreover, in order to identify and isolate the main perturber(s), we repeat four times the integrations using each time a different dynamical model, taking or not into account the Yarkovsky effect and dwarf planet Ceres as a perturbing body.Our results reveal the significant role of a so far overlooked dynamical aspect, namely a secular resonance between the dwarf planet Ceres and other asteroids. In particular, we show that the post-impact evolution of the Hoffmeister asteroid family is a direct consequence of the nodal secular resonance with Ceres.

  11. Transcriptome analyses of the Dof-like gene family in grapevine reveal its involvement in berry, flower and seed development.

    PubMed

    da Silva, Danielle Costenaro; da Silveira Falavigna, Vítor; Fasoli, Marianna; Buffon, Vanessa; Porto, Diogo Denardi; Pappas, Georgios Joannis; Pezzotti, Mario; Pasquali, Giancarlo; Revers, Luís Fernando

    2016-01-01

    The Dof (DNA-binding with one finger) protein family spans a group of plant transcription factors involved in the regulation of several functions, such as plant responses to stress, hormones and light, phytochrome signaling and seed germination. Here we describe the Dof-like gene family in grapevine (Vitis vinifera L.), which consists of 25 genes coding for Dof. An extensive in silico characterization of the VviDofL gene family was performed. Additionally, the expression of the entire gene family was assessed in 54 grapevine tissues and organs using an integrated approach with microarray (cv Corvina) and real-time PCR (cv Pinot Noir) analyses. The phylogenetic analysis comparing grapevine sequences with those of Arabidopsis, tomato, poplar and already described Dof genes in other species allowed us to identify several duplicated genes. The diversification of grapevine DofL genes during evolution likely resulted in a broader range of biological roles. Furthermore, distinct expression patterns were identified between samples analyzed, corroborating such hypothesis. Our expression results indicate that several VviDofL genes perform their functional roles mainly during flower, berry and seed development, highlighting their importance for grapevine growth and production. The identification of similar expression profiles between both approaches strongly suggests that these genes have important regulatory roles that are evolutionally conserved between grapevine cvs Corvina and Pinot Noir.

  12. Transcriptome analyses of the Dof-like gene family in grapevine reveal its involvement in berry, flower and seed development

    PubMed Central

    da Silva, Danielle Costenaro; da Silveira Falavigna, Vítor; Fasoli, Marianna; Buffon, Vanessa; Porto, Diogo Denardi; Pappas, Georgios Joannis; Pezzotti, Mario; Pasquali, Giancarlo; Revers, Luís Fernando

    2016-01-01

    The Dof (DNA-binding with one finger) protein family spans a group of plant transcription factors involved in the regulation of several functions, such as plant responses to stress, hormones and light, phytochrome signaling and seed germination. Here we describe the Dof-like gene family in grapevine (Vitis vinifera L.), which consists of 25 genes coding for Dof. An extensive in silico characterization of the VviDofL gene family was performed. Additionally, the expression of the entire gene family was assessed in 54 grapevine tissues and organs using an integrated approach with microarray (cv Corvina) and real-time PCR (cv Pinot Noir) analyses. The phylogenetic analysis comparing grapevine sequences with those of Arabidopsis, tomato, poplar and already described Dof genes in other species allowed us to identify several duplicated genes. The diversification of grapevine DofL genes during evolution likely resulted in a broader range of biological roles. Furthermore, distinct expression patterns were identified between samples analyzed, corroborating such hypothesis. Our expression results indicate that several VviDofL genes perform their functional roles mainly during flower, berry and seed development, highlighting their importance for grapevine growth and production. The identification of similar expression profiles between both approaches strongly suggests that these genes have important regulatory roles that are evolutionally conserved between grapevine cvs Corvina and Pinot Noir. PMID:27610237

  13. Economic Stress, Parenting, and Child Adjustment in Mexican American and European American Families

    ERIC Educational Resources Information Center

    Parke, Ross D.; Coltrane, Scott; Duffy, Sharon; Buriel, Raymond; Dennis, Jessica; Powers, Justina; French, Sabine; Widaman, Keith F.

    2004-01-01

    To assess the impact of economic hardship on 111 European American and 167 Mexican American families and their 5th-grade (M age 11.4 years) children, a family stress model was evaluated. Structural equation analyses revealed that economic hardship was linked to indexes of economic pressure that were related to depressive symptoms for mothers and…

  14. The Work-Family Interface as a Mediator between Job Demands and Employee Behaviour.

    PubMed

    Jenkins, Jade S; Heneghan, Camille J; Bailey, Sarah F; Barber, Larissa K

    2016-04-01

    In this investigation, we draw from the job demands-resource model and conservation of resources theory to examine the relationship between job demands, the work-family interface and worker behaviours. Data collected from an online survey of workers revealed that hindrance demands indirectly increase interpersonal and organizational deviance through work interference with family and family interference with work. Challenge demands indirectly predict interpersonal and organizational deviance through work interference with family. Finally, hindrance demands indirectly decreased individual-directed organizational citizenship behaviours through work-to-family enrichment. Taken together, these results stress the relevance of job demand management and resource drain/acquisition to counterproductive and extra-role behaviours. Copyright © 2014 John Wiley & Sons, Ltd.

  15. Family and family therapy in the Netherlands.

    PubMed

    Wagenaar, Karin; Baars, Jan

    2012-04-01

    This article describes how families are functioning in the Netherlands, and how family therapy is used in mental healthcare. In the open Dutch society, new ideas are easily incorporated, as exemplified by the rapid introduction and growth of family therapy in the 1980s. In recent decades, however, family therapy has lost ground to other treatment models that are more individually orientated, and adhere to stricter protocols. This decline of family therapy has been exacerbated by recent budget cuts in mental healthcare. In regular healthcare institutes family therapy now has a marginal position at best, although family treatment models are used in specific areas such as forensic treatments. In addition, the higher trained family therapists have found their own niches to work with couples and families. We argue that a stronger position of family therapy would be beneficial for patients and for families, in order to counteract the strong individualization of Dutch society.

  16. Specialized transit and elderly, disabled, and families in poverty populations

    DOT National Transportation Integrated Search

    2001-03-01

    This report presents results of three separate listening sessions to identify the transportation accessibility issues for a target group of users: the elderly, the disabled, and families in poverty. The sessions revealed that the need for coordinated...

  17. Comparing Service Use of Early Head Start Families of Children with and without Disabilities

    ERIC Educational Resources Information Center

    Zajicek-Farber, Michaela L.; Wall, Shavaun M.; Kisker, Ellen E.; Luze, Gayle J.; Summers, Jean Ann

    2011-01-01

    The current study compared patterns of service utilization reported by Early Head Start (EHS) families of children with and without disabilities by secondary analysis of data from the longitudinal investigation of the effectiveness of EHS. Findings reveal comparable positive trends for both groups of families for receipt of services corresponding…

  18. Financial stress, parent functioning and adolescent problem behavior: an actor-partner interdependence approach to family stress processes in low-, middle-, and high-income families.

    PubMed

    Ponnet, Koen

    2014-10-01

    The family stress model proposes that financial stress experienced by parents is associated with problem behavior in adolescents. The present study applied an actor-partner interdependence approach to the family stress model and focused on low-, middle-, and high-income families to broaden our understanding of the pathways by which the financial stress of mothers and fathers are related to adolescent outcomes. The study uses dyadic data (N = 798 heterosexual couples) from the Relationship between Mothers, Fathers and Children study in which two-parent families with an adolescent between 11 and 17 years of age participated. Path-analytic results indicated that in each of the families the association between parents' financial stress and problem behavior in adolescents is mediated through parents' depressive symptoms, interparental conflict, and positive parenting. Family stress processes also appear to operate in different ways for low-, middle-, and high-income families. In addition to a higher absolute level of financial stress in low-income families, financial stress experienced by mothers and fathers in these families had significant direct and indirect effects on problem behavior in adolescents, while in middle- and high-income families only significant indirect effects were found. The financial stress of a low-income mother also had a more detrimental impact on her level of depressive feelings than it had on mothers in middle-income families. Furthermore, the study revealed gender differences in the pathways of mothers and fathers. Implications for research, clinical practice, and policy are also discussed.

  19. Differential display cloning of a novel rat cDNA (RNB6) that shows high expression in the neonatal brain revealed a member of Ena/VASP family.

    PubMed

    Ohta, S; Mineta, T; Kimoto, M; Tabuchi, K

    1997-08-18

    We have used the differential display method to identify genes that control the neural cell development in CNS. Screening of the differential display bands that showed higher expression at neonate than at adult age enabled us to identify a novel rat cDNA (RNB6) coding for a protein of 393 amino acid residues. Database search revealed this gene as a rat homologue of the murine EVL, a member of Ena/VASP protein family that is implicated to be involved in the control of cell motility through actin filament assembly by their GP5 motifs. Although the precise characterization of EVL was not reported, our Northern blot and immunoblot analyses demonstrated that RNB6 expression in the brain gradually increases during embryonic development, reaches maximum at postnatal day 1 and decreases thereafter. Studies of tissue distribution revealed the expression of RNB6 not only in the brain but also in the spleen, thymus and testis. Histochemical analyses showed that RNB6 protein is mainly expressed in neurons and may be expressed in neural fibers. Our analyses suggest that RNB6 is critically involved in the development of CNS probably through the control of neural cell motility and/or including neuronal fiber extension.

  20. The influence of family on immigrant South Asian women's health.

    PubMed

    Grewal, Sukhdev; Bottorff, Joan L; Hilton, B Ann

    2005-08-01

    The purpose of this study was to examine the influence of family members on immigrant South Asian women's health and health-seeking behavior. This qualitative study was part of a larger study that examined the health-seeking practices of immigrant South Asian women living in the Lower Mainland of British Columbia, Canada. Using ethnographic methods, data were collected through face-to-face interviews with women who had lived in Canada for 10 months to 31 years. Analysis of translated and transcribed data revealed that women made decisions about their health in consultation with family members. Overall, family members were perceived to be supportive and provided direct and indirect assistance to women in ways that influenced their health. Expected roles and responsibilities often had detrimental influences on women's health. Health care for immigrant South Asian women needs to take into account women's relationships with family members and the influence of family on women's health.

  1. Asteroid family dynamics in the inner main belt

    NASA Astrophysics Data System (ADS)

    Dykhuis, Melissa Joy

    The inner main asteroid belt is an important source of near-Earth objects and terrestrial planet impactors; however, the dynamics and history of this region are challenging to understand, due to its high population density and the presence of multiple orbital resonances. This dissertation explores the properties of two of the most populous inner main belt family groups --- the Flora family and the Nysa-Polana complex --- investigating their memberships, ages, spin properties, collision dynamics, and range in orbital and reflectance parameters. Though diffuse, the family associated with asteroid (8) Flora dominates the inner main belt in terms of the extent of its members in orbital parameter space, resulting in its significant overlap with multiple neighboring families. This dissertation introduces a new method for membership determination (the core sample method) which enables the distinction of the Flora family from the background, permitting its further analysis. The Flora family is shown to have a signature in plots of semimajor axis vs. size consistent with that expected for a collisional family dispersed as a result of the Yarkovsky radiation effect. The family's age is determined from the Yarkovsky dispersion to be 950 My. Furthermore, a survey of the spin sense of 21 Flora-region asteroids, accomplished via a time-efficient modification of the epoch method for spin sense determination, confirms the single-collision Yarkovsky-dispersed model for the family's origin. The neighboring Nysa-Polana complex is the likely source region for many of the carbonaceous near-Earth asteroids, several of which are important targets for spacecraft reconnaissance and sample return missions. Family identification in the Nysa-Polana complex via the core sample method reveals two families associated with asteroid (135) Hertha, both with distinct age and reflectance properties. The larger of these two families demonstrates a correlation in semimajor axis and eccentricity

  2. Systemic family psychotherapy in China: a qualitative analysis of therapy process.

    PubMed

    Liu, Liang; Miller, John K; Zhao, Xudong; Ma, Xiquan; Wang, Jikun; Li, Wentian

    2013-12-01

    Although the procedure of systemic family therapy has been extensively researched in Western culture, few studies on this subject have been conducted in China. The aim of this study was to specify the therapy-delivered interventions in Chinese systemic family therapy and to explore how Western-imported systemic therapy model is delivered in Chinese culture. A qualitative and exploratory research approach was taken in which thematic analysis was used to analyse the transcribed psychotherapy videotapes with Chinese families. Twenty-six hours of video-recorded systemic family therapy sessions from 14 Chinese family cases were sampled. Thematic analysis was used to analyse the transcriptions of therapy sessions and identify therapist-generated interventions in therapy. Frequencies of different interventions were counted, and correspondence analysis (CA) was used to reveal the corresponding relationships between different interventions. Analysis led to two main themes related to therapists-delivered interventions: Therapist's intention and therapy technique. Results revealed 15 types of therapist's intentions and 16 categories of therapy techniques. CA indicated that therapists' intentions changed across different therapy stages and specific techniques were used to achieve corresponding intentions. Interventions delivered in Chinese systemic therapy are mainly adherent with Milan and post-Milan systemic models. Due to the shortage in systemic therapy service in China and Chinese culture advocating reverence to authority, components of psycho-education, guidance, and metaphor are adopted in Chinese systemic practice. Some directions for future research are suggested. © 2012 The British Psychological Society.

  3. Independence of familial transmission of mania and depression: results of the NIMH family study of affective spectrum disorders.

    PubMed

    Merikangas, K R; Cui, L; Heaton, L; Nakamura, E; Roca, C; Ding, J; Qin, H; Guo, W; Shugart, Y Y; Yao-Shugart, Y; Zarate, C; Angst, J

    2014-02-01

    The goal of this study is to investigate the familial transmission of the spectrum of bipolar disorder in a nonclinical sample of probands with a broad range of manifestations of mood disorders. The sample included a total of 447 probands recruited from a clinically enriched community screening and their 2082 adult living and deceased first-degree relatives. A best estimate diagnostic procedure that was based on either direct semistructured interview or structured family history information from multiple informants regarding non-interviewed relatives was employed. Results revealed that there was specificity of familial aggregation of bipolar I (BP I; odds ratio (OR)=8.40; 3.27-20.97; h2=0.83) and major depressive disorder (OR=2.26; 1.58-3.22; h2=0.20), but not BP II. The familial aggregation of BP I was primarily attributable to the familial specificity of manic episodes after adjusting for both proband and relative comorbid anxiety and substance use disorders. There was no significant cross-aggregation between mood disorder subtypes suggesting that the familial transmission of manic and major depressive episodes is independent despite the high magnitude of comorbidity between these mood states. These findings confirm those of earlier studies of the familial aggregation of bipolar disorder and major depression in the first nonclinical sample, and the largest family study of bipolar disorder in the USA using contemporary nonhierarchical diagnostic criteria for mood and anxiety disorders. The results suggest that these major components of bipolar disorder may represent distinct underlying pathways rather than increasingly severe manifestations of a common underlying diathesis. Therefore, dissection of the broad bipolar phenotype in genetic studies could actually generate new findings that could index novel biologic pathways underlying bipolar disorder.

  4. Comparative and functional triatomine genomics reveals reductions and expansions in insecticide resistance-related gene families.

    PubMed

    Traverso, Lucila; Lavore, Andrés; Sierra, Ivana; Palacio, Victorio; Martinez-Barnetche, Jesús; Latorre-Estivalis, José Manuel; Mougabure-Cueto, Gaston; Francini, Flavio; Lorenzo, Marcelo G; Rodríguez, Mario Henry; Ons, Sheila; Rivera-Pomar, Rolando V

    2017-02-01

    Triatomine insects are vectors of Trypanosoma cruzi, a protozoan parasite that is the causative agent of Chagas' disease. This is a neglected disease affecting approximately 8 million people in Latin America. The existence of diverse pyrethroid resistant populations of at least two species demonstrates the potential of triatomines to develop high levels of insecticide resistance. Therefore, the incorporation of strategies for resistance management is a main concern for vector control programs. Three enzymatic superfamilies are thought to mediate xenobiotic detoxification and resistance: Glutathione Transferases (GSTs), Cytochromes P450 (CYPs) and Carboxyl/Cholinesterases (CCEs). Improving our knowledge of key triatomine detoxification enzymes will strengthen our understanding of insecticide resistance processes in vectors of Chagas' disease. The discovery and description of detoxification gene superfamilies in normalized transcriptomes of three triatomine species: Triatoma dimidiata, Triatoma infestans and Triatoma pallidipennis is presented. Furthermore, a comparative analysis of these superfamilies among the triatomine transcriptomes and the genome of Rhodnius prolixus, also a triatomine vector of Chagas' disease, and other well-studied insect genomes was performed. The expression pattern of detoxification genes in R. prolixus transcriptomes from key organs was analyzed. The comparisons reveal gene expansions in Sigma class GSTs, CYP3 in CYP superfamily and clade E in CCE superfamily. Moreover, several CYP families identified in these triatomines have not yet been described in other insects. Conversely, several groups of insecticide resistance related enzymes within each enzyme superfamily are reduced or lacking in triatomines. Furthermore, our qRT-PCR results showed an increase in the expression of a CYP4 gene in a T. infestans population resistant to pyrethroids. These results could point to an involvement of metabolic detoxification mechanisms on the high

  5. Comparative and functional triatomine genomics reveals reductions and expansions in insecticide resistance-related gene families

    PubMed Central

    Traverso, Lucila; Lavore, Andrés; Sierra, Ivana; Palacio, Victorio; Martinez-Barnetche, Jesús; Latorre-Estivalis, José Manuel; Mougabure-Cueto, Gaston; Francini, Flavio; Lorenzo, Marcelo G.; Rodríguez, Mario Henry; Ons, Sheila; Rivera-Pomar, Rolando V.

    2017-01-01

    Background Triatomine insects are vectors of Trypanosoma cruzi, a protozoan parasite that is the causative agent of Chagas’ disease. This is a neglected disease affecting approximately 8 million people in Latin America. The existence of diverse pyrethroid resistant populations of at least two species demonstrates the potential of triatomines to develop high levels of insecticide resistance. Therefore, the incorporation of strategies for resistance management is a main concern for vector control programs. Three enzymatic superfamilies are thought to mediate xenobiotic detoxification and resistance: Glutathione Transferases (GSTs), Cytochromes P450 (CYPs) and Carboxyl/Cholinesterases (CCEs). Improving our knowledge of key triatomine detoxification enzymes will strengthen our understanding of insecticide resistance processes in vectors of Chagas’ disease. Methods and findings The discovery and description of detoxification gene superfamilies in normalized transcriptomes of three triatomine species: Triatoma dimidiata, Triatoma infestans and Triatoma pallidipennis is presented. Furthermore, a comparative analysis of these superfamilies among the triatomine transcriptomes and the genome of Rhodnius prolixus, also a triatomine vector of Chagas’ disease, and other well-studied insect genomes was performed. The expression pattern of detoxification genes in R. prolixus transcriptomes from key organs was analyzed. The comparisons reveal gene expansions in Sigma class GSTs, CYP3 in CYP superfamily and clade E in CCE superfamily. Moreover, several CYP families identified in these triatomines have not yet been described in other insects. Conversely, several groups of insecticide resistance related enzymes within each enzyme superfamily are reduced or lacking in triatomines. Furthermore, our qRT-PCR results showed an increase in the expression of a CYP4 gene in a T. infestans population resistant to pyrethroids. These results could point to an involvement of metabolic

  6. Female children with incarcerated adult family members at risk for life-long neurological decline

    PubMed Central

    Brewer-Smyth, Kathleen; Pohlig, Ryan T.; Bucurescu, Gabriel

    2016-01-01

    A secondary analysis of data from adult female prison inmates in the mid-Atlantic United States defined relationships between having incarcerated adult family members during childhood and neurological outcomes. Of 135 inmates, 99(73%) had one or more incarcerated adult family members during childhood. Regression analyses revealed that having incarcerated adult family members was related to greater frequency and severity of childhood abuse and higher incidence of neurological deficits in adulthood, especially related to traumatic brain injuries, compared to those without incarcerated adult family members. Along with being role models, adult family members impact the neurological health of children throughout their lifespan. PMID:26788781

  7. Validating the Construct of Coercion in Family Routines: Expanding the Unit of Analysis in Behavioral Assessment with Families of Children with Developmental Disabilities

    PubMed Central

    Lucyshyn, Joseph M.; Irvin, Larry K.; Blumberg, E. Richard; Laverty, Robelyn; Horner, Robert H.; Sprague, Jeffrey R.

    2015-01-01

    We conducted an observational study of parent-child interaction in home activity settings (routines) of families raising young children with developmental disabilities and problem behavior. Our aim was to empirically investigate the construct validity of coercion in typical but unsuccessful family routines. The long-term goal was to develop an expanded ecological unit of analysis that may contribute to sustainable behavioral family intervention. Ten children with autism and/or mental retardation and their families participated. Videotaped observations were conducted in typical but unsuccessful home routines. Parent-child interaction in routines was coded in real time and sequential analyses were conducted to test hypotheses about coercive processes. Following observation, families were interviewed about the social validity of the construct. Results confirmed the presence of statistically significant, attention-driven coercive processes in routines in which parents were occupied with non-child centered tasks. Results partially confirmed the presence of escape-driven coercive processes in routines in which parent demands are common. Additional analysis revealed an alternative pattern with greater magnitude. Family perspectives suggested the social validity of the construct. Results are discussed in terms of preliminary, partial evidence for coercive processes in routines of families of children with developmental disabilities. Implications for behavioral assessment and intervention design are discussed. PMID:26321883

  8. Family demands, social support and family functioning in Taiwanese families rearing children with Down syndrome.

    PubMed

    Hsiao, C-Y

    2014-06-01

    Down syndrome (DS) affects not only children but also their families. Much remains to be learned about factors that influence how families of children with DS function, especially families in non-Western populations. The purpose of this cross-sectional, correlational study was to examine how family demographics, family demands and social support relate to family functioning as well as the potential mediating effect of social support on the relationship between family demands and family functioning in Taiwanese families of children with DS. One hundred and fifty-five parents (80 mothers and 75 fathers) from 83 families independently completed mailed questionnaires. Data were analysed using a principal component analysis and mixed linear modelling. Families having older children with DS, greater parental education, higher family income, fewer family demands and greater social support contributed to healthier family functioning. Social support partially mediated the effects of family demands on family functioning. Family demographics, family demands and social support appear to be important factors that may play a critical role in how Taiwanese families respond to the birth of a child with DS. Care of children with DS and their families is likely to be more effective if professionals working with these families are aware of factors that contribute to healthy family functioning. © 2013 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

  9. A family with Wagner syndrome with uveitis and a new versican mutation

    PubMed Central

    Rothschild, Pierre-Raphaël; Brézin, Antoine P.; Nedelec, Brigitte; des Roziers, Cyril Burin; Ghiotti, Tiffany; Orhant, Lucie; Boimard, Mathieu

    2013-01-01

    Purpose To report the clinical and molecular findings of a kindred with Wagner syndrome (WS) revealed by intraocular inflammatory features. Methods Eight available family members underwent complete ophthalmologic examination, including laser flare cell meter measurements. Collagen, type II, alpha 1, versican (VCAN), frizzled family receptor 4, low density lipoprotein receptor-related protein 5, tetraspanin 12, and Norrie disease (pseudoglioma) genes were screened with direct sequencing. Results The index case was initially referred for unexplained severe and chronic postoperative bilateral uveitis following a standard cataract surgery procedure. Clinical examination of the proband revealed an optically empty vitreous with avascular vitreous strands and veils, features highly suggestive of WS. The systematic familial ophthalmologic examination identified three additional unsuspected affected family members who also presented with the WS phenotype, including uveitis for one of them. We identified a novel c.4004–6T>A nucleotide substitution at the acceptor splice site of intron 7 of the VCAN gene that segregated with the disease phenotype. Conclusions We present a family with WS with typical WS features and intraocular inflammatory manifestations associated with a novel splice site VCAN mutation. Beyond the structural role in the retinal-vitreous architecture, versican is also emerging as a pivotal mediator of the inflammatory response, supporting uveitis predisposition as a clinical manifestation of WS. PMID:24174867

  10. Vestibular function in families with inherited autosomal dominant hearing loss

    PubMed Central

    Street, Valerie A.; Kallman, Jeremy C.; Strombom, Paul D.; Bramhall, Naomi F.; Phillips, James O.

    2008-01-01

    The inner ear contains the developmentally related cochlea and peripheral vestibular labyrinth. Given the similar physiology between these two organs, hearing loss and vestibular dysfunction may be expected to occur simultaneously in individuals segregating mutations in inner ear genes. Twenty-two different genes have been discovered that when mutated lead to non-syndromic autosomal dominant hearing loss. A review of the literature indicates that families segregating mutations in 13 of these 22 genes have undergone formal clinical vestibular testing. Formal assessment revealed vestibular dysfunction in families with mutations in ten of these 13 genes. Remarkably, only families with mutations in the COCH and MYO7A genes self-report considerable vestibular challenges. Families segregating mutations in the other eight genes do not self-report significant balance problems and appear to compensate well in everyday life for vestibular deficits discovered during formal clinical vestibular assessment. An example of a family (referred to as the HL1 family) with progressive hearing loss and clinically-detected vestibular hypofunction that does not report vestibular symptoms is described in this review. Notably, one member of the HL1 family with clinically-detected vestibular hypofunction reached the summit of Mount Kilimanjaro. PMID:18776598

  11. Therapeutic Alliance and Retention in Brief Strategic Family Therapy: A Mixed-Methods Study.

    PubMed

    Sheehan, Alyson H; Friedlander, Myrna L

    2015-10-01

    We explored how the therapeutic alliance contributed to retention in Brief Strategic Family Therapy by analyzing videotapes of eight-first sessions in which four therapists worked with one family that stayed in treatment and one family that dropped out. Although behavioral exchange patterns between clients and therapists did not differ by retention status, positive therapist alliance-related behavior followed negative client alliance behavior somewhat more frequently in the retained cases. In the qualitative aspect of the study, four family therapy experts each viewed two randomly assigned sessions and commented on their quality without knowing the families' retention status. A qualitative analysis of the audiotaped commentaries revealed 18 alliance-related themes that were more characteristic of either the retained or the nonretained cases. © 2015 American Association for Marriage and Family Therapy.

  12. Parental drinking as a risk factor for children's maladjustment: the mediating role of family environment.

    PubMed

    Bijttebier, Patricia; Goethals, Eveline

    2006-06-01

    In the present study, the relationships among parental drinking, family environment, and child adjustment is investigated in a community sample of 207 10-14-year-olds. Multiple aspects of perceived family environment (e.g., cohesion, organization, conflict) as well as multiple indicators of adjustment (e.g., negative affect, feelings of competence, self-esteem) are taken into consideration. Parental alcohol problems are found to be associated with low family cohesion, poor family organization, and low global self-worth of the child. A mediational analysis reveals that the relation between parental drinking and low global self-worth is mediated by family cohesion.

  13. Identification a novel MYOC gene mutation in a Chinese family with juvenile-onset open angle glaucoma.

    PubMed

    Zhao, Xin; Yang, Chaoshan; Tong, Yi; Zhang, Xiaohui; Xu, Liang; Li, Yang

    2010-08-25

    To describe the clinical and genetic findings in one Chinese family with juvenile-onset open angle glaucoma (JOAG). One family was examined clinically and a follow-up took place 5 years later. After informed consent was obtained, genomic DNA was extracted from the venous blood of all participants. Linkage analysis was performed with three microsatellite markers around the MYOC gene (D1S196, D1S2815, and D1S218) in the family. Mutation screening of all coding exons of MYOC was performed by direct sequencing of PCR-amplified DNA fragments and restriction fragment length polymorphism (RFLP) analysis. Bioinformatics analysis by the Garnier-Osguthorpe-Robson (GOR) method predicted the effects of variants detected on secondary structures of the MYOC protein. Clinical examination and pedigree analysis revealed a three- generation family with seven members diagnosed with JOAG, three with ocular hypertension, and five normal individuals. Through genotyping, the pedigree showed a linkage to the MYOC on chromosome 1q24-25. Mutation screening of MYOC in this family revealed an A-->T transition at position 1348 (p. N450Y) of the cDNA sequence. This missense mutation co-segregated with the disease phenotype of the family, but was not found in 100 normal controls. Secondary structure prediction of the p.N450Y by the GOR method revealed the replacement of a coil with a beta sheet at the amino acid 447. Early onset JOAG, with incomplete penetrance, is consistent with a novel mutation in MYOC. The finding provides pre-symptomatic molecular diagnosis for the members of this family and is useful for further genetic consultation.

  14. The MPS1 family of protein kinases.

    PubMed

    Liu, Xuedong; Winey, Mark

    2012-01-01

    MPS1 protein kinases are found widely, but not ubiquitously, in eukaryotes. This family of potentially dual-specific protein kinases is among several that regulate a number of steps of mitosis. The most widely conserved MPS1 kinase functions involve activities at the kinetochore in both the chromosome attachment and the spindle checkpoint. MPS1 kinases also function at centrosomes. Beyond mitosis, MPS1 kinases have been implicated in development, cytokinesis, and several different signaling pathways. Family members are identified by virtue of a conserved C-terminal kinase domain, though the N-terminal domain is quite divergent. The kinase domain of the human enzyme has been crystallized, revealing an unusual ATP-binding pocket. The activity, level, and subcellular localization of Mps1 family members are tightly regulated during cell-cycle progression. The mitotic functions of Mps1 kinases and their overexpression in some tumors have prompted the identification of Mps1 inhibitors and their active development as anticancer drugs.

  15. The MPS1 Family of Protein Kinases

    PubMed Central

    Liu, Xuedong; Winey, Mark

    2014-01-01

    MPS1 protein kinases are found widely, but not ubiquitously, in eukaryotes. This family of potentially dual-specific protein kinases is among several that regulate a number of steps of mitosis. The most widely conserved MPS1 kinase functions involve activities at the kinetochore in both the chromosome attachment and the spindle checkpoint. MPS1 kinases also function at centrosomes. Beyond mitosis, MPS1 kinases have been implicated in development, cytokinesis, and several different signaling pathways. Family members are identified by virtue of a conserved C-terminal kinase domain, though the N-terminal domain is quite divergent. The kinase domain of the human enzyme has been crystallized, revealing an unusual ATP-binding pocket. The activity, level, and subcellular localization of Mps1 family members are tightly regulated during cell-cycle progression. The mitotic functions of Mps1 kinases and their overexpression in some tumors have prompted the identification of Mps1 inhibitors and their active development as anticancer drugs. PMID:22482908

  16. Family Functioning and Adolescent Psychological Maladjustment: The Mediating Role of Coping Strategies.

    PubMed

    Francisco, Rita; Loios, Sara; Pedro, Marta

    2016-10-01

    This study aims to analyze the mediating role of coping strategies in the relationship between family functioning and youth maladjustment. A community sample of 341 adolescents (M = 15.11 years old; SD = 1.71) completed self-report measures about such variables. Results showed that a perception of an inadequate family functioning was associated with the use of maladaptive coping strategies, as well as with youth psychological maladjustment. The results also revealed that rumination and support-seeking mediated the relationship between family functioning and internalizing behavior, and hostile expression of feelings played a mediating role between family functioning and externalizing behavior. No gender differences were found in the relationship between variables. This study emphasizes the importance of coping strategies used by adolescents to understand the relationship between family functioning and youth psychological maladjustment.

  17. Aging and creating families: Never-married heterosexual women over forty.

    PubMed

    McDill, Tandace; Hall, Sharon K; Turell, Susan C

    2006-01-01

    An examination of women over age forty who had never married was conducted. The women completed a structured questionnaire about their aging and their self-esteem was assessed with a standard measure. The participants were women from across the United States. Descriptive analyses of the data were ordered with ecological systems theory and findings revealed that the women are self-satisfied, socially productive and well adjusted with their single status and that singleness runs in their families. These women have defined what family means for them as they age-family of origin and close friendships. This description may be helpful in understanding this group as a social force and as role models for young women as they age.

  18. Managing family centered palliative care in aged and acute settings.

    PubMed

    Street, Annette Fay; Love, Anthony; Blackford, Jeanine

    2005-03-01

    This paper reports on the management of family centered palliative care in different aged care and acute Australian inpatient settings, following the integration of palliative care with mainstream services. Eighty-eight semistructured interviews were conducted and 425 questionnaires (Palliative Care Practices Questionnaire--PCPQ) were returned, completed from 12 regional and metropolitan locations. Transcribed interviews were analyzed using QSR NVivo and mean PCPQ scores from the four settings were compared. Scores on items from the PCPQ related to family centered care confirmed the analyses. Interviews revealed that factors contributing to the level of support for families offered in the various settings included the core business of the unit; the length of stay of the patients or residents; the acuity or symptom burden; and the coordinated involvement of the multidisciplinary team. Strategies for improving supportive family care are proposed.

  19. Familial auditory neuropathy.

    PubMed

    Wang, Qiuju; Gu, Rui; Han, Dongyi; Yang, Weiyan

    2003-09-01

    Auditory neuropathy is a sensorineural hearing disorder characterized by absent or abnormal auditory brainstem responses and normal cochlear outer hair cell function as measured by otoacoustic emission recordings. Many risk factors are thought to be involved in its etiology and pathophysiology. Four Chinese pedigrees with familial auditory neuropathy were presented to demonstrate involvement of genetic factors in the etiology of auditory neuropathy. Probands of the above-mentioned pedigrees, who had been diagnosed with auditory neuropathy, were evaluated and followed in the Department of Otolaryngology-Head and Neck Surgery, China People Liberation Army General Hospital (Beijing, China). Their family members were studied, and the pedigree maps established. History of illness, physical examination, pure-tone audiometry, acoustic reflex, auditory brainstem responses, and transient evoked and distortion-product otoacoustic emissions were obtained from members of these families. Some subjects received vestibular caloric testing, computed tomography scan of the temporal bone, and electrocardiography to exclude other possible neuropathic disorders. In most affected patients, hearing loss of various degrees and speech discrimination difficulties started at 10 to 16 years of age. Their audiological evaluation showed absence of acoustic reflex and auditory brainstem responses. As expected in auditory neuropathy, these patients exhibited near-normal cochlear outer hair cell function as shown in distortion product otoacoustic emission recordings. Pure-tone audiometry revealed hearing loss ranging from mild to profound in these patients. Different inheritance patterns were observed in the four families. In Pedigree I, 7 male patients were identified among 43 family members, exhibiting an X-linked recessive pattern. Affected brothers were found in Pedigrees II and III, whereas in pedigree IV, two sisters were affected. All the patients were otherwise normal without evidence of

  20. Social Skills and Family Climate of Behaviorally Disordered Adolescents.

    ERIC Educational Resources Information Center

    Margalit, Malka; And Others

    1988-01-01

    The social skills and family climate of 53 Israeli behaviorally disordered adolescents were compared to 56 nondisabled controls. Subjects viewed themselves as socially adequate, but viewed their skills as highly interrelated, whereas controls revealed a more differential concept. Subjects' teachers viewed them as less socially competent than…

  1. System Dynamics Model and Simulation of Employee Work-Family Conflict in the Construction Industry

    PubMed Central

    Wu, Guangdong; Duan, Kaifeng; Zuo, Jian; Yang, Jianlin; Wen, Shiping

    2016-01-01

    The construction industry is a demanding work environment where employees’ work-family conflict is particularly prominent. This conflict has a significant impact on job and family satisfaction and performance of employees. In order to analyze the dynamic evolution of construction industry employee’s work-family conflict between work and family domains, this paper constructs a bi-directional dynamic model framework of work-family conflict by referring to the relevant literature. Consequently, a system dynamics model of employee’s work-family conflict in the construction industry is established, and a simulation is conducted. The simulation results indicate that construction industry employees experience work interference with family conflict (WIFC) levels which are significantly greater than the family interference with work conflict (FIWC) levels. This study also revealed that improving work flexibility and organizational support can have a positive impact on the satisfaction and performance of construction industry employees from a work and family perspective. Furthermore, improving family support can only significantly improve employee job satisfaction. PMID:27801857

  2. System Dynamics Model and Simulation of Employee Work-Family Conflict in the Construction Industry.

    PubMed

    Wu, Guangdong; Duan, Kaifeng; Zuo, Jian; Yang, Jianlin; Wen, Shiping

    2016-10-28

    The construction industry is a demanding work environment where employees' work-family conflict is particularly prominent. This conflict has a significant impact on job and family satisfaction and performance of employees. In order to analyze the dynamic evolution of construction industry employee's work-family conflict between work and family domains, this paper constructs a bi-directional dynamic model framework of work-family conflict by referring to the relevant literature. Consequently, a system dynamics model of employee's work-family conflict in the construction industry is established, and a simulation is conducted. The simulation results indicate that construction industry employees experience work interference with family conflict (WIFC) levels which are significantly greater than the family interference with work conflict (FIWC) levels. This study also revealed that improving work flexibility and organizational support can have a positive impact on the satisfaction and performance of construction industry employees from a work and family perspective. Furthermore, improving family support can only significantly improve employee job satisfaction.

  3. Family functioning of child-rearing Japanese families on family-accompanied work assignments in Hong Kong.

    PubMed

    Hohashi, Naohiro; Honda, Junko

    2011-11-01

    Although the number of employees on overseas assignments accompanied by their families has increased steadily, little is known about the effects of this experience on family functioning. Japanese families on family-accompanied assignments living in Hong Kong were compared with families living in Japan (consisting of 135 and 248 paired partners, respectively). Applying an ecological framework, family functioning was examined using the Feetham Family Functioning Survey-Japanese (FFFS-J). Japanese wives living in Hong Kong rated family functioning lower, particularly in the area of "relationship between family and family members." Between paired marital partners living in Hong Kong, the level of satisfaction in the area of "relationship between family and society" was significantly lower for wives than for husbands. This study provides application of the family ecological framework in families in a multicultural environment and identifies potential areas for family assessment and intervention that may of interest to health care professionals who care for families living away from their home countries.

  4. Families and family therapy in Hong Kong.

    PubMed

    Tse, Samson; Ng, Roger M K; Tonsing, Kareen N; Ran, Maosheng

    2012-04-01

    Family therapy views humans not as separate entities, but as embedded in a network of relationships, highlighting the reciprocal influences of one's behaviours on one another. This article gives an overview of family demographics and the implementation of family therapy in Hong Kong. We start with a review of the family demographics in Hong Kong and brief notes on families in mainland China. Demographics show that the landscape has changed markedly in the past decade, with more cross-border marriages, an increased divorce rate, and an ageing overall population - all of which could mean that there is increasing demand for professional family therapy interventions. However, only a limited number of professionals are practising the systems-based approach in Hong Kong. Some possible reasons as to why family therapy is not well disseminated and practised are discussed. These reasons include a lack of mental health policy to support family therapy, a lack of systematic family therapy training, and a shortage of skilled professionals. Furthermore, challenges in applying the western model in Chinese culture are also outlined. We conclude that more future research is warranted to investigate how family therapy can be adapted for Chinese families.

  5. A model of work-family conflict and well-being among Malaysian working women.

    PubMed

    Aazami, Sanaz; Akmal, Syaqirah; Shamsuddin, Khadijah

    2015-01-01

    Work and family are the two most important domains in a person's life. Lack of balance between work and family can lead to adverse consequences such as psychological distress; however, the effect of work-family conflict on psychological distress might be mediated by job and family dissatisfaction. This study examines a model of the four dimensions of work-family conflict and their consequences on psychological distress. In particular, we test whether job and family satisfaction mediate the effect of the four dimensions of work-family conflict on psychological distress. This cross-sectional study was conducted among 567 Malaysian women who are working in the public services. Structural Equation Modeling confirmed the mediating role of family satisfaction in the effect of strain-based work interference into family and time-based family interference into work on psychological distress. In addition, our results revealed a significant path that links job to family satisfaction. Moreover, time-based work interference into family and strain-based family interference into work significantly and negatively affect job satisfaction, which in turn influence family satisfaction and eventually affect psychological distress. The results of our study show that organizations need to develop and adapt family friendly policies to mitigate level of employees' work-family conflict.

  6. The importance of family factors and generation status: mental health service use among Latino and Asian Americans.

    PubMed

    Chang, Janet; Natsuaki, Misaki N; Chen, Chih-Nan

    2013-07-01

    The present study utilized data from the National Latino and Asian American Study to examine ethnic and generational differences in family cultural conflict and family cohesion and how the effects of such family conflict and cohesion on lifetime service use vary by generation status for Latino Americans (n = 2,554) and Asian Americans (n = 2,095). Findings revealed that first-generation Asian Americans reported greater family cultural conflict than their Latino counterparts, but third-generation Latino Americans had higher family conflict than their Asian American counterparts. First-generation Latino and Asian Americans had the highest levels of family cohesion. Results from logistic regression analyses indicated that Latino Americans who reported higher family cultural conflict and lower family cohesion were more likely to use mental health services. For Asian Americans, family cultural conflict, but not family cohesion, was associated with service use. Relative to third-generation Asian Americans, second-generation Asian Americans with higher family cultural conflict were more likely to use mental health services. Given that cohesive familial bonds appear to discourage service use on the part of Latino Americans irrespective of generation status, further research is needed to ascertain the extent to which this tendency stems from greater reliance on family support as opposed to the stigma associated with mental health treatment. Mental health providers and treatment programs need to address the role of family cultural conflict in the lives of Asian Americans, particularly second generation, and Latino Americans across generations, because conflictual family ties may motivate help-seeking behaviors and reveal substantial underlying distress. PsycINFO Database Record (c) 2013 APA, all rights reserved.

  7. Was Your Glass Left Half Full? Family Dynamics and Optimism

    ERIC Educational Resources Information Center

    Buri, John R.; Gunty, Amy

    2008-01-01

    Students' levels of a frequently studied adaptive schema (optimism) as a function of parenting variables (parental authority, family intrusiveness, parental overprotection, parentification, parental psychological control, and parental nurturance) were investigated. Results revealed that positive parenting styles were positively related to the…

  8. Methodological issues in interviewing families in family nursing research.

    PubMed

    Astedt-Kurki, P; Paavilainen, E; Lehti, K

    2001-07-01

    The aim of this study is to discuss what methodological problems can be met in family research with one family member as an interviewee speaking on behalf of the whole family and, vice versa, what is the meaning of having multiple family members or the whole family unit as informants. Family nursing research is part of multidisciplinary research with families. It is a basis for family nursing and contributes to research, especially from the perspective of family welfare and its promotion. Family nursing research generates knowledge concerning families' and family members' wellbeing and experiences and expectations of nursing and health care. The examination of methodological problems while pursuing family research is based on two studies conducted in Finland. Quantitative methods add to the general knowledge of families. Qualitative methods are well suited to the study of family experiences. Family interviews performed for research purposes differ from interviews aiming at caring for families. They aim at obtaining knowledge of families on a general level so as to improve family nursing. Family research has to be looked at as a whole. It faces many challenges such as the definition of the family, gaining access, methods of data collection and data management. A family is a complex system and research with families need flexible, sensitive and practical methods. Family research should also aim at developing new methods for data collection and analysis.

  9. Psychological adjustment of Yoruba adolescents as influenced by family type: a research note.

    PubMed

    Oyefeso, A O; Adegoke, A R

    1992-05-01

    This research examines the influence of family type on the psychological adjustment of Yoruba adolescents. Using a sample of 116 adolescents, 69 males and 47 females, with mean age of 17.8 years of age (S.D. = 1.72), the results reveal that male adolescents from monogamous families experience better psychological adjustment than their polygynous counterparts, whereas no such difference exists in the levels of psychological adjustment of female adolescents from both family types. These findings suggest that (i) sex-role prescription influences psychological adjustment of adolescents in Yoruba societies, and (ii) female children enjoy more protective upbringing in polygynous families than their male counterparts.

  10. Health Coverage Instability for Mothers in Working Families

    ERIC Educational Resources Information Center

    Anderson, Steven G.; Eamon, Mary Keegan

    2004-01-01

    Using data from the National Longitudinal Survey of Youth, the authors examined the health insurance coverage stability of 1,667 women in working families over a three-year period (1995-1997). Findings revealed that coverage instability is common. Nearly one-half of low-income women experienced health coverage instability over the three-year study…

  11. Strengthening Families: Exploring the Impacts of Family Camp Experiences on Family Functioning and Parenting

    ERIC Educational Resources Information Center

    Garst, Barry A.; Baughman, Sarah; Franz, Nancy K.; Seidel, Richard W.

    2013-01-01

    Research suggests that family camp experiences can enhance family relationships. Families often participate in family camp experiences for a vacation, as part of a therapeutic and/or intervention strategy, or to gain general enrichment or engagement. To better understand the impacts of family camp experiences on family functioning, a mixed-methods…

  12. The Work-Family Conflict Scale (WAFCS): development and initial validation of a self-report measure of work-family conflict for use with parents.

    PubMed

    Haslam, Divna; Filus, Ania; Morawska, Alina; Sanders, Matthew R; Fletcher, Renee

    2015-06-01

    This paper outlines the development and validation of the Work-Family Conflict Scale (WAFCS) designed to measure work-to-family conflict (WFC) and family-to-work conflict (FWC) for use with parents of young children. An expert informant and consumer feedback approach was utilised to develop and refine 20 items, which were subjected to a rigorous validation process using two separate samples of parents of 2-12 year old children (n = 305 and n = 264). As a result of statistical analyses several items were dropped resulting in a brief 10-item scale comprising two subscales assessing theoretically distinct but related constructs: FWC (five items) and WFC (five items). Analyses revealed both subscales have good internal consistency, construct validity as well as concurrent and predictive validity. The results indicate the WAFCS is a promising brief measure for the assessment of work-family conflict in parents. Benefits of the measure as well as potential uses are discussed.

  13. Family interactions in adoptive compared to nonadoptive families.

    PubMed

    Rueter, Martha A; Keyes, Margaret A; Iacono, William G; McGue, Matt

    2009-02-01

    Despite the large and growing numbers of adoptive families, little research describes interactions in families with adopted adolescents. Yet, adopted adolescents' increased risk for adjustment problems, combined with the association between family interactions and adolescent adjustment in nonadoptive families, raises questions about differences in adoptive and nonadoptive family interactions. We compared observed and self-reported family interactions between 284 adoptive and 208 nonadoptive families and within 123 families with 1 adopted and 1 nonadopted adolescent. Adolescents averaged 14.9 years of age. Comparisons were made using analysis of variance incorporating hierarchical linear methods in SAS PROC MIXED to control family-related correlations in the data. Parents and children reported more conflict in adoptive families when compared with nonadoptive families. Families with 1 adopted and 1 nonadopted adolescent reported more conflict between parents and adopted adolescents. Observed parental behavior was similar across adoptive and nonadoptive children although adopted adolescents were less warm and, in families with 2 adopted children, more conflictual than nonadopted adolescents. These findings suggest a need for further investigation of the association between family interactions and adopted adolescent problem behavior. Copyright 2009 APA, all rights reserved.

  14. Family Interactions in Adoptive Compared to Nonadoptive Families

    PubMed Central

    Rueter, Martha A.; Keyes, Margaret A.; Iacono, William G.; McGue, Matt

    2009-01-01

    Despite the large and growing numbers of adoptive families, little research describes interactions in families with adopted adolescents. Yet, adopted adolescents’ increased risk for adjustment problems, combined with the association between family interactions and adolescent adjustment in nonadoptive families, raises questions about differences in adoptive and nonadoptive family interactions. We compared observed and self-reported family interactions between 284 adoptive and 208 nonadoptive families and within 123 families with 1 adopted and 1 nonadopted adolescent. Adolescents averaged 14.9 years of age. Comparisons were made using analysis of variance incorporating hierarchical linear methods in SAS PROC MIXED to control family-related correlations in the data. Parents and children reported more conflict in adoptive families when compared with nonadoptive families. Families with 1 adopted and 1 nonadopted adolescent reported more conflict between parents and adopted adolescents. Observed parental behavior was similar across adoptive and nonadoptive children although adopted adolescents were less warm and, in families with 2 adopted children, more conflictual than nonadopted adolescents. These findings suggest a need for further investigation of the association between family interactions and adopted adolescent problem behavior. PMID:19203160

  15. Waardenburg syndrome type I: Dental phenotypes and genetic analysis of an extended family.

    PubMed

    Sólia-Nasser, L; de Aquino, S-N; Paranaíba, L-M R; Gomes, A; Dos-Santos-Neto, P; Coletta, R-D; Cardoso, A-F; Frota, A-C; Martelli-Júnior, H

    2016-05-01

    The aim of this study was to describe the pattern of inheritance and the clinical features in a large family with Waardenburg syndrome type I (WS1), detailing the dental abnormalities and screening for PAX3 mutations. To characterize the pattern of inheritance and clinical features, 29 family members were evaluated by dermatologic, ophthalmologic, otorhinolaryngologic and orofacial examination. Molecular analysis of the PAX3 gene was performed. The pedigree of the family,including the last four generations, was constructed and revealed non-consanguineous marriages. Out of 29 descendants, 16 family members showed features of WS1, with 9 members showing two major criteria indicative of WS1. Five patients showed white forelock and iris hypopigmentation, and four showed dystopia canthorum and iris hypopigmentation. Two patients had hearing loss. Dental abnormalities were identified in three family members, including dental agenesis, conical teeth and taurodontism. Sequencing analysis failed to identify mutations in the PAX3 gene. These results confirm that WS1 was transmitted in this family in an autosomal dominant pattern with variable expressivity and high penetrance. The presence of dental manifestations, especially tooth agenesis and conical teeth which resulted in considerable aesthetic impact on affected individuals was a major clinical feature. This article reveals the presence of well-defined dental changes associated with WS1 and tries to establish a possible association between these two entities showing a new spectrum of WS1.

  16. Changes in Young Children’s Family Structures and Child Care Arrangements

    PubMed Central

    Crosnoe, Robert; Prickett, Kate Chambers; Smith, Chelsea; Cavanagh, Shannon

    2013-01-01

    Family structure change can disrupt the settings of children’s daily lives. Most scholarship focuses on disruption in the home environment. Moving beyond the home, this study explores the association between changes in family structure and changes in several dimensions of early child care. With longitudinal data from the NICHD Study of Early Child Care and Youth Development (n = 1,298), first-difference models reveal that family structure transitions are associated with changes in the type and quantity of early care as well as the number of care arrangements used, especially during the latter part of infancy. Given prior evidence linking these child care dimensions to behavioral and cognitive outcomes, these results suggest a policy-relevant mechanism by which family change may create inequalities among children. PMID:24243268

  17. From dioramas to the dinner table: An ethnographic case study of the role of science museums in family life

    NASA Astrophysics Data System (ADS)

    Ellenbogen, Kirsten M.

    What we know about learning in museums tends to come from studies of single museum visits evaluating success according to the museum's agenda, neglecting the impressive cooperative learning strategies and resources that families bring to their museum experiences. This is a report of an ethnographic case study of four families that visit science museums frequently. The study used ethnographic research and discourse analysis as combined methodological approaches, and was grounded in a sociocultural perspective that frames science as a socially and culturally constituted activity. Over eighteen months, data were collected during observations of the families in science museums, at home, and at other leisure sites. The study generated two types of findings. First, macroanalysis based on established frameworks for understanding learning in museums revealed differences in the orientation and extent of the museum visits. Additionally, a hierarchical framework for measuring science learning in museums proved insensitive. These findings underscore limitations of some of the traditional frameworks for understanding family learning in science museums. Second, microanalysis of interactions around science objects at home and in museums revealed that parents provided children with opportunities to understand the "middle ground" of science. Analysis also revealed that families adapted the science content of the museum to renegotiate family identities. Interestingly, the types of discourse most valued in science education were least important for establishing family identity. These frequent museumgoers eliminated the distance between them and science objects by transforming their meanings to establish family identity. This study demonstrates that the families' mediating strategies shape not just an understanding of science, but also a family identity that is constructed in and through interactions with science. The results of this study provide a foundation for examining how

  18. Sociocultural Mechanisms of Intergenerational Values and Mindset Translation in Modern Family Development and Generational Change

    ERIC Educational Resources Information Center

    Nemova, Olga A.; Retivina, Veronika V.; Kutepova, Lubov I.; Vinnikova, Irina S.; Kuznetsova, Ekaterina A.

    2016-01-01

    The paper considers the issue of functioning of the mechanism of formation and translation of values of labor in family. Fundamental labor values and main channels of their distribution are revealed based on empiric material. Family influence on motivation of today's Russian youth's labor behavior was determined. An intergenerational comparative…

  19. Kinship Support, Family Relations, and Psychological Adjustment among Low-Income African American Mothers and Adolescents

    ERIC Educational Resources Information Center

    Taylor, Ronald D.; Seaton, Eleanor; Dominguez, Antonio

    2008-01-01

    The association of kin social support with mothers' adjustment and family relations was assessed among 204 African American mothers and adolescents who were on average 14.45 years of age. Also examined was the association of mothers' adjustment with family relations and adolescents' adjustment. Findings revealed that kin social and emotional…

  20. The Family in Us: Family History, Family Identity and Self-Reproductive Adaptive Behavior.

    PubMed

    Ferring, Dieter

    2017-06-01

    This contribution is an essay about the notion of family identity reflecting shared significant experiences within a family system originating a set of signs used in social communication within and between families. Significant experiences are considered as experiences of events that have an immediate impact on the adaptation of the family in a given socio-ecological and cultural context at a given historical time. It is assumed that family history is stored in a shared "family memory" holding both implicit and explicit knowledge and exerting an influence on the behavior of each family member. This is described as transgenerational family memory being constituted of a system of meaningful signs. The crucial dimension underlying the logic of this essay are the ideas of adaptation as well as self-reproduction of systems.

  1. Cultural Systems and Lifestyles: The Impact of the Occupation of Shrimping on Family Life.

    ERIC Educational Resources Information Center

    Crumrine, Janice G.; Nix, Harold L.

    The findings of this second phase of a four-phase study of shrimp fishing focus on the effect of this occupation upon the family. Data were collected from a random sample of 87 boat captains, 73 wives, community personnel, and high school students in two Georgia coastal counties. The family structure reveals a traditional conception of male and…

  2. TGF-β Family Signaling in Embryonic and Somatic Stem Cell Renewal and Differentiation

    PubMed Central

    Mullen, Alan C.; Wrana, Jeffrey L.

    2017-01-01

    Soon after the discovery of Transforming Growth Factor-beta (TGF-β), seminal work in vertebrate and invertebrate models revealed the TGF-β family to be central regulators of tissue morphogenesis. Members of the family direct some of the earliest cell fate decisions in animal development, coordinate complex organogenesis and contribute to tissue homeostasis in the adult. Here we focus on the role of the TGF-β family in mammalian stem cell biology and discuss its wide and varied activities both in the regulation of pluripotency and in cell fate commitment. PMID:28108485

  3. Family resources study: part 1: family resources, family function and caregiver strain in childhood cancer

    PubMed Central

    2011-01-01

    Background Severe illness can disrupt family life, cause family dysfunction, strain resources, and cause caregiver burden. The family's ability to cope with crises depends on their resources. This study sought to assess families of children with cancer in terms of family function-dysfunction, family caregiver strain and the adequacy of family resources using a new family resources assessment instrument. Methods This is a cross-sectional study involving 90 Filipino family caregivers of children undergoing cancer treatment. This used a self-administered questionnaire composed of a new 12-item family resources questionnaire (SCREEM-RES) based on the SCREEM method of analysis, Family APGAR to assess family function-dysfunction; and Modified Caregiver Strain Index to assess strain in caring for the patient. Results More than half of families were either moderately or severely dysfunctional. Close to half of caregivers were either predisposed to strain or experienced severe strain, majority disclosed that their families have inadequate economic resources; many also report inaccessibility to medical help in the community and insufficient educational resources to understand and care for their patients. Resources most often reported as adequate were: family's faith and religion; help from within the family and from health providers. SCREEM-RES showed to be reliable with Cronbach's alpha of 0.80. There is good inter-item correlation between items in each domain: 0.24-0.70. Internal consistency reliability for each domain was also good: 0.40-0.92. Using 2-point scoring system, Cronbach's alpha were slightly lower: full scale (0.70) and for each domain 0.26-.82. Results showed evidence of association between family resources and family function based on the family APGAR but none between family resources and caregiver strain and between family function and caregiver strain. Conclusion Many Filipino families of children with cancer have inadequate resources, especially economic

  4. Family resources study: part 1: family resources, family function and caregiver strain in childhood cancer.

    PubMed

    Panganiban-Corales, Avegeille T; Medina, Manuel F

    2011-10-31

    Severe illness can disrupt family life, cause family dysfunction, strain resources, and cause caregiver burden. The family's ability to cope with crises depends on their resources. This study sought to assess families of children with cancer in terms of family function-dysfunction, family caregiver strain and the adequacy of family resources using a new family resources assessment instrument. This is a cross-sectional study involving 90 Filipino family caregivers of children undergoing cancer treatment. This used a self-administered questionnaire composed of a new 12-item family resources questionnaire (SCREEM-RES) based on the SCREEM method of analysis, Family APGAR to assess family function-dysfunction; and Modified Caregiver Strain Index to assess strain in caring for the patient. More than half of families were either moderately or severely dysfunctional. Close to half of caregivers were either predisposed to strain or experienced severe strain, majority disclosed that their families have inadequate economic resources; many also report inaccessibility to medical help in the community and insufficient educational resources to understand and care for their patients. Resources most often reported as adequate were: family's faith and religion; help from within the family and from health providers. SCREEM-RES showed to be reliable with Cronbach's alpha of 0.80. There is good inter-item correlation between items in each domain: 0.24-0.70. Internal consistency reliability for each domain was also good: 0.40-0.92. Using 2-point scoring system, Cronbach's alpha were slightly lower: full scale (0.70) and for each domain 0.26-.82. Results showed evidence of association between family resources and family function based on the family APGAR but none between family resources and caregiver strain and between family function and caregiver strain. Many Filipino families of children with cancer have inadequate resources, especially economic; and are moderately or severely

  5. Grandpaternal mosaicism in a family with isolated haemophilia A.

    PubMed

    Casey, G J; Rodgers, S E; Hall, J R; Rudzki, Z; Lloyd, J V

    1999-12-01

    About one third of cases of haemophilia A have no family history of the disorder, and 20% are thought to be due to a new mutation. In the family reported here, a 3 bp deletion was detected in DNA from the proband at the 3' end of exon 15. Direct sequencing of genomic DNA prepared from blood and buccal cells of the grandfather revealed both normal and mutant sequences, suggesting that he is a mosaic for this mutation. This highlights the usefulness of mutation detection, both for accurate genetic counselling and to determine the origin of new mutations of haemophilia.

  6. 24 CFR 982.515 - Family share: Family responsibility.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 24 Housing and Urban Development 4 2011-04-01 2011-04-01 false Family share: Family responsibility... Assistance Payment § 982.515 Family share: Family responsibility. (a) The family share is calculated by subtracting the amount of the housing assistance payment from the gross rent. (b) The family rent to owner is...

  7. 24 CFR 982.515 - Family share: Family responsibility.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 24 Housing and Urban Development 4 2010-04-01 2010-04-01 false Family share: Family responsibility... Assistance Payment § 982.515 Family share: Family responsibility. (a) The family share is calculated by subtracting the amount of the housing assistance payment from the gross rent. (b) The family rent to owner is...

  8. The Greek family system when a child has diabetes mellitus type 1.

    PubMed

    Tsamparli, A; Kounenou, K

    2004-12-01

    To depict the characteristic ways that families who have a child suffering from diabetes and face difficulties with metabolic control function. In addition, to reveal the ways that this functioning is related to metabolic control problems. Qualitative methods were used, including an in-depth interview and observation of 30 Greek families having one child suffering from diabetes mellitus type 1 and facing difficulties with metabolic control. An average of 10 meetings were conducted with each family, including separate meetings with each individual family member, the parental couple and the family as a whole. Methods were based on thematic categories provided by the model of the "psychosomatic family". The presence of the disease and the requirements of the treatment regimen seemed to be associated with certain family characteristics: enmeshed relationships, ambiguous roles and rules, break down of hierarchy, coalition between mother and patient, absence of father's involvement and "infantilization" of the suffering child. Also in such families, healthy siblings are assigned parental roles and, finally, the families present signs of social exclusion. The study provides important findings concerning the psychological characteristics of the families under study. The present ways of functioning are associated with the difficulties families face when coping with the treatment regimen.

  9. Genome structure drives patterns of gene family evolution in ciliates, a case study using Chilodonella uncinata (Protista, Ciliophora, Phyllopharyngea)

    PubMed Central

    Gao, Feng; Song, Weibo; Katz, Laura A.

    2014-01-01

    In most lineages, diversity among gene family members results from gene duplication followed by sequence divergence. Because of the genome rearrangements during the development of somatic nuclei, gene family evolution in ciliates involves more complex processes. Previous work on the ciliate Chilodonella uncinata revealed that macronuclear β-tubulin gene family members are generated by alternative processing, in which germline regions are alternatively used in multiple macronuclear chromosomes. To further study genome evolution in this ciliate, we analyzed its transcriptome and found that: 1) alternative processing is extensive among gene families; and 2) such gene families are likely to be C. uncinata-specific. We characterized additional macronuclear and micronuclear copies of one candidate alternatively processed gene family -- a protein kinase domain containing protein (PKc) -- from two C. uncinata strains. Analysis of the PKc sequences reveals: 1) multiple PKc gene family members in the macronucleus share some identical regions flanked by divergent regions; and 2) the shared identical regions are processed from a single micronuclear chromosome. We discuss analogous processes in lineages across the eukaryotic tree of life to provide further insights on the impact of genome structure on gene family evolution in eukaryotes. PMID:24749903

  10. Family Support Builds Stronger Families: The Roots of Family-Supportive Child Care

    ERIC Educational Resources Information Center

    Seiderman, Ethel

    2009-01-01

    Parent Services Project (PSP) is one model of family support that emerged from the heightened awareness of families' needs. Founded in 1980 to integrate family support into four San Francisco Bay Area early childhood programs, PSP since has spread to more than 800 organizations serving 30,000 families in Alaska, California, Delaware, Florida,…

  11. Managing routine food choices in UK families: the role of convenience consumption.

    PubMed

    Carrigan, Marylyn; Szmigin, Isabelle; Leek, Sheena

    2006-11-01

    The paper explores the meaning of convenience food for UK mothers, investigating the relationship between mothers and their families' food. The study examines the role of convenience food within the food strategies of contemporary UK families, and aims to elicit consumption meanings in the broader social context of family relationships with food, their rituals, routines and conventions. The findings reveal convenience has multiple meanings for UK women, and that convenience food has been incorporated into reinterpreted versions of homemade and "proper" meals. A hierarchy of acceptable convenience food is presented by the mothers, who tackle complex and conflicting family routines by introducing convenience solutions. Rules of eating have evolved, yet remain essentially controlled by the mother in terms of nutrition. While the traditional model of "proper" food remains aspirational, contemporary family lifestyles require that convenience food become part of the equation.

  12. Bioinformatic Analysis Reveals Conservation of Intrinsic Disorder in the Linker Sequences of Prokaryotic Dual-family Immunophilin Chaperones.

    PubMed

    Barik, Sailen

    2018-01-01

    The two classical immunophilin families, found essentially in all living cells, are: cyclophilin (CYN) and FK506-binding protein (FKBP). We previously reported a novel class of immunophilins that are natural chimera of these two, which we named dual-family immunophilin (DFI). The DFIs were found in either of two conformations: CYN-linker-FKBP (CFBP) or FKBP-3TPR-CYN (FCBP). While the 3TPR domain can serve as a flexible linker between the FKBP and CYN modules in the FCBP-type DFI, the linker sequences in the CFBP-type DFIs are relatively short, diverse in sequence, and contain no discernible motif or signature. Here, I present several lines of computational evidence that, regardless of their primary structure, these CFBP linkers are intrinsically disordered. This report provides the first molecular foundation for the model that the CFBP linker acts as an unstructured, flexible loop, allowing the two flanking chaperone modules function independently while linked in cis , likely to assist in the folding of multisubunit client complexes.

  13. In Their Own Words: Exploring Family Pathways to Housing Instability.

    PubMed

    Gultekin, Laura; Brush, Barbara L

    2017-02-01

    Housing instability threatens the health and well-being of millions of families across the United States, yet little is known about the characteristics or housing trajectories of at-risk families. To address this gap in our understanding of family risk for housing instability and homelessness, we undertook a qualitative descriptive study utilizing a convenience sample of 16 mothers recruited from a housing service agency living in Detroit and receiving emergency services to avoid homelessness. Participants completed the Brief Patient Health Questionnaire (PHQ), then narrated their life events and reasons for housing instability and disclosed desired interventions for homelessness prevention. Data analysis reveals that women experienced high rates of previously undisclosed trauma, broken family relationships, early parenting responsibilities, social isolation, and system failures that contributed to recurrent episodes of housing instability. We argue that housing instability is a symptom of multiple chronic underlying issues that need more than a temporary financial patch.

  14. Living with family: perceptions of health and subjective well-being of adults with an intellectual disability.

    PubMed

    Grey, J M; Totsika, V; Hastings, R P

    2018-06-01

    Little is known about the role of living circumstances to the perception of subjective well-being (SWB) and health of adults with intellectual disability (ID). The aim of the present study was to examine whether living circumstances impact differently on the perception of health and SWB and whether potential differences persist after accounting for other variables (e.g. level of support needs and reporting method). Secondary data analysis was undertaken of a large national survey of adults with an ID in England, aged 16 years and over. Participants were identified as living with family (N = 1528) or living out of home (N = 874). The results of t-test and chi-square revealed that levels of health and SWB were perceived as being higher for people living with family than those living in out-of-home settings. Multiple linear regression analyses fitted to explore factors associated with these reported differences revealed that, when controlling for other variables, living with family was highly associated with reports of better SWB. Multiple logistic regression revealed that whilst the health status of people living with families were perceived as better, this was only true when their support needs were low. Poorest health outcomes were found for people with highest support needs who lived with family. On the whole, the health and well-being of adults living with family were perceived more positively than those living out of home. However, potential health disparities exist for those with high support needs who live with family. Further longitudinal research is needed to explore causes and potential solution to these inequalities. © 2018 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

  15. Family identity: black-white interracial family health experience.

    PubMed

    Byrd, Marcia Marie; Garwick, Ann Williams

    2006-02-01

    The purpose of this interpretive descriptive study was to describe how eight Black-White couples with school-aged children constructed their interracial family identity through developmental transitions and interpreted race to their children. Within and across-case data analytic strategies were used to identify commonalities and variations in how Black men and White women in couple relationships formed their family identities over time. Coming together was the core theme described by the Black-White couples as they negotiated the process of forming a family identity. Four major tasks in the construction of interracial family identity emerged: (a) understanding and resolving family of origin chaos and turmoil, (b) transcending Black-White racial history, (c) articulating the interracial family's racial standpoint, and (d) explaining race to biracial children across the developmental stages. The findings guide family nurses in promoting family identity formation as a component of family health within the nurse-family partnership with Black-White mixed-race families.

  16. The effect of family sex composition on fertility desires and family planning behaviors in urban Uttar Pradesh, India.

    PubMed

    Calhoun, Lisa M; Nanda, Priya; Speizer, Ilene S; Jain, Meenakshi

    2013-09-11

    A cultural preference for sons has been well documented in India, resulting in skewed sex ratios, especially exhibited in northwest India. Previous research has shown that family sex composition is associated with family planning (FP) use and couples' desire for more children. This study examines family sex composition and fertility and FP behaviors in urban Uttar Pradesh, India; little work has examined these issues in urban settings where family sizes are smaller and FP use is common. Data for this analysis comes from a 2010 representative survey of married, non-pregnant fecund women aged 15-49 from six cities in Uttar Pradesh, India. Multivariate analyses are used to examine the association between family sex composition and fertility desires and FP use. The multivariate results indicate that family sex composition is associated with fertility desires and FP use. Women without living children and without at least one child of each sex are significantly less likely to want no more children and women with both sons and daughters but more sons are significantly more likely to want no more children as compared to women that have both sons and daughters but more daughters. Women with no living children and women with daughters but no sons are less likely to be modern FP users than nonusers whereas women with both sons and daughters but more sons are more likely to be modern FP users than nonusers as compared to women with both sons and daughters but more daughters. These findings confirm that family sex composition affects fertility behavior and also reveals that preference for sons persists in urban Uttar Pradesh. These results underscore the importance of programs and policies that work to enhance the value of girl children.

  17. The effect of family sex composition on fertility desires and family planning behaviors in urban Uttar Pradesh, India

    PubMed Central

    2013-01-01

    Background A cultural preference for sons has been well documented in India, resulting in skewed sex ratios, especially exhibited in northwest India. Previous research has shown that family sex composition is associated with family planning (FP) use and couples’ desire for more children. This study examines family sex composition and fertility and FP behaviors in urban Uttar Pradesh, India; little work has examined these issues in urban settings where family sizes are smaller and FP use is common. Methods Data for this analysis comes from a 2010 representative survey of married, non-pregnant fecund women aged 15–49 from six cities in Uttar Pradesh, India. Multivariate analyses are used to examine the association between family sex composition and fertility desires and FP use. Results The multivariate results indicate that family sex composition is associated with fertility desires and FP use. Women without living children and without at least one child of each sex are significantly less likely to want no more children and women with both sons and daughters but more sons are significantly more likely to want no more children as compared to women that have both sons and daughters but more daughters. Women with no living children and women with daughters but no sons are less likely to be modern FP users than nonusers whereas women with both sons and daughters but more sons are more likely to be modern FP users than nonusers as compared to women with both sons and daughters but more daughters. Conclusions These findings confirm that family sex composition affects fertility behavior and also reveals that preference for sons persists in urban Uttar Pradesh. These results underscore the importance of programs and policies that work to enhance the value of girl children. PMID:24025670

  18. Caregiving experiences of family members of persons with dementia in south India.

    PubMed

    Narayan, Suzanne M; Varghese, Mathew; Hepburn, Kenneth; Lewis, Marsha; Paul, Isabel; Bhimani, Rozina

    2015-08-01

    This study reports on the first phase of an investigation aimed at adapting The Savvy Caregiver program, a successful family caregiving curriculum developed in the United States, for application in South India. Thirty family members caring for a person with dementia were interviewed regarding their experiences as caregivers (CGs). Qualitative interviews were conducted with the family member at a geriatric clinic, while other diagnostic procedures were being carried out with the person with dementia. Findings from the study revealed that although family members understood the term CG, none could identify a word for CG in his or her language. There was little understanding of dementia as an illness. Family CGs reported feeling distressed, overwhelmed, and frustrated with caregiving. Caregivers were interested in an educational program, but many had unrealistic expectations for what they wanted to learn. The findings provide directions for adapting The Savvy Caregiver curriculum for Indian family CGs. © The Author(s) 2015.

  19. Experiences of college-age youths in families with a recessive genetic condition.

    PubMed

    Hern, Marcia J; Beery, Theresa A; Barry, Detrice G

    2006-05-01

    Growing up in a family with a recessive genetic condition can trigger questions about progeny effect. This study explored perceptions of family hardiness and information sharing by 18- to 21-year-olds about genetic risk. Semistructured interviews, the Family Hardiness Index (FHI), and a Family Information Sharing Analog Scale (FISAS) were used. Participants included 11 youths who had relatives with hemophilia and 4 with sickle cell anemia. Findings revealed seven themes: assimilating premature knowledge; caring for others, denying self; cautioning during development; experiencing continual sickness; feeling less than; magnifying transition experiences; and sustaining by faith. There was no significant correlation between total FHI and FISAS. However, there was a statistically significant difference in FISAS between genetic condition variance. Specifically, higher hardiness was found and information sharing correlated among college youths in families with hemophilia. Additional research can lead to nursing interventions to provide genetic information to youths in families for illness variance.

  20. Adolescents of the USA National Longitudinal Lesbian Family Study: can family characteristics counteract the negative effects of stigmatization?

    PubMed

    Bos, Henny; Gartrell, Nanette

    2010-12-01

    This investigation examines the impact of homophobic stigmatization on the well-being of 17-year-old adolescents who were conceived through donor insemination and whose mothers enrolled before they were born in the largest, longest-running, prospective study of lesbian families, with a 93% retention rate to date. The data for the current report were collected through questionnaires completed by the adolescents and their mothers. The adolescents (39 girls and 39 boys) were queried about family connection and compatibility. They were also asked to indicate if they had experienced discrimination based on their mothers' sexual orientation. Adolescent well-being was assessed through the parental report of the Child Behavior Checklist/6-18. Forty-one percent of the adolescents had experienced stigmatization based on homophobia. Hierarchical, multiple-regression analyses revealed that stigmatization was associated with more problem behavior in these adolescents, but that family compatibility neutralized this negative influence. The results indicate that adolescents who have close, positive relationships with their lesbian mothers demonstrate resilience in response to stigmatization. 2010 © FPI, Inc.

  1. Family planning uses traditional theater in Mali.

    PubMed

    Schubert, J

    1988-01-01

    Mali's branch of the International Planned Parenthood Federation has found a vehicle that effectively conveys the idea of family planning through the use of contraception, a method that blends the country's cultural heritage and modern technology. Despite becoming the first sub-Saharan francophone country to promote family planning, Mali only counted 1% of its population using a modern method of contraception. So with the aid of The Johns Hopkins University/Population COmmunication Services (JHU/PCS), the Association Malienne pour la Protection et la Promotion de la Famille (AMPPF) developed several programs to promote contraception, but none were more successful than the Koteba Project, which used Mali's traditional theater form to communicate the message. While comical, the Koteba generally deals with social issues -- it informs and entertains. This particular Koteba told the story of two government employees, one with two wives and many children, the other with one wife and few children. The first one sees nothing but family problems: fighting wives and delinquent children. The second one, who had used family planning, enjoys a peaceful home. Upon hearing of his friend's successes with family planning, the tormented government employee becomes convinced of its needs, and persuades his wives to accompany him to a family planning clinic. Developed at a cost of approximately US $3000 and televised nationwide, the Koteba proved effective. A survey of 500 people attending an AMPPF clinic revealed that 1/4 of them remembered the program. With the success of the Koteba, JHU/PCS and AMPPF are now exploring other traditional channels of communication.

  2. Small Families

    MedlinePlus

    ... Life Family Life Family Life Medical Home Family Dynamics Media Work & Play Getting Involved in Your Community ... Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care Communication & Discipline Types of Families ...

  3. The Nation and the Family: The Impact of National Identification and Perceived Importance of Family Values on Homophobic Attitudes in Lithuania and Scotland.

    PubMed

    Wakefield, Juliet R H; Kalinauskaite, Monika; Hopkins, Nick

    The meanings attached to the nation can be consequential for group members' attitudes and beliefs. We examined how national identity definition can influence the extent of individuals' homophobia with 159 Lithuanian and 176 Scottish university students who completed a questionnaire which measured their national identification, homophobia, and the extent to which they felt traditional family values were central to their nation's identity. Consistent with nation-wide differences in the significance given to the family, Lithuanian participants perceived family values to be more important for their national identity and expressed higher levels of homophobia than did Scottish participants. Moreover, the relationship between level of national identification and homophobia was stronger in Lithuania than in Scotland. Analyses revealed that the perceived importance of family values helped explain the difference between homophobia levels in Lithuania and Scotland. In both sites we found an indirect effect of national identification on homophobia via the perceived importance of family values, but this effect was significantly stronger for Lithuanian participants. These findings illustrate the ways in which identification with the nation is relevant to attitudes concerning sexuality, and how this varies according to national context. Our work indicates that LGBT rights campaigns should be informed by the knowledge that homophobia may be perpetuated by national valorisation of the family.

  4. Idiopathic hypersomnia: a report of three adolescent-onset cases in a two-generation family.

    PubMed

    Janácková, Sona; Motte, Jacques; Bakchine, Serge; Sforza, Emilia

    2011-04-01

    Idiopathic hypersomnia is an uncommon sleep disorder characterized by prolonged sleep time and excessive daytime sleepiness without cataplexy. This study concerned a case of familial occurrence. The proband expressed an idiopathic hypersomnia with long sleep time at the age of 12 years. Clinical interview and ad libitum polysomnographic study did not reveal any symptoms of narcolepsy or other sleep disorders. Family history revealed that a 20-year-old sister had experienced symptoms of hypersomnia from the age of 16 and their mother had been diagnosed with idiopathic hypersomnia previously. The diagnosis of idiopathic hypersomnia with long sleep time was confirmed in the sister by clinical interview and ad libitum polysomnography. Human leukocyte antigen (HLA) did not reveal the DQB1-0602 phenotype in the proband and relatives. This report confirms the hypothesis of a genetic predisposition in idiopathic hypersomnia.

  5. SUI-family genes encode phosphatidylserine synthases and regulate stem development in rice.

    PubMed

    Yin, Hengfu; Gao, Peng; Liu, Chengwu; Yang, Jun; Liu, Zhongchi; Luo, Da

    2013-01-01

    In vascular plants, the regulation of stem cell niche determines development of aerial shoot which consists of stems and lateral organs. Intercalary meristem (IM) controls internode elongation in rice and other grasses, however little attention has been paid to the underlying mechanism of stem cell maintenance. Here, we investigated the stem development in rice and showed that the Shortened Uppermost Internode 1 (SUI1) family of genes are pivotal for development of rice stems. We demonstrated that SUI-family genes regulate the development of IM for internode elongation and also the cell expansion of the panicle stem rachis in rice. The SUI-family genes encoded base-exchange types of phosphatidylserine synthases (PSSs), which possessed enzymatic activity in a yeast complementary assay. Overexpression of SUI1 and SUI2 caused outgrowths of internodes during vegetative development, and we showed that expression patterns of Oryza Sativa Homeobox 15 (OSH15) and Histone4 were impaired. Furthermore, genome-wide gene expression analysis revealed that overexpression and RNA knockdown of SUI-family genes affected downstream gene expression related to phospholipid metabolic pathways. Moreover, using Ultra-performance liquid chromatography-quadrupole time of flight-mass spectrometry, we analyzed PS contents in different genetic backgrounds of rice and showed that the quantity of very long chain fatty acids PS is affected by transgene of SUI-family genes. Our study reveals a new mechanism conveyed by the SUI1 pathway and provides evidence to link lipid metabolism with plant stem cell maintenance.

  6. Older Persons' Experiences of Depressive Ill-Health and Family Support

    PubMed Central

    Lyberg, Anne; Holm, Anne Lise; Lassenius, Erna; Berggren, Ingela; Severinsson, Elisabeth

    2013-01-01

    The aim of this study was to explore experiences of the meaning of family support among older persons with depressive ill-health. Data were collected from twenty-nine participants through semistructured interviews and analysed using interpretative hermeneutic and reflective methodology. The findings revealed a main theme, hovering between feelings of belongingness and aloneness in relationships with family members, based on two themes: a sense of being worthy and a sense of being unworthy. Experiences of support and lack of support from family members were not opposites but connected in internal relationships and can be pictured as a movement on a continuum of ambiguity. Family support promotes the emotional needs of older persons with depressive ill-health to be confirmed. The family plays a vital role, not always by direct assistance, but indirectly by supporting the older person's own “guiding principles” for managing her/his situation. The feelings of aloneness as well as shame and guilt at poor or absent family responsiveness should be adequately addressed. Innovative nursing care can lead to improvement by focusing on acquiescence to the older person's life situation. PMID:24078871

  7. Molecular genetic analysis of consanguineous Pakistani families with autosomal recessive hypohidrotic ectodermal dysplasia.

    PubMed

    Bibi, Nosheen; Ahmad, Saeed; Ahmad, Wasim; Naeem, Muhammad

    2011-02-01

    Hypohidrotic ectodermal dysplasia is an inherited disorder characterized by defective development of teeth, hairs and sweat glands. X-linked hypohidrotic ectodermal dysplasia is caused by mutations in the EDA gene, and autosomal forms of hypohidrotic ectodermal dysplasia are caused by mutations in either the EDAR or the EDARADD genes. To study the molecular genetic cause of autosomal recessive hypohidrotic ectodermal dysplasia in three consanguineous Pakistani families (A, B and C), genotyping of 13 individuals was carried out by using polymorphic microsatellite markers that are closely linked to the EDAR gene on chromosome 2q11-q13 and the EDARADD gene on chromosome 1q42.2-q43. The results revealed linkage in the three families to the EDAR locus. Sequence analysis of the coding exons and splice junctions of the EDAR gene revealed two mutations: a novel non-sense mutation (p.E124X) in the probands of families A and B and a missense mutation (p.G382S) in the proband of family C. In addition, two synonymous single-nucleotide polymorphisms were also identified. The finding of mutations in Pakistani families extends the body of evidence that supports the importance of EDAR for the development of hypohidrotic ectodermal dysplasia. © 2010 The Authors. Australasian Journal of Dermatology © 2010 The Australasian College of Dermatologists.

  8. Family Life across the Border: Mexican Wives Left Behind.

    ERIC Educational Resources Information Center

    Salgado de Snyder, V. Nelly

    1993-01-01

    A comprehensive psychosocial investigation of 202 Mexican women who had never been out of Mexico and who were married to immigrant workers in the United States revealed that the women experienced stress associated with the welfare of the absent husband, acquisition of new responsibilities and obligations, and family disintegration. (KS)

  9. The influence of perceived family support on post surgery recovery.

    PubMed

    Cardoso-Moreno, M J; Tomás-Aragones, L

    2017-01-01

    The objective of this work was to investigate the possible relationship between perceived family support, levels of cortisol and post surgery recovery. The study sample comprised 42 patients that were due to undergo open cholecystectomy surgery in a Regional Health Authority Reference Centre of the Autonomous Community of Extremadura in Spain. The FACES-II questionnaire was used for the evaluation of perceived family support and to measure the three fundamental dimensions of perceived family behaviour: cohesion, adaptability and family type. The day before surgery, a sample of saliva was taken from each subject in order to determine the level of cortisol. Results showed a clear relationship between family support and recovery. Patients with higher scores on the Cohesion Scale demonstrated better post surgery recovery (F = 8.8; gl = 40; p = .005). A relationship between levels of cortisol, perceived family support and recovery was also revealed. Patients with lower scores on the Cohesion scale and higher cortisol levels demonstrated poorer post surgery recovery (F = 10.96; gl = 40; p = .006). These results are coherent with other studies that have highlighted the beneficial effects of perceived family support on mental and physical health.

  10. Women in orthodontics and work-family balance: challenges and strategies.

    PubMed

    Davidson, Sarah; Major, Paul W; Flores-Mir, Carlos; Amin, Maryam; Keenan, Louanne

    2012-01-01

    The number of women entering the orthodontic profession over the past few decades has increased dramatically. A review of the literature revealed the lack of research on achieving a work-family balance among female dentists and dental specialists. Work-family balance has been researched more extensively in the field of medicine; however, despite some critical differences, parallels between these 2 professions exist. This study identified issues that Canadian female orthodontists face and strategies they use to achieve a work-family balance. A phenomenological qualitative study was used to analyze the results of semi-structured telephone interviews of a purposive sample of 13 Canadian female orthodontists. The results strongly support the role-conflict theory about the competing pressures of maternal and professional roles. Female orthodontists described their challenges and strategies to minimize role conflict in their attempt to achieve a work-family balance. The women defined balance as having success and satisfaction in both their family life and professional life. They identified specific challenges of achieving a work-family balance that are unique to orthodontic practice and strategies for adapting to their maternal and professional roles. Achieving a work-family balance is of paramount importance to female orthodontists, and the results of this study may be applied to other specialties in dentistry.

  11. Work, family, support, and depression: employed mothers in Israel, Korea, and the United States.

    PubMed

    O'Brien, Karen M; Ganginis Del Pino, Heather V; Yoo, Sung-Kyung; Cinamon, Rachel Gali; Han, Young-Joo

    2014-07-01

    Our research revealed differences in work-family constructs for employed mothers in 3 countries, Israel (N = 105), Korea (N = 298), and the United States (N = 305). Although levels of work-family conflict were comparable, the Korean women had the lowest levels of work-family enrichment compared with the Israeli and American mothers. Moreover, Korean women reported the most depression and the least support from both spouses and employers. Spousal support mediated the relationship between work-family conflict and depression for employed mothers in Israel, Korea, and the United States. As hypothesized by conservation of resources theory (Hobfoll, 1989, 1998, 2001), threat of resource loss (operationalized as work-family conflict) was related to depression more strongly than was resource gain (i.e., work-family enrichment). PsycINFO Database Record (c) 2014 APA, all rights reserved.

  12. Work-family conflict and sleep disturbance: the Malaysian working women study

    PubMed Central

    AAZAMI, Sanaz; MOZAFARI, Mosayeb; SHAMSUDDIN, Khadijah; AKMAL, Syaqirah

    2015-01-01

    This study aimed at assessing effect of the four dimensions of work-family conflicts (strain and time-based work interference into family and family interference into work) on sleep disturbance in Malaysian working women. This cross-sectional study was conducted among 325 Malaysian married working women. Multiple-stage simple random sampling method was used to recruit women from public service departments of Malaysia. Self-administrated questionnaires were used to measure the study variables and data were analyzed using SPSS version 21. We found that high level of the four dimensions of work-family conflicts significantly increase sleep disturbance. Our analyses also revealed an age-dependent effect of the work-family conflict on sleep disturbance. Women in their 20 to 30 yr old suffer from sleep disturbance due to high level of time-based and strain-based work-interference into family. However, the quality of sleep among women aged 30–39 were affected by strain-based family-interference into work. Finally, women older than 40 yr had significantly disturbed sleep due to strain-based work-interference into family as well as time-based family interference into work. Our findings showed that sleep quality of working women might be disturbed by experiencing high level of work-family conflict. However, the effects of inter-role conflicts on sleep varied among different age groups. PMID:26423332

  13. Work-family conflict and sleep disturbance: the Malaysian working women study.

    PubMed

    Aazami, Sanaz; Mozafari, Mosayeb; Shamsuddin, Khadijah; Akmal, Syaqirah

    2016-01-01

    This study aimed at assessing effect of the four dimensions of work-family conflicts (strain and time-based work interference into family and family interference into work) on sleep disturbance in Malaysian working women. This cross-sectional study was conducted among 325 Malaysian married working women. Multiple-stage simple random sampling method was used to recruit women from public service departments of Malaysia. Self-administrated questionnaires were used to measure the study variables and data were analyzed using SPSS version 21. We found that high level of the four dimensions of work-family conflicts significantly increase sleep disturbance. Our analyses also revealed an age-dependent effect of the work-family conflict on sleep disturbance. Women in their 20 to 30 yr old suffer from sleep disturbance due to high level of time-based and strain-based work-interference into family. However, the quality of sleep among women aged 30-39 were affected by strain-based family-interference into work. Finally, women older than 40 yr had significantly disturbed sleep due to strain-based work-interference into family as well as time-based family interference into work. Our findings showed that sleep quality of working women might be disturbed by experiencing high level of work-family conflict. However, the effects of inter-role conflicts on sleep varied among different age groups.

  14. Family Instability and Early Initiation of Sexual Activity in Western Kenya

    PubMed Central

    2014-01-01

    Epidemiological, economic, and social forces have produced high levels of volatility in family and household structure for young people growing up in sub-Saharan Africa in recent decades. However, scholarship on the family to date has not examined the influence of this family instability on young people’s well-being. The current study employs unique life history calendar data from Western Kenya to investigate the relationship between instability in caregiving and early initiation of sexual activity. It draws on a body of work on parental union instability in the United States, and examines new dimensions of family change. Analyses reveal a positive association between transitions in primary caregiver and the likelihood of early sexual debut that is rapidly manifested following caregiver change and persists for a short period. The association is strongest at early ages, and there is a cumulative effect of multiple caregiver changes. The results highlight the importance of studying family stability in sub-Saharan Africa, as distinct from family structure, and for attention to dimensions such as age and recency. PMID:23055236

  15. Results of the 2014 National Resident Matching Program®: family medicine.

    PubMed

    Kozakowski, Stanley M; Crosley, Philip W; Bentley, Ashley

    2014-10-01

    The 2014 National Residency Matching Program® results reveal that the number of family medicine positions offered in the Match® by programs accredited by the Accreditation Council on Graduate Medical Education has increased compared to 2013 (3,132 versus 3,062), while the total of all other primary care specialties combined has remained unchanged (784). The number of US seniors matching into family medicine also increased in 2014 over the prior year (1,416 versus 1,374). The percentage of US seniors who matched into family medicine programs grew modestly in 2014 compared to 2013 (8.6% versus 8.4%). Approximately four out of five primary care positions offered in the Match are in family medicine residency programs (3,132 versus 784). Similarly, three out of four US seniors matching into a primary care specialty match into a family medicine program (1,416 versus 520). By way of comparison, nearly five times the number of US seniors matched into family medicine as compared to medicine-pediatrics, the next largest primary care specialty.

  16. Impact of critical illness news on the family: hermeneutic phenomenological study.

    PubMed

    Mendes, Anabela Pereira

    2018-01-01

    Understand the impact of critical-illness news on the experience of family members at an Intensive Care Unit. Phenomenological approach according to Van Manen's method. Open interviews were held with 21 family members. From analysis and interpretation of the data, three essential themes were identified: the unexpected; the pronouncement of death; and the impact on self-caring within the family. The study complied with the ethical principles inherent to research involving humans. The unexpected news and death of the sick person influence the well-being and self-care of family members, affecting their ability for analysis and decision making. It was observed that the family experiences the news with suffering, mainly due to the anticipation arising from the events. The humanity of nurses was revealed in response to the needs of the family. In view of the requirements for information, it was verified that the information transmitted allowed them to become aware of themselves, to become empowered in their daily lives and to alleviate the emotional burden experienced.

  17. Family instability and early initiation of sexual activity in Western Kenya.

    PubMed

    Goldberg, Rachel E

    2013-04-01

    Epidemiological, economic, and social forces have produced high levels of volatility in family and household structure for young people growing up in sub-Saharan Africa in recent decades. However, scholarship on the family to date has not examined the influence of this family instability on young people's well-being. The current study employs unique life history calendar data from Western Kenya to investigate the relationship between instability in caregiving and early initiation of sexual activity. It draws on a body of work on parental union instability in the United States, and examines new dimensions of family change. Analyses reveal a positive association between transitions in primary caregiver and the likelihood of early sexual debut that is rapidly manifested following caregiver change and persists for a short period. The association is strongest at early ages, and there is a cumulative effect of multiple caregiver changes. The results highlight the importance of studying family stability in sub-Saharan Africa, as distinct from family structure, and for attention to dimensions such as age and recency.

  18. The efficacy of family reunification practices: reentry rates and correlates of reentry for abused and neglected children reunited with their families.

    PubMed

    Terling, T

    1999-12-01

    Since the 1980s Child Protective Services has increasingly relied on family reunification for abused/neglected children rather than long term foster care or adoption. While family reunification practices are controversial, little research is available to inform the debate. This research explores the efficacy of these practices. This study utilizes two CPS data sources and both quantitative and qualitative methodologies to identify reentry rates and correlates of reentry for abused and neglected children returned to their families by CPS. System reentry due to additional maltreatment is considerable. Thirty-seven percent of the children reunited with their families reenter the system within 3 1/2 years. Correlates of reentry are identified as; abuse type, CPS history, parental competency, race, criminal history, substance abuse, and social support. Notably, assessments of risk made by caseworkers are found to be unrelated to reentry. The high reentry rate and the limitations of current risk assessment procedures suggest that CPS family reunification practices have not been entirely successful. The identification of specific risks of reentry, such as those revealed in this study, will be helpful in assessing risk on cases. In addition, future studies should explore the systemic deficiencies that contribute to the additional maltreatment that occurs for a sizable proportion of the children served by the system.

  19. Family First? The Costs and Benefits of Family Centrality for Adolescents with High-Conflict Families.

    PubMed

    Yuen, Cynthia X; Fuligni, Andrew J; Gonzales, Nancy; Telzer, Eva H

    2018-02-01

    Youth who do not identify with or value their families (i.e., low family centrality) are considered to be at risk for maladjustment. However, the current study investigated whether low family centrality may be adaptive in negative family contexts (i.e., high family conflict) because youth's self-worth should be less tied to the quality of their family relationships. Multilevel models using daily diaries and latent variable interactions using longitudinal questionnaires indicated that, among a sample of 428 Mexican American adolescents (49.8% male, M age  = 15.02 years), lower family centrality was generally detrimental to youth's well-being. However, for youth in adverse family environments, low family centrality ceased to function as a risk factor. The present findings suggest that family centrality values play a more nuanced role in youth well-being than previously believed, such that low family centrality may be an adaptive response to significant family challenges.

  20. [Cerebral and ocular abnormalities with anterior pituitary insufficiency of familial nature].

    PubMed

    Weill, J; Boudailliez, B; Piussan, C; Ponte, C

    1985-01-01

    Three families presenting one or several cases of brain or ophthalmic abnormalities and an hypopituitarism at least by one of the members have been observed. In the first family, the mother and one of her sons present bilateral choroidoretineal coloboma with amblyopia; one of these two suffers as well from panhypopituitarism. In the second family two premature twins, a brother and his sister, present a syndrome with hypophyseal dwarfism and ophthalmic abnormalities, consisting in the boy's case in an peripapillary depigmentation with no visible sight trouble whereas girl's is showing an extreme microphthalmia with major mental retardation. In the third family two 2nd degree cousins present a panhypopituitarism but only one of the two reveals through neuroradiological investigations corpus callosum and septum lucidum agenesia. The karyotype is normal in all the cases. An hereditary mechanism appears clearly in the first family. It is possible in the second, probable in the third one.

  1. Experiences of family members of patients with colostomies and expectations about professional intervention

    PubMed Central

    Ferreira-Umpiérrez, Augusto; Fort-Fort, Zoraida

    2014-01-01

    Objective the objective was to understand the experience of a group of family members of patients with colostomies, revealing their expectations regarding the intervention of health professionals. Method qualitative research, with the social phenomenological approach of Alfred Schütz, conducted in Montevideo in 2012; twelve family members of patients with colostomies participated, from an ostomy service of a health institution. Results the following categories were identified: family ties, trust in the health care team, the nurse as the articulator of the process, the desire to humanize care, and adaptation to new family life. Conclusions knowing the experience and expectations of the families of colostomy patients was achieved, emphasizing the previous family relationships to build upon them, and the trust in the health team, emphasizing the nurse as articulator of the process. Expectations focused on the desire for humanized care, enhancing adaptation of the nuclear family to the new way of life, restoring and enhancing its strengths, and collaborating in overcoming its weaknesses. PMID:26107831

  2. Evolutionary medicine: update on the relevance to family practice.

    PubMed

    Naugler, Christopher T

    2008-09-01

    To review the relevance of evolutionary medicine to family practice and family physician training. Articles were located through a MEDLINE search, using the key words evolution, Darwin, and adaptation. Most references presented level III evidence (expert opinion), while a minority provided level II evidence (epidemiologic studies). Evolutionary medicine deals with the interplay of biology and the environment in the understanding of human disease. Yet medical schools have virtually ignored the need for family physicians to have more than a cursory knowledge of this topic. A review of the main trends in this field most relevant to family practice revealed that a basic knowledge of evolutionary medicine might help in explaining the causation of diseases to patients. Evolutionary medicine has also proven key to explaining the reasons for the development of antibiotic resistance and has the potential to explain cancer pathogenesis. As an organizing principle, this field also has potential in the teaching of family medicine. Evolutionary medicine should be studied further and incorporated into medical training and practice. Its practical utility will be proven through the generation of testable hypotheses and their application in relation to disease causation and possible prevention.

  3. Neighborhood, Family and Individual Influences on School Physical Victimization

    PubMed Central

    Brooks-Gunn, Jeanne

    2013-01-01

    Few studies on the correlates of school violence include school and neighborhood influences. We use ecological systems theory and social disorganization theory to simultaneously incorporate neighborhood (e.g., concentrated poverty, residential instability, and immigrant concentration), school, family, and individual predictors of physical school victimization longitudinally among a large socio-economically and ethnically diverse (49% Hispanic; 34% African American) sample of 6 and 9 year olds (49% female) from the Project on Human Development in Chicago Neighborhoods (PHDCN). These children were followed up at Wave II at ages 8 and 11 (n=1425). Results of Hierarchical Generalized Linear Models reveal neighborhood residential instability increases school victimization net of family and individual correlates. Furthermore, cross-level interactions were also supported where residential family mobility has a stronger risk influence in areas of high residential instability. Also, the influence of residential family mobility is decreased in areas with higher levels of immigrant concentration. We also found cross-context connections where parent-to-child aggression in the home is connected to a higher risk of victimization at school. The role of neighborhood and family residential instability on victimization warrants further research. PMID:23263822

  4. Treating conduct disorder: An effectiveness and natural language analysis study of a new family-centred intervention program.

    PubMed

    Stevens, Kimberly A; Ronan, Prof Kevin; Davies, Gene

    2017-05-01

    This paper reports on a new family-centred, feedback-informed intervention focused on evaluating therapeutic outcomes and language changes across treatment for conduct disorder (CD). The study included 26 youth and families from a larger randomised, controlled trial (Ronan et al., in preparation). Outcome measures reflected family functioning/youth compliance, delinquency, and family goal attainment. First- and last-treatment session audio files were transcribed into more than 286,000 words and evaluated through the Linguistic Inquiry and Word Count Analysis program (Pennebaker et al., 2007). Significant outcomes across family functioning/youth compliance, delinquency, goal attainment and word usage reflected moderate-strong effect sizes. Benchmarking findings also revealed reduced time of treatment delivery compared to a gold standard approach. Linguistic analysis revealed specific language changes across treatment. For caregivers, increased first person, action-oriented, present tense, and assent type words and decreased sadness words were found; for youth, significant reduction in use of leisure words. This study is the first using lexical analyses of natural language to assess change across treatment for conduct disordered youth and families. Such findings provided strong support for program tenets; others, more speculative support. Copyright © 2016. Published by Elsevier B.V.

  5. Giving birth and returning to work: the impact of work-family conflict on women's health after childbirth.

    PubMed

    Grice, Mira M; Feda, Denise; McGovern, Patricia; Alexander, Bruce H; McCaffrey, David; Ukestad, Laurie

    2007-10-01

    Since 1970, women of childbearing age have increasingly participated in the workforce. However, literature on work-family conflict has not specifically addressed the health of postpartum women. This study examined the relationship between work-family conflict and mental and physical health of employed mothers 11 weeks after childbirth. Employed women, 18 years and older, were recruited while in the hospital for childbirth (N = 817; 71% response rate). Mental and physical health at 11 weeks postpartum was measured using SF-12 version 2. General linear models estimated the associations between the independent variables and health. A priori causal models and directed acyclic graphs guided selection of confounding variables. Analyses revealed that high levels of work interference with family were associated with significantly lower mental health scores. Medium and high levels of family interference with work revealed a dose-response relationship resulting in significantly worse mental health scores. Coworker support was strongly and positively associated with better physical health. Work-family conflict was negatively associated with mental health but not significantly associated with physical health. Availability of social support may relieve the burden women can experience when balancing work roles and family obligations.

  6. Systematic Identification, Evolution and Expression Analysis of the Zea mays PHT1 Gene Family Reveals Several New Members Involved in Root Colonization by Arbuscular Mycorrhizal Fungi.

    PubMed

    Liu, Fang; Xu, Yunjian; Jiang, Huanhuan; Jiang, Chaosheng; Du, Yibin; Gong, Cheng; Wang, Wei; Zhu, Suwen; Han, Guomin; Cheng, Beijiu

    2016-06-13

    The Phosphate Transporter1 (PHT1) family of genes plays pivotal roles in the uptake of inorganic phosphate from soils. However, there is no comprehensive report on the PHT1 family in Zea mays based on the whole genome. In the present study, a total of 13 putative PHT1 genes (ZmPHT1;1 to 13) were identified in the inbred line B73 genome by bioinformatics methods. Then, their function was investigated by a yeast PHO84 mutant complementary experiment and qRT-PCR. Thirteen ZmPHT1 genes distributed on six chromosomes (1, 2, 5, 7, 8 and 10) were divided into two paralogues (Class A and Class B). ZmPHT1;1/ZmPHT1;9 and ZmPHT1;9/ZmPHT1;13 are produced from recent segmental duplication events. ZmPHT1;1/ZmPHT1;13 and ZmPHT1;8/ZmPHT1;10 are produced from early segmental duplication events. All 13 putative ZmPHT1s can completely or partly complement the yeast Pi-uptake mutant, and they were obviously induced in maize under low Pi conditions, except for ZmPHT1;1 (p < 0.01), indicating that the overwhelming majority of ZmPHT1 genes can respond to a low Pi condition. ZmPHT1;2, ZmPHT1;4, ZmPHT1;6, ZmPHT1;7, ZmPHT1;9 and ZmPHT1;11 were up-regulated by arbuscular mycorrhizal fungi (AMF), implying that these genes might participate in mediating Pi absorption and/or transport. Analysis of the promoters revealed that the MYCS and P1BS element are widely distributed on the region of different AMF-inducible ZmPHT1 promoters. In light of the above results, five of 13 ZmPHT1 genes were newly-identified AMF-inducible high-affinity phosphate transporters in the maize genome. Our results will lay a foundation for better understanding the PHT1 family evolution and the molecular mechanisms of inorganic phosphate transport under AMF inoculation.

  7. Systematic Identification, Evolution and Expression Analysis of the Zea mays PHT1 Gene Family Reveals Several New Members Involved in Root Colonization by Arbuscular Mycorrhizal Fungi

    PubMed Central

    Liu, Fang; Xu, Yunjian; Jiang, Huanhuan; Jiang, Chaosheng; Du, Yibin; Gong, Cheng; Wang, Wei; Zhu, Suwen; Han, Guomin; Cheng, Beijiu

    2016-01-01

    The Phosphate Transporter1 (PHT1) family of genes plays pivotal roles in the uptake of inorganic phosphate from soils. However, there is no comprehensive report on the PHT1 family in Zea mays based on the whole genome. In the present study, a total of 13 putative PHT1 genes (ZmPHT1;1 to 13) were identified in the inbred line B73 genome by bioinformatics methods. Then, their function was investigated by a yeast PHO84 mutant complementary experiment and qRT-PCR. Thirteen ZmPHT1 genes distributed on six chromosomes (1, 2, 5, 7, 8 and 10) were divided into two paralogues (Class A and Class B). ZmPHT1;1/ZmPHT1;9 and ZmPHT1;9/ZmPHT1;13 are produced from recent segmental duplication events. ZmPHT1;1/ZmPHT1;13 and ZmPHT1;8/ZmPHT1;10 are produced from early segmental duplication events. All 13 putative ZmPHT1s can completely or partly complement the yeast Pi-uptake mutant, and they were obviously induced in maize under low Pi conditions, except for ZmPHT1;1 (p < 0.01), indicating that the overwhelming majority of ZmPHT1 genes can respond to a low Pi condition. ZmPHT1;2, ZmPHT1;4, ZmPHT1;6, ZmPHT1;7, ZmPHT1;9 and ZmPHT1;11 were up-regulated by arbuscular mycorrhizal fungi (AMF), implying that these genes might participate in mediating Pi absorption and/or transport. Analysis of the promoters revealed that the MYCS and P1BS element are widely distributed on the region of different AMF-inducible ZmPHT1 promoters. In light of the above results, five of 13 ZmPHT1 genes were newly-identified AMF-inducible high-affinity phosphate transporters in the maize genome. Our results will lay a foundation for better understanding the PHT1 family evolution and the molecular mechanisms of inorganic phosphate transport under AMF inoculation. PMID:27304955

  8. Influence of family environment on language outcomes in children with myelomeningocele.

    PubMed

    Vachha, B; Adams, R

    2005-09-01

    Previously, our studies demonstrated language differences impacting academic performance among children with myelomeningocele and shunted hydrocephalus (MMSH). This follow-up study considers the environmental facilitators within families (achievement orientation, intellectual-cultural orientation, active recreational orientation, independence) among a cohort of children with MMSH and their relationship to language performance. Fifty-eight monolingual, English-speaking children (36 females; mean age: 10.1 years; age range: 7-16 years) with MMSH were evaluated. Exclusionary criteria were prior shunt infection; seizure or shunt malfunction within the previous 3 months; uncorrected visual or auditory impairments; prior diagnoses of mental retardation or attention deficit disorder. The Comprehensive Assessment of Spoken Language (CASL) and the Wechsler Abbreviated Scale of Intelligence (WASI) were administered individually to all participants. The CASL Measures four subsystems: lexical, syntactic, supralinguistic and pragmatic. Parents completed the Family Environment Scale (FES) questionnaire and provided background demographic information. Spearman correlation analyses and partial correlation analyses were performed. Mean intelligence scores for the MMSH group: full scale IQ 92.2 (SD = 11.9). The CASL revealed statistically significant difficulty for supralinguistic and pragmatic (or social) language tasks. FES scores fell within the average range for the group. Spearman correlation and partial correlation analyses revealed statistically significant positive relationships for the FES 'intellectual-cultural orientation' variable and performance within the four language subsystems. Socio-economic status (SES) characteristics were analyzed and did not discriminate language performance when the intellectual-cultural orientation factor was taken into account. The role of family facilitators on language skills in children with MMSH has not previously been described. The

  9. Measuring Outcomes of an Intensive Care Unit Family Diary Program.

    PubMed

    Huynh, Truong-Giang; Covalesky, Miranda; Sinclair, Samantha; Gunter, Heather; Norton, Tamara; Chen, Alice; Yi, Cassia

    2017-01-01

    Patients discharged from intensive care units are at risk of short- and long-term physical, cognitive, and emotional symptoms known as post-intensive care syndrome. Family members of intensive care unit patients are at risk of similar symptoms known as post-intensive care syndrome-family. Both syndromes are common, and strategies to reduce risk factors should be employed. An intensive care unit diary project to help reduce these syndromes was implemented in 2 intensive care units using an evidence-based framework. The effects of these diaries were studied using the Family Satisfaction with Care in the Intensive Care Unit survey. Rates of referrals to a postintensive care unit recovery clinic were also observed in relation to the diaries. Although preliminary data did not reveal a significant increase in family satisfaction, the surveys provided important staff feedback. The diaries fostered feelings of compassion and caring as well as built trust between staff and family members of intensive care unit patients. The diaries increased referrals to the postintensive care unit recovery clinic. ©2017 American Association of Critical-Care Nurses.

  10. Associations between Relational Pronoun Usage and the Quality of Early Family Interactions.

    PubMed

    Galdiolo, Sarah; Roskam, Isabelle; Verhofstadt, Lesley L; De Mol, Jan; Dewinne, Laura; Vandaudenard, Sylvain

    2016-01-01

    Our study examined the relationships of relational pronouns used in parental conversation to the quality of early family interactions, as indexed by Family Alliance (FA). We hypothesized that more positive family interactions were associated with the use of more we-pronouns (e.g., we, us, our; we-ness ) and fewer I- and you-pronouns (e.g., I, me, you, your; separateness ) by both mothers and fathers. Our statistical model using a multilevel modeling framework and two levels of analysis (i.e., a couple level and an individual level) was tested on 47 non-referred families ( n = 31 primiparous families; child's age, M = 15.75 months, SD = 2.73) with we-ness and separateness as outcomes and FA functions as between-dyads variables. Analyses revealed that we-ness within the parental couple was only positively associated with family affect sharing while separateness was negatively associated with different FA functions (e.g., communication mistakes). Our main finding suggested that the kinds of personal pronouns used by parental couples when discussing children's education would be associated to the emotional quality of the family interactions.

  11. Brief Report: The Impact of Negative Family-Work Spillover on Diurnal Cortisol

    PubMed Central

    Zilioli, Samuele; Imami, Ledina; Slatcher, Richard B.

    2016-01-01

    Both dimensions of the work-family interface, work-to-family and family-to-work spillover, have important implications for health and well-being. Despite the importance of these associations, very little is known about the physiological mechanisms through which the interplay between family and work experiences are translated into long-lasting consequences for health. This study investigated both positive and negative aspects of each spillover dimension on diurnal cortisol secretion patterns in a large panel study of working adults between the ages of 33 and 80. Results revealed that greater negative family-to-work (NFW) spillover predicted lower wake-up cortisol values and a flatter (less “healthy”) diurnal cortisol slope. This effect was evident even after controlling for the effects of the other spillover dimensions. These findings indicate that not all aspects of the work-family interface might impact stress physiology to the same extent and suggest that diurnal cortisol may be an important pathway through which negative aspects of the work-family interface leave their mark on health. PMID:27280370

  12. A Research Framework for Understanding the Practical Impact of Family Involvement in the Juvenile Justice System: The Juvenile Justice Family Involvement Model.

    PubMed

    Walker, Sarah Cusworth; Bishop, Asia S; Pullmann, Michael D; Bauer, Grace

    2015-12-01

    Family involvement is recognized as a critical element of service planning for children's mental health, welfare and education. For the juvenile justice system, however, parents' roles in this system are complex due to youths' legal rights, public safety, a process which can legally position parents as plaintiffs, and a historical legacy of blaming parents for youth indiscretions. Three recent national surveys of juvenile justice-involved parents reveal that the current paradigm elicits feelings of stress, shame and distrust among parents and is likely leading to worse outcomes for youth, families and communities. While research on the impact of family involvement in the justice system is starting to emerge, the field currently has no organizing framework to guide a research agenda, interpret outcomes or translate findings for practitioners. We propose a research framework for family involvement that is informed by a comprehensive review and content analysis of current, published arguments for family involvement in juvenile justice along with a synthesis of family involvement efforts in other child-serving systems. In this model, family involvement is presented as an ascending, ordinal concept beginning with (1) exclusion, and moving toward climates characterized by (2) information-giving, (3) information-eliciting and (4) full, decision-making partnerships. Specific examples of how courts and facilities might align with these levels are described. Further, the model makes predictions for how involvement will impact outcomes at multiple levels with applications for other child-serving systems.

  13. Family Efficacy within Ethnically Diverse Families: A Qualitative Study.

    PubMed

    Kao, Tsui-Sui A; Caldwell, Cleopatra H

    2017-03-01

    Family efficacy, which refers to a family's belief in its ability to produce a desired outcome, has been shown to protect adolescents from risky health behaviors. Few studies have examined family efficacy within diverse populations, however, and understanding of how efficacy is framed and formed within the context of cultural and familial values is limited. This descriptive qualitative study examined sources of family efficacy within ethnically and socioeconomically diverse families, evaluating how such families develop and exercise family efficacy with the intent to protect adolescents from risky health behaviors (i.e., marijuana and alcohol use and early sexual activity). We collected qualitative data via two semi-structured interviews, 4-6 months apart, with 31 adolescents (ages 12-14) and their parent/s, for total of 148 one-on-one interviews. Thematic analysis identified three distinct domains of family efficacy: relational, pragmatic, and value-laden. Prior experiences and cultural background influenced the domain/s utilized by families. Significantly, families that consistently tapped into all three domains were able to effectively manage personal and family difficulties; these families also had family strategies in place to prevent adolescents from risky behaviors. Health professionals could utilize this concept of multidimensional family efficacy to promote health within culturally diverse families. © 2015 Family Process Institute.

  14. Providing family planning and reproductive healthcare to Canadian immigrants: perceptions of healthcare providers.

    PubMed

    Newbold, K Bruce; Willinsky, Jacqueline

    2009-05-01

    Cultural impacts on health experiences and behaviours are profound in the area of reproductive health and family planning. Explored through interviews with family planning healthcare professionals, this paper evaluates their experiences in providing family planning and reproductive healthcare to immigrants in the Greater Toronto and Hamilton area of Ontario, Canada. Results reveal the complexity of delivering care to members of this group, particularly when dealing with language barriers, situations when professional and non-professional interpreters are used, and instances where healthcare professionals realize that they themselves have misconceptions and misunderstandings about other cultures. The paper concludes by discussing future research options and implications for the delivery of reproductive health family planning services to this population.

  15. Structure-based analysis of catalysis and substrate definition in the HIT protein family.

    PubMed

    Lima, C D; Klein, M G; Hendrickson, W A

    1997-10-10

    The histidine triad (HIT) protein family is among the most ubiquitous and highly conserved in nature, but a biological activity has not yet been identified for any member of the HIT family. Fragile histidine triad protein (FHIT) and protein kinase C interacting protein (PKCI) were used in a structure-based approach to elucidate characteristics of in vivo ligands and reactions. Crystallographic structures of apo, substrate analog, pentacovalent transition-state analog, and product states of both enzymes reveal a catalytic mechanism and define substrate characteristics required for catalysis, thus unifying the HIT family as nucleotidyl hydrolases, transferases, or both. The approach described here may be useful in identifying structure-function relations between protein families identified through genomics.

  16. Specifying the Influence of Family and Peers on Violent Victimization: Extending Routine Activities and Lifestyle Theories

    ERIC Educational Resources Information Center

    Schreck, Christopher J.; Fisher, Bonnie S.

    2004-01-01

    The fact that crime and victimization share similar correlates suggests that family and peer contexts are potentially useful for explaining individual differences in violent victimization. In this research, we used routine activities and lifestyles frameworks to reveal how strong bonds of family attachment can promote more effective guardianship…

  17. Parenting styles, family structure and adolescent dietary behaviour.

    PubMed

    Pearson, Natalie; Atkin, Andrew J; Biddle, Stuart J H; Gorely, Trish; Edwardson, Charlotte

    2010-08-01

    To examine associations between parenting styles, family structure and aspects of adolescent dietary behaviour. Cross-sectional study. Secondary schools in the East Midlands, UK. Adolescents aged 12-16 years (n 328, 57 % boys) completed an FFQ assessing their consumption of fruit, vegetables, unhealthy snacks and breakfast. Adolescents provided information on parental and sibling status and completed a seventeen-item instrument measuring the general parenting style dimensions of involvement and strictness, from which four styles were derived: indulgent, neglectful, authoritarian, authoritative. After controlling for adolescent gender and age, analysis of covariance revealed no significant interactions between parenting style and family structure variables for any of the dietary behaviours assessed. Significant main effects for family structure were observed only for breakfast consumption, with adolescents from dual-parent families (P < 0.01) and those with no brothers (P < 0.05) eating breakfast on more days per week than those from single-parent families and those with one or more brother, respectively. Significant main effects for parenting style were observed for all dietary behaviours apart from vegetable consumption. Adolescents who described their parents as authoritative ate more fruit per day, fewer unhealthy snacks per day, and ate breakfast on more days per week than those who described their parents as neglectful. The positive associations between authoritative parenting style and adolescent dietary behaviour transcend family structure. Future research should be food-specific and assess the efficacy of strategies promoting the central attributes of an authoritative parenting style on the dietary behaviours of adolescents from a variety of family structures.

  18. Family context assessment in a public health study.

    PubMed

    Velasco, David; Sánchez de Miguel, Manuel; Egurza, Maitane; Arranz, Enrique; Aranbarri, Aritz; Fano, Eduardo; Ibarluzea, Jesús

    2014-01-01

    To analyze the factorial structure of a new instrument to assess the quality of the family context (Etxadi-Gangoiti Scale) in a sample from the Gipuzkoa cohort of the Environment and Childhood (Infancia y Medio Ambiente [INMA]) study. Families in a sample of 433 two-year-old children were assessed in a home visit with subsequent analysis of the factorial structure and psychometric properties of the data. An exploratory factorial analysis (principal axis factoring and varimax rotation) and a confirmatory factorial analysis were carried out; partial confirmation of the original factorial structure of the instrument was obtained, which revealed the following factorial structures. Subscale (1): promotion of cognitive and linguistic development, social skills, psychomotor skills, and pretend play and imitation; subscale (2): promotion of independence and self-esteem, provision of optimal frustration, social and emotional quality of the relationship, and absence of physical punishment; subscale (3): paternal involvement, low exposure to family conflict, low frequency of family conflict, relationship with the extended family, social support, diversity of experiences, low frequency of stressful events, and low parental perception of stress. The structure of the original instrument structure was partially confirmed, which was attributed to the characteristics of the sample. We stress the importance of the variability obtained in the evaluation of the families, as well as of adequate indicators of reliability in such evaluation. The new instrument could be used in public health to identify deficient family contexts and to design preventive interventions focused on parenting skills. Copyright © 2013 SESPAS. Published by Elsevier Espana. All rights reserved.

  19. Decision-making among patients and their family in ALS care: a review.

    PubMed

    Foley, Geraldine; Hynes, Geralyn

    2018-05-01

    Practice guidelines in ALS care emphasise the role of the patient and their family in the decision-making process. We aimed to examine the ALS patient/family relationship in the decision-making process and to ascertain how patients and their family can shape one another's decisions pertaining to care. We conducted a review of peer-reviewed empirical research, published in full and in English between January 2007 and January 2017, relating to care decision-making among ALS patients and their family. Database sources included: Medline; CINAHL; AMED; PsycINFO; PsycARTICLES; and Social Sciences Full Text. A narrative synthesis was undertaken. Forty-seven studies from the empirical literature were extracted. The family viewpoint was captured primarily from family members with direct care-giving duties. Patients' cognitive status was not routinely assessed. The findings revealed that the decision-making process in ALS care can be contoured by patients' and family caregivers' perceived responsibilities to one another and to the wider family. Greater attention to family member roles beyond the primary caregiver role is needed. Strategies that integrate cognitively-impaired patients into the family decision-making process require investigation. Identification of the domains in which ALS patients and their family members support one another in the decision-making process could facilitate the development of patient/family decision-making tools in ALS care.

  20. Behavioral comparisons in autistic individuals from multiplex and singleton families.

    PubMed

    Cuccaro, Michael L; Shao, Yujun; Bass, Meredyth P; Abramson, Ruth K; Ravan, Sarah A; Wright, Harry H; Wolpert, Chantelle M; Donnelly, Shannon L; Pericak-Vance, Margaret A

    2003-02-01

    Autistic disorder (AD) is a complex neurodevelopmental disorder. The role of genetics in AD etiology is well established, and it is postulated that anywhere from 2 to 10 genes could be involved. As part of a larger study to identify these genetic effects we have ascertained a series of AD families: Sporadic (SP, 1 known AD case per family and no known history of AD) and multiplex (MP, > or = 2 cases per family). The underlying etiology of both family types is unknown. It is possible that MP families may constitute a unique subset of families in which the disease phenotype is more likely due to genetic factors. Clinical differences between the two family types could represent underlying genetic heterogeneity. We examined ADI-R data for 69 probands from MP families and 88 from SP families in order to compare and contrast the clinical phenotypes for each group as a function of verbal versus nonverbal status. Multivariate analysis controlling for covariates of age at examination, gender, and race (MANCOVA) revealed no differences between either the verbal or nonverbal MP and SP groups for the three ADI-R area scores: social interaction, communication, and restricted/repetitive interests or behaviors. These data failed to find clinical heterogeneity between MP and SP family types. This supports previous work that indicated that autism features are not useful as tools to index genetic heterogeneity. Thus, although there may be different underlying etiologic mechanisms in the SP and MP probands, there are no distinct behavioral patterns associated with probands from MP families versus SP families. These results suggests the possibility that common etiologic mechanisms, either genetic and/or environmental, could underlie all of AD.