Genome-wide analysis of the grapevine stilbene synthase multigenic family: genomic organization and expression profiles upon biotic and abiotic stresses

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Vannozzi Alessandro

2012-08-01

Full Text Available Abstract Background Plant stilbenes are a small group of phenylpropanoids, which have been detected in at least 72 unrelated plant species and accumulate in response to biotic and abiotic stresses such as infection, wounding, UV-C exposure and treatment with chemicals. Stilbenes are formed via the phenylalanine/polymalonate-route, the last step of which is catalyzed by the enzyme stilbene synthase (STS, a type III polyketide synthase (PKS. Stilbene synthases are closely related to chalcone synthases (CHS, the key enzymes of the flavonoid pathway, as illustrated by the fact that both enzymes share the same substrates. To date, STSs have been cloned from peanut, pine, sorghum and grapevine, the only stilbene-producing fruiting-plant for which the entire genome has been sequenced. Apart from sorghum, STS genes appear to exist as a family of closely related genes in these other plant species. Results In this study a complete characterization of the STS multigenic family in grapevine has been performed, commencing with the identification, annotation and phylogenetic analysis of all members and integration of this information with a comprehensive set of gene expression analyses including healthy tissues at differential developmental stages and in leaves exposed to both biotic (downy mildew infection and abiotic (wounding and UV-C exposure stresses. At least thirty-three full length sequences encoding VvSTS genes were identified, which, based on predicted amino acid sequences, cluster in 3 principal groups designated A, B and C. The majority of VvSTS genes cluster in groups B and C and are located on chr16 whereas the few gene family members in group A are found on chr10. Microarray and mRNA-seq expression analyses revealed different patterns of transcript accumulation between the different groups of VvSTS family members and between VvSTSs and VvCHSs. Indeed, under certain conditions the transcriptional response of VvSTS and VvCHS genes appears to be

Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings

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Ulrike Mütze

2017-03-01

Discussion: Sialidosis should be suspected in patients with cherry red macular spots, even with non-significant urinary sialic acid excretion. Multigene panel next generation sequencing can establish a definite diagnosis, allowing for counseling of the patient and family.

Multigene analyses resolve early diverging lineages in the Rhodymeniophycidae (Florideophyceae, Rhodophyta).

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Saunders, Gary W; Filloramo, Gina; Dixon, Kyatt; Le Gall, Line; Maggs, Christine A; Kraft, Gerald T

2016-08-01

Multigene phylogenetic analyses were directed at resolving the earliest divergences in the red algal subclass Rhodymeniophycidae. The inclusion of key taxa (new to science and/or previously lacking molecular data), additional sequence data (SSU, LSU, EF2, rbcL, COI-5P), and phylogenetic analyses removing the most variable sites (site stripping) have provided resolution for the first time at these deep nodes. The earliest diverging lineage within the subclass was the enigmatic Catenellopsis oligarthra from New Zealand (Catenellopsidaceae), which is here placed in the Catenellopsidales ord. nov. In our analyses, Atractophora hypnoides was not allied with the other included Bonnemaisoniales, but resolved as sister to the Peyssonneliales, and is here assigned to Atractophoraceae fam. nov. in the Atractophorales ord. nov. Inclusion of Acrothesaurum gemellifilum gen. et sp. nov. from Tasmania has greatly improved our understanding of the Acrosymphytales, to which we assign three families, the Acrosymphytaceae, Acrothesauraceae fam. nov. and Schimmelmanniaceae fam. nov. © 2016 Phycological Society of America.

Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India.

Science.gov (United States)

Mannan, Ashraf U; Singh, Jaya; Lakshmikeshava, Ravikiran; Thota, Nishita; Singh, Suhasini; Sowmya, T S; Mishra, Avshesh; Sinha, Aditi; Deshwal, Shivani; Soni, Megha R; Chandrasekar, Anbukayalvizhi; Ramesh, Bhargavi; Ramamurthy, Bharat; Padhi, Shila; Manek, Payal; Ramalingam, Ravi; Kapoor, Suman; Ghosh, Mithua; Sankaran, Satish; Ghosh, Arunabha; Veeramachaneni, Vamsi; Ramamoorthy, Preveen; Hariharan, Ramesh; Subramanian, Kalyanasundaram

2016-06-01

Breast and/or ovarian cancer (BOC) are among the most frequently diagnosed forms of hereditary cancers and leading cause of death in India. This emphasizes on the need for a cost-effective method for early detection of these cancers. We sequenced 141 unrelated patients and families with BOC using the TruSight Cancer panel, which includes 13 genes strongly associated with risk of inherited BOC. Multi-gene sequencing was done on the Illumina MiSeq platform. Genetic variations were identified using the Strand NGS software and interpreted using the StrandOmics platform. We were able to detect pathogenic mutations in 51 (36.2%) cases, out of which 19 were novel mutations. When we considered familial breast cancer cases only, the detection rate increased to 52%. When cases were stratified based on age of diagnosis into three categories, ⩽40 years, 40-50 years and >50 years, the detection rates were higher in the first two categories (44.4% and 53.4%, respectively) as compared with the third category, in which it was 26.9%. Our study suggests that next-generation sequencing-based multi-gene panels increase the sensitivity of mutation detection and help in identifying patients with a high risk of developing cancer as compared with sequential tests of individual genes.

Reiterative Recombination for the in vivo assembly of libraries of multigene pathways.

Science.gov (United States)

Wingler, Laura M; Cornish, Virginia W

2011-09-13

The increasing sophistication of synthetic biology is creating a demand for robust, broadly accessible methodology for constructing multigene pathways inside of the cell. Due to the difficulty of rationally designing pathways that function as desired in vivo, there is a further need to assemble libraries of pathways in parallel, in order to facilitate the combinatorial optimization of performance. While some in vitro DNA assembly methods can theoretically make libraries of pathways, these techniques are resource intensive and inherently require additional techniques to move the DNA back into cells. All previously reported in vivo assembly techniques have been low yielding, generating only tens to hundreds of constructs at a time. Here, we develop "Reiterative Recombination," a robust method for building multigene pathways directly in the yeast chromosome. Due to its use of endonuclease-induced homologous recombination in conjunction with recyclable markers, Reiterative Recombination provides a highly efficient, technically simple strategy for sequentially assembling an indefinite number of DNA constructs at a defined locus. In this work, we describe the design and construction of the first Reiterative Recombination system in Saccharomyces cerevisiae, and we show that it can be used to assemble multigene constructs. We further demonstrate that Reiterative Recombination can construct large mock libraries of at least 10(4) biosynthetic pathways. We anticipate that our system's simplicity and high efficiency will make it a broadly accessible technology for pathway construction and render it a valuable tool for optimizing pathways in vivo.

Co-ordinate regulation of cytokinin gene family members during flag leaf and reproductive development in wheat.

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Song, Jiancheng; Jiang, Lijun; Jameson, Paula Elizabeth

2012-06-06

As the global population continues to expand, increasing yield in bread wheat is of critical importance as 20% of the world's food supply is sourced from this cereal. Several recent studies of the molecular basis of grain yield indicate that the cytokinins are a key factor in determining grain yield. In this study, cytokinin gene family members in bread wheat were isolated from four multigene families which regulate cytokinin synthesis and metabolism, the isopentenyl transferases (IPT), cytokinin oxidases (CKX), zeatin O-glucosyltransferases (ZOG), and β-glucosidases (GLU). As bread wheat is hexaploid, each gene family is also likely to be represented on the A, B and D genomes. By using a novel strategy of qRT-PCR with locus-specific primers shared among the three homoeologues of each family member, detailed expression profiles are provided of family members of these multigene families expressed during leaf, spike and seed development. The expression patterns of individual members of the IPT, CKX, ZOG, and GLU multigene families in wheat are shown to be tissue- and developmentally-specific. For instance, TaIPT2 and TaCKX1 were the most highly expressed family members during early seed development, with relative expression levels of up to 90- and 900-fold higher, respectively, than those in the lowest expressed samples. The expression of two cis-ZOG genes was sharply increased in older leaves, while an extremely high mRNA level of TaGLU1-1 was detected in young leaves. Key genes with tissue- and developmentally-specific expression have been identified which would be prime targets for genetic manipulation towards yield improvement in bread wheat breeding programmes, utilising TILLING and MAS strategies.

Variability and action mechanism of a family of anticomplement proteins in Ixodes ricinus.

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Bernard Couvreur

Full Text Available BACKGROUND: Ticks are blood feeding arachnids that characteristically take a long blood meal. They must therefore counteract host defence mechanisms such as hemostasis, inflammation and the immune response. This is achieved by expressing batteries of salivary proteins coded by multigene families. METHODOLOGY/PRINCIPAL FINDINGS: We report the in-depth analysis of a tick multigene family and describe five new anticomplement proteins in Ixodes ricinus. Compared to previously described Ixodes anticomplement proteins, these segregated into a new phylogenetic group or subfamily. These proteins have a novel action mechanism as they specifically bind to properdin, leading to the inhibition of C3 convertase and the alternative complement pathway. An excess of non-synonymous over synonymous changes indicated that coding sequences had undergone diversifying selection. Diversification was not associated with structural, biochemical or functional diversity, adaptation to host species or stage specificity but rather to differences in antigenicity. CONCLUSIONS/SIGNIFICANCE: Anticomplement proteins from I. ricinus are the first inhibitors that specifically target a positive regulator of complement, properdin. They may provide new tools for the investigation of role of properdin in physiological and pathophysiological mechanisms. They may also be useful in disorders affecting the alternative complement pathway. Looking for and detecting the different selection pressures involved will help in understanding the evolution of multigene families and hematophagy in arthropods.

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

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Cánovas Fernando G

2011-12-01

Full Text Available Abstract Background 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. Results 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. Conclusions 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

From High-Throughput Microarray-Based Screening to Clinical Application: The Development of a Second Generation Multigene Test for Breast Cancer Prognosis

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Carsten Denkert

2013-08-01

Full Text Available Several multigene tests have been developed for breast cancer patients to predict the individual risk of recurrence. Most of the first generation tests rely on proliferation-associated genes and are commonly carried out in central reference laboratories. Here, we describe the development of a second generation multigene assay, the EndoPredict test, a prognostic multigene expression test for estrogen receptor (ER positive, human epidermal growth factor receptor (HER2 negative (ER+/HER2− breast cancer patients. The EndoPredict gene signature was initially established in a large high-throughput microarray-based screening study. The key steps for biomarker identification are discussed in detail, in comparison to the establishment of other multigene signatures. After biomarker selection, genes and algorithms were transferred to a diagnostic platform (reverse transcription quantitative PCR (RT-qPCR to allow for assaying formalin-fixed, paraffin-embedded (FFPE samples. A comprehensive analytical validation was performed and a prospective proficiency testing study with seven pathological laboratories finally proved that EndoPredict can be reliably used in the decentralized setting. Three independent large clinical validation studies (n = 2,257 demonstrated that EndoPredict offers independent prognostic information beyond current clinicopathological parameters and clinical guidelines. The review article summarizes several important steps that should be considered for the development process of a second generation multigene test and offers a means for transferring a microarray signature from the research laboratory to clinical practice.

A web-based resource for the Arabidopsis P450, cytochromes b5, NADPH-cytochrome P450 reductases, and family 1 glycosyltransferases (http://www.P450.kvl.dk).

Science.gov (United States)

Paquette, Suzanne M; Jensen, Kenneth; Bak, Søren

2009-12-01

Gene and genome duplication is a key driving force in evolution of plant diversity. This has resulted in a number of large multi-gene families. Two of the largest multi-gene families in plants are the cytochromes P450 (P450s) and family 1 glycosyltransferases (UGTs). These two families are key players in evolution, especially of plant secondary metabolism, and in adaption to abiotic and biotic stress. In the model plant Arabidopsis thaliana there are 246 and 112 cytochromes P450 and UGTs, respectively. The Arabidopsis P450, cytochromes b(5), NADPH-cytochrome P450 reductases, and family 1 glycosyltransferases website (http://www.P450.kvl.dk) is a sequence repository of manually curated sequences, multiple sequence alignments, phylogenetic trees, sequence motif logos, 3D structures, intron-exon maps, and customized BLAST datasets.

Identification and characterization of a new multigene family in the human MHC: A candidate autoimmune disease susceptibility element (3.8-1)

Energy Technology Data Exchange (ETDEWEB)

Harris, J.M.; Venditti, C.P.; Chorney, M.J. [Pennsylvania State Univ. College of Medicine, Hershey, PA (United States)

1994-09-01

An association between idiopathic hemochromatosis (HFE) and the HLA-A3 locus has been previously well-established. In an attempt to identify potential HFE candidate genes, a genomic DNA fragment distal to the HLA-A9 breakpoint was used to screen a B cell cDNA library; a member (3.8-1) of a new multigene family, composed of five distinct genomic cross-reactive fragments, was identified. Clone 3.8-1 represents the 3{prime} end of 9.6 kb transcript which is expressed in multiple tissues including the spleen, thymus, lung and kidney. Sequencing and genome database analysis indicate that 3.8-1 is unique, with no homology to any known entries. The genomic residence of 3-8.1, defined by polymorphism analysis and physical mapping using YAC clones, appears to be absent from the genomes of higher primates, although four other cross-reactivities are maintained. The absence of this gene as well as other probes which map in the TNF to HLA-B interval, suggest that this portion of the human HMC, located between the Class I and Class III regions, arose in humans as the result of a post-speciation insertional event. The large size of the 3.8-1 gene and the possible categorization of 3.8-1 as a human-specific gene are significant given the genetic data that place an autoimmune susceptibility element for IDDM and myasthenia gravis in the precise region where this gene resides. In an attempt to isolate the 5{prime} end of this large transcript, we have constructed a cosmid contig which encompasses the genomic locus of this gene and are progressively isolating coding sequences by exon trapping.

Reiterative Recombination for the in vivo assembly of libraries of multigene pathways

OpenAIRE

Wingler, Laura M.; Cornish, Virginia W.

2011-01-01

The increasing sophistication of synthetic biology is creating a demand for robust, broadly accessible methodology for constructing multigene pathways inside of the cell. Due to the difficulty of rationally designing pathways that function as desired in vivo, there is a further need to assemble libraries of pathways in parallel, in order to facilitate the combinatorial optimization of performance. While some in vitro DNA assembly methods can theoretically make libraries of pathways, these tec...

The experimental study of genetic engineering human neural stem cells mediated by lentivirus to express multigene.

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Cai, Pei-qiang; Tang, Xun; Lin, Yue-qiu; Martin, Oudega; Sun, Guang-yun; Xu, Lin; Yang, Yun-kang; Zhou, Tian-hua

2006-02-01

To explore the feasibility to construct genetic engineering human neural stem cells (hNSCs) mediated by lentivirus to express multigene in order to provide a graft source for further studies of spinal cord injury (SCI). Human neural stem cells from the brain cortex of human abortus were isolated and cultured, then gene was modified by lentivirus to express both green fluorescence protein (GFP) and rat neurotrophin-3 (NT-3); the transgenic expression was detected by the methods of fluorescence microscope, dorsal root ganglion of fetal rats and slot blot. Genetic engineering hNSCs were successfully constructed. All of the genetic engineering hNSCs which expressed bright green fluorescence were observed under the fluorescence microscope. The conditioned medium of transgenic hNSCs could induce neurite flourishing outgrowth from dorsal root ganglion (DRG). The genetic engineering hNSCs expressed high level NT-3 which could be detected by using slot blot. Genetic engineering hNSCs mediated by lentivirus can be constructed to express multigene successfully.

Integrated multigene expression panel to prognosticate patients with gastric cancer.

Science.gov (United States)

Kanda, Mitsuro; Murotani, Kenta; Tanaka, Haruyoshi; Miwa, Takashi; Umeda, Shinichi; Tanaka, Chie; Kobayashi, Daisuke; Hayashi, Masamichi; Hattori, Norifumi; Suenaga, Masaya; Yamada, Suguru; Nakayama, Goro; Fujiwara, Michitaka; Kodera, Yasuhiro

2018-04-10

Most of the proposed individual markers had limited clinical utility due to the inherent biological and genetic heterogeneity of gastric cancer. We aimed to build a new molecular-based model to predict prognosis in patients with gastric cancer. A total of 200 patients who underwent gastric resection for gastric cancer were divided into learning and validation cohorts using a table of random numbers in a 1:1 ratio. In the learning cohort, mRNA expression levels of 15 molecular markers in gastric tissues were analyzed and concordance index (C-index) values of all single and combinations of the 15 candidate markers for overall survival were calculated. The multigene expression panel was designed according to C-index values and the subpopulation index. Expression scores were determined with weighting according to the coefficient of each constituent. The reproducibility of the panel was evaluated in the validation cohort. C-index values of the 15 single candidate markers ranged from 0.506-0.653. Among 32,767 combinations, the optimal and balanced expression panel comprised four constituents ( MAGED2, SYT8, BTG1 , and FAM46 ) and the C-index value was 0.793. Using this panel, patients were provisionally categorized with scores of 1-3, and clearly stratified into favorable, intermediate, and poor overall survival groups. In the validation cohort, both overall and disease-free survival rates decreased incrementally with increasing expression scores. Multivariate analysis revealed that the expression score was an independent prognostic factor for overall survival after curative gastrectomy. We developed an integrated multigene expression panel that simply and accurately stratified risk of patients with gastric cancer.

Multi-gene genetic programming based predictive models for municipal solid waste gasification in a fluidized bed gasifier.

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Pandey, Daya Shankar; Pan, Indranil; Das, Saptarshi; Leahy, James J; Kwapinski, Witold

2015-03-01

A multi-gene genetic programming technique is proposed as a new method to predict syngas yield production and the lower heating value for municipal solid waste gasification in a fluidized bed gasifier. The study shows that the predicted outputs of the municipal solid waste gasification process are in good agreement with the experimental dataset and also generalise well to validation (untrained) data. Published experimental datasets are used for model training and validation purposes. The results show the effectiveness of the genetic programming technique for solving complex nonlinear regression problems. The multi-gene genetic programming are also compared with a single-gene genetic programming model to show the relative merits and demerits of the technique. This study demonstrates that the genetic programming based data-driven modelling strategy can be a good candidate for developing models for other types of fuels as well. Copyright © 2014 Elsevier Ltd. All rights reserved.

Distribution of protein kinase Mzeta and the complete protein kinase C isoform family in rat brain

DEFF Research Database (Denmark)

Naik, M U; Benedikz, Eirikur; Hernandez, I

2000-01-01

Protein kinase C (PKC) is a multigene family of at least ten isoforms, nine of which are expressed in brain (alpha, betaI, betaII, gamma, delta, straightepsilon, eta, zeta, iota/lambda). Our previous studies have shown that many of these PKCs participate in synaptic plasticity in the CA1 region...

The variable phenotype of the p.A16V mutation of cationic trypsinogen (PRSS1) in pancreatitis families

DEFF Research Database (Denmark)

Grocock, Christopher J; Rebours, Vinciane; Delhaye, Myriam

2010-01-01

Pancreatitis (HP); idiopathic disease; or pancreatitis in a single generation. HP was defined as 2 cases in 2 generations. MAIN OUTCOME MEASURES: Onset of painful episodes of pancreatitis, death from pancreatic cancer, diagnosis of diabetes mellitus and exocrine pancreatic failure. RESULTS: Ten families with p...... or Mann-Whitney-U tests. CONCLUSIONS: Penetrance of p.A16V is highly variable and family dependent, suggesting it contributes to a multigenic inheritance of a predisposition to pancreatitis....

Expansion and contraction of the DUP240 multigene family in Saccharomyces cerevisiae populations.

OpenAIRE

Leh-Louis, Véronique; Wirth, Bénédicte; Potier, Serge; Souciet, Jean-Luc; Despons, Laurence

2004-01-01

The influence of duplicated sequences on chromosomal stability is poorly understood. To characterize chromosomal rearrangements involving duplicated sequences, we compared the organization of tandem repeats of the DUP240 gene family in 15 Saccharomyces cerevisiae strains of various origins. The DUP240 gene family consists of 10 members of unknown function in the reference strain S288C. Five DUP240 paralogs on chromosome I and two on chromosome VII are arranged as tandem repeats that are highl...

Application of multigene phylogenetics and site-stripping to resolve intraordinal relationships in the Rhodymeniales (Rhodophyta).

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Filloramo, Gina V; Saunders, Gary W

2016-06-01

Previous molecular assessments of the red algal order Rhodymeniales have confirmed its monophyly and distinguished the six currently recognized families (viz. Champiaceae, Faucheaceae, Fryeellaceae, Hymenocladiaceae, Lomentariaceae, and Rhodymeniaceae); however, relationships among most of these families have remained unresolved possibly as a result of substitution saturation at deeper phylogenetic nodes. The objective of the current study was to improve rhodymenialean systematics by increasing taxonomic representation and using a more robust multigene dataset of mitochondrial (COB, COI/COI-5P), nuclear (LSU, EF2) and plastid markers (psbA, rbcL). Additionally, we aimed to prevent phylogenetic inference problems associated with substitution saturation (particularly at the interfamilial nodes) by removing fast-evolving sites and analyzing a series of progressively more conservative alignments. The Rhodymeniales was resolved as two major lineages: (i) the Fryeellaceae as sister to the Faucheaceae and Lomentariaceae; and (ii) the Rhodymeniaceae allied to the Champiaceae and Hymenocladiaceae. Support at the interfamilial nodes was highest when 20% of variable sites were removed. Inclusion of Binghamiopsis, Chamaebotrys, and Minium, which were absent in previous phylogenetic investigations, established their phylogenetic affinities while assessment of two genera consistently polyphyletic in phylogenetic analyses, Erythrymenia and Lomentaria, resulted in the proposition of the novel genera Perbella and Fushitsunagia. The taxonomic position of Drouetia was reinvestigated with re-examination of holotype material of D. coalescens to clarify tetrasporangial development in this genus. In addition, we added three novel Australian species to Drouetia as a result of ongoing DNA barcoding assessments-D. aggregata sp. nov., D. scutellata sp. nov., and D. viridescens sp. nov. © 2016 Phycological Society of America.

A Pareto-optimal moving average multigene genetic programming model for daily streamflow prediction

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Danandeh Mehr, Ali; Kahya, Ercan

2017-06-01

Genetic programming (GP) is able to systematically explore alternative model structures of different accuracy and complexity from observed input and output data. The effectiveness of GP in hydrological system identification has been recognized in recent studies. However, selecting a parsimonious (accurate and simple) model from such alternatives still remains a question. This paper proposes a Pareto-optimal moving average multigene genetic programming (MA-MGGP) approach to develop a parsimonious model for single-station streamflow prediction. The three main components of the approach that take us from observed data to a validated model are: (1) data pre-processing, (2) system identification and (3) system simplification. The data pre-processing ingredient uses a simple moving average filter to diminish the lagged prediction effect of stand-alone data-driven models. The multigene ingredient of the model tends to identify the underlying nonlinear system with expressions simpler than classical monolithic GP and, eventually simplification component exploits Pareto front plot to select a parsimonious model through an interactive complexity-efficiency trade-off. The approach was tested using the daily streamflow records from a station on Senoz Stream, Turkey. Comparing to the efficiency results of stand-alone GP, MGGP, and conventional multi linear regression prediction models as benchmarks, the proposed Pareto-optimal MA-MGGP model put forward a parsimonious solution, which has a noteworthy importance of being applied in practice. In addition, the approach allows the user to enter human insight into the problem to examine evolved models and pick the best performing programs out for further analysis.

Genomic organization and molecular phylogenies of the beta (β keratin multigene family in the chicken (Gallus gallus and zebra finch (Taeniopygia guttata: implications for feather evolution

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Sawyer Roger H

2010-05-01

Full Text Available Abstract Background The epidermal appendages of reptiles and birds are constructed of beta (β keratins. The molecular phylogeny of these keratins is important to understanding the evolutionary origin of these appendages, especially feathers. Knowing that the crocodilian β-keratin genes are closely related to those of birds, the published genomes of the chicken and zebra finch provide an opportunity not only to compare the genomic organization of their β-keratins, but to study their molecular evolution in archosaurians. Results The subfamilies (claw, feather, feather-like, and scale of β-keratin genes are clustered in the same 5' to 3' order on microchromosome 25 in chicken and zebra finch, although the number of claw and feather genes differs between the species. Molecular phylogenies show that the monophyletic scale genes are the basal group within birds and that the monophyletic avian claw genes form the basal group to all feather and feather-like genes. Both species have a number of feather clades on microchromosome 27 that form monophyletic groups. An additional monophyletic cluster of feather genes exist on macrochromosome 2 for each species. Expression sequence tag analysis for the chicken demonstrates that all feather β-keratin clades are expressed. Conclusions Similarity in the overall genomic organization of β-keratins in Galliformes and Passeriformes suggests similar organization in all Neognathae birds, and perhaps in the ancestral lineages leading to modern birds, such as the paravian Anchiornis huxleyi. Phylogenetic analyses demonstrate that evolution of archosaurian epidermal appendages in the lineage leading to birds was accompanied by duplication and divergence of an ancestral β-keratin gene cluster. As morphological diversification of epidermal appendages occurred and the β-keratin multigene family expanded, novel β-keratin genes were selected for novel functions within appendages such as feathers.

Definition of the low molecular weight glutenin subunit gene family members in a set of standard bread wheat (Triticum aestivum L.) varieties

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Low-molecular-weight glutenin subunits (LMW-GS) are a class of seed storage proteins that play a major role in the determination of the viscoelastic properties of wheat dough. Most of the LMW-GSs are encoded by a multi-gene family located on the short arms of the homoeologous group 1 chromosomes, at...

Characterization of genomic variations in SNPs of PE_PGRS genes reveals deletions and insertions in extensively drug resistant (XDR) M. tuberculosis strains from Pakistan

KAUST Repository

Kanji, Akbar; Hasan, Zahra; Ali, Asho M.; McNerney, Ruth; Mallard, Kim E.; Coll, Francesc; Hill-Cawthorne, Grant A.; Pain, Arnab; Nair, Mridul; Clark, Taane G.; Zaver, Ambreen; Jafri, Sana M Wasim; Hasan, Rumina

2015-01-01

Background: Mycobacterium tuberculosis (MTB) PE_PGRS genes belong to the PE multi-gene family. Although the function of the members of the PE_PGRS multi-gene family is not yet known, it is hypothesized that the PE_PGRS genes may be associated

Multigene Genetic Programming for Estimation of Elastic Modulus of Concrete

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Alireza Mohammadi Bayazidi

2014-01-01

Full Text Available This paper presents a new multigene genetic programming (MGGP approach for estimation of elastic modulus of concrete. The MGGP technique models the elastic modulus behavior by integrating the capabilities of standard genetic programming and classical regression. The main aim is to derive precise relationships between the tangent elastic moduli of normal and high strength concrete and the corresponding compressive strength values. Another important contribution of this study is to develop a generalized prediction model for the elastic moduli of both normal and high strength concrete. Numerous concrete compressive strength test results are obtained from the literature to develop the models. A comprehensive comparative study is conducted to verify the performance of the models. The proposed models perform superior to the existing traditional models, as well as those derived using other powerful soft computing tools.

The family structure of the Mucorales: a synoptic revision based on comprehensive multigene-genealogies.

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Hoffmann, K; Pawłowska, J; Walther, G; Wrzosek, M; de Hoog, G S; Benny, G L; Kirk, P M; Voigt, K

2013-06-01

The Mucorales (Mucoromycotina) are one of the most ancient groups of fungi comprising ubiquitous, mostly saprotrophic organisms. The first comprehensive molecular studies 11 yr ago revealed the traditional classification scheme, mainly based on morphology, as highly artificial. Since then only single clades have been investigated in detail but a robust classification of the higher levels based on DNA data has not been published yet. Therefore we provide a classification based on a phylogenetic analysis of four molecular markers including the large and the small subunit of the ribosomal DNA, the partial actin gene and the partial gene for the translation elongation factor 1-alpha. The dataset comprises 201 isolates in 103 species and represents about one half of the currently accepted species in this order. Previous family concepts are reviewed and the family structure inferred from the multilocus phylogeny is introduced and discussed. Main differences between the current classification and preceding concepts affects the existing families Lichtheimiaceae and Cunninghamellaceae, as well as the genera Backusella and Lentamyces which recently obtained the status of families along with the Rhizopodaceae comprising Rhizopus, Sporodiniella and Syzygites. Compensatory base change analyses in the Lichtheimiaceae confirmed the lower level classification of Lichtheimia and Rhizomucor while genera such as Circinella or Syncephalastrum completely lacked compensatory base changes.

The ?-gliadin multigene family in common wheat (Triticum aestivum) and its closely related species

OpenAIRE

Qi, Peng-Fei; Wei, Yu-Ming; Ouellet, Th?r?se; Chen, Qing; Tan, Xin; Zheng, You-Liang

2009-01-01

Abstract Background The unique properties of wheat flour primarily depend on gluten, which is the most important source of protein for human being. γ-Gliadins have been considered to be the most ancient of the wheat gluten family. The complex family structure of γ-gliadins complicates the determination of their function. Moreover, γ-gliadins contain several sets of celiac disease epitopes. However, no systematic research has been conducted yet. Results A total of 170 γ-gliadin genes were isol...

Quantitative trait loci affecting phenotypic variation in the vacuolated lens mouse mutant, a multigenic mouse model of neural tube defects

NARCIS (Netherlands)

Korstanje, Ron; Desai, Jigar; Lazar, Gloria; King, Benjamin; Rollins, Jarod; Spurr, Melissa; Joseph, Jamie; Kadambi, Sindhuja; Li, Yang; Cherry, Allison; Matteson, Paul G.; Paigen, Beverly; Millonig, James H.

Korstanje R, Desai J, Lazar G, King B, Rollins J, Spurr M, Joseph J, Kadambi S, Li Y, Cherry A, Matteson PG, Paigen B, Millonig JH. Quantitative trait loci affecting phenotypic variation in the vacuolated lens mouse mutant, a multigenic mouse model of neural tube defects. Physiol Genomics 35:

PseudoMLSA: a database for multigenic sequence analysis of Pseudomonas species

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Lalucat Jorge

2010-04-01

Full Text Available Abstract Background The genus Pseudomonas comprises more than 100 species of environmental, clinical, agricultural, and biotechnological interest. Although, the recommended method for discriminating bacterial species is DNA-DNA hybridisation, alternative techniques based on multigenic sequence analysis are becoming a common practice in bacterial species discrimination studies. Since there is not a general criterion for determining which genes are more useful for species resolution; the number of strains and genes analysed is increasing continuously. As a result, sequences of different genes are dispersed throughout several databases. This sequence information needs to be collected in a common database, in order to be useful for future identification-based projects. Description The PseudoMLSA Database is a comprehensive database of multiple gene sequences from strains of Pseudomonas species. The core of the database is composed of selected gene sequences from all Pseudomonas type strains validly assigned to the genus through 2008. The database is aimed to be useful for MultiLocus Sequence Analysis (MLSA procedures, for the identification and characterisation of any Pseudomonas bacterial isolate. The sequences are available for download via a direct connection to the National Center for Biotechnology Information (NCBI. Additionally, the database includes an online BLAST interface for flexible nucleotide queries and similarity searches with the user's datasets, and provides a user-friendly output for easily parsing, navigating, and analysing BLAST results. Conclusions The PseudoMLSA database amasses strains and sequence information of validly described Pseudomonas species, and allows free querying of the database via a user-friendly, web-based interface available at http://www.uib.es/microbiologiaBD/Welcome.html. The web-based platform enables easy retrieval at strain or gene sequence information level; including references to published peer

Contralateral prophylactic mastectomy rate and predictive factors among patients with breast cancer who underwent multigene panel testing for hereditary cancer.

Science.gov (United States)

Elsayegh, Nisreen; Webster, Rachel D; Gutierrez Barrera, Angelica M; Lin, Heather; Kuerer, Henry M; Litton, Jennifer K; Bedrosian, Isabelle; Arun, Banu K

2018-05-07

Although multigene panel testing is increasingly common in patients with cancer, the relationship between its use among breast cancer patients with non-BRCA mutations or variants of uncertain significance (VUS) and disease management decisions has not been well described. This study evaluated the rate and predictive factors of CPM patients who underwent multigene panel testing. Three hundred and fourteen patients with breast cancer who underwent multigene panel testing between 2014 and 2017 were included in the analysis. Of the 314 patients, 70 elected CPM. Election of CPM by gene status was as follows: BRCA carriers (42.3%), non-BRCA carriers (30.1%), and VUS (10.6%). CPM election rates did not differ between non-BRCA carriers and BRCA carriers (P = 0.6205). Among non-BRCA carriers, negative hormone receptor status was associated with CPM (P = 0.0115). For those with a VUS, hormone receptor status was not associated with CPM (P = 0.1879). Although the rate of CPM between BRCA carriers and non-BRCA carriers was not significantly different, the predictors of CPM were different in each group. Our analyses shed the light on the increasing use of CPM among patients who are non-BRCA carriers as well those with a VUS. Our study elucidates the differing predictive factors of CPM election among BRCA carriers, non-BRCA carries, and those with a VUS. Our findings reveal the need for providers to be cognizant that non-BRCA genes and VUS drive women to elect CPM despite the lack of data for contralateral breast cancer risk associated with these genes. © 2018 The Authors. Cancer Medicine published by John Wiley & Sons Ltd.

Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients

OpenAIRE

LaDuca, Holly; Stuenkel, A J; Dolinsky, Jill S.; Keiles, Steven; Tandy, Stephany; Pesaran, Tina; Chen, Elaine; Gau, Chia-Ling; Palmaer, Erika; Shoaepour, Kamelia; Shah, Divya; Speare, Virginia; Gandomi, Stephanie; Chao, Elizabeth

2014-01-01

Purpose: The aim of this study was to determine the clinical and molecular characteristics of 2,079 patients who underwent hereditary cancer multigene panel testing. Methods: Panels included comprehensive analysis of 14–22 cancer susceptibility genes (BRCA1 and BRCA2 not included), depending on the panel ordered (BreastNext, OvaNext, ColoNext, or CancerNext). Next-generation sequencing and deletion/duplication analyses were performed for all genes except EPCAM (deletion/duplication analysis o...

Genome-wide analysis of SINA family in plants and their phylogenetic relationships.

Science.gov (United States)

Wang, Meng; Jin, Ying; Fu, Junjie; Zhu, Yun; Zheng, Jun; Hu, Jian; Wang, Guoying

2008-06-01

SINA genes in plants are part of a multigene family with 5 members in Arabidopsis thaliana, 10 members in Populus trichocarpa, 6 members in Oryza sativa, at least 6 members in Zea mays and at least 1 member in Physcomitrella patens. Six members in maize were confirmed by RT-PCR. All SINAs have one RING domain and one SINA domain. These two domains are highly conserved in plants. According to the motif organization and phylogenetic tree, SINA family members were divided into 2 groups. In addition, through semi-quantitative RT-PCR analysis of maize members and Digital Northern analysis of Arabidopsis and rice members, we found that the tissue expression patterns are more diverse in monocot than in Arabidopsis.

Genetic Diversity and Differentiation of Colletotrichum spp. Isolates Associated with Leguminosae Using Multigene Loci, RAPD and ISSR

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Farshid Mahmodi

2014-03-01

Full Text Available Genetic diversity and differentiation of 50 Colletotrichum spp. isolates from legume crops studied through multigene loci, RAPD and ISSR analysis. DNA sequence comparisons by six genes (ITS, ACT, Tub2, CHS-1, GAPDH, and HIS3 verified species identity of C. truncatum, C. dematium and C. gloeosporiodes and identity C. capsici as a synonym of C. truncatum. Based on the matrix distance analysis of multigene sequences, the Colletotrichum species showed diverse degrees of intera and interspecific divergence (0.0 to 1.4% and (15.5–19.9, respectively. A multilocus molecular phylogenetic analysis clustered Colletotrichum spp. isolates into 3 well-defined clades, representing three distinct species; C. truncatum, C. dematium and C. gloeosporioides. The ISSR and RAPD and cluster analysis exhibited a high degree of variability among different isolates and permitted the grouping of isolates of Colletotrichum spp. into three distinct clusters. Distinct populations of Colletotrichum spp. isolates were genetically in accordance with host specificity and inconsistent with geographical origins. The large population of C. truncatum showed greater amounts of genetic diversity than smaller populations of C. dematium and C. gloeosporioides species. Results of ISSR and RAPD markers were congruent, but the effective maker ratio and the number of private alleles were greater in ISSR markers.

Plant X-tender: An extension of the AssemblX system for the assembly and expression of multigene constructs in plants

Science.gov (United States)

Machens, Fabian; Coll, Anna; Baebler, Špela; Messerschmidt, Katrin; Gruden, Kristina

2018-01-01

Cloning multiple DNA fragments for delivery of several genes of interest into the plant genome is one of the main technological challenges in plant synthetic biology. Despite several modular assembly methods developed in recent years, the plant biotechnology community has not widely adopted them yet, probably due to the lack of appropriate vectors and software tools. Here we present Plant X-tender, an extension of the highly efficient, scar-free and sequence-independent multigene assembly strategy AssemblX, based on overlap-depended cloning methods and rare-cutting restriction enzymes. Plant X-tender consists of a set of plant expression vectors and the protocols for most efficient cloning into the novel vector set needed for plant expression and thus introduces advantages of AssemblX into plant synthetic biology. The novel vector set covers different backbones and selection markers to allow full design flexibility. We have included ccdB counterselection, thereby allowing the transfer of multigene constructs into the novel vector set in a straightforward and highly efficient way. Vectors are available as empty backbones and are fully flexible regarding the orientation of expression cassettes and addition of linkers between them, if required. We optimised the assembly and subcloning protocol by testing different scar-less assembly approaches: the noncommercial SLiCE and TAR methods and the commercial Gibson assembly and NEBuilder HiFi DNA assembly kits. Plant X-tender was applicable even in combination with low efficient homemade chemically competent or electrocompetent Escherichia coli. We have further validated the developed procedure for plant protein expression by cloning two cassettes into the newly developed vectors and subsequently transferred them to Nicotiana benthamiana in a transient expression setup. Thereby we show that multigene constructs can be delivered into plant cells in a streamlined and highly efficient way. Our results will support faster

Plant X-tender: An extension of the AssemblX system for the assembly and expression of multigene constructs in plants.

Science.gov (United States)

Lukan, Tjaša; Machens, Fabian; Coll, Anna; Baebler, Špela; Messerschmidt, Katrin; Gruden, Kristina

2018-01-01

Cloning multiple DNA fragments for delivery of several genes of interest into the plant genome is one of the main technological challenges in plant synthetic biology. Despite several modular assembly methods developed in recent years, the plant biotechnology community has not widely adopted them yet, probably due to the lack of appropriate vectors and software tools. Here we present Plant X-tender, an extension of the highly efficient, scar-free and sequence-independent multigene assembly strategy AssemblX, based on overlap-depended cloning methods and rare-cutting restriction enzymes. Plant X-tender consists of a set of plant expression vectors and the protocols for most efficient cloning into the novel vector set needed for plant expression and thus introduces advantages of AssemblX into plant synthetic biology. The novel vector set covers different backbones and selection markers to allow full design flexibility. We have included ccdB counterselection, thereby allowing the transfer of multigene constructs into the novel vector set in a straightforward and highly efficient way. Vectors are available as empty backbones and are fully flexible regarding the orientation of expression cassettes and addition of linkers between them, if required. We optimised the assembly and subcloning protocol by testing different scar-less assembly approaches: the noncommercial SLiCE and TAR methods and the commercial Gibson assembly and NEBuilder HiFi DNA assembly kits. Plant X-tender was applicable even in combination with low efficient homemade chemically competent or electrocompetent Escherichia coli. We have further validated the developed procedure for plant protein expression by cloning two cassettes into the newly developed vectors and subsequently transferred them to Nicotiana benthamiana in a transient expression setup. Thereby we show that multigene constructs can be delivered into plant cells in a streamlined and highly efficient way. Our results will support faster

Single Day Construction of Multigene Circuits with 3G Assembly.

Science.gov (United States)

Halleran, Andrew D; Swaminathan, Anandh; Murray, Richard M

2018-05-18

The ability to rapidly design, build, and test prototypes is of key importance to every engineering discipline. DNA assembly often serves as a rate limiting step of the prototyping cycle for synthetic biology. Recently developed DNA assembly methods such as isothermal assembly and type IIS restriction enzyme systems take different approaches to accelerate DNA construction. We introduce a hybrid method, Golden Gate-Gibson (3G), that takes advantage of modular part libraries introduced by type IIS restriction enzyme systems and isothermal assembly's ability to build large DNA constructs in single pot reactions. Our method is highly efficient and rapid, facilitating construction of entire multigene circuits in a single day. Additionally, 3G allows generation of variant libraries enabling efficient screening of different possible circuit constructions. We characterize the efficiency and accuracy of 3G assembly for various construct sizes, and demonstrate 3G by characterizing variants of an inducible cell-lysis circuit.

Multigenic lentiviral vectors for combined and tissue-specific expression of miRNA- and protein-based antiangiogenic factors

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Anne Louise Askou

Full Text Available Lentivirus-based gene delivery vectors carrying multiple gene cassettes are powerful tools in gene transfer studies and gene therapy, allowing coexpression of multiple therapeutic factors and, if desired, fluorescent reporters. Current strategies to express transgenes and microRNA (miRNA clusters from a single vector have certain limitations that affect transgene expression levels and/or vector titers. In this study, we describe a novel vector design that facilitates combined expression of therapeutic RNA- and protein-based antiangiogenic factors as well as a fluorescent reporter from back-to-back RNApolII-driven expression cassettes. This configuration allows effective production of intron-embedded miRNAs that are released upon transduction of target cells. Exploiting such multigenic lentiviral vectors, we demonstrate robust miRNA-directed downregulation of vascular endothelial growth factor (VEGF expression, leading to reduced angiogenesis, and parallel impairment of angiogenic pathways by codelivering the gene encoding pigment epithelium-derived factor (PEDF. Notably, subretinal injections of lentiviral vectors reveal efficient retinal pigment epithelium-specific gene expression driven by the VMD2 promoter, verifying that multigenic lentiviral vectors can be produced with high titers sufficient for in vivo applications. Altogether, our results suggest the potential applicability of combined miRNA- and protein-encoding lentiviral vectors in antiangiogenic gene therapy, including new combination therapies for amelioration of age-related macular degeneration.

The membrane skeleton in Paramecium: Molecular characterization of a novel epiplasmin family and preliminary GFP expression results.

Science.gov (United States)

Pomel, Sébastien; Diogon, Marie; Bouchard, Philippe; Pradel, Lydie; Ravet, Viviane; Coffe, Gérard; Viguès, Bernard

2006-02-01

Previous attempts to identify the membrane skeleton of Paramecium cells have revealed a protein pattern that is both complex and specific. The most prominent structural elements, epiplasmic scales, are centered around ciliary units and are closely apposed to the cytoplasmic side of the inner alveolar membrane. We sought to characterize epiplasmic scale proteins (epiplasmins) at the molecular level. PCR approaches enabled the cloning and sequencing of two closely related genes by amplifications of sequences from a macronuclear genomic library. Using these two genes (EPI-1 and EPI-2), we have contributed to the annotation of the Paramecium tetraurelia macronuclear genome and identified 39 additional (paralogous) sequences. Two orthologous sequences were found in the Tetrahymena thermophila genome. Structural analysis of the 43 sequences indicates that the hallmark of this new multigenic family is a 79 aa domain flanked by two Q-, P- and V-rich stretches of sequence that are much more variable in amino-acid composition. Such features clearly distinguish members of the multigenic family from epiplasmic proteins previously sequenced in other ciliates. The expression of Green Fluorescent Protein (GFP)-tagged epiplasmin showed significant labeling of epiplasmic scales as well as oral structures. We expect that the GFP construct described herein will prove to be a useful tool for comparative subcellular localization of different putative epiplasmins in Paramecium.

Assessment of the validity of a multigene analysis in the diagnostics of inflammatory bowel disease

DEFF Research Database (Denmark)

Bjerrum, J T; Nyberg, Caroline; Olsen, J

2014-01-01

OBJECTIVES: The findings of a previous multigene study indicated that the expression of a panel of seven specific genes had strong differential power regarding inflammatory bowel disease (IBD) versus non-IBD, as well as ulcerative colitis (UC) versus Crohn's disease (CD). This prospective...... confirmatory study based on an independent patient cohort from a national Danish IBD centre was conducted in an attempt to verify these earlier observations. DESIGN, SETTING AND PARTICIPANTS: A total of 119 patients were included in the study (CD, UC and controls). Three mucosal biopsies were retrieved from......, a reliable and simple diagnostic tool is still warranted for optimal diagnosis and treatment of patients with IBD, especially the subgroup with unclassified disease....

Multi-gene detection and identification of mosquito-borne RNA viruses using an oligonucleotide microarray.

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Nathan D Grubaugh

Full Text Available BACKGROUND: Arthropod-borne viruses are important emerging pathogens world-wide. Viruses transmitted by mosquitoes, such as dengue, yellow fever, and Japanese encephalitis viruses, infect hundreds of millions of people and animals each year. Global surveillance of these viruses in mosquito vectors using molecular based assays is critical for prevention and control of the associated diseases. Here, we report an oligonucleotide DNA microarray design, termed ArboChip5.1, for multi-gene detection and identification of mosquito-borne RNA viruses from the genera Flavivirus (family Flaviviridae, Alphavirus (Togaviridae, Orthobunyavirus (Bunyaviridae, and Phlebovirus (Bunyaviridae. METHODOLOGY/PRINCIPAL FINDINGS: The assay utilizes targeted PCR amplification of three genes from each virus genus for electrochemical detection on a portable, field-tested microarray platform. Fifty-two viruses propagated in cell-culture were used to evaluate the specificity of the PCR primer sets and the ArboChip5.1 microarray capture probes. The microarray detected all of the tested viruses and differentiated between many closely related viruses such as members of the dengue, Japanese encephalitis, and Semliki Forest virus clades. Laboratory infected mosquitoes were used to simulate field samples and to determine the limits of detection. Additionally, we identified dengue virus type 3, Japanese encephalitis virus, Tembusu virus, Culex flavivirus, and a Quang Binh-like virus from mosquitoes collected in Thailand in 2011 and 2012. CONCLUSIONS/SIGNIFICANCE: We demonstrated that the described assay can be utilized in a comprehensive field surveillance program by the broad-range amplification and specific identification of arboviruses from infected mosquitoes. Furthermore, the microarray platform can be deployed in the field and viral RNA extraction to data analysis can occur in as little as 12 h. The information derived from the ArboChip5.1 microarray can help to establish

Evolution and variation of multigene families

CERN Document Server

Ohta, Tomoko

1980-01-01

During the last decade and a half, studies of evolution and variation have been revolutionized by the introduction of the methods and concepts of molecular genetics. We can now construct reliable phylogenetic trees, even when fossil records are missing, by compara­ tive studies of protein or mRNA sequences. If, in addition, paleon­ tological information is available, we can estimate the rate at which genes are substituted in the species in the course of evolution. Through the application of electrophoretic methods, it has become possible to study intraspecific variation in molecular terms. We now know that an immense genetic variability exists in a sexually repro­ ducing species, and our human species is no exception. The mathematical theory of population genetics (particularly its stochastic aspects) in conjunction with these new developments led us to formulate the "neutral theory" of molecular evolution, pointing out that chance, in the form of random gene frequency drift, is playing a much more importa...

Systematic assessment of multi-gene predictors of pan-cancer cell line sensitivity to drugs exploiting gene expression data [version 1; referees: 2 approved

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Linh Nguyen

2016-12-01

Full Text Available Background: Selected gene mutations are routinely used to guide the selection of cancer drugs for a given patient tumour. Large pharmacogenomic data sets were introduced to discover more of these single-gene markers of drug sensitivity. Very recently, machine learning regression has been used to investigate how well cancer cell line sensitivity to drugs is predicted depending on the type of molecular profile. The latter has revealed that gene expression data is the most predictive profile in the pan-cancer setting. However, no study to date has exploited GDSC data to systematically compare the performance of machine learning models based on multi-gene expression data against that of widely-used single-gene markers based on genomics data. Methods: Here we present this systematic comparison using Random Forest (RF classifiers exploiting the expression levels of 13,321 genes and an average of 501 tested cell lines per drug. To account for time-dependent batch effects in IC50 measurements, we employ independent test sets generated with more recent GDSC data than that used to train the predictors and show that this is a more realistic validation than K-fold cross-validation. Results and Discussion: Across 127 GDSC drugs, our results show that the single-gene markers unveiled by the MANOVA analysis tend to achieve higher precision than these RF-based multi-gene models, at the cost of generally having a poor recall (i.e. correctly detecting only a small part of the cell lines sensitive to the drug. Regarding overall classification performance, about two thirds of the drugs are better predicted by multi-gene RF classifiers. Among the drugs with the most predictive of these models, we found pyrimethamine, sunitinib and 17-AAG. Conclusions: We now know that this type of models can predict in vitro tumour response to these drugs. These models can thus be further investigated on in vivo tumour models.

Consistency and reproducibility of next-generation sequencing and other multigene mutational assays: A worldwide ring trial study on quantitative cytological molecular reference specimens.

Science.gov (United States)

Malapelle, Umberto; Mayo-de-Las-Casas, Clara; Molina-Vila, Miguel A; Rosell, Rafael; Savic, Spasenija; Bihl, Michel; Bubendorf, Lukas; Salto-Tellez, Manuel; de Biase, Dario; Tallini, Giovanni; Hwang, David H; Sholl, Lynette M; Luthra, Rajyalakshmi; Weynand, Birgit; Vander Borght, Sara; Missiaglia, Edoardo; Bongiovanni, Massimo; Stieber, Daniel; Vielh, Philippe; Schmitt, Fernando; Rappa, Alessandra; Barberis, Massimo; Pepe, Francesco; Pisapia, Pasquale; Serra, Nicola; Vigliar, Elena; Bellevicine, Claudio; Fassan, Matteo; Rugge, Massimo; de Andrea, Carlos E; Lozano, Maria D; Basolo, Fulvio; Fontanini, Gabriella; Nikiforov, Yuri E; Kamel-Reid, Suzanne; da Cunha Santos, Gilda; Nikiforova, Marina N; Roy-Chowdhuri, Sinchita; Troncone, Giancarlo

2017-08-01

Molecular testing of cytological lung cancer specimens includes, beyond epidermal growth factor receptor (EGFR), emerging predictive/prognostic genomic biomarkers such as Kirsten rat sarcoma viral oncogene homolog (KRAS), neuroblastoma RAS viral [v-ras] oncogene homolog (NRAS), B-Raf proto-oncogene, serine/threonine kinase (BRAF), and phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit α (PIK3CA). Next-generation sequencing (NGS) and other multigene mutational assays are suitable for cytological specimens, including smears. However, the current literature reflects single-institution studies rather than multicenter experiences. Quantitative cytological molecular reference slides were produced with cell lines designed to harbor concurrent mutations in the EGFR, KRAS, NRAS, BRAF, and PIK3CA genes at various allelic ratios, including low allele frequencies (AFs; 1%). This interlaboratory ring trial study included 14 institutions across the world that performed multigene mutational assays, from tissue extraction to data analysis, on these reference slides, with each laboratory using its own mutation analysis platform and methodology. All laboratories using NGS (n = 11) successfully detected the study's set of mutations with minimal variations in the means and standard errors of variant fractions at dilution points of 10% (P = .171) and 5% (P = .063) despite the use of different sequencing platforms (Illumina, Ion Torrent/Proton, and Roche). However, when mutations at a low AF of 1% were analyzed, the concordance of the NGS results was low, and this reflected the use of different thresholds for variant calling among the institutions. In contrast, laboratories using matrix-assisted laser desorption/ionization-time of flight (n = 2) showed lower concordance in terms of mutation detection and mutant AF quantification. Quantitative molecular reference slides are a useful tool for monitoring the performance of different multigene mutational

A Multi-Gene Phylogeny of Ceratocystis Manginecans Infecting Mango in Pakistan

International Nuclear Information System (INIS)

Rashid, A.; Ahmad, I.; Iram, S.

2016-01-01

Mango trees (Mangifera indica L.) are affected by a serious wilt disease, recognized as mango sudden death first time reported in Muzafargargh Punjab, Pakistan in 1995. Its prevalent is in almost all mango growing areas with severity ranged from 2-5 percent in Punjab and 5-10 percent in Sindh. Survey and sampling was conducted during the year 2011-12, on mango orchids in different distracts of Punjab and Sindh and no location was found free from this Disease. For molecular identification, DNA was successfully extracted and was then amplified by using ITS, BT, TEF (600-800)primers through Polymerase Chain Reaction (PCR) assay and nucleotide evidence of Pakistani isolates (45 for each gene) exhibiting the maximum genetic homology with Ceratocystis manginecans (99-100 percent) followed by C. fimbriata (97 percent) and C. omanensis (80 percent) respectively. On the basics of morphological tools and comparison of nucleotide evidence of multi-genes, C. manginecans is different from C. fimbriata and C. omanensis which infect mango in Pakistan. The availability of disease-free planting material and management in combination with fertilization and proper irrigation system would help in improving orchard management system. (author)

Molecular evolution of the major chemosensory gene families in insects.

Science.gov (United States)

Sánchez-Gracia, A; Vieira, F G; Rozas, J

2009-09-01

Chemoreception is a crucial biological process that is essential for the survival of animals. In insects, olfaction allows the organism to recognise volatile cues that allow the detection of food, predators and mates, whereas the sense of taste commonly allows the discrimination of soluble stimulants that elicit feeding behaviours and can also initiate innate sexual and reproductive responses. The most important proteins involved in the recognition of chemical cues comprise moderately sized multigene families. These families include odorant-binding proteins (OBPs) and chemosensory proteins (CSPs), which are involved in peripheral olfactory processing, and the chemoreceptor superfamily formed by the olfactory receptor (OR) and gustatory receptor (GR) families. Here, we review some recent evolutionary genomic studies of chemosensory gene families using the data from fully sequenced insect genomes, especially from the 12 newly available Drosophila genomes. Overall, the results clearly support the birth-and-death model as the major mechanism of evolution in these gene families. Namely, new members arise by tandem gene duplication, progressively diverge in sequence and function, and can eventually be lost from the genome by a deletion or pseudogenisation event. Adaptive changes fostered by environmental shifts are also observed in the evolution of chemosensory families in insects and likely involve reproductive, ecological or behavioural traits. Consequently, the current size of these gene families is mainly a result of random gene gain and loss events. This dynamic process may represent a major source of genetic variation, providing opportunities for FUTURE specific adaptations.

Process for assembly and transformation into Saccharomyces cerevisiae of a synthetic yeast artificial chromosome containing a multigene cassette to express enzymes that enhance xylose utilization designed for an automated pla

Science.gov (United States)

A yeast artificial chromosome (YAC) containing a multigene cassette for expression of enzymes that enhance xylose utilization (xylose isomerase [XI] and xylulokinase [XKS]) was constructed and transformed into Saccharomyces cerevisiae to demonstrate feasibility as a stable protein expression system ...

A genome-wide phylogenetic reconstruction of family 1 UDP-glycosyltransferases revealed the expansion of the family during the adaptation of plants to life on land.

Science.gov (United States)

Caputi, Lorenzo; Malnoy, Mickael; Goremykin, Vadim; Nikiforova, Svetlana; Martens, Stefan

2012-03-01

For almost a decade, our knowledge on the organisation of the family 1 UDP-glycosyltransferases (UGTs) has been limited to the model plant A. thaliana. The availability of other plant genomes represents an opportunity to obtain a broader view of the family in terms of evolution and organisation. Family 1 UGTs are known to glycosylate several classes of plant secondary metabolites. A phylogeny reconstruction study was performed to get an insight into the evolution of this multigene family during the adaptation of plants to life on land. The organisation of the UGTs in the different organisms was also investigated. More than 1500 putative UGTs were identified in 12 fully sequenced and assembled plant genomes based on the highly conserved PSPG motif. Analyses by maximum likelihood (ML) method were performed to reconstruct the phylogenetic relationships existing between the sequences. The results of this study clearly show that the UGT family expanded during the transition from algae to vascular plants and that in higher plants the clustering of UGTs into phylogenetic groups appears to be conserved, although gene loss and gene gain events seem to have occurred in certain lineages. Interestingly, two new phylogenetic groups, named O and P, that are not present in A. thaliana were discovered. © 2011 The Authors. The Plant Journal © 2011 Blackwell Publishing Ltd.

Targeted Enrichment of Large Gene Families for Phylogenetic Inference: Phylogeny and Molecular Evolution of Photosynthesis Genes in the Portullugo Clade (Caryophyllales).

Science.gov (United States)

Moore, Abigail J; Vos, Jurriaan M De; Hancock, Lillian P; Goolsby, Eric; Edwards, Erika J

2018-05-01

Hybrid enrichment is an increasingly popular approach for obtaining hundreds of loci for phylogenetic analysis across many taxa quickly and cheaply. The genes targeted for sequencing are typically single-copy loci, which facilitate a more straightforward sequence assembly and homology assignment process. However, this approach limits the inclusion of most genes of functional interest, which often belong to multi-gene families. Here, we demonstrate the feasibility of including large gene families in hybrid enrichment protocols for phylogeny reconstruction and subsequent analyses of molecular evolution, using a new set of bait sequences designed for the "portullugo" (Caryophyllales), a moderately sized lineage of flowering plants (~ 2200 species) that includes the cacti and harbors many evolutionary transitions to C$_{\\mathrm{4}}$ and CAM photosynthesis. Including multi-gene families allowed us to simultaneously infer a robust phylogeny and construct a dense sampling of sequences for a major enzyme of C$_{\\mathrm{4}}$ and CAM photosynthesis, which revealed the accumulation of adaptive amino acid substitutions associated with C$_{\\mathrm{4}}$ and CAM origins in particular paralogs. Our final set of matrices for phylogenetic analyses included 75-218 loci across 74 taxa, with ~ 50% matrix completeness across data sets. Phylogenetic resolution was greatly improved across the tree, at both shallow and deep levels. Concatenation and coalescent-based approaches both resolve the sister lineage of the cacti with strong support: Anacampserotaceae $+$ Portulacaceae, two lineages of mostly diminutive succulent herbs of warm, arid regions. In spite of this congruence, BUCKy concordance analyses demonstrated strong and conflicting signals across gene trees. Our results add to the growing number of examples illustrating the complexity of phylogenetic signals in genomic-scale data.

Structure of a Berberine Bridge Enzyme-Like Enzyme with an Active Site Specific to the Plant Family Brassicaceae

DEFF Research Database (Denmark)

Daniel, Bastian; Wallner, Silvia; Steiner, Barbara

2016-01-01

Berberine bridge enzyme-like (BBE-like) proteins form a multigene family (pfam 08031), which is present in plants, fungi and bacteria. They adopt the vanillyl alcohol-oxidase fold and predominantly show bi-covalent tethering of the FAD cofactor to a cysteine and histidine residue, respectively....... The Arabidopsis thaliana genome was recently shown to contain genes coding for 28 BBE-like proteins, while featuring four distinct active site compositions. We determined the structure of a member of the AtBBE-like protein family (termed AtBBE-like 28), which has an active site composition that has not been...... be exploited for catalysis. The structure also indicates a shift of the position of the isoalloxazine ring in comparison to other members of the BBE-like family. The dioxygen surrogate chloride was found near the C(4a) position of the isoalloxazine ring in the oxygen pocket, pointing to a rapid reoxidation...

Utility of Multi-Gene Loci for Forensic Species Diagnosis of Blowflies

Science.gov (United States)

Zaidi, Farrah; Wei, Shu-jun; Shi, Min; Chen, Xue-xin

2011-01-01

Contemporary studies in forensic entomology exhaustively evaluate gene sequences because these constitute the fastest and most accurate method of species identification. For this purpose single gene segments, cytochrome oxidase subunit I (COI) in particular, are commonly used. However, the limitation of such sequences in identification, especially of closely related species and populations, demand a multi-gene approach. But this raises the question of which group of genes can best fulfill the identification task? In this context the utility of five gene segments was explored among blowfly species from two distinct geographic regions, China and Pakistan. COI, cytochrome b (CYTB), NADH dehydrogenase 5 (ND5), nuclear internal transcribed spacers (ITS1 and ITS2), were sequenced for eight blowfly species including Chrysomya megacephala F. (Diptera: Calliphoidae), Ch. pinguis Walker, Lucilia sericata Meigen L. porphyrina Walker, L. illustris Meigen Hemipyrellia ligurriens Wiedemann, Aldrichina grahami Aldrich, and the housefly, Musca domestica L. (Muscidae), from Hangzhou, China; while COI, CYTB, and ITS2 were sequenced for four species, i.e. Ch. megacephala, Ch. rufifacies, L. cuprina, and the flesh fly, Sarcophaga albiceps Meigen (Sarcophagidae), from Dera Ismail Khan Pakistan. The results demonstrate a universal utility of these gene segments in the molecular identification of flies of forensic importance. PMID:21864153

Mitotic evolution of Plasmodium falciparum shows a stable core genome but recombination in antigen families.

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Selina E R Bopp

Full Text Available Malaria parasites elude eradication attempts both within the human host and across nations. At the individual level, parasites evade the host immune responses through antigenic variation. At the global level, parasites escape drug pressure through single nucleotide variants and gene copy amplification events conferring drug resistance. Despite their importance to global health, the rates at which these genomic alterations emerge have not been determined. We studied the complete genomes of different Plasmodium falciparum clones that had been propagated asexually over one year in the presence and absence of drug pressure. A combination of whole-genome microarray analysis and next-generation deep resequencing (totaling 14 terabases revealed a stable core genome with only 38 novel single nucleotide variants appearing in seventeen evolved clones (avg. 5.4 per clone. In clones exposed to atovaquone, we found cytochrome b mutations as well as an amplification event encompassing the P. falciparum multidrug resistance associated protein (mrp1 on chromosome 1. We observed 18 large-scale (>1 kb on average deletions of telomere-proximal regions encoding multigene families, involved in immune evasion (9.5×10(-6 structural variants per base pair per generation. Six of these deletions were associated with chromosomal crossovers generated during mitosis. We found only minor differences in rates between genetically distinct strains and between parasites cultured in the presence or absence of drug. Using these derived mutation rates for P. falciparum (1.0-9.7×10(-9 mutations per base pair per generation, we can now model the frequency at which drug or immune resistance alleles will emerge under a well-defined set of assumptions. Further, the detection of mitotic recombination events in var gene families illustrates how multigene families can arise and change over time in P. falciparum. These results will help improve our understanding of how P. falciparum

Mitotic Evolution of Plasmodium falciparum Shows a Stable Core Genome but Recombination in Antigen Families

Science.gov (United States)

Bopp, Selina E. R.; Manary, Micah J.; Bright, A. Taylor; Johnston, Geoffrey L.; Dharia, Neekesh V.; Luna, Fabio L.; McCormack, Susan; Plouffe, David; McNamara, Case W.; Walker, John R.; Fidock, David A.; Denchi, Eros Lazzerini; Winzeler, Elizabeth A.

2013-01-01

Malaria parasites elude eradication attempts both within the human host and across nations. At the individual level, parasites evade the host immune responses through antigenic variation. At the global level, parasites escape drug pressure through single nucleotide variants and gene copy amplification events conferring drug resistance. Despite their importance to global health, the rates at which these genomic alterations emerge have not been determined. We studied the complete genomes of different Plasmodium falciparum clones that had been propagated asexually over one year in the presence and absence of drug pressure. A combination of whole-genome microarray analysis and next-generation deep resequencing (totaling 14 terabases) revealed a stable core genome with only 38 novel single nucleotide variants appearing in seventeen evolved clones (avg. 5.4 per clone). In clones exposed to atovaquone, we found cytochrome b mutations as well as an amplification event encompassing the P. falciparum multidrug resistance associated protein (mrp1) on chromosome 1. We observed 18 large-scale (>1 kb on average) deletions of telomere-proximal regions encoding multigene families, involved in immune evasion (9.5×10−6 structural variants per base pair per generation). Six of these deletions were associated with chromosomal crossovers generated during mitosis. We found only minor differences in rates between genetically distinct strains and between parasites cultured in the presence or absence of drug. Using these derived mutation rates for P. falciparum (1.0–9.7×10−9 mutations per base pair per generation), we can now model the frequency at which drug or immune resistance alleles will emerge under a well-defined set of assumptions. Further, the detection of mitotic recombination events in var gene families illustrates how multigene families can arise and change over time in P. falciparum. These results will help improve our understanding of how P. falciparum evolves to

Systematic assessment of multi-gene predictors of pan-cancer cell line sensitivity to drugs exploiting gene expression data [version 2; referees: 2 approved

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Linh Nguyen

2017-03-01

Full Text Available Background: Selected gene mutations are routinely used to guide the selection of cancer drugs for a given patient tumour. Large pharmacogenomic data sets, such as those by Genomics of Drug Sensitivity in Cancer (GDSC consortium, were introduced to discover more of these single-gene markers of drug sensitivity. Very recently, machine learning regression has been used to investigate how well cancer cell line sensitivity to drugs is predicted depending on the type of molecular profile. The latter has revealed that gene expression data is the most predictive profile in the pan-cancer setting. However, no study to date has exploited GDSC data to systematically compare the performance of machine learning models based on multi-gene expression data against that of widely-used single-gene markers based on genomics data. Methods: Here we present this systematic comparison using Random Forest (RF classifiers exploiting the expression levels of 13,321 genes and an average of 501 tested cell lines per drug. To account for time-dependent batch effects in IC50 measurements, we employ independent test sets generated with more recent GDSC data than that used to train the predictors and show that this is a more realistic validation than standard k-fold cross-validation. Results and Discussion: Across 127 GDSC drugs, our results show that the single-gene markers unveiled by the MANOVA analysis tend to achieve higher precision than these RF-based multi-gene models, at the cost of generally having a poor recall (i.e. correctly detecting only a small part of the cell lines sensitive to the drug. Regarding overall classification performance, about two thirds of the drugs are better predicted by the multi-gene RF classifiers. Among the drugs with the most predictive of these models, we found pyrimethamine, sunitinib and 17-AAG. Conclusions: Thanks to this unbiased validation, we now know that this type of models can predict in vitro tumour response to some of these

A genome-wide analysis of the flax (Linum usitatissimum L.) dirigent protein family: from gene identification and evolution to differential regulation.

Energy Technology Data Exchange (ETDEWEB)

Corbin, Cyrielle; Drouet, Samantha; Markulin, Lucija; Auguin, Daniel; Laine, Eric; Davin, Laurence B.; Cort, John R.; Lewis, Norman G.; Hano, Christophe

2018-04-30

Identification of DIR encoding genes in flax genome. Analysis of phylogeny, gene/protein structures and evolution. Identification of new conserved motifs linked to biochemical functions. Investigation of spatio-temporal gene expression and response to stress. Dirigent proteins (DIRs) were discovered during 8-8' lignan biosynthesis studies, through identification of stereoselective coupling to afford either (+)- or (-)-pinoresinols from E-coniferyl alcohol. DIRs are also involved or potentially involved in terpenoid, allyl/propenyl phenol lignan, pterocarpan and lignin biosynthesis. DIRs have very large multigene families in different vascular plants including flax, with most still of unknown function. DIR studies typically focus on a small subset of genes and identification of biochemical/physiological functions. Herein, a genome-wide analysis and characterization of the predicted flax DIR 44-membered multigene family was performed, this species being a rich natural grain source of 8-8' linked secoisolariciresinol-derived lignan oligomers. All predicted DIR sequences, including their promoters, were analyzed together with their public gene expression datasets. Expression patterns of selected DIRs were examined using qPCR, as well as through clustering analysis of DIR gene expression. These analyses further implicated roles for specific DIRs in (-)-pinoresinol formation in seed-coats, as well as (+)-pinoresinol in vegetative organs and/or specific responses to stress. Phylogeny and gene expression analysis segregated flax DIRs into six distinct clusters with new cluster-specific motifs identified. We propose that these findings can serve as a foundation to further systematically determine functions of DIRs, i.e. other than those already known in lignan biosynthesis in flax and other species. Given the differential expression profiles and inducibility of the flax DIR family, we provisionally propose that some DIR genes of unknown function could be involved

A genome-wide analysis of the flax (Linum usitatissimum L.) dirigent protein family: from gene identification and evolution to differential regulation.

Science.gov (United States)

Corbin, Cyrielle; Drouet, Samantha; Markulin, Lucija; Auguin, Daniel; Lainé, Éric; Davin, Laurence B; Cort, John R; Lewis, Norman G; Hano, Christophe

2018-05-01

Identification of DIR encoding genes in flax genome. Analysis of phylogeny, gene/protein structures and evolution. Identification of new conserved motifs linked to biochemical functions. Investigation of spatio-temporal gene expression and response to stress. Dirigent proteins (DIRs) were discovered during 8-8' lignan biosynthesis studies, through identification of stereoselective coupling to afford either (+)- or (-)-pinoresinols from E-coniferyl alcohol. DIRs are also involved or potentially involved in terpenoid, allyl/propenyl phenol lignan, pterocarpan and lignin biosynthesis. DIRs have very large multigene families in different vascular plants including flax, with most still of unknown function. DIR studies typically focus on a small subset of genes and identification of biochemical/physiological functions. Herein, a genome-wide analysis and characterization of the predicted flax DIR 44-membered multigene family was performed, this species being a rich natural grain source of 8-8' linked secoisolariciresinol-derived lignan oligomers. All predicted DIR sequences, including their promoters, were analyzed together with their public gene expression datasets. Expression patterns of selected DIRs were examined using qPCR, as well as through clustering analysis of DIR gene expression. These analyses further implicated roles for specific DIRs in (-)-pinoresinol formation in seed-coats, as well as (+)-pinoresinol in vegetative organs and/or specific responses to stress. Phylogeny and gene expression analysis segregated flax DIRs into six distinct clusters with new cluster-specific motifs identified. We propose that these findings can serve as a foundation to further systematically determine functions of DIRs, i.e. other than those already known in lignan biosynthesis in flax and other species. Given the differential expression profiles and inducibility of the flax DIR family, we provisionally propose that some DIR genes of unknown function could be involved in

Molecular evolution of the crustacean hyperglycemic hormone family in ecdysozoans

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Soyez Daniel

2010-02-01

Full Text Available Abstract Background Crustacean Hyperglycemic Hormone (CHH family peptides are neurohormones known to regulate several important functions in decapod crustaceans such as ionic and energetic metabolism, molting and reproduction. The structural conservation of these peptides, together with the variety of functions they display, led us to investigate their evolutionary history. CHH family peptides exist in insects (Ion Transport Peptides and may be present in all ecdysozoans as well. In order to extend the evolutionary study to the entire family, CHH family peptides were thus searched in taxa outside decapods, where they have been, to date, poorly investigated. Results CHH family peptides were characterized by molecular cloning in a branchiopod crustacean, Daphnia magna, and in a collembolan, Folsomia candida. Genes encoding such peptides were also rebuilt in silico from genomic sequences of another branchiopod, a chelicerate and two nematodes. These sequences were included in updated datasets to build phylogenies of the CHH family in pancrustaceans. These phylogenies suggest that peptides found in Branchiopoda and Collembola are more closely related to insect ITPs than to crustacean CHHs. Datasets were also used to support a phylogenetic hypothesis about pancrustacean relationships, which, in addition to gene structures, allowed us to propose two evolutionary scenarios of this multigenic family in ecdysozoans. Conclusions Evolutionary scenarios suggest that CHH family genes of ecdysozoans originate from an ancestral two-exon gene, and genes of arthropods from a three-exon one. In malacostracans, the evolution of the CHH family has involved several duplication, insertion or deletion events, leading to neuropeptides with a wide variety of functions, as observed in decapods. This family could thus constitute a promising model to investigate the links between gene duplications and functional divergence.

Advances in the diagnosis of hereditary kidney cancer: Initial results of a multigene panel test.

Science.gov (United States)

Nguyen, Kevin A; Syed, Jamil S; Espenschied, Carin R; LaDuca, Holly; Bhagat, Ansh M; Suarez-Sarmiento, Alfredo; O'Rourke, Timothy K; Brierley, Karina L; Hofstatter, Erin W; Shuch, Brian

2017-11-15

Panel testing has been recently introduced to evaluate hereditary cancer; however, limited information is available regarding its use in kidney cancer. The authors retrospectively reviewed test results and clinical data from patients who underwent targeted multigene panel testing of up to 19 genes associated with hereditary kidney cancer from 2013 to 2016. The frequency of positive (mutation/variant likely pathogenic), inconclusive (variant of unknown significance), and negative results was evaluated. A logistic regression analysis evaluated predictive factors for a positive test. Patients (n = 1235) had a median age at diagnosis of 46 years, which was significantly younger than the US population of individuals with kidney cancer (P kidney cancer. Panel tests may be particularly useful for patients who lack distinguishing clinical characteristics of known hereditary kidney cancer syndromes. The current results support the use of early age of onset for genetic counseling and/or testing. Cancer 2017;123:4363-71. © 2017 American Cancer Society. © 2017 American Cancer Society.

Lentiviral gene ontology (LeGO) vectors equipped with novel drug-selectable fluorescent proteins: new building blocks for cell marking and multi-gene analysis.

Science.gov (United States)

Weber, K; Mock, U; Petrowitz, B; Bartsch, U; Fehse, B

2010-04-01

Vector-encoded fluorescent proteins (FPs) facilitate unambiguous identification or sorting of gene-modified cells by fluorescence-activated cell sorting (FACS). Exploiting this feature, we have recently developed lentiviral gene ontology (LeGO) vectors (www.LentiGO-Vectors.de) for multi-gene analysis in different target cells. In this study, we extend the LeGO principle by introducing 10 different drug-selectable FPs created by fusing one of the five selection marker (protecting against blasticidin, hygromycin, neomycin, puromycin and zeocin) and one of the five FP genes (Cerulean, eGFP, Venus, dTomato and mCherry). All tested fusion proteins allowed both fluorescence-mediated detection and drug-mediated selection of LeGO-transduced cells. Newly generated codon-optimized hygromycin- and neomycin-resistance genes showed improved expression as compared with their ancestors. New LeGO constructs were produced at titers >10(6) per ml (for non-concentrated supernatants). We show efficient combinatorial marking and selection of various cells, including mesenchymal stem cells, simultaneously transduced with different LeGO constructs. Inclusion of the cytomegalovirus early enhancer/chicken beta-actin promoter into LeGO vectors facilitated robust transgene expression in and selection of neural stem cells and their differentiated progeny. We suppose that the new drug-selectable markers combining advantages of FACS and drug selection are well suited for numerous applications and vector systems. Their inclusion into LeGO vectors opens new possibilities for (stem) cell tracking and functional multi-gene analysis.

C-State: an interactive web app for simultaneous multi-gene visualization and comparative epigenetic pattern search.

Science.gov (United States)

Sowpati, Divya Tej; Srivastava, Surabhi; Dhawan, Jyotsna; Mishra, Rakesh K

2017-09-13

Comparative epigenomic analysis across multiple genes presents a bottleneck for bench biologists working with NGS data. Despite the development of standardized peak analysis algorithms, the identification of novel epigenetic patterns and their visualization across gene subsets remains a challenge. We developed a fast and interactive web app, C-State (Chromatin-State), to query and plot chromatin landscapes across multiple loci and cell types. C-State has an interactive, JavaScript-based graphical user interface and runs locally in modern web browsers that are pre-installed on all computers, thus eliminating the need for cumbersome data transfer, pre-processing and prior programming knowledge. C-State is unique in its ability to extract and analyze multi-gene epigenetic information. It allows for powerful GUI-based pattern searching and visualization. We include a case study to demonstrate its potential for identifying user-defined epigenetic trends in context of gene expression profiles.

Repair of DNA damage in the human metallothionein gene family

International Nuclear Information System (INIS)

Leadon, S.A.; Snowden, M.M.

1987-01-01

In order to distinguish enhanced repair of a sequence due to its transcriptional activity from enhanced repair due to chromatin alterations brought about by integration of a sequence into the genome, we have investigated the repair of damage both in endogenous genes and in cell lines that contain an integrated gene with an inducible promoter. The endogenous genes we are studying are the metallothioneins (MTs), a multigene family in man consisting of about 10-12 members. Cultured cells were exposed to 10-J/m 2 uv light and allowed to repair in the presence of bromodeoxyuridine. The DNA was then isolated, digested with Eco RI, and fully hybrid density DNA made by semiconservative synthesis was separated from unreplicated DNA by centrifugation in CsCl density gradients. Unreplicated, parental-density DNA was then reacted with a monoclonal antibody against bromouracil. 1 ref., 1 fig., 1 tab

The linked units of 5S rDNA and U1 snDNA of razor shells (Mollusca: Bivalvia: Pharidae).

Science.gov (United States)

Vierna, J; Jensen, K T; Martínez-Lage, A; González-Tizón, A M

2011-08-01

The linkage between 5S ribosomal DNA and other multigene families has been detected in many eukaryote lineages, but whether it provides any selective advantage remains unclear. In this work, we report the occurrence of linked units of 5S ribosomal DNA (5S rDNA) and U1 small nuclear DNA (U1 snDNA) in 10 razor shell species (Mollusca: Bivalvia: Pharidae) from four different genera. We obtained several clones containing partial or complete repeats of both multigene families in which both types of genes displayed the same orientation. We provide a comprehensive collection of razor shell 5S rDNA clones, both with linked and nonlinked organisation, and the first bivalve U1 snDNA sequences. We predicted the secondary structures and characterised the upstream and downstream conserved elements, including a region at -25 nucleotides from both 5S rDNA and U1 snDNA transcription start sites. The analysis of 5S rDNA showed that some nontranscribed spacers (NTSs) are more closely related to NTSs from other species (and genera) than to NTSs from the species they were retrieved from, suggesting birth-and-death evolution and ancestral polymorphism. Nucleotide conservation within the functional regions suggests the involvement of purifying selection, unequal crossing-overs and gene conversions. Taking into account this and other studies, we discuss the possible mechanisms by which both multigene families could have become linked in the Pharidae lineage. The reason why 5S rDNA is often found linked to other multigene families seems to be the result of stochastic processes within genomes in which its high copy number is determinant.

Elongation Factor-1α Accurately Reconstructs Relationships Amongst Psyllid Families (Hemiptera: Psylloidea), with Possible Diagnostic Implications.

Science.gov (United States)

Martoni, Francesco; Bulman, Simon R; Pitman, Andrew; Armstrong, Karen F

2017-12-05

The superfamily Psylloidea (Hemiptera: Sternorrhyncha) lacks a robust multigene phylogeny. This impedes our understanding of the evolution of this group of insects and, consequently, an accurate identification of individuals, of their plant host associations, and their roles as vectors of economically important plant pathogens. The conserved nuclear gene elongation factor-1 alpha (EF-1α) has been valuable as a higher-level phylogenetic marker in insects and it has also been widely used to investigate the evolution of intron/exon structure. To explore evolutionary relationships among Psylloidea, polymerase chain reaction amplification and nucleotide sequencing of a 250-bp EF-1α gene fragment was applied to psyllids belonging to five different families. Introns were detected in three individuals belonging to two families. The nine genera belonging to the family Aphalaridae all lacked introns, highlighting the possibility of using intron presence/absence as a diagnostic tool at a family level. When paired with cytochrome oxidase I gene sequences, the 250 bp EF-1α sequence appeared to be a very promising higher-level phylogenetic marker for psyllids. © The Author(s) 2017. Published by Oxford University Press on behalf of Entomological Society of America. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Development of multigene expression signature maps at the protein level from digitized immunohistochemistry slides.

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Gregory J Metzger

Full Text Available Molecular classification of diseases based on multigene expression signatures is increasingly used for diagnosis, prognosis, and prediction of response to therapy. Immunohistochemistry (IHC is an optimal method for validating expression signatures obtained using high-throughput genomics techniques since IHC allows a pathologist to examine gene expression at the protein level within the context of histologically interpretable tissue sections. Additionally, validated IHC assays may be readily implemented as clinical tests since IHC is performed on routinely processed clinical tissue samples. However, methods have not been available for automated n-gene expression profiling at the protein level using IHC data. We have developed methods to compute expression level maps (signature maps of multiple genes from IHC data digitized on a commercial whole slide imaging system. Areas of cancer for these expression level maps are defined by a pathologist on adjacent, co-registered H&E slides, allowing assessment of IHC statistics and heterogeneity within the diseased tissue. This novel way of representing multiple IHC assays as signature maps will allow the development of n-gene expression profiling databases in three dimensions throughout virtual whole organ reconstructions.

The γ-gliadin multigene family in common wheat (Triticum aestivum and its closely related species

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Chen Qing

2009-04-01

Full Text Available Abstract Background The unique properties of wheat flour primarily depend on gluten, which is the most important source of protein for human being. γ-Gliadins have been considered to be the most ancient of the wheat gluten family. The complex family structure of γ-gliadins complicates the determination of their function. Moreover, γ-gliadins contain several sets of celiac disease epitopes. However, no systematic research has been conducted yet. Results A total of 170 γ-gliadin genes were isolated from common wheat and its closely related species, among which 138 sequences are putatively functional. The ORF lengths of these sequences range from 678 to 1089 bp, and the repetitive region is mainly responsible for the size heterogeneity of γ-gliadins. The repeat motif P(Q/L/S/T/I/V/R/AF(S/Y/V/Q/I/C/LP(R/L/S/T/H/C/YQ1–2(P(S/L/T/A/F/HQQ1–2is repeated from 7 to 22 times. Sequence polymorphism and linkage disequilibrium analyses show that γ-gliadins are highly diverse. Phylogenic analyses indicate that there is no obvious discrimination between Sitopsis and Ae. tauschii at the Gli-1 loci, compared with diploid wheat. According to the number and placement of cysteine residues, we defined nine cysteine patterns and 17 subgroups. Alternatively, we classified γ-gliadins into two types based on the length of repetitive domain. Amino acid composition analyses indicate that there is a wide range of essential amino acids in γ-gliadins, and those γ-gliadins from subgroup SG-10 and SG-12 and γ-gliadins with a short repetitive domain are more nutritional. A screening of toxic epitopes shows that γ-gliadins with a pattern of C9 and γ-gliadins with a short repetitive domain almost lack any epitopes. Conclusion γ-Gliadin sequences in wheat and closely related Aegilops species are diverse. Each group/subgroup contributes differently to nutritional quality and epitope content. It is suggested that the genes with a short repetitive domain are more

Phylogenomic analysis of UDP glycosyltransferase 1 multigene family in Linum usitatissimum identified genes with varied expression patterns

Science.gov (United States)

2012-01-01

Background The glycosylation process, catalyzed by ubiquitous glycosyltransferase (GT) family enzymes, is a prevalent modification of plant secondary metabolites that regulates various functions such as hormone homeostasis, detoxification of xenobiotics and biosynthesis and storage of secondary metabolites. Flax (Linum usitatissimum L.) is a commercially grown oilseed crop, important because of its essential fatty acids and health promoting lignans. Identification and characterization of UDP glycosyltransferase (UGT) genes from flax could provide valuable basic information about this important gene family and help to explain the seed specific glycosylated metabolite accumulation and other processes in plants. Plant genome sequencing projects are useful to discover complexity within this gene family and also pave way for the development of functional genomics approaches. Results Taking advantage of the newly assembled draft genome sequence of flax, we identified 137 UDP glycosyltransferase (UGT) genes from flax using a conserved signature motif. Phylogenetic analysis of these protein sequences clustered them into 14 major groups (A-N). Expression patterns of these genes were investigated using publicly available expressed sequence tag (EST), microarray data and reverse transcription quantitative real time PCR (RT-qPCR). Seventy-three per cent of these genes (100 out of 137) showed expression evidence in 15 tissues examined and indicated varied expression profiles. The RT-qPCR results of 10 selected genes were also coherent with the digital expression analysis. Interestingly, five duplicated UGT genes were identified, which showed differential expression in various tissues. Of the seven intron loss/gain positions detected, two intron positions were conserved among most of the UGTs, although a clear relationship about the evolution of these genes could not be established. Comparison of the flax UGTs with orthologs from four other sequenced dicot genomes indicated that

Phylogenomic analysis of UDP glycosyltransferase 1 multigene family in Linum usitatissimum identified genes with varied expression patterns

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Barvkar Vitthal T

2012-05-01

Full Text Available Abstract Background The glycosylation process, catalyzed by ubiquitous glycosyltransferase (GT family enzymes, is a prevalent modification of plant secondary metabolites that regulates various functions such as hormone homeostasis, detoxification of xenobiotics and biosynthesis and storage of secondary metabolites. Flax (Linum usitatissimum L. is a commercially grown oilseed crop, important because of its essential fatty acids and health promoting lignans. Identification and characterization of UDP glycosyltransferase (UGT genes from flax could provide valuable basic information about this important gene family and help to explain the seed specific glycosylated metabolite accumulation and other processes in plants. Plant genome sequencing projects are useful to discover complexity within this gene family and also pave way for the development of functional genomics approaches. Results Taking advantage of the newly assembled draft genome sequence of flax, we identified 137 UDP glycosyltransferase (UGT genes from flax using a conserved signature motif. Phylogenetic analysis of these protein sequences clustered them into 14 major groups (A-N. Expression patterns of these genes were investigated using publicly available expressed sequence tag (EST, microarray data and reverse transcription quantitative real time PCR (RT-qPCR. Seventy-three per cent of these genes (100 out of 137 showed expression evidence in 15 tissues examined and indicated varied expression profiles. The RT-qPCR results of 10 selected genes were also coherent with the digital expression analysis. Interestingly, five duplicated UGT genes were identified, which showed differential expression in various tissues. Of the seven intron loss/gain positions detected, two intron positions were conserved among most of the UGTs, although a clear relationship about the evolution of these genes could not be established. Comparison of the flax UGTs with orthologs from four other sequenced dicot

Functional genomic analysis supports conservation of function among cellulose synthase-like a gene family members and suggests diverse roles of mannans in plants

DEFF Research Database (Denmark)

Liepman, Aaron H; Nairn, C Joseph; Willats, William G T

2007-01-01

from Arabidopsis (Arabidopsis thaliana), guar (Cyamopsis tetragonolobus), and Populus trichocarpa catalyze beta-1,4-mannan and glucomannan synthase reactions in vitro. Mannan polysaccharides and homologs of CslA genes appear to be present in all lineages of land plants analyzed to date. In many plants......, the CslA genes are members of extended multigene families; however, it is not known whether all CslA proteins are glucomannan synthases. CslA proteins from diverse land plant species, including representatives of the mono- and dicotyledonous angiosperms, gymnosperms, and bryophytes, were produced...... they are prevalent at cell junctions and in buds. Taken together, these results demonstrate that members of the CslA gene family from diverse plant species encode glucomannan synthases and support the hypothesis that mannans function in metabolic networks devoted to other cellular processes in addition to cell wall...

High incidence of interchromosomal transpositions in the evolutionary history of a subset of or genes in Drosophila.

Science.gov (United States)

Conceição, Inês C; Aguadé, Montserrat

2008-04-01

In insects, the odorant receptor (Or) multigene family is an intermediate-sized family with genes present in all chromosomes, indicating that duplication followed by interchromosomal transposition played an important role in the early stages of the family evolution. Here, we have explored the occurrence of interchromosomal transpositions in more recent stages through the comparative analysis of a subset of Or genes in Drosophila, where the gene content of chromosomal arms is highly conserved. The studied subset consisted of 11 Or genes located on the left arm of chromosome 3 (Muller's D element) in D. melanogaster. Our study focused on the number and chromosomal arm location of these members of the family across the 12 Drosophila species with complete genome sequences. In contrast to previous results from in situ hybridization comparative mapping that were mainly based on single-copy genes, our study, based on members of a multigene family of moderate size, revealed repeated interchromosomal transposition events and a complex history of some of the studied genes.

Evaluation of liquefaction potential of soil based on standard penetration test using multi-gene genetic programming model

Science.gov (United States)

Muduli, Pradyut; Das, Sarat

2014-06-01

This paper discusses the evaluation of liquefaction potential of soil based on standard penetration test (SPT) dataset using evolutionary artificial intelligence technique, multi-gene genetic programming (MGGP). The liquefaction classification accuracy (94.19%) of the developed liquefaction index (LI) model is found to be better than that of available artificial neural network (ANN) model (88.37%) and at par with the available support vector machine (SVM) model (94.19%) on the basis of the testing data. Further, an empirical equation is presented using MGGP to approximate the unknown limit state function representing the cyclic resistance ratio (CRR) of soil based on developed LI model. Using an independent database of 227 cases, the overall rates of successful prediction of occurrence of liquefaction and non-liquefaction are found to be 87, 86, and 84% by the developed MGGP based model, available ANN and the statistical models, respectively, on the basis of calculated factor of safety (F s) against the liquefaction occurrence.

FROM FAMILIES SYNDROMES TO GENES… THE FIRST CLINICAL AND GENETIC CHARACTERIZATIONS OF HEREDITARY SYNDROMES PREDISPOSING TO CANCER: WHAT WAS THE BEGINNING?

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Charité Ricker, MS, LCGC

2017-07-01

Full Text Available Assessment for hereditary susceptibility to cancer is considered standard of care, as it impacts not only a clinician's understanding of cancer causation but also options for prevention and treatment. The roots of our current knowledge about hereditary cancer syndromes can be traced to early reports of families with striking cancer histories. The purpose of this article is to review the historical timeline of the two most commonly assessed hereditary cancer syndromes, hereditary breast and ovarian cancer (HBOC and Lynch syndrome (LS. While many individuals identified with these syndromes today come from families similar to those seen in the early historical reports, our understanding of these syndromes, their expression and penetrance, has evolved over the years. In addition, the increased utilization of broad multi-gene panels continues to add to the complexity of defining associated phenotypes. These findings can lead to challenges with translating results to clinical management for patients and families, but also provide an opportunity to continue to gain understanding of the genetic underpinnings of cancer etiology.

Insights into the Evolution of a Snake Venom Multi-Gene Family from the Genomic Organization of Echis ocellatus SVMP Genes

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Libia Sanz

2016-07-01

Full Text Available The molecular events underlying the evolution of the Snake Venom Metalloproteinase (SVMP family from an A Disintegrin And Metalloproteinase (ADAM ancestor remain poorly understood. Comparative genomics may provide decisive information to reconstruct the evolutionary history of this multi-locus toxin family. Here, we report the genomic organization of Echis ocellatus genes encoding SVMPs from the PII and PI classes. Comparisons between them and between these genes and the genomic structures of Anolis carolinensis ADAM28 and E. ocellatus PIII-SVMP EOC00089 suggest that insertions and deletions of intronic regions played key roles along the evolutionary pathway that shaped the current diversity within the multi-locus SVMP gene family. In particular, our data suggest that emergence of EOC00028-like PI-SVMP from an ancestral PII(e/d-type SVMP involved splicing site mutations that abolished both the 3′ splice AG acceptor site of intron 12* and the 5′ splice GT donor site of intron 13*, and resulted in the intronization of exon 13* and the consequent destruction of the structural integrity of the PII-SVMP characteristic disintegrin domain.

Expressional and Biochemical Characterization of Rice Disease Resistance Gene Xa3/Xa26 Family

Institute of Scientific and Technical Information of China (English)

Songjie Xu; Yinglong Cao; Xianghua Li; Shiping Wang

2007-01-01

The rice (Oryza sativa L.) Xa3/Xa26 gene, conferring race-specific resistance to bacterial blight disease and encoding a leucine-rich repeat (LRR) receptor kinase-like protein, belongs to a multigene family consisting of tandem clustered homologous genes, colocalizing with several uncharacterized genes for resistance to bacterial blight or fungal blast. To provide more information on the expressional and biochemical characteristics of the Xa3/Xa26 family, we analyzed the family members. Four Xa3/Xa26 family members in the indica rice variety Teqing, which carries a bacterial blight resistance gene with a chromosomal location tightly linked to Xa3/Xa26, and five Xa3/Xa26 family members in the japonica rice variety Nipponbare, which carries at least one uncharacterized blast resistance gene, were constitutively expressed in leaf tissue. The result suggests that some of the family members may be candidates of these uncharacterized resistance genes. At least five putative N-glycosylation sites in the LRR domain of XA3/XA26 protein are not glycosylated. The XA3/XA26 and its family members MRKa and MRKc all possess the consensus sequences of paired cysteines, which putatively function in dimerization of the receptor proteins for signal transduction, immediately before the first LRR and immediately after the last LRR. However, no homo-dimer between the XA3/XA26 molecules or hetero-dimer between XA3/XA26 and MRKa or MRKc were formed, indicating that XA3/XA26 protein might function either as a monomer or a hetero-dimer formed with other protein outside of the XA3/XA26 family. These results provide valuable information for further extensive investigation into this multiple protein family.

Comparative study of human mitochondrial proteome reveals extensive protein subcellular relocalization after gene duplications

Directory of Open Access Journals (Sweden)

Huang Yong

2009-11-01

Full Text Available Abstract Background Gene and genome duplication is the principle creative force in evolution. Recently, protein subcellular relocalization, or neolocalization was proposed as one of the mechanisms responsible for the retention of duplicated genes. This hypothesis received support from the analysis of yeast genomes, but has not been tested thoroughly on animal genomes. In order to evaluate the importance of subcellular relocalizations for retention of duplicated genes in animal genomes, we systematically analyzed nuclear encoded mitochondrial proteins in the human genome by reconstructing phylogenies of mitochondrial multigene families. Results The 456 human mitochondrial proteins selected for this study were clustered into 305 gene families including 92 multigene families. Among the multigene families, 59 (64% consisted of both mitochondrial and cytosolic (non-mitochondrial proteins (mt-cy families while the remaining 33 (36% were composed of mitochondrial proteins (mt-mt families. Phylogenetic analyses of mt-cy families revealed three different scenarios of their neolocalization following gene duplication: 1 relocalization from mitochondria to cytosol, 2 from cytosol to mitochondria and 3 multiple subcellular relocalizations. The neolocalizations were most commonly enabled by the gain or loss of N-terminal mitochondrial targeting signals. The majority of detected subcellular relocalization events occurred early in animal evolution, preceding the evolution of tetrapods. Mt-mt protein families showed a somewhat different pattern, where gene duplication occurred more evenly in time. However, for both types of protein families, most duplication events appear to roughly coincide with two rounds of genome duplications early in vertebrate evolution. Finally, we evaluated the effects of inaccurate and incomplete annotation of mitochondrial proteins and found that our conclusion of the importance of subcellular relocalization after gene duplication on

Multidrug resistance gene expression is controlled by steroid hormones in the secretory epithelium of the uterus

NARCIS (Netherlands)

Arceci, R. J.; Baas, F.; Raponi, R.; Horwitz, S. B.; Housman, D.; Croop, J. M.

1990-01-01

The multidrug resistance (mdr) gene family has been shown to encode a membrane glycoprotein, termed the P-glycoprotein, which functions as a drug efflux pump with broad substrate specificity. This multigene family is expressed in a tissue-specific fashion in a wide variety of normal and neoplastic

Molecular cloning of RBCS genes in Selaginella and the evolution of the rbcS gene family

Directory of Open Access Journals (Sweden)

Wang Bo

2015-01-01

Full Text Available Rubisco small subunits (RBCS are encoded by a nuclear rbcS multigene family in higher plants and green algae. However, owing to the lack of rbcS sequences in lycophytes, the characteristics of rbcS genes in lycophytes is unclear. Recently, the complete genome sequence of the lycophyte Selaginella moellendorffii provided the first insight into the rbcS gene family in lycophytes. To understand further the characteristics of rbcS genes in other Selaginella, the full length of rbcS genes (rbcS1 and rbcS2 from two other Selaginella species were isolated. Both rbcS1 and rbcS2 genes shared more than 97% identity among three Selaginella species. RBCS proteins from Selaginella contained the Pfam RBCS domain F00101, which was a major domain of other plant RBCS proteins. To explore the evolution of the rbcS gene family across Selaginella and other plants, we identified and performed comparative analysis of the rbcS gene family among 16 model plants based on a genome-wide analysis. The results showed that (i two rbcS genes were obtained in Selaginella, which is the second fewest number of rbcS genes among the 16 representative plants; (ii an expansion of rbcS genes occurred in the moss Physcomitrella patens; (iii only RBCS proteins from angiosperms contained the Pfam PF12338 domains, and (iv a pattern of concerted evolution existed in the rbcS gene family. Our study provides new insights into the evolution of the rbcS gene family in Selaginella and other plants.

An improved taxonomic sampling is a necessary but not sufficient condition for resolving inter-families relationships in Caridean decapods.

Science.gov (United States)

Aznar-Cormano, L; Brisset, J; Chan, T-Y; Corbari, L; Puillandre, N; Utge, J; Zbinden, M; Zuccon, D; Samadi, S

2015-04-01

During the past decade, a large number of multi-gene analyses aimed at resolving the phylogenetic relationships within Decapoda. However relationships among families, and even among sub-families, remain poorly defined. Most analyses used an incomplete and opportunistic sampling of species, but also an incomplete and opportunistic gene selection among those available for Decapoda. Here we test in the Caridea if improving the taxonomic coverage following the hierarchical scheme of the classification, as it is currently accepted, provides a better phylogenetic resolution for the inter-families relationships. The rich collections of the Muséum National d'Histoire Naturelle de Paris are used for sampling as far as possible at least two species of two different genera for each family or subfamily. All potential markers are tested over this sampling. For some coding genes the amplification success varies greatly among taxa and the phylogenetic signal is highly saturated. This result probably explains the taxon-heterogeneity among previously published studies. The analysis is thus restricted to the genes homogeneously amplified over the whole sampling. Thanks to the taxonomic sampling scheme the monophyly of most families is confirmed. However the genes commonly used in Decapoda appear non-adapted for clarifying inter-families relationships, which remain poorly resolved. Genome-wide analyses, like transcriptome-based exon capture facilitated by the new generation sequencing methods might provide a sounder approach to resolve deep and rapid radiations like the Caridea.

Full-Length Venom Protein cDNA Sequences from Venom-Derived mRNA: Exploring Compositional Variation and Adaptive Multigene Evolution.

Science.gov (United States)

Modahl, Cassandra M; Mackessy, Stephen P

2016-06-01

Envenomation of humans by snakes is a complex and continuously evolving medical emergency, and treatment is made that much more difficult by the diverse biochemical composition of many venoms. Venomous snakes and their venoms also provide models for the study of molecular evolutionary processes leading to adaptation and genotype-phenotype relationships. To compare venom complexity and protein sequences, venom gland transcriptomes are assembled, which usually requires the sacrifice of snakes for tissue. However, toxin transcripts are also present in venoms, offering the possibility of obtaining cDNA sequences directly from venom. This study provides evidence that unknown full-length venom protein transcripts can be obtained from the venoms of multiple species from all major venomous snake families. These unknown venom protein cDNAs are obtained by the use of primers designed from conserved signal peptide sequences within each venom protein superfamily. This technique was used to assemble a partial venom gland transcriptome for the Middle American Rattlesnake (Crotalus simus tzabcan) by amplifying sequences for phospholipases A2, serine proteases, C-lectins, and metalloproteinases from within venom. Phospholipase A2 sequences were also recovered from the venoms of several rattlesnakes and an elapid snake (Pseudechis porphyriacus), and three-finger toxin sequences were recovered from multiple rear-fanged snake species, demonstrating that the three major clades of advanced snakes (Elapidae, Viperidae, Colubridae) have stable mRNA present in their venoms. These cDNA sequences from venom were then used to explore potential activities derived from protein sequence similarities and evolutionary histories within these large multigene superfamilies. Venom-derived sequences can also be used to aid in characterizing venoms that lack proteomic profiles and identify sequence characteristics indicating specific envenomation profiles. This approach, requiring only venom, provides

Assignment of the human UDP glucuronosyltransferase gene (UGT1A1) to chromosome region 2q37

NARCIS (Netherlands)

van Es, H. H.; Bout, A.; Liu, J.; Anderson, L.; Duncan, A. M.; Bosma, P.; Oude Elferink, R.; Jansen, P. L.; Chowdhury, J. R.; Schurr, E.

1993-01-01

UDP glucuronosyltransferases (UGTs) comprise a multigene family of drug-metabolizing enzymes. The sub-family of UGTs that conjugate bilirubin and phenolic compounds with glucuronic acid has been termed UGT1A1. In man, UGT1A1 isoforms are encoded by a single gene, UGT1A1. Protein isoforms encoded by

A comprehensive evaluation of rodent malaria parasite genomes and gene expression

KAUST Repository

Otto, Thomas D; Bö hme, Ulrike; Jackson, Andrew P; Hunt, Martin; Franke-Fayard, Blandine; Hoeijmakers, Wieteke A M; Religa, Agnieszka A; Robertson, Lauren; Sanders, Mandy; Ogun, Solabomi A; Cunningham, Deirdre; Erhart, Annette; Billker, Oliver; Khan, Shahid M; Stunnenberg, Hendrik G; Langhorne, Jean; Holder, Anthony A; Waters, Andrew P; Newbold, Chris I; Pain, Arnab; Berriman, Matthew; Janse, Chris J

2014-01-01

Plasmodium biology. Genotypic diversity between P. chabaudi isolates makes this species an excellent parasite to study genotype-phenotype relationships. The improved classification of multigene families will enhance studies on the role of (variant) exported

Homology-dependent Gene Silencing in Paramecium

Science.gov (United States)

Ruiz, Françoise; Vayssié, Laurence; Klotz, Catherine; Sperling, Linda; Madeddu, Luisa

1998-01-01

Microinjection at high copy number of plasmids containing only the coding region of a gene into the Paramecium somatic macronucleus led to a marked reduction in the expression of the corresponding endogenous gene(s). The silencing effect, which is stably maintained throughout vegetative growth, has been observed for all Paramecium genes examined so far: a single-copy gene (ND7), as well as members of multigene families (centrin genes and trichocyst matrix protein genes) in which all closely related paralogous genes appeared to be affected. This phenomenon may be related to posttranscriptional gene silencing in transgenic plants and quelling in Neurospora and allows the efficient creation of specific mutant phenotypes thus providing a potentially powerful tool to study gene function in Paramecium. For the two multigene families that encode proteins that coassemble to build up complex subcellular structures the analysis presented herein provides the first experimental evidence that the members of these gene families are not functionally redundant. PMID:9529389

Reticulated Origin of Domesticated Emmer Wheat Supports a Dynamic Model for the Emergence of Agriculture in the Fertile Crescent

Czech Academy of Sciences Publication Activity Database

Civáň, P.; Ivaničová, Zuzana; Brown, T.A.

2013-01-01

Roč. 8, č. 11 (2013) E-ISSN 1932-6203 Institutional research plan: CEZ:AV0Z50380511 Keywords : RNA MULTIGENE FAMILY * TRITICUM-DICOCCOIDES * PHYLOGENETIC NETWORKS Subject RIV: EF - Botanics Impact factor: 3.534, year: 2013

Five Drosophila Genomes Reveal Nonneutral Evolution and the Signature of Host Specialization in the Chemoreceptor Superfamily

OpenAIRE

McBride, Carolyn S.; Arguello, J. Roman

2007-01-01

The insect chemoreceptor superfamily comprises the olfactory receptor (Or) and gustatory receptor (Gr) multigene families. These families give insects the ability to smell and taste chemicals in the environment and are thus rich resources for linking molecular evolutionary and ecological processes. Although dramatic differences in family size among distant species and high divergence among paralogs have led to the belief that the two families evolve rapidly, a lack of evolutionary data over s...

High Frequency of Interactions between Lung Cancer Susceptibility Genes in the Mouse : Mapping of Sluc5 to Sluc14

NARCIS (Netherlands)

Fijneman, Remond J.A.; Jansen, Ritsert C.; Valk, Martin A. van der; Demant, Peter

1998-01-01

Although several genes that cause monogenic familial cancer syndromes have been identified, susceptibility to sporadic cancer remains unresolved. Animal experiments have demonstrated multigenic control of tumor susceptibility. Recently, we described four mouse lung cancer susceptibility (Sluc) loci,

A multigene prognostic assay for selection of adjuvant chemotherapy in patients with T3, stage II colon cancer: impact on quality-adjusted life expectancy and costs.

Science.gov (United States)

Hornberger, John; Lyman, Gary H; Chien, Rebecca; Meropol, Neal J

2012-12-01

Uncertainty exists regarding appropriate and affordable use of adjuvant chemotherapy in stage II colon cancer (T3, proficient DNA mismatch repair). This study aimed to estimate the effectiveness and costs from a US societal perspective of a multigene recurrence score (RS) assay for patients recently diagnosed with stage II colon cancer (T3, proficient DNA mismatch repair) eligible for adjuvant chemotherapy. RS was compared with guideline-recommended clinicopathological factors (tumor stage, lymph nodes examined, tumor grade, and lymphovascular invasion) by using a state-transition (Markov) lifetime model. Data were obtained from published literature, a randomized controlled trial (QUick And Simple And Reliable) of adjuvant chemotherapy, and rates of chemotherapy use from the National Cooperative Cancer Network Colon/Rectum Cancer Outcomes study. Life-years, quality-adjusted life expectancy, and lifetime costs were examined. The RS is projected to reduce adjuvant chemotherapy use by 17% compared with current treatment patterns and to increase quality-adjusted life expectancy by an average of 0.035 years. Direct medical costs are expected to decrease by an average of $2971 per patient. The assay was cost saving for all subgroups of patients stratified by clinicopathologic factors. The most influential variables affecting treatment decisions were projected years of life remaining, recurrence score, and patients' disutilities associated with adjuvant chemotherapy. Use of the multigene RS to assess recurrence risk after surgery in stage II colon cancer (T3, proficient DNA mismatch repair) may reduce the use of adjuvant chemotherapy without decreasing quality-adjusted life expectancy and be cost saving from a societal perspective. These findings need to be validated in additional cohorts, including studies of clinical practice as assay use diffuses into nonacademic settings. Copyright © 2012 International Society for Pharmacoeconomics and Outcomes Research (ISPOR

Chromosomal Mapping of Repetitive DNAs in the Grasshopper Abracris flavolineata Reveal Possible Ancestry of the B Chromosome and H3 Histone Spreading

Science.gov (United States)

Bueno, Danilo; Palacios-Gimenez, Octavio Manuel; Cabral-de-Mello, Diogo Cavalcanti

2013-01-01

Supernumerary chromosomes (B chromosomes) occur in approximately 15% of eukaryote species. Although these chromosomes have been extensively studied, knowledge concerning their specific molecular composition is lacking in most cases. The accumulation of repetitive DNAs is one remarkable characteristic of B chromosomes, and the occurrence of distinct types of multigene families, satellite DNAs and some transposable elements have been reported. Here, we describe the organization of repetitive DNAs in the A complement and B chromosome system in the grasshopper species Abracris flavolineata using classical cytogenetic techniques and FISH analysis using probes for five multigene families, telomeric repeats and repetitive C0t-1 DNA fractions. The 18S rRNA and H3 histone multigene families are highly variable and well distributed in A. flavolineata chromosomes, which contrasts with the conservation of U snRNA genes and less variable distribution of 5S rDNA sequences. The H3 histone gene was an extensively distributed with clusters occurring in all chromosomes. Repetitive DNAs were concentrated in C-positive regions, including the pericentromeric region and small chromosomal arms, with some occurrence in C-negative regions, but abundance was low in the B chromosome. Finally, the first demonstration of the U2 snRNA gene in B chromosomes in A. flavolineata may shed light on its possible origin. These results provide new information regarding chromosomal variability for repetitive DNAs in grasshoppers and the specific molecular composition of B chromosomes. PMID:23826099

The cinnamyl alcohol dehydrogenase (CAD gene family in flax (Linum usitatissimum L.: Insight from expression profiling of cads induced by elicitors in cultured flax cells

Directory of Open Access Journals (Sweden)

Eom Hee Seung

2016-01-01

Full Text Available Cinnamyl alcohol dehydrogenase (CAD is a key enzyme in the biosynthesis of lignin and lignans as it catalyzes the final step of monolignol biosynthesis, using NADPH as a cofactor. In higher plants, CAD is encoded by a multigene family consisting of three major classes. Based on the recently released flax (Linum usitatissimum L. whole-genome sequences, in this study we identified six CAD family genes that contain an ADH_N domain and an ADH_zinc_N domain, which suggests that the putative flax CADs (LuCADs are zinc-dependent alcohol dehydrogenases and members of the plant CAD family. In addition, expression analysis using quantitative real-time PCR revealed spatial variations in the expression of LuCADs in different organs. Comparative analysis between LuCAD enzymatic activity and LuCAD transcripts indicates that the variation of LuCAD enzymatic activities by elicitors is reflected by transcription of LuCADs in flax suspension-cultured cells. Taken together, our genome-wide analysis of CAD genes and the expression profiling of these genes provide valuable information for understanding the function of CADs, and will assist future studies on the physiological role of monolignols associated with plant defense.

Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders.

Science.gov (United States)

Mallett, Andrew J; McCarthy, Hugh J; Ho, Gladys; Holman, Katherine; Farnsworth, Elizabeth; Patel, Chirag; Fletcher, Jeffery T; Mallawaarachchi, Amali; Quinlan, Catherine; Bennetts, Bruce; Alexander, Stephen I

2017-12-01

Inherited kidney disease encompasses a broad range of disorders, with both multiple genes contributing to specific phenotypes and single gene defects having multiple clinical presentations. Advances in sequencing capacity may allow a genetic diagnosis for familial renal disease, by testing the increasing number of known causative genes. However, there has been limited translation of research findings of causative genes into clinical settings. Here, we report the results of a national accredited diagnostic genetic service for familial renal disease. An expert multidisciplinary team developed a targeted exomic sequencing approach with ten curated multigene panels (207 genes) and variant assessment individualized to the patient's phenotype. A genetic diagnosis (pathogenic genetic variant[s]) was identified in 58 of 135 families referred in two years. The genetic diagnosis rate was similar between families with a pediatric versus adult proband (46% vs 40%), although significant differences were found in certain panels such as atypical hemolytic uremic syndrome (88% vs 17%). High diagnostic rates were found for Alport syndrome (22 of 27) and tubular disorders (8 of 10), whereas the monogenic diagnostic rate for congenital anomalies of the kidney and urinary tract was one of 13. Quality reporting was aided by a strong clinical renal and genetic multidisciplinary committee review. Importantly, for a diagnostic service, few variants of uncertain significance were found with this targeted, phenotype-based approach. Thus, use of targeted massively parallel sequencing approaches in inherited kidney disease has a significant capacity to diagnose the underlying genetic disorder across most renal phenotypes. Copyright © 2017 International Society of Nephrology. Published by Elsevier Inc. All rights reserved.

Crystallization and preliminary crystallographic studies of human kallikrein 7, a serine protease of the multigene kallikrein family

Energy Technology Data Exchange (ETDEWEB)

Fernández, Israel S. [Departamento de Ciencia de Proteínas, Centro de Investigaciones Biológicas-CSIC, Ramiro de Maeztu 9, 28040 Madrid (Spain); Ständker, Ludger [Departamento de Ciencia de Proteínas, Centro de Investigaciones Biológicas-CSIC, Ramiro de Maeztu 9, 28040 Madrid (Spain); Hannover Medical School, Center of Pharmacology, 30625 Hannover (Germany); Forssmann, Wolf-Georg [Hannover Medical School, Center of Pharmacology, 30625 Hannover (Germany); Giménez-Gallego, Guillermo; Romero, Antonio, E-mail: romero@cib.csic.es [Departamento de Ciencia de Proteínas, Centro de Investigaciones Biológicas-CSIC, Ramiro de Maeztu 9, 28040 Madrid (Spain)

2007-08-01

The cloning, expression, purification and crystallization of recombinant human kallikrein 7, directly synthesized in the active form in E. coli, is described. Diffraction data were collected to 2.8 Å resolution from native crystals. Human kallikreins are a group of serine proteases of high sequence homology whose genes are grouped as a single cluster at chromosome 19. Although the physiological roles of kallikreins are generally still unknown, members of the kallikrein family have been clearly implicated in pathological situations such as cancer and psoriasis. Human kallikrein 7 (hK7) has been shown to be involved in pathological keratinization, psoriasis and ovarian cancer. In order to gain insight into the molecular structure of this protein, hK7 was crystallized after recombinant production in its folded and active form using a periplasmic secretion vector in Escherichia coli. The crystals belonged to the rhombohedral space group H32 and diffracted to 2.8 Å. The phase problem was solved by molecular replacement using the mouse kallikrein-related protein neuropsin. Completion of the model and structure refinement are under way.

Contribution of nonneutralizing vaccine-elicited antibody activities to improved protective efficacy in rhesus macaques immunized with Tat/Env compared with multigenic vaccines.

Science.gov (United States)

Florese, Ruth H; Demberg, Thorsten; Xiao, Peng; Kuller, LaRene; Larsen, Kay; Summers, L Ebonita; Venzon, David; Cafaro, Aurelio; Ensoli, Barbara; Robert-Guroff, Marjorie

2009-03-15

Previously, chronic-phase protection against SHIV(89.6P) challenge was significantly greater in macaques primed with replicating adenovirus type 5 host range mutant (Ad5hr) recombinants encoding HIVtat and env and boosted with Tat and Env protein compared with macaques primed with multigenic adenovirus recombinants (HIVtat, HIVenv, SIVgag, SIVnef) and boosted with Tat, Env, and Nef proteins. The greater protection was correlated with Tat- and Env-binding Abs. Because the macaques lacked SHIV(89.6P)-neutralizing activity prechallenge, we investigated whether Ab-dependent cellular cytotoxicity (ADCC) and Ab-dependent cell-mediated viral inhibition (ADCVI) might exert a protective effect. We clearly show that Tat can serve as an ADCC target, although the Tat-specific activity elicited did not correlate with better protection. However, Env-specific ADCC activity was consistently higher in the Tat/Env group, with sustained cell killing postchallenge exhibited at higher levels (p vaccine regimens.

Mapping of Wnt-Frizzled interactions by multiplex CRISPR targeting of receptor gene families.

Science.gov (United States)

Voloshanenko, Oksana; Gmach, Philipp; Winter, Jan; Kranz, Dominique; Boutros, Michael

2017-11-01

Signaling pathway modules are often encoded by several closely related paralogous genes that can have redundant roles and are therefore difficult to analyze by loss-of-function analysis. A typical example is the Wnt signaling pathway, which in mammals is mediated by 19 Wnt ligands that can bind to 10 Frizzled (FZD) receptors. Although significant progress in understanding Wnt-FZD receptor interactions has been made in recent years, tools to generate systematic interaction maps have been largely lacking. Here we generated cell lines with multiplex mutant alleles of FZD1 , FZD2 , and FZD7 and demonstrate that these cells are unresponsive to canonical Wnt ligands. Subsequently, we performed genetic rescue experiments with combinations of FZDs and canonical Wnts to create a functional ligand-receptor interaction map. These experiments showed that whereas several Wnt ligands, such as Wnt3a, induce signaling through a broad spectrum of FZD receptors, others, such as Wnt8a, act through a restricted set of FZD genes. Together, our results map functional interactions of FZDs and 10 Wnt ligands and demonstrate how multiplex targeting by clustered regularly interspaced short palindromic repeat (CRISPR)/Cas9 can be used to systematically elucidate the functions of multigene families.-Voloshanenko, O., Gmach, P., Winter, J., Kranz, D., Boutros, M. Mapping of Wnt-Frizzled interactions by multiplex CRISPR targeting of receptor gene families. © The Author(s).

Multigene phylogeny of land plants with special reference to bryophytes and the earliest land plants.

Science.gov (United States)

Nickrent, D L; Parkinson, C L; Palmer, J D; Duff, R J

2000-12-01

A widely held view of land plant relationships places liverworts as the first branch of the land plant tree, whereas some molecular analyses and a cladistic study of morphological characters indicate that hornworts are the earliest land plants. To help resolve this conflict, we used parsimony and likelihood methods to analyze a 6, 095-character data set composed of four genes (chloroplast rbcL and small-subunit rDNA from all three plant genomes) from all major land plant lineages. In all analyses, significant support was obtained for the monophyly of vascular plants, lycophytes, ferns (including PSILOTUM: and EQUISETUM:), seed plants, and angiosperms. Relationships among the three bryophyte lineages were unresolved in parsimony analyses in which all positions were included and weighted equally. However, in parsimony and likelihood analyses in which rbcL third-codon-position transitions were either excluded or downweighted (due to apparent saturation), hornworts were placed as sister to all other land plants, with mosses and liverworts jointly forming the second deepest lineage. Decay analyses and Kishino-Hasegawa tests of the third-position-excluded data set showed significant support for the hornwort-basal topology over several alternative topologies, including the commonly cited liverwort-basal topology. Among the four genes used, mitochondrial small-subunit rDNA showed the lowest homoplasy and alone recovered essentially the same topology as the multigene tree. This molecular phylogeny presents new opportunities to assess paleontological evidence and morphological innovations that occurred during the early evolution of terrestrial plants.

Immune evasion of Plasmodium falciparum by RIFIN via inhibitory receptors

DEFF Research Database (Denmark)

Saito, Fumiji; Hirayasu, Kouyuki; Satoh, Takeshi

2017-01-01

, but the immune regulatory mechanisms used by P. falciparum remain largely unknown. Here we show that P. falciparum uses immune inhibitory receptors to achieve immune evasion. RIFIN proteins are products of a polymorphic multigene family comprising approximately 150-200 genes per parasite genome...

Chicken major histocompatibility complex-encoded B-G antigens are found on many cell types that are important for the immune system

DEFF Research Database (Denmark)

Salomonsen, J; Dunon, D; Skjødt, K

1991-01-01

B-G antigens are a polymorphic multigene family of cell surface molecules encoded by the chicken major histocompatibility complex (MHC). They have previously been described only on cells of the erythroid lineage. By using flow cytometry, section staining, and immunoprecipitation with monoclonal a...

Novel aspects of chlorophyll a/b-binding proteins

NARCIS (Netherlands)

Bassi, Roberto; Sandonà, Dorianna; Croce, Roberta

1997-01-01

The light-harvesting proteins (LHC) constitute a multigene family including, in higher plants, at least 12 members whose location, within the photosynthetic membrane, relative abundance and putative function appear to be very different. The major light-harvesting complex of photosystem II (LHCII) is

Monthly streamflow forecasting using continuous wavelet and multi-gene genetic programming combination

Science.gov (United States)

Hadi, Sinan Jasim; Tombul, Mustafa

2018-06-01

Streamflow is an essential component of the hydrologic cycle in the regional and global scale and the main source of fresh water supply. It is highly associated with natural disasters, such as droughts and floods. Therefore, accurate streamflow forecasting is essential. Forecasting streamflow in general and monthly streamflow in particular is a complex process that cannot be handled by data-driven models (DDMs) only and requires pre-processing. Wavelet transformation is a pre-processing technique; however, application of continuous wavelet transformation (CWT) produces many scales that cause deterioration in the performance of any DDM because of the high number of redundant variables. This study proposes multigene genetic programming (MGGP) as a selection tool. After the CWT analysis, it selects important scales to be imposed into the artificial neural network (ANN). A basin located in the southeast of Turkey is selected as case study to prove the forecasting ability of the proposed model. One month ahead downstream flow is used as output, and downstream flow, upstream, rainfall, temperature, and potential evapotranspiration with associated lags are used as inputs. Before modeling, wavelet coherence transformation (WCT) analysis was conducted to analyze the relationship between variables in the time-frequency domain. Several combinations were developed to investigate the effect of the variables on streamflow forecasting. The results indicated a high localized correlation between the streamflow and other variables, especially the upstream. In the models of the standalone layout where the data were entered to ANN and MGGP without CWT, the performance is found poor. In the best-scale layout, where the best scale of the CWT identified as the highest correlated scale is chosen and enters to ANN and MGGP, the performance increased slightly. Using the proposed model, the performance improved dramatically particularly in forecasting the peak values because of the inclusion

A family of diverse Kunitz inhibitors from Echinococcus granulosus potentially involved in host-parasite cross-talk.

Science.gov (United States)

González, Silvia; Fló, Martín; Margenat, Mariana; Durán, Rosario; González-Sapienza, Gualberto; Graña, Martín; Parkinson, John; Maizels, Rick M; Salinas, Gustavo; Alvarez, Beatriz; Fernández, Cecilia

2009-09-17

The cestode Echinococcus granulosus, the agent of hydatidosis/echinococcosis, is remarkably well adapted to its definitive host. However, the molecular mechanisms underlying the successful establishment of larval worms (protoscoleces) in the dog duodenum are unknown. With the aim of identifying molecules participating in the E. granulosus-dog cross-talk, we surveyed the transcriptomes of protoscoleces and protoscoleces treated with pepsin at pH 2. This analysis identified a multigene family of secreted monodomain Kunitz proteins associated mostly with pepsin/H(+)-treated worms, suggesting that they play a role at the onset of infection. We present the relevant molecular features of eight members of the E. granulosus Kunitz family (EgKU-1 - EgKU-8). Although diverse, the family includes three pairs of close paralogs (EgKU-1/EgKU-4; EgKU-3/EgKU-8; EgKU-6/EgKU-7), which would be the products of recent gene duplications. In addition, we describe the purification of EgKU-1 and EgKU-8 from larval worms, and provide data indicating that some members of the family (notably, EgKU-3 and EgKU-8) are secreted by protoscoleces. Detailed kinetic studies with native EgKU-1 and EgKU-8 highlighted their functional diversity. Like most monodomain Kunitz proteins, EgKU-8 behaved as a slow, tight-binding inhibitor of serine proteases, with global inhibition constants (K(I) (*)) versus trypsins in the picomolar range. In sharp contrast, EgKU-1 did not inhibit any of the assayed peptidases. Interestingly, molecular modeling revealed structural elements associated with activity in Kunitz cation-channel blockers. We propose that this family of inhibitors has the potential to act at the E. granulosus-dog interface and interfere with host physiological processes at the initial stages of infection.

Natural killer cell receptor genes in the family Equidae: not only Ly49.

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Jan Futas

Full Text Available Natural killer (NK cells have important functions in immunity. NK recognition in mammals can be mediated through killer cell immunoglobulin-like receptors (KIR and/or killer cell lectin-like Ly49 receptors. Genes encoding highly variable NK cell receptors (NKR represent rapidly evolving genomic regions. No single conservative model of NKR genes was observed in mammals. Single-copy low polymorphic NKR genes present in one mammalian species may expand into highly polymorphic multigene families in other species. In contrast to other non-rodent mammals, multiple Ly49-like genes appear to exist in the horse, while no functional KIR genes were observed in this species. In this study, Ly49 and KIR were sought and their evolution was characterized in the entire family Equidae. Genomic sequences retrieved showed the presence of at least five highly conserved polymorphic Ly49 genes in horses, asses and zebras. These findings confirmed that the expansion of Ly49 occurred in the entire family. Several KIR-like sequences were also identified in the genome of Equids. Besides a previously identified non-functional KIR-Immunoglobulin-like transcript fusion gene (KIR-ILTA and two putative pseudogenes, a KIR3DL-like sequence was analyzed. In contrast to previous observations made in the horse, the KIR3DL sequence, genomic organization and mRNA expression suggest that all Equids might produce a functional KIR receptor protein molecule with a single non-mutated immune tyrosine-based inhibition motif (ITIM domain. No evidence for positive selection in the KIR3DL gene was found. Phylogenetic analysis including rhinoceros and tapir genomic DNA and deduced amino acid KIR-related sequences showed differences between families and even between species within the order Perissodactyla. The results suggest that the order Perissodactyla and its family Equidae with expanded Ly49 genes and with a potentially functional KIR gene may represent an interesting model for

Natural Killer Cell Receptor Genes in the Family Equidae: Not only Ly49

Science.gov (United States)

Futas, Jan; Horin, Petr

2013-01-01

Natural killer (NK) cells have important functions in immunity. NK recognition in mammals can be mediated through killer cell immunoglobulin-like receptors (KIR) and/or killer cell lectin-like Ly49 receptors. Genes encoding highly variable NK cell receptors (NKR) represent rapidly evolving genomic regions. No single conservative model of NKR genes was observed in mammals. Single-copy low polymorphic NKR genes present in one mammalian species may expand into highly polymorphic multigene families in other species. In contrast to other non-rodent mammals, multiple Ly49-like genes appear to exist in the horse, while no functional KIR genes were observed in this species. In this study, Ly49 and KIR were sought and their evolution was characterized in the entire family Equidae. Genomic sequences retrieved showed the presence of at least five highly conserved polymorphic Ly49 genes in horses, asses and zebras. These findings confirmed that the expansion of Ly49 occurred in the entire family. Several KIR-like sequences were also identified in the genome of Equids. Besides a previously identified non-functional KIR-Immunoglobulin-like transcript fusion gene (KIR-ILTA) and two putative pseudogenes, a KIR3DL-like sequence was analyzed. In contrast to previous observations made in the horse, the KIR3DL sequence, genomic organization and mRNA expression suggest that all Equids might produce a functional KIR receptor protein molecule with a single non-mutated immune tyrosine-based inhibition motif (ITIM) domain. No evidence for positive selection in the KIR3DL gene was found. Phylogenetic analysis including rhinoceros and tapir genomic DNA and deduced amino acid KIR-related sequences showed differences between families and even between species within the order Perissodactyla. The results suggest that the order Perissodactyla and its family Equidae with expanded Ly49 genes and with a potentially functional KIR gene may represent an interesting model for evolutionary biology of

Sorghum Brown midrib 2 (Bmr2) gene encodes the major 4-coumarate Coenzyme A ligase involved in lignin synthesis

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Successful modification of plant cell wall composition without compromising plant integrity is dependent on being able to modify the expression of specific genes, but can be very challenging when the target genes are members of multigene families. 4-Coumarate:CoA ligase (4CL) catalyzes the formatio...

Identification of an Activating Chicken Ig-like Receptor Recognizing Avian Influenza Viruses

NARCIS (Netherlands)

Jansen, Christine A; van Haarlem, Daphne A; Sperling, Beatrice; van Kooten, Peter J; de Vries, Erik; Viertlboeck, Birgit C; Vervelde, Lonneke; Göbel, Thomas W

2016-01-01

Chicken Ig-like receptors (CHIRs) represent a multigene family encoded by the leukocyte receptor complex that encodes a variety of receptors that are subdivided into activating CHIR-A, inhibitory CHIR-B, and bifunctional CHIR-AB. Apart from CHIR-AB, which functions as an Fc receptor, CHIR ligands

Sink limitation induces the expression of multiple soybean vegetative lipoxygenase mRNAs while the endogenous jasmonic acid level remains low.

Science.gov (United States)

Bunker, T W; Koetje, D S; Stephenson, L C; Creelman, R A; Mullet, J E; Grimes, H D

1995-08-01

The response of individual members of the lipoxygenase multigene family in soybeans to sink deprivation was analyzed. RNase protection assays indicated that a novel vegetative lipoxygenase gene, vlxC, and three other vegetative lipoxygenase mRNAs accumulated in mature leaves in response to a variety of sink limitations. These data suggest that several members of the lipoxygenase multigene family are involved in assimilate partitioning. The possible involvement of jasmonic acid as a signaling molecule regulating assimilate partitioning into the vegetative storage proteins and lipoxygenases was directly assessed by determining the endogenous level of jasmonic acid in leaves from plants with their pods removed. There was no rise in the level of endogenous jasmonic acid coincident with the strong increase in both vlxC and vegetative storage protein VspB transcripts in response to sink limitation. Thus, expression of the vegetative lipoxygenases and vegetative storage proteins is not regulated by jasmonic acid in sink-limited leaves.

Multi-gene analysis provides a well-supported phylogeny of Rosales.

Science.gov (United States)

Zhang, Shu-dong; Soltis, Douglas E; Yang, Yang; Li, De-zhu; Yi, Ting-shuang

2011-07-01

Despite many attempts to resolve evolutionary relationships among the major clades of Rosales, some nodes have been extremely problematic and have remained unresolved. In this study, we use two nuclear and 10 plastid loci to infer phylogenetic relationships among all nine families of Rosales. Rosales were strongly supported as monophyletic; within Rosales all family relationships are well-supported with Rosaceae sister to all other members of the order. Remaining Rosales can be divided into two subclades: (1) Ulmaceae are sister to Cannabaceae plus (Urticaceae+Moraceae); (2) Rhamnaceae are sister to Elaeagnaceae plus (Barbeyaceae+Dirachmaceae). One noteworthy result is that we recover the first strong support for a sister relationship between the enigmatic Dirachmaceae and Barbeyaceae. These two small families have distinct morphologies and potential synapomorphies remain unclear. Future studies should try to identify nonDNA synapomorphies uniting Barbeyaceae with Dirachmaceae. Copyright © 2011 Elsevier Inc. All rights reserved.

The chalcone synthase multigene family of Petunia hybrida (V30): differential, light-regulated expression during flower development and UV light induction

International Nuclear Information System (INIS)

Koes, R.E.; Spelt, C.E.; Mol, J.N.M.

1989-01-01

We have analysed the expression of the 8-10 members of the gene family encoding the flavonoid biosynthetic enzyme chalcone synthase (CHS) from Petunia hybrida. During normal plant development only two members of the gene family (CHS-A and CHS-J) are expressed. Their expression is restricted to floral tissues mainly. About 90% of the total CHS mRNA pool is transcribed from CHS-A, wheares CHS-J delivers about 10% in flower corolla, tube and anthers. Expression of CHS-A and CHS-J during flower development is coordinated and (red) light-dependent. In young seedlings and cell suspension cultures expression of CHS-A and CHS-J can be induced with UV light. In addition to CHS-A and CHS-J, expression of another two CHS genes (CHS-B and CHS-G) is induced in young seedlings by UV light, albeit at a low level. In contrast to CHS genes from Leguminoseae, Petunia CHS genes are not inducible by phytopathogen-derived elicitors. Expression of CHS-A and CHS-J is reduced to a similar extent in a regulatory CHS mutant, Petunia hybrida Red Star, suggesting that both genes are regulated by the same trans-acting factors. Comparison of the promoter sequences of CHS-A and CHS-J reveals some striking homologies, which might represent cis-acting regulatory sequences. (author)

Building supertrees: an empirical assessment using the grass family (Poaceae).

Science.gov (United States)

Salamin, Nicolas; Hodkinson, Trevor R; Savolainen, Vincent

2002-02-01

Large and comprehensive phylogenetic trees are desirable for studying macroevolutionary processes and for classification purposes. Such trees can be obtained in two different ways. Either the widest possible range of taxa can be sampled and used in a phylogenetic analysis to produce a "big tree," or preexisting topologies can be used to create a supertree. Although large multigene analyses are often favored, combinable data are not always available, and supertrees offer a suitable solution. The most commonly used method of supertree reconstruction, matrix representation with parsimony (MRP), is presented here. We used a combined data set for the Poaceae to (1) assess the differences between an approach that uses combined data and one that uses different MRP modifications based on the character partitions and (2) investigate the advantages and disadvantages of these modifications. Baum and Ragan and Purvis modifications gave similar results. Incorporating bootstrap support associated with pre-existing topologies improved Baum and Ragan modification and its similarity with a combined analysis. Finally, we used the supertree reconstruction approach on 55 published phylogenies to build one of most comprehensive phylogenetic trees published for the grass family including 403 taxa and discuss its strengths and weaknesses in relation to other published hypotheses.

Gene-expression patterns in peripheral blood classify familial breast cancer susceptibility.

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Piccolo, Stephen R; Andrulis, Irene L; Cohen, Adam L; Conner, Thomas; Moos, Philip J; Spira, Avrum E; Buys, Saundra S; Johnson, W Evan; Bild, Andrea H

2015-11-04

Women with a family history of breast cancer face considerable uncertainty about whether to pursue standard screening, intensive screening, or prophylactic surgery. Accurate and individualized risk-estimation approaches may help these women make more informed decisions. Although highly penetrant genetic variants have been associated with familial breast cancer (FBC) risk, many individuals do not carry these variants, and many carriers never develop breast cancer. Common risk variants have a relatively modest effect on risk and show limited potential for predicting FBC development. As an alternative, we hypothesized that additional genomic data types, such as gene-expression levels, which can reflect genetic and epigenetic variation, could contribute to classifying a person's risk status. Specifically, we aimed to identify common patterns in gene-expression levels across individuals who develop FBC. We profiled peripheral blood mononuclear cells from women with a family history of breast cancer (with or without a germline BRCA1/2 variant) and from controls. We used the support vector machines algorithm to differentiate between patients who developed FBC and those who did not. Our study used two independent datasets, a training set of 124 women from Utah (USA) and an external validation (test) set from Ontario (Canada) of 73 women (197 total). We controlled for expression variation associated with clinical, demographic, and treatment variables as well as lymphocyte markers. Our multigene biomarker provided accurate, individual-level estimates of FBC occurrence for the Utah cohort (AUC = 0.76 [0.67-84]) . Even at their lower confidence bounds, these accuracy estimates meet or exceed estimates from alternative approaches. Our Ontario cohort resulted in similarly high levels of accuracy (AUC = 0.73 [0.59-0.86]), thus providing external validation of our findings. Individuals deemed to have "high" risk by our model would have an estimated 2.4 times greater odds of

Durable protection of rhesus macaques immunized with a replicating adenovirus-SIV multigene prime/protein boost vaccine regimen against a second SIVmac251 rectal challenge: role of SIV-specific CD8+ T cell responses.

Science.gov (United States)

Malkevitch, Nina V; Patterson, L Jean; Aldrich, M Kristine; Wu, Yichen; Venzon, David; Florese, Ruth H; Kalyanaraman, V S; Pal, Ranajit; Lee, Eun Mi; Zhao, Jun; Cristillo, Anthony; Robert-Guroff, Marjorie

2006-09-15

Previously, priming with replication-competent adenovirus-SIV multigenic vaccines and boosting with envelope subunits strongly protected 39% of rhesus macaques against rectal SIV(mac251) challenge. To evaluate protection durability, eleven of the protected and two SIV-infected unimmunized macaques that controlled viremia were re-challenged rectally with SIV(mac251). Strong protection was observed in 8/11 vaccinees, including two exhibiting protected macaques. Durable protection was associated with significantly increased SIV-specific ELISPOT responses and lymphoproliferative responses to p27 at re-challenge. After CD8 depletion, 2 of 8 re-challenged, protected vaccinees maintained protection against re-challenge.

Growth rate-regulated expression of the hexose transporter HXT5 in Saccharomyces cerevisiae

NARCIS (Netherlands)

Verwaal, René

2003-01-01

Glucose, which is the most preferred carbon source for the yeast Saccharomyces cerevisiae, is transported across the plasma membrane into cells by hexose transporter (Hxt) proteins. The Hxt proteins are encoded by a multigene family consisting of 20 members. It was shown previously that HXT1-4 and

RNAi-based silencing of genes encoding the vacuolar- ATPase ...

African Journals Online (AJOL)

2016-11-09

Nov 9, 2016 ... Spodoptera exigua larval development by silencing chitin synthase gene with RNA interference. Bull. Entomol. Res. 98:613-619. Dow JAT (1999). The Multifunctional Drosophila melanogaster V-. ATPase is encoded by a multigene family. J. Bioenerg. Biomembr. 31:75-83. Fire A, Xu SQ, Montgomery MK, ...

Evolutionary mechanisms driving the evolution of a large polydnavirus gene family coding for protein tyrosine phosphatases

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Serbielle Céline

2012-12-01

Full Text Available Abstract Background Gene duplications have been proposed to be the main mechanism involved in genome evolution and in acquisition of new functions. Polydnaviruses (PDVs, symbiotic viruses associated with parasitoid wasps, are ideal model systems to study mechanisms of gene duplications given that PDV genomes consist of virulence genes organized into multigene families. In these systems the viral genome is integrated in a wasp chromosome as a provirus and virus particles containing circular double-stranded DNA are injected into the parasitoids’ hosts and are essential for parasitism success. The viral virulence factors, organized in gene families, are required collectively to induce host immune suppression and developmental arrest. The gene family which encodes protein tyrosine phosphatases (PTPs has undergone spectacular expansion in several PDV genomes with up to 42 genes. Results Here, we present strong indications that PTP gene family expansion occurred via classical mechanisms: by duplication of large segments of the chromosomally integrated form of the virus sequences (segmental duplication, by tandem duplications within this form and by dispersed duplications. We also propose a novel duplication mechanism specific to PDVs that involves viral circle reintegration into the wasp genome. The PTP copies produced were shown to undergo conservative evolution along with episodes of adaptive evolution. In particular recently produced copies have undergone positive selection in sites most likely involved in defining substrate selectivity. Conclusion The results provide evidence about the dynamic nature of polydnavirus proviral genomes. Classical and PDV-specific duplication mechanisms have been involved in the production of new gene copies. Selection pressures associated with antagonistic interactions with parasitized hosts have shaped these genes used to manipulate lepidopteran physiology with evidence for positive selection involved in

Development of haplotype-specific molecular markers for the low-molecular-weight glutenin subunits

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Low-molecular-weight glutenin subunits (LMW-GSs) are one of the major components of gluten and their allelic variation has been widely associated with numerous wheat end-use quality parameters. These proteins are encoded by multigene families located at the orthologous Glu-3 loci (Glu-A3, Glu-B3 and...

Origin, distribution and 3D-modeling of Gr-EXPB1, an expansin from the potato cyst nematode Globodera rostochiensis

NARCIS (Netherlands)

Kudla, U.; Qin Ling,; Milac, A.; Kielak, A.; Maissen, C.; Overmars, H.A.; Popeijus, H.E.; Roze, E.H.A.; Petrescu, A.J.; Smant, G.; Bakker, J.; Helder, J.

2005-01-01

Southern analysis showed that Gr-EXPB1, a functional expansin from the potato cyst nematode Globodera rostochiensis, is member of a multigene family, and EST data suggest expansins to be present in other plant parasitic nematodes as well. Homology modeling predicted that Gr-EXPB1 domain 1 (D1) has a

All For One and One For All on the Tick-Host Battlefield

Czech Academy of Sciences Publication Activity Database

Chmelař, J.; Kotál, Jan; Pedra, J. H. F.; Kotsyfakis, Michalis

2016-01-01

Roč. 32, č. 5 (2016), s. 368-377 ISSN 1471-4922 R&D Projects: GA ČR GAP502/12/2409 Institutional support: RVO:60077344 Keywords : immunomodulation * multigenic protein families * pluripotency * redundancy * silent antigens * tick salivary proteins Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 6.333, year: 2016

The UDP-glucuronate decarboxylase gene family in Populus: structure, expression, and association genetics.

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Qingzhang Du

Full Text Available In woody crop plants, the oligosaccharide components of the cell wall are essential for important traits such as bioenergy content, growth, and structural wood properties. UDP-glucuronate decarboxylase (UXS is a key enzyme in the synthesis of UDP-xylose for the formation of xylans during cell wall biosynthesis. Here, we isolated a multigene family of seven members (PtUXS1-7 encoding UXS from Populus tomentosa, the first investigation of UXSs in a tree species. Analysis of gene structure and phylogeny showed that the PtUXS family could be divided into three groups (PtUXS1/4, PtUXS2/5, and PtUXS3/6/7, consistent with the tissue-specific expression patterns of each PtUXS. We further evaluated the functional consequences of nucleotide polymorphisms in PtUXS1. In total, 243 single-nucleotide polymorphisms (SNPs were identified, with a high frequency of SNPs (1/18 bp and nucleotide diversity (πT = 0.01033, θw = 0.01280. Linkage disequilibrium (LD analysis showed that LD did not extend over the entire gene (r (2<0.1, P<0.001, within 700 bp. SNP- and haplotype-based association analysis showed that nine SNPs (Q <0.10 and 12 haplotypes (P<0.05 were significantly associated with growth and wood property traits in the association population (426 individuals, with 2.70% to 12.37% of the phenotypic variation explained. Four significant single-marker associations (Q <0.10 were validated in a linkage mapping population of 1200 individuals. Also, RNA transcript accumulation varies among genotypic classes of SNP10 was further confirmed in the association population. This is the first comprehensive study of the UXS gene family in woody plants, and lays the foundation for genetic improvements of wood properties and growth in trees using genetic engineering or marker-assisted breeding.

Genome-wide analysis of the Hsp70 family genes in pepper (Capsicum annuum L.) and functional identification of CaHsp70-2 involvement in heat stress.

Science.gov (United States)

Guo, Meng; Liu, Jin-Hong; Ma, Xiao; Zhai, Yu-Fei; Gong, Zhen-Hui; Lu, Ming-Hui

2016-11-01

Hsp70s function as molecular chaperones and are encoded by a multi-gene family whose members play a crucial role in plant response to stress conditions, and in plant growth and development. Pepper (Capsicum annuum L.) is an important vegetable crop whose genome has been sequenced. Nonetheless, no overall analysis of the Hsp70 gene family is reported in this crop plant to date. To assess the functionality of Capsicum annuum Hsp70 (CaHsp70) genes, pepper genome database was analyzed in this research. A total of 21 CaHsp70 genes were identified and their characteristics were also described. The promoter and transcript expression analysis revealed that CaHsp70s were involved in pepper growth and development, and heat stress response. Ectopic expression of a cytosolic gene, CaHsp70-2, regulated expression of stress-related genes and conferred increased thermotolerance in transgenic Arabidopsis. Taken together, our results provide the basis for further studied to dissect CaHsp70s' function in response to heat stress as well as other environmental stresses. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

PCR-mediated recombination in amplification products derived from polyploid cotton.

Science.gov (United States)

Richard C. Cronn; M. Cedroni; T. Haselkorn; C. Grover; Jonathan F. Wendel

2002-01-01

PCR recombination describes a process of in vitro chimera formation from non-identical templates. The key requirements of this process is the inclusion of two partially homologous templates in one reaction, a condition met when amplifying any locus from polyploid organisms and members of multigene families from diploid organisms. Because polyploids possess two or more...

Genetic investigation of 93 families with microphthalmia or posterior microphthalmos.

Science.gov (United States)

Patel, N; Khan, A O; Alsahli, S; Abdel-Salam, G; Nowilaty, S R; Mansour, A M; Nabil, A; Al-Owain, M; Sogati, S; Salih, M A; Kamal, A M; Alsharif, H; Alsaif, H S; Alzahrani, S S; Abdulwahab, F; Ibrahim, N; Hashem, M; Faquih, T; Shah, Z A; Abouelhoda, M; Monies, D; Dasouki, M; Shaheen, R; Wakil, S M; Aldahmesh, M A; Alkuraya, F S

2018-06-01

Microphthalmia is a developmental eye defect that is highly variable in severity and in its potential for systemic association. Despite the discovery of many disease genes in microphthalmia, at least 50% of patients remain undiagnosed genetically. Here, we describe a cohort of 147 patients (93 families) from our highly consanguineous population with various forms of microphthalmia (including the distinct entity of posterior microphthalmos) that were investigated using a next-generation sequencing multi-gene panel (i-panel) as well as whole exome sequencing and molecular karyotyping. A potentially causal mutation was identified in the majority of the cohort with microphthalmia (61%) and posterior microphthalmos (82%). The identified mutations (55 point mutations, 15 of which are novel) spanned 24 known disease genes, some of which have not or only very rarely been linked to microphthalmia (PAX6, SLC18A2, DSC3 and CNKSR1). Our study has also identified interesting candidate variants in 2 genes that have not been linked to human diseases (MYO10 and ZNF219), which we present here as novel candidates for microphthalmia. In addition to revealing novel phenotypic aspects of microphthalmia, this study expands its allelic and locus heterogeneity and highlights the need for expanded testing of patients with this condition. © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Next-generation sequencing for genetic testing of familial colorectal cancer syndromes.

Science.gov (United States)

Simbolo, Michele; Mafficini, Andrea; Agostini, Marco; Pedrazzani, Corrado; Bedin, Chiara; Urso, Emanuele D; Nitti, Donato; Turri, Giona; Scardoni, Maria; Fassan, Matteo; Scarpa, Aldo

2015-01-01

Genetic screening in families with high risk to develop colorectal cancer (CRC) prevents incurable disease and permits personalized therapeutic and follow-up strategies. The advancement of next-generation sequencing (NGS) technologies has revolutionized the throughput of DNA sequencing. A series of 16 probands for either familial adenomatous polyposis (FAP; 8 cases) or hereditary nonpolyposis colorectal cancer (HNPCC; 8 cases) were investigated for intragenic mutations in five CRC familial syndromes-associated genes (APC, MUTYH, MLH1, MSH2, MSH6) applying both a custom multigene Ion AmpliSeq NGS panel and conventional Sanger sequencing. Fourteen pathogenic variants were detected in 13/16 FAP/HNPCC probands (81.3 %); one FAP proband presented two co-existing pathogenic variants, one in APC and one in MUTYH. Thirteen of these 14 pathogenic variants were detected by both NGS and Sanger, while one MSH2 mutation (L280FfsX3) was identified only by Sanger sequencing. This is due to a limitation of the NGS approach in resolving sequences close or within homopolymeric stretches of DNA. To evaluate the performance of our NGS custom panel we assessed its capability to resolve the DNA sequences corresponding to 2225 pathogenic variants reported in the COSMIC database for APC, MUTYH, MLH1, MSH2, MSH6. Our NGS custom panel resolves the sequences where 2108 (94.7 %) of these variants occur. The remaining 117 mutations reside inside or in close proximity to homopolymer stretches; of these 27 (1.2 %) are imprecisely identified by the software but can be resolved by visual inspection of the region, while the remaining 90 variants (4.0 %) are blind spots. In summary, our custom panel would miss 4 % (90/2225) of pathogenic variants that would need a small set of Sanger sequencing reactions to be solved. The multiplex NGS approach has the advantage of analyzing multiple genes in multiple samples simultaneously, requiring only a reduced number of Sanger sequences to resolve

Direct Detection and Differentiation of Pathogenic Leptospira Species Using a Multi-Gene Targeted Real Time PCR Approach

Science.gov (United States)

Ferreira, Ana Sofia; Costa, Pedro; Rocha, Teresa; Amaro, Ana; Vieira, Maria Luísa; Ahmed, Ahmed; Thompson, Gertrude; Hartskeerl, Rudy A.; Inácio, João

2014-01-01

Leptospirosis is a growing public and veterinary health concern caused by pathogenic species of Leptospira. Rapid and reliable laboratory tests for the direct detection of leptospiral infections in animals are in high demand not only to improve diagnosis but also for understanding the epidemiology of the disease. In this work we describe a novel and simple TaqMan-based multi-gene targeted real-time PCR approach able to detect and differentiate Leptospira interrogans, L. kirschneri, L. borgpeteresenii and L. noguchii, which constitute the veterinary most relevant pathogenic species of Leptospira. The method uses sets of species-specific probes, and respective flanking primers, designed from ompL1 and secY gene sequences. To monitor the presence of inhibitors, a duplex amplification assay targeting both the mammal β-actin and the leptospiral lipL32 genes was implemented. The analytical sensitivity of all primer and probe sets was estimated to be <10 genome equivalents (GE) in the reaction mixture. Application of the amplification reactions on genomic DNA from a variety of pathogenic and non-pathogenic Leptospira strains and other non-related bacteria revealed a 100% analytical specificity. Additionally, pathogenic leptospires were successfully detected in five out of 29 tissue samples from animals (Mus spp., Rattus spp., Dolichotis patagonum and Sus domesticus). Two samples were infected with L. borgpetersenii, two with L. interrogans and one with L. kirschneri. The possibility to detect and identify these pathogenic agents to the species level in domestic and wildlife animals reinforces the diagnostic information and will enhance our understanding of the epidemiology of leptopirosis. PMID:25398140

Characterization of an ethylene-related small multigene family from Lycopersicon esculentum

Energy Technology Data Exchange (ETDEWEB)

Holdsworth, M

1987-01-01

cDNA clones derived from a tomato ripening-related cDNA library were used in RNA dot-blot experiments to investigate changes in the abundance of ripening related mRNAs during both natural and ethylene-induced ripening. Accumulation of the ripening-related mRNAs during natural ripening began at the time of autocatalytic ethylene production by the fruit, reached a maximum in orange fruit and declined as they became red. Analysis of the induction kinetics of these mRNAs revealed several patterns of expression as tomatoes ripened. The pTOM 13 cDNA insert was sequenced and used to identify related sequences in a tomato genomic library. 21 hybridizing genomic clones were isolated and divided into three groups of similar sequences based on their restriction maps. The DNA sequences of two of these groups of genomic clones that hybridized to pTOM 13 were determined. This allowed the identification of an incomplete pTOM 13-homologous gene, and a closely related complete gene. Nuclei were isolated from unwounded and wounded leaves and were used in run-off transcription experiments in the presence of (..cap alpha../sup 32/P)UTP. (/sup 32/P)-labelled RNA obtained from transcription experiments was used in dot-blot experiments against pTOM 13 and related genomic subclones. The results of these experiments demonstrated that the accumulation of pTOM 13-related genes in leaves may be controlled at transcriptional and post-transcriptional levels.

Evidence of intralocus recombination at the Glu-3 loci in bread wheat (Triticum aestivum L.)

Science.gov (United States)

The low-molecular weight glutenin subunits (LMW-GSs) are a class of wheat seed storage proteins that play a critical role in the determination of wheat flour bread-making quality. These proteins are encoded by multigene families located at the orthologous Glu-3 loci (Glu-A3, Glu-B3 and Glu-D3), on t...

Convergent evolution, habitat shifts and variable diversification rates in the ovenbird-woodcreeper family (Furnariidae).

Science.gov (United States)

Irestedt, Martin; Fjeldså, Jon; Dalén, Love; Ericson, Per G P

2009-11-21

The Neotropical ovenbird-woodcreeper family (Furnariidae) is an avian group characterized by exceptionally diverse ecomorphological adaptations. For instance, members of the family are known to construct nests of a remarkable variety. This offers a unique opportunity to examine whether changes in nest design, accompanied by expansions into new habitats, facilitates diversification. We present a multi-gene phylogeny and age estimates for the ovenbird-woodcreeper family and use these results to estimate the degree of convergent evolution in both phenotype and habitat utilisation. Furthermore, we discuss whether variation in species richness among ovenbird clades could be explained by differences in clade-specific diversification rates, and whether these rates differ among lineages with different nesting habits. In addition, the systematic positions of some enigmatic ovenbird taxa and the postulated monophyly of some species-rich genera are evaluated. The phylogenetic results reveal new examples of convergent evolution and show that ovenbirds have independently colonized open habitats at least six times. The calculated age estimates suggest that the ovenbird-woodcreeper family started to diverge at ca 33 Mya, and that the timing of habitat shifts into open environments may be correlated with the aridification of South America during the last 15 My. The results also show that observed large differences in species richness among clades can be explained by a substantial variation in net diversification rates. The synallaxines, which generally are adapted to dry habitats and build exposed vegetative nests, had the highest diversification rate of all major furnariid clades. Several key features may have played an important role for the radiation and evolution of convergent phenotypes in the ovenbird-woodcreeper family. Our results suggest that changes in nest building strategy and adaptation to novel habitats may have played an important role in a diversification that

Multi-gene analysis reveals a lack of genetic divergence between Calanus agulhensis and C. sinicus (Copepoda; Calanoida.

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Robert Kozol

Full Text Available The discrimination and taxonomic identification of marine species continues to pose a challenge despite the growing number of diagnostic metrics and approaches. This study examined the genetic relationship between two sibling species of the genus Calanus (Crustacea; Copepoda; Calanidae, C. agulhensis and C. sinicus, using a multi-gene analysis. DNA sequences were determined for portions of the mitochondrial cytochrome c oxidase I (mtCOI; nuclear citrate synthase (CS, and large subunit (28S rRNA genes for specimens collected from the Sea of Japan and North East (NE Pacific Ocean for C. sinicus and from the Benguela Current and Agulhas Bank, off South Africa, for C. agulhensis. For mtCOI, C. sinicus and C. agulhensis showed similar levels of haplotype diversity (H(d = 0.695 and 0.660, respectively and nucleotide diversity (π = 0.003 and 0.002, respectively. Pairwise F(ST distances for mtCOI were significant only between C. agulhensis collected from the Agulhas and two C. sinicus populations: the Sea of Japan (F(ST = 0.152, p<0.01 and NE Pacific (F(ST = 0.228, p<0.005. Between the species, F(ST distances were low for both mtCOI (F(ST = 0.083, p = 0.003 and CS (F(ST = 0.050, p = 0.021. Large subunit (28S rRNA showed no variation between the species. Our results provide evidence of the lack of genetic distinction of C. sinicus and C. agulhensis, raise questions of whether C. agulhensis warrants status as a distinct species, and indicate the clear need for more intensive and extensive ecological and genetic analysis.

A member of the Tlr family is involved in dsRNA innate immune response in Paracentrotus lividus sea urchin.

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Russo, Roberta; Chiaramonte, Marco; Matranga, Valeria; Arizza, Vincenzo

2015-08-01

The innate immune response involves proteins such as the membrane receptors of the Toll-like family (TLRs), which trigger different intracellular signalling pathways that are dependent on specific stimulating molecules. In sea urchins, TLR proteins are encoded by members of a large multigenic family composed of 60-250 genes in different species. Here, we report a newly identified mRNA sequence encoding a TLR protein (referred to as Pl-Tlr) isolated from Paracentrotus lividus immune cells. The partial protein sequence contained the conserved Toll/IL-1 receptor (TIR) domain, the transmembrane domain and part of the leucine repeats. Phylogenetic analysis of the Pl-Tlr protein was accomplished by comparing its sequence with those of TLRs from different classes of vertebrates and invertebrates. This analysis was suggestive of an evolutionary path that most likely represented the course of millions of years, starting from simple organisms and extending to humans. Challenge of the sea urchin immune system with poly-I:C, a chemical compound that mimics dsRNA, caused time-dependent Pl-Tlr mRNA up-regulation that was detected by QPCR. In contrast, bacterial LPS injury did not affect Pl-Tlr transcription. The study of the Tlr genes in the sea urchin model system may provide new perspectives on the role of Tlrs in the invertebrate immune response and clues concerning their evolution in a changing world. Copyright © 2015 Elsevier Ltd. All rights reserved.

Sequence comparisons of odorant receptors among tortricid moths reveal different rates of molecular evolution among family members.

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Colm Carraher

Full Text Available In insects, odorant receptors detect volatile cues involved in behaviours such as mate recognition, food location and oviposition. We have investigated the evolution of three odorant receptors from five species within the moth genera Ctenopseustis and Planotrotrix, family Tortricidae, which fall into distinct clades within the odorant receptor multigene family. One receptor is the orthologue of the co-receptor Or83b, now known as Orco (OR2, and encodes the obligate ion channel subunit of the receptor complex. In comparison, the other two receptors, OR1 and OR3, are ligand-binding receptor subunits, activated by volatile compounds produced by plants--methyl salicylate and citral, respectively. Rates of sequence evolution at non-synonymous sites were significantly higher in OR1 compared with OR2 and OR3. Within the dataset OR1 contains 109 variable amino acid positions that are distributed evenly across the entire protein including transmembrane helices, loop regions and termini, while OR2 and OR3 contain 18 and 16 variable sites, respectively. OR2 shows a high level of amino acid conservation as expected due to its essential role in odour detection; however we found unexpected differences in the rate of evolution between two ligand-binding odorant receptors, OR1 and OR3. OR3 shows high sequence conservation suggestive of a conserved role in odour reception, whereas the higher rate of evolution observed in OR1, particularly at non-synonymous sites, may be suggestive of relaxed constraint, perhaps associated with the loss of an ancestral role in sex pheromone reception.

Functional evolution of a multigene family: orthologous and paralogous pheromone receptor genes in the turnip moth, Agrotis segetum.

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Dan-Dan Zhang

Full Text Available Lepidopteran pheromone receptors (PRs, for which orthologies are evident among closely related species, provide an intriguing example of gene family evolution in terms of how new functions may arise. However, only a limited number of PRs have been functionally characterized so far and thus evolutionary scenarios suffer from elements of speculation. In this study we investigated the turnip moth Agrotis segetum, in which female moths produce a mixture of chemically related pheromone components that elicit specific responses from receptor cells on male antennae. We cloned nine A. segetum PR genes and the Orco gene by degenerate primer based RT-PCR. The nine PR genes, named as AsegOR1 and AsegOR3-10, fall into four distinct orthologous clusters of known lepidopteran PRs, of which one contains six paralogues. The paralogues are under relaxed selective pressure, contrasting with the purifying selection on other clusters. We identified the receptors AsegOR9, AsegOR4 and AsegOR5, specific for the respective homologous pheromone components (Z-5-decenyl, (Z-7-dodecenyl and (Z-9-tetradecenyl acetates, by two-electrode voltage clamp recording from Xenopus laevis oocytes co-expressing Orco and each PR candidate. These receptors occur in three different orthologous clusters. We also found that the six paralogues with high sequence similarity vary dramatically in ligand selectivity and sensitivity. Different from AsegOR9, AsegOR6 showed a relatively large response to the behavioural antagonist (Z-5-decenol, and a small response to (Z-5-decenyl acetate. AsegOR1 was broadly tuned, but most responsive to (Z-5-decenyl acetate, (Z-7-dodecenyl acetate and the behavioural antagonist (Z-8-dodecenyl acetate. AsegOR8 and AsegOR7, which differ from AsegOR6 and AsegOR1 by 7 and 10 aa respectively, showed much lower sensitivities. AsegOR10 showed only small responses to all the tested compounds. These results suggest that new receptors arise through gene duplication, and

Large-scale chromatin remodeling at the immunoglobulin heavy chain locus: a paradigm for multigene regulation.

Science.gov (United States)

Bolland, Daniel J; Wood, Andrew L; Corcoran, Anne E

2009-01-01

V(D)J recombination in lymphocytes is the cutting and pasting together of antigen receptor genes in cis to generate the enormous variety of coding sequences required to produce diverse antigen receptor proteins. It is the key role of the adaptive immune response, which must potentially combat millions of different foreign antigens. Most antigen receptor loci have evolved to be extremely large and contain multiple individual V, D and J genes. The immunoglobulin heavy chain (Igh) and immunoglobulin kappa light chain (Igk) loci are the largest multigene loci in the mammalian genome and V(D)J recombination is one of the most complicated genetic processes in the nucleus. The challenge for the appropriate lymphocyte is one of macro-management-to make all of the antigen receptor genes in a particular locus available for recombination at the appropriate developmental time-point. Conversely, these large loci must be kept closed in lymphocytes in which they do not normally recombine, to guard against genomic instability generated by the DNA double strand breaks inherent to the V(D)J recombination process. To manage all of these demanding criteria, V(D)J recombination is regulated at numerous levels. It is restricted to lymphocytes since the Rag genes which control the DNA double-strand break step of recombination are only expressed in these cells. Within the lymphocyte lineage, immunoglobulin recombination is restricted to B-lymphocytes and TCR recombination to T-lymphocytes by regulation of locus accessibility, which occurs at multiple levels. Accessibility of recombination signal sequences (RSSs) flanking individual V, D and J genes at the nucleosomal level is the key micro-management mechanism, which is discussed in greater detail in other chapters. This chapter will explore how the antigen receptor loci are regulated as a whole, focussing on the Igh locus as a paradigm for the mechanisms involved. Numerous recent studies have begun to unravel the complex and

Investigating a multigene prognostic assay based on significant pathways for Luminal A breast cancer through gene expression profile analysis.

Science.gov (United States)

Gao, Haiyan; Yang, Mei; Zhang, Xiaolan

2018-04-01

The present study aimed to investigate potential recurrence-risk biomarkers based on significant pathways for Luminal A breast cancer through gene expression profile analysis. Initially, the gene expression profiles of Luminal A breast cancer patients were downloaded from The Cancer Genome Atlas database. The differentially expressed genes (DEGs) were identified using a Limma package and the hierarchical clustering analysis was conducted for the DEGs. In addition, the functional pathways were screened using Kyoto Encyclopedia of Genes and Genomes pathway enrichment analyses and rank ratio calculation. The multigene prognostic assay was exploited based on the statistically significant pathways and its prognostic function was tested using train set and verified using the gene expression data and survival data of Luminal A breast cancer patients downloaded from the Gene Expression Omnibus. A total of 300 DEGs were identified between good and poor outcome groups, including 176 upregulated genes and 124 downregulated genes. The DEGs may be used to effectively distinguish Luminal A samples with different prognoses verified by hierarchical clustering analysis. There were 9 pathways screened as significant pathways and a total of 18 DEGs involved in these 9 pathways were identified as prognostic biomarkers. According to the survival analysis and receiver operating characteristic curve, the obtained 18-gene prognostic assay exhibited good prognostic function with high sensitivity and specificity to both the train and test samples. In conclusion the 18-gene prognostic assay including the key genes, transcription factor 7-like 2, anterior parietal cortex and lymphocyte enhancer factor-1 may provide a new method for predicting outcomes and may be conducive to the promotion of precision medicine for Luminal A breast cancer.

The olfactory receptor gene repertoires in secondary-adapted marine vertebrates: evidence for reduction of the functional proportions in cetaceans

OpenAIRE

Kishida, Takushi; Kubota, Shin; Shirayama, Yoshihisa; Fukami, Hironobu

2007-01-01

An olfactory receptor (OR) multigene family is responsible for the well-developed sense of smell possessed by terrestrial tetrapods. Mammalian OR genes had diverged greatly in the terrestrial environment after the fish–tetrapod split, indicating their importance to land habitation. In this study, we analysed OR genes of marine tetrapods (minke whale Balaenoptera acutorostrata, dwarf sperm whale Kogia sima, Dall's porpoise Phocoenoides dalli, Steller's sea lion Eumetopias jubatus and loggerhea...

Non-host Plant Resistance against Phytophthora capsici Is Mediated in Part by Members of the I2 R Gene Family in Nicotiana spp.

Science.gov (United States)

Vega-Arreguín, Julio C; Shimada-Beltrán, Harumi; Sevillano-Serrano, Jacobo; Moffett, Peter

2017-01-01

The identification of host genes associated with resistance to Phytophthora capsici is crucial to developing strategies of control against this oomycete pathogen. Since there are few sources of resistance to P. capsici in crop plants, non-host plants represent a promising source of resistance genes as well as excellent models to study P. capsici - plant interactions. We have previously shown that non-host resistance to P. capsici in Nicotiana spp. is mediated by the recognition of a specific P. capsici effector protein, PcAvr3a1 in a manner that suggests the involvement of a cognate disease resistance (R) genes. Here, we have used virus-induced gene silencing (VIGS) and transgenic tobacco plants expressing dsRNA in Nicotiana spp. to identify candidate R genes that mediate non-host resistance to P. capsici . Silencing of members of the I2 multigene family in the partially resistant plant N. edwardsonii and in the resistant N. tabacum resulted in compromised resistance to P. capsici . VIGS of two other components required for R gene-mediated resistance, EDS1 and SGT1 , also enhanced susceptibility to P. capsici in N. edwardsonii , as well as in the susceptible plants N. benthamiana and N. clevelandii . The silencing of I2 family members in N. tabacum also compromised the recognition of PcAvr3a1. These results indicate that in this case, non-host resistance is mediated by the same components normally associated with race-specific resistance.

Dynamic evolution of the alpha (α) and beta (β) keratins has accompanied integument diversification and the adaptation of birds into novel lifestyles

DEFF Research Database (Denmark)

Greenwold, Matthew J.; Bao, Weier; Jarvis, Erich D.

2014-01-01

BACKGROUND: Vertebrate skin appendages are constructed of keratins produced by multigene families. Alpha (α) keratins are found in all vertebrates, while beta (β) keratins are found exclusively in reptiles and birds. We have studied the molecular evolution of these gene families in the genomes...... of 48 phylogenetically diverse birds and their expression in the scales and feathers of the chicken. RESULTS: We found that the total number of α-keratins is lower in birds than mammals and non-avian reptiles, yet two α-keratin genes (KRT42 and KRT75) have expanded in birds. The β-keratins, however...

New genes and new biological roles for expansins

Science.gov (United States)

Cosgrove, D. J.

2000-01-01

Expansins are extracellular proteins that loosen plant cell walls in novel ways. They are thought to function in cell enlargement, pollen tube invasion of the stigma (in grasses), wall disassembly during fruit ripening, abscission and other cell separation events. Expansins are encoded by two multigene families and each gene is often expressed in highly specific locations and cell types. Structural analysis indicates that one expansin region resembles the catalytic domain of family-45 endoglucanases but glucanase activity has not been detected. The genome projects have revealed numerous expansin-related sequences but their putative wall-loosening functions remain to be assessed.

Molecular cloning of the human eosinophil-derived neurotoxin: A member of the ribonuclease gene family

International Nuclear Information System (INIS)

Rosenberg, H.F.; Tenen, D.G.; Ackerman, S.J.

1989-01-01

The authors have isolated a 725-base-pair cDNA clone for human eosinophil-derived neurotoxin (EDN). EDN is a distinct cationic protein of the eosinophil's large specific granule known primarily for its ability to induce ataxia, paralysis, and central nervous system cellular degeneration in experimental animals (Gordon phenomenon). The open reading frame encodes a 134-amino acid mature polypeptide with a molecular mass of 15.5 kDa and a 27-residue amino-terminal hydrophobic leader sequence. The sequence of the mature polypeptide is identical to that reported for human urinary ribonuclease, and to the amino-terminal sequence of human liver ribonuclease; the cDNA encodes a tryptophan in position 7. Both EDN and the related granule protein, eosinophil cationic protein, have ribonucleolytic activity; sequence similarities among EDN, eosinophil cationic protein, ribonucleases from liver, urine, and pancreas, and angiogenin define a ribonuclease multigene family. mRNA encoding EDN was detected in uninduced HL-60 cells and was up-regulated in cells induced toward eosinophilic differentiation with B-cell growth factor 2/interleukin 5 and toward neutrophilic differentiation with dimethyl sulfoxide. EDN mRNA was detected in mature neutrophils even though EDN-like neurotoxic activity is not found neutrophil extracts. These results suggest that neutrophils contain a protein that is closely related or identical to EDN

Immunogenic Eimeria tenella glycosylphosphatidylinositol-anchored surface antigens (SAGs induce inflammatory responses in avian macrophages.

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Yock-Ping Chow

Full Text Available At least 19 glycosylphosphatidylinositol (GPI-anchored surface antigens (SAGs are expressed specifically by second-generation merozoites of Eimeria tenella, but the ability of these proteins to stimulate immune responses in the chicken is unknown.Ten SAGs, belonging to two previously defined multigene families (A and B, were expressed as soluble recombinant (r fusion proteins in E. coli. Chicken macrophages were treated with purified rSAGs and changes in macrophage nitrite production, and in mRNA expression profiles of inducible nitric oxide synthase (iNOS and of a panel of cytokines were measured. Treatment with rSAGs 4, 5, and 12 induced high levels of macrophage nitric oxide production and IL-1β mRNA transcription that may contribute to the inflammatory response observed during E. tenella infection. Concomitantly, treatment with rSAGs 4, 5 and 12 suppressed the expression of IL-12 and IFN-γ and elevated that of IL-10, suggesting that during infection these molecules may specifically impair the development of cellular mediated immunity.In summary, some E. tenella SAGs appear to differentially modulate chicken innate and humoral immune responses and those derived from multigene family A (especially rSAG 12 may be more strongly linked with E. tenella pathogenicity associated with the endogenous second generation stages.

The cellular transcription factor CREB corresponds to activating transcription factor 47 (ATF-47) and forms complexes with a group of polypeptides related to ATF-43.

Science.gov (United States)

Hurst, H C; Masson, N; Jones, N C; Lee, K A

1990-12-01

Promoter elements containing the sequence motif CGTCA are important for a variety of inducible responses at the transcriptional level. Multiple cellular factors specifically bind to these elements and are encoded by a multigene family. Among these factors, polypeptides termed activating transcription factor 43 (ATF-43) and ATF-47 have been purified from HeLa cells and a factor referred to as cyclic AMP response element-binding protein (CREB) has been isolated from PC12 cells and rat brain. We demonstrated that CREB and ATF-47 are identical and that CREB and ATF-43 form protein-protein complexes. We also found that the cis requirements for stable DNA binding by ATF-43 and CREB are different. Using antibodies to ATF-43 we have identified a group of polypeptides (ATF-43) in the size range from 40 to 43 kDa. ATF-43 polypeptides are related by their reactivity with anti-ATF-43, DNA-binding specificity, complex formation with CREB, heat stability, and phosphorylation by protein kinase A. Certain cell types vary in their ATF-43 complement, suggesting that CREB activity is modulated in a cell-type-specific manner through interaction with ATF-43. ATF-43 polypeptides do not appear simply to correspond to the gene products of the ATF multigene family, suggesting that the size of the ATF family at the protein level is even larger than predicted from cDNA-cloning studies.

Early evolutionary colocalization of the nuclear ribosomal 5S and 45S gene families in seed plants: evidence from the living fossil gymnosperm Ginkgo biloba.

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Galián, J A; Rosato, M; Rosselló, J A

2012-06-01

In seed plants, the colocalization of the 5S loci within the intergenic spacer (IGS) of the nuclear 45S tandem units is restricted to the phylogenetically derived Asteraceae family. However, fluorescent in situ hybridization (FISH) colocalization of both multigene families has also been observed in other unrelated seed plant lineages. Previous work has identified colocalization of 45S and 5S loci in Ginkgo biloba using FISH, but these observations have not been confirmed recently by sequencing a 1.8 kb IGS. In this work, we report the presence of the 45S-5S linkage in G. biloba, suggesting that in seed plants the molecular events leading to the restructuring of the ribosomal loci are much older than estimated previously. We obtained a 6.0 kb IGS fragment showing structural features of functional sequences, and a single copy of the 5S gene was inserted in the same direction of transcription as the ribosomal RNA genes. We also obtained a 1.8 kb IGS that was a truncate variant of the 6.0 kb IGS lacking the 5S gene. Several lines of evidence strongly suggest that the 1.8 kb variants are pseudogenes that are present exclusively on the satellite chromosomes bearing the 45S-5S genes. The presence of ribosomal IGS pseudogenes best reconciles contradictory results concerning the presence or absence of the 45S-5S linkage in Ginkgo. Our finding that both ribosomal gene families have been unified to a single 45S-5S unit in Ginkgo indicates that an accurate reassessment of the organization of rDNA genes in basal seed plants is necessary.

Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death.

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Michael V Zaragoza

Full Text Available The goals are to understand the primary genetic mechanisms that cause Sick Sinus Syndrome and to identify potential modifiers that may result in intrafamilial variability within a multigenerational family. The proband is a 63-year-old male with a family history of individuals (>10 with sinus node dysfunction, ventricular arrhythmia, cardiomyopathy, heart failure, and sudden death. We used exome sequencing of a single individual to identify a novel LMNA mutation and demonstrated the importance of Sanger validation and family studies when evaluating candidates. After initial single-gene studies were negative, we conducted exome sequencing for the proband which produced 9 gigabases of sequencing data. Bioinformatics analysis showed 94% of the reads mapped to the reference and identified 128,563 unique variants with 108,795 (85% located in 16,319 genes of 19,056 target genes. We discovered multiple variants in known arrhythmia, cardiomyopathy, or ion channel associated genes that may serve as potential modifiers in disease expression. To identify candidate mutations, we focused on ~2,000 variants located in 237 genes of 283 known arrhythmia, cardiomyopathy, or ion channel associated genes. We filtered the candidates to 41 variants in 33 genes using zygosity, protein impact, database searches, and clinical association. Only 21 of 41 (51% variants were validated by Sanger sequencing. We selected nine confirmed variants with minor allele frequencies G, a novel heterozygous splice-site mutation as the primary mutation with rare or novel variants in HCN4, MYBPC3, PKP4, TMPO, TTN, DMPK and KCNJ10 as potential modifiers and a mechanism consistent with haploinsufficiency.

Isolation and Characterization of D-Myo-Inositol-3-Phosphate Synthase Gene Family Members in Soybean

OpenAIRE

Good, Laura Lee

2001-01-01

The objective of this research was to isolate genes encoding isoforms of the enzyme D-myo-inositol 3-phosphate synthase (MIPS, E.C. 5.5.1.4) from soybean and to characterize their expression, especially with respect to their involvement in phytic acid biosynthesis. A MIPS-homologous cDNA, designated GmMIPS1, was isolated via PCR using total RNA from developing seeds. Southern blot analysis and examination of MIPS-homologous soybean EST sequences suggested that GmMIPS1 is part of a multigene...

Building a multigenic model of breast cancer susceptibility: CYP17 and HSD17B1 are two important candidates.

Science.gov (United States)

Feigelson, H S; McKean-Cowdin, R; Coetzee, G A; Stram, D O; Kolonel, L N; Henderson, B E

2001-01-15

We conducted a nested case-control study to evaluate whether polymorphisms in two genes involved in estrogen metabolism, CYP17 and HSD17B1, were useful in developing a breast cancer risk model that could help discriminate women who are at higher risk of breast cancer. If polymorphisms in these genes affect the level of circulating estrogens, they may directly influence breast cancer risk. The base population for this study is a multiethnic cohort study that includes African-American, Non-Latina White, Japanese, Latina, and Native Hawaiian women. For this analysis, 1508 randomly selected controls and 850 incident breast cancer cases of the first four ethnic groups who agreed to provide a blood specimen were included (76 and 80% response rates, respectively). The CYP17 A2 allele and the HSD17B1 A allele were considered "high-risk" alleles. Subjects were then classified according to number of high-risk alleles. After adjusting for age, weight, and ethnicity, we found that carrying one or more high-risk alleles increases the risk of advanced breast cancer in a dose-response fashion. The risk among women carrying four high-risk alleles was 2.21 [95% confidence interval (CI), 0.98-5.00; P for trend = 0.03] compared with those who carried none. This risk was largely limited to women who were not taking hormone replacement therapy (relative risk, 2.60; 95% CI, 0.95-7.14) and was most pronounced among those weighing 170 pounds or less (RR, 3.05; 95% CI, 1.29-7.25). These findings suggest that breast cancer risk has a strong genetic component and supports the theory that the underlying mechanism of "complex traits" can be understood using a multigenic model of candidate genes.

Multigene families encode the major enzymes of antioxidant metabolism in Eucalyptus grandis L

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Felipe Karam Teixeira

2005-01-01

Full Text Available Antioxidant metabolism protects cells from oxidative damage caused by reactive oxygen species (ROS. In plants, several enzymes act jointly to maintain redox homeostasis. Moreover, isoform diversity contributes to the fine tuning necessary for plant responses to both exogenous and endogenous signals influencing antioxidant metabolism. This study aimed to provide a comprehensive view of the major classes of antioxidant enzymes in the woody species Eucalyptus grandis. A careful survey of the FORESTs data bank revealed 36 clusters as encoding antioxidant enzymes: six clusters encoding ascorbate peroxidase (APx isozymes, three catalase (CAT proteins, three dehydroascorbate reductase (DHAR, two glutathione reductase (GR isozymes, four monodehydroascorbate reductase (MDHAR, six phospholipid hydroperoxide glutathione peroxidases (PhGPx, and 12 encoding superoxide dismutases (SOD isozymes. Phylogenetic analysis demonstrated that all clusters (identified herein grouped with previously characterized antioxidant enzymes, corroborating the analysis performed. With respect to enzymes involved in the ascorbate-glutathione cycle, both cytosolic and chloroplastic isoforms were putatively identified. These sequences were widely distributed among the different ESTs libraries indicating a broad gene expression pattern. Overall, the data indicate the importance of antioxidant metabolism in eucalyptus.

Characterization of the acetohydroxyacid synthase multigene family in the tetraploide plant Chenopodium quinoa

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Camilo Mestanza

2015-11-01

Conclusions: The presence of multiple copies of the gene AHAS shows that gene duplication is a common feature in polyploid species during evolution. In addition, to our knowledge, this is the first report of the interaction of sub-genomes in quinoa.

A comprehensive evaluation of rodent malaria parasite genomes and gene expression

KAUST Repository

Otto, Thomas D

2014-10-30

Background: Rodent malaria parasites (RMP) are used extensively as models of human malaria. Draft RMP genomes have been published for Plasmodium yoelii, P. berghei ANKA (PbA) and P. chabaudi AS (PcAS). Although availability of these genomes made a significant impact on recent malaria research, these genomes were highly fragmented and were annotated with little manual curation. The fragmented nature of the genomes has hampered genome wide analysis of Plasmodium gene regulation and function. Results: We have greatly improved the genome assemblies of PbA and PcAS, newly sequenced the virulent parasite P. yoelii YM genome, sequenced additional RMP isolates/lines and have characterized genotypic diversity within RMP species. We have produced RNA-seq data and utilized it to improve gene-model prediction and to provide quantitative, genome-wide, data on gene expression. Comparison of the RMP genomes with the genome of the human malaria parasite P. falciparum and RNA-seq mapping permitted gene annotation at base-pair resolution. Full-length chromosomal annotation permitted a comprehensive classification of all subtelomeric multigene families including the `Plasmodium interspersed repeat genes\\' (pir). Phylogenetic classification of the pir family, combined with pir expression patterns, indicates functional diversification within this family. Conclusions: Complete RMP genomes, RNA-seq and genotypic diversity data are excellent and important resources for gene-function and post-genomic analyses and to better interrogate Plasmodium biology. Genotypic diversity between P. chabaudi isolates makes this species an excellent parasite to study genotype-phenotype relationships. The improved classification of multigene families will enhance studies on the role of (variant) exported proteins in virulence and immune evasion/modulation.

The cellular transcription factor CREB corresponds to activating transcription factor 47 (ATF-47) and forms complexes with a group of polypeptides related to ATF-43.

OpenAIRE

Hurst, H C; Masson, N; Jones, N C; Lee, K A

1990-01-01

Promoter elements containing the sequence motif CGTCA are important for a variety of inducible responses at the transcriptional level. Multiple cellular factors specifically bind to these elements and are encoded by a multigene family. Among these factors, polypeptides termed activating transcription factor 43 (ATF-43) and ATF-47 have been purified from HeLa cells and a factor referred to as cyclic AMP response element-binding protein (CREB) has been isolated from PC12 cells and rat brain. We...

Stem Cell Antigen-1 in Skeletal Muscle Function

OpenAIRE

Bernstein, Harold S.; Samad, Tahmina; Cholsiripunlert, Sompob; Khalifian, Saami; Gong, Wenhui; Ritner, Carissa; Aurigui, Julian; Ling, Vivian; Wilschut, Karlijn J.; Bennett, Stephen; Hoffman, Julien; Oishi, Peter

2013-01-01

Stem cell antigen-1 (Sca-1) is a member of the Ly-6 multigene family encoding highly homologous, glycosyl-phosphatidylinositol-anchored membrane proteins. Sca-1 is expressed on muscle-derived stem cells and myogenic precursors recruited to sites of muscle injury. We previously reported that inhibition of Sca-1 expression stimulated myoblast proliferation in vitro and regulated the tempo of muscle repair in vivo. Despite its function in myoblast expansion during muscle repair, a role for Sca-1...

Independently recruited oxidases from the glucose-methanol-choline oxidoreductase family enabled chemical defences in leaf beetle larvae (subtribe Chrysomelina) to evolve

Science.gov (United States)

Rahfeld, Peter; Kirsch, Roy; Kugel, Susann; Wielsch, Natalie; Stock, Magdalena; Groth, Marco; Boland, Wilhelm; Burse, Antje

2014-01-01

Larvae of the leaf beetle subtribe Chrysomelina sensu stricto repel their enemies by displaying glandular secretions that contain defensive compounds. These repellents can be produced either de novo (iridoids) or by using plant-derived precursors (e.g. salicylaldehyde). The autonomous production of iridoids, as in Phaedon cochleariae, is the ancestral chrysomeline chemical defence and predates the evolution of salicylaldehyde-based defence. Both biosynthesis strategies include an oxidative step of an alcohol intermediate. In salicylaldehyde-producing species, this step is catalysed by salicyl alcohol oxidases (SAOs) of the glucose-methanol-choline (GMC) oxidoreductase superfamily, but the enzyme oxidizing the iridoid precursor is unknown. Here, we show by in vitro as well as in vivo experiments that P. cochleariae also uses an oxidase from the GMC superfamily for defensive purposes. However, our phylogenetic analysis of chrysomeline GMC oxidoreductases revealed that the oxidase of the iridoid pathway originated from a GMC clade different from that of the SAOs. Thus, the evolution of a host-independent chemical defence followed by a shift to a host-dependent chemical defence in chrysomeline beetles coincided with the utilization of genes from different GMC subfamilies. These findings illustrate the importance of the GMC multi-gene family for adaptive processes in plant–insect interactions. PMID:24943369

NRT2.4 and NRT2.5 Are Two Half-Size Transporters from the Chlamydomonas NRT2 Family

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Jose Javier Higuera

2016-03-01

Full Text Available The NRT2 transporters mediate High Affinity Nitrate/NitriteTransport (HAN/NiT, which are essential for nitrogen acquisition from these inorganic forms. The NRT2 proteins are encoded by a multigene family in plants, and contain 12 transmembrane-spanning domains. Chlamydomonas reinhardtii has six NRT2, two of which (NRT2.5 and NRT2.4 are located in Chromosome III, in tandem head to tail. cDNAs for these genes were isolated and their sequence revealed that they correspond to half-size NRT2 transporters each containing six transmembrane domains. NRT2.5 has long N- and C- termini sequences without known homology. NRT2.4 also contains long termini sequences but smaller than NRT2.5. Expression of both studied genes occurred at a very low level, slightly in darkness, and was not modified by the N or C source. Silencing of NRT2.4 by specific artificial miRNA resulted in the inhibition of nitrite transport in the absence of other HANNiT (NRT2.1/NAR2 in the cell genetic background. Nitrite transport activity in the Hansenula polymorpha Δynt::URA3 Leu2 mutant was restored by expressing CrNRT2.4. These results indicate that half-size NRT2 transporters are present in photosynthetic organisms and that NRT2.4 is a HANiT.

Family Structure and Family Processes in Mexican American Families

OpenAIRE

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

2011-01-01

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,...

An efficient method to find potentially universal population genetic markers, applied to metazoans

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Chenuil Anne

2010-09-01

Full Text Available Abstract Background Despite the impressive growth of sequence databases, the limited availability of nuclear markers that are sufficiently polymorphic for population genetics and phylogeography and applicable across various phyla restricts many potential studies, particularly in non-model organisms. Numerous introns have invariant positions among kingdoms, providing a potential source for such markers. Unfortunately, most of the few known EPIC (Exon Primed Intron Crossing loci are restricted to vertebrates or belong to multigenic families. Results In order to develop markers with broad applicability, we designed a bioinformatic approach aimed at avoiding multigenic families while identifying intron positions conserved across metazoan phyla. We developed a program facilitating the identification of EPIC loci which allowed slight variation in intron position. From the Homolens databases we selected 29 gene families which contained 52 promising introns for which we designed 93 primer pairs. PCR tests were performed on several ascidians, echinoderms, bivalves and cnidarians. On average, 24 different introns per genus were amplified in bilaterians. Remarkably, five of the introns successfully amplified in all of the metazoan genera tested (a dozen genera, including cnidarians. The influence of several factors on amplification success was investigated. Success rate was not related to the phylogenetic relatedness of a taxon to the groups that most influenced primer design, showing that these EPIC markers are extremely conserved in animals. Conclusions Our new method now makes it possible to (i rapidly isolate a set of EPIC markers for any phylum, even outside the animal kingdom, and thus, (ii compare genetic diversity at potentially homologous polymorphic loci between divergent taxa.

Genetic recombination as a major cause of mutagenesis in the human globin gene clusters.

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Borg, Joseph; Georgitsi, Marianthi; Aleporou-Marinou, Vassiliki; Kollia, Panagoula; Patrinos, George P

2009-12-01

Homologous recombination is a frequent phenomenon in multigene families and as such it occurs several times in both the alpha- and beta-like globin gene families. In numerous occasions, genetic recombination has been previously implicated as a major mechanism that drives mutagenesis in the human globin gene clusters, either in the form of unequal crossover or gene conversion. Unequal crossover results in the increase or decrease of the human globin gene copies, accompanied in the majority of cases with minor phenotypic consequences, while gene conversion contributes either to maintaining sequence homogeneity or generating sequence diversity. The role of genetic recombination, particularly gene conversion in the evolution of the human globin gene families has been discussed elsewhere. Here, we summarize our current knowledge and review existing experimental evidence outlining the role of genetic recombination in the mutagenic process in the human globin gene families.

Anxa4 Genes are Expressed in Distinct Organ Systems in Xenopus laevis and tropicalis But are Functionally Conserved

OpenAIRE

Massé, Karine L; Collins, Robert J; Bhamra, Surinder; Seville, Rachel A; Jones, Elizabeth A

2007-01-01

Anxa4 belongs to the multigenic annexin family of proteins which are characterized by their ability to interact with membranes in a calcium-dependent manner. Defined as a marker for polarized epithelial cells, Anxa4 is believed to be involved in many cellular processes but its functions in vivo are still poorly understood. Previously, we cloned Xanx4 in Xenopus laevis (now referred to as anxa4a) and demonstrated its role during organogenesis of the pronephros, providing the first evidence of ...

The MASP family of Trypanosoma cruzi: changes in gene expression and antigenic profile during the acute phase of experimental infection.

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Sara Lopes dos Santos

Full Text Available Trypanosoma cruzi is the etiological agent of Chagas disease, a debilitating illness that affects millions of people in the Americas. A major finding of the T. cruzi genome project was the discovery of a novel multigene family composed of approximately 1,300 genes that encode mucin-associated surface proteins (MASPs. The high level of polymorphism of the MASP family associated with its localization at the surface of infective forms of the parasite suggests that MASP participates in host-parasite interactions. We speculate that the large repertoire of MASP sequences may contribute to the ability of T. cruzi to infect several host cell types and/or participate in host immune evasion mechanisms.By sequencing seven cDNA libraries, we analyzed the MASP expression profile in trypomastigotes derived from distinct host cells and after sequential passages in acutely infected mice. Additionally, to investigate the MASP antigenic profile, we performed B-cell epitope prediction on MASP proteins and designed a MASP-specific peptide array with 110 putative epitopes, which was screened with sera from acutely infected mice.We observed differential expression of a few MASP genes between trypomastigotes derived from epithelial and myoblast cell lines. The more pronounced MASP expression changes were observed between bloodstream and tissue-culture trypomastigotes and between bloodstream forms from sequential passages in acutely infected mice. Moreover, we demonstrated that different MASP members were expressed during the acute T. cruzi infection and constitute parasite antigens that are recognized by IgG and IgM antibodies. We also found that distinct MASP peptides could trigger different antibody responses and that the antibody level against a given peptide may vary after sequential passages in mice. We speculate that changes in the large repertoire of MASP antigenic peptides during an infection may contribute to the evasion of host immune responses during the

The family structure of the Mucorales: a synoptic revision based on comprehensive multigene-genealogies

NARCIS (Netherlands)

Hoffmann, K.; Pawłowska, J.; Walther, G.; Wrzosek, W.; de Hoog, G.S.; Benny, G.L.; Kirk, P.M.; Voigt, K.

2013-01-01

The Mucorales (Mucoromycotina) are one of the most ancient groups of fungi comprising ubiquitous, mostly saprotrophic organisms. The first comprehensive molecular studies 11 yr ago revealed the traditional classification scheme, mainly based on morphology, as highly artificial. Since then only

Genome-wide identification, characterization of sugar transporter genes in the silkworm Bombyx mori and role in Bombyx mori nucleopolyhedrovirus (BmNPV) infection.

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Govindaraj, Lekha; Gupta, Tania; Esvaran, Vijaya Gowri; Awasthi, Arvind Kumar; Ponnuvel, Kangayam M

2016-04-01

Sugar transporters play an essential role in controlling carbohydrate transport and are responsible for mediating the movement of sugars into cells. These genes exist as large multigene families within the insect genome. In insects, sugar transporters not only have a role in sugar transport, but may also act as receptors for virus entry. Genome-wide annotation of silkworm Bombyx mori (B. mori) revealed 100 putative sugar transporter (BmST) genes exists as a large multigene family and were classified into 11 sub families, through phylogenetic analysis. Chromosomes 27, 26 and 20 were found to possess the highest number of BmST paralogous genes, harboring 22, 7 and 6 genes, respectively. These genes occurred in clusters exhibiting the phenomenon of tandem gene duplication. The ovary, silk gland, hemocytes, midgut and malphigian tubules were the different tissues/cells enriched with BmST gene expression. The BmST gene BGIBMGA001498 had maximum EST transcripts of 134 and expressed exclusively in the malphigian tubule. The expression of EST transcripts of the BmST clustered genes on chromosome 27 was distributed in various tissues like testis, ovary, silk gland, malphigian tubule, maxillary galea, prothoracic gland, epidermis, fat body and midgut. Three sugar transporter genes (BmST) were constitutively expressed in the susceptible race and were down regulated upon BmNPV infection at 12h post infection (hpi). The expression pattern of these three genes was validated through real-time PCR in the midgut tissues at different time intervals from 0 to 30hpi. In the susceptible B. mori race, expression of sugar transporter genes was constitutively expressed making the host succumb to viral infection. Copyright © 2015 Elsevier B.V. All rights reserved.

A multi-gene phylogeny of Cephalopoda supports convergent morphological evolution in association with multiple habitat shifts in the marine environment

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Lindgren Annie R

2012-07-01

Full Text Available Abstract Background The marine environment is comprised of numerous divergent organisms living under similar selective pressures, often resulting in the evolution of convergent structures such as the fusiform body shape of pelagic squids, fishes, and some marine mammals. However, little is known about the frequency of, and circumstances leading to, convergent evolution in the open ocean. Here, we present a comparative study of the molluscan class Cephalopoda, a marine group known to occupy habitats from the intertidal to the deep sea. Several lineages bear features that may coincide with a benthic or pelagic existence, making this a valuable group for testing hypotheses of correlated evolution. To test for convergence and correlation, we generate the most taxonomically comprehensive multi-gene phylogeny of cephalopods to date. We then create a character matrix of habitat type and morphological characters, which we use to infer ancestral character states and test for correlation between habitat and morphology. Results Our study utilizes a taxonomically well-sampled phylogeny to show convergent evolution in all six morphological characters we analyzed. Three of these characters also correlate with habitat. The presence of an autogenic photophore (those relying upon autonomous enzymatic light reactions is correlated with a pelagic habitat, while the cornea and accessory nidamental gland correlate with a benthic lifestyle. Here, we present the first statistical tests for correlation between convergent traits and habitat in cephalopods to better understand the evolutionary history of characters that are adaptive in benthic or pelagic environments, respectively. Discussion Our study supports the hypothesis that habitat has influenced convergent evolution in the marine environment: benthic organisms tend to exhibit similar characteristics that confer protection from invasion by other benthic taxa, while pelagic organisms possess features that

Who counts as family? Family typologies, family support, and family undermining among young adult gay and bisexual men.

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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.

Transcriptome characterisation of the ant Formica exsecta with new insights into the evolution of desaturase genes in social hymenoptera.

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Hélène Badouin

Full Text Available BACKGROUND: Despite the recent sequencing of seven ant genomes, no genomic data are available for the genus Formica, an important group for the study of eusocial traits. We sequenced the transcriptome of the ant Formica exsecta with the 454 FLX Titanium technology from a pooled sample of workers from 70 Finnish colonies. RESULTS: About 1,000,000 reads were obtained from a normalised cDNA library. We compared the assemblers MIRA3.0 and Newbler2.6 and showed that the latter performed better on this dataset due to a new option which is dedicated to improve contig formation in low depth portions of the assemblies. The 29,579 contigs represent 27 Mb. 50% showed similarity with known proteins and 25% could be assigned a category of gene ontology. We found more than 13,000 high-quality single nucleotide polymorphisms. The Δ9 desaturase gene family is an important multigene family involved in chemical communication in insects. We found six Δ9 desaturases in this Formica exsecta transcriptome dataset that were used to reconstruct a maximum-likelihood phylogeny of insect desaturases and to test for signatures of positive selection in this multigene family in ant lineages. We found differences with previous phylogenies of this gene family in ants, and found two clades potentially under positive selection. CONCLUSION: This first transcriptome reference sequence of Formica exsecta provided sequence and polymorphism data that will allow researchers working on Formica ants to develop studies to tackle the genetic basis of eusocial phenotypes. In addition, this study provided some general guidelines for de novo transcriptome assembly that should be useful for future transcriptome sequencing projects. Finally, we found potential signatures of positive selection in some clades of the Δ9 desaturase gene family in ants, which suggest the potential role of sequence divergence and adaptive evolution in shaping the large diversity of chemical cues in social insects.

Genomic Characterization of Variable Surface Antigens Reveals a Telomere Position Effect as a Prerequisite for RNA Interference-Mediated Silencing in Paramecium tetraurelia

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Baranasic, Damir; Oppermann, Timo; Cheaib, Miriam; Cullum, John; Schmidt, Helmut

2014-01-01

ABSTRACT Antigenic or phenotypic variation is a widespread phenomenon of expression of variable surface protein coats on eukaryotic microbes. To clarify the mechanism behind mutually exclusive gene expression, we characterized the genetic properties of the surface antigen multigene family in the ciliate Paramecium tetraurelia and the epigenetic factors controlling expression and silencing. Genome analysis indicated that the multigene family consists of intrachromosomal and subtelomeric genes; both classes apparently derive from different gene duplication events: whole-genome and intrachromosomal duplication. Expression analysis provides evidence for telomere position effects, because only subtelomeric genes follow mutually exclusive transcription. Microarray analysis of cultures deficient in Rdr3, an RNA-dependent RNA polymerase, in comparison to serotype-pure wild-type cultures, shows cotranscription of a subset of subtelomeric genes, indicating that the telomere position effect is due to a selective occurrence of Rdr3-mediated silencing in subtelomeric regions. We present a model of surface antigen evolution by intrachromosomal gene duplication involving the maintenance of positive selection of structurally relevant regions. Further analysis of chromosome heterogeneity shows that alternative telomere addition regions clearly affect transcription of closely related genes. Consequently, chromosome fragmentation appears to be of crucial importance for surface antigen expression and evolution. Our data suggest that RNAi-mediated control of this genetic network by trans-acting RNAs allows rapid epigenetic adaptation by phenotypic variation in combination with long-term genetic adaptation by Darwinian evolution of antigen genes. PMID:25389173

Evolution of the duplicated intracellular lipid-binding protein genes of teleost fishes.

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Venkatachalam, Ananda B; Parmar, Manoj B; Wright, Jonathan M

2017-08-01

Increasing organismal complexity during the evolution of life has been attributed to the duplication of genes and entire genomes. More recently, theoretical models have been proposed that postulate the fate of duplicated genes, among them the duplication-degeneration-complementation (DDC) model. In the DDC model, the common fate of a duplicated gene is lost from the genome owing to nonfunctionalization. Duplicated genes are retained in the genome either by subfunctionalization, where the functions of the ancestral gene are sub-divided between the sister duplicate genes, or by neofunctionalization, where one of the duplicate genes acquires a new function. Both processes occur either by loss or gain of regulatory elements in the promoters of duplicated genes. Here, we review the genomic organization, evolution, and transcriptional regulation of the multigene family of intracellular lipid-binding protein (iLBP) genes from teleost fishes. Teleost fishes possess many copies of iLBP genes owing to a whole genome duplication (WGD) early in the teleost fish radiation. Moreover, the retention of duplicated iLBP genes is substantially higher than the retention of all other genes duplicated in the teleost genome. The fatty acid-binding protein genes, a subfamily of the iLBP multigene family in zebrafish, are differentially regulated by peroxisome proliferator-activated receptor (PPAR) isoforms, which may account for the retention of iLBP genes in the zebrafish genome by the process of subfunctionalization of cis-acting regulatory elements in iLBP gene promoters.

Family Violence and Family Physicians

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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

Family functioning in the families of psychiatric patients: a comparison with nonclinical families.

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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 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 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.

Size polymorphism of chicken major histocompatibility complex-encoded B-G molecules is due to length variation in the cytoplasmic heptad repeat region

DEFF Research Database (Denmark)

Kaufman, J; Salomonsen, J; Skjødt, K

1990-01-01

B-G antigens are cell-surface molecules encoded by a highly polymorphic multigene family located in the chicken major histocompatibility complex (MHC). Rabbit antisera to B-G molecules immunoprecipitate 3-6 bands from iodinated erythrocytes by sodium dodecyl sulfate (SDS) gels under reducing......, which bear intrachain disulfide bonds. All 3-6 bands have different mobilities in SDS gels between different haplotypes, ranging from 30 to 55 kDa. This size polymorphism is not affected by glycosidase treatment or addition of protease inhibitors. Partial proteolysis of cell surface-iodinated B...

Regulation of antigenic variation in Plasmodium falciparum: censoring freedom of expression?

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Duffy, Michael F; Reeder, John C; Brown, Graham V

2003-03-01

Plasmodium falciparum employs a strategy of clonal antigenic variation to evade the host immune response during the intraerythrocytic stage of its life cycle. The major variant parasite molecule is the P. falciparum erythrocyte membrane protein (PfEMP)1, which is encoded by the var multigene family. The parasite switches between different PfEMP1 molecules through regulation of var transcription. Recent studies have shed considerable light on this process, but much remains unknown. However, striking parallels between transcriptional control of var and genes in other organisms provide direction for future studies.

In silico analysis of the fucosylation-associated genome of the human blood fluke Schistosoma mansoni: cloning and characterization of the fucosyltransferase multigene family.

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Peterson, Nathan A; Anderson, Tavis K; Yoshino, Timothy P

2013-01-01

Fucosylated glycans of the parasitic flatworm Schistosoma mansoni play key roles in its development and immunobiology. In the present study we used a genome-wide homology-based bioinformatics approach to search for genes that contribute to fucosylated glycan expression in S. mansoni, specifically the α2-, α3-, and α6-fucosyltransferases (FucTs), which transfer L-fucose from a GDP-L-fucose donor to an oligosaccharide acceptor. We identified and in silico characterized several novel schistosome FucT homologs, including six α3-FucTs and six α6-FucTs, as well as two protein O-FucTs that catalyze the unrelated transfer of L-fucose to serine and threonine residues of epidermal growth factor- and thrombospondin-type repeats. No α2-FucTs were observed. Primary sequence analyses identified key conserved FucT motifs as well as characteristic transmembrane domains, consistent with their putative roles as fucosyltransferases. Most genes exhibit alternative splicing, with multiple transcript variants generated. A phylogenetic analysis demonstrated that schistosome α3- and α6-FucTs form monophyletic clades within their respective gene families, suggesting multiple gene duplications following the separation of the schistosome lineage from the main evolutionary tree. Quantitative decreases in steady-state transcript levels of some FucTs during early larval development suggest a possible mechanism for differential expression of fucosylated glycans in schistosomes. This study systematically identifies the complete repertoire of FucT homologs in S. mansoni and provides fundamental information regarding their genomic organization, genetic variation, developmental expression, and evolutionary history.

Strengthening Family Practices for Latino Families.

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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.

Chromosomal contact permits transcription between coregulated genes

CSIR Research Space (South Africa)

Fanucchi, Stephanie

2013-10-01

Full Text Available . To ask whether chromosomal contacts are required for cotranscription in multigene complexes, we devised a strategy using TALENs to cleave and disrupt gene loops in a well-characterized multigene complex. Monitoring this disruption using RNA FISH...

A 250 plastome phylogeny of the grass family (Poaceae): topological support under different data partitions

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Burke, Sean V.; Wysocki, William P.; Clark, Lynn G.

2018-01-01

The systematics of grasses has advanced through applications of plastome phylogenomics, although studies have been largely limited to subfamilies or other subgroups of Poaceae. Here we present a plastome phylogenomic analysis of 250 complete plastomes (179 genera) sampled from 44 of the 52 tribes of Poaceae. Plastome sequences were determined from high throughput sequencing libraries and the assemblies represent over 28.7 Mbases of sequence data. Phylogenetic signal was characterized in 14 partitions, including (1) complete plastomes; (2) protein coding regions; (3) noncoding regions; and (4) three loci commonly used in single and multi-gene studies of grasses. Each of the four main partitions was further refined, alternatively including or excluding positively selected codons and also the gaps introduced by the alignment. All 76 protein coding plastome loci were found to be predominantly under purifying selection, but specific codons were found to be under positive selection in 65 loci. The loci that have been widely used in multi-gene phylogenetic studies had among the highest proportions of positively selected codons, suggesting caution in the interpretation of these earlier results. Plastome phylogenomic analyses confirmed the backbone topology for Poaceae with maximum bootstrap support (BP). Among the 14 analyses, 82 clades out of 309 resolved were maximally supported in all trees. Analyses of newly sequenced plastomes were in agreement with current classifications. Five of seven partitions in which alignment gaps were removed retrieved Panicoideae as sister to the remaining PACMAD subfamilies. Alternative topologies were recovered in trees from partitions that included alignment gaps. This suggests that ambiguities in aligning these uncertain regions might introduce a false signal. Resolution of these and other critical branch points in the phylogeny of Poaceae will help to better understand the selective forces that drove the radiation of the BOP and PACMAD

The lipoxygenase gene family: a genomic fossil of shared polyploidy between Glycine max and Medicago truncatula

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Choi Beom-Soon

2008-12-01

Full Text Available Abstract Background Soybean lipoxygenases (Lxs play important roles in plant resistance and in conferring the distinct bean flavor. Lxs comprise a multi-gene family that includes GmLx1, GmLx2 and GmLx3, and many of these genes have been characterized. We were interested in investigating the relationship between the soybean lipoxygenase isozymes from an evolutionary perspective, since soybean has undergone two rounds of polyploidy. Here we report the tetrad genome structure of soybean Lx regions produced by ancient and recent polyploidy. Also, comparative genomics with Medicago truncatula was performed to estimate Lxs in the common ancestor of soybean and Medicago. Results Two Lx regions in Medicago truncatula showing synteny with soybean were analyzed. Differential evolutionary rates between soybean and Medicago were observed and the median Ks values of Mt-Mt, Gm-Mt, and Gm-Gm paralogs were determined to be 0.75, 0.62, and 0.46, respectively. Thus the comparison of Gm-Mt paralogs (Ks = 0.62 and Gm-Mt orthologs (Ks = 0.45 supports the ancient duplication of Lx regions in the common ancestor prior to the Medicago-Glycine split. After speciation, no Lx regions generated by another polyploidy were identified in Medicago. Instead tandem duplication of Lx genes was observed. On the other hand, a lineage-specific duplication occurred in soybean resulting in two pairs of Lx regions. Each pair of soybean regions was co-orthologous to one Lx region in Medicago. A total of 34 Lx genes (15 MtLxs and 19 GmLxs were divided into two groups by phylogenetic analysis. Our study shows that the Lx gene family evolved from two distinct Lx genes in the most recent common ancestor. Conclusion This study analyzed two pairs of Lx regions generated by two rounds of polyploidy in soybean. Each pair of soybean homeologous regions is co-orthologous to one region of Medicago, demonstrating the quartet structure of the soybean genome. Differential evolutionary rates between

Family emotional expressiveness and family structure

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Čotar-Konrad Sonja

2016-01-01

Full Text Available The present paper scrutinizes the relationship between family emotional expressiveness (i.e., the tendency to express dominant and/or submissive positive and negative emotions and components of family structure as proposed in Olson’s Circumplex model (i.e., cohesion and flexibility, family communication, and satisfaction in families with adolescents. The study was conducted on a sample of 514 Slovenian adolescents, who filled out two questionnaires: the Slovenian version of Family Emotional Expressiveness - FEQ and FACES IV. The results revealed that all four basic dimensions of family functioning were significantly associated with higher/more frequent expressions of positive submissive emotions, as well as with lower/less frequent expressions of negative dominant emotions. Moreover, expressions of negative submissive emotions explained a small, but significant amount of variance in three out of four family functioning variables (satisfaction, flexibility, and communication. The importance of particular aspects of emotional expressiveness for family cohesion, flexibility, communication, and satisfaction is discussed, and the relevance of present findings for family counselling is outlined.

The Role of Family in Family Firms

OpenAIRE

Marianne Bertrand; Antoinette Schoar

2006-01-01

History is replete with examples of spectacular ascents of family businesses. Yet there are also numerous accounts of family businesses brought down by bitter feuds among family members, disappointed expectations between generations, and tragic sagas of later generations unable to manage their wealth. A large fraction of businesses throughout the world are organized around families. Why are family firms so prevalent? What are the implications of family control for the governance, financing an...

Family doctors' involvement with families in Estonia

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Lember Margus

2004-10-01

Full Text Available Abstract Background Family doctors should care for individuals in the context of their family. Family has a powerful influence on health and illness and family interventions have been shown to improve health outcomes for a variety of health problems. The aim of the study was to investigate the Estonian family doctors' (FD attitudes to the patients' family-related issues in their work: to explore the degree of FDs involvement in family matters, their preparedness for management of family-related issues and their self-assessment of the ability to manage different family-related problems. Methods A random sample (n = 236 of all FDs in Estonia was investigated using a postal questionnaire. Altogether 151 FDs responded to the questionnaire (response rate 64%, while five of them were excluded as they did not actually work as FDs. Results Of the respondents, 90% thought that in managing the health problems of patients FDs should communicate and cooperate with family members. Although most of the family doctors agreed that modifying of the health damaging risk factors (smoking, alcohol and drug abuse of their patients and families is their task, one third of them felt that dealing with these problems is ineffective, or perceived themselves as poorly prepared or having too little time for such activities. Of the respondents, 58% (n = 83 were of the opinion that they could modify also relationship problems. Conclusions Estonian family doctors are favourably disposed to involvement in family-related problems, however, they need some additional training, especially in the field of relationship management.

Family functioning of child-rearing Japanese families on family-accompanied work assignments in Hong Kong.

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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.

Families and family therapy in Hong Kong.

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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.

Preferential transcription of conserved rif genes in two phenotypically distinct Plasmodium falciparum parasite lines

DEFF Research Database (Denmark)

Wang, Christian W; Magistrado, Pamela A; Nielsen, Morten A

2009-01-01

transcribed in the VAR2CSA-expressing parasite line. In addition, two rif genes were found transcribed at early and late intra-erythrocyte stages independently of var gene transcription. Rif genes are organised in groups and inter-genomic conserved gene families, suggesting that RIFIN sub-groups may have......Plasmodium falciparum variant surface antigens (VSA) are targets of protective immunity to malaria. Plasmodium falciparum erythrocyte membrane protein 1 (PfEMP1) and repetitive interspersed family (RIFIN) proteins are encoded by the two variable multigene families, var and rif genes, respectively...... novel rif gene groups, rifA1 and rifA2, containing inter-genomic conserved rif genes, were identified. All rifA1 genes were orientated head-to-head with a neighbouring Group A var gene whereas rifA2 was present in all parasite genomes as a single copy gene with a unique 5' untranslated region. Rif...

Family environment patterns in families with bipolar children.

Science.gov (United States)

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 (pfamilies 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.

Family interactions in adoptive compared to nonadoptive families.

Science.gov (United States)

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.

Genetic analysis of the ADGF multigene family by homologous recombination and gene conversion in Drosophila

Czech Academy of Sciences Publication Activity Database

Doležal, Tomáš; Gaži, Michal; Žurovec, Michal; Bryant, P. J.

2003-01-01

Roč. 165, - (2003), s. 653-666 ISSN 0016-6731 R&D Projects: GA AV ČR IAA5007107; GA ČR GA204/01/1022; GA MŠk ME 549 Institutional research plan: CEZ:AV0Z5007907 Keywords : Growth-factor-melanogaster-adenosine Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 4.276, year: 2003

Genetic analysis of the ADGF multigene family by homologous recombination and gene conversion in Drosophila

Czech Academy of Sciences Publication Activity Database

Doležal, Tomáš; Gaži, Michal; Žurovec, Michal; Bryant, P. J.

2003-01-01

Roč. 165, - (2003), s. 653-666 ISSN 0016-6731 R&D Projects: GA AV ČR IAA5007107; GA ČR GA204/01/1022; GA MŠk ME 549 Institutional research plan: CEZ:AV0Z5007907 Keywords : Growth-factor- melanogaster -adenosine Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 4.276, year: 2003

The Family in Us: Family History, Family Identity and Self-Reproductive Adaptive Behavior.

Science.gov (United States)

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.

Family and non-family business differences in Estonia

Directory of Open Access Journals (Sweden)

Maret Kirsipuu

2014-01-01

Full Text Available This paper seeks to identify differences between family enterprises and non-family enterprises. The concepts of entrepreneurship, entrepreneur and enterprise/business are clarified. The paper contains the results of research conducted by the author among family entrepreneurs in 2007–2012 that can be compared to the research results reached by Wahl (2011. This research demonstrates that there are differences between family entrepreneurs and non-family entrepreneurs, which are primarily caused by that family entrepreneurs value first of all their family members, family traditions and only then profit earning.

Family resources study: part 1: family resources, family function and caregiver strain in childhood cancer.

Science.gov (United States)

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

Family resources study: part 1: family resources, family function and caregiver strain in childhood cancer

Directory of Open Access Journals (Sweden)

Panganiban-Corales Avegeille T

2011-10-01

Full Text Available Abstract 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

Characterization of susceptibility and resistance responses to potato cyst nematode (Globodera spp.) infection of tomato lines in the absence and presence of the broad-spectrum nematode resistance Hero gene.

Science.gov (United States)

Sobczak, Miroslaw; Avrova, Anna; Jupowicz, Justyna; Phillips, Mark S; Ernst, Karin; Kumar, Amar

2005-02-01

The tomato Hero A gene is the only member of a multigene family that confers a high level (>80%) of resistance to all the economically important pathotypes of potato cyst nematode (PCN) species Globodera rostochiensis and G. pallida. Although the resistance levels of transgenic tomato lines were similar to those of the tomato line LA1792 containing the introgressed Hero multigene family, transgenic potato plants expressing the tomato Hero A gene are not resistant to PCNs. Comparative microscopy studies of in vitro infected roots of PCN-susceptible tomato cv. Money Maker, the resistant breeding line LA1792, and transgenic line L10 with Ro1 pathotype have revealed no statistically significant difference in the number of juveniles invading roots. However, syncytia (specialized feeding cells) induced in LA1792 and L10 roots mostly were found to have degenerated a few days after their induction, and a few surviving syncytia were able to support only the development of males rather than females. Thus, the ratio between males and females was biased towards males on LA1792 and L10 roots. A series of changes occur in resistant plants leading to formation of a layer of necrotic cells separating the syncytium from stellar conductive tissues and this is followed by degradation of the syncytium. Although the Hero A gene is expressed in all tissues, including roots, stems, leaves, and flower buds, its expression is upregulated in roots in response to PCN infection. Moreover, the expression profiles of the Hero A correlates with the timing of death of the syncytium.

Family roles as family functioning regulators

OpenAIRE

STEPANYAN ARMINE

2015-01-01

The author examines the problems of formation and functioning of family roles. Having social roots, family roles appear on individual level by performing the social function of the formation of family as a social institute.

Family identity: black-white interracial family health experience.

Science.gov (United States)

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.

Family First? The Costs and Benefits of Family Centrality for Adolescents with High-Conflict Families.

Science.gov (United States)

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.

Phase 1 safety and immunogenicity evaluation of ADMVA, a multigenic, modified vaccinia Ankara-HIV-1 B'/C candidate vaccine.

Directory of Open Access Journals (Sweden)

Sandhya Vasan

Full Text Available BACKGROUND: We conducted a Phase I dose-escalation trial of ADMVA, a Clade-B'/C-based HIV-1 candidate vaccine expressing env, gag, pol, nef, and tat in a modified vaccinia Ankara viral vector. Sequences were derived from a prevalent circulating HIV-1 recombinant form in Yunnan, China, an area of high HIV incidence. The objective was to evaluate the safety and immunogenicity of ADMVA in human volunteers. METHODOLOGY/PRINCIPAL FINDINGS: ADMVA or placebo was administered intramuscularly at months 0, 1 and 6 to 50 healthy adult volunteers not at high risk for HIV-1. In each dosage group [1x10(7 (low, 5x10(7 (mid, or 2.5x10(8 pfu (high] volunteers were randomized in a 3:1 ratio to receive ADMVA or placebo in a double-blinded design. Subjects were followed for local and systemic reactogenicity, adverse events including cardiac adverse events, and clinical laboratory parameters. Study follow up was 18 months. Humoral immunogenicity was evaluated by anti-gp120 binding ELISA, immunoflourescent staining, and HIV-1 neutralization. Cellular immunogenicity was assessed by a validated IFNgamma ELISpot assay and intracellular cytokine staining. Anti-vaccinia binding titers were measured by ELISA. ADMVA was generally well-tolerated, with no vaccine-related serious adverse events or cardiac adverse events. Local or systemic reactogenicity events were reported by 77% and 78% of volunteers, respectively. The majority of events were of mild intensity. The IFNgamma ELISpot response rate to any HIV antigen was 0/12 (0% in the placebo group, 3/12 (25% in the low dosage group, 6/12 (50% in the mid dosage group, and 8/13 (62% in the high dosage group. Responses were often multigenic and occasionally persisted up to one year post vaccination. Antibodies to gp120 were detected in 0/12 (0%, 8/13 (62%, 6/12 (50% and 10/13 (77% in the placebo, low, mid, and high dosage groups, respectively. Antibodies persisted up to 12 months after vaccination, with a trend toward agreement

75 FR 17946 - Family Report, MTW Family Report

Science.gov (United States)

2010-04-08

... DEPARTMENT OF HOUSING AND URBAN DEVELOPMENT [Docket No. FR-5376-N-25] Family Report, MTW Family... comments on the subject proposal. Tenant data is collected to understand demographic, family profile.... This Notice Also Lists the Following Information Title of Proposal: Family Report, MTW Family Report...

Assessing the 5S ribosomal RNA heterogeneity in Arabidopsis thaliana using short RNA next generation sequencing data.

Science.gov (United States)

Szymanski, Maciej; Karlowski, Wojciech M

2016-01-01

In eukaryotes, ribosomal 5S rRNAs are products of multigene families organized within clusters of tandemly repeated units. Accumulation of genomic data obtained from a variety of organisms demonstrated that the potential 5S rRNA coding sequences show a large number of variants, often incompatible with folding into a correct secondary structure. Here, we present results of an analysis of a large set of short RNA sequences generated by the next generation sequencing techniques, to address the problem of heterogeneity of the 5S rRNA transcripts in Arabidopsis and identification of potentially functional rRNA-derived fragments.

Characterization Of Laccase T-DNA Mutants In Arabidopsis thaliana

DEFF Research Database (Denmark)

Andersen, Jeppe Reitan; Asp, Torben; Mansfield, Shawn

2009-01-01

Laccases (P-diphenol:O2 oxidoreductase; EC 1.10.3.2), also termed laccase-like multicopper oxidases, are blue copper-containing oxidases which comprise multigene families in plants. In the Arabidopsis thaliana genome, 17 laccase genes (LAC1 to LAC17) have been annotated. To identify laccases...... for LAC15 T-DNA mutant seeds and an approximate 24 hour delay in germination was observed for these seeds. An approximate 20% reduction in glucose, galactose, and xylose was observed in primary stem cell walls of the LAC2 T-DNA mutants while similar relative increases in xylose were observed for LAC8...

Paralog-Specific Patterns of Structural Disorder and Phosphorylation in the Vertebrate SH3-SH2-Tyrosine Kinase Protein Family.

Science.gov (United States)

Dos Santos, Helena G; Siltberg-Liberles, Jessica

2016-09-19

One of the largest multigene families in Metazoa are the tyrosine kinases (TKs). These are important multifunctional proteins that have evolved as dynamic switches that perform tyrosine phosphorylation and other noncatalytic activities regulated by various allosteric mechanisms. TKs interact with each other and with other molecules, ultimately activating and inhibiting different signaling pathways. TKs are implicated in cancer and almost 30 FDA-approved TK inhibitors are available. However, specific binding is a challenge when targeting an active site that has been conserved in multiple protein paralogs for millions of years. A cassette domain (CD) containing SH3-SH2-Tyrosine Kinase domains reoccurs in vertebrate nonreceptor TKs. Although part of the CD function is shared between TKs, it also presents TK specific features. Here, the evolutionary dynamics of sequence, structure, and phosphorylation across the CD in 17 TK paralogs have been investigated in a large-scale study. We establish that TKs often have ortholog-specific structural disorder and phosphorylation patterns, while secondary structure elements, as expected, are highly conserved. Further, domain-specific differences are at play. Notably, we found the catalytic domain to fluctuate more in certain secondary structure elements than the regulatory domains. By elucidating how different properties evolve after gene duplications and which properties are specifically conserved within orthologs, the mechanistic understanding of protein evolution is enriched and regions supposedly critical for functional divergence across paralogs are highlighted. © The Author 2016. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution.

Family Ties: The Role of Family Context in Family Health History Communication about Cancer

Science.gov (United States)

Rodríguez, Vivian M.; Corona, Rosalie; Bodurtha, Joann N.; Quillin, John M.

2016-01-01

Family health history about cancer is an important prevention and health promotion tool. Yet, few studies have identified family context factors that promote such discussions. We explored relations among family context (cohesion, flexibility, and openness), self-efficacy, and cancer communication (gathering family history, sharing cancer risk information, and frequency) in a diverse group of women enrolled in a randomized control trial. Baseline survey data for 472 women were analyzed. Average age was 34 years, 59% identified as Black, 31% graduated high school, and 75% reported a family history of any cancer. Results showed that greater family cohesion and flexibility were related to higher communication frequency and sharing cancer information. Women who reported greater self-efficacy were more likely to have gathered family history, shared cancer risk information, and communicated more frequently with relatives. Openness was not associated with communication but was related to greater family cohesion and flexibility. Adjusting for demographic variables, self-efficacy and family cohesion significantly predicted communication frequency. Women with higher self-efficacy were also more likely to have gathered family health history about cancer and shared cancer risk information. Future research may benefit from considering family organization and self-efficacy when developing psychosocial theories that, in turn, inform cancer prevention interventions. PMID:26735646

Family Ties: The Role of Family Context in Family Health History Communication About Cancer.

Science.gov (United States)

Rodríguez, Vivian M; Corona, Rosalie; Bodurtha, Joann N; Quillin, John M

2016-01-01

Family health history about cancer is an important prevention and health promotion tool. Yet few studies have identified family context factors that promote such discussions. We explored relations among family context (cohesion, flexibility, and openness), self-efficacy, and cancer communication (gathering family history, sharing cancer risk information, and frequency) in a diverse group of women enrolled in a randomized control trial. Baseline survey data for 472 women were analyzed. The women's average age was 34 years, 59% identified as Black, 31% had graduated high school, and 75% reported a family history of any cancer. Results showed that greater family cohesion and flexibility were related to higher communication frequency and sharing cancer information. Women who reported greater self-efficacy were more likely to have gathered family history, shared cancer risk information, and communicated more frequently with relatives. Openness was not associated with communication but was related to greater family cohesion and flexibility. Adjusting for demographic variables, self-efficacy, and family cohesion significantly predicted communication frequency. Women with higher self-efficacy were also more likely to have gathered family health history about cancer and shared cancer risk information. Future research may benefit from considering family organization and self-efficacy when developing psychosocial theories that in turn inform cancer prevention interventions.

Family Psychology and Family Therapy in Japan.

Science.gov (United States)

Kameguchi, Kenji; Murphy-Shigematsu, Stephen

2001-01-01

Reviews the development of family psychology and family therapy in Japan, tracing the origins of these movements, explaining how these fields were activated by the problem of school refusal, and describing an approach to family therapy that has been developed to work with families confronting this problem, as well as preventive programs of family…

Engaging Families in In-Home Family Intervention

Science.gov (United States)

Thompson, Ronald W.; Koley, Sarah

2014-01-01

Boys Town has created a program called In-Home Family Services to deliver help to families in stress. In-home family intervention programs have become widely used to help more families who are at risk and experiencing difficulties with a wide range of problems including domestic violence, child behavior problems, parent-child and family…

Another way to teach family: family nursing game

Directory of Open Access Journals (Sweden)

Carla Sílvia Neves da Nova Fernandes

2014-10-01

Full Text Available Current paper describes the application of an innovative strategy to teach family, within a hospital context, by sensitizing nurses on the family subject through the use of a game. Given the hospitalization of a relative, the family faces changes in its dynamics caused by the crisis it is exposed to. It is the relevance for including the family within the care process. Since nurses are expected to assume a key role for which they need specific competence to intervene in families when experiencing an eventual crisis. The in-service education becomes a strategy of generating new skills and enhances human capital to improve the quality of nursing care. Considering the importance of including family in the care context, a playful tool called Family Nursing Game has been invented for teaching the family, especially by passing a model of family intervention. The strategy is based on the belief of the existence of relationship between game and learning.

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

Science.gov (United States)

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.

Family Demands, Social Support and Family Functioning in Taiwanese Families Rearing Children with Down Syndrome

Science.gov (United States)

Hsiao, C-Y.

2014-01-01

Background: 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…

The Alcohol Dehydrogenase Gene Family in Melon (Cucumis melo L.: Bioinformatic Analysis and Expression Patterns

Directory of Open Access Journals (Sweden)

Yazhong eJin

2016-05-01

Full Text Available Alcohol dehydrogenases (ADH, encoded by multigene family in plants, play a critical role in plant growth, development, adaptation, fruit ripening and aroma production. Thirteen ADH genes were identified in melon genome, including 12 ADHs and one formaldehyde dehydrogenease (FDH, designated CmADH1-12 and CmFDH1, in which CmADH1 and CmADH2 have been isolated in Cantaloupe. ADH genes shared a lower identity with each other at the protein level and had different intron-exon structure at nucleotide level. No typical signal peptides were found in all CmADHs, and CmADH proteins might locate in the cytoplasm. The phylogenetic tree revealed that 13 ADH genes were divided into 3 groups respectively, namely long-, medium- and short-chain ADH subfamily, and CmADH1,3-11, which belongs to the medium-chain ADH subfamily, fell into 6 medium-chain ADH subgroups. CmADH12 may belong to the long-chain ADH subfamily, while CmFDH1 may be a Class III ADH and serve as an ancestral ADH in melon. Expression profiling revealed that CmADH1, CmADH2, CmADH10 and CmFDH1 were moderately or strongly expressed in different vegetative tissues and fruit at medium and late developmental stages, while CmADH8 and CmADH12 were highly expressed in fruit after 20 days. CmADH3 showed preferential expression in young tissues. CmADH4 only had slight expression in root. Promoter analysis revealed several motifs of CmADH genes involved in the gene expression modulated by various hormones, and the response pattern of CmADH genes to ABA, IAA and ethylene were different. These CmADHs were divided into ethylene-sensitive and –insensitive groups, and the functions of CmADHs were discussed.

Family Care Responsibilities and Employment: Exploring the Impact of Type of Family Care on Work-Family and Family-Work Conflict

Science.gov (United States)

Stewart, Lisa M.

2013-01-01

This study compared work-family and family-work conflict for employed family caregivers with disability-related care responsibilities in contrast to employed family caregivers with typical care responsibilities. Using data from the 2002 National Study of the Changing Workforce, a population-based survey of the U.S. workforce, formal and informal…

When Darwin meets Lorenz: Evolving new chaotic attractors through genetic programming

International Nuclear Information System (INIS)

Pan, Indranil; Das, Saptarshi

2015-01-01

Highlights: •New 3D continuous time chaotic systems with analytical expressions are obtained. •The multi-gene genetic programming (MGGP) paradigm is employed to achieve this. •Extends earlier works for evolving generalised family of Lorenz attractors. •Over one hundred of new chaotic attractors along with their parameters are reported. •The MGGP method have the potential for finding other similar chaotic attractors. -- Abstract: In this paper, we propose a novel methodology for automatically finding new chaotic attractors through a computational intelligence technique known as multi-gene genetic programming (MGGP). We apply this technique to the case of the Lorenz attractor and evolve several new chaotic attractors based on the basic Lorenz template. The MGGP algorithm automatically finds new nonlinear expressions for the different state variables starting from the original Lorenz system. The Lyapunov exponents of each of the attractors are calculated numerically based on the time series of the state variables using time delay embedding techniques. The MGGP algorithm tries to search the functional space of the attractors by aiming to maximise the largest Lyapunov exponent (LLE) of the evolved attractors. To demonstrate the potential of the proposed methodology, we report over one hundred new chaotic attractor structures along with their parameters, which are evolved from just the Lorenz system alone

Family Therapy

Science.gov (United States)

Family therapy Overview Family therapy is a type of psychological counseling (psychotherapy) that can help family members improve communication and resolve conflicts. Family therapy is usually provided by a psychologist, ...

24 CFR 982.515 - Family share: Family responsibility.

Science.gov (United States)

2010-04-01

... URBAN DEVELOPMENT SECTION 8 TENANT BASED ASSISTANCE: HOUSING CHOICE VOUCHER PROGRAM Rent and Housing 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...

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

Science.gov (United States)

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…

Family dynamics and infant temperament in Danish families

DEFF Research Database (Denmark)

Wilson, M.E.; Hall, Elisabeth O.C.; White, M.A.

1994-01-01

temperament. A sample of 99 families in Odense, Denmark, completed the Family Dynamics Measure in the third trimester of pregnancy and again when the infant was 8-9 months old. At this second time, the mothers also completed the Revised Infant Temperament Questionnaire. Overall we found small changes......Transition to parenthood involves the fine balance of family dynamics which both affect, and are affected by, the infant's temperament. The purpose of this study was to investigate changes in family dynamics over the transition to parenthood and the relationship of family dynamics to infant......, although always in a negative direction, in family dynamics over this transition. The largest change was an increase in perceived role conflict reported by both mothers and fathers. Mothers reported more role conflict than fathers. Positive family dynamics were related to infant rhythmicity....

Family dynamics and infant temperament in Danish families

DEFF Research Database (Denmark)

Wilson, M.E.; Hall, Elisabeth O.C.; White, M.A.

1994-01-01

, although always in a negative direction, in family dynamics over this transition. The largest change was an increase in perceived role conflict reported by both mothers and fathers. Mothers reported more role conflict than fathers. Positive family dynamics were related to infant rhythmicity.......Transition to parenthood involves the fine balance of family dynamics which both affect, and are affected by, the infant's temperament. The purpose of this study was to investigate changes in family dynamics over the transition to parenthood and the relationship of family dynamics to infant...... temperament. A sample of 99 families in Odense, Denmark, completed the Family Dynamics Measure in the third trimester of pregnancy and again when the infant was 8-9 months old. At this second time, the mothers also completed the Revised Infant Temperament Questionnaire. Overall we found small changes...

Family governance practices and teambuilding : Paradox of the enterprising family

NARCIS (Netherlands)

Berent-Braun, M.M.; Uhlaner, L.M.

2012-01-01

This paper explores the relationship between family governance practices and financial performance of the business and family assets of business-owning families. A business-owning family that shares a focus on preserving and growing wealth as a family is defined as the enterprising family. Results

Dissolved families

DEFF Research Database (Denmark)

Christoffersen, Mogens

The situation in the family preceding a family separation is studied here, to identify risk factors for family dissolution. Information registers covering prospective statistics about health aspects, demographic variables, family violence, self-destructive behaviour, unemployment, and the spousal...

Associations between family characteristics and parental empowerment in the family, family service situations and the family service system.

Science.gov (United States)

Vuorenmaa, M; Perälä, M-L; Halme, N; Kaunonen, M; Åstedt-Kurki, P

2016-01-01

Parental empowerment signifies parents' sense of confidence in managing their children, interacting with services that their children use and improving child care services. High empowerment is associated with parents' resilience to demands and their confidence to make decisions and take actions that positively affect their families. Most families with children access various healthcare and education services. Professionals working in these services are therefore ideally placed to reinforce parental empowerment. However, little is known about the characteristics associated with parental empowerment within a generic sample of parents or in the context of basic child care services. The aim of this study was to assess how family characteristics are associated with maternal and paternal empowerment in the family, in service situations and in the service system. Parental empowerment was measured among 955 parents (mothers = 571; fathers = 384) of children aged 0-9 years using the Generic Family Empowerment Scale. Family characteristics were assessed through questions on children, parents and the life situation. Associations between empowerment and family characteristics were evaluated using one-way analysis of variance and t-test. Parental empowerment was predicted by multiple linear regression analysis. Parents' concerns related to their parenting, such as whether they possessed sufficient skills as a parent or losing their temper with children, as well as experiences of stress in everyday life, were negatively associated with all dimensions of maternal and paternal empowerment. Both determinants were more common and more significant in empowerment than child-related problems. Promoting parental self-confidence and providing appropriate emotional and concrete support for everyday functioning may reinforce parental empowerment, thereby enhancing families' well-being and coping, as well as improving their access to required services and timely support. Finally

Jamaican families.

Science.gov (United States)

Miner, Dianne Cooney

2003-01-01

The study of the family in the Caribbean originated with European scholars who assumed the universality of the patriarchal nuclear family and the primacy of this structure to the healthy functioning of society. Matrifocal Caribbean families thus were seen as chaotic and disorganized and inadequate to perform the essential tasks of the social system. This article provides a more current discussion of the Jamaican family. It argues that its structure is the result of the agency and adaptation of its members and not the root cause of the increasing marginalization of peoples in the developing world. The article focuses on families living in poverty and how the family structure supports essential family functions, adaptations, and survival.

Roles for Msx and Dlx homeoproteins in vertebrate development.

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Bendall, A J; Abate-Shen, C

2000-04-18

This review provides a comparative analysis of the expression patterns, functions, and biochemical properties of Msx and Dlx homeobox genes. These comprise multi-gene families that are closely related with respect to sequence features as well as expression patterns during vertebrate development. Thus, members of the Msx and Dlx families are expressed in overlapping, but distinct, patterns and display complementary or antagonistic functions, depending upon the context. A common theme shared among Msx and Dlx genes is that they are required during early, middle, and late phases of development where their differential expression mediates patterning, morphogenesis, and histogenesis of tissues in which they are expressed. With respect to their biochemical properties, Msx proteins function as transcriptional repressors, while Dlx proteins are transcriptional activators. Moreover, their ability to oppose each other's transcriptional actions implies a mechanism underlying their complementary or antagonistic functions during development.

Small family, smart family? : family size and the IQ scores of young men

OpenAIRE

Black, Sandra E.; Devereux, Paul J.; Salvanes, Kjell Gunnar

2007-01-01

How do families influence the ability of children? Cognitive skills have been shown to be a strong predictor of educational attainment and future labor market success; as a result, understanding the determinants of cognitive skills can lead to a better understanding of children's long run outcomes. This paper uses a large dataset on the male population of Norway and focuses on one family characteristic: the effect of family size on IQ. Because of the endogeneity of family size, we instrument ...

Family Capital: Implications for Interventions with Families

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Belcher, John R.; Peckuonis, Edward V.; Deforge, Bruce R.

2011-01-01

Social capital has been extensively discussed in the literature as building blocks that individuals and communities utilize to leverage system resources. Similarly, some families also create capital, which can enable members of the family, such as children, to successfully negotiate the outside world. Families in poverty confront serious…

Amino acid transporter expansions associated with the evolution of obligate endosymbiosis in sap-feeding insects (Hemiptera: sternorrhyncha).

Science.gov (United States)

Dahan, Romain A; Duncan, Rebecca P; Wilson, Alex C C; Dávalos, Liliana M

2015-03-25

Mutualistic obligate endosymbioses shape the evolution of endosymbiont genomes, but their impact on host genomes remains unclear. Insects of the sub-order Sternorrhyncha (Hemiptera) depend on bacterial endosymbionts for essential amino acids present at low abundances in their phloem-based diet. This obligate dependency has been proposed to explain why multiple amino acid transporter genes are maintained in the genomes of the insect hosts. We implemented phylogenetic comparative methods to test whether amino acid transporters have proliferated in sternorrhynchan genomes at rates grater than expected by chance. By applying a series of methods to reconcile gene and species trees, inferring the size of gene families in ancestral lineages, and simulating the null process of birth and death in multi-gene families, we uncovered a 10-fold increase in duplication rate in the AAAP family of amino acid transporters within Sternorrhyncha. This gene family expansion was unmatched in other closely related clades lacking endosymbionts that provide essential amino acids. Our findings support the influence of obligate endosymbioses on host genome evolution by both inferring significant expansions of gene families involved in symbiotic interactions, and discovering increases in the rate of duplication associated with multiple emergences of obligate symbiosis in Sternorrhyncha.

Family medical leave as a resilience resource for family caregivers.

Science.gov (United States)

Swanke, Jayme; Zeman, Laura Dreuth

2009-01-01

Case managers mobilize family networks to care for patients. Family medical leave can be a resource for case managers who seek to enhance resilience among family caregivers. The Family Medical Leave Act, passed in 1993, was the first U.S. policy to regulate employee leaves from work for family care purposes (29 CFR 825.102). This policy offers family caregivers increased flexibility and equality. Current and emerging policies also can reduce financial strain. The discussion examines how case managers can integrate family medical leave into best-practice models to support patients and family caregivers.

Nontraditional family romance.

Science.gov (United States)

Corbett, K

2001-07-01

Family stories lie at the heart of psychoanalytic developmental theory and psychoanalytic clinical technique, but whose family? Increasingly, lesbian and gay families, multiparent families, and single-parent families are relying on modern reproductive technologies to form families. The contemplation of these nontraditional families and the vicissitudes of contemporary reproduction lead to an unknowing of what families are, including the ways in which psychoanalysts configure the family within developmental theory. This article focuses on the stories that families tell in order to account for their formation--stories that include narratives about parental union, parental sexuality, and conception. The author addresses three constructs that inform family stories and that require rethinking in light of the category crises posed by and for the nontraditional family: (1) normative logic, (2) family reverie and the construction of a family romance, and (3) the primal scene. These constructs are examined in tandem with detailed clinical material taken from the psychotherapy of a seven-year-old boy and his two mothers.

Dual-career family as an exampleof egalitarian family

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Joanna Ostrouch-Kamińska

2011-11-01

Full Text Available The economic, cultural, and social transformation, growth of women's economic strength as well as the level of their education, and development of ideas of equal rights of women and men on the labour market and in social life cause changes in gender relation in the family. Poles more and more often declare and support egalitarian family, and a new model of a family appears among existing ones – dual-career family.The main aim of the article is to consider the sources of its rise, description of gender positions in marital relation, the division of tasks and responsibilities, possible dilemmas and conflicts, but also emotional, intellectual and social advantages. The analysis were put into context of changes in defining and describing family, and also in context of different family discourses. One of them was underlined the most – egalitarian one as the most approximate to the way of defining and understanding dual-career family model.

Where are family theories in family-based obesity treatment?: conceptualizing the study of families in pediatric weight management

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Skelton, JA; Buehler, C; Irby, MB; Grzywacz, JG

2014-01-01

Family-based approaches to pediatric obesity treatment are considered the ‘gold-standard,’ and are recommended for facilitating behavior change to improve child weight status and health. If family-based approaches are to be truly rooted in the family, clinicians and researchers must consider family process and function in designing effective interventions. To bring a better understanding of family complexities to family-based treatment, two relevant reviews were conducted and are presented: (1) a review of prominent and established theories of the family that may provide a more comprehensive and in-depth approach for addressing pediatric obesity; and (2) a systematic review of the literature to identify the use of prominent family theories in pediatric obesity research, which found little use of theories in intervention studies. Overlapping concepts across theories include: families are a system, with interdependence of units; the idea that families are goal-directed and seek balance; and the physical and social environment imposes demands on families. Family-focused theories provide valuable insight into the complexities of families. Increased use of these theories in both research and practice may identify key leverage points in family process and function to prevent the development of or more effectively treat obesity. The field of family studies provides an innovative approach to the difficult problem of pediatric obesity, building on the long-established approach of family-based treatment. PMID:22531090

Determination of Wolbachia Diversity in Butterflies from Western Ghats, India, by a Multigene Approach

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Salunke, Bipinchandra K.; Salunkhe, Rahul C.; Dhotre, Dhiraj P.; Walujkar, Sandeep A.; Khandagale, Avinash B.; Chaudhari, Rahul; Chandode, Rakesh K.; Ghate, Hemant V.; Patole, Milind S.; Werren, John H.

2012-01-01

Members of the genus Wolbachia are intracellular bacteria that are widespread in arthropods and establish diverse symbiotic associations with their hosts, ranging from mutualism to parasitism. Here we present the first detailed analyses of Wolbachia in butterflies from India with screening of 56 species. Twenty-nine species (52%) representing five families were positive for Wolbachia. This is the first report of Wolbachia infection in 27 of the 29 species; the other two were reported previously. This study also provides the first evidence of infection in the family Papilionidae. A striking diversity was observed among Wolbachia strains in butterfly hosts based on five multilocus sequence typing (MLST) genes, with 15 different sequence types (STs). Thirteen STs are new to the MLST database, whereas ST41 and ST125 were reported earlier. Some of the same host species from this study carried distinctly different Wolbachia strains, whereas the same or different butterfly hosts also harbored closely related Wolbachia strains. Butterfly-associated STs in the Indian sample originated by recombination and point mutation, further supporting the role of both processes in generating Wolbachia diversity. Recombination was detected only among the STs in this study and not in those from the MLST database. Most of the strains were remarkably similar in their wsp genotype, despite divergence in MLST. Only two wsp alleles were found among 25 individuals with complete hypervariable region (HVR) peptide profiles. Although both wsp and MLST show variability, MLST gives better separation between the strains. Completely different STs were characterized for the individuals sharing the same wsp alleles. PMID:22504801

100 million years of multigene family evolution: origin and evolution of the avian MHC class IIB

Czech Academy of Sciences Publication Activity Database

Goebel, J.; Promerová, Marta; Bonadonna, F.; McCoy, K. D.; Serbielle, C.; Strandh, M.; Yannic, G.; Burri, R.; Fumagalli, L.

2017-01-01

Roč. 18, č. 460 (2017), s. 1-9 ISSN 1471-2164 R&D Projects: GA ČR GAP505/10/1871 Institutional support: RVO:68081766 Keywords : Birds * Birth -death evolution * Concerted evolution * Gene duplication * Gene conversion * Major histocompatibility complex * Recombination Subject RIV: EG - Zoology OBOR OECD: Genetics and heredity (medical genetics to be 3) Impact factor: 3.729, year: 2016

100 million years of multigene family evolution: origin and evolution of the avian MHC class IIB

Czech Academy of Sciences Publication Activity Database

Goebel, J.; Promerová, Marta; Bonadonna, F.; McCoy, K. D.; Serbielle, C.; Strandh, M.; Yannic, G.; Burri, R.; Fumagalli, L.

2017-01-01

Roč. 18, č. 460 (2017), s. 1-9 ISSN 1471-2164 R&D Projects: GA ČR GAP505/10/1871 Institutional support: RVO:68081766 Keywords : Birds * Birth-death evolution * Concerted evolution * Gene duplication * Gene conversion * Major histocompatibility complex * Recombination Subject RIV: EG - Zoology OBOR OECD: Genetics and heredity (medical genetics to be 3) Impact factor: 3.729, year: 2016

Gene number determination and genetic polymorphism of the gamma delta T cell co-receptor WC1 genes

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Chen Chuang

2012-10-01

Full Text Available Abstract Background WC1 co-receptors belong to the scavenger receptor cysteine-rich (SRCR superfamily and are encoded by a multi-gene family. Expression of particular WC1 genes defines functional subpopulations of WC1+ γδ T cells. We have previously identified partial or complete genomic sequences for thirteen different WC1 genes through annotation of the bovine genome Btau_3.1 build. We also identified two WC1 cDNA sequences from other cattle that did not correspond to sequences in the Btau_3.1 build. Their absence in the Btau_3.1 build may have reflected gaps in the genome assembly or polymorphisms among animals. Since the response of γδ T cells to bacterial challenge is determined by WC1 gene expression, it was critical to understand whether individual cattle or breeds differ in the number of WC1 genes or display polymorphisms. Results Real-time quantitative PCR using DNA from the animal whose genome was sequenced (“Dominette” and sixteen other animals representing ten breeds of cattle, showed that the number of genes coding for WC1 co-receptors is thirteen. The complete coding sequences of those thirteen WC1 genes is presented, including the correction of an error in the WC1-2 gene due to mis-assembly in the Btau_3.1 build. All other cDNA sequences were found to agree with the previous annotation of complete or partial WC1 genes. PCR amplification and sequencing of the most variable N-terminal SRCR domain (domain 1 which has the SRCR “a” pattern of each of the thirteen WC1 genes showed that the sequences are highly conserved among individuals and breeds. Of 160 sequences of domain 1 from three breeds of cattle, no additional sequences beyond the thirteen described WC1 genes were found. Analysis of the complete WC1 cDNA sequences indicated that the thirteen WC1 genes code for three distinct WC1 molecular forms. Conclusion The bovine WC1 multi-gene family is composed of thirteen genes coding for three structural forms whose

Use of family management styles in family intervention research.

Science.gov (United States)

Alderfer, Melissa A

2006-01-01

Family management styles (FMSs) explain some of the complexities embedded in a family with a child who has chronic illness. The FMS typologies provide descriptions of family adjustment and management of care. These 5 distinct patterns may be valuable in tailoring and evaluating family interventions in research.

Family Privilege

Science.gov (United States)

Seita, John R.

2014-01-01

Family privilege is defined as "strengths and supports gained through primary caring relationships." A generation ago, the typical family included two parents and a bevy of kids living under one roof. Now, every variation of blended caregiving qualifies as family. But over the long arc of human history, a real family was a…

Small Family, Smart Family? Family Size and the IQ Scores of Young Men

Science.gov (United States)

Black, Sandra E.; Devereux, Paul J.; Salvanes, Kjell G.

2010-01-01

This paper uses Norwegian data to estimate the effect of family size on IQ scores of men. Instrumental variables (IV) estimates using sex composition as an instrument show no significant negative effect of family size; however, IV estimates using twins imply that family size has a negative effect on IQ scores. Our results suggest that the effect…

Understanding familial and non-familial renal cell cancer.

Science.gov (United States)

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.

Family Functioning and Child Psychopathology: Individual Versus Composite Family Scores.

Science.gov (United States)

Mathijssen, Jolanda J. J. P.; Koot, Hans M.; Verhulst, Frank C.; De Bruyn, Eric E. J.; Oud, Johan H. L.

1997-01-01

Examines the relationship of individual family members' perceptions and family mean and discrepancy scores of cohesion and adaptability with child psychopathology in a sample of 138 families. Results indicate that family mean scores, contrary to family discrepancy scores, explain more of the variance in parent-reported child psychopathology than…

Family pediatrics: report of the Task Force on the Family.

Science.gov (United States)

Schor, Edward L

2003-06-01

WHY A TASK FORCE ON THE FAMILY? The practice of pediatrics is unique among medical specialties in many ways, among which is the nearly certain presence of a parent when health care services are provided for the patient. Regardless of whether parents or other family members are physically present, their influence is pervasive. Families are the most central and enduring influence in children's lives. Parents are also central in pediatric care. The health and well-being of children are inextricably linked to their parents' physical, emotional and social health, social circumstances, and child-rearing practices. The rising incidence of behavior problems among children attests to some families' inability to cope with the increasing stresses they are experiencing and their need for assistance. When a family's distress finds its voice in a child's symptoms, pediatricians are often parents' first source for help. There is enormous diversity among families-diversity in the composition of families, in their ethnic and racial heritage, in their religious and spiritual orientation, in how they communicate, in the time they spend together, in their commitment to individual family members, in their connections to their community, in their experiences, and in their ability to adapt to stress. Within families, individuals are different from one another as well. Pediatricians are especially sensitive to differences among children-in their temperaments and personalities, in their innate and learned abilities, and in how they view themselves and respond to the world around them. It is remarkable and a testament to the effort of parents and to the resilience of children that most families function well and most children succeed in life. Family life in the United States has been subjected to extensive scrutiny and frequent commentary, yet even when those activities have been informed by research, they tend to be influenced by personal experience within families and by individual and

Maternity and family leave policies in rural family practices.

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Mainguy, S; Crouse, B J

1998-09-01

To help recruit and retain physicians, especially women, rural family practice groups need to establish policies regarding maternity and other family leaves. Also important are policies regarding paternity leave, adoptive leave, and leave to care for elderly parents. We surveyed members of the American Academy of Family Physicians in rural practice in 1995 to assess the prevalence of leave policies, the degree to which physicians are taking family leave, and the characteristics of ideal policies. Currently, both men and women physicians are taking family leaves of absence, which indicates a need for leave policies. Furthermore, a lack of family leave policies may deter women from entering rural practice.

Opportunity NYC--Family Rewards: Qualitative Study of Family Communication

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Fraker, Carolyn A.; Greenberg, David

2011-01-01

Aimed at low-income families in six of New York City's highest-poverty communities, the Family Rewards program ties cash rewards to a pre-specified set of activities. This paper presents the qualitative findings from interviews with 77 families. It examines how families incorporated the program into their households, and specifically the…

A perfect fit: connecting family therapy skills to family business needs.

Science.gov (United States)

Cole, Patricia M; Johnson, Kit

2012-06-01

The purpose of this article is to encourage family therapists to become more interested in family business practice. It does so in three ways: (a) highlighting the number of therapists already involved in family business issues; (b) showing the parallels between family business and family therapy by applying family business research findings to couples therapy; (c) discussing how family therapists already have the practice wisdom to be effective in working with family business clients. Limitations of this practice are also discussed along with suggestions for overcoming them. © 2012 American Association for Marriage and Family Therapy.

Comparative study of Chalcone synthase promoters across plant families

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Francisco Buitrago

2009-07-01

Full Text Available En la era post-genómica, el entendimiento de la regulación génica se ha convertido en un reto y una prioridad de investigación. En este trabajo realizamos un estudio comparativo de las secuencias reguladoras del gen de la chalcón sintetasa de varias familias botánicas. Veintidós secuencias de promotores de Chalcone Synthase fueron comparados teniendo en cuenta tres elementos Cis reguladores: Caja-G, Caja-H y Caja-TATA, que podrían estar actuando como una sola unidad cooperativa. Nuestra comparación muestra que estos elementos puede que se conserven en algunas especies e inclusive que se conserven a nivel de familia. Sin embargo, en algunas especies no todos los elementos Cis fueron encontrados, mostrando que no todas las especies se regulan bajo los mismos parámetros. Adicionalmente, una comparación entre promotores de una misma especie con una familia de multigenes Chs, mostró que los genes duplicados son variables en la composición del elemento Cis, sugiriendo que estos genes pueden estarse expresando de maneras diferentes.

Rice Multi-Gene Analysis

Indian Academy of Sciences (India)

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Click here for a legend that explains the icons and colors in the image below. Click here to ..... PARE Data. We display these signature images when the abundance view option is set to "Individual ..... These data comprise two libraries from the ...

Family dynamics in families with children with Attention Deficit Hyperactivity Disorder.

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Chu, Kangkang; Li, Shasha; Chen, Yixin; Wang, Mingchun

2012-10-01

Development of adjunctive family therapy for the treatment of children with Attention Deficit Hyperactivity Disorder (ADHD) in China requires a detailed understanding of the family dynamics of these families. Assess the family dynamics of families with children who have ADHD in Nanjing, China. Forty-six children 10 to 17 years of age treated at the Nanjing Brain Hospital for ADHD and 46 control children of the same age and gender from schools in Nanjing completed the 19-item Questionnaire of Systematic Family Dynamics (QSFD) which assesses four dimensions of family functioning: Family Atmosphere, Individuation, Moral Absolutism, and Personal Responsibility for Psychological Problems. There were no differences between groups in the perceived causes of psychological problems but the ADHD children reported a poorer family atmosphere, less independence from parents, and more ambiguity about 'right' and 'wrong' in the family. After adjustment for the potential confounding effects of parental education and family economic status, the findings of poorer family atmosphere and less individuation in the ADHD children remained statistically significant. The internal consistency of the four dimensions of the QSFD as completed by the children were poor (alpha=0.44-0.53). This preliminary study on the family dynamics of families with children that have ADHD finds that the ADHD children report a poor family atmosphere and little independence from parents. Further work is needed to validate the methods for assessing family dynamics in Chinese families, particularly when using children as informants, but this method provides valuable information that could be used as the focus of adjunctive family therapy to augment the traditional pharmacological and behavioral approaches to the treatment of ADHD.

Study of a family that overcomes poverty issues: family resilience?

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María Ángela Mattar Yunes

2015-09-01

Full Text Available Generally, researches with families focus the difficulties and the negative aspects of family life by bringing up their maladjustments and failures. The interest in family resilience contributes to change this logic by demonstrating the healthy aspects of the family world. Nevertheless, the term resilience presents ideological controversies which are more severe when the discussion is about families and poverty. In order to diminish these contradictions this study adopted a systemic concept of resilience which refers to “those processes that make possible to overcome adversities”. A case study was realized with a low income family who lived in a “very poor” neighborhood in the deep south of Brazil. The methodological strategies to the formal investigation of the family were: life history of the family using the principles of reflexive interview, genograms and data analyses through the approach of the grounded theory. The results showed that the family lived a number of risk experiences such as adoption, privation of basic needs, migration and diseases. Among the indicators of their abilities of “overcoming adversities”, emerged the belief system as the core of the discourses. The family showed that they value the interpersonal relationships through intra and extra familiar interactions based in the patterns of help, learning, affection and solidarity. During the crisis the family gives meaning to the difficulties in order to maintaining the situation controlled through cohesion, open communication, mutual respect and getting support of the extended family/ social network. The pos-adversity period is perceived as benefic and transforming as the family feels stronger and with feelings of solidarity, which is a mark of this family. Their attitude in relation to the neighborhood is active in the sense of promoting the welfare of other families who live in the same social address. Would those above identified processes be adequate to

Exploring families' experiences of health: contributions to a model of family health.

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Smith, Sarah L; DeGrace, Beth; Ciro, Carrie; Bax, Ami; Hambrick, Andrea; James, Jennifer; Evans, Alexandra

2017-12-01

Child health and developmental outcomes are influenced by the health of the family and the context created. Research suggests symptoms of poor family health (e.g. suboptimal family interactions, parenting stress) yet there is limited understanding of the factors which contribute to robust family health which may unveil opportunities for targeted intervention and family health promotion. The present study examined families' experiences of family health and factors contributing to family health. We performed a qualitative study using constructivist grounded theory methods to guide our understanding of family health for families with typically developing children aged 5-18. Interviews were conducted in family homes and all members were invited to participate. Data from interviews were transcribed, coded, thematically analyzed, and verified with select families. Ten families, including 10 mothers, 8 fathers, and 15 children participated in the study. Participants described family health as a process of balance, living purposefully, and sharing experiences together in alignment with family identity. Mediating family health were processes of awareness and reflection, and adapting, adjusting, and changing in response to family life including external stress factors. Results highlight the possibility for healthcare practitioners to facilitate families' self-reflection and awareness about their health in order to mediate family health development.

Family Spirituality and Family Health Among Korean-American Elderly Couples.

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Kim, Suk-Sun; Kim-Godwin, Yeoun Soo; Koenig, Harold G

2016-04-01

Spirituality has been regarded as an individual and private matter; consequently, research on spirituality as a family phenomenon has been largely neglected. In addition, most published research has been focused on Western cultures. The purpose of this study was to explore the experience of family spirituality and how it influences health among Korean-American elderly couples who are the first generation to reside in the Southeastern USA. A thematic and interpretive data analysis method was used. Thirteen elderly couples (N = 26) participated in in-depth individual interviews in Korean with the primary author. Interviews were audio-taped, transcribed, and then translated by two bilingual researchers with a background in Korean and American culture. Three main themes of family spirituality were identified: (1) family togetherness, (2) family interdependence, and (3) family coping. Also, participants reported that family spirituality strengthened family health by fostering family commitment, improving emotional well-being, developing new healthy behaviors, and providing healing experiences. This finding implies that healthcare providers need to assess family spiritual issues of elderly couples to maximize their strengths for coping with health problems. As our society becomes more culturally diverse, healthcare providers should seek to understand family spirituality from different cultural perspectives to develop a more holistic approach to care.

Family Issues

Science.gov (United States)

... Some have two parents, while others have a single parent. Sometimes there is no parent and grandparents raise grandchildren. Some children live in foster families, adoptive families, or in stepfamilies. Families are much ...

A Perfect Fit: Connecting Family Therapy Skills to Family Business Needs

Science.gov (United States)

Cole, Patricia M.; Johnson, Kit

2012-01-01

The purpose of this article is to encourage family therapists to become more interested in family business practice. It does so in three ways: (a) highlighting the number of therapists already involved in family business issues; (b) showing the parallels between family business and family therapy by applying family business research findings to…

Familial risks of glomerulonephritis - a nationwide family study in Sweden.

Science.gov (United States)

Akrawi, Delshad Saleh; Li, Xinjun; Sundquist, Jan; Fjellstedt, Erik; Sundquist, Kristina; Zöller, Bengt

2016-08-01

Familial risks of glomerulonephritis (acute, chronic and unspecified glomerulonephritis) have not been studied. This study aims to determine the familial risks of glomerulonephritis. Individuals born from1932 onwards diagnosed with glomerulonephritis (acute [n = 7011], chronic [n = 10,242] and unspecified glomerulonephritis [n = 5762]) were included. The familial risk (Standardized incidence ratio = SIR) was calculated for individuals whose parents/full-siblings were diagnosed with glomerulonephritis compared to those whose parents/full-siblings were not. The procedure was repeated for spouses. Familial concordant risk (same disease in proband and exposed relative) and discordant risk (different disease in proband and exposed relative) of glomerulonephritis were determined. Familial concordant risks (parents/full-sibling history) were: SIR = 3.57 (95% confidence interval, 2.77-4.53) for acute glomerulonephritis, SIR = 3.84 (3.37-4.36) for chronic glomerulonephritis and SIR = 3.75 (2.85-4.83) for unspecified glomerulonephritis. High familial risks were observed if two or more relatives were affected; the SIR was 209.83 (150.51-284.87) in individuals with at least one affected parent as well as one full-sibling. The spouse risk was only moderately increased (SIR = 1.53, 1.33-1.75). Family history of glomerulonephritis is a strong predictor for glomerulonephritis, and is a potentially useful tool in clinical risk assessment. Our data emphasize the contribution of familial factors to the glomerulonephritis burden in the community. Key Messages The familial risks (full-sibling/parent history) of glomerulonephritis (acute, chronic and unspecified glomerulonephritis) have not been determined previously. The familial risks of glomerulonephritis were increased among individuals with family history of acute, chronic or unspecified glomerulonephritis. The familial risks of glomerulonephritis were slightly increased among spouses indicating a

Family Arguments

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... Spread the Word Shop AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care ... Life Listen Español Text Size Email Print Share Family Arguments Page Content Article Body We seem to ...

Family Disruptions

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... Spread the Word Shop AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care ... Life Listen Español Text Size Email Print Share Family Disruptions Page Content Article Body No matter how ...

Family ties and economic stability concerns of migrant labour families in Jordan.

Science.gov (United States)

Kamiar, M S; Ismail, H F

1991-12-01

74 labor migrant families from various socioeconomic classes in Amman, Jordan were interviewed to examine changes in relationships among family members, extended family, and neighbors and their concerns about economic stability in the host country, Jordan, and the world market. Another purpose was to determine how current migration policies of the Arab oil-producing countries which prohibit labor migrants from bringing their families to the host country affect labor migration among families. The families consisted of either those who did or did not accompany the labor migrant. Overall labor migration affected unaccompanied families more than accompanied families, e.g., only 19% of the unaccompanied families reported increased family unity compared with 56% of accompanied families. Problems within unaccompanied families increased in 43% of the cases but in only 6% of the accompanied families. Many of these problems resulted in children dropping out of school which reflected the control fathers had within the family, separation, or divorce. Yet labor migration reduced family ties with extended family members and neighbors almost equally for both groups. Accompanied families were not as concerned about economic stability in Jordan as unaccompanied families (38% vs. 50%). Perhaps these families tended not to invest remittances received from the labor migrants working in Arab oil-producing countries in Jordan. Both groups were quite concerned about the economic stability in the host countries (66% and 72%, respectively) and the world market (59% and 62%, respectively), however. Since family unity suffers when families do not accompany labor migrants, it is suggested that oil-producing nations that depend on foreign labor should guarantee family unity as a human right.

Family Meals

Science.gov (United States)

... Staying Safe Videos for Educators Search English Español Family Meals KidsHealth / For Parents / Family Meals What's in ... even more important as kids get older. Making Family Meals Happen It can be a big challenge ...

The context of collecting family health history: examining definitions of family and family communication about health among African American women.

Science.gov (United States)

Thompson, Tess; Seo, Joann; Griffith, Julia; Baxter, Melanie; James, Aimee; Kaphingst, Kimberly A

2015-04-01

Public health initiatives encourage the public to discuss and record family health history information, which can inform prevention and screening for a variety of conditions. Most research on family health history discussion and collection, however, has predominantly involved White participants and has not considered lay definitions of family or family communication patterns about health. This qualitative study of 32 African American women-16 with a history of cancer-analyzed participants' definitions of family, family communication about health, and collection of family health history information. Family was defined by biological relatedness, social ties, interactions, and proximity. Several participants noted using different definitions of family for different purposes (e.g., biomedical vs. social). Health discussions took place between and within generations and were influenced by structural relationships (e.g., sister) and characteristics of family members (e.g., trustworthiness). Participants described managing tensions between sharing health information and protecting privacy, especially related to generational differences in sharing information, fear of familial conflict or gossip, and denial (sometimes described as refusal to "own" or "claim" a disease). Few participants reported that anyone in their family kept formal family health history records. Results suggest family health history initiatives should address family tensions and communication patterns that affect discussion and collection of family health history information.

Intra-family messaging with family circles

NARCIS (Netherlands)

Schatorjé, R.J.W.; Markopoulos, P.; Neustaedter, C.; Harrison, S.; Sellen, A.

2013-01-01

This chapter makes the argument that intra-family communication is not an issue of connectivity anytime anywhere, but of providing communication media that are flexible and expressive allowing families to appropriate them and fit their own idiosyncratic ways of communicating with each other. We

Family History

Science.gov (United States)

Your family history includes health information about you and your close relatives. Families have many factors in common, including their genes, ... as heart disease, stroke, and cancer. Having a family member with a disease raises your risk, but ...

Bequeathing Family Continuity.

Science.gov (United States)

Spanier, Graham B.

1989-01-01

Notes that many children who experience abuse, family disruption, or poverty reach adulthood with a strong commitment to family life. Questions whether changes in American families are indicators of pathology, deterioration, and instability; and asks how dysfunctional families transmit commitment to the concept of family to succeeding generations.…

Type Families with Class, Type Classes with Family

DEFF Research Database (Denmark)

Serrano, Alejandro; Hage, Jurriaan; Bahr, Patrick

2015-01-01

Type classes and type families are key ingredients in Haskell programming. Type classes were introduced to deal with ad-hoc polymorphism, although with the introduction of functional dependencies, their use expanded to type-level programming. Type families also allow encoding type-level functions......, now as rewrite rules. This paper looks at the interplay of type classes and type families, and how to deal with shortcomings in both of them. Furthermore, we show how to use families to simulate classes at the type level. However, type families alone are not enough for simulating a central feature...... of type classes: elaboration, that is, generating code from the derivation of a rewriting. We look at ways to solve this problem in current Haskell, and propose an extension to allow elaboration during the rewriting phase....

Hospitalized elders and family caregivers: a typology of family worry.

Science.gov (United States)

Li, Hong

2005-01-01

This qualitative study explored the kinds of worry that family caregivers experience when their older relatives are hospitalized. Little is known about what kinds of worries family caregivers may have in association with the hospitalizations of older relatives. An understanding of the different patterns of family worry may help health care teams intervene more effectively to meet family caregiver's needs by reducing their anxiety. A qualitative descriptive design with Loftland and Loftland (1984) approach for the study of a phenomenon occurring in a social setting was used. A purposeful sample of 10 participants was obtained that included six family caregivers and four nurses. Participants were recruited from two hospitals in the northwest US. Intensive interviews and participant observations were used for data collection, and Loftland and Loftland's (1984) qualitative approach was used for data analysis. Family worry was defined as family caregivers' felt difficulty in fulfilling their roles because of worry. Four categories of family worry were identified as a result of this study: (i) worry about the patient's condition; (ii) worry about the patient's care received from the health care team; (iii) worry about future care for the patient provided by the family caregiver; and (iv) worry about finances. The findings of this pilot study provide nurses with the initial knowledge of the typology of family worry associated with elderly relatives' hospitalizations. The findings of this study may sensitize the nurses to more precisely evaluate family caregivers' worry about their hospitalized elders and provide more effective nursing interventions to improve outcomes of both patients and their family caregivers.

Adoptive Family Adjustment and Its Relation to Perceived Family Environment.

Science.gov (United States)

Martin, Betty; Kelly, Mary Margaret; Towner-Thyrum, Elizabeth

1999-01-01

Interviewed adopted college students regarding perceptions of adoptive family life. Found that overall satisfaction with adoptive status and family life was the strongest predictor of perceived general family environment. Perception of adoptive parents' communication styles predicted different aspects of family environment. Acknowledgment of life…

Understanding Family Caregiver Communication to Provide Family-Centered Cancer Care.

Science.gov (United States)

Wittenberg, Elaine; Buller, Haley; Ferrell, Betty; Koczywas, Marianna; Borneman, Tami

2017-12-01

To describe a family caregiver communication typology and demonstrate identifiable communication challenges among four caregiver types: Manager, Carrier, Partner, and Lone. Case studies based on interviews with oncology family caregivers. Each caregiver type demonstrates unique communication challenges that can be identified. Recognition of a specific caregiver type will help nurses to adapt their own communication to provide tailored support. Family-centered cancer care requires attention to the communication challenges faced by family caregivers. Understanding the challenges among four family caregiver communication types will enable nurses to better address caregiver burden and family conflict. Copyright © 2017 Elsevier Inc. All rights reserved.

Cell Line Derived Multi-Gene Predictor of Pathologic Response to Neoadjuvant Chemotherapy in Breast Cancer: A Validation Study on US Oncology 02-103 Clinical Trial

Directory of Open Access Journals (Sweden)

Shen Kui

2012-11-01

Full Text Available Abstract Background The purpose of this study is to assess the predictive accuracy of a multi-gene predictor of response to docetaxel, 5-fluorouracil, epirubicin and cyclophosphamide combination chemotherapy on gene expression data from patients who received these drugs as neoadjuvant treatment. Methods Tumor samples were obtained from patients with stage II-III breast cancer before starting neoadjuvant chemotherapy with four cycles of 5-fluorouracil/epirubicin/cyclophosphamide (FEC followed by four cycles of docetaxel/capecitabine (TX on US Oncology clinical trial 02-103. Most patients with HER-2-positive cancer also received trastuzumab (H. The chemotherapy predictor (TFEC-MGP was developed from publicly available gene expression data of 42 breast cancer cell-lines with corresponding in vitro chemotherapy sensitivity results for the four chemotherapy drugs. No predictor was developed for treatment with trastuzumab. The predictive performance of TFEC-MGP in distinguishing cases with pathologic complete response from those with residual disease was evaluated for the FEC/TX and FEC/TX plus H group separately. The area under the receiver-operating characteristic curve (AU-ROC was used as the metric of predictive performance. Genomic predictions were performed blinded to clinical outcome. Results The AU-ROC was 0.70 (95% CI: 0.57-0.82 for the FEC/TX group (n=66 and 0.43 (95% CI: 0.20-0.66 for the FEC/TX plus H group (n=25. Among the patients treated with FEC/TX, the AU-ROC was 0.69 (95% CI: 0.52-0.86 for estrogen receptor (ER-negative (n=28 and it was 0.59 (95% CI: 0.36-0.82 for ER-positive cancers (n=37. ER status was not reported for one patient. Conclusions Our results indicate that the cell line derived 291-probeset genomic predictor of response to FEC/TX combination chemotherapy shows good performance in a blinded validation study, particularly in ER-negative patients.

Physical mapping of the Period gene on meiotic chromosomes of South American grasshoppers (Acridomorpha, Orthoptera).

Science.gov (United States)

Souza, T E; Oliveira, D L; Santos, J F; Rieger, T T

2014-12-19

The single-copy gene Period was located in five grasshopper species belonging to the Acridomorpha group through permanent in situ hybridization (PISH). The mapping revealed one copy of this gene in the L1 chromosome pair in Ommexecha virens, Xyleus discoideus angulatus, Tropidacris collaris, Schistocerca pallens, and Stiphra robusta. A possible second copy was mapped on the L2 chromosome pair in S. robusta, which should be confirmed by further studies. Except for the latter case, the chromosomal position of the Period gene was highly conserved among the four families studied. The S. robusta karyotype also differs from the others both in chromosome number and morphology. The position conservation of the single-copy gene Period contrasts with the location diversification of multigene families in these species. The localization of single-copy genes by PISH can provide new insights about the genomic content and chromosomal evolution of grasshoppers and others insects.

Expression of a type B RIFIN in Plasmodium falciparum merozoites and gametes

DEFF Research Database (Denmark)

Mwakalinga, Steven B; Wang, Christian W; Bengtsson, Dominique C

2012-01-01

ABSTRACT: BACKGROUND: The ability of Plasmodium falciparum to undergo antigenic variation, by switching expression among protein variants encoded by multigene families, such as var, rif and stevor, is key to the survival of this parasite in the human host. The RIFIN protein family can be divided...... into A and B types based on the presence or absence of a 25 amino acid motif in the semi-conserved domain. A particular type B RIFIN, PF13_0006, has previously been shown to be strongly transcribed in the asexual and sexual stages of P. falciparum in vitro. METHODS: Antibodies to recombinant PF13_0006 RIFIN...... were used in immunofluorescence and confocal imaging of 3D7 parasites throughout the asexual reproduction and sexual development to examine the expression of PF13_0006. Furthermore, reactivity to recombinant PF13_0006 was measured in plasma samples collected from individuals from both East and West...

The conception of the family in the realm of Lithuanian family policy

Directory of Open Access Journals (Sweden)

VILIJA TARMAGADZĖ

2017-10-01

Full Text Available Th e family, its conceptualization and functioning, as well as family policy are discussed at the personal, community and state level. Th is makes sense because diff erent cultural, historical, ethical, social and other alternations aff ect the assessment and evaluation of these three signifi cant components. Besides family policy is a very important part of public policy in a state, what makes obvious impact on every human life (even those who are living not in a family. Th e aim of this article is to shed light on theconcept of family, family functioning and family policy as three mutually interacting components in a unifi ed narrative. Th e object of study is the concept of family, family functioning and family policy from the perspective of its content. Th e research methods employed include analysis and design of scientifi c literature and documents. Th e article analyzes the defi nition of family, paying particular attention that diff erent authors present various defi nitions of families. Although these defi nitions focus on different aspects of families (e.g. marriage, community, the continuity of the nation, etc., it is shown that in each country the concept of a family is regulated by laws, by which regulations (and other legal documents are prepared. Th e legal concept of a family in Lithuania is still not entirely clear. Th e concept is not defi ned in the Constitution and marriage is not indicated as an obvious attribute of being a family. Meanwhile,the FamilyPolicyConcept(2008 clearly defi nes a family,indicatingthat marriage is necessarily between a manand a woman. Th e recognition of families only by marriage has raised many discussions among politicians, particular public interest groups and private individuals in Lithuania. Th ese discussions became even stronger when the Constitutional Court stated that the FamilyPolicyConcept(2008 contradicts the Constitution of Lithuania. Having in the mind, that the implementation of family

This is My Family

OpenAIRE

Yeğen, Hale Nur; Çetin, Merve

2017-01-01

Me and my family, Families poem, Mother-Father, Brother-Sister, Grandparents, Uncle-Aunt, Cousin, Family, Family handgame, My family tree, Activities (Three In a Family), Digital Games, A family poem, Quiz

Using Information and Communication Technologies for Family Communication and Its Association With Family Well-Being in Hong Kong: FAMILY Project.

Science.gov (United States)

Wang, Man Ping; Chu, Joanna T W; Viswanath, Kasisomayajula; Wan, Alice; Lam, Tai Hing; Chan, Sophia S

2015-08-24

Family communication is central to the family and its functioning. It is a mutual process in which family members create, share, and regulate meaning. Advancement and proliferation of information and communication technologies (ICTs) continues to change methods of family communication. However, little is known about the use of different methods for family communication and the influence on family well-being. We investigated the sociodemographic factors associated with different methods of family communication and how they are associated with perceived family harmony, happiness, and health (3Hs) among Chinese adults in Hong Kong. Data came from a territory-wide probability-based telephone survey using the Family and Health Information Trend survey (FHInTs). Frequency of family communication using different methods (ie, face-to-face, phone, instant messaging [IM], social media sites, and email) were recoded and classified as frequent (always/sometimes) and nonfrequent (seldom/never) use. Family well-being was measured using 3 questions of perceived family harmony, happiness, and health with higher scores indicating better family well-being. Adjusted odds ratios for family communication methods by sociodemographic characteristics and adjusted beta coefficients for family well-being by communication methods were calculated. A total of 1502 adults were surveyed. Face-to-face (94.85%, 1408/1484) was the most frequent means of communication followed by phone (78.08%, 796/1484), IM (53.64%, 796/1484), social media sites (17.60%, 261/1484), and email (13.39%, 198/1484). Younger age was associated with the use of phone, IM, and social media sites for family communication. Higher educational attainment was associated with more frequent use of all modes of communication, whereas higher family income was only significantly associated with more frequent use of IM and email (P=.001). Face-to-face (beta 0.65, 95% CI 0.33-0.97) and phone use (beta 0.20, 95% CI 0.02-0.38) for family

75 FR 55587 - Family-to-Family Health Information Center Program

Science.gov (United States)

2010-09-13

... DEPARTMENT OF HEALTH AND HUMAN SERVICES Health Resources and Services Administration Family-to-Family Health Information Center Program AGENCY: Health Resources and Services Administration, HHS... Vermont Family-to-Family Health Information Center (F2F HIC) grant (H84MC00002) from the Parent to Parent...

Family and Family Change in Ireland: An Overview

Science.gov (United States)

Canavan, John

2012-01-01

In Ireland, historically and in the current era, family has been a central concern for society and the State. This article provides a descriptive overview of family life in Ireland and of major family-related changes over the past 40 years. It presents a general framework of analysis within which these changes can be understood, considers the…

Family Issues

Science.gov (United States)

... es Autismo? Family Issues Home / Living with Autism / Family Issues Stress Siblings A child’s autism diagnosis affects every member of the family in different ways. Parents/caregivers must now place their ... may put stress on their marriage, other children, work, finances, and ...

Parental Stress, Family-Professional Partnerships, and Family Quality of Life: Families of Children with Autism Spectrum Disorder

Science.gov (United States)

Hsiao, Yun-Ju

2013-01-01

The purpose of this study was to investigate the relationship among the quality of life of families that have at least one child with autism spectrum disorder, parental stress level, and partnerships between the family and professionals. Also, parent perceptions of parental stress, family quality of life, and family-professional partnerships were…

The Reconstituted Family

OpenAIRE

Talbot, Yves

1981-01-01

The reconstituted or step-family is becoming more prevalent. The physician who cares for families should be acquainted with the different aspects of such family structure and family functioning. This will enable professionals to better understand and assist their patients, by anticipating the different stresses related to the new family formation, and supporting their adaptation.

Clarifying Work-Family Intervention Processes: The Roles of Work-Family Conflict and Family Supportive Supervisor Behaviors

Science.gov (United States)

Hammer, Leslie B.; Kossek, Ellen E.; Anger, W. Kent; Bodner, Todd; Zimmerman, Kristi L.

2010-01-01

Drawing on a conceptual model integrating research on training, work-family interventions, and social support, we conducted a quasi-experimental field study to assess the impact of a supervisory training and self-monitoring intervention designed to increase supervisors' use of family supportive supervisor behaviors. Pre- and post-intervention surveys were completed, nine months apart, by 239 employees at six intervention (N = 117) and six control (N = 122) grocery store sites. Thirty-nine supervisors in the six intervention sites received the training consisting of one hour of self-paced computer-based training, one hour of face-to-face group training, followed by instructions for behavioral self-monitoring (recording the frequency of supportive behaviors) to support on-the-job transfer. Results demonstrated a disordinal interaction for the effect of training and family-to-work conflict on employee job satisfaction, turnover intentions and physical health. In particular, for these outcomes, positive training effects were observed for employees with high family-to-work conflict, while negative training effects were observed for employees with low family-to-work conflict. These moderation effects were mediated by the interactive effect of training and family-to-work conflict on employee perceptions of family-supportive supervisor behaviors. Implications of our findings for future work-family intervention development and evaluation are discussed. PMID:20853943

Education, Parenting and Family: The Social Geographies of Family Learning

Science.gov (United States)

Wainwright, Emma; Marandet, Elodie

2017-01-01

This paper explores the relationship between education, parenting and family through the prism and particularities of family learning. Family learning is an example of an educational initiative, primarily aimed at parents and linked to wider policy concerns, which can be explored through a mapping of its social geographies; family learning is…

Work Role Characteristics, Family Structure Demands, and Work/Family Conflict.

Science.gov (United States)

Voydanoff, Patricia

1988-01-01

Examined relationships between work role characteristics, family structure demands, and work/family conflict, using data from 757 married men and 270 married women. Found that amount and scheduling of work time, job demands, and presence of children in home were related to work/family conflict. Work role characteristics and family structure…

Community families

DEFF Research Database (Denmark)

Jensen, Lotte Groth; Lou, Stina; Aagaard, Jørgen

2017-01-01

: Qualitative interviews with members of volunteer families. Discussion: The families were motivated by helping a vulnerable person and to engaging in a rewarding relationship. However, the families often doubted their personal judgment and relied on mental health workers to act as safety net. Conclusion......Background: Social interventions targeted at people with severe mental illness (SMI) often include volunteers. Volunteers' perspectives are important for these interventions to work. The present paper investigates the experiences of volunteer families who befriend a person with SMI. Material...

Family losses following truncation selection in populations of half-sib families

Science.gov (United States)

J. H. Roberds; G. Namkoong; H. Kang

1980-01-01

Family losses during truncation selection may be sizable in populations of half-sib families. Substantial losses may occur even in populations containing little or no variation among families. Heavier losses will occur, however, under conditions of high heritability where there is considerable family variation. Standard deviations and therefore variances of family loss...

Parental stress, family quality of life, and family-teacher partnerships: Families of children with autism spectrum disorder.

Science.gov (United States)

Hsiao, Yun-Ju; Higgins, Kyle; Pierce, Tom; Whitby, Peggy J Schaefer; Tandy, Richard D

2017-11-01

Reducing parental stress and improving family quality of Life (FQOL) are continuing concerns for families of children with autism spectrum disorder (ASD). Family-teacher partnerships have been identified as a positive factor to help parents reduce their stress and improve their FQOL. However, the interrelations among parental stress, FQOL, and family-teacher partnerships need to be further examined so as to identify the possible paths to help parents reduce their stress and improve their FQOL. The purpose of this study was to examine the interrelations among these three variables. A total of 236 parents of school children with ASD completed questionnaires, which included three measures: (a) the Beach Center Family Quality of Life Scale, (b) the Parental Stress Scale, and (c) the Beach Center Family-Professional Partnerships Scale. The structural equation modeling was used to analyze the interrelations among these three variables. Perceived parental stress had a direct effect on parental satisfaction concerning FQOL and vice versa. Perceived family-teacher partnerships had a direct effect on FQOL, but did not have a direct effect on parental stress. However, family-teacher partnerships had an indirect effect on parental stress through FQOL. Reducing parental stress could improve FQOL for families of children with ASD and vice versa. Strong family-teacher partnerships could help parents of children with ASD improve their FQOL and indirectly reduce their stress. Copyright © 2017 Elsevier Ltd. All rights reserved.

Family-nurse co-construction of meaning: a central phenomenon of family caring.

Science.gov (United States)

Meiers, Sonja J; Tomlinson, Patricia S

2003-06-01

The purpose of the study was to understand and interpret caring in the family health experience by exploring the interactional phenomenon of family-nurse co-construction of meaning in the paediatric intensive care unit (PICU). A hermeneutic phenomenological method within a framework of existentialism and symbolic interactionism was used in the investigation. The convenience sample for this study was four family-nurse dyads, that is four families of critically ill children (all with positive outcomes) and the four nurses assigned to their care who were participating in a larger study. Data were derived from semi-structured interviews regarding significant interactions throughout the child's illness and subsequent significant interactions of families with other nurses and nurses with other families. Trustworthiness of the study was addressed through the criteria of credibility, dependability, transferability and confirmability. Co-construction of meaning in the family health experience was found to have two dimensions: interdependent and independent. Both families and nurses described being like family as an essential component of the interdependent experience. Independent dimensions for families were journeying through troubled waters of learning the meaning of the illness event and sensing family comfort through the nurse's care. Independent dimensions described by nurses were journeying through troubled waters of learning to care for families and living with another's fear. The family-nurse interaction, the relational connection and the evolution of meanings that families and nurses construct, was affirmed as the major vehicle in the co-construction experience. Family caring is influenced by the existential meaning constructing, process-oriented, interactional nature of the family health experience. Caring in the family health experience is enhanced through actions the nurse performs on behalf of, and with, the family while understanding the family's unique

Family size and intra-family inequalities in education in Ouagadougou

Directory of Open Access Journals (Sweden)

James Lachaud

2014-12-01

Full Text Available Background: While the potential benefits for educational investment of decline in family size are well known, some questions have emerged on the distribution of these benefits. Do all the children in a family benefit equitably from the improved conditions brought about by limiting their number? And what are the consequences of reduction in family size for social inequalities in educational opportunity within the family? Objective: This study aims to analyze the inequalities in education between children within the same family in the context of falling fertility in Ouagadougou, the capital city of Burkina Faso. Methods: Inequalities in school attainment are analyzed, first in regard to family sizes and second in terms of gender, birth order, and the interactions between these two variables. Probit models are estimated and adjusted Wald F statistics with Bonferroni corrections for multiple comparisons are computed. Results: The results show that family households with fewer children exhibit different patterns of investment in children's schooling, with lower inequalities between children by gender and birth order. At the post-primary level, however, the firstborn girls in small families appear to be less likely to be enrolled in school compared with those in large families, and also to be disadvantaged in their schooling compared to other children of small families. Conclusions: Reduced fertility appears to have negative effects on the schooling of the oldest girls and beneficial effects for all other children in the household. To mitigate this disadvantage, measures should be considered to reconcile domestic work with the new opportunities emerging from expanding school systems and smaller family sizes.

Effect of family-oriented interviews on family function of young ...

African Journals Online (AJOL)

The outcome of a young person's future is affected by the support received from the family. Support that is received is related to the quality of family functioning of the young person. Family-oriented interview assesses the family of a patient who presents for consultation, through the patient. It diagnoses relationship issues in ...

Family profiles in eating disorders: family functioning and psychopathology

Directory of Open Access Journals (Sweden)

Cerniglia L

2017-10-01

Full Text Available Luca Cerniglia,1 Silvia Cimino,2 Mimma Tafà,2 Eleonora Marzilli,2 Giulia Ballarotto,2 Fabrizia Bracaglia2 1Faculty of Psychology, International Telematic University UNINETTUNO, 2Department of Dynamic and Clinical Psychology, University of Rome “La Sapienza”, Rome, Italy Abstract: Research has studied family functioning in families of patients suffering from eating disorders (EDs, particularly investigating the associations between mothers’ and daughters’ psychopathological symptoms, but limited studies have examined whether there are specific maladaptive psychological profiles characterizing the family as a whole when it includes adolescents with anorexia nervosa (AN, bulimia nervosa (BN, and binge eating disorder (BED. Through the collaboration of a network of public and private consultants, we recruited n=181 adolescents diagnosed for EDs (n=61 with AN, n=60 with BN, and n=60 with BEDs and their parents. Mothers, fathers, and youths were assessed through a self-report measure evaluating family functioning, and adolescents completed a self-report questionnaire assessing psychopathological symptoms. Results showed specific family functioning and psychopathological profiles based on adolescents’ diagnosis. Regression analyses also showed that family functioning characterized by rigidity predicted higher psychopathological symptoms. Our study underlines the importance of involving all members of the family in assessment and intervention programs when adolescent offspring suffer from EDs. Keywords: family functioning, eating disorders, adolescents, psychopathological risk

Characterization of genomic variations in SNPs of PE_PGRS genes reveals deletions and insertions in extensively drug resistant (XDR) M. tuberculosis strains from Pakistan

KAUST Repository

Kanji, Akbar

2015-03-01

Background: Mycobacterium tuberculosis (MTB) PE_PGRS genes belong to the PE multi-gene family. Although the function of the members of the PE_PGRS multi-gene family is not yet known, it is hypothesized that the PE_PGRS genes may be associated with genetic variability. Material and methods: Whole genome sequencing analysis was performed on (n= 37) extensively drug resistant (XDR) MTB strains from Pakistan which included Central Asian (n= 23), East African Indian (n= 2), X3 (n= 1), T group (n= 3) and Orphan (n= 8) MTB strains. Results: By analyzing 42 PE_PGRS genes, 111 SNPs were identified, of which 13 were non-synonymous SNPs (nsSNPs). The nsSNPs identified in the PE_PGRS genes were as follows: 6, 9, 10 and 55 present in each of the CAS, EAI, Orphan, T1 and X3 XDR MTB strains studied. Deletions in PE_PGRS genes: 19, 21 and 23 were observed in 7 (35.0%) CAS1 and 3 (37.5%) in Orphan XDR MTB strains, while deletions in the PE_PGRS genes: 49 and 50 were observed in 36 (95.0%) CAS1 and all CAS, CAS2 and Orphan XDR MTB strains. An insertion in PE_PGRS6 gene was observed in all CAS, EAI3 and Orphan, while insertions in the PE_PGRS genes 19 and 33 were observed in 19 (95%) CAS1 and all CAS, CAS2, EAI3 and Orphan XDR MTB strains. Conclusion: Genetic diversity in PE_PGRS genes contributes to antigenic variability and may result in increased immunogenicity of strains. This is the first study identifying variations in nsSNPs, Insertions and Deletions in the PE_PGRS genes of XDR-TB strains from Pakistan. It highlights common genetic variations which may contribute to persistence.

Phylogenetic comparison of F-Box (FBX gene superfamily within the plant kingdom reveals divergent evolutionary histories indicative of genomic drift.

Directory of Open Access Journals (Sweden)

Zhihua Hua

Full Text Available The emergence of multigene families has been hypothesized as a major contributor to the evolution of complex traits and speciation. To help understand how such multigene families arose and diverged during plant evolution, we examined the phylogenetic relationships of F-Box (FBX genes, one of the largest and most polymorphic superfamilies known in the plant kingdom. FBX proteins comprise the target recognition subunit of SCF-type ubiquitin-protein ligases, where they individually recruit specific substrates for ubiquitylation. Through the extensive analysis of 10,811 FBX loci from 18 plant species, ranging from the alga Chlamydomonas reinhardtii to numerous monocots and eudicots, we discovered strikingly diverse evolutionary histories. The number of FBX loci varies widely and appears independent of the growth habit and life cycle of land plants, with a little as 198 predicted for Carica papaya to as many as 1350 predicted for Arabidopsis lyrata. This number differs substantially even among closely related species, with evidence for extensive gains/losses. Despite this extraordinary inter-species variation, one subset of FBX genes was conserved among most species examined. Together with evidence of strong purifying selection and expression, the ligases synthesized from these conserved loci likely direct essential ubiquitylation events. Another subset was much more lineage specific, showed more relaxed purifying selection, and was enriched in loci with little or no evidence of expression, suggesting that they either control more limited, species-specific processes or arose from genomic drift and thus may provide reservoirs for evolutionary innovation. Numerous FBX loci were also predicted to be pseudogenes with their numbers tightly correlated with the total number of FBX genes in each species. Taken together, it appears that the FBX superfamily has independently undergone substantial birth/death in many plant lineages, with its size and rapid

Trends in family tourism

Directory of Open Access Journals (Sweden)

Heike A. Schänzel

2015-03-01

Full Text Available Purpose – Families represent a large and growing market for the tourism industry. Family tourism is driven by the increasing importance placed on promoting family togetherness, keeping family bonds alive and creating family memories. Predictions for the future of family travel are shaped by changes in demography and social structures. With global mobility families are increasingly geographically dispersed and new family markets are emerging. The purpose of this paper is to discuss the trends that shape the understanding of families and family tourism. Design/methodology/approach – This paper examines ten trends that the authors as experts in the field identify of importance and significance for the future of family tourism. Findings – What emerges is that the future of family tourism lies in capturing the increasing heterogeneity, fluidity and mobility of the family market. Originality/value – The paper contributes to the understanding about the changes taking place in family tourism and what it means to the tourism industry in the future.

Families overcoming under stress: implementing family-centered prevention for military families facing wartime deployments and combat operational stress.

Science.gov (United States)

Lester, Patricia; Mogil, Catherine; Saltzman, William; Woodward, Kirsten; Nash, William; Leskin, Gregory; Bursch, Brenda; Green, Sara; Pynoos, Robert; Beardslee, William

2011-01-01

The toll of multiple and prolonged deployments on families has become clearer in recent years as military families have seen an increase in childhood anxiety, parental psychological distress, and marital discord. Families overcoming under stress (FOCUS), a family-centered evidence-informed resiliency training program developed at University of California, Los Angeles and Harvard Medical School, is being implemented at military installations through an initiative from Navy Bureau of Medicine and Surgery. The research foundation for FOCUS includes evidence-based preventive interventions that were adapted to meet the specific needs of military families facing combat operational stress associated with wartime deployments. Using a family narrative approach, FOCUS includes a customized approach utilizing core intervention components, including psychoeducation, emotional regulation skills, goal setting and problem solving skills, traumatic stress reminder management techniques, and family communication skills. The purpose of this study is to describe the development and implementation of FOCUS for military families. A case example is also presented.

Parent Perceptions of Family Social Supports in Families With Children With Epilepsy.

Science.gov (United States)

Decker, Kim A; Miller, Wendy R; Buelow, Janice M

2016-12-01

When a child is diagnosed with epilepsy, not only has the child's life been disrupted but also the family's sense of normalcy. Although there is considerable literature discussing family concerns and social support issues in families with chronically ill children, a major gap lies in the exploration of how the specifics of childhood epilepsy affect parents and family operations. The purpose of this study was to identify psychosocial care needs of parents of children with epilepsy. Utilizing the Family Systems Nursing theory as a framework, this correlation study examined the relationships among social and community support, family needs, family empowerment, and family quality of life in 29 primary caregivers of a child with epilepsy. These families felt highly supported; they had low needs and high perceptions of empowerment. There was a negative association between social supports and the total family needs survey scale and the subscales of financial support, help regarding explaining to others, and professional support. There was no association between family empowerment or quality of life with parental perceptions of social support. In general, as parental perceptions of family needs increased, perceptions of familial social supports decreased. Further research is recommended to investigate varying socioeconomic status effects in families with children with pediatric epilepsy.

The 15-minute family interview: a family health strategy tool

Directory of Open Access Journals (Sweden)

Mariana Cristina Lobato dos Santos Ribeiro Silva

2013-06-01

Full Text Available The 15-minute family interview is a condensed form of the Calgary Family Assessment and Intervention Models (CFAM and CFIM that aims to contribute to the establishment of a therapeutic relationship between nurses and family and to implement interventions to promote health and suffering relief, even during brief interactions. This study investigated the experience of nurses from the Family Health Strategy (FHS who used the 15-minute interview on postpartum home. The qualitative research was conducted in three stages: participants' training program, utilization of the 15-minute family interview by participants, and interviews with nurses. The data were collected through semi-structured interviews with eight nurses. The thematic analysis revealed two main themes: dealing with the challenge of a new practice and evaluating the assignment. This work shows that this tool can be used to deepen relationships between nurses and families in the Family Health Strategy.

A Family Affair : Explaining Co-Working By Family Members

NARCIS (Netherlands)

Ruijter, Esther de; Lippe, Tanja van der; Raub, Werner; Weessie, Jeroen

2008-01-01

This study focuses on co-working by intimate partners and other family members in entrepreneurs’ businesses. We hypothesize that co-working by family is beneficial because it reduces trust problems associated with employment relations. On the other hand, co-working is risky because co-working family

Family literacy

DEFF Research Database (Denmark)

Sehested, Caroline

2012-01-01

I Projekt familielæsning, der er et samarbejde mellem Nationalt Videncenter for Læsning og Hillerød Bibliotek, arbejder vi med at få kontakt til de familier, som biblioteket ellers aldrig ser som brugere og dermed også de børn, der vokser op i familier, for hvem bøger og oplæsningssituationer ikk...... er en selvfølgelig del af barndommen. Det, vi vil undersøge og ønsker at være med til at udvikle hos disse familier, er det, man kan kalde family literacy....

Work-family harmony

OpenAIRE

Adhikari,Pralhad

2018-01-01

The phenomenon of positively thinking about work and organization during the family hours by a worker is called work-family harmony. On the fag opposite of work-family conflict is work-family harmony. The work extends/intrudes into the family life of the worker, but in a positive way. This kind of positive thinking about the organization helps person's subjective well-being grow and his mental health is also nourished.

Families of bitangent planes of space curves and minimal non-fibration families

KAUST Repository

Lubbes, Niels

2014-01-01

. Such families are called minimal non-fibration families. Families of bitangent planes of cone curves correspond to minimal non-fibration families. The main motivation of this paper is to classify minimal non-fibration families. We present algorithms which

Anxiety Disorders and the Family: How families affect psychiatric disorders

OpenAIRE

Hunsley, John

1991-01-01

Family functioning and anxiety disorders, the most prevalent forms of psychiatric disorder, influence one another. The empirical literature on family studies of anxiety disorder (ie, aggregration of disorders within families), on parent-child relationships and anxiety disorders, and on marriage and anxiety disorders is reviewed. Finally, the challenges for patients and their families of post-traumatic stress disorder are discussed.

Families as Partners: Supporting Family Resiliency through Early Intervention

Science.gov (United States)

Frantz, Rebecca; Hansen, Sarah Grace; Squires, Jane; Machalicek, Wendy

2018-01-01

Child development occurs within the context of the child's family, neighborhood, and community environment. Early childhood providers support positive outcomes, not only for the children with whom they directly work with but also for their families. Families of children with developmental delays often experience unique challenges. A family…

Earnings Management and CSR Disclosure. Family vs. Non-Family Firms

Directory of Open Access Journals (Sweden)

Giovanna Gavana

2017-12-01

Full Text Available Building on Institutional theory and Signaling theory, integrated with the socioemotional wealth (SEW approach, we studied the effect of earnings management (EM practices on a firm’s Corporate Social Responsibility (CSR disclosure behavior. In so doing, we analyzed a sample of 226 non-financial, family and non-family listed firms for the period, 2006–2015. Our results suggest that family firms, in instances of downward earnings management, are more prone to diverting attention from these practices by means of CSR disclosure, compared to non-family firms, although the level of family ownership exerts a moderating effect. Moreover, we found that a firm’s visibility, in terms of size, significantly enhances this behavior and that the effect is higher for family firms.

Strengthening Family Practices for Latino Families

Science.gov (United States)

Chartier, Karen G.; Negroni, Lirio K.; Hesselbrock, Michie N.

2010-01-01

This 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- to 12-year-old child and a parent(s) with a substance abuse problem participated in the study. Pre- and post-tests were conducted…

Prenatal family support, postnatal family support and postpartum depression.

Science.gov (United States)

Xie, Ri-Hua; Yang, Jianzhou; Liao, Shunping; Xie, Haiyan; Walker, Mark; Wen, Shi Wu

2010-08-01

Inadequate social support is an important determinant of postpartum depression (PPD). Social support for pregnant women consists of supports from various sources and can be measured at different gestation periods. Differentiating the effects of social support from different sources and measured at different gestation periods may have important implications in the prevention of PPD. In the family centred Chinese culture, family support is likely to be one of the most important components in social support. The aim of this study was to assess the association of prenatal family support and postnatal family support with PPD. A prospective cohort study was conducted between February and September 2007 in Hunan, China. Family support was measured with social support rating scale at 30-32 weeks of gestation (prenatal support) and again at 2 weeks of postpartum visit (postnatal support). PPD was defined as Edinburgh Postnatal Depression Scale (EPDS) score > or =13. A total of 534 pregnant women were included, and among them, 103 (19.3%) scored 13 or more on the EPDS. PPD was 19.4% in the lowest tertile versus 18.4% in the highest quartile (adjusted odds ratio: 1.04, 95% confidence interval 0.60, 1.80) for prenatal support from all family members, and PPD was 39.8% in the lowest tertile versus 9.6% in the highest tertile (adjusted odds ratio: 4.4, 95% confidence interval 2.3, 8.4) for postnatal support from all family members. Among family members, support from husband had the largest impact on the risk of developing PPD. Lack of postnatal family support, especially the support from husband, is an important risk factor of PPD.

The Growth of a Family: A family-oriented approach to pregnancy care

OpenAIRE

Carroll, June C.; Biringer, Anne

1991-01-01

Caring for a family during pregnancy and birth is an ideal opportunity for family physicians to assess family functioning and help the family adjust to the birth of a new child. Stress and support systems can influence the course of pregnancy, including obstetric and perinatal outcomes. A family-centered approach can help patients during this critical stage of family development.

Family quality of life of Chinese families of children with intellectual disabilities.

Science.gov (United States)

Hu, X; Wang, M; Fei, X

2012-01-01

The concepts of quality of life and family quality of life (FQOL) are increasingly being studied in the field of intellectual disabilities (ID) in China as important frameworks for: (1) assessing families' need for supports and services; (2) guiding organisational and service delivery system changes; and (3) evaluating quality family outcomes. The present study focused on exploring the perceptions of Chinese families who have a child with an ID regarding FQOL as well as examining the factor structure of FQOL concept from Chinese families. The Chinese version of the Family Quality of Life Scale was used to survey Chinese families living in the urban and suburban areas of Beijing who have a child with ID. A total of 442 families participated in this study. Confirmatory factor analysis was used to test the factor structure of FQOL. Multivariate analysis was also used to examine group differences among families in terms of family demographic variables. A five-factor structure of the FQOL construct was found in the Chinese sample, suggesting a similar factor structure found from US families in the literature. Different living conditions (e.g. housing and transportation) tended to affect significantly families' satisfaction ratings of their FQOL. It is also found that family income and severity of disability of the child are predictors of families' satisfaction ratings of FQOL. The preliminary findings of this study suggest a cross-cultural factor structure comparability of FQOL between samples in the USA and China. Results call for further examination of the family-centred service and support as a mediator on the interactive relationship between family characteristics, family needs and FQOL outcomes. © 2011 The Authors. Journal of Intellectual Disability Research © 2011 Blackwell Publishing Ltd.

Using Information and Communication Technologies for Family Communication and Its Association With Family Well-Being in Hong Kong: FAMILY Project

OpenAIRE

Wang, Man Ping; Chu, Joanna TW; Viswanath, Kasisomayajula; Wan, Alice; Lam, Tai Hing; Chan, Sophia S

2015-01-01

Background Family communication is central to the family and its functioning. It is a mutual process in which family members create, share, and regulate meaning. Advancement and proliferation of information and communication technologies (ICTs) continues to change methods of family communication. However, little is known about the use of different methods for family communication and the influence on family well-being. Objective We investigated the sociodemographic factors associated with dif...

Factors associated with family-centered involvement in family practice--a cross-sectional multivariate analysis.

Science.gov (United States)

Deutsch, Tobias; Frese, Thomas; Sandholzer, Hagen

2014-01-01

The importance of a family-centered approach in family practice has been emphasized. Knowledge about factors associated with higher family-centered involvement seems beneficial to stimulate its realization. German office-based family physicians completed a questionnaire addressing several aspects of family-centered care. Logistic regression was used to identify associations with the involvement overall and in different domains: routine inquiry and documentation of family-related information, family orientation regarding diagnosis and treatment, family-oriented dialogues, family conferences, and case-related collaboration with marriage and family therapists. We found significant associations between physicians' family-centered involvement and expected patient receptiveness, perceived impact of the family's influence on health, self-perceived psychosocial family-care competences (overall and concerning concepts for family orientation, psychosocial intervention in family conferences, and the communication of the idea of family counseling), advanced training in psychosocial primary care (PPC), personal acquaintance with family therapists (regarding case-related collaboration), and rural office environment. Increased emphasis on the family's influence on health in medical education and training, the provision of concepts for a family-centered perspective, and versatile skills for psychosocial intervention and inquiry of patient preferences, as well as the strengthening of networking between family physicians and family therapists, might promote the family-centered approach in family practice.

Family-focused interventions and resources for veterans and their families.

Science.gov (United States)

Sherman, Michelle D; Larsen, Jessica L

2018-05-01

Accelerated by the decreasing military presence in Iraq and Afghanistan, many military members are currently transitioning out of active duty into civilian life. Many of these new veterans have recently experienced combat deployment(s), and some are struggling with the aftermath of combat exposure, separation from family, and reintegration stressors. These challenges often follow these military families as they enter the civilian world, a time with its own major life changes vocationally, socially, and interpersonally. Although numerous resources have been developed to assist service members during their transition to the civilian world, relatively fewer exist for partners, children, and broader family systems. Family psychoeducation is a nonpathologizing, strengths-focused model of care that has documented benefits in the arena of mental illness. This article describes some manualized family psychoeducational programs and online and phone-based resources that may be useful to veteran families during this time of change. The programs and resources described herein are all available for free, primarily online. Because of a wide variety of barriers and limitations for family based care in the Veterans Affairs health care system, veteran families are and will continue to seek mental health care in public sector settings. Community providers can enhance their military culture competence by familiarizing themselves with these resources and drawing upon them in working with transitioning military families. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

Family resources for families of children with cerebral palsy in Jordan: psychometric properties of the Arabic-family resources scale.

Science.gov (United States)

Almasri, N A; Saleh, M; Dunst, C J

2014-05-01

Resource-based, family-centred practices are associated with better health, emotional, and social well-being of children with disabilities. The adequacy of resources available for families of children with disabilities in Middle Eastern countries has not been described adequately in part because of lack of measures that are culturally adapted to be used in Arabic countries. Therefore, this study aims to (1) to evaluate the psychometric properties of the Arabic-Family Resource Scale (A-FRS) on a sample of families of children cerebral palsy (CP); (2) examine the adequacy of family resources as perceived by parents of children with CP in Jordan; and (3) examine the influence of child and family demographic variables on how parents report resources available to their families. A cross-section design was applied. One-hundred fifteen parents of children with CP with mean age 4.6 years (SD = 4.4) and their parents participated in the study. Research assistants interviewed the participants to complete the A-FRS, and family and child demographic questionnaire, and determined the Gross Motor Function Classification System level of children. The principal axis factoring of the A-FRS yielded a six-factor solution that accounted for 67.39% of the variance and that is different than the factor structure reported by the developers of the FRS. Cronbach’s coefficient alpha of the total score of family resources was 0.86 indicating a good internal consistency and the test–retest reliability for the total scale score was r = 0.92 (P = 0.000) indicating excellent test–retest reliability. Child health and family income were significantly associated with the total score of the A-FRS. The A-FRS is a valid and reliable measure of family resources for Jordanian families of children with CP. Service providers are encouraged to use A-FRS with families to plan resource-based interventions in which family resources are mobilized to meet family needs.

Tropomodulins and tropomyosins - organizers of cellular microcompartments.

Science.gov (United States)

Fath, Thomas

2013-02-01

Eukaryotic cells show a remarkable compartmentalization into compartments such as the cell nucleus, the Golgi apparatus, the endoplasmic reticulum, and endosomes. However, organelle structures are not the only means by which specialized compartments are formed. Recent research shows a critical role for diverse actin filament populations in defining functional compartments, here referred to as microcompartments, in a wide range of cells. These microcompartments are involved in regulating fundamental cellular functions including cell motility, plasma membrane organization, and cellular morphogenesis. In this overview, the importance of two multigene families of actin-associated proteins, tropomodulins and tropomyosins, their interactions with each other, and a large number of other proteins will be discussed in the context of generating specialized actin-based microcompartments.

Children's Self-Concepts as Related to Family Structure and Family Concept.

Science.gov (United States)

Parish, Joycelyn G.; Parish, Thomas S.

1983-01-01

Surveyed 426 children from intact, divorced, and reconstituted families, who responded to the Personal Attribute Inventory for Children to evaluate their families and themselves. Results showed a significant association between children's self-concepts and both their family structure and family concepts. (JAC)

Family Therapy for the "Truncated" Nuclear Family.

Science.gov (United States)

Zuk, Gerald H.

1980-01-01

The truncated nuclear family consists of a two-generation group in which conflict has produced a polarization of values. The single-parent family is at special risk. Go-between process enables the therapist to depolarize sharply conflicted values and reduce pathogenic relating. (Author)

Families in Transition .

Science.gov (United States)

Bundy, Michael L., Ed.; Gumaer, James, Ed.

1984-01-01

Focuses on disrupted families and the role of the school counselor in helping children adjust. Describes characteristics of healthy families, and discusses the transition to the blended family, effects of divorce groups on children's classroom behavior, counseling children in stepfamilies, single-parent families, and parenting strengths of single…

Family boundary characteristics, work-family conflict and life satisfaction: A moderated mediation model.

Science.gov (United States)

Qiu, Lin; Fan, Jinyan

2015-10-01

Although work-family border and boundary theory suggest individuals' boundary characteristics influence their work-family relationship, it is largely unknown how boundary flexibility and permeability mutually influence work-family conflict and subsequent employee outcomes. Moreover, the existing work-family conflict research has been mainly conducted in the United States and other Western countries. To address these gaps in the work-family literature, the present study examines a moderated mediation model regarding how family boundary characteristics may influence individuals' work-family conflict and life satisfaction with a sample of 278 Chinese full-time employees. Results showed that employees' family flexibility negatively related to their perceived work interference with family (WIF) and family interference with work (FIW), and both these two relationships were augmented by individuals' family permeability. In addition, WIF mediated the relationship between family flexibility and life satisfaction; the indirect effect of family flexibility on life satisfaction via WIF was stronger for individuals with higher family permeability. The theoretical and managerial implications of these findings are discussed. © 2014 International Union of Psychological Science.

Do family CEOs impact firm value? An empirical analysis of Indian family firms

Directory of Open Access Journals (Sweden)

Lakshmi Kalyanaraman

2015-01-01

Full Text Available We study the association between family CEO and firm value on a sample of 288 family firms during the 6-year period, from 2009 to 2014. The sample is drawn from domestic private companies belonging to non-financial services sector included in the NSE CNX 500 index. We find that family CEO has no significant association with firm value, when the family is not the majority shareholder. Family shareholding has positive relationship with firm value, but does not moderate the relationship of family CEO with firm value. We show that family CEO and firm value are negatively related when the family does not hold majority equity stake in the family firm. While family shareholding has no significant relationship with firm value, it has a negative interaction effect on the relationship between family CEO and firm value. The research findings have important implications for family firms as well as the nonfamily investors in the family firms.

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

Science.gov (United States)

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.

Families, Head Injury, and Cognitive-Communicative Impairments: Issues for Family Counseling.

Science.gov (United States)

DePompei, Roberta; Zarski, John J.

1989-01-01

This paper calls for the incorporation of family counseling into rehabilitation programs treating cognitive-communicative disorders in head-injured individuals. The paper describes general family responses that may be anticipated when a family system experiences head injury, functional versus dysfunctional family responses to a crisis, and three…

NASA Family Science Night: Changing perceptions one family at a time

Science.gov (United States)

Mitchell, Sara E.; Drobnes, Emilie; Sol Colina-Trujillo, M.; Noel-Storr, Jacob

2008-12-01

Parents and families have the greatest influence on children's attitudes towards education and career choices. If students' attitudes towards science, particularly the physical sciences, are not influenced positively by parental/familial attitudes, efforts to improve the quality of content and teaching of these subjects in school may be futile. Research shows that parental involvement increases student achievement outcomes, and family-oriented programs have a direct impact on student performance. Based on this premise, the NASA Goddard Space Flight Center started a series of Family Science Nights for middle school students and their families. The program provides a non-threatening venue for families to explore the importance of science and technology in our daily lives by engaging in learning activities that change their perception and understanding of science - making it more practical and approachable for participants of all ages. Family Science Night strives to change the way that students and their families participate in science, within the program and beyond.

Work-Family Conflict, Family-Supportive Supervisor Behaviors (FSSB), and Sleep Outcomes

Science.gov (United States)

Crain, Tori L.; Hammer, Leslie B.; Bodner, Todd; Kossek, Ellen Ernst; Moen, Phyllis; Lilienthal, Richard; Buxton, Orfeu M.

2014-01-01

Although critical to health and well-being, relatively little research has been conducted in the organizational literature on linkages between the work-family interface and sleep. Drawing on Conservation of Resources theory, we use a sample of 623 information technology workers to examine the relationships between work-family conflict, family-supportive supervisor behaviors (FSSB), and sleep quality and quantity. Validated wrist actigraphy methods were used to collect objective sleep quality and quantity data over a one week period of time, and survey methods were used to collect information on self-reported work-family conflict, FSSB, and sleep quality and quantity. Results demonstrated that the combination of predictors (i.e., work-to-family conflict, family-to-work conflict, FSSB) was significantly related to both objective and self-report measures of sleep quantity and quality. Future research should further examine the work-family interface to sleep link and make use of interventions targeting the work-family interface as a means for improving sleep health. PMID:24730425

South African Families Raising Children with Autism Spectrum Disorders: Relationship between Family Routines, Cognitive Appraisal and Family Quality of Life

Science.gov (United States)

Schlebusch, L.; Samuels, A. E.; Dada, S.

2016-01-01

Background: The purpose of this study was to investigate the relationship between family routines, cognitive appraisal of the impact of autism spectrum disorders (ASD) on the family and family quality of life (FQOL) in families raising children with ASD in South Africa. Methods: A sample of 180 families of young children with ASD who were…

A structural model of family empowerment for families of children with special needs.

Science.gov (United States)

Han, Kuem Sun; Yang, Yunkyung; Hong, Yeong Seon

2018-03-01

To explain and predict family empowerment in families of children with special needs. Family empowerment of families of children with special needs can be explained using the Double ABCX model. Although constant stressors such as parenting stress and family demands can have negative effects on family empowerment, family resources and parenting efficacy can mediate the negative effect through effective coping strategies. A cross-sectional research design was employed. A survey was conducted with 240 parents of children with special needs. Upon exclusion of four responses deemed inadequate to the statistics process, 236 responses were selected for the analysis. Based on the items used in the previous research, we used the scale of family demands 38, the scale of parenting stress 24, the scale of parenting efficacy 37, the scale of pattern of organisation 30, the scale of communication process 16 and the scale of family empowerment 32. In families of children with special needs, parenting stress had a negative effect on parenting efficacy and family resources, namely, pattern of organisation and communication process. Family needs had a positive effect on parenting efficacy. Parenting stress and family demands influenced family empowerment through parenting efficacy and family resources (pattern of organisation and communication process), while parenting efficacy contributed to family empowerment. This study empirically analysed the usefulness of the Double ABCX model in predicting family empowerment. Family resource factors (organisation pattern and communication process) and perception or judgement factors (such as parenting efficacy) were found to mediate the negative impact of various stressors experienced by families of children with special needs. The study findings suggest that clinical practice and management should focus on providing efficient intervention methods to lower stress in families of children with special needs. Reinforcing factors contributing to

Familial Idiopathic Cranial Neuropathy in a Chinese Family.

Science.gov (United States)

Zhang, Li; Liang, Jianfeng; Yu, Yanbing

Cranial neuropathy is usually idiopathic and familial cases are uncommon. We describe a family with 5 members with cranial neuropathy over 3 generations. All affected patients were women, indicating an X-linked dominant or an autosomal dominant mode of inheritance. Our cases and a review of the literature suggest that familial idiopathic cranial neuropathy is a rare condition which may be related to autosomal dominant vascular disorders (e.g. vascular tortuosity, sclerosis, elongation or extension), small posterior cranial fossas, anatomical variations of the posterior circulation, hypersensitivity of cranial nerves and other abnormalities. Moreover, microvascular decompression is the treatment of choice because vascular compression is the main factor in the pathogenesis. To the best of our knowledge, this is the first report of familial cranial neuropathy in China.

The Role of Family Control on Financial Performance of Family Business in Gebze

Directory of Open Access Journals (Sweden)

Huriye Sabancı Özer

2012-01-01

Full Text Available This paper analysis the role of family control on financial performance of family business by using the key financial data of family businesses of 16 firm registred to Gebze Chamber of Commerce. In this paper, financial performance of a family business is measured by using Return on Assets, Return on Sales and Total Debt/Total Assets ratios. The family member CEO is more successful as far as ROA ratios concerned, but is less successful as far as TD/TA ratios concerned, in comparison to non family member CEO. In other words, the non family member CEO is more successful as far as TD/TA ratios concerned, but is less successful as far as ROA ratios concerned, in comparison to family member CEO. Additionally, as far as ROS ratios concerned, there is no significant difference between family member CEO and non family member CEO. Overall, the results are consistent with the hypotheses that there is difference between ROA of family member CEO and non family member CEO, and there is difference between TD/TA of family member CEO and non family member CEO.

Families of bitangent planes of space curves and minimal non-fibration families

KAUST Repository

Lubbes, Niels

2014-01-01

A cone curve is a reduced sextic space curve which lies on a quadric cone and does not pass through the vertex. We classify families of bitangent planes of cone curves. The methods we apply can be used for any space curve with ADE singularities, though in this paper we concentrate on cone curves. An embedded complex projective surface which is adjoint to a degree one weak Del Pezzo surface contains families of minimal degree rational curves, which cannot be defined by the fibers of a map. Such families are called minimal non-fibration families. Families of bitangent planes of cone curves correspond to minimal non-fibration families. The main motivation of this paper is to classify minimal non-fibration families. We present algorithms which compute all bitangent families of a given cone curve and their geometric genus. We consider cone curves to be equivalent if they have the same singularity configuration. For each equivalence class of cone curves we determine the possible number of bitangent families and the number of rational bitangent families. Finally we compute an example of a minimal non-fibration family on an embedded weak degree one Del Pezzo surface.

work-family-conflict and family-work-conflict as correlates of job

African Journals Online (AJOL)

User

The above nature of conflicts that employees often try to strike role balance is tagged in organizational ... Therefore, women that assume multiple roles result in work-family conflict because time and energy are ... traditional single-income family to a double-income family. The new family structure calls for multiple roles to.

Pure γ-families

International Nuclear Information System (INIS)

Dunaevskii, A.M.

1977-01-01

The subject of this work are pure gamma families consisting of the gamma quanta produced in the early stages of cosmic cascades. The criteria of selecting these families from the all measured families are presented. The characteristics of these families are given and some conclusions about the mechanism of the nuclear-electromagnetic cascades are extracted. (S.B.)

Rapid functional and sequence differentiation of a tandemly repeated species-specific multigene family in Drosophila

DEFF Research Database (Denmark)

Clifton, Bryan D.; Sanz, Pablo Librado; Yeh, Shu-Dan

2017-01-01

Gene clusters of recently duplicated genes are hotbeds for evolutionary change. However, our understanding of how mutational mechanisms and evolutionary forces shape the structural and functional evolution of these clusters is hindered by the high sequence identity among the copies, which typical...

Family demands, social support and caregiver burden in Taiwanese family caregivers living with mental illness: the role of family caregiver gender.

Science.gov (United States)

Hsiao, Chiu-Yueh

2010-12-01

The purpose of this study was to assess gender effects on family demands, social support and caregiver burden as well as to examine contributing factors of caregiver burden in caring for family members with mental illness. Providing continued care and support for people with mental illness is demanding and challenging. Findings of earlier caregiving studies on the role of caregiver gender in response to caregiver burden and caregiving-related factors have been inconsistent. Little research has been undertaken to examine gender effect on family demands, social support and caregiver burden in Taiwanese family caregivers of individuals with mental illness. Cross-sectional, descriptive correlation design. Data from 43 families, including at least one male and female family caregiver in each family, were analysed using descriptive statistics, principal component analysis and mixed linear modelling. Demographic data, Perceived Stress Scale, Perceived Social Support and Caregiver Burden Scale-Brief were used to collect data. Female family caregivers perceived less social support and experienced higher degrees of caregiver burden compared with male family caregivers. In contrast, no significant gender effect was associated with family demands. Family caregivers with greater family demands and less social support experienced higher degrees of caregiver burden. The results reinforced those of previously published studies that caregiver burden is highly prevalent among female family caregivers. Caregiver gender appears to be highly valuable for explaining family demands, social support and caregiver burden. Health care professionals should continue to collaborate with family caregivers to assess potential gender effects on available support and design gender-specific interventions to alleviate caregiver burden. © 2010 Blackwell Publishing Ltd.

Factors of caregiver burden and family functioning among Taiwanese family caregivers living with schizophrenia.

Science.gov (United States)

Hsiao, Chiu-Yueh; Tsai, Yun-Fang

2015-06-01

To assess the degree of caregiver burden and family functioning among Taiwanese primary family caregivers of people with schizophrenia and to test its association with demographic characteristics, family demands, sense of coherence and family hardiness. Family caregiving is a great concern in mental illness. Yet, the correlates of caregiver burden and family functioning in primary family caregivers of individuals with schizophrenia still remain unclear. A cross-sectional descriptive study. A convenience sample of 137 primary family caregivers was recruited from two psychiatric outpatient clinics in Taiwan. Measures included a demographic information sheet and the Chinese versions of the Family Stressors Index, Family Strains Index, 13-item Sense of Coherence Scale, 18-item Caregiver Burden Scale, Family Hardiness Index and Family Adaptability, Partnership, Growth, Affection, and Resolve Index. Data analysis included descriptive statistics, Pearson's product-moment correlation coefficients, t-test, one-way analysis of variance and a stepwise multiple linear regression. Female caregivers, additional dependent relatives, increased family demands and decreased sense of coherence significantly increased caregiver burden, whereas siblings as caregivers reported lower degrees of burden than parental caregivers. Family caregivers with lower family demands, increased family hardiness and higher educational level had significantly enhanced family functioning. Sense of coherence was significantly correlated with family hardiness. Our findings highlighted the importance of sense of coherence and family hardiness in individual and family adaptation. Special attention needs to focus on therapeutic interventions that enhance sense of coherence and family hardiness, thereby improving the perception of burden of care and family functioning. Given the nature of family caregiving in schizophrenia, understanding of correlates of caregiver burden and family functioning would help

Family Relationships and Psychosocial Dysfunction Among Family Caregivers of Patients With Advanced Cancer.

Science.gov (United States)

Nissen, Kathrine G; Trevino, Kelly; Lange, Theis; Prigerson, Holly G

2016-12-01

Caring for a family member with advanced cancer strains family caregivers. Classification of family types has been shown to identify patients at risk of poor psychosocial function. However, little is known about how family relationships affect caregiver psychosocial function. To investigate family types identified by a cluster analysis and to examine the reproducibility of cluster analyses. We also sought to examine the relationship between family types and caregivers' psychosocial function. Data from 622 caregivers of advanced cancer patients (part of the Coping with Cancer Study) were analyzed using Gaussian Mixture Modeling as the primary method to identify family types based on the Family Relationship Index questionnaire. We then examined the relationship between family type and caregiver quality of life (Medical Outcome Survey Short Form), social support (Interpersonal Support Evaluation List), and perceived caregiver burden (Caregiving Burden Scale). Three family types emerged: low-expressive, detached, and supportive. Analyses of variance with post hoc comparisons showed that caregivers of detached and low-expressive family types experienced lower levels of quality of life and perceived social support in comparison to supportive family types. The study identified supportive, low-expressive, and detached family types among caregivers of advanced cancer patients. The supportive family type was associated with the best outcomes and detached with the worst. These findings indicate that family function is related to psychosocial function of caregivers of advanced cancer patients. Therefore, paying attention to family support and family members' ability to share feelings and manage conflicts may serve as an important tool to improve psychosocial function in families affected by cancer. Copyright © 2016 American Academy of Hospice and Palliative Medicine. All rights reserved.

75 FR 9247 - Single Family Mortgage Insurance Premium, Single Family

Science.gov (United States)

2010-03-01

... DEPARTMENT OF HOUSING AND URBAN DEVELOPMENT [Docket No. FR-5376-N-13] Single Family Mortgage Insurance Premium, Single Family AGENCY: Office of the Chief Information Officer, HUD. ACTION: Notice... is soliciting public comments on the subject proposal. Lenders use the Single Family Premium...

The family and family structure classification redefined for the current times

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Rahul Sharma

2013-01-01

Full Text Available The family is a basic unit of study in many medical and social science disciplines. Definitions of family have varied from country to country, and also within country. Because of this and the changing realities of the current times, there is a felt need for redefining the family and the common family structure types, for the purpose of study of the family as a factor in health and other variables of interest. A redefinition of a ′′family′′ has been proposed and various nuances of the definition are also discussed in detail. A classification scheme for the various types of family has also been put forward. A few exceptional case scenarios have been envisaged and their classification as per the new scheme is discussed, in a bid to clarify the classification scheme further. The proposed scheme should prove to be of use across various countries and cultures, for broadly classifying the family structure. The unique scenarios of particular cultures can be taken into account by defining region or culture-specific subtypes of the overall types of family structure.

Families living with parental mental illness and their experiences of family interventions.

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Afzelius, M; Plantin, L; Östman, M

2018-03-01

WHAT IS KNOWN ON THE SUBJECT?: Coping with parental mental illness in families can be challenging for both children and parents. Providing evidence-based family interventions to families where a parent has a mental illness can enhance the relationships in the family. Although psychiatric research has shown that evidence-based family interventions may improve the communication and understanding of parental mental illness, there is a lack in this area of research from an everyday clinical context. WHAT DOES THIS PAPER ADD TO EXISTING KNOWLEDGE?: Our study reinforces the fact that parents with mental illnesses are searching for support from psychiatric services in order to talk to their children about their illness. The finding that under-age children comply when they are told by their parents to join an intervention in psychiatric services supporting the family is something not observed earlier in research. This study once more illuminates the fact that partners of a person with parental mental illness are seldom, in an obvious way, included in family support interventions. WHAT ARE THE IMPLICATIONS FOR PRACTICE?: Psychiatric services, and especially mental health nurses, have an important task in providing families with parental mental illness with support concerning communication with their children and in including the "healthy" partner in family support interventions. Introduction Although research has shown that evidence-based family interventions in research settings improve the communication and understanding of parental mental illness, there is a lack of knowledge about interventions in an everyday clinical context. Aim This study explores how families with parental mental illness experience family interventions in a natural clinical context in psychiatric services. Method Five families with children aged 10-12 were recruited from psychiatric services in southern Sweden and interviewed in a manner inspired by naturalistic inquiry and content analysis. Both

Work, family, and gender: elements for a theory of work-family balance.

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Cantera, Leonor M; Cubells, Ma Eugenia; Martínez, Luz Ma; Blanch, Josep M

2009-11-01

Over last century, work was not only a means of economic survival, but also a very strong factor of psychological structuring and of organization of personal, family, and everyday life. The new world of work provides new challenges to the balance of work and family life. A questionnaire was administered to a sample of 453 people with the aim of analyzing the relation between variables such as family burdens and domestic responsibilities, and the appraisal of work and family, values involved in work-family balance. The results of this study show that, in the present economic and cultural context, assuming family burdens and domestic responsibilities increases the positive appraisal of work and family, both in men and women. This has theoretical and practical implications concerning the challenge of work-family balance.

Working mothers: Family-work conflict, job performance and family/work variables

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Cynthia J Patel

2006-10-01

Full Text Available The present study examined the relationship between family-work conflict, job performance and selected work and family characteristics in a sample of working mothers employed at a large retail organization. The hypothesis of a negative relationship between family-work conflict and job performance was rejected. Married women reported significantly higher family-work conflict than unmarried women, while women in the highest work category gained the highest job performance rating. More than half the sample indicated that paid work was more important than their housework and reported that their working had a positive impact on their families. The findings are discussed in relation to the changing work and family identities of non-career women.

Family Relationships and its Influence on Family Wine Firms in the Czech Republic

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Anastasia Murinova

2017-11-01

Full Text Available Purpose of the article: There are many a studies by universities and various companies regarding the phenomenon of family business. However, a clear interpretation of the family business does not exist. Thus, the purpose of this paper is clarify the question of family relationships existing within the family business in the Czech Republic. Methodology/methods: As the wine family business is a bright representative of the oldest and traditional economic activities, it was decided to analyze the family relationships of 108 representatives of the wine family firms in the Czech Republic within the secondary research. For primary research the case study method was used. Representatives of wine family firms were interviewed to confirm the obtained results and add the details. Scientific aim: The aim of scientific research is to improve the understanding of family firm’s base from the perspective of family relationships. Findings: Coming out of the definition by Arquer (1979 and taking the applicable Civil Code of the Czech Republic into account, the author has created a definition regarding the family business to be transferred to the next generation. Accordingly, there were identified four dominant groups of family relationships within the wine trading family business. A representative interviewed among others has confirmed the existence of traditional wine trading family business saying that it is not only a mere marketing tool for the customer acquisition. Besides that, case studies make clear beyond the veil the influence of family relationships on the firm’s performance. Conclusions: This study has contributed to the theoretical body of family business research providing an important first step to gaining insights into the understanding of family relationships of the family business influencing its effective functioning.

Human Service Employees Coping with Job Stress, Family Stress and Work-Family Conflict.

Science.gov (United States)

Carbone, Dominic J.

The intersection of work and family life has always been a popular topic of discussion among family theorists. This study examined human service employees in direct service positions coping with work stress, family stress, and work-family conflict. The effects of work stress, family stress and work-family conflict on depression were examined.…

Family Care Map: Sustaining family-centered care in Polytrauma Rehabilitation Centers

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Ford, James H.; Wise, Meg; Krahn, Dean; Oliver, Karen Anderson; Hall, Carmen; Sayer, Nina

2015-01-01

The study assessed sustainability of the Family Care Map, a family-centered approach to providing care for Veterans with polytrauma-related injuries, in four Department of Veterans Affairs Polytrauma Rehabilitation Centers. We applied a mixed-methods approach. Staff surveys used standardized measures of sustainability, commitment to change, information, and participation during implementation. Qualitative inquiry assessed Family Care Map implementation and facilitators and barriers to sustainability. Staff sustainability perceptions had a significant positive correlation with affective commitment to change, participation, and information received about the change process. Family Care Map integration into standard practices and use of its concepts with patients and families related to staff perceptions about sustainability. The degree of use and integration of the Family Care Map in traumatic brain injury/polytrauma care varied among the Polytrauma Rehabilitation Centers. Some successful sustainability strategies included integration into daily workflow and organizational culture. Examples of sustainability barriers included staff awareness and use and outdated information. Some practices, such as measuring and documenting the use of the Family Care Map in treatment plans, may not routinely occur. The focus on family-centered care will require further evaluation of organization-, staff-, and innovation-level attributes that influence sustainability of changes designed to improve family-centered care. PMID:25671632

THE INFLUENCE OF FAMILY RELATIONS ON DECISION MAKING IN FAMILY BUSINESSES

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Aleksandra Stoilkovska

2013-03-01

Full Text Available The peculiarity and uniqueness of family businesses set them apart from other businesses in many things. Natural need of man to survive in these harsh circumstances forces him to constantly seek new sources of funding or simply tries to improve the existing. Secure existence is difficult to ensure.The successful family business provides many benefits: reliable operation, to be your own boss, flexible working hours, family members are taken care of, to become successful with your own strengths. Also this kind of business brings a range of difficulties that have to be overcomed.Apart from the daily struggle for enterprise development in the complex conditions of tough competition and rapid changes in the environment, family businesses face problems of internal character. Namely, the parents are thorn between the family relations, the love towards their children and the consistence in the decision making processes. Although this is a modern and very present theme however owners of family businesses rarely dare to speak publicly on the subject.This paper presents an action research conducted on a sample of 26 family businesses in FYROM. This research study is primarily exploratory in nature, and the research instruments include survey through questionnaires with family member and employees that are not family members.

Underlying mathematics in diversification of human olfactory receptors in different loci.

Science.gov (United States)

Hassan, Sk Sarif; Choudhury, Pabitra Pal; Goswami, Arunava

2013-12-01

As per conservative estimate, approximately 51-105 Olfactory Receptors (ORs) loci are present in human genome occurring in clusters. These clusters are apparently unevenly spread as mosaics over 21 pairs of human chromosomes. Olfactory Receptor (OR) gene families which are thought to have expanded for the need to provide recognition capability for a huge number of pure and complex odorants, form the largest known multigene family in the human genome. Recent studies have shown that 388 full length and 414 OR pseudo-genes are present in these OR genomic clusters. In this paper, the authors report a classification method for all human ORs based on their sequential quantitative information like presence of poly strings of nucleotides bases, long range correlation and so on. An L-System generated sequence has been taken as an input into a star-model of specific subfamily members and resultant sequence has been mapped to a specific OR based on the classification scheme using fractal parameters like Hurst exponent and fractal dimensions.

Family-based clusters of cognitive test performance in familial schizophrenia

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Partonen Timo

2004-07-01

Full Text Available Abstract Background Cognitive traits derived from neuropsychological test data are considered to be potential endophenotypes of schizophrenia. Previously, these traits have been found to form a valid basis for clustering samples of schizophrenia patients into homogeneous subgroups. We set out to identify such clusters, but apart from previous studies, we included both schizophrenia patients and family members into the cluster analysis. The aim of the study was to detect family clusters with similar cognitive test performance. Methods Test scores from 54 randomly selected families comprising at least two siblings with schizophrenia spectrum disorders, and at least two unaffected family members were included in a complete-linkage cluster analysis with interactive data visualization. Results A well-performing, an impaired, and an intermediate family cluster emerged from the analysis. While the neuropsychological test scores differed significantly between the clusters, only minor differences were observed in the clinical variables. Conclusions The visually aided clustering algorithm was successful in identifying family clusters comprising both schizophrenia patients and their relatives. The present classification method may serve as a basis for selecting phenotypically more homogeneous groups of families in subsequent genetic analyses.

Family matters

DEFF Research Database (Denmark)

Kieffer-Kristensen, Rikke; Siersma, Volkert Dirk; Teasdale, Thomas William

2013-01-01

brain injury participated. Family and brain injury characteristics were reported by the ill and healthy parents. Children self-reported post-traumatic stress symptoms (PSS) using the Child Impact of Events revised (CRIES). Emotional and behavioural problems among the children were also identified...... by the parents using the Achenbach’s Child Behaviour Checklist (CBCL). RESULTS: The family stress variables relating to the healthy spouse in all six comparisons were significant (p... scores for the children. For the adjusted associations, we again found the family stress variables in the healthy spouse to be related to the risk of emotional and behavioral problems in the children. CONCLUSIONS: The present results suggest that in ABI families, the children’s emotional functioning...

Coalitions and family problem solving with preadolescents in referred, at-risk, and comparison families.

Science.gov (United States)

Vuchinich, S; Wood, B; Vuchinich, R

1994-12-01

This study tested the hypothesis that the mother-father coalition, parent-child coalitions, and parental warmth expressed toward the child are associated with family problem solving in families with a preadolescent child referred for treatment of behavior problems (n = 30), families with a child at-risk for conduct disorder (n = 68), and a sample of comparison families (n = 90). Referred and at-risk families displayed less effective problem solving. A regression analysis, which controlled for gender of the child, family structure, family income, marital satisfaction, and severity of child problems, showed that strong parental coalitions were linked to low levels of family problem solving in at-risk and referred families. Parent-child coalitions had little apparent impact while parental warmth was highly correlated with better family problem solving. The results may be interpreted as evidence for a tendency for parents in at-risk and referred families to "scapegoat" a preadolescent during family problem-solving sessions. This may undermine progress on family problem solutions and may complicate family-based prevention and treatment programs that use family problem-solving sessions.

Sampling strategies for improving tree accuracy and phylogenetic analyses: a case study in ciliate protists, with notes on the genus Paramecium.

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Yi, Zhenzhen; Strüder-Kypke, Michaela; Hu, Xiaozhong; Lin, Xiaofeng; Song, Weibo

2014-02-01

In order to assess how dataset-selection for multi-gene analyses affects the accuracy of inferred phylogenetic trees in ciliates, we chose five genes and the genus Paramecium, one of the most widely used model protist genera, and compared tree topologies of the single- and multi-gene analyses. Our empirical study shows that: (1) Using multiple genes improves phylogenetic accuracy, even when their one-gene topologies are in conflict with each other. (2) The impact of missing data on phylogenetic accuracy is ambiguous: resolution power and topological similarity, but not number of represented taxa, are the most important criteria of a dataset for inclusion in concatenated analyses. (3) As an example, we tested the three classification models of the genus Paramecium with a multi-gene based approach, and only the monophyly of the subgenus Paramecium is supported. Copyright © 2013 Elsevier Inc. All rights reserved.

Family size, cognitive outcomes, and familial interaction in stable, two-parent families: United States, 1997-2002.

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Sandberg, John; Rafail, Patrick

2014-10-01

Measures of children's time use, particularly with parents and siblings, are used to evaluate three hypotheses in relation to the vocabulary and mathematical skills development: (1) the resource dilution hypothesis, which argues that parental and household resources are diluted in larger families; (2) the confluence hypothesis, which suggests that the intellectual milieu of families is lowered with additional children; and (3) the admixture ("no effect") hypothesis, which suggests that the negative relationship between family size and achievement is an artifact of cross-sectional research resulting from unobserved heterogeneity. Each hypothesis is tested using within-child estimates of change in cognitive scores over time with the addition of new children to families.

Familial gigantism

NARCIS (Netherlands)

W.W. de Herder (Wouter)

2012-01-01

textabstractFamilial GH-secreting tumors are seen in association with three separate hereditary clinical syndromes: multiple endocrine neoplasia type 1, Carney complex, and familial isolated pituitary adenomas.

Family Smoking, Exposure to Secondhand Smoke at Home and Family Unhappiness in Children

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Jian Jiu Chen

2015-11-01

Full Text Available Tobacco use adversely affects many aspects of well-being and is disliked by non-smokers. However, its association with family happiness is unknown. We investigated the associations of family unhappiness with smoking in family members and secondhand smoke (SHS exposure at home in Hong Kong children. In a school-based survey in 2012–2013, 1238 primary school students (mean age 8.5 years, standard deviation 0.9; 42.6% boys reported family smoking, SHS exposure at home and whether their families had any unpleasant experience caused by smoking or SHS in the past 30 days (tobacco-related unpleasant experience, and rated the overall level of happiness in their families (family unhappiness. Multivariable logistic regression was used to study the associations of tobacco-related unpleasant experience and family unhappiness with family smoking and SHS exposure at home. Tobacco-related unpleasant experience and family unhappiness were reported by 27.5% and 16.5% of students. Unpleasant experience was more strongly associated with family smoking than SHS exposure at home. Family unhappiness was associated with both family smoking (odds ratio 2.37; 95% confidence interval 1.51–3.71 and SHS exposure at home (1.82; 1.39–2.40. These results suggest a previously neglected possible impact of tobacco use on family happiness.

The role of family institutes in promoting the practice of family therapy.

Science.gov (United States)

Rampage, Cheryl

2014-09-01

Much of the development of family therapy as a discipline was an outcome of the clinical, training, and theory-building activities conducted at family institutes around the United States. Beginning in the 1960s, these institutes were the crucibles in which the concepts and practices of family therapy flourished. The author, a leader at one of the largest family institutes in the United States, discusses the role of family institutes in promoting the practice of family therapy, as well as the challenges of doing so. © 2014 FPI, Inc.

The Context of Collecting Family Health History: Examining Definitions of Family and Family Communication About Health Among African American Women

Science.gov (United States)

THOMPSON, TESS; SEO, JOANN; GRIFFITH, JULIA; BAXTER, MELANIE; JAMES, AIMEE; KAPHINGST, KIMBERLY A.

2015-01-01

Public health initiatives encourage the public to discuss and record family health history (FHH) information, which can inform prevention and screening for a variety of conditions. Most research on FHH discussion and collection, however, has involved predominantly White participants and has not considered lay definitions of family or family communication patterns about health. This qualitative study of 32 African American women, 16 with a history of cancer, analyzed participants’ definitions of family, family communication about health, and collection of FHH information. “Family” was defined by biological relatedness, social ties, interactions, and proximity. Several participants noted using different definitions of family for different purposes (e.g. biomedical vs. social). Health discussions took place between and within generations and were influenced by structural relationships (e.g. sister) and characteristics of family members (e.g. trustworthiness). Participants described managing tensions between sharing health information and protecting privacy, especially related to generational differences in sharing information, fear of familial conflict or gossip, and denial (sometimes described as refusal to “own” or “claim” a disease). Few participants reported that anyone in their family kept formal FHH records. Results suggest FHH initiatives should address family tensions and communication patterns that affect discussion and collection of FHH information. PMID:25730634

A Community-Based Intervention Program to Enhance Family Communication and Family Well-being: The Learning Families Project in Hong Kong

Directory of Open Access Journals (Sweden)

Chen Shen

2017-09-01

Full Text Available BackgroundFamily communication is important to maintain family relationships and family well-being. To enhance family communication and family well-being, a community-based “Learning Families Project,” based on the social ecological model was developed in Kwun Tong in Hong Kong, a district with high prevalence of family problems.MethodsThis quasi-experimental study included two nearby government subsidized low-rent housing estates separated by busy main roads, as the intervention [Tsui Ping (South Estate] and control (Shun Tin Estate estate. The main intervention was resident training programs, such as talks, day camps, and thematic activities. No program was implemented in the control estate. Participants in the intervention group received assessments before the intervention (T1, immediately after the intervention (T2, and 6 weeks after the intervention (T3. Control group participants were assessed at baseline (March to April 2011 and follow-up (December 2011 to March 2012. Assessments of family communication (time and perceived adequacy and family well-being (harmony, happiness, and health at T1 and T3 were obtained in the intervention group to examine within-group changes. In addition, these differences in outcomes in the intervention group were compared with those in the control group to examine the effectiveness of the intervention.ResultsFamily communication time and perceived communication adequacy increased significantly in the intervention group (n = 515 with a small effect size (Cohen effect d: 0.10 and 0.24, respectively. Compared with the control group (n = 476, the improvements in family communication time and perceived communication adequacy (Cohen effect d: 0.13 and 0.14, respectively, and perceived family harmony and happiness (Cohen effect d: 0.12 and 0.12, respectively were significantly greater in the intervention group, adjusting for age and education, suggesting the intervention was effective in improving

A Community-Based Intervention Program to Enhance Family Communication and Family Well-being: The Learning Families Project in Hong Kong.

Science.gov (United States)

Shen, Chen; Wan, Alice; Kwok, Lit Tung; Pang, Sally; Wang, Xin; Stewart, Sunita M; Lam, Tai Hing; Chan, Sophia Siu Chee

2017-01-01

Family communication is important to maintain family relationships and family well-being. To enhance family communication and family well-being, a community-based "Learning Families Project," based on the social ecological model was developed in Kwun Tong in Hong Kong, a district with high prevalence of family problems. This quasi-experimental study included two nearby government subsidized low-rent housing estates separated by busy main roads, as the intervention [Tsui Ping (South) Estate] and control (Shun Tin Estate) estate. The main intervention was resident training programs, such as talks, day camps, and thematic activities. No program was implemented in the control estate. Participants in the intervention group received assessments before the intervention (T1), immediately after the intervention (T2), and 6 weeks after the intervention (T3). Control group participants were assessed at baseline (March to April 2011) and follow-up (December 2011 to March 2012). Assessments of family communication (time and perceived adequacy) and family well-being (harmony, happiness, and health) at T1 and T3 were obtained in the intervention group to examine within-group changes. In addition, these differences in outcomes in the intervention group were compared with those in the control group to examine the effectiveness of the intervention. Family communication time and perceived communication adequacy increased significantly in the intervention group ( n  = 515) with a small effect size (Cohen effect d : 0.10 and 0.24, respectively). Compared with the control group ( n  = 476), the improvements in family communication time and perceived communication adequacy (Cohen effect d : 0.13 and 0.14, respectively), and perceived family harmony and happiness (Cohen effect d : 0.12 and 0.12, respectively) were significantly greater in the intervention group, adjusting for age and education, suggesting the intervention was effective in improving family communication and

Efficacy of family mediation and the role of family violence: study protocol

Science.gov (United States)

2014-01-01

Background Family law reforms in Australia require separated parents in dispute to attempt mandatory family dispute resolution (FDR) in community-based family services before court attendance. However, there are concerns about such services when clients present with a history of high conflict and family violence. This study protocol describes a longitudinal study of couples presenting for family mediation services. The study aims to describe the profile of family mediation clients, including type of family violence, and determine the impact of violence profiles on FDR processes and outcomes, such as the type and durability of shared parenting arrangements and clients’ satisfaction with mediated agreements. Methods A mixed method, naturalistic longitudinal design is used. The sampling frame is clients presenting at nine family mediation centres across metropolitan, outer suburban, and regional/rural sites in Victoria, Australia. Data are collected at pre-test, completion of mediation, and six months later. Self-administered surveys are administered at the three time points, and a telephone interview at the final post-test. The key study variable is family violence. Key outcome measures are changes in the type and level of acrimony and violent behaviours, the relationship between violence and mediated agreements, the durability of agreements over six months, and client satisfaction with mediation. Discussion Family violence is a major risk to the physical and mental health of women and children. This study will inform debates about the role of family violence and how to manage it in the family mediation context. It will also inform decision-making about mediation practices by better understanding how mediation impacts on parenting agreements, and the implications for children, especially in the context of family violence. PMID:24443936

Efficacy of family mediation and the role of family violence: study protocol.

Science.gov (United States)

Cleak, Helen; Schofield, Margot; Bickerdike, Andrew

2014-01-21

Family law reforms in Australia require separated parents in dispute to attempt mandatory family dispute resolution (FDR) in community-based family services before court attendance. However, there are concerns about such services when clients present with a history of high conflict and family violence. This study protocol describes a longitudinal study of couples presenting for family mediation services. The study aims to describe the profile of family mediation clients, including type of family violence, and determine the impact of violence profiles on FDR processes and outcomes, such as the type and durability of shared parenting arrangements and clients' satisfaction with mediated agreements. A mixed method, naturalistic longitudinal design is used. The sampling frame is clients presenting at nine family mediation centres across metropolitan, outer suburban, and regional/rural sites in Victoria, Australia. Data are collected at pre-test, completion of mediation, and six months later. Self-administered surveys are administered at the three time points, and a telephone interview at the final post-test. The key study variable is family violence. Key outcome measures are changes in the type and level of acrimony and violent behaviours, the relationship between violence and mediated agreements, the durability of agreements over six months, and client satisfaction with mediation. Family violence is a major risk to the physical and mental health of women and children. This study will inform debates about the role of family violence and how to manage it in the family mediation context. It will also inform decision-making about mediation practices by better understanding how mediation impacts on parenting agreements, and the implications for children, especially in the context of family violence.

Familial Pulmonary Fibrosis

Science.gov (United States)

... Education & Training Home Conditions Familial Pulmonary Fibrosis Familial Pulmonary Fibrosis Make an Appointment Find a Doctor Ask a ... more members within the same family have Idiopathic Pulmonary Fibrosis (IPF) or any other form of Idiopathic Interstitial ...

Normal Functioning Family

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... Spread the Word Shop AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care ... Español Text Size Email Print Share Normal Functioning Family Page Content Article Body Is there any way ...

Improving Family Communications

Science.gov (United States)

... Spread the Word Shop AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care ... Listen Español Text Size Email Print Share Improving Family Communications Page Content Article Body How can I ...

Familial gigantism

Directory of Open Access Journals (Sweden)

Wouter W. de Herder

2012-01-01

Full Text Available Familial GH-secreting tumors are seen in association with three separate hereditary clinical syndromes: multiple endocrine neoplasia type 1, Carney complex, and familial isolated pituitary adenomas.

A Model of Family Background, Family Process, Youth Self-Control, and Delinquent Behavior in Two-Parent Families

Science.gov (United States)

Jeong, So-Hee; Eamon, Mary Keegan

2009-01-01

Using data from a national sample of two-parent families with 11- and 12-year-old youths (N = 591), we tested a structural model of family background, family process (marital conflict and parenting), youth self-control, and delinquency four years later. Consistent with the conceptual model, marital conflict and youth self-control are directly…

Parental experience of family resources in single-parent families having a child with cancer.

Science.gov (United States)

Huang, I-Chen; Mu, Pei-Fan; Chiou, Tzeon-Jye

2008-10-01

The purpose of this study was to explore the essence of family experiences in terms of family resources and how these assist a single-parent caring for a child with cancer. When families face stresses caused by cancer, they need to readjust their roles, interactive patterns and relationships, both inside and outside the family. During the adaptation process, family resources may assist recovery from stress and a return to equilibrium. Most research has emphasised the support resources available to two-parent families during the treatment process. There is a lack of information on the experiences of single-parent families and their available resources together with the functions and roles played by family resources during the adjustment process. Qualitative. Five major themes were identified: (i) facing the disease with courage; (ii) hope kindled by professionals; (iii) constructing parental role ability; (iv) assisting the children to live with the illness; and (v) family flexibility. The results of the current study demonstrate that single-parent families with a child suffering from cancer employ family resources to assist family adjustment and to maintain family function/equilibrium. These results explain the dynamic interactions between the multiple levels of resources available to the family. The study results provide evidence-based information that identifies the nature of family resources in single-parent families and describes how these resources can be applied to assist the families.

How well are families doing? A description of family well-being in South Africa

Directory of Open Access Journals (Sweden)

Nicolette Vanessa Roman

2016-08-01

Full Text Available Objective: The purpose of this study was to describe the well-being of a sample of families from low socioeconomic communities in the Western Cape South Africa in terms of family resilience, family satisfaction, parenting styles, family structure and family functioning. Methods: The study used a descriptive survey design and sampled 358 adult family members. Results: The results indicate that although family functioning is challenged, parents are perceived to be using an authoritative parenting style and having a father present enhances family satisfaction. The results also describe families as displaying low-to-average levels of family resilience. Conclusion: This study provides a descriptive study of a sample of families in the Western Cape, South Africa. Overall the families in this study are not doing very well. The implications and significance of these findings are further explained.

Family Relationships and Psychosocial Dysfunction among Family Caregivers of Patients with Advanced Cancer

DEFF Research Database (Denmark)

Nissen, Kathrine Grovn; Trevino, Kelly; Lange, Theis

2016-01-01

CONTEXT: Caring for a family member with advanced cancer strains family caregivers. Classification of family types has been shown to identify patients at risk of poor psychosocial function. However, little is known about how family relationships affect caregiver psychosocial function. OBJECTIVES......: To investigate family types identified by a cluster analysis and to examine the reproducibility of cluster analyses. We also sought to examine the relationship between family types and caregivers' psychosocial function. METHODS: Data from 622 caregivers of advanced cancer patients (part of the Coping with Cancer...... Study) were analyzed using Gaussian Mixture Modeling as the primary method to identify family types based on the Family Relationship Index questionnaire. We then examined the relationship between family type and caregiver quality of life (Medical Outcome Survey Short Form), social support (Interpersonal...

Which family--what therapy: Maori culture, families and family therapy in New Zealand.

Science.gov (United States)

Kumar, Shailesh; Dean, Peter; Smith, Barry; Mellsop, Graham W

2012-04-01

New Zealand is a relatively young and small country which has seen steady migration for nearly seven centuries. Despite a long history of rivalry and hostility between Maori and European values, the country has also seen some significant synergism between the two cultures. For the last three decades Asians have also migrated at a significant pace. The country faces the challenge of delivering quality mental health services to such cultures which are bifurcated in being socio-centric (Maori, Pacific Islanders and Asian total 32% combined) or ego-centric (European total 68%). Significant progress has been made in including families of the mentally ill in their treatment and care planning. Legislative requirements have been introduced for the family to be consulted in the treatment of those who are being compelled to receive psychiatric care under the Mental Health Act. Models of family therapy developed through innovation meeting the unique local needs or adaptation of existing models from overseas are being used. An overview of such family therapy modalities is presented.

Development and Examination of a Family Triadic Measure to Examine Quality of Life Family Congruence in Nursing Home Residents and Two Family Members.

Science.gov (United States)

Aalgaard Kelly, Gina

2015-01-01

Objective: The overall purpose of this study was to propose and test a conceptual model and apply family analyses methods to understand quality of life family congruence in the nursing home setting. Method: Secondary data for this study were from a larger study, titled Measurement, Indicators and Improvement of the Quality of Life (QOL) in Nursing Homes . Research literature, family systems theory and human ecological assumptions, fostered the conceptual model empirically testing quality of life family congruence. Results: The study results supported a model examining nursing home residents and two family members on quality of life family congruence. Specifically, family intergenerational dynamic factors, resident personal and social-psychological factors, and nursing home family input factors were examined to identify differences in quality of life family congruence among triad families. Discussion: Formal family involvement and resident cognitive functioning were found as the two most influential factors to quality of life family congruence (QOLFC).

Uniqueness of family therapists as family business systems consultants: a cross-disciplinary investigation.

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Lee, Jinhee; Danes, Sharon M

2012-06-01

The purpose of this study is to address how the consulting approaches of family therapists working with family businesses differ from those of business consultants. The logic of analytic induction was used to analyze qualitative data from family business consultants with and without training in family therapy. Consultants were asked to respond to two vignettes: one emphasized primarily family system problems, whereas the other emphasized business problems with influencing issues at the family/business intersection. Both similarities and differences were found in reference to problem assessment, consulting goal orientation, intervention strategy focus, consultant role and function, and consulting setting preference between consultants with and without family therapy training. Results indicate that consultants of each discipline provide a unique perspective and expertise that allow them to successfully address the spectrum of issues that family firms face. Further, findings highlight the unique contribution of family therapists to an interdisciplinary consulting team. © 2012 American Association for Marriage and Family Therapy.

Non-family manager in family businesses: Evidence from the Czech Republic

Directory of Open Access Journals (Sweden)

Zuzana Fraňková

2017-10-01

Full Text Available This article presents selected results of a pilot survey of the project “The Business Processes in Relation to Selected Aspects of The Business Environment“. This project is focused on the processes in a company and looks at a company from three selected aspects: an organizational structure, ownership and a relationship to the environment. This article concerns the ownership aspect, concretely family ownership in the relation with an organizational structure of the company. In framework of these aspects, the article shows the difference between family and non-family companies. Next, it describes presence of an external manager in the family firm and how this fact influences selected variables. The results show that there is the difference between family firms with an external manager and these with only family members in the management.

Young family as the basis of forming family potential in perspective

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H. H. Mamadalieva

2017-01-01

Full Text Available The purpose of the article is to disclose the place and the role of a young family in formation in perspective of the family potential of the Republic of Uzbekistan. The family represents an association of people based on marriage or consanguinity, who have a common life and mutual responsibility, and is an essential component of the social structure of the society. It is the most important life value in many countries. These days, there is often a transition to new models of family formation. The family in Uzbekistan is quite stable, despite new and not always positive trends occurring in the world. It continues to be the most important value in life, the guardian of national traditions and customs, the basis of personality formation and healthy way of living. The scientific novelty of the article is that for the fi rst time the role and the place of a young family in formation in the perspective of family potential is disclosed using the example of Uzbekistan. According to the Law of the Republic of Uzbekistan «About the State Youth Policy» a young family is a family where the age of both spouses does not exceed thirty inclusive, or a family in where children (child are raised by one parent aged no more than thirty inclusive, including the divorced, and the widower (widow. Procreation of population is largely due to a young family (3/4 of the total number of children are born with the parents under 30 years of age. Uzbekistan is characterized by a high marriage rate. The population, entering into marriage, increases annually in the Republic. At the same time, the marriage rate grows. All this promotes formation of young families and increase of their share in the total number of families in the Republic. The measures provided by the state policy concerning families in general, refer, mostly and largely, to young families in the fi rst place. Methods of statistical analysis, methods of groups, and methods of

Shodagor Family Strategies : Balancing Work and Family on the Water.

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Starkweather, Kathrine E

2017-06-01

The Shodagor of Matlab, Bangladesh, are a seminomadic community of people who live and work on small wooden boats, within the extensive system of rivers and canals that traverse the country. This unique ecology places particular constraints on family and economic life and leads to Shodagor parents employing one of four distinct strategies to balance childcare and provisioning needs. The purpose of this paper is to understand the conditions that lead a family to choose one strategy over another by testing predictions about socioecological factors that impact the sexual division of labor, including a family's stage in the domestic cycle, aspects of the local ecology, and the availability of alloparents. Results show that although each factor has an impact on the division of labor individually, a confluence of these factors best explains within-group, between-family differences in how mothers and fathers divide subsistence and childcare labor. These factors also interact in particular ways for Shodagor families, and it appears that families choose their economic strategies based on the constellation of constraints that they face. The results of these analyses have implications for theory regarding the sexual division of labor across cultures and inform how Shodagor family economic and parenting strategies should be contextualized in future studies.

Parental Ethnotheories and Family Language Policy in Transnational Adoptive Families

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Fogle, Lyn Wright

2013-01-01

Family language policy refers to explicit and overt decisions parents make about language use and language learning as well as implicit processes that legitimize certain language and literacy practices over others in the home. Studies in family language policy have emphasized the ways in which family-internal processes are shaped by and shape…

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

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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).

Adolescent culture brokering and family functioning: a study of families from Vietnam.

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Trickett, Edison J; Jones, Curtis J

2007-04-01

In immigrant families, culture brokering (CB) refers to the ways in which children and adolescents serve as mediator between their family and aspects of the new culture. This study focused on the debate in the literature about whether CB implies "role reversal" in the family and "adultification" of the adolescent or whether CB is better understood as simply one of the many ways that immigrant children contribute to family functioning. Results indicated a mixed picture with respect to this debate. Greater amounts of adolescent CB were indeed related to higher adolescent reports of family conflict, but also to greater family adaptability. In addition, the amount of CB was unrelated to family satisfaction and family cohesion. Secondary questions centered on the relationship of CB to adolescent and parent demographic and acculturation variables. Here, CB was related to parent acculturation patterns but not those of adolescents. Implications for future research on the CB role are discussed. (c) 2007 APA, all rights reserved.

The Contemporary Postmodern Family and the Division of Work Inside the Family

Directory of Open Access Journals (Sweden)

Eleonóra Mendelová

2014-04-01

Full Text Available In accordance with changes in social conditions, family life experiences its own development and as a result of it, the traditional family changed into the modern family and then to the postmodern family. The article presents descriptions of the current postmodern family, which form a basis for the analysis of the work division inside the family. The aim of the paper is to present the current state of patrimonial division of work inside the family and to detect the participation of men and women in everyday duties and work in the household and participation in child care, based on the empirical findings (with emphasis on Slovak and Czech research. The next aim is to analyse opinions and expectations of people in the area of parental roles and get an answer to the question, whether equal relationships exist in current families or there is a continuation of specific gender divisions of work in the household.

INSTITUTIONALIZATION OF FAMILY FARMING IN THE CONTEXT OF A FAMILY BUSINESS IN UKRAINE

Directory of Open Access Journals (Sweden)

Y. Solonenko

2016-03-01

Full Text Available This article explores the situation of family farms in the world, highlighted their key role in ensuring food security and preserving natural resources. We consider the activities of the Food and Agriculture Organization (FAO of the United Nations aimed at supporting and developing family farms at the regional, national, international levels. In the process of reforming the agricultural sector of Ukraine is the search for effective forms and methods of management. By introducing international experience progressive institutional approach to a market economy in agricultural production, the country embarked on the creation of family farms. Family farms is the most effective form of economic activity in rural areas, provided their institutionalization, state support, fight against corruption and monopolies in agribusiness. In the article the formation of family farms in Ukraine from institutional positions. Reflects the process of formation of the Institute for Family Business in Ukraine as family farms. Defined intrinsic characteristics and stages of institutionalization of family farms. The analysis measures the state and society on the institutionalization of family farms in Ukraine. Outlined prospects of Ukrainian family farms and proposed institutional arrangements to ensure the balanced functioning of a viable model of family farm management in the context of the family business in Ukraine.

Village family planning volunteers in Indonesia: their role in the family planning programme.

Science.gov (United States)

Utomo, Iwu Dwisetyani; Arsyad, Syahmida S; Hasmi, Eddy Nurul

2006-05-01

Family planning was once a sensitive issue in Indonesia, but today it is considered essential. This paper reports on a study in 1997-98 of the role of village family planning volunteers and the cadres who worked under them in West Java, Central Java and DI Yogyakarta, in implementing the national family planning programme in Indonesia. A total of 108 village family planning volunteers, 108 family planning cadres, 108 local leaders and 324 couples eligible for family planning from 36 villages in the three provinces were interviewed. The volunteers and cadres have made a significant contribution to the implementation of the family planning programme. They promote family planning, organise meetings, provide information, organise income-generation activities, give savings and credit assistance, collect and report data and deliver other family welfare services. Teachers, wives of government officials and others recognised by the community as better off in terms of education and living conditions were most often identified to become family planning volunteers. Because they are women and because they are the most distant arm of the programme, their work is taken for granted. As their activities are directed towards women, especially in women's traditional roles, the programme tends to entrench the existing gender gap in responsibility for family planning and family welfare.

Strategies for improving family engagement during family-centered rounds.

Science.gov (United States)

Kelly, Michelle M; Xie, Anping; Carayon, Pascale; DuBenske, Lori L; Ehlenbach, Mary L; Cox, Elizabeth D

2013-04-01

Family-centered rounds (FCR) are recommended as standard practice in the pediatric inpatient setting; however, limited data exist on best practices promoting family engagement during rounds. To identify strategies to enhance family engagement during FCR using a recognized systems engineering approach. In this qualitative study, stimulated recall interviews using video-recorded rounding sessions were conducted with participants representing the various stakeholders on rounds (15 parents/children and 22 healthcare team [HCT] members) from 4 inpatient services at a children's hospital in Wisconsin. On video review, participants were asked to provide strategies that would increase family engagement on FCR. Qualitative content analysis of interview transcripts was performed in an iterative process. We identified 21 categories of strategies corresponding to 2 themes related to the structure and process of FCR. Strategies related to the structure of FCR were associated with all five recognized work system elements: people (HCT composition), tasks (HCT roles), organization (scheduling of rounds and HCT training), environment (location of rounds and HCT positioning), and tools and technologies (computer use). Strategies related to the FCR process were associated with three rounding phases: before (HCT and family preparation), during (eg, introductions, presentation content, communication style), and after (follow-up) FCR. We identified a range of strategies to enhance family engagement during FCR. These strategies both confirm prior work on the importance of the content and style of communication on rounds and highlight other factors within the hospital work system, like scheduling and computer use, which may affect family engagement in care. Copyright © 2013 Society of Hospital Medicine.

Family Change and Implications for Family Solidarity and Social Cohesion

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Ravanera, Zenaida

2008-01-01

Full Text Available EnglishSocial cohesion can be viewed in terms of common projects and networks of social relations that characterize families, communities and society. In the past decades, the basis for family cohesion has shifted from organic to mechanical or from breadwinner to collaborative model. As in many Western countries, data on family change in Canada point to a greater flexibility in the entry and exit from relationships, a delay in the timing of family events, and a diversity of family forms. After looking at changes in families and in the family setting of individuals, the paper considers both intra-family cohesion and families as basis for social cohesion. Implications are raised for adults, children and publicp olicy.FrenchLa cohésion sociale peut se voir à travers les projets communs et les réseaux desrelations sociales qui caractérisent les familles, les communautés et les sociétés.La base de cohésion familiale est passée d’organique à mécanique, pour utiliserles termes de Durkheim, ou vers un modèle de collaboration plutôt qu’unepartage asymétrique de tâches. Comme dans d’autres sociétés orientales, lafamille au Canada est devenue plus flexible par rapport aux entrées et sortiesd’unions, il y a un délais dans les événements familiaux, et une variété deformes de familles. Après un regard sur les changements dans les familles etdans la situation familiale des individus, nous considérons la cohésion intrafamilialeet la famille comme base de cohésion sociale. Nous discutons desimpacts sur les adultes, les enfants et la politique publique.

Multiplex families with epilepsy

Science.gov (United States)

Afawi, Zaid; Oliver, Karen L.; Kivity, Sara; Mazarib, Aziz; Blatt, Ilan; Neufeld, Miriam Y.; Helbig, Katherine L.; Goldberg-Stern, Hadassa; Misk, Adel J.; Straussberg, Rachel; Walid, Simri; Mahajnah, Muhammad; Lerman-Sagie, Tally; Ben-Zeev, Bruria; Kahana, Esther; Masalha, Rafik; Kramer, Uri; Ekstein, Dana; Shorer, Zamir; Wallace, Robyn H.; Mangelsdorf, Marie; MacPherson, James N.; Carvill, Gemma L.; Mefford, Heather C.; Jackson, Graeme D.; Scheffer, Ingrid E.; Bahlo, Melanie; Gecz, Jozef; Heron, Sarah E.; Corbett, Mark; Mulley, John C.; Dibbens, Leanne M.; Korczyn, Amos D.

2016-01-01

Objective: To analyze the clinical syndromes and inheritance patterns of multiplex families with epilepsy toward the ultimate aim of uncovering the underlying molecular genetic basis. Methods: Following the referral of families with 2 or more relatives with epilepsy, individuals were classified into epilepsy syndromes. Families were classified into syndromes where at least 2 family members had a specific diagnosis. Pedigrees were analyzed and molecular genetic studies were performed as appropriate. Results: A total of 211 families were ascertained over an 11-year period in Israel. A total of 169 were classified into broad familial epilepsy syndrome groups: 61 generalized, 22 focal, 24 febrile seizure syndromes, 33 special syndromes, and 29 mixed. A total of 42 families remained unclassified. Pathogenic variants were identified in 49/211 families (23%). The majority were found in established epilepsy genes (e.g., SCN1A, KCNQ2, CSTB), but in 11 families, this cohort contributed to the initial discovery (e.g., KCNT1, PCDH19, TBC1D24). We expand the phenotypic spectrum of established epilepsy genes by reporting a familial LAMC3 homozygous variant, where the predominant phenotype was epilepsy with myoclonic-atonic seizures, and a pathogenic SCN1A variant in a family where in 5 siblings the phenotype was broadly consistent with Dravet syndrome, a disorder that usually occurs sporadically. Conclusion: A total of 80% of families were successfully classified, with pathogenic variants identified in 23%. The successful characterization of familial electroclinical and inheritance patterns has highlighted the value of studying multiplex families and their contribution towards uncovering the genetic basis of the epilepsies. PMID:26802095

Impact of Family History Assessment on Communication with Family Members and Health Care Providers: A report from the Family Healthware™ Impact Trial (FHITr)

Science.gov (United States)

Wang, Catharine; Sen, Ananda; Plegue, Melissa; Ruffin, Mack T.; O'Neill, Suzanne M.; Rubinstein, Wendy S.; Acheson, Louise S.

2015-01-01

Objective This study examines the impact of Family Healthware™ on communication behaviors; specifically, communication with family members and health care providers about family health history. Methods A total of 3786 participants were enrolled in the Family Healthware™ Impact Trial (FHITr) in the United States from 2005-7. The trial employed a two-arm cluster-randomized design, with primary care practices serving as the unit of randomization. Using generalized estimating equations (GEE), analyses focused on communication behaviors at 6 month follow-up, adjusting for age, site and practice clustering. Results A significant interaction was observed between study arm and baseline communication status for the family communication outcomes (psfamily members about family history risk (OR=1.24, p=0.042) and actively collecting family history information at follow-up (OR=2.67, p=0.026). Family Healthware™ did not have a significant effect on family communication among those already communicating at baseline, or on provider communication, regardless of baseline communication status. Greater communication was observed among those at increased familial risk for a greater number of diseases. Conclusion Family Healthware™ prompted more communication about family history with family members, among those who were not previously communicating. Efforts are needed to identify approaches to encourage greater sharing of family history information, particularly with health care providers. PMID:25901453

Family planning education.

Science.gov (United States)

Hamburg, M V

1983-02-01

17 days were spent devoted to the effort of learning about China's educational approach to family planning in the hope of discovering how they are achieving their remarkable success in reducing population growth. As a member of the 1981 New York University/SIECUS Colloquim in China, it was necessary to rely on the translation provided by the excellent guides. Discussions were focused on questions prepared in advance about the topics that concerned the group. These observations, based on a short and limited exposure, cover the following areas: marriage and family planning policies; the family planning program; school programs; adult education; family planning workers; and unique aspects of the program. China has an official position on marriage and family planning that continues to undergo revisions. The new marriage law sets the minimum ages of marriage at 22 for men and 20 for women. Almost everyone marries, and an unmarried person over age 28 is a rarity. The family planning program in China is carried out by an extensive organizational network at national, provincial, and local government levels. Officials termed it a "propaganda campaign." Hospitals, clinics, and factories invariably displayed posters; a popular set of four presents the advantages of the 1 child family as follows: late marriage is best, for it allows more time to work and study; 1 child is best for the health of the mother; one gets free medical care for his/her child if a family has only 1 child; and there is more time to teach 1 child. The state operated television regularly explains the 1 child policy utilizing special films. According to 1 family planning official, "before marriage there is little sex." There are few abortions for unmarried women. Education about sex is for adults, for those persons who are about to be married. There is little if any sex education in schools. Sexual teaching is not generally acceptable, especially in the rural areas. By contrast, in Shanghai the physiology

[Family dynamics and chronic illness: children with diabetes in the context of their families].

Science.gov (United States)

Wirlach-Bartosik, S; Schubert, M T; Freilinger, M; Schober, E

2005-01-01

The present study is based on the assumption of an interaction between family functioning and chronic illness. Using a systemic approach, the intra-familial situation of families with a diabetes-affected child is examined. 44 families were evaluated using a family diagnostic instrument ("Familienbögen") and compared with 31 control families with a healthy child. Furthermore, the study looked at the influence of the level of family functioning on glycemic control, as measured by HbA1c values, and vice versa. Families with a child affected by diabetes showed significantly more dysfunctional domains and higher discrepancies of the ratings in the family diagnostic instrument (p familial dynamics, it may, at the same time, offer opportunities for an improvement of family relationships. However, if physiological parameters deteriorate in the child (poor glycemic control), family problems seem to become less important. Success in the treatment of diabetes patients should therefore not only be measured by the quality of glycemic control, but also by considering psychological factors and aspects of family dynamics.

[Different approaches to the family in the context of the family health program/strategy].

Science.gov (United States)

Ribeiro, Edilza Maria

2004-01-01

This study presents the scenario that favored the inclusion of the family as a care focus in public policies. The strategies to interrupt the impoverishment and vulnerability of families in the XXth century occur in a different form, according to different "welfare states" in capitalist societies. However, in view of the welfare state crisis and the increasing costs of public and private services and privates, at least a partial family solution is required in terms of reducing its dependency. The Family Health Program (PSF) put the family on the Brazilian social policy agenda in 1994, reflecting interests from the neoliberal model as well as from solidary social forces. This inclusion generated different approaches, such as: family/individual; family/home; family/individual/home; family/community; family/social risk; family/family. These approaches, due to the lack of a mutual dialogue, end up composing an insufficiently identified picture, thus turning care more difficult. The conditions indicated here should be examined as a way of giving a true chance to the family

Roles within the Family

Science.gov (United States)

... Spread the Word Shop AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care ... Text Size Email Print Share Roles Within the Family Page Content Article Body Families are not democracies. ...

Federal Republic of Germany: family planning, family policy and demographic policy.

Science.gov (United States)

Zuhlke, W

1989-01-01

Decades of social change in West Germany and the emergence of an ideology that stresses individualism have altered dramatically procreative behavioral patterns. At present, West Germany is characterized by a low marriage rate (6.1/1000 in 1986), declining fertility (10.3 birth/1000), rising divorce rates (20.1/1000), and increases in the proportion of single-person households (34%). The relationship between family planning, family policy, and demographic policy is unclear and changing. Family planning practice is viewed as a part of comprehensive life planning and is based on factors such as partnership or marital status, sex roles, the conflict between working in the home and having a career, consumer aspirations, and housing conditions. The Government's family policy includes the following components: child benefits, tax relief on children, tax splitting arrangements for married couples, childcare allowance, parental leave, student grants, tax deductions for domiciliary professional help and nursing assistance, and the provision of daycare. Thus, West Germany's family policy is directed more at encouraging and facilitating parenthood and family life than at a setting demographic goals. There is no evidence, however, that such measures will be successful and divergent influences of other policy areas are often more compelling. Nor is there any way to quantify the fertility-costing impact of individual family policy measures. The indistinct nature of family planning policy in West Germany mirrors political differences between the current coalition government, which maintains a traditional view of the family, and the opposition Social-Democratic and Green Parties, which question whether the equality of men and women can be achieved in the context of old family structures.

Advancing family psychology.

Science.gov (United States)

Fiese, Barbara H

2016-02-01

To realize the broad and complex nature of the field of family psychology, I have slightly revised the mission statement of the Journal of Family Psychology (JFP) to capture contemporary scholarship in family psychology and to advance systems perspectives in this top-tier scientific journal. Over the next 6 years, I hope that authors will consider JFP as an outlet for their best work in the following areas: (1) JFP addresses societal challenges faced by families today; (2) JFP publishes important studies on what makes couple and family relationships work; (3) JFP is a leader in publishing reports that use cutting-edge sophisticated approaches to research design and data analysis; and (4) JFP imparts knowledge about effective therapy and prevention programs relevant to couples and families. The journal is also expanding its publication rate to eight issues per year. (c) 2016 APA, all rights reserved).

Family Polymorphism

DEFF Research Database (Denmark)

Ernst, Erik

2001-01-01

safety and flexibility at the level of multi-object systems. We are granted the flexibility of using different families of kinds of objects, and we are guaranteed the safety of the combination. This paper highlights the inability of traditional polymorphism to handle multiple objects, and presents family...... polymorphism as a way to overcome this problem. Family polymorphism has been implemented in the programming language gbeta, a generalized version of Beta, and the source code of this implementation is available under GPL....

[Life lessons of eight families donating organs of deceased family members].

Science.gov (United States)

Avilés R, Lissette; Rivera M, M Soledad; Catoni S, María Isabel

2014-06-01

Most organ donors are already death. Therefore family members become an essential link in the final decision for organ donation. To get acquainted about the life lessons of people who accepted donating an organ of a deceased family member. Qualitative research, in depth interviews to eight families that accepted donating an organ of a deceased family member. The interviews were analyzed using the method proposed by Streubert et al and modified by Rivera. The life lessons are described in six comprehensive categories. The painful experience changed towards the feeling that the loved one remains alive. This sensation generated a sense of pride in family members and sensitized them towards the painful experience of other people. Therefore, a desire to help and improve as humans beings was awakened. A compassionate approach towards families donating organs with improve organ donation and humanize the process.

FAMILIAL AMYLOID POLYNEUROPATHY——CLINICAL REPORT OF A FAMILY

Institute of Scientific and Technical Information of China (English)

李延峰; 郭玉璞; 池田修一; 方定华

1996-01-01

This paper reports a familial amyloid polyneumpathy (FAP) family in China. This family being investigated had 69 members of five generations. From the third generation, there have been 16 patients. The age of onset was about 3 to 5 decades. The initial symptoms were autonomic nerve symptcans, such as impotence, dyspepaia and diarrhoea, associated with the sensory loss of lower extremities. As the disease progressed. the upper extremities and motor ability were also involved. The duration of disease course wasabout 8-10 years, most patients died of infection and cacbexia. Sural biopsy in 3 patients had showed positive Congo red staining. From the clinical view, this FAP family is similar to FAP I found in Japan. Thetrue classification, however, should be confirmed by further genetic analysis.

Families of Children with Chronic Illness and the Relational Family Model

Directory of Open Access Journals (Sweden)

Tanja Pate

2016-09-01

Full Text Available Families of children with chronic illness experience persistent stress. Facing the diagnosis and learning how to cope with it is a stressful experience not only for the child but also for the parents and for the whole family. The illness, with its unpredictability and treatment, disturbs their daily routine and threatens the whole family system. Parental involvement in the child’s disease management and their emotional support are crucial for effective coping and adaptation to the child’s chronic illness. The aim of this article is to present the importance of the parental role in these families through theoretical findings of the relational family model.

Individual health insurance within the family : can subsidies promote family coverage?

OpenAIRE

Kanika Kapur; M. Susan Marquis; José J. Escarce

2007-01-01

This paper examines the role of price in health insurance coverage decisions within the family to guide policy in promoting whole family coverage. We analyze the factors that affect individual health insurance coverage among families, and explore family decisions about whom to cover and whom to leave uninsured. The analysis uses household data from California combined with abstracted individual health plan benefit and premium data. We find that premium subsidies for individual insurance would...

Working mothers: Family-work conflict, job performance and family/work variables

OpenAIRE

Cynthia J Patel; Vasanthee Govender; Zubeda Paruk; Sarojini Ramgoon

2006-01-01

The present study examined the relationship between family-work conflict, job performance and selected work and family characteristics in a sample of working mothers employed at a large retail organization. The hypothesis of a negative relationship between family-work conflict and job performance was rejected. Married women reported significantly higher family-work conflict than unmarried women, while women in the highest work category gained the highest job performance rating. More than half...

Oral features of a family with benign familial neutropenia.

Science.gov (United States)

Porter, S R; Luker, J; Scully, C; Oakhill, A

1994-05-01

The oral features of three members of a family with familial benign neutropenia (a mother and two children) are detailed. Prepubertal periodontitis, oral ulceration, and angular stomatitis were the principal features.

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

Science.gov (United States)

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.

Family Counseling Psychology.

Science.gov (United States)

Levant, Ronald F., ed.

1983-01-01

Describes programs for family counseling which use psychological-educational and skills training methods to remediate individual and family problems or enhance family life. The six articles discuss client-centered skills training, behavioral approaches, cognitive behavioral marital therapy, Adlerian parent education, and couple communication. (JAC)

Impact of family history assessment on communication with family members and health care providers: A report from the Family Healthware™ Impact Trial (FHITr).

Science.gov (United States)

Wang, Catharine; Sen, Ananda; Plegue, Melissa; Ruffin, Mack T; O'Neill, Suzanne M; Rubinstein, Wendy S; Acheson, Louise S

2015-08-01

This study examines the impact of Family Healthware™ on communication behaviors; specifically, communication with family members and health care providers about family health history. A total of 3786 participants were enrolled in the Family Healthware™ Impact Trial (FHITr) in the United States from 2005-7. The trial employed a two-arm cluster-randomized design, with primary care practices serving as the unit of randomization. Using generalized estimating equations (GEE), analyses focused on communication behaviors at 6month follow-up, adjusting for age, site and practice clustering. A significant interaction was observed between study arm and baseline communication status for the family communication outcomes (p'scommunicating at baseline and those who were not. Among participants who were not communicating at baseline, intervention participants had higher odds of communicating with family members about family history risk (OR=1.24, p=0.042) and actively collecting family history information at follow-up (OR=2.67, p=0.026). Family Healthware™ did not have a significant effect on family communication among those already communicating at baseline, or on provider communication, regardless of baseline communication status. Greater communication was observed among those at increased familial risk for a greater number of diseases. Family Healthware™ prompted more communication about family history with family members, among those who were not previously communicating. Efforts are needed to identify approaches to encourage greater sharing of family history information, particularly with health care providers. Copyright © 2015 Elsevier Inc. All rights reserved.

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

Science.gov (United States)

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.

Family Resiliency, Family Needs, and Community Reintegration in Persons with Brain Injury

Science.gov (United States)

Frain, Julianne; Dillahunt-Aspillaga, Tina; Frain, Michael; Ehkle, Sarah

2014-01-01

Purpose: The purpose of the study was to measure predictors of community reintegration and empirically test the resiliency model of family stress, adjustment, and adaptation in persons with traumatic brain injury (TBI). The study also aimed to measure family needs by surveying caregiving family members through the use of the Family Needs…

[Family therapy of encopresis].

Science.gov (United States)

Spitczok von Brisinski, Ingo; Lüttger, Fred

2007-01-01

Encopresis is a taboo symptom, which is connected with great suffering from mental pressure not only for the children concerned, but also their relatives. Family related approaches are indispensable to understand encopresis, because as a result of high symptom persistence and psychological comorbidity in many cases a purely behavior-therapeutic, symptom focused approach is not sufficient, and further psychotherapeutic interventions are necessary. There is a strong temporal correlation between family interaction and frequency of soiling and changes of interaction influence changes in soiling more than the other way round. In a literature review different family relationship patterns and approaches of family therapy are represented regarding encopresis. Meaningful differences for family therapy are represented regarding primary/secondary encopresis, encopresis with/without comorbid psychiatric disorder as well as encopresis with/without dysfunctional family interaction. Distinctions are made between symptom focused, not-symptom focused and combined family therapeutic approaches, which are illustrated with case examples of outpatient and inpatient treatment. Symptom focused family therapy like e.g. externalizing of the soiling is helpful also if no dysfunctional family interaction patterns are present, because all family members can contribute to treatment success according to their own resources.

IGSF9 Family Proteins

DEFF Research Database (Denmark)

Hansen, Maria; Walmod, Peter Schledermann

2013-01-01

The Drosophila protein Turtle and the vertebrate proteins immunoglobulin superfamily (IgSF), member 9 (IGSF9/Dasm1) and IGSF9B are members of an evolutionarily ancient protein family. A bioinformatics analysis of the protein family revealed that invertebrates contain only a single IGSF9 family gene......, the longest isoforms of the proteins have the same general organization as the neural cell adhesion molecule family of cell adhesion molecule proteins, and like this family of proteins, IGSF9 family members are expressed in the nervous system. A review of the literature revealed that Drosophila Turtle...... facilitates homophilic cell adhesion. Moreover, IGSF9 family proteins have been implicated in the outgrowth and branching of neurites, axon guidance, synapse maturation, self-avoidance, and tiling. However, despite the few published studies on IGSF9 family proteins, reports on the functions of both Turtle...

Resilience of refugee families

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Batić Dragana

2012-01-01

Full Text Available This study attempted to find a correlation between the trauma of family members of war and exile, and the characteristics of family functioning and lasted from 1992-1995. The term “family resilience” refers to the processes of adaptation and coping in the family as a functional unit. This paper presents a study of refugee families from Bosnia, who lived in refugee camps in Macedonia during the war of 1992- 1995. Data were obtained by interviews, observations, and a number of psychological instruments especially for children and parents, which measured the effects of psychological stress and family relationships. Based on the results obtained by quantitative and qualitative analysis, and application of theoretical models of systemic theory and family therapy, existence for four types of refugee families has been found and described, depending on the structure and the level of functionality.

Disrupted Refugee Family Life

DEFF Research Database (Denmark)

Shapiro, Ditte Krogh

2017-01-01

Fleeing civil war involves managing life threatening events and multiple disruptions of everyday life. The theoretical potentials of analysing the recreation of everyday family life among Syrian refugees in Denmark is explored based on conceptualizations that emphasize the collective agency...... of family members in social historical contexts. Studying the multiple perspectives of family members shows how social support conceptualized as care practises is conflictual in the changing everyday family practices that are transformed by policy. The purpose of studying how families manage to flee civil...... war and struggle to recreate an everyday life in exile is to contribute with contextualization and expansion of mainstream understandings of family life, suffering, and resilience in refugee family trajectories in multiple contexts....

Loosely coupled class families

DEFF Research Database (Denmark)

Ernst, Erik

2001-01-01

are expressed using virtual classes seem to be very tightly coupled internally. While clients have achieved the freedom to dynamically use one or the other family, it seems that any given family contains a xed set of classes and we will need to create an entire family of its own just in order to replace one...... of the members with another class. This paper shows how to express class families in such a manner that the classes in these families can be used in many dierent combinations, still enabling family polymorphism and ensuring type safety....

Multi-gene phylogeny of jacks and pompanos (Carangidae), including placement of monotypic vadigo Campogramma glaycos.

Science.gov (United States)

Damerau, M; Freese, M; Hanel, R

2018-01-01

In this study, the phylogenetic trees of jacks and pompanos (Carangidae), an ecologically and morphologically diverse, globally distributed fish family, are inferred from a complete, concatenated data set of two mitochondrial (cytochrome c oxidase I, cytochrome b) loci and one nuclear (myosin heavy chain 6) locus. Maximum likelihood and Bayesian inferences are largely congruent and show a clear separation of Carangidae into the four subfamilies: Scomberoidinae, Trachinotinae, Naucratinae and Caranginae. The inclusion of the carangid sister lineages Coryphaenidae (dolphinfishes) and Rachycentridae (cobia), however, render Carangidae paraphyletic. The phylogenetic trees also show with high statistical support that the monotypic vadigo Campogramma glaycos is the sister to all other species within the Naucratinae. © 2017 The Fisheries Society of the British Isles.

Family Economic Security Policies and Child and Family Health.

Science.gov (United States)

Spencer, Rachael A; Komro, Kelli A

2017-03-01

In this review, we examine the effects of family economic security policies (i.e., minimum wage, earned income tax credit, unemployment insurance, Temporary Assistance to Needy Families) on child and family health outcomes, summarize policy generosity across states in the USA, and discuss directions and possibilities for future research. This manuscript is an update to a review article that was published in 2014. Millions of Americans are affected by family economic security policies each year, many of whom are the most vulnerable in society. There is increasing evidence that these policies impact health outcomes and behaviors of adults and children. Further, research indicates that, overall, policies which are more restrictive are associated with poorer health behaviors and outcomes; however, the strength of the evidence differs across each of the four policies. There is significant diversity in state-level policies, and it is plausible that these policy variations are contributing to health disparities across and within states. Despite increasing evidence of the relationship between economic policies and health, there continues to be limited attention to this issue. State policy variations offer a valuable opportunity for scientists to conduct natural experiments and contribute to evidence linking social policy effects to family and child well-being. The mounting evidence will help to guide future research and policy making for evolving toward a more nurturing society for family and child health and well-being.

Opinions of Primary Care Family Physicians About Family Medicine Speciality Training Program

Directory of Open Access Journals (Sweden)

Hamit Sirri Keten

2014-04-01

Material and Method: A total of 170 family physicians working in Kahramanmaras were included in the study. After obtaining informed consent a questionnaire comprising questions regarding socio-demographic properties, conveying contracted family physicians as family medicine specialists and organization of the training program was applied to participants. Results: Among physicians participating in the study 130 (76.5% were male and 40 (23.5% were female, with a mean age of 40.7±7.1 (min = 26 years, max = 64 years. The mean duration of professional experience of physicians was 15.3±7.0 (min = 2 years, max = 40 years years. Of all, 91 (53.5% participants had already read the decree on family medicine specialist training program for contracted family physicians. A hundred and fifteen (67.6% family physicians supported that Family Medicine Specialty program should be taken part-time without interrupting routine medical tasks. Only 51 (30.0% participants stated the requirement of an entrance examination (TUS for family medicine specialty training. Conclusion: Family medicine specialty training program towards family physicians should be considered in the light of scientific criteria. In family medicine, an area exhibited a holistic approach to the patient; specialty training should be through residency training instead of an education program. For this purpose, family medicine departments in medical faculties should play an active role in this process. Additionally further rotations in needed branches should be implemented with a revision of area should be performed. In medicine practical training is of high importance and distant or part-time education is not appropriate, and specialist training shall be planned in accordance with the medical specialty training regulations. [Cukurova Med J 2014; 39(2.000: 298-304

Does the Gap in Family-Friendly Policies Drive the Family Gap?

DEFF Research Database (Denmark)

Nielsen, Helena Skyt; Simonsen, Marianne; Verner, Mette

2004-01-01

Segregation of the labour market into a family-friendly and a non-family-friendly sector implies that women self-select into sectors depending on institutional constraints, preferences for family-friendly working conditions and expected wage differences. We take this sector dimension into account...

Parental employment and work-family stress: Associations with family food environments

Science.gov (United States)

Bauer, Katherine W.; Hearst, Mary O.; Escoto, Kamisha; Berge, Jerica M.; Neumark-Sztainer, Dianne

2013-01-01

Parental employment provides many benefits to children's health. However, an increasing number of studies have observed associations between mothers' full-time employment and less healthful family food environments. Few studies have examined other ways in which parental employment may be associated with the family food environment, including the role of fathers' employment and parents' stress balancing work and home obligations. This study utilized data from Project F-EAT, a population-based study of a socio-demographically diverse sample of 3709 parents of adolescents living in a metropolitan area in the Midwestern United States, to examine cross-sectional associations between mothers' and fathers' employment status and parents' work-life stress with multiple aspects of the family food environment. Among parents participating in Project F-EAT, 64% of fathers and 46% of mothers were full-time employed, while 25% of fathers and 37% of mothers were not employed. Results showed that full-time employed mothers reported fewer family meals, less frequent encouragement of their adolescents' healthful eating, lower fruit and vegetable intake, and less time spent on food preparation, compared to part-time and not-employed mothers, after adjusting for socio-demographics. Full-time employed fathers reported significantly fewer hours of food preparation; no other associations were seen between fathers' employment status and characteristics of the family food environment. In contrast, higher work-life stress among both parents was associated with less healthful family food environment characteristics including less frequent family meals and more frequent sugar-sweetened beverage and fast food consumption by parents. Among dual-parent families, taking into account the employment characteristics of the other parent did not substantially alter the relationships between work-life stress and family food environment characteristics. While parental employment is beneficial for many

Parental employment and work-family stress: associations with family food environments.

Science.gov (United States)

Bauer, Katherine W; Hearst, Mary O; Escoto, Kamisha; Berge, Jerica M; Neumark-Sztainer, Dianne

2012-08-01

Parental employment provides many benefits to children's health. However, an increasing number of studies have observed associations between mothers' full-time employment and less healthful family food environments. Few studies have examined other ways in which parental employment may be associated with the family food environment, including the role of fathers' employment and parents' stress balancing work and home obligations. This study utilized data from Project F-EAT, a population-based study of a socio-demographically diverse sample of 3709 parents of adolescents living in a metropolitan area in the Midwestern United States, to examine cross-sectional associations between mothers' and fathers' employment status and parents' work-life stress with multiple aspects of the family food environment. Among parents participating in Project F-EAT, 64% of fathers and 46% of mothers were full-time employed, while 25% of fathers and 37% of mothers were not employed. Results showed that full-time employed mothers reported fewer family meals, less frequent encouragement of their adolescents' healthful eating, lower fruit and vegetable intake, and less time spent on food preparation, compared to part-time and not-employed mothers, after adjusting for socio-demographics. Full-time employed fathers reported significantly fewer hours of food preparation; no other associations were seen between fathers' employment status and characteristics of the family food environment. In contrast, higher work-life stress among both parents was associated with less healthful family food environment characteristics including less frequent family meals and more frequent sugar-sweetened beverage and fast food consumption by parents. Among dual-parent families, taking into account the employment characteristics of the other parent did not substantially alter the relationships between work-life stress and family food environment characteristics. While parental employment is beneficial for many

The Gendered Family Process Model: An Integrative Framework of Gender in the Family.

Science.gov (United States)

Endendijk, Joyce J; Groeneveld, Marleen G; Mesman, Judi

2018-05-01

This article reviews and integrates research on gender-related biological, cognitive, and social processes that take place in or between family members, resulting in a newly developed gendered family process (GFP) model. The GFP model serves as a guiding framework for research on gender in the family context, calling for the integration of biological, social, and cognitive factors. Biological factors in the model are prenatal, postnatal, and pubertal androgen levels of children and parents, and genetic effects on parent and child gendered behavior. Social factors are family sex composition (i.e., parent sex, sexual orientation, marriage status, sibling sex composition) and parental gender socialization, such as modeling, gender-differentiated parenting, and gender talk. Cognitive factors are implicit and explicit gender-role cognitions of parents and children. Our review and the GFP model confirm that gender is an important organizer of family processes, but also highlight that much is still unclear about the mechanisms underlying gender-related processes within the family context. Therefore, we stress the need for (1) longitudinal studies that take into account the complex bidirectional relationship between parent and child gendered behavior and cognitions, in which within-family comparisons (comparing behavior of parents toward a boy and a girl in the same family) are made instead of between-family comparisons (comparing parenting between all-boy families and all-girl families, or between mixed-gender families and same-gender families), (2) experimental studies on the influence of testosterone on human gender development, (3) studies examining the interplay between biology with gender socialization and gender-role cognitions in humans.

Patterns of family management of childhood chronic conditions and their relationship to child and family functioning.

Science.gov (United States)

Knafl, Kathleen A; Deatrick, Janet A; Knafl, George J; Gallo, Agatha M; Grey, Margaret; Dixon, Jane

2013-01-01

Understanding patterns of family response to childhood chronic conditions provides a more comprehensive understanding of their influence on family and child functioning. In this paper, we report the results of a cluster analysis based on the six scales comprising the Family Management Measure (FaMM) and the resulting typology of family management. The sample of 575 parents (414 families) of children with diverse chronic conditions fell into four patterns of response (Family Focused, Somewhat Family Focused, Somewhat Condition Focused, Condition Focused) that differed in the extent family life was focused on usual family routines or the demands of condition management. Most (57%) families were in either the Family Focused or Somewhat Family Focused pattern. Patterns of family management were related significantly to family and child functioning, with families in the Family Focused and Somewhat Family Focused patterns demonstrating significantly better family and child functioning than families in the other two patterns. Copyright © 2013. Published by Elsevier Inc.

Understanding familial and non-familial renal cell cancer

NARCIS (Netherlands)

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

2002-01-01

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

Understanding familial and non-familial renal cell cancer.

NARCIS (Netherlands)

Bodmer, D.; Hurk, W.H. van den; Groningen, J.J.M. van; Eleveld, M.J.; Martens, G.J.M.; Weterman, M.A.J.; Geurts van Kessel, A.H.M.

2002-01-01

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

A model of adaptation for families of elderly patients with dementia: focusing on family resilience.

Science.gov (United States)

Kim, Geun Myun; Lim, Ji Young; Kim, Eun Joo; Kim, Sang Suk

2017-07-19

We constructed a model explaining families' positive adaptation in chronic crisis situations such as the problematic behavior of elderly patients with dementia and attendant caregiving stress, based on the family resilience model. Our aim was to devise an adaptation model for families of elderly patients with dementia. A survey of problematic behavior in elderly patients with dementia, family stress, family resilience, and family adaptation was conducted with 292 consenting individuals. The collected data were analyzed using structural equation modeling. The communication process, family stress, and problematic behavior of elderly patients with dementia had direct and indirect effects on family adaptation, while belief system, organization pattern, and social support had indirect effects. Specifically, family stress and more severe problematic behavior by elderly patients with dementia negatively influenced family adaptation, while greater family resilience improved such adaptation. Interventions aiming to enhance family resilience, based on the results of this study, are required to help families with positive adaptation. Such family programs might involve practical support such as education on the characteristics of elderly persons with dementia and coping methods for their problematic behavior; forming self-help groups for families; revitalizing communication within families; and activating communication channels with experts.

From Conciliation to Mediation in Family Disputes-Harmonization of Croatian Family Legislation on Peaceful Resolution of Family Disputes with EU law

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Paula Poretti

2015-01-01

Full Text Available The reform process of family law was initiated with one aim to promote protection of family and children and harmonize Croatian law with European and international standards in this field. In this respect, the intervention institute governed by Croatian family law with the purpose to facilitate reconciliation or in cases where reconciliation between spouses is not achieved, to provide information regarding legal consequences of divorce and possibly to achieve agreement between spouses as for their relationship in future was deemed inadequate in regards to the approach provided by European documents on regulation of peaceful resolution of family disputes. Under the influence thereof, new family legislation redefines intervention and introduces mandatory counselling and family mediation as foundations of the system of alternative dispute resolution of all family disputes in Croatian law.

Supporting Family Engagement in Home Visiting with the Family Map Inventories

OpenAIRE

Kyzer, Angela; Whiteside-Mansell, Leanne; McKelvey, Lorraine; Swindle, Taren

2016-01-01

The purpose of this study was to examine the feasibility and usefulness of a universal screening tool, the Family Map Inventory (F MI), to assess family strengths and needs in a home visiting program. The FMI has been used successfully by center-based early childcare programs to tailor services to family need and build on existing strengths. Home visiting coordinators (N = 39) indicated the FMI would provide useful information, and they had the capacity to implement. In total, 70 families who...

Competitiveness of Family Businesses

NARCIS (Netherlands)

M.A.A.M. Leenders (Mark); E. Waarts (Eric)

2001-01-01

textabstractThe purpose of this study is to systematically examine the advantages and disadvantages of different types of family businesses. We distinguish four different types of family businesses based on their family and business orientation: (1) House of Business, (2) Family Money Machine, (3)

The SpTransformer Gene Family (Formerly Sp185/333) in the Purple Sea Urchin and the Functional Diversity of the Anti-Pathogen rSpTransformer-E1 Protein

Science.gov (United States)

Smith, L. Courtney; Lun, Cheng Man

2017-01-01

The complex innate immune system of sea urchins is underpinned by several multigene families including the SpTransformer family (SpTrf; formerly Sp185/333) with estimates of ~50 members, although the family size is likely variable among individuals of Strongylocentrotus purpuratus. The genes are small with similar structure, are tightly clustered, and have several types of repeats in the second of two exons and that surround each gene. The density of repeats suggests that the genes are positioned within regions of genomic instability, which may be required to drive sequence diversification. The second exon encodes the mature protein and is composed of blocks of sequence called elements that are present in mosaics of defined element patterns and are the major source of sequence diversity. The SpTrf genes respond swiftly to immune challenge, but only a single gene is expressed per phagocyte. Many of the mRNAs appear to be edited and encode proteins with altered and/or missense sequence that are often truncated, of which some may be functional. The standard SpTrf protein structure is an N-terminal glycine-rich region, a central RGD motif, a histidine-rich region, and a C-terminal region. Function is predicted from a recombinant protein, rSpTransformer-E1 (rSpTrf-E1), which binds to Vibrio and Saccharomyces, but not to Bacillus, and binds tightly to lipopolysaccharide, β-1,3-glucan, and flagellin, but not to peptidoglycan. rSpTrf-E1 is intrinsically disordered but transforms to α helical structure in the presence of binding targets including lipopolysaccharide, which may underpin the characteristics of binding to multiple targets. SpTrf proteins associate with coelomocyte membranes, and rSpTrf-E1 binds specifically to phosphatidic acid (PA). When rSpTrf-E1 is bound to PA in liposome membranes, it induces morphological changes in liposomes that correlate with PA clustering and leakage of luminal contents, and it extracts or removes PA from the bilayer. The

The role of family factors in explaining the women’s conflict of work and family roles

Directory of Open Access Journals (Sweden)

سیدعلیرضا افشانی

2016-09-01

Full Text Available This research aimed to investigate the relationship between family factors including socioeconomic status, family support, family attachment, family role overload, and family power structure with conflict of work and family roles among female employees in Yazd city. Research method was descriptive and correlational; and 323 female employees were selected by cluster sampling method. The work-family roles conflict scales, the perception of social support from family, the family involvement questionnaire, the family roles overload scale, and the scale of power structure in family were used in this study. Data were analyzed by SPSS and AMOS. The Findings indicated that socioeconomic status, family support to employed member, family attachment and family power structure had significant and negative relationship with work and family roles conflict. In contrast there were significant and positive relationships between family role overload with work and family roles conflict. Thus, family factors have a very significant role in amount of work and family roles conflict and also can play an effective role in reducing the conflict-induced pressure and stress.

Economic Disadvantage in Complex Family Systems: Expansion of Family Stress Models

Science.gov (United States)

Barnett, Melissa A.

2008-01-01

Economic disadvantage is associated with multiple risks to early socioemotional development. This article reviews research regarding family stress frameworks to model the pathways from economic disadvantage to negative child outcomes via family processes. Future research in this area should expand definitions of family and household to incorporate…

FAMILY PYRGOTIDAE.

Science.gov (United States)

Mello, Ramon Luciano; Lamas, Carlos José Einicker

2016-06-14

Pyrgotidae is a family of endoparasitics flies of beetles with worldwide distribution. The Neotropical fauna is composed by 59 valid species names disposed in 13 genera. The occurrence of Pyrgota longipes Hendel is the first record of the family in Colombia.

Family caring strategies in neutropenia.

Science.gov (United States)

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.

Hidden diversity in Thyridaria and a new circumscription of the Thyridariaceae

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W.M. Jaklitsch

2016-09-01

Full Text Available A multigene analysis of a combined ITS-LSU-SSU-rpb2-tef1 sequence data matrix was applied to infer the phylogenetic position of the genus Thyridaria in the Pleosporales. The generic type of Thyridaria, T. broussonetiae (syn. T. incrustans, is situated in a clade currently named Roussoellaceae, which becomes a synonym of Thyridariaceae. However, Thyridaria rubronotata does not belong to this clade, but is here recognised as Cyclothyriella rubronotata in its own family Cyclothyriellaceae. The Thyridariaceae contain the genera Thyridaria, Roussoella, Roussoellopsis, Neoroussoella and the new genus Parathyridaria. Roussoella acaciae is combined in Thyridaria and Roussoella percutaenea in Parathyridaria. Ohleria modesta and an additional new thyridaria-like genus, Hobus, are found to represent isolated lineages with unresolved phylogenetic affinites within the Pleosporales. For Ohleria the new family Ohleriaceae is established. Melanomma fuscidulum belongs to Nigrograna, and three new species are described in this genus. A strain named Biatriospora marina clusters with Nigrograna. Based on the newly recognised species in Nigrograna, morphology and ecology do in no way correlate among these genera, therefore we erect the new family Nigrogranaceae for Nigrograna and recommend to discontinue the use of the family name Biatriosporaceae until fresh material of B. marina becomes available for sequencing.

Rethinking Family Power.

Science.gov (United States)

Kranichfeld, Marion L.

1987-01-01

Men's power is emphasized in the family power literature on marital decision making. Little attention has been paid to women's power, accrued through their deeper embeddedness in intrafamilial roles. Micro-level analysis of family power demonstrates that women's positions in the family power structure rest not on the horizontal marital tie but…

Family health and family physician’s influence on prevention of psychoactive substances abuse

Directory of Open Access Journals (Sweden)

Lapčević Mirjana

2010-01-01

Full Text Available The family, as the basic social unit, has a decisive role in the health and disease of its members. It is the primary unit where health needs are formed and solved. By its own resources the family independently resolves about 75% of the total health requirements. In the paper the authors study family characteristics which influence family health and diseases, indicators of family health and the scale of life values. Also, the study evaluates social factors, communication and the influence of the usage of psychoactive substances on family health and the quality of family life. To form the personality of a child three factors are most significant: love, the feeling of safety and the presence of harmonious relationship between the parents. Life harmony in a family also depends on the quality of structural components of the personality and the interaction of motivation of its members. Early childhood determines the future personality of the adult person. At that period, habits and partially attitudes are formed. In harmonious family relationships the parents are the role model to children. Verbal and non-verbal communication enrich the relationship among people and enable efforts in supporting understanding, compassion and care for others by mutual agreement. On the scale of life values of Serbian citizens health holds the first position. Immediately following the health issue is good relationship in the family. As healthcare is not only the task of healthcare services, but also of each individual, family and the society as a whole, it is on healthcare personnel to educate the citizens how to preserve and improve their own health and the health of their family by a continual healthcare and education. Above all, this concerns avoidance of bad habits, such as smoking, immoderate alcohol consumption, narcotic abuse, physical inactivity, hypercaloric nutrition, etc. Also, it is significant to make an early recognition of disease symptoms and to turn for

Family history and risk of breast cancer: an analysis accounting for family structure.

Science.gov (United States)

Brewer, Hannah R; Jones, Michael E; Schoemaker, Minouk J; Ashworth, Alan; Swerdlow, Anthony J

2017-08-01

Family history is an important risk factor for breast cancer incidence, but the parameters conventionally used to categorize it are based solely on numbers and/or ages of breast cancer cases in the family and take no account of the size and age-structure of the woman's family. Using data from the Generations Study, a cohort of over 113,000 women from the general UK population, we analyzed breast cancer risk in relation to first-degree family history using a family history score (FHS) that takes account of the expected number of family cases based on the family's age-structure and national cancer incidence rates. Breast cancer risk increased significantly (P trend  history was that combining FHS and age of relative at diagnosis. A family history score based on expected as well as observed breast cancers in a family can give greater risk discrimination on breast cancer incidence than conventional parameters based solely on cases in affected relatives. Our modeling suggests that a yet stronger predictor of risk might be a combination of this score and age at diagnosis in relatives.

Origin, distribution and 3D-modeling of Gr-EXPB1, an expansin from the potato cyst nematode Globodera rostochiensis.

Science.gov (United States)

Kudla, Urszula; Qin, Ling; Milac, Adina; Kielak, Anna; Maissen, Cyril; Overmars, Hein; Popeijus, Herman; Roze, Erwin; Petrescu, Andrei; Smant, Geert; Bakker, Jaap; Helder, Johannes

2005-04-25

Southern analysis showed that Gr-EXPB1, a functional expansin from the potato cyst nematode Globodera rostochiensis, is member of a multigene family, and EST data suggest expansins to be present in other plant parasitic nematodes as well. Homology modeling predicted that Gr-EXPB1 domain 1 (D1) has a flat beta-barrel structure with surface-exposed aromatic rings, whereas the 3D structure of Gr-EXPB1-D2 was remarkably similar to plant expansins. Gr-EXPB1 shows highest sequence similarity to two extracellular proteins from saprophytic soil-inhabiting Actinobacteria, and includes a bacterial type II carbohydrate-binding module. These results support the hypothesis that a number of pathogenicity factors of cyst nematodes is of procaryotic origin and were acquired by horizontal gene transfer.

Genome Defense Mechanisms in Neurospora and Associated Specialized Proteins

Directory of Open Access Journals (Sweden)

Ranjan Tamuli

2010-06-01

Full Text Available Neurospora crassa, the filamentous fungus possesses widest array of genome defense mechanisms known to any eukaryotic organism, including a process called repeat-induced point mutation (RIP. RIP is a genome defense mechanism that hypermutates repetitive DNA sequences; analogous to genomic imprinting in mammals. As an impact of RIP, Neurospora possesses many fewer genes in multigene families than expected. A DNA methyltransferase homologue, RID was shown to be essential for RIP. Recently, a variant catalytic subunit of translesion DNA polymerase zeta (Pol zeta has been found to be essential for dominant RIP suppressor phenotype. Meiotic silencing and quelling are two other genome defense mechanisms in Neurospora, and proteins required for these two processes have been identified through genetic screens.

An update on canine cardiomyopathies - is it all in the genes?

Science.gov (United States)

Dutton, E; López-Alvarez, J

2018-04-17

Dilated cardiomyopathy is the second most common cardiac disease in dogs and causes considerable morbidity and mortality. Primary dilated cardiomyopathy is suspected to be familial, and genetic loci have been associated with the disease in a number of breeds. Because it is an adult-onset disease, usually with late onset, testing breeding dogs and bitches before breeding for a genetic mutation that could lead to dilated cardiomyopathy would be helpful to prevent disease. There is growing evidence that the genetic basis may be multigenic rather than monogenic in the majority of studied breeds. This review article describes the known genetic aspects of canine dilated cardiomyopathy and the implications of genetic tests on heart testing and the future of veterinary cardiology. © 2018 British Small Animal Veterinary Association.

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

Science.gov (United States)

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…

Spousal Support and Work--Family Balance in Launching a Family Business

Science.gov (United States)

Gudmunson, Clinton G.; Danes, Sharon M.; Werbel, James D.; Loy, Johnben Teik-Cheok

2009-01-01

This study examines whether emotional spousal support contributes to business owners' perceived work-family balance while launching a family business. Hobfoll's Conservation of Resources theory of stress is applied to 109 family business owners and their spouses. Results from structural equation models support several hypotheses. First, reports of…

Delimiting family in syntheses of research on childhood chronic conditions and family life.

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Knafl, Kathleen; Leeman, Jennifer; Havill, Nancy; Crandell, Jamie; Sandelowski, Margarete

2015-03-01

Synthesis of family research presents unique challenges to investigators who must delimit what will be included as a family study in the proposed review. In this paper, the authors discuss the conceptual and pragmatic challenges of conducting systematic reviews of the literature on the intersection between family life and childhood chronic conditions. A proposed framework for delimiting the family domain of interest is presented. The framework addresses both topical salience and level of relevance and provides direction to future researchers, with the goal of supporting the overall quality of family research synthesis efforts. For users of synthesis studies, knowledge of how investigators conceptualize the boundaries of family research is important contextual information for understanding the limits and applicability of the results. © 2014 Family Process Institute.

Gambling related family coping and the impact of problem gambling on families in Hong Kong

Directory of Open Access Journals (Sweden)

Elda Mei Lo Chan

2016-03-01

Full Text Available Abstract Despite substantial evidence that problem gambling is associated with a wide range of family difficulties, limited effort has been devoted to studying the negative impacts on family members as a result of problem gambling and how they cope and function under the impacts of problem gambling in Chinese communities. Among the very few Chinese-specific gambling-related family impact studies, none have examined how gambling-related family coping responses are related to gambling-related family impacts. Based on a sample of treatment-seeking Chinese family members of problem gamblers, this study aimed to explore: (1 the demographic characteristics and health and psychological well-being of the family members; (2 the gambling-related family member impacts (active disturbance, worrying behavior; (3 the family coping strategies (engaged, tolerant-inactive and withdrawal coping; (4 the relationship between gambling-related family member impacts, psychological distress and family coping strategies. It was hypothesized that positive significant relationships would be found between family member impacts, psychological distress and family coping strategies. From March 2011 to February 2012, a total of 103 family members of problem gamblers who sought help from Tung Wah Group of Hospitals Even Centre in Hong Kong were interviewed. Results showed that a majority of family members were partners or ex-partners of the gambler with low or no income. A large proportion of participants reported moderate to high psychological distress (72.6 %, poor to fair general health (60.2 %, and poor to neither good nor bad quality of life (61.1 %. Family member impacts were positively significantly correlated to all family coping strategies and psychological distress. Tolerant-inactive coping had the strongest relationships with family member impacts and psychological distress. Strong relationships between family member impacts and psychological distress were also

Familial hypercholesterolemia

Science.gov (United States)

... and Tests A physical exam may show fatty skin growths called xanthomas and cholesterol deposits in the eye (corneal arcus). The health care provider will ask questions about your personal and family medical history. There may be: A strong family history of ...

The family health, functioning, social support and child maltreatment risk of families expecting a baby.

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Lepistö, Sari; Ellonen, Noora; Helminen, Mika; Paavilainen, Eija

2017-08-01

To describe the family health, functioning, social support and child maltreatment risk and associations between them in families expecting a baby. Finland was one of the first countries in banning corporal punishment against children over 30 years ago. Despite of this, studies have shown that parents physically abuse their children. In addition, professionals struggle in intervention of this phenomenon. Abusive parents should be recognised and helped before actual violent behaviour. A follow-up case-control study, with a supportive intervention in the case group (families with a heightened risk) in maternity and child welfare clinics. The baseline results of families are described here. Child maltreatment risk in families expecting a baby was measured by Child Abuse Potential Inventory. The health and functioning was measured by Family Health, Functioning and Social Support Scale. Data included 380 families. A total of 78 families had increased risk for child maltreatment. Heightened risk was associated with partners' age, mothers' education, partners' father's mental health problems, mothers' worry about partners' drinking and mothers' difficulties in talking about the family's problems. Risk was associated with family functioning and health. Families with risk received a less support from maternity clinics. Families with child maltreatment risk and related factors were found. This knowledge can be applied for supporting families both during pregnancy and after the baby is born. Professionals working with families in maternity clinics need tools to recognise families with risk and aid a discussion with them about the family life situation. The Child Abuse Potential, as a part of evaluating the family life situation, seems to prove a useful tool in identifying families at risk. The results offer a valid and useful tool for recognising families with risk and provide knowledge about high-risk family situations. © 2016 John Wiley & Sons Ltd.

Remarkable stability in patterns of blood-stage gene expression during episodes of non-lethal Plasmodium yoelii malaria.

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Cernetich-Ott, Amy; Daly, Thomas M; Vaidya, Akhil B; Bergman, Lawrence W; Burns, James M

2012-08-06

Microarray studies using in vitro cultures of synchronized, blood-stage Plasmodium falciparum malaria parasites have revealed a 'just-in-time' cascade of gene expression with some indication that these transcriptional patterns remain stable even in the presence of external stressors. However, direct analysis of transcription in P. falciparum blood-stage parasites obtained from the blood of infected patients suggests that parasite gene expression may be modulated by factors present in the in vivo environment of the host. The aim of this study was to examine changes in gene expression of the rodent malaria parasite, Plasmodium yoelii 17X, while varying the in vivo setting of replication. Using P. yoelii 17X parasites replicating in vivo, differential gene expression in parasites isolated from individual mice, from independent infections, during ascending, peak and descending parasitaemia and in the presence and absence of host antibody responses was examined using P. yoelii DNA microarrays. A genome-wide analysis to identify coordinated changes in groups of genes associated with specific biological pathways was a primary focus, although an analysis of the expression patterns of two multi-gene families in P. yoelii, the yir and pyst-a families, was also completed. Across experimental conditions, transcription was surprisingly stable with little evidence for distinct transcriptional states or for consistent changes in specific pathways. Differential gene expression was greatest when comparing differences due to parasite load and/or host cell availability. However, the number of differentially expressed genes was generally low. Of genes that were differentially expressed, many involved biologically diverse pathways. There was little to no differential expression of members of the yir and pyst-a multigene families that encode polymorphic proteins associated with the membrane of infected erythrocytes. However, a relatively large number of these genes were expressed during

The impact of war on Puerto Rican families: challenges and strengthened family relationships.

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Magaly Freytes, I; Hannold, Elizabeth M; Resende, Rosana; Wing, Kristen; Uphold, Constance R

2013-08-01

We describe the impact of war on Puerto Rican Veterans and family members. We used qualitative research methods to collect and analyze data. We interviewed 8 Veterans and 8 family members. We used the constant comparison method to review data to identify prominent themes. Two categories emerged: (1) Challenges associated with post-deployment family reintegration, and (2) A positive aftermath of war on the family. Overall, findings indicate that OEF/OIF Veterans and family members were not prepared for the changes they encounter post-deployment. Despite these challenges, some Veterans and family members strengthened their relationships and renewed their appreciation for one another.

Si dios quiere: Hispanic families' experiences of caring for a seriously mentally ill family member.

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Guarnaccia, P J; Parra, P; Deschamps, A; Milstein, G; Argiles, N

1992-06-01

Among Hispanics, the family is viewed as the primary care giver for seriously mentally ill family members. This paper reports on a study of minority families' conceptions of serious mental illness, of their interaction with mental health resources, and on the burdens experienced by families in caring for a seriously mentally ill family member. The focus of this paper is on Hispanic families in New Jersey, with some comparative data from other ethnic group families. Families' conceptions of serious mental illness are explored and analyzed to demonstrate the importance of concepts of nervios and fallo mental in shaping families' responses to their ill family member. Social support systems for families are also explored with particular attention to the role of religious institutions and religious healing as a major source of solace.

Strengths of families to limit relapse in mentally ill family members

African Journals Online (AJOL)

Tlhalefi T. Tlhowe